,DOID,name,def,subset,xref,is_a
0,0001816,angiosarcoma,"""A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels."" [url:http\://en.wikipedia.org/wiki/Hemangiosarcoma, url:https\://en.wikipedia.org/wiki/Angiosarcoma, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3088, url:https\://www.ncbi.nlm.nih.gov/pubmed/23327728]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9120/3', 'MESH:D006394', 'NCI:C3088', 'NCI:C9275', 'SNOMEDCT_US_2022_09_01:39000009', 'UMLS_CUI:C0018923', 'UMLS_CUI:C0854893']",['DOID:175']
2,0014667,disease of metabolism,"""A disease that involving errors in metabolic processes of building or degradation of molecules."" [url:http\://www.ncbi.nlm.nih.gov/books/NBK22259/]","['DO_AGR_slim', 'DO_CFDE_slim', 'DO_GXD_slim', 'NCIthesaurus']","['ICD10CM:E88.9', 'ICD9CM:277.9', 'MESH:D008659', 'NCI:C3235', 'SNOMEDCT_US_2022_09_01:75934005', 'UMLS_CUI:C0025517']",['DOID:4']
4,0040002,aspirin allergy,"""A drug allergy that has_allergic_trigger acetylsalicylic acid."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2468301]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:293586001', 'UMLS_CUI:C0004058']",['DOID:0060500']
5,0040003,benzylpenicillin allergy,"""A beta-lactam allergy that has_allergic_trigger benzylpenicillin."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14483916]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294499007', 'UMLS_CUI:C0571411']",['DOID:0060519']
6,0040004,amoxicillin allergy,"""A beta-lactam allergy that has_allergic_trigger amoxicillin."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11746950]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294505008', 'UMLS_CUI:C0571417']",['DOID:0060519']
7,0040005,ceftriaxone allergy,"""A cephalosporin allergy that has_allergic_trigger ceftriaxone."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12833570]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294551009', 'UMLS_CUI:C0571463']",['DOID:0040021']
8,0040006,carbamazepine allergy,"""A drug allergy that has_allergic_trigger carbamazepine."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7602118]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:293867002', 'UMLS_CUI:C0570787']",['DOID:0060500']
10,0040008,isoniazide allergy,"""A drug allergy that has_allergic_trigger isoniazide."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/445303]",['DO_IEDB_slim'],['ICD10CM:Z88.1'],['DOID:0060500']
11,0040009,lidocaine allergy,"""A drug allergy that has_allergic_trigger lidocaine."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9013953]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:293722000', 'UMLS_CUI:C0570646']",['DOID:0060500']
12,0040010,mepivacaine allergy,"""A drug allergy that has_allergic_trigger mepivacaine."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9989796]",['DO_IEDB_slim'],['ICD10CM:Z88.4'],['DOID:0060500']
13,0040011,phenobarbital allergy,"""A drug allergy that has_allergic_trigger phenobarbital."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11994495]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:293865005', 'UMLS_CUI:C0570785']",['DOID:0060500']
14,0040012,phenytoin allergy,"""A drug allergy that has_allergic_trigger phenytoin."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7602118]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:293869004', 'UMLS_CUI:C0570789']",['DOID:0060500']
15,0040013,ranitidine allergy,"""A drug allergy that has_allergic_trigger ranitidine."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7782125]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:293653009', 'UMLS_CUI:C0570577']",['DOID:0060500']
17,0040015,sulfonamide allergy,"""A drug allergy that has_allergic_trigger sulfonamide."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2434548]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:91939003', 'UMLS_CUI:C0038757']",['DOID:0060500']
20,0040018,thiopental allergy,"""A drug allergy that has_allergic_trigger thiopental."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2215478]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:293709008', 'UMLS_CUI:C0570633']",['DOID:0060500']
21,0040019,D-mannitol allergy,"""A drug allergy that has_allergic_trigger D-mannitol."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15479277]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:295019008', 'UMLS_CUI:C0571922']",['DOID:0060500']
22,0040020,cefotaxime allergy,"""A cephalosporin allergy that has_allergic_trigger cefotaxime."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12833570]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294545004', 'UMLS_CUI:C0571457']",['DOID:0040021']
23,0040021,cephalosporin allergy,"""A drug allergy that has_allergic_trigger cephalosporin."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2083978]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294532003', 'UMLS_CUI:C0571444']",['DOID:0060500']
24,0040022,amodiaquine allergy,"""A drug allergy that has_allergic_trigger amodiaquine."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1959977]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294390007', 'UMLS_CUI:C0571303']",['DOID:0060500']
25,0040023,cefaclor allergy,"""A cephalosporin allergy that has_allergic_trigger cefaclor."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12569987]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294541008', 'UMLS_CUI:C0571453']",['DOID:0040021']
26,0040024,ceftazidime allergy,"""A cephalosporin allergy that has_allergic_trigger ceftazidime."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12833570]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294546003', 'UMLS_CUI:C0571458']",['DOID:0040021']
27,0040025,cefuroxime allergy,"""A cephalosporin allergy that has_allergic_trigger cefuroxime."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12833570]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294542001', 'UMLS_CUI:C0571454']",['DOID:0040021']
28,0040026,chlorhexidine allergy,"""A drug allergy that has_allergic_trigger chlorhexidine."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10848923]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294431008', 'UMLS_CUI:C0571344']",['DOID:0060500']
29,0040027,cyclophosphamide allergy,"""A drug allergy that has_allergic_trigger cyclophosphamide."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8024619]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:293748008', 'UMLS_CUI:C0570670']",['DOID:0060500']
30,0040028,succinylcholine allergy,"""A drug allergy that has_allergic_trigger succinylcholine."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2410473]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294224007', 'UMLS_CUI:C0571140']",['DOID:0060500']
31,0040029,trimethoprim allergy,"""A drug allergy that has_allergic_trigger trimethoprim."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/3377143]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294477004', 'UMLS_CUI:C0571390']",['DOID:0060500']
32,0040030,cefixime allergy,"""A cephalosporin allergy that has_allergic_trigger cefixime."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16867046]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294548002', 'UMLS_CUI:C0571460']",['DOID:0040021']
33,0040031,diclofenac allergy,"""A drug allergy that has_allergic_trigger diclofenac."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21060839]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:293613006', 'UMLS_CUI:C0570540']",['DOID:0060500']
34,0040032,carbapenem allergy,"""A drug allergy that has_allergic_trigger carbapenems."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2457043]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294531005', 'UMLS_CUI:C0571443']",['DOID:0060500']
35,0040033,piperacillin allergy,"""A beta-lactam allergy that has_allergic_trigger piperacillin."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21532862]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294515002', 'UMLS_CUI:C0571427']",['DOID:0060519']
36,0040034,rocuronium allergy,"""A drug allergy that has_allergic_trigger rocuronium."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17667569]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294233009', 'UMLS_CUI:C0571149']",['DOID:0060500']
37,0040035,sulfasalazine allergy,"""A drug allergy that has_allergic_trigger sulfasalazine."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2434548]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:293663001', 'UMLS_CUI:C0570587']",['DOID:0060500']
38,0040036,tubocurarine allergy,"""A drug allergy that has_allergic_trigger tubocurarine."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2215478]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294231006', 'UMLS_CUI:C0571147']",['DOID:0060500']
39,0040037,aztreonam allergy,"""A beta-lactam allergy that has_allergic_trigger aztreonam."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1991925]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294565006', 'UMLS_CUI:C0571476']",['DOID:0060519']
47,0040046,nickel allergic contact dermatitis,"""An allergic contact dermatitis that has_allergic_trigger nickel atom."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7671317]",['DO_IEDB_slim'],['ICD10CM:L23.0'],['DOID:3042']
57,0040056,chromium allergic contact dermatitis,"""An allergic contact dermatitis that has_allergic_trigger chromium atom."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1108802]",['DO_IEDB_slim'],['ICD10CM:L23.0'],['DOID:3042']
58,0040057,benzoic acid allergic contact dermatitis,"""An allergic contact dermatitis that has_allergic_trigger benzoic acid."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25097477]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294186000', 'UMLS_CUI:C0571102']",['DOID:3042']
61,0040060,ketoprofen photoallergic dermatitis,"""A photoallergic dermatitis that has_allergic_trigger ketoprofen."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11169173]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:293621000', 'UMLS_CUI:C0570547']",['DOID:3818']
66,0040065,quinidine allergy,"""A drug allergy that has_allergic_trigger quinidine."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/445303]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294978001', 'UMLS_CUI:C0571881']",['DOID:0060500']
67,0040066,melphalan allergy,"""A drug allergy that has_allergic_trigger melphalan."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/445303]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:293751001', 'UMLS_CUI:C0570673']",['DOID:0060500']
68,0040067,neomycin sulfate allergic contact dermatitis,"""An allergic contact dermatitis that has_allergic_trigger neomycin sulfate."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21616561]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:409640001', 'UMLS_CUI:C1443961']",['DOID:3042']
71,0040070,co-trimoxazole allergy,"""A drug allergy that has_allergic_trigger co-trimoxazole."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/445303]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294594004', 'UMLS_CUI:C0571504']",['DOID:0060500']
72,0040071,sodium aurothiomalate allergy,"""A drug allergy that has_allergic_trigger sodium aurothiomalate."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/445303]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294239008', 'UMLS_CUI:C0571155']",['DOID:0060500']
75,0040074,formaldehyde allergic contact dermatitis,"""An allergic contact dermatitis that has_allergic_trigger formaldehyde."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7902023]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294426006', 'UMLS_CUI:C0571339']",['DOID:3042']
77,0040076,phthalyl group allergy,"""A drug allergy that has_allergic_trigger phthalyl group."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7400667]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294571000', 'UMLS_CUI:C0571482']",['DOID:0060500']
79,0040078,gallamine allergy,"""A drug allergy that has_allergic_trigger gallamine."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2215478]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:294229002', 'UMLS_CUI:C0571145']",['DOID:0060500']
84,0040083,Chlamydia pneumonia,"""A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16831205]","['DO_IEDB_slim', 'DO_infectious_disease_slim']","['ICD10CM:J16.0', 'ICD9CM:483.1']",['DOID:874']
85,0040084,Streptococcus pneumonia,"""A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26396191]","['DO_IEDB_slim', 'DO_infectious_disease_slim']","['ICD10CM:J13', 'ICD9CM:481']",['DOID:874']
86,0040085,bacterial sepsis,"""A bacterial infectious disease has_material_basis_in Bacteria."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20421654]","['DO_IEDB_slim', 'DO_infectious_disease_slim']","['ICD9CM:995.91', 'SNOMEDCT_US_2021_09_01:10001005']",['DOID:104']
87,0040086,Polyomavirus-associated nephropathy,"""A viral infectious disease has_material_basis_in BK polyomavirus."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16537617]","['DO_IEDB_slim', 'DO_infectious_disease_slim']","['SNOMEDCT_US_2022_09_01:713886006', 'UMLS_CUI:C1697878']",['DOID:934']
92,0040091,autoimmune pancreatitis,"""An autoimmune disease of endocrine system that is located_in the pancreas."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19940298]",['DO_IEDB_slim'],"['MESH:D000081012', 'SNOMEDCT_US_2022_09_01:448542008', 'UMLS_CUI:C2609129']",['DOID:0060005']
93,0040092,juvenile ankylosing spondylitis,"""An autoimmune disease of musculoskeletal system that is an ankylosing spondylitis with onset during childhood."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7541736]",['DO_IEDB_slim'],"['ICD10CM:M08.1', 'SNOMEDCT_US_2022_09_01:201802002', 'UMLS_CUI:C0409675']",['DOID:0060032']
94,0040093,drug-induced lupus erythematosus,"""A lupus erythematosus caused by chronic use of certain drugs."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1378852]","['DO_IEDB_slim', 'DO_rare_slim']","['ICD10CM:M32.0', 'NCI:C114354', 'ORDO:231111', 'SNOMEDCT_US_2022_09_01:80258006', 'UMLS_CUI:C0263591']",['DOID:8857']
98,0040097,autoimmune vasculitis,"""An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23549081]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:427213005', 'UMLS_CUI:C1328843']",['DOID:0060051']
99,0040098,pemphigus gestationis,"""A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16552711]",['DO_IEDB_slim'],['ICD10CM:O26.4'],['DOID:9182']
100,0040099,livedoid vasculitis,"""A vasculitis with purpuric ulcers."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10925314]",['DO_IEDB_slim'],"['ICD10CM:L95.0', 'ICD9CM:709.1']",['DOID:865']
101,0040100,Hirata disease,"""An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10445096]",['DO_IEDB_slim'],"['SNOMEDCT_US_2022_09_01:408539000', 'UMLS_CUI:C0854359']",['DOID:0060005']
106,0050004,seminal vesicle acute gonorrhea,"""A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by Neisseria gonorrhoeae infection."" [url:https\://en.wikipedia.org/wiki/Seminal_vesicle#Inflammation]",['DO_infectious_disease_slim'],"['SNOMEDCT_US_2022_09_01:301990003', 'UMLS_CUI:C0578661']",['DOID:10400']
107,0050012,chikungunya,"""A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash."" [url:http\://en.wikipedia.org/wiki/Chikungunya_virus]","['DO_infectious_disease_slim', 'DO_rare_slim', 'zoonotic_infectious_disease']",['GARD:6038'],['DOID:934']
109,0050026,human monocytic ehrlichiosis,"""An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash."" [url:https\://rarediseases.org/rare-diseases/human-monocytic-ehrlichiosis-hme/]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'tick-borne_infectious_disease']",['GARD:72'],['DOID:10242']
119,0050052,Rocky Mountain spotted fever,"""A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash."" [url:http\://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_rickettsii_%28Rocky_Mountain_spotted_fever%29, url:http\://www.cdc.gov/otherspottedfever/index.html]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'tick-borne_infectious_disease', 'zoonotic_infectious_disease']","['GARD:7585', 'MESH:D012373']",['DOID:11104']
121,0050061,erysipeloid,"""A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin."" [url:https\://en.wikipedia.org/wiki/Erysipeloid]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease', 'zoonotic_infectious_disease']",['MESH:D004887'],['DOID:0050338']
122,0050072,adiaspiromycosis,"""A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens."" [url:http\://www.eblue.org/article/S0190-9622%2804%2901331-3/abstract]",['DO_infectious_disease_slim'],['MESH:C000656784'],['DOID:0050292']
124,0050083,Keshan disease,"""A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency."" [url:https\://en.wikipedia.org/wiki/Keshan_disease]",['DO_rare_slim'],"['GARD:8761', 'MESH:C536166']",['DOID:5113']
125,0050096,tinea barbae,"""A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules."" [url:https\://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-barbae]",['DO_infectious_disease_slim'],['MESH:C000656825'],['DOID:8913']
129,0050117,disease by infectious agent,"""A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions."" [url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C26726]","['DO_CFDE_slim', 'DO_GXD_slim', 'DO_infectious_disease_slim', 'DO_MGI_slim', 'NCIthesaurus']","['ICD9CM:079.0', 'UMLS_CUI:C0001485']",['DOID:4']
130,0050118,La Crosse encephalitis,"""A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis."" [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm]","['DO_infectious_disease_slim', 'zoonotic_infectious_disease']","['ICD10CM:A83.5', 'ICD9CM:062.5', 'MESH:D004670', 'SNOMEDCT_US_2022_09_01:69627004', 'UMLS_CUI:C0014053']",['DOID:934']
131,0050120,hemophagocytic lymphohistiocytosis,"""A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages."" [url:http\://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis, url:http\://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6589', 'ICD10CM:D76.1', 'MESH:D051359', 'NCI:C34792', 'OMIM:PS267700', 'ORDO:540', 'SNOMEDCT_US_2022_09_01:190958003', 'UMLS_CUI:C0024291']",['DOID:75']
133,0050127,sinusitis,"""A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip."" [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35024&ns=NCI_Thesaurus&key=1218436475&b=1&n=null]",['NCIthesaurus'],"['ICD10CM:J01', 'ICD9CM:461', 'NCI:C128411', 'SNOMEDCT_US_2022_09_01:195649005', 'UMLS_CUI:C0149512']",['DOID:1352']
138,0050133,superficial mycosis,"""A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host."" [url:http\://en.wikipedia.org/wiki/Mycoses, url:http\://www.mycology.adelaide.edu.au/Mycoses/]",['DO_infectious_disease_slim'],"['ICD10CM:B36.9', 'MESH:D010854', 'SNOMEDCT_US_2022_09_01:266218008', 'SNOMEDCT_US_2022_09_01:47382004', 'UMLS_CUI:C0031898', 'UMLS_CUI:C2980104']",['DOID:1564']
146,0050144,Kartagener syndrome,"""A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development."" [url:http\://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84797, url:http\://rarediseases.info.nih.gov/gard/6815/kartagener-syndrome/resources/1, url:https\://www.ncbi.nlm.nih.gov/pubmed/19529061, url:https\://www.ncbi.nlm.nih.gov/pubmed/23243352, url:https\://www.ncbi.nlm.nih.gov/pubmed/24019633, url:https\://www.ncbi.nlm.nih.gov/pubmed/25633235]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6815', 'MESH:D007619', 'NCI:C84797', 'ORDO:98861', 'SNOMEDCT_US_2021_09_01:42402006']",['DOID:9562']
151,0050152,aspiration pneumonia,"""A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough."" [url:https\://en.wikipedia.org/wiki/Aspiration_pneumonia]",['DO_infectious_disease_slim'],"['ICD10CM:J69.0', 'MESH:D011015', 'SNOMEDCT_US_2022_09_01:47839005', 'UMLS_CUI:C0032290']",['DOID:874']
154,0050156,idiopathic pulmonary fibrosis,"""A pulmonary fibrosis that is characterized by scarring of the lung."" [url:https\://www.pulmonaryfibrosis.org/life-with-pf/about-ipf]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0000768', 'GARD:8609', 'ICD10CM:J84.112', 'ICD9CM:516.31', 'MESH:D054990', 'NCI:C35716', 'OMIM:178500', 'SNOMEDCT_US_2022_09_01:28168000', 'UMLS_CUI:C1800706']",['DOID:3770']
155,0050157,cryptogenic organizing pneumonia,"""An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope."" [url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh, url:https\://www.ncbi.nlm.nih.gov/pubmed/11790668]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1620', 'ICD10CM:J84.116', 'ICD9CM:516.36', 'MESH:D018549', 'NCI:C62586', 'SNOMEDCT_US_2022_09_01:129458007', 'UMLS_CUI:C0242770']",['DOID:2797']
156,0050158,desquamative interstitial pneumonia,"""An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation."" [url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35288, url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh, url:https\://www.ncbi.nlm.nih.gov/pubmed/11790668, url:https\://www.ncbi.nlm.nih.gov/pubmed/16142185, url:https\://www.ncbi.nlm.nih.gov/pubmed/16456642, url:https\://www.ncbi.nlm.nih.gov/pubmed/23001799]",['NCIthesaurus'],"['ICD10CM:J84.117', 'ICD9CM:516.37', 'MESH:C562470', 'NCI:C35288', 'OMIM:263000', 'SNOMEDCT_US_2022_09_01:8549006', 'UMLS_CUI:C0238378']",['DOID:2797']
158,0050160,inhalation anthrax,"""An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches."" [url:https\://medlineplus.gov/ency/article/001325.htm, url:https\://www.cdc.gov/anthrax/basics/types/index.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/11988441]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease', 'zoonotic_infectious_disease']",['MESH:C571912'],['DOID:7427']
159,0050161,lower respiratory tract disease,"""A respiratory system disease which involves the lower respiratory tract."" [url:http\://en.wikipedia.org/wiki/lower_respiratory_tract]",['DO_RAD_slim'],"['ICD9CM:478.19', 'SNOMEDCT_US_2022_09_01:195823002', 'UMLS_CUI:C0029581']",['DOID:1579']
160,0050166,tuberculous salpingitis,"""An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube."" [url:http\://books.google.com/books?id=tuKGMxGRKa8C&pg=PA627&lpg=PA627&dq#v=onepage&q&f=false]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD10CM:A18.17', 'ICD9CM:016.6', 'SNOMEDCT_US_2022_09_01:186242002', 'UMLS_CUI:C0152828']",['DOID:2149']
161,0050167,autoimmune polyendocrine syndrome type 1,"""An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs."" [url:https\://rarediseases.info.nih.gov/diseases/8466/autoimmune-polyglandular-syndrome-type-1]",['DO_rare_slim'],"['GARD:8466', 'OMIM:240300']",['DOID:14040']
162,0050168,autoimmune polyendocrine syndrome type 2,"""An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene."" [url:http\://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2]",['DO_rare_slim'],"['GARD:7611', 'OMIM:269200']",['DOID:14040']
163,0050169,cutaneous lupus erythematosus,"""A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927537/]",['DO_rare_slim'],['GARD:6225'],['DOID:8857']
165,0050175,tick-borne encephalitis,"""A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis."" [url:http\://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/TBE.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'tick-borne_infectious_disease']","['GARD:5216', 'ICD10CM:A84.1', 'ICD9CM:063.2', 'MESH:D004675', 'SNOMEDCT_US_2022_09_01:16901001', 'UMLS_CUI:C0014054']",['DOID:934']
168,0050185,erythema multiforme,"""A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness."" [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000851.htm]",['DO_rare_slim'],"['GARD:6372', 'MESH:D004892']",['DOID:37']
181,0050214,Lambert-Eaton myasthenic syndrome,"""A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal."" [url:http\://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome]",['NCIthesaurus'],"['ICD10CM:G70.80', 'ICD9CM:358.3', 'MESH:D015624', 'NCI:C3155', 'SNOMEDCT_US_2022_09_01:230688006', 'UMLS_CUI:C0022972']",['DOID:439']
184,0050242,primary amebic meningoencephalitis,"""A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma."" [url:http\://en.wikipedia.org/wiki/Primary_amoebic_meningoencephalitis, url:http\://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm]","['DO_infectious_disease_slim', 'DO_rare_slim']",['GARD:9554'],['DOID:2789']
185,0050246,granulomatous amebic encephalitis,"""A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death."" [url:http\://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm]","['DO_infectious_disease_slim', 'DO_rare_slim']",['GARD:12651'],['DOID:2789']
190,0050256,angiostrongyliasis,"""A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis."" [url:https\://en.wikipedia.org/wiki/Angiostrongyliasis]","['DO_infectious_disease_slim', 'DO_rare_slim']","['GARD:683', 'MESH:C536369']",['DOID:883']
194,0050266,tungiasis,"""A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo."" [url:http\://en.wikipedia.org/wiki/Tungiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Tungiasis.htm]","['DO_infectious_disease_slim', 'DO_rare_slim']","['GARD:393', 'MESH:D058285']",['DOID:4110']
196,0050269,Trichomonas vaginalis trichomoniasis,"""A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge."" [url:http\://en.wikipedia.org/wiki/Trichomoniasis]","['DO_IEDB_slim', 'DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:A59.00', 'MESH:D014247', 'NCI:C35083']",['DOID:1947']
201,0050289,fusariosis,"""An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14748803]",['DO_infectious_disease_slim'],['MESH:D060585'],['DOID:2473']
202,0050290,trichosporonosis,"""An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body."" [url:https\://en.wikipedia.org/wiki/Trichosporonosis]",['DO_infectious_disease_slim'],['MESH:D060586'],['DOID:2473']
207,0050328,congenital hypothyroidism,"""A hypothyroidism that is present at birth."" [url:http\://en.wikipedia.org/wiki/Congenital_hypothyroidism, url:http\://ghr.nlm.nih.gov/condition/congenital-hypothyroidism]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1487', 'ICD10CM:E00.1', 'ICD10CM:E03.1', 'ICD9CM:243', 'MESH:D003409', 'NCI:C26734', 'NCI:C98921', 'OMIM:PS275200', 'SNOMEDCT_US_2022_09_01:217710005', 'SNOMEDCT_US_2022_09_01:75065003', 'UMLS_CUI:C0010308', 'UMLS_CUI:C0342200']",['DOID:1459']
209,0050332,enlarged vestibular aqueduct,"""A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts."" [url:https\://en.wikipedia.org/wiki/Enlarged_vestibular_aqueduct]",['DO_rare_slim'],['GARD:8651'],['DOID:3426']
210,0050335,bradyopsia,"""A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions."" [url:https\://medlineplus.gov/genetics/condition/bradyopsia/, url:https\://www.ncbi.nlm.nih.gov/pubmed/17826834]",['DO_rare_slim'],"['GARD:12299', 'MESH:C564243', 'OMIM:PS608415', 'ORDO:75374', 'SNOMEDCT_US_2022_09_01:711163009', 'UMLS_CUI:C1842073']",['DOID:5679']
223,0050424,familial adenomatous polyposis,"""An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer."" [url:http\://en.wikipedia.org/wiki/Familial_adenomatous_polyposis, url:http\://www.omim.org/entry/175100?search=adenomatous%20polyposis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6408', 'MESH:D011125', 'NCI:C3339', 'OMIM:PS175100', 'ORDO:733', 'SNOMEDCT_US_2022_09_01:72900001', 'UMLS_CUI:C0032580']",['DOID:5295']
224,0050425,restless legs syndrome,"""A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them."" [url:http\://en.wikipedia.org/wiki/Restless_legs_syndrome, url:http\://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0004270', 'GARD:11926', 'ICD10CM:G25.81', 'ICD9CM:333.94', 'MESH:D012148', 'NCI:C84501', 'OMIM:PS102300', 'SNOMEDCT_US_2022_09_01:32914008', 'UMLS_CUI:C0035258']",['DOID:331']
225,0050426,Stevens-Johnson syndrome,"""A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection."" [url:https\://en.wikipedia.org/wiki/Stevens%E2%80%93Johnson_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0004276', 'GARD:7700', 'ICD10CM:L51.1', 'ICD9CM:695.13', 'MESH:D013262', 'NCI:C79484', 'SNOMEDCT_US_2022_09_01:73442001', 'UMLS_CUI:C0038325']",['DOID:37']
226,0050427,xeroderma pigmentosum,"""A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair."" [url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7910', 'ICD10CM:Q82.1', 'MESH:D014983', 'NCI:C3452', 'ORDO:910', 'SNOMEDCT_US_2022_09_01:44600005', 'UMLS_CUI:C0043346']",['DOID:225']
227,0050428,nonepidermolytic palmoplantar keratoderma,"""A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles."" [url:http\://en.wikipedia.org/wiki/Palmoplantar_keratoderma]","['DO_rare_slim', 'NCIthesaurus']","['MESH:D015776', 'NCI:C3147', 'OMIM:600962', 'ORDO:2337', 'SNOMEDCT_US_2022_09_01:81206005', 'UMLS_CUI:C0022584', 'UMLS_CUI:C3489771']",['DOID:3390']
228,0050429,Hailey-Hailey disease,"""A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin."" [url:https\://rarediseases.org/rare-diseases/hailey-hailey-disease/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6559', 'ICD10CM:Q82.8', 'MESH:D016506', 'NCI:C82865', 'OMIM:169600', 'SNOMEDCT_US_2022_09_01:79468000', 'UMLS_CUI:C0085106']",['DOID:9182']
229,0050430,multiple endocrine neoplasia type 2A,"""A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis."" [url:http\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia, url:http\://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/15965261, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['ICD10CM:E31.22', 'ICD9CM:258.02', 'MESH:D018813', 'NCI:C3226', 'OMIM:171400', 'ORDO:247698', 'SNOMEDCT_US_2022_09_01:721188000', 'UMLS_CUI:C0025268']",['DOID:3125']
230,0050431,arrhythmogenic right ventricular cardiomyopathy,"""An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle."" [url:http\://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia, url:http\://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy, url:http\://my.clevelandclinic.org/services/heart/disorders/arvd, url:http\://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html]","['DO_rare_slim', 'NCIthesaurus']","['MESH:D019571', 'NCI:C84571', 'OMIM:PS107970', 'ORDO:217656', 'ORDO:247', 'SNOMEDCT_US_2022_09_01:281170005', 'UMLS_CUI:C0349788']",['DOID:0060036']
231,0050432,Asperger syndrome,"""An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development."" [url:http\://en.wikipedia.org/wiki/Asperger_syndrome, url:http\://www.neurodevnet.ca]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5855', 'ICD10CM:F84.5', 'MESH:D020817', 'NCI:C97159', 'OMIM:608631', 'OMIM:608638', 'OMIM:608781', 'OMIM:609954', 'OMIM:PS608638', 'ORDO:1162', 'SNOMEDCT_US_2022_09_01:154879004', 'UMLS_CUI:C0236792']",['DOID:0060041']
232,0050433,fatal familial insomnia,"""A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain."" [url:https\://en.wikipedia.org/wiki/Fatal_familial_insomnia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6429', 'ICD10CM:A81.83', 'ICD9CM:046.72', 'MESH:D034062', 'NCI:C84711', 'OMIM:600072', 'SNOMEDCT_US_2022_09_01:83157008', 'UMLS_CUI:C0206042']",['DOID:649']
233,0050434,Andersen-Tawil syndrome,"""A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly."" [url:http\://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome, url:http\://en.wikipedia.org/wiki/Long_QT_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9453', 'MESH:D050030', 'NCI:C84559', 'OMIM:170390', 'ORDO:37553', 'SNOMEDCT_US_2022_09_01:422348008', 'UMLS_CUI:C1563715']",['DOID:2843']
234,0050436,mulibrey nanism,"""A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene."" [url:https\://rarediseases.org/rare-diseases/mulibrey-nanism/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:95', 'MESH:D050336', 'NCI:C84906', 'OMIM:253250', 'ORDO:2576', 'SNOMEDCT_US_2022_09_01:81604003', 'UMLS_CUI:C0524582']",['DOID:225']
235,0050437,Danon disease,"""A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene."" [url:https\://rarediseases.org/rare-diseases/danon-disease/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9730', 'MESH:D052120', 'NCI:C84735', 'OMIM:300257', 'SNOMEDCT_US_2022_09_01:419097006', 'UMLS_CUI:C0878677']",['DOID:3211']
236,0050438,Frasier syndrome,"""A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene."" [url:https\://ghr.nlm.nih.gov/condition/frasier-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2375', 'MESH:D052159', 'NCI:C122805', 'OMIM:136680', 'SNOMEDCT_US_2022_09_01:445431000', 'UMLS_CUI:C0950122']",['DOID:225']
237,0050439,Usher syndrome,"""A syndrome characterized by a combination of hearing loss and visual impairment."" [url:http\://en.wikipedia.org/wiki/Usher_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7843', 'MESH:D052245', 'NCI:C85217', 'OMIM:PS276900', 'ORDO:886', 'SNOMEDCT_US_2022_09_01:57838006', 'UMLS_CUI:C0271097']",['DOID:225']
238,0050440,familial partial lipodystrophy,"""A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life."" [url:http\://en.wikipedia.org/wiki/Familial_partial_lipodystrophy, url:http\://omim.org/entry/608600]","['DO_rare_slim', 'NCIthesaurus']","['GARD:11962', 'MESH:D052496', 'NCI:C165527', 'NCI:C84708', 'OMIM:PS151660', 'ORDO:98306', 'SNOMEDCT_US_2022_09_01:1197745002', 'SNOMEDCT_US_2022_09_01:49292002', 'SNOMEDCT_US_2022_09_01:715439000', 'SNOMEDCT_US_2022_09_01:725035001', 'UMLS_CUI:C0271694', 'UMLS_CUI:C1720859', 'UMLS_CUI:C1720860', 'UMLS_CUI:C1720861']",['DOID:0080299']
239,0050441,mucosulfatidosis,"""A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes."" [url:https\://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency]",['NCIthesaurus'],"['ICD10CM:E75.26', 'MESH:D052517', 'NCI:C84908', 'OMIM:272200', 'SNOMEDCT_US_2022_09_01:254076009', 'SNOMEDCT_US_2022_09_01:54898003', 'UMLS_CUI:C0268263', 'UMLS_CUI:C1720864']",['DOID:1927']
240,0050444,infantile Refsum disease,"""A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes."" [url:https\://www.ninds.nih.gov/Disorders/All-Disorders/Infantile-Refsum-Disease-Information-Page]",['NCIthesaurus'],"['ICD10CM:G60.1', 'MESH:D052919', 'NCI:C84789', 'SNOMEDCT_US_2022_09_01:238062008', 'UMLS_CUI:C0282527']",['DOID:906']
241,0050445,X-linked dominant hypophosphatemic rickets,"""A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization."" [url:http\://en.wikipedia.org/wiki/X-linked_hypophosphatemia, url:https\://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia]",['NCIthesaurus'],"['MESH:D053098', 'NCI:C85234', 'OMIM:307800', 'UMLS_CUI:C0733682', 'UMLS_CUI:C1845168', 'UMLS_CUI:C3540852']",['DOID:10609']
242,0050448,white sponge nevus,"""A skin disease characterized by a defect in the normal process of keratinization of the mucosa."" [url:http\://en.wikipedia.org/wiki/White_sponge_nevus, url:https\://pubmed.ncbi.nlm.nih.gov/29034652/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8501', 'MESH:D053529', 'NCI:C84760', 'OMIM:PS193900', 'ORDO:171723', 'SNOMEDCT_US_2022_09_01:85388002', 'UMLS_CUI:C1721005']",['DOID:37']
243,0050449,pachyonychia congenita,"""A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin."" [url:https\://ghr.nlm.nih.gov/condition/pachyonychia-congenita]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10753', 'MESH:D053549', 'NCI:C84986', 'OMIM:PS167200', 'ORDO:2309', 'SNOMEDCT_US_2022_09_01:39427000', 'UMLS_CUI:C0265334', 'UMLS_CUI:C1706595', 'UMLS_CUI:C1721007']",['DOID:225']
244,0050450,Gitelman syndrome,"""A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting)."" [url:https\://ghr.nlm.nih.gov/condition/gitelman-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8547', 'MESH:D053579', 'NCI:C84730', 'OMIM:263800', 'SNOMEDCT_US_2022_09_01:3188003', 'UMLS_CUI:C0268450']",['DOID:447']
245,0050451,Brugada syndrome,"""A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death."" [url:http\://en.wikipedia.org/wiki/Brugada_syndrome]",['DO_rare_slim'],"['GARD:1030', 'ICD10CM:I49.8', 'MESH:D053840', 'NCI:C142891', 'OMIM:PS601144', 'ORDO:130', 'SNOMEDCT_US_2022_09_01:418818005', 'UMLS_CUI:C1142166', 'UMLS_CUI:C1721096']",['DOID:10273']
246,0050452,mevalonic aciduria,"""A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis."" [url:https\://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria]","['DO_rare_slim', 'NCIthesaurus']","['GARD:3588', 'ICD10CM:M04.1', 'MESH:D054078', 'NCI:C84890', 'OMIM:610377', 'ORDO:29', 'SNOMEDCT_US_2022_09_01:124327008', 'SNOMEDCT_US_2022_09_01:234538002', 'UMLS_CUI:C0342731', 'UMLS_CUI:C0398691', 'UMLS_CUI:C1959626']",['DOID:906']
247,0050453,lissencephaly,"""A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation."" [url:http\://en.wikipedia.org/wiki/Lissencephaly, url:http\://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:12291', 'ICD10CM:Q04.3', 'MESH:D054082', 'NCI:C103921', 'OMIM:PS607432', 'ORDO:102009', 'SNOMEDCT_US_2022_09_01:204036008', 'SNOMEDCT_US_2022_09_01:23024003', 'UMLS_CUI:C0266463', 'UMLS_CUI:C0266483']",['DOID:2490']
248,0050454,periventricular nodular heterotopia,"""A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain."" [url:http\://ghr.nlm.nih.gov/condition/periventricular-heterotopia]",['DO_rare_slim'],"['MESH:D054091', 'OMIM:300049', 'OMIM:608097', 'OMIM:608098', 'OMIM:612881', 'OMIM:615544', 'ORDO:98892', 'SNOMEDCT_US_2022_09_01:448227009', 'SNOMEDCT_US_2022_09_01:816068000', 'UMLS_CUI:C1848213', 'UMLS_CUI:C1868720']",['DOID:2490']
249,0050456,Buruli ulcer disease,"""A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin."" [url:http\://en.wikipedia.org/wiki/Buruli_ulcer, url:http\://www.who.int/mediacentre/factsheets/fs199/en/]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9520', 'ICD10CM:A31.1', 'MESH:D054312', 'NCI:C84604', 'SNOMEDCT_US_2022_09_01:186343005', 'UMLS_CUI:C0085568']",['DOID:0050338']
250,0050457,Sertoli cell-only syndrome,"""A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development."" [url:https\://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome]",['DO_rare_slim'],"['GARD:8406', 'MESH:D054331', 'NCI:C168988', 'SNOMEDCT_US_2022_09_01:73465006', 'UMLS_CUI:C1384583']",['DOID:12336']
251,0050458,juvenile myelomonocytic leukemia,"""A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes."" [url:https\://rarediseases.org/rare-diseases/juvenile-myelomonocytic-leukemia/]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9884', 'ICD10CM:C93.3', 'ICDO:9946/3', 'MESH:D054429', 'NCI:C9233', 'OMIM:607785', 'SNOMEDCT_US_2022_09_01:445227008', 'UMLS_CUI:C0349639']",['DOID:4972']
252,0050459,hyperphosphatemia,"""A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnomral phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene."" [url:https\://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis]",['NCIthesaurus'],"['MESH:D054559', 'NCI:C113750', 'SNOMEDCT_US_2022_09_01:20165001', 'UMLS_CUI:C0085681']",['DOID:2485']
253,0050460,Wolf-Hirschhorn syndrome,"""A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3."" [url:https\://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7896', 'ICD10CM:Q93.3', 'MESH:D054877', 'NCI:C35528', 'OMIM:194190', 'ORDO:280', 'SNOMEDCT_US_2022_09_01:17122004', 'UMLS_CUI:C0796117', 'UMLS_CUI:C1956097']",['DOID:0060388']
254,0050461,aspartylglucosaminuria,"""A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins."" [url:https\://ghr.nlm.nih.gov/condition/aspartylglucosaminuria]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5854', 'ICD10CM:E77.1', 'MESH:D054880', 'NCI:C61273', 'OMIM:208400', 'SNOMEDCT_US_2022_09_01:54954004', 'UMLS_CUI:C0268225']",['DOID:3211']
256,0050463,campomelic dysplasia,"""An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles."" [url:http\://en.wikipedia.org/wiki/Campomelic_dysplasia, url:http\://ghr.nlm.nih.gov/condition/campomelic-dysplasia, url:http\://www.healthline.com/galecontent/campomelic-dysplasia-1]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10027', 'MESH:D055036', 'NCI:C120205', 'NCI:C84609', 'OMIM:114290', 'ORDO:140', 'UMLS_CUI:C1861922', 'UMLS_CUI:C1861923']",['DOID:2256']
257,0050464,Farber lipogranulomatosis,"""A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition."" [url:https\://en.wikipedia.org/wiki/Farber_disease]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6426', 'MESH:D055577', 'NCI:C84710', 'OMIM:228000', 'SNOMEDCT_US_2022_09_01:79935000', 'UMLS_CUI:C0268255']",['DOID:9455']
258,0050465,Muir-Torre syndrome,"""A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes."" [url:https\://en.wikipedia.org/wiki/Muir%E2%80%93Torre_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6821', 'MESH:D055653', 'NCI:C84905', 'OMIM:158320', 'SNOMEDCT_US_2022_09_01:403824007', 'UMLS_CUI:C1321489']",['DOID:3883']
259,0050466,Loeys-Dietz syndrome,"""A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects."" [url:https\://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10788', 'MESH:D055947', 'NCI:C75006', 'ORDO:60030', 'SNOMEDCT_US_2022_09_01:446263001', 'UMLS_CUI:C1836635', 'UMLS_CUI:C2697932']",['DOID:225']
260,0050467,erythrokeratodermia variabilis,"""A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis."" [url:https\://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['MESH:D056266', 'NCI:C84696', 'OMIM:PS133200', 'ORDO:317', 'SNOMEDCT_US_2022_09_01:70041004', 'UMLS_CUI:C0265961', 'UMLS_CUI:C1851480']",['DOID:37']
261,0050468,yellow nail syndrome,"""A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached."" [url:http\://rarediseases.info.nih.gov/gard/184/yellow-nail-syndrome/resources/1, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/834/viewAbstract, url:https\://www.ncbi.nlm.nih.gov/pubmed/28241848]","['DO_rare_slim', 'NCIthesaurus']","['GARD:184', 'ICD10CM:L60.5', 'MESH:D056684', 'NCI:C85238', 'OMIM:153300', 'SNOMEDCT_US_2022_09_01:400211001', 'UMLS_CUI:C0221348']",['DOID:225']
262,0050469,Costello syndrome,"""A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17250658, url:https\://www.ncbi.nlm.nih.gov/pubmed/907573]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1550', 'MESH:D056685', 'NCI:C84652', 'OMIM:218040', 'SNOMEDCT_US_2022_09_01:205803001', 'UMLS_CUI:C0587248']",['DOID:0080690']
263,0050470,Donohue syndrome,"""A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor."" [url:https\://en.wikipedia.org/wiki/Donohue_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['MESH:D056731', 'NCI:C131000', 'NCI:C84676', 'OMIM:246200', 'ORDO:508', 'SNOMEDCT_US_2022_09_01:111307005', 'SNOMEDCT_US_2022_09_01:33559001', 'UMLS_CUI:C0265344', 'UMLS_CUI:C0271695']",['DOID:225']
264,0050471,Carney complex,"""A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity."" [url:http\://en.wikipedia.org/wiki/Carney_complex, url:http\://ghr.nlm.nih.gov/condition/carney-complex]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1119', 'MESH:D056733', 'NCI:C4705', 'OMIM:160980', 'OMIM:605244', 'OMIM:608837', 'ORDO:1359', 'SNOMEDCT_US_2022_09_01:733491005', 'UMLS_CUI:C0406810', 'UMLS_CUI:C1854540', 'UMLS_CUI:C2607929']",['DOID:225']
265,0050472,monilethrix,"""A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins."" [url:https\://ghr.nlm.nih.gov/condition/monilethrix]","['DO_rare_slim', 'NCIthesaurus']","['GARD:93', 'ICD10CM:Q84.1', 'MESH:D056734', 'NCI:C84894', 'OMIM:158000', 'SNOMEDCT_US_2022_09_01:69488000', 'UMLS_CUI:C0546966']",['DOID:421']
266,0050473,Alstrom syndrome,"""A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene."" [url:http\://en.wikipedia.org/wiki/Alstrom_syndrome]",['NCIthesaurus'],"['MESH:D056769', 'NCI:C84549', 'OMIM:203800', 'SNOMEDCT_US_2022_09_01:63702009', 'UMLS_CUI:C0268425']",['DOID:225']
267,0050474,Netherton syndrome,"""A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin."" [url:https\://ghr.nlm.nih.gov/condition/netherton-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7182', 'OMIM:256500', 'ORDO:634', 'SNOMEDCT_US_2022_09_01:312514006', 'UMLS_CUI:C0265962']",['DOID:37']
268,0050475,Weill-Marchesani syndrome,"""A syndrome characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities."" [url:http\://en.wikipedia.org/wiki/Weill-Marchesani_syndrome, url:http\://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4936', 'MESH:D056846', 'NCI:C85226', 'OMIM:277600', 'OMIM:608328', 'OMIM:613195', 'OMIM:614819', 'OMIM:PS277600', 'ORDO:3449', 'SNOMEDCT_US_2022_09_01:205801004', 'UMLS_CUI:C0265313', 'UMLS_CUI:C1869114', 'UMLS_CUI:C1869115']",['DOID:225']
269,0050476,Barth syndrome,"""A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin."" [url:http\://en.wikipedia.org/wiki/Barth_syndrome, url:http\://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1, url:http\://www.ninds.nih.gov/disorders/barth/barth.htm, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:5890', 'ICD10CM:E78.71', 'MESH:D056889', 'NCI:C84585', 'OMIM:302060', 'SNOMEDCT_US_2022_09_01:297231002', 'UMLS_CUI:C0574083']",['DOID:0060336']
270,0050477,Liddle syndrome,"""A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel."" [url:https\://en.wikipedia.org/wiki/Liddle%27s_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7381', 'MESH:D056929', 'NCI:C84827', 'OMIM:177200', 'SNOMEDCT_US_2022_09_01:707749005', 'UMLS_CUI:C0221043']",['DOID:447']
274,0050485,sennetsu fever,"""A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia."" [url:https\://rarediseases.org/rare-diseases/sennetsu-fever/]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'zoonotic_infectious_disease']","['GARD:120', 'MESH:C537582']",['DOID:0050338']
275,0050486,exanthem,"""A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders."" [url:https\://en.wikipedia.org/wiki/Exanthem]",['NCIthesaurus'],"['ICD10CM:R21', 'ICD9CM:782.1', 'MESH:D005076', 'NCI:C111884', 'SNOMEDCT_US_2022_09_01:112625008', 'UMLS_CUI:C0015230']",['DOID:37']
278,0050489,multinodular goiter,"""A goiter characterized by a multinodular enlargement of the thyroid gland."" [url:http\://en.wikipedia.org/wiki/Multinodular_goitre]",['DO_rare_slim'],"['OMIM:138800', 'OMIM:300273', 'OMIM:606082', 'OMIM:PS138800', 'ORDO:276399']",['DOID:12176']
281,0050495,exanthema subitum,"""A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck."" [url:http\://en.wikipedia.org/wiki/Exanthema_subitum]",['DO_infectious_disease_slim'],"['ICD10CM:B08.2', 'ICD9CM:058.1', 'MESH:D005077', 'SNOMEDCT_US_2022_09_01:54385001', 'UMLS_CUI:C0015231']",['DOID:934']
282,0050508,variola major,"""A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions."" [url:http\://www.who.int/csr/disease/smallpox/en/]",['DO_infectious_disease_slim'],"['ICD9CM:050.0', 'SNOMEDCT_US_2022_09_01:266193008', 'UMLS_CUI:C1812609']",['DOID:8736']
291,0050523,adult T-cell leukemia/lymphoma,"""A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1 (HTLV-1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions."" [url:http\://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C3184]","['DO_cancer_slim', 'DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:13103', 'ICD10CM:C91.5', 'ICDO:9827/3', 'MESH:D015459', 'NCI:C3184', 'SNOMEDCT_US_2022_09_01:77430005', 'UMLS_CUI:C0023493']",['DOID:5603']
292,0050524,maturity-onset diabetes of the young,"""A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects."" [url:http\://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young]",['DO_rare_slim'],"['GARD:3697', 'ICD10CM:E11.8', 'KEGG:04950', 'OMIM:606391', 'ORDO:552']",['DOID:9351']
293,0050526,Gamstorp-Wohlfart syndrome,"""A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs."" [url:http\://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia]",['DO_rare_slim'],"['GARD:12353', 'OMIM:137200']",['DOID:225']
295,0050529,adult spinal muscular atrophy,"""A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons."" [url:https\://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy]",['DO_rare_slim'],"['ICD10CM:G12.1', 'MESH:C563948', 'OMIM:271150', 'ORDO:83420', 'UMLS_CUI:C1838230']",['DOID:12377']
296,0050530,intermediate spinal muscular atrophy,"""A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons."" [url:https\://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2]",['DO_FlyBase_slim'],"['MESH:D014897', 'NCI:C156310', 'OMIM:253550', 'SNOMEDCT_US_2022_09_01:128212001', 'UMLS_CUI:C0393538']",['DOID:0060160']
297,0050534,congenital stationary night blindness,"""A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves."" [url:http\://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3, url:http\://www.ncbi.nlm.nih.gov/books/NBK1245/, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/, url:http\://www.omim.org/entry/610444, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215]",['DO_rare_slim'],"['ICD10CM:H53.63', 'ICD9CM:368.61', 'MESH:C537743', 'OMIM:PS310500', 'ORDO:215', 'SNOMEDCT_US_2022_09_01:193687000', 'UMLS_CUI:C1306122']",['DOID:8498']
298,0050535,exudative vitreoretinopathy,"""A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina."" [url:http\://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy, url:http\://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy]",['DO_rare_slim'],"['GARD:1613', 'ICD10CM:H35.00', 'ICD9CM:362.10', 'OMIM:PS133780', 'ORDO:891', 'SNOMEDCT_US_2022_09_01:193355009', 'UMLS_CUI:C0004608']",['DOID:2462']
300,0050538,Charcot-Marie-Tooth disease type 1,"""A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons."" [url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm]",['DO_rare_slim'],['GARD:12433'],['DOID:10595']
301,0050539,Charcot-Marie-Tooth disease type 2,"""A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell."" [url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/25098539]",['DO_rare_slim'],"['GARD:12431', 'ICD9CM:356.0', 'OMIM:118230', 'OMIM:604484', 'ORDO:64746', 'SNOMEDCT_US_2022_09_01:193158000', 'UMLS_CUI:C0392553']",['DOID:10595']
303,0050541,Charcot-Marie-Tooth disease type 4,"""A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance."" [url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm]",['DO_rare_slim'],"['GARD:12440', 'ORDO:64749']",['DOID:10595']
304,0050542,Charcot-Marie-Tooth disease type X,"""A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene."" [url:http\://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm]",['DO_rare_slim'],['ORDO:64747'],['DOID:10595']
306,0050544,hypermethioninemia,"""An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body."" [url:http\://en.wikipedia.org/wiki/Hypermethioninemia]",['DO_rare_slim'],['MESH:C564683'],['DOID:9252']
307,0050545,visceral heterotaxy,"""A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen."" [url:http\://en.wikipedia.org/wiki/Situs_ambiguus]",['DO_rare_slim'],"['GARD:10875', 'OMIM:306955', 'OMIM:605376', 'OMIM:606325', 'OMIM:613751', 'OMIM:614779', 'OMIM:PS306955', 'ORDO:450']",['DOID:0080015']
309,0050547,familial medullary thyroid carcinoma,"""A thyroid gland medullary carcinoma that has_material_basis_in autosomal dominant inheritance."" [url:https\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia, url:https\://www.omim.org/entry/155240]",['DO_FlyBase_slim'],"['MESH:C536911', 'OMIM:155240']",['DOID:3973']
310,0050548,hereditary sensory neuropathy,"""A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages."" [url:http\://omim.org/entry/616488?search=616488&highlight=616488]",['DO_FlyBase_slim'],"['MESH:D009477', 'OMIM:PS162400']",['DOID:870']
312,0050553,JMP syndrome,"""A syndrome that is characterized by childhood onset of joint stiffness and severe contractures of the hands and feet, erythematous skin lesions with subsequent development of severe lipodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PSMB8 on chromosome 6p21.32."" [url:http\://www.eurekalert.org/pub_releases/2010-12/usmc-rig120110.php, url:https\://www.ncbi.nlm.nih.gov/pubmed/21129723]",['DO_rare_slim'],"['GARD:10988', 'OMIM:256040', 'ORDO:324999']",['DOID:225']
314,0050557,congenital muscular dystrophy,"""A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted."" [url:http\://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/, url:https\://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page]",['DO_rare_slim'],"['GARD:9138', 'ICD9CM:359.0', 'OMIM:254100', 'ORDO:97242', 'SNOMEDCT_US_2022_09_01:193221009', 'UMLS_CUI:C2937300']",['DOID:9884']
315,0050558,Ullrich congenital muscular dystrophy,"""A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen."" [url:https\://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy]",['DO_rare_slim'],"['GARD:4769', 'OMIM:254090']",['DOID:0050557']
316,0050559,Fukuyama congenital muscular dystrophy,"""A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein."" [url:https\://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy]",['DO_rare_slim'],"['GARD:6475', 'OMIM:253800', 'ORDO:272']",['DOID:0111229']
317,0050560,Walker-Warburg syndrome,"""A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1."" [url:https\://ghr.nlm.nih.gov/condition/walker-warburg-syndrome]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:2599', 'MESH:D058494']",['DOID:0050557']
318,0050561,Lennox-Gastaut syndrome,"""A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood."" [url:https\://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome]",['DO_rare_slim'],"['GARD:9912', 'MESH:D065768', 'OMIM:606369', 'ORDO:2382']",['DOID:0050704']
319,0050562,West syndrome,"""An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability."" [url:https\://rarediseases.org/rare-diseases/west-syndrome/, url:https\://www.ncbi.nlm.nih.gov/pubmed/24268986]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7887', 'MESH:D013036', 'NCI:C84788', 'ORDO:3451']",['DOID:0050703']
321,0050564,autosomal dominant nonsyndromic deafness,"""A nonsyndromic deafness characterized by an autosomal dominant inheritance mode."" [url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness]",['DO_rare_slim'],"['ICD10CM:H90.3', 'OMIM:PS124900', 'ORDO:90635']",['DOID:0050563']
322,0050565,autosomal recessive nonsyndromic deafness,"""A nonsyndromic deafness characterized by an autosomal recessive inheritance mode."" [url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness]",['DO_rare_slim'],"['ICD10CM:H90.3', 'OMIM:607197', 'OMIM:PS220290', 'ORDO:90636']",['DOID:0050563']
323,0050566,X-linked nonsyndromic deafness,"""A nonsyndromic deafness characterized by an X-linked inheritance mode."" [url:http\://ghr.nlm.nih.gov/condition/nonsyndromic-deafness]",['DO_rare_slim'],"['ICD10CM:H90.3', 'OMIM:PS304500', 'ORDO:90625']",['DOID:0050563']
325,0050568,spondylocostal dysostosis,"""A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together."" [url:http\://en.wikipedia.org/wiki/Spondylocostal_dysostosis, url:http\://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis]",['DO_rare_slim'],"['GARD:12174', 'OMIM:PS277300', 'ORDO:1797', 'ORDO:2311']",['DOID:1934']
326,0050569,Seckel syndrome,"""A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability."" [url:http\://en.wikipedia.org/wiki/Seckel_syndrome]",['DO_rare_slim'],"['GARD:8562', 'ICD10CM:Q87.1', 'OMIM:PS210600', 'ORDO:808']",['DOID:225']
328,0050571,congenital disorder of glycosylation type II,"""A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain."" [url:http\://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification]",['DO_FlyBase_slim'],"['MESH:C535747', 'OMIM:PS212066']",['DOID:5212']
329,0050572,cone-rod dystrophy,"""A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells."" [url:http\://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy]",['DO_rare_slim'],"['GARD:10790', 'ICD10CM:H35.5', 'ORDO:1872']",['DOID:8466']
330,0050573,2-hydroxyglutaric aciduria,"""An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage."" [url:http\://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria, url:http\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria]",['DO_rare_slim'],"['GARD:10761', 'MESH:C535306']",['DOID:9252']
331,0050574,L-2-hydroxyglutaric aciduria,"""An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia)."" [url:http\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria]",['DO_rare_slim'],"['GARD:10472', 'OMIM:236792', 'ORDO:79314']",['DOID:0050573']
332,0050575,D-2-hydroxyglutaric aciduria,"""An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory."" [url:http\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:5661', 'OMIM:PS600721']",['DOID:0050573']
333,0050576,Senior-Loken syndrome,"""A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease."" [url:https\://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome]",['DO_rare_slim'],"['GARD:322', 'ICD10CM:Q61.5', 'MESH:C537580', 'OMIM:266900', 'OMIM:606995', 'OMIM:606996', 'OMIM:609254', 'OMIM:610189', 'OMIM:613615', 'OMIM:PS266900', 'ORDO:3156']",['DOID:225']
337,0050580,hereditary lymphedema,"""A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system."" [url:http\://en.wikipedia.org/wiki/Milroy%27s_disease]",['DO_rare_slim'],"['GARD:7220', 'ICD9CM:757.0', 'OMIM:PS153100', 'ORDO:79452', 'SNOMEDCT_US_2022_09_01:205542007', 'UMLS_CUI:C1313885']",['DOID:4977']
338,0050581,brachydactyly,"""A dysostosis characterized by short fingers and toes."" [url:http\://en.wikipedia.org/wiki/Brachydactyly]",['DO_rare_slim'],"['GARD:11913', 'MESH:D059327', 'ORDO:294937']",['DOID:1934']
340,0050585,congenital generalized lipodystrophy,"""A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance."" [url:https\://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:13388', 'OMIM:PS608594']",['DOID:0080298']
341,0050587,trichotillomania,"""An impulse control disorder that involves the uncontrollable plucking of ones hair."" [url:https\://en.wikipedia.org/wiki/Trichotillomania]",['DO_rare_slim'],"['GARD:7803', 'MESH:D014256', 'OMIM:613229']",['DOID:10937']
342,0050588,muscular dystrophy-dystroglycanopathy type B1,"""A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase."" [url:https\://www.omim.org/entry/613155]",['DO_rare_slim'],['OMIM:613155'],['DOID:0112375']
343,0050589,inflammatory bowel disease,"""An intestinal disease characterized by inflammation located in all parts of digestive tract."" [url:http\://en.wikipedia.org/wiki/Inflammatory_bowel_disease, url:http\://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908]","['DO_FlyBase_slim', 'NCIthesaurus']","['EFO:0003767', 'KEGG:05321', 'MESH:D015212', 'NCI:C3138', 'OMIM:PS266600', 'SNOMEDCT_US_2022_09_01:155759008', 'UMLS_CUI:C0021390']",['DOID:5295']
344,0050590,severe congenital neutropenia,"""A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections."" [url:https\://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia, url:https\://www.ncbi.nlm.nih.gov/pubmed/17133096]",['DO_rare_slim'],"['GARD:13592', 'ICD10CM:D70', 'OMIM:PS202700', 'ORDO:42738']",['DOID:1227']
345,0050591,tooth agenesis,"""A tooth disease characterized by failure to develop one or more missing teeth."" [url:http\://en.wikipedia.org/wiki/Hypodontia]",['DO_rare_slim'],"['ICD10CM:K00.0', 'ICD9CM:520.0', 'MESH:D000848', 'NCI:C172328', 'OMIM:106600', 'OMIM:150400', 'OMIM:313500', 'OMIM:602639', 'OMIM:604625', 'OMIM:610926', 'OMIM:PS106600', 'ORDO:2227', 'ORDO:99798', 'SNOMEDCT_US_2022_09_01:234951001', 'UMLS_CUI:C0399352']",['DOID:1091']
346,0050592,asphyxiating thoracic dystrophy,"""A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy."" [url:https\://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy]",['DO_rare_slim'],"['ICD10CM:Q77.2', 'OMIM:PS208500', 'ORDO:474']",['DOID:0080006']
349,0050596,taeniasis,"""A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat."" [url:http\://en.wikipedia.org/wiki/Taeniasis]",['DO_infectious_disease_slim'],"['ICD10CM:B68.1', 'ICD9CM:123.2', 'SNOMEDCT_US_2022_09_01:69163003', 'UMLS_CUI:C0152073']",['DOID:883']
350,0050597,intestinal schistosomiasis,"""A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia."" [url:http\://en.wikipedia.org/wiki/Schistosomiasis]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['ICD10CM:B65.1', 'ICD10CM:B65.2', 'ICD9CM:120.1', 'ICD9CM:120.2', 'MESH:D012554', 'MESH:D012555', 'NCI:C35001', 'NCI:C35002', 'NCI:C35364', 'OMIM:181460', 'ORDO:1247', 'SNOMEDCT_US_2022_09_01:187114003', 'SNOMEDCT_US_2022_09_01:52179003', 'SNOMEDCT_US_2022_09_01:750009', 'UMLS_CUI:C0036329', 'UMLS_CUI:C0036330', 'UMLS_CUI:C0276932']",['DOID:1395']
354,0050601,ADULT syndrome,"""A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63."" [url:https\://pubmed.ncbi.nlm.nih.gov/16114047/]",['DO_rare_slim'],"['GARD:384', 'OMIM:103285']",['DOID:225']
355,0050602,triple-A syndrome,"""A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system."" [url:https\://ghr.nlm.nih.gov/condition/triple-a-syndrome]",['DO_rare_slim'],"['GARD:457', 'OMIM:231550']",['DOID:225']
356,0050603,acheiropody,"""An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene."" [url:https\://en.wikipedia.org/wiki/Acheiropodia]",['DO_rare_slim'],"['GARD:376', 'OMIM:200500']",['DOID:2256']
357,0050604,acrocapitofemoral dysplasia,"""An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene."" [url:https\://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia]",['DO_rare_slim'],"['GARD:10605', 'MESH:C564334', 'OMIM:607778']",['DOID:2256']
358,0050605,acrodermatitis enteropathica,"""A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency."" [url:https\://en.wikipedia.org/wiki/Acrodermatitis_enteropathica]",['DO_rare_slim'],"['GARD:5723', 'MESH:C538178', 'OMIM:201100']",['DOID:896']
367,0050619,paranasal sinus cancer,"""A respiratory system cancer that is located_in the paranasal sinuses."" [url:http\://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1]",['NCIthesaurus'],"['MESH:D010255', 'NCI:C6014', 'NCI:C6017', 'NCI:C6018', 'NCI:C6019', 'NCI:C8193', 'UMLS_CUI:C0280334', 'UMLS_CUI:C0854995', 'UMLS_CUI:C1335336', 'UMLS_CUI:C1335337', 'UMLS_CUI:C1335340']",['DOID:0050615']
373,0050625,biliary tract benign neoplasm,"""A hepatobiliary benign neoplasm located_in the biliary tract."" [url:http\://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract]",['NCIthesaurus'],"['NCI:C4441', 'SNOMEDCT_US_2022_09_01:126855001', 'UMLS_CUI:C0345913']",['DOID:3117']
375,0050628,advanced sleep phase syndrome,"""A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning."" [url:http\://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome]",['DO_rare_slim'],"['OMIM:PS604348', 'ORDO:164736']",['DOID:535']
376,0050629,Aicardi-Goutieres syndrome,"""A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections."" [url:http\://omim.org/entry/225750, url:http\://www.ncbi.nlm.nih.gov/books/NBK1475/]",['DO_rare_slim'],"['GARD:575', 'ICD10CM:G31.8', 'OMIM:225750', 'OMIM:610181', 'OMIM:610329', 'OMIM:610333', 'OMIM:612952', 'OMIM:615010', 'OMIM:615846', 'OMIM:PS225750', 'ORDO:51']",['DOID:225']
377,0050630,Aland Island eye disease,"""An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene."" [url:https\://www.omim.org/entry/300600]",['DO_rare_slim'],"['GARD:10574', 'MESH:C562664', 'OMIM:300600']",['DOID:5614']
378,0050631,Allan-Herndon-Dudley syndrome,"""A syndrome that has_material_basis_in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement."" [url:http\://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome, url:http\://omim.org/entry/300523]",['DO_rare_slim'],"['GARD:5617', 'MESH:C537047', 'OMIM:300523', 'ORDO:59']",['DOID:225']
379,0050632,oculocutaneous albinism,"""A syndrome characterized by abnormal pigmentation of the skin, hair and eyes."" [url:http\://en.wikipedia.org/wiki/Oculocutaneous_albinism, url:http\://ghr.nlm.nih.gov/condition/oculocutaneous-albinism]",['DO_rare_slim'],"['GARD:10958', 'ICD10CM:E70.3', 'MESH:D016115', 'OMIM:PS203100', 'ORDO:55']",['DOID:225']
381,0050634,alopecia universalis,"""An alopecia characterized by the complete loss of hair on the scalp and body."" [url:https\://rarediseases.info.nih.gov/diseases/614/alopecia-universalis]",['DO_rare_slim'],"['GARD:614', 'MESH:C537055', 'OMIM:203655']",['DOID:987']
382,0050635,alternating hemiplegia of childhood,"""A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body."" [url:http\://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood, url:http\://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood]",['DO_rare_slim'],"['GARD:11', 'ICD10CM:G98', 'MESH:C536589', 'OMIM:104290', 'OMIM:614820', 'OMIM:PS104290', 'ORDO:2131']",['DOID:10969']
383,0050636,familial visceral amyloidosis,"""An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys."" [url:https\://en.wikipedia.org/wiki/Familial_renal_amyloidosis]",['DO_rare_slim'],"['GARD:8282', 'OMIM:105200', 'ORDO:85450']",['DOID:9120']
384,0050637,Finnish type amyloidosis,"""An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa."" [url:https\://rarediseases.info.nih.gov/diseases/2339/familial-amyloidosis-finnish-type]",['DO_rare_slim'],"['GARD:2339', 'OMIM:105120', 'ORDO:85448']",['DOID:9120']
385,0050638,transthyretin amyloidosis,"""An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene."" [url:http\://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis, url:http\://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1194/, url:http\://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451, url:http\://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25, url:https\://www.ncbi.nlm.nih.gov/books/NBK1194/, url:https\://www.ncbi.nlm.nih.gov/pubmed/19372706]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:656', 'ICD10CM:E85.82', 'OMIM:105210', 'ORDO:85447']",['DOID:9120']
386,0050639,primary cutaneous amyloidosis,"""An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19663869]",['DO_rare_slim'],"['GARD:132', 'OMIM:PS105250', 'ORDO:137807', 'ORDO:353220']",['DOID:9120']
387,0050640,anauxetic dysplasia 1,"""An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13."" [url:https\://pubmed.ncbi.nlm.nih.gov/16252239/, url:https\://www.ncbi.nlm.nih.gov/books/NBK84550/]",['DO_rare_slim'],['OMIM:607095'],['DOID:0080942']
388,0050641,Rh deficiency syndrome,"""A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12."" [url:https\://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/3103426]",['DO_rare_slim'],"['GARD:12916', 'MESH:C562717', 'OMIM:268150']",['DOID:583']
390,0050644,arterial calcification of infancy,"""A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall."" [url:http\://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification, url:http\://www.omim.org/entry/208000]",['DO_rare_slim'],"['GARD:8380', 'MESH:C537440', 'OMIM:208000', 'OMIM:614473', 'ORDO:51608']",['DOID:178']
391,0050645,arterial tortuosity syndrome,"""A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta."" [url:http\://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome, url:http\://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome]",['DO_rare_slim'],"['GARD:774', 'MESH:C565942', 'OMIM:208050']",['DOID:65']
392,0050646,distal arthrogryposis,"""A muscle tissue disease characterized by congenital joint contractures of hand and feet."" [url:http\://en.wikipedia.org/wiki/Arthrogryposis]",['DO_rare_slim'],"['GARD:786', 'OMIM:PS108120', 'ORDO:1147', 'ORDO:97120']",['DOID:66']
393,0050647,Arts syndrome,"""An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene."" [url:http\://ghr.nlm.nih.gov/condition/arts-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK2591/, url:http\://www.omim.org/entry/301835, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301738]",['DO_rare_slim'],"['GARD:8756', 'MESH:C535388', 'OMIM:301835', 'ORDO:1187', 'SNOMEDCT_US_2022_09_01:702441001', 'UMLS_CUI:C0796028']",['DOID:0060309']
395,0050649,atransferrinemia,"""A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22."" [url:https\://en.wikipedia.org/wiki/Atransferrinemia, url:https\://www.ncbi.nlm.nih.gov/pubmed/29969719, url:https\://www.omim.org/entry/209300]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9595', 'NCI:C125693', 'OMIM:209300', 'ORDO:1195']",['DOID:896']
396,0050650,familial atrial fibrillation,"""An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes."" [url:http\://en.wikipedia.org/wiki/Familial_atrial_fibrillation]",['DO_rare_slim'],"['GARD:9740', 'OMIM:607554', 'OMIM:608583', 'OMIM:608988', 'OMIM:611493', 'OMIM:611494', 'OMIM:612201', 'OMIM:612240', 'OMIM:613055', 'OMIM:613980', 'OMIM:614022', 'OMIM:614049', 'OMIM:614050', 'OMIM:615377', 'OMIM:615378', 'OMIM:615770', 'OMIM:PS608583', 'ORDO:334']",['DOID:0060224']
397,0050651,atrioventricular septal defect,"""A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs."" [url:http\://en.wikipedia.org/wiki/Atrioventricular_septal_defect, url:http\://www.cdc.gov/ncbddd/heartdefects/avsd.html]",['DO_rare_slim'],"['GARD:802', 'ICD10CM:Q21.2', 'ICD9CM:745.6', 'MESH:D004694', 'OMIM:606215', 'OMIM:614430', 'OMIM:614474', 'ORDO:98722', 'SNOMEDCT_US_2022_09_01:204322008', 'UMLS_CUI:C0014116']",['DOID:1681']
398,0050654,Baller-Gerold syndrome,"""A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone."" [url:http\://en.wikipedia.org/wiki/Baller%E2%80%93Gerold_syndrome, url:http\://ghr.nlm.nih.gov/condition/baller-gerold-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK1204/]",['DO_rare_slim'],"['GARD:1602', 'MESH:C536788', 'OMIM:218600', 'ORDO:1223', 'SNOMEDCT_US_2022_09_01:77608001', 'UMLS_CUI:C0265308']",['DOID:11971']
400,0050656,pseudo-TORCH syndrome 1,"""A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in OCLN on chromosome 5q13.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20727516]",['DO_rare_slim'],"['GARD:12426', 'OMIM:251290', 'ORDO:1229']",['DOID:225']
401,0050657,Bannayan-Riley-Ruvalcaba syndrome,"""A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23."" [url:https\://en.wikipedia.org/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome, url:https\://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1488/, url:https\://www.ncbi.nlm.nih.gov/pubmed/31062505]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5887', 'ICD10CM:Q87.89', 'MESH:D006223', 'NCI:C3939', 'OMIM:158350', 'ORDO:109']",['DOID:6457']
404,0050660,Beare-Stevenson cutis gyrata syndrome,"""A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26."" [url:https\://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome]",['DO_rare_slim'],"['GARD:332', 'OMIM:123790']",['DOID:225']
405,0050661,vitelliform macular dystrophy,"""A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss."" [url:http\://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy]",['DO_rare_slim'],"['GARD:10120', 'GARD:182', 'ICD10CM:H35.5', 'MESH:D057826', 'OMIM:153700', 'OMIM:153840', 'OMIM:608161', 'OMIM:616151', 'OMIM:616152', 'ORDO:1243', 'ORDO:99000']",['DOID:4448']
407,0050663,Bethlem myopathy,"""A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene."" [url:https\://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy]",['DO_rare_slim'],"['GARD:873', 'MESH:C535436', 'OMIM:158810']",['DOID:0050557']
408,0050664,Bietti crystalline corneoretinal dystrophy,"""A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35."" [url:https\://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy]",['DO_rare_slim'],"['GARD:10050', 'OMIM:210370']",['DOID:8466']
414,0050670,ataxic cerebral palsy,"""A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing."" [url:http\://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic, url:http\://www.brainandspinalcord.org/cerebral-palsy/types/ataxic-cerebral-palsy.html]",['DO_rare_slim'],"['GARD:10451', 'OMIM:605388']",['DOID:1969']
418,0050674,congenital bile acid synthesis defect,"""A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver."" [url:https\://rarediseases.org/rare-diseases/bile-acid-synthesis-disorders/, url:https\://www.ncbi.nlm.nih.gov/pubmed/12543708]",['DO_rare_slim'],"['ICD10CM:K76.8', 'ORDO:485631']",['DOID:1701']
419,0050675,Birk-Barel syndrome,"""A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24."" [url:https\://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy]",['DO_rare_slim'],"['GARD:10358', 'MESH:C567357', 'OMIM:612292']",['DOID:225']
420,0050676,Birt-Hogg-Dube syndrome,"""A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11."" [url:https\://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:2322', 'MESH:D058249', 'OMIM:135150']",['DOID:37']
421,0050677,Bjornstad syndrome,"""A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35."" [url:https\://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/]",['DO_rare_slim'],"['GARD:22', 'MESH:C537633', 'OMIM:262000', 'ORDO:123', 'SNOMEDCT_US_2022_09_01:67817003', 'UMLS_CUI:C0266006']",['DOID:225']
422,0050678,Blau syndrome,"""A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene."" [url:http\://en.wikipedia.org/wiki/Blau_syndrome, url:http\://www.omim.org/entry/186580?search=186580&highlight=186580]","['DO_rare_slim', 'NCIthesaurus']","['GARD:304', 'MESH:C538157', 'NCI:C116794', 'OMIM:186580']",['DOID:225']
423,0050679,blue cone monochromacy,"""An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance."" [url:http\://omim.org/entry/303700, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16]",['DO_rare_slim'],"['GARD:917', 'OMIM:303700']",['DOID:13911']
424,0050680,Boomerang dysplasia,"""An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14."" [url:https\://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia]",['DO_rare_slim'],"['GARD:933', 'MESH:C536573', 'OMIM:112310']",['DOID:2256']
425,0050681,Borjeson-Forssman-Lehmann syndrome,"""An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene."" [url:http\://rarediseases.info.nih.gov/gard/936/borjeson-forssman-lehmann-syndrome/resources/1, url:http\://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html]",['DO_rare_slim'],"['GARD:936', 'MESH:C536575', 'NCI:C157122', 'OMIM:301900', 'ORDO:127', 'SNOMEDCT_US_2022_09_01:21634003', 'UMLS_CUI:C0265339']",['DOID:0060309']
426,0050682,Athabaskan brainstem dysgenesis syndrome,"""A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18412118, url:https\://www.omim.org/entry/601536]",['DO_rare_slim'],"['OMIM:601536', 'ORDO:69739']",['DOID:936']
428,0050684,Bowen-Conradi syndrome,"""A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19463982, url:https\://www.omim.org/entry/211180]",['DO_rare_slim'],"['GARD:5950', 'MESH:C537081', 'OMIM:211180', 'ORDO:1270', 'SNOMEDCT_US_2022_09_01:711153001', 'UMLS_CUI:C1859405']",['DOID:225']
429,0050685,small cell carcinoma,"""A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells."" [url:http\://en.wikipedia.org/wiki/Small_cell_carcinoma]",['NCIthesaurus'],"['ICDO:8041/3', 'NCI:C4099', 'SNOMEDCT_US_2022_09_01:5958006', 'UMLS_CUI:C0334239']",['DOID:305']
434,0050690,brachyolmia,"""An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10968486]",['DO_rare_slim'],"['GARD:10903', 'MESH:C537098', 'OMIM:113500', 'OMIM:271530', 'OMIM:271630', 'OMIM:613678', 'ORDO:1293']",['DOID:2256']
435,0050691,branchiooculofacial syndrome,"""A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts."" [url:http\://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK55063/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract]",['DO_rare_slim'],"['GARD:3212', 'OMIM:113620']",['DOID:225']
436,0050692,Brody myopathy,"""A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles."" [url:https\://ghr.nlm.nih.gov/condition/brody-myopathy, url:https\://rarediseases.info.nih.gov/gard/9158/brody-myopathy/case/23360/case-questions]",['DO_rare_slim'],"['GARD:9158', 'MESH:C536607', 'OMIM:601003']",['DOID:440']
437,0050693,Brooke-Spiegler syndrome,"""A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12."" [url:https\://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome]",['DO_rare_slim'],"['GARD:10179', 'OMIM:605041', 'ORDO:79493', 'SNOMEDCT_US_2022_09_01:703531009', 'UMLS_CUI:C1857941']",['DOID:37']
443,0050699,Dent disease,"""A renal tubular transport disease that is characterized by  tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene."" [url:http\://en.wikipedia.org/wiki/Dent%27s_disease, url:http\://ghr.nlm.nih.gov/condition/dent-disease, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652]","['DO_rare_slim', 'NCIthesaurus']","['GARD:13105', 'MESH:C538212', 'MESH:C564487', 'MESH:D057973', 'NCI:C123260', 'OMIM:300009', 'OMIM:300555', 'ORDO:1652', 'SNOMEDCT_US_2022_09_01:444645005', 'SNOMEDCT_US_2022_09_01:717789008', 'SNOMEDCT_US_2022_09_01:717790004', 'UMLS_CUI:C0878681', 'UMLS_CUI:C1845167', 'UMLS_CUI:C1848336']",['DOID:447']
444,0050700,cardiomyopathy,"""A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle."" [url:http\://en.wikipedia.org/wiki/Cardiomyopathy, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/cm/]","['DO_FlyBase_slim', 'DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:I42', 'ICD9CM:425', 'ICD9CM:425.9', 'MESH:D009202', 'NCI:C34830', 'NCI:C53654', 'SNOMEDCT_US_2022_09_01:266301006', 'SNOMEDCT_US_2022_09_01:89461002', 'SNOMEDCT_US_2022_09_01:89600009', 'UMLS_CUI:C0033141', 'UMLS_CUI:C0036529', 'UMLS_CUI:C0878544']",['DOID:114']
452,0050709,early infantile epileptic encephalopathy,"""A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures."" [url:http\://en.wikipedia.org/wiki/Ohtahara_syndrome, url:http\://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm]",['DO_rare_slim'],"['GARD:9255', 'ORDO:1934']",['DOID:0050702']
453,0050710,3-methylcrotonyl-CoA carboxylase deficiency,"""An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy."" [url:http\://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency, url:http\://omim.org/entry/210200]",['DO_rare_slim'],"['GARD:10954', 'OMIM:PS210200', 'ORDO:6']",['DOID:9252']
454,0050711,aceruloplasminemia,"""An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus."" [url:http\://en.wikipedia.org/wiki/Aceruloplasminemia, url:http\://omim.org/entry/604290?search=604290&highlight=604290]",['DO_rare_slim'],"['GARD:9499', 'OMIM:604290']",['DOID:2351']
456,0050713,fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency,"""A mitochondrial metabolism disease that has_material_basis_in a deficiency of cytochrome c oxidase."" [url:http\://omim.org/entry/604377]",['DO_rare_slim'],['ORDO:1561'],['DOID:700']
472,0050730,coenzyme Q10 deficiency disease,"""A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis."" [url:http\://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity]",['DO_rare_slim'],"['GARD:10423', 'OMIM:PS607426']",['DOID:700']
482,0050740,Qazi Markouizos syndrome,"""A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation."" [url:http\://omim.org/entry/600096, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3010]",['DO_rare_slim'],"['GARD:371', 'MESH:C536259', 'OMIM:600096']",['DOID:225']
483,0050741,alcohol dependence,"""A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol."" [url:https\://en.wikipedia.org/wiki/Alcohol_dependence]","['DO_FlyBase_slim', 'NCIthesaurus']","['EFO:0003829', 'KEGG:05034', 'OMIM:103780', 'SNOMEDCT_US_2021_09_01:66590003']",['DOID:9973']
484,0050742,nicotine dependence,"""A substance dependence that is characterized by a physical dependence on nicotine."" [url:https\://en.wikipedia.org/wiki/Nicotine_dependence]",['NCIthesaurus'],"['EFO:0003768', 'ICD10CM:F17', 'MESH:D014029', 'NCI:C54203', 'SNOMEDCT_US_2022_09_01:56294008', 'UMLS_CUI:C0028043']",['DOID:9973']
486,0050744,anaplastic large cell lymphoma,"""A non-Hodgkin lymphoma involving aberrant T-cells."" [url:http\://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology]",['DO_cancer_slim'],"['ICDO:9714/3', 'NCI:C3720']",['DOID:0060060']
487,0050745,diffuse large B-cell lymphoma,"""A B-cell lymphoma that is a cancer of B cells presenting as an aggressive tumour which can arise in virtually any part of the body."" [url:http\://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma, url:https\://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C148392, url:https\://www.ncbi.nlm.nih.gov/pubmed/28487884]","['DO_cancer_slim', 'DO_rare_slim']","['GARD:3178', 'ICDO:9680/3', 'MESH:D016403', 'NCI:C80280']",['DOID:707']
488,0050746,mantle cell lymphoma,"""A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles."" [url:http\://en.wikipedia.org/wiki/Mantle_cell_lymphoma]","['DO_cancer_slim', 'DO_rare_slim']","['GARD:6969', 'ICDO:9673/3', 'MESH:D020522']",['DOID:707']
489,0050748,marginal zone lymphoma,"""A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by  the presence of small to medium sized atypical lymphocytes."" [url:http\://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=562554]",['DO_cancer_slim'],"['ICDO:9699/3', 'MESH:D018442']",['DOID:707']
490,0050749,peripheral T-cell lymphoma,"""A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus."" [url:http\://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma]","['DO_cancer_slim', 'DO_rare_slim']",['GARD:7368'],['DOID:0050743']
492,0050751,T-cell large granular lymphocyte leukemia,"""A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood."" [url:http\://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia]",['DO_cancer_slim'],"['ICDO:9831/3', 'NCI:C4664']",['DOID:5603']
493,0050752,amyotrophic lateral sclerosis type 8,"""An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20."" [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/608627]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:10499', 'OMIM:608627']",['DOID:332']
495,0050754,ataxia with oculomotor apraxia type 1,"""An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene."" [url:https\://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1]",['DO_rare_slim'],"['GARD:9283', 'OMIM:208920']",['DOID:0050950']
497,0050757,deafness-dystonia-optic neuronopathy syndrome,"""A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria."" [url:http\://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome, url:http\://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome, url:http\://omim.org/entry/304700, url:http\://www.ncbi.nlm.nih.gov/books/NBK1216/]",['DO_rare_slim'],"['MESH:C535808', 'OMIM:304700', 'ORDO:3213']",['DOID:700']
499,0050759,myotonic dystrophy type 2,"""A myotonic disease that is characterized by myotonia and progressive, proximal muscle  wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one."" [url:http\://ghr.nlm.nih.gov/condition/myotonic-dystrophy, url:http\://www.ncbi.nlm.nih.gov/books/NBK1466/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9728', 'ICD10CM:G71.1', 'ICD9CM:359.2', 'MESH:D020967', 'NCI:C84913', 'OMIM:602668', 'ORDO:606', 'SNOMEDCT_US_2022_09_01:155096007', 'UMLS_CUI:C0553604']",['DOID:450']
500,0050760,X-linked myopathy with excessive autophagy,"""A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28."" [url:https\://rarediseases.org/rare-diseases/x-linked-myopathy-with-excessive-autophagy/]",['DO_rare_slim'],"['GARD:3892', 'OMIM:310440']",['DOID:423']
501,0050762,adenylosuccinase lyase deficiency,"""An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency."" [url:https\://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency]",['DO_rare_slim'],"['GARD:550', 'OMIM:103050']",['DOID:9252']
502,0050763,ARC syndrome,"""A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3."" [url:http\://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/16896922, url:https\://www.ncbi.nlm.nih.gov/pubmed/22753090, url:https\://www.ncbi.nlm.nih.gov/pubmed/24415890]","['DO_FlyBase_slim', 'DO_rare_slim']","['OMIM:PS208085', 'ORDO:2697']",['DOID:225']
503,0050764,Armfield syndrome,"""A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet  and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10398235]",['DO_rare_slim'],"['ICD10CM:Q87.8', 'OMIM:300261', 'ORDO:85276']",['DOID:0060309']
504,0050765,neuroacanthocytosis,"""A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders."" [url:https\://en.wikipedia.org/wiki/Neuroacanthocytosis, url:https\://rarediseases.org/rare-diseases/neuroacanthocytosis/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1387/]",['DO_rare_slim'],"['GARD:10902', 'MESH:D054546', 'ORDO:263440']",['DOID:1289']
505,0050766,choreaacanthocytosis,"""A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21."" [url:https\://en.wikipedia.org/wiki/Chorea_acanthocytosis, url:https\://ghr.nlm.nih.gov/condition/chorea-acanthocytosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/9382101]","['DO_rare_slim', 'NCIthesaurus']","['GARD:3956', 'MESH:D054546', 'NCI:C84926', 'OMIM:200150', 'ORDO:2388', 'SNOMEDCT_US_2022_09_01:26848004', 'UMLS_CUI:C0393576']",['DOID:0050765']
507,0050768,"mitochondrial complex V (ATP synthase) deficiency, nuclear type 1","""A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11."" [url:http\://omim.org/entry/604273]",['DO_rare_slim'],"['ICD10CM:E88.8', 'OMIM:604273', 'ORDO:254913']",['DOID:0111143']
508,0050769,N syndrome,"""A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity."" [url:https\://rarediseases.info.nih.gov/diseases/3902/n-syndrome]",['DO_rare_slim'],"['GARD:3902', 'MESH:C536108', 'OMIM:310465', 'ORDO:2608']",['DOID:225']
509,0050770,polycystic liver disease,"""A liver disease that is characterized by the presence of multiple cysts located_in the liver."" [url:https\://rarediseases.org/rare-diseases/polycystic-liver-disease/]",['DO_rare_slim'],"['GARD:9457', 'MESH:C536330', 'OMIM:174050']",['DOID:409']
510,0050771,pheochromocytoma,"""An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure."" [url:https\://en.wikipedia.org/wiki/Pheochromocytoma, url:https\://rarediseases.info.nih.gov/diseases/7385/pheochromocytoma, url:https\://www.mayoclinic.org/diseases-conditions/pheochromocytoma/symptoms-causes/syc-20355367, url:https\://www.omim.org/entry/171300]","['DO_cancer_slim', 'DO_rare_slim']","['GARD:7385', 'ICDO:8700/3', 'MESH:D010673', 'OMIM:171300']",['DOID:0060089']
512,0050773,paraganglioma,"""A pheochromocytoma that arises in extraadrenal sympathetic ganglia."" [url:https\://en.wikipedia.org/wiki/Paraganglioma, url:https\://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8680/3', 'MESH:D010235', 'NCI:C3308', 'OMIM:115310', 'OMIM:168000', 'OMIM:601650', 'OMIM:605373', 'OMIM:614165', 'OMIM:PS168000', 'SNOMEDCT_US_2022_09_01:302833002', 'UMLS_CUI:C0030421']",['DOID:0050771']
513,0050774,rapadilino syndrome,"""A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24."" [url:https\://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome]",['DO_rare_slim'],"['GARD:4637', 'MESH:C535288', 'OMIM:266280', 'ORDO:3021', 'SNOMEDCT_US_2022_09_01:702413000', 'UMLS_CUI:C1849453']",['DOID:225']
514,0050775,schneckenbecken dysplasia,"""An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31."" [url:https\://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia]",['DO_rare_slim'],"['GARD:169', 'MESH:C536637', 'OMIM:269250']",['DOID:2256']
515,0050776,non-syndromic X-linked intellectual disability,"""A non-syndromic intellectual disability characterized by a X-linked inheritance pattern."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7011032]","['DO_FlyBase_slim', 'DO_rare_slim']","['OMIM:300716', 'OMIM:PS309530', 'ORDO:777']",['DOID:0050889']
516,0050777,Joubert syndrome,"""A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones."" [url:http\://en.wikipedia.org/wiki/Joubert_syndrome, url:http\://omim.org/entry/213300?search=joubert&highlight=joubert]",['DO_rare_slim'],"['GARD:6802', 'ICD10CM:Q04.3', 'OMIM:PS213300', 'ORDO:475']",['DOID:0060340']
517,0050778,Meckel syndrome,"""A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia."" [url:http\://en.wikipedia.org/wiki/Meckel_syndrome, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract]",['DO_rare_slim'],"['GARD:3436', 'ICD9CM:753.1', 'OMIM:PS249000', 'ORDO:564', 'SNOMEDCT_US_2022_09_01:204954005', 'UMLS_CUI:C0311245']",['DOID:0060340']
518,0050779,hydrolethalus syndrome,"""A syndrome characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation."" [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33, url:https\://www.ncbi.nlm.nih.gov/pubmed/15843405]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:6683', 'ICD10CM:Q87.8', 'MESH:C536079', 'OMIM:PS236680', 'ORDO:2189']",['DOID:225']
519,0050781,Ogden syndrome,"""A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28."" [url:https\://en.wikipedia.org/wiki/Ogden_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/21700266]",['DO_rare_slim'],"['OMIM:300855', 'ORDO:276432']",['DOID:225']
520,0050782,Zollinger-Ellison syndrome,"""A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach."" [url:http\://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract, url:https\://www.ncbi.nlm.nih.gov/pubmed/28949124, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/zollinger-ellison-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7918', 'ICD10CM:E16.4', 'MESH:D015043', 'NCI:C3453', 'SNOMEDCT_US_2022_09_01:267477002', 'UMLS_CUI:C0043515']",['DOID:225']
524,0050786,iridogoniodysgenesis syndrome,"""An iris disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene."" [url:http\://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome, url:http\://rarediseases.info.nih.gov/gard/3026/disease/resources/1, url:https\://www.ncbi.nlm.nih.gov/pubmed/19175065]",['DO_rare_slim'],"['OMIM:137600', 'OMIM:601631', 'ORDO:98634']",['DOID:240']
525,0050787,juvenile polyposis syndrome,"""A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum."" [url:http\://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome, url:http\://www.cancer.net/cancer-types/juvenile-polyposis-syndrome, url:http\://www.ncbi.nlm.nih.gov/books/NBK1469/]","['DO_cancer_slim', 'DO_FlyBase_slim', 'DO_rare_slim']","['GARD:3065', 'MESH:C537702', 'OMIM:174900']",['DOID:77']
526,0050788,proximal symphalangism,"""A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness."" [url:http\://rarediseases.info.nih.gov/gard/8182/cushings-symphalangism/resources/1]",['DO_rare_slim'],"['GARD:8182', 'KEGG:H00484', 'OMIM:PS185800', 'ORDO:3250']",['DOID:225']
527,0050789,tarsal-carpal coalition syndrome,"""A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion."" [url:http\://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/22326510]",['DO_rare_slim'],"['GARD:9225', 'OMIM:186570', 'ORDO:1412']",['DOID:1934']
528,0050790,fibular hypoplasia and complex brachydactyly,"""An acromesomelic dysplasia that is characterised by severe reduction or absence of the fibula and complex brachydactyly."" [url:https\://en.wikipedia.org/wiki/Acromesomelic_dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/16222676]",['DO_rare_slim'],"['KEGG:H00467', 'MESH:C537931', 'OMIM:228900', 'ORDO:2639']",['DOID:0080049']
529,0050791,persistent Mullerian duct syndrome,"""A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male."" [url:http\://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome, url:http\://omim.org/entry/261550?search=261550&highlight=261550, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856, url:https\://www.ncbi.nlm.nih.gov/pubmed/20352001]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8435', 'MESH:C536665', 'NCI:C120188', 'OMIM:261550', 'SNOMEDCT_US_2022_09_01:702358005', 'UMLS_CUI:C1849930']",['DOID:3765']
530,0050792,multiple cutaneous and mucosal venous malformations,"""A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21."" [url:http\://omim.org/entry/600195?search=600195&highlight=600195, url:https\://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations/, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301733]",['DO_rare_slim'],"['MESH:C563977', 'OMIM:600195', 'ORDO:2451', 'SNOMEDCT_US_2022_09_01:699301008', 'UMLS_CUI:C1838437']",['DOID:866']
532,0050794,multiple synostoses syndrome,"""A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion."" [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/]",['DO_rare_slim'],"['OMIM:PS186500', 'ORDO:3237']",['DOID:1934']
533,0050795,cone dystrophy,"""A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision."" [url:http\://en.wikipedia.org/wiki/Cone_dystrophy, url:http\://rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract, url:http\://www.ncbi.nlm.nih.gov/books/NBK1418/]",['DO_rare_slim'],"['GARD:11897', 'MESH:D000077765']",['DOID:5679']
534,0050796,achalasia microcephaly syndrome,"""A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections)."" [url:http\://omim.org/entry/200450, url:http\://rarediseases.info.nih.gov/gard/456/disease/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=929&lng=EN]",['DO_rare_slim'],"['GARD:456', 'MESH:C536010', 'OMIM:200450', 'SNOMEDCT_US_2022_09_01:718573009', 'UMLS_CUI:C1860212']",['DOID:225']
537,0050799,guanidinoacetate methyltransferase deficiency,"""A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13."" [url:https\://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency]",['DO_rare_slim'],"['GARD:2578', 'MESH:C537622', 'OMIM:612736']",['DOID:0050798']
539,0050801,androgenic alopecia,"""An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males."" [url:https\://ghr.nlm.nih.gov/condition/androgenetic-alopecia]",['DO_rare_slim'],"['GARD:9269', 'OMIM:109200', 'OMIM:300710', 'OMIM:612421']",['DOID:987']
540,0050802,Ehlers-Danlos syndrome spondylodysplastic type 2,"""An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene."" [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001468.htm]",['DO_rare_slim'],"['OMIM:615349', 'ORDO:75496', 'SNOMEDCT_US_2022_09_01:720861000', 'UMLS_CUI:C1869122']",['DOID:13359']
545,0050807,Kahrizi syndrome,"""A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene."" [url:http\://omim.org/entry/612713?search=Kahrizi%20syndrome&highlight=syndromic%20kahrizi%20syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972]",['DO_rare_slim'],"['MESH:C567196', 'OMIM:612713', 'ORDO:168972']",['DOID:225']
548,0050811,congenital adrenal hyperplasia,"""A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency."" [url:http\://omim.org/entry/201710, url:http\://www.genome.jp/dbget-bin/www_bget?ds\:H00216, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0]",['DO_rare_slim'],"['GARD:1465', 'GARD:1467', 'ICD10CM:E25', 'ICD9CM:255.2', 'OMIM:201710', 'OMIM:201810', 'OMIM:201910', 'OMIM:202010', 'OMIM:202110', 'ORDO:418', 'SNOMEDCT_US_2022_09_01:154706003', 'UMLS_CUI:C0701163']",['DOID:1701']
551,0050814,temtamy preaxial brachydactyly syndrome,"""A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene."" [url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417, url:http\://www.sciencedirect.com/science/article/pii/S1769721213002449, url:https\://www.ncbi.nlm.nih.gov/pubmed/21129728]",['DO_rare_slim'],"['GARD:9679', 'MESH:C536958', 'OMIM:605282', 'ORDO:363417', 'SNOMEDCT_US_2022_09_01:777998000', 'UMLS_CUI:C1854466']",['DOID:225']
552,0050816,urofacial syndrome,"""A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding."" [url:http\://en.wikipedia.org/wiki/Urofacial_syndrome, url:http\://omim.org/entry/236730, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2704]",['DO_rare_slim'],"['GARD:2781', 'MESH:C536480', 'OMIM:236730', 'OMIM:615112', 'OMIM:PS236730', 'ORDO:2704']",['DOID:225']
553,0050817,Stargardt disease,"""An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness."" [url:http\://en.wikipedia.org/wiki/Stargardt_disease]",['DO_rare_slim'],"['GARD:181', 'MESH:D000080362', 'OMIM:248200', 'OMIM:600110', 'OMIM:603786']",['DOID:10871']
555,0050820,atrioventricular block,"""A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart."" [url:http\://en.wikipedia.org/wiki/Atrioventricular_block]",['NCIthesaurus'],"['ICD10CM:I44.3', 'ICD9CM:426.10', 'MESH:D054537', 'NCI:C26703', 'SNOMEDCT_US_2022_09_01:58547007', 'UMLS_CUI:C0004245']",['DOID:10273']
566,0050831,familial encephalopathy with neuroserpin inclusion bodies,"""A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern."" [url:http\://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies, url:http\://www.jbc.org/content/277/19/17367, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:10037', 'MESH:C536841', 'OMIM:604218']",['DOID:1289']
569,0050834,CHARGE syndrome,"""A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina."" [url:http\://en.wikipedia.org/wiki/CHARGE_syndrome, url:http\://ghr.nlm.nih.gov/condition/charge-syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:29', 'MESH:D058747', 'NCI:C75100', 'OMIM:214800', 'ORDO:138', 'SNOMEDCT_US_2022_09_01:47535005', 'UMLS_CUI:C0265354', 'UMLS_CUI:C2936502']",['DOID:225']
570,0050835,generalized dystonia,"""A dystonia that affects most or all of the body."" [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]","['DO_FlyBase_slim', 'NCIthesaurus']","['ICD10CM:G24.1', 'ICD10CM:G24.2', 'ICD9CM:333.6', 'ICD9CM:333.8', 'MESH:D004422', 'MESH:D020821', 'NCI:C34564', 'NCI:C35437', 'NCI:C35438', 'NCI:C35527', 'SNOMEDCT_US_2022_09_01:192852006', 'SNOMEDCT_US_2022_09_01:192859002', 'SNOMEDCT_US_2022_09_01:22451001', 'SNOMEDCT_US_2022_09_01:230321007', 'SNOMEDCT_US_2022_09_01:267584007', 'UMLS_CUI:C0013423', 'UMLS_CUI:C0154674', 'UMLS_CUI:C0154675', 'UMLS_CUI:C0393598', 'UMLS_CUI:C0393601', 'UMLS_CUI:C0752207']",['DOID:543']
571,0050836,focal dystonia,"""A dystonia that is localized to a specific part of the body."" [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]",['DO_rare_slim'],['GARD:6458'],['DOID:543']
575,0050840,cervical dystonia,"""A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards."" [url:http\://en.wikipedia.org/wiki/Spasmodic_torticollis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1155/]",['DO_rare_slim'],['GARD:10668'],['DOID:0050836']
582,0050847,sleep apnea,"""A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep."" [url:http\://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/]",['NCIthesaurus'],"['ICD10CM:G47.3', 'ICD9CM:780.57', 'MESH:D012891', 'NCI:C26884', 'SNOMEDCT_US_2022_09_01:206750008', 'UMLS_CUI:C0037315']",['DOID:535']
583,0050848,obstructive sleep apnea,"""A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep."" [url:http\://en.wikipedia.org/wiki/Obstructive_sleep_apnea, url:http\://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000811.htm, url:https\://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1]",['NCIthesaurus'],"['ICD10CM:G47.33', 'ICD9CM:327.23', 'MESH:D020181', 'NCI:C116337', 'OMIM:107650', 'SNOMEDCT_US_2022_09_01:194441007', 'UMLS_CUI:C0520679']",['DOID:0050847']
589,0050854,Muckle-Wells syndrome,"""A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in NLRP3 on chromosome 1q44."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11687797, url:https\://www.ncbi.nlm.nih.gov/pubmed/11992256]",['DO_rare_slim'],"['GARD:8472', 'ICD10CM:M04.2', 'MEDDRA:10064569', 'MESH:D056587', 'NCI:C119054', 'OMIM:191900', 'ORDO:575', 'SNOMEDCT_US_2022_09_01:15123008', 'UMLS_CUI:C0268390']",['DOID:225']
592,0050857,Perrault syndrome,"""A syndrome that is characterized by sensorineural hearing loss and ovarian failure."" [url:http\://ghr.nlm.nih.gov/gene/LARS2, url:https\://www.ncbi.nlm.nih.gov/pubmed/23541340]",['DO_rare_slim'],"['GARD:2542', 'OMIM:233400', 'OMIM:614129', 'OMIM:614926', 'OMIM:615300', 'OMIM:PS233400', 'ORDO:2855']",['DOID:225']
593,0050858,Marshall-Smith syndrome,"""A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation."" [url:http\://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome, url:http\://rarediseases.info.nih.gov/gard/6985/marshall-smith-syndrome/resources/1]",['DO_rare_slim'],"['GARD:6985', 'MESH:C536026', 'OMIM:602535', 'ORDO:561']",['DOID:225']
596,0050861,colorectal adenocarcinoma,"""A colorectal carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma, url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['DO_cancer_slim'],"['NCI:C5105', 'SNOMEDCT_US_2022_09_01:408645001', 'UMLS_CUI:C1319315']",['DOID:0080199']
600,0050865,tongue squamous cell carcinoma,"""A head and neck squamous cell carcinoma that is located_in the tongue."" [url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma]",['NCIthesaurus'],"['NCI:C4648', 'SNOMEDCT_US_2022_09_01:276952000', 'UMLS_CUI:C0349566']",['DOID:5520']
601,0050866,oral squamous cell carcinoma,"""An oral cavity cancer that has_material_basis_in squamous cells."" [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma]","['DO_cancer_slim', 'DO_rare_slim']",['GARD:7263'],['DOID:8618']
605,0050871,fibroma,"""A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue."" [url:https\://en.wikipedia.org/wiki/Fibroma]",['DO_cancer_slim'],"['ICDO:8810/0', 'MESH:D005350']",['DOID:0060123']
607,0050873,follicular lymphoma,"""A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts)."" [url:http\://en.wikipedia.org/wiki/Follicular_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=428287]","['DO_cancer_slim', 'DO_rare_slim']","['GARD:2356', 'ICDO:9690/3', 'MESH:D008224', 'OMIM:151430']",['DOID:707']
608,0050876,Caroli disease,"""A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts."" [url:http\://en.wikipedia.org/wiki/Caroli_disease, url:http\://www.medindex.am/glossary/mesh/defini.php?action=search&type=cui&word=C0162510, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6002', 'MESH:D016767', 'NCI:C84619', 'SNOMEDCT_US_2022_09_01:717232005', 'UMLS_CUI:C0162510']",['DOID:4138']
609,0050877,pancreatic agenesis,"""A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth."" [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf]",['DO_rare_slim'],"['GARD:4203', 'OMIM:260370', 'ORDO:2805']",['DOID:26']
610,0050879,fragile X-associated tremor/ataxia syndrome,"""A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA."" [url:http\://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome, url:http\://omim.org/entry/300623, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256, url:https\://www.ncbi.nlm.nih.gov/pubmed/18195136]",['DO_FlyBase_slim'],['OMIM:300623'],['DOID:0050953']
611,0050880,Koolen de Vries syndrome,"""A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene."" [url:http\://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome, url:http\://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome, url:http\://omim.org/entry/610443, url:http\://www.17q21.com/en/, url:http\://www.ncbi.nlm.nih.gov/books/NBK24676/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169, url:https\://www.ncbi.nlm.nih.gov/pubmed/19447831, url:https\://www.ncbi.nlm.nih.gov/pubmed/22544363, url:https\://www.ncbi.nlm.nih.gov/pubmed/22544367]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:10727', 'OMIM:610443', 'ORDO:96169']",['DOID:225']
612,0050881,inclusion body myopathy with Paget disease of bone and frontotemporal dementia,"""A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein."" [url:http\://omim.org/entry/167320, url:https\://www.ncbi.nlm.nih.gov/pubmed/19380227, url:https\://www.ncbi.nlm.nih.gov/pubmed/21304887, url:https\://www.ncbi.nlm.nih.gov/pubmed/21892620]","['DO_FlyBase_slim', 'DO_rare_slim']","['MESH:C563476', 'OMIM:PS167320', 'ORDO:52430']",['DOID:225']
613,0050882,spinocerebellar ataxia type 5,"""An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene."" [url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766, url:https\://www.ncbi.nlm.nih.gov/pubmed/20368622]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:4953', 'OMIM:600224']",['DOID:1441']
614,0050883,infantile cerebellar-retinal degeneration,"""A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration."" [url:http\://omim.org/entry/614559, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850, url:http\://www.uniprot.org/diseases/DI-03409, url:https\://www.ncbi.nlm.nih.gov/pubmed/22405087, url:https\://www.ncbi.nlm.nih.gov/pubmed/23438437]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:13264', 'OMIM:614559']",['DOID:1289']
615,0050884,triosephosphate isomerase deficiency,"""A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait."" [url:http\://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency, url:http\://omim.org/entry/615512, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport, url:https\://www.ncbi.nlm.nih.gov/pubmed/16980388, url:https\://www.ncbi.nlm.nih.gov/pubmed/17424909, url:https\://www.ncbi.nlm.nih.gov/pubmed/23318931]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:5287', 'MESH:C566029', 'OMIM:615512']",['DOID:4194']
616,0050885,IMAGe syndrome,"""A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene."" [url:http\://omim.org/entry/614732, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173, url:https\://www.ncbi.nlm.nih.gov/pubmed/14760276, url:https\://www.ncbi.nlm.nih.gov/pubmed/22634751, url:https\://www.ncbi.nlm.nih.gov/pubmed/23719190, url:https\://www.ncbi.nlm.nih.gov/pubmed/24065356]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:12312', 'OMIM:614732']",['DOID:225']
617,0050886,Troyer syndrome,"""A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene."" [url:http\://en.wikipedia.org/wiki/SPG20, url:http\://ghr.nlm.nih.gov/condition/troyer-syndrome, url:http\://ghr.nlm.nih.gov/gene/SPG20, url:http\://omim.org/entry/275900, url:http\://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301556]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:5372', 'ICD10CM:G11.4', 'OMIM:275900', 'ORDO:101000']",['DOID:2476']
618,0050887,Townes-Brocks syndrome,"""A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations."" [url:http\://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome, url:http\://ghr.nlm.nih.gov/condition/townes-brocks-syndrome, url:http\://www.omim.org/entry/107480, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple, url:https\://www.ncbi.nlm.nih.gov/pubmed/12925729]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:7784', 'MESH:C536974', 'OMIM:107480']",['DOID:225']
625,0050894,ameloblastoma,"""A cell type benign neoplasm that has_material_basis_in odontogenic epithelium."" [url:http\://en.wikipedia.org/wiki/Ameloblastoma]","['DO_cancer_slim', 'DO_rare_slim']","['GARD:5747', 'ICDO:9310/0', 'MESH:D000564']",['DOID:0060084']
633,0050902,medulloblastoma,"""An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor."" [url:http\://en.wikipedia.org/wiki/Medulloblastoma, url:http\://www.cancer.gov/dictionary?CdrID=45780, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306779/]","['DO_cancer_slim', 'DO_RAD_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7005', 'ICDO:9470/3', 'MESH:D008527', 'MESH:D018242', 'NCI:C27294', 'NCI:C3222', 'NCI:C3716', 'OMIM:155255', 'ORDO:616', 'SNOMEDCT_US_2022_09_01:189925001', 'SNOMEDCT_US_2022_09_01:443333004', 'UMLS_CUI:C0025149', 'UMLS_CUI:C0206663', 'UMLS_CUI:C1334410']",['DOID:4706']
636,0050905,inflammatory myofibroblastic tumor,"""A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells."" [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23091756]","['DO_cancer_slim', 'DO_rare_slim']",['GARD:7146'],['DOID:3350']
639,0050908,myelodysplastic syndrome,"""A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets."" [url:http\://en.wikipedia.org/wiki/Myelodysplastic_syndrome, url:http\://www.cancer.gov/dictionary?CdrID=45266]","['DO_cancer_slim', 'DO_rare_slim']","['GARD:7132', 'ICDO:9989/3', 'MESH:D009190', 'OMIM:614286', 'UMLS_CUI:C2713368']",['DOID:4960']
640,0050909,extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue,"""A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production."" [url:http\://www.cancer.gov/dictionary?CdrID=45774, url:http\://www.cancerresearchuk.org/about-cancer/non-hodgkin-lymphoma/types/malt]",['DO_cancer_slim'],"['ICDO:9699/3', 'NCI:C3898', 'OMIM:137245']",['DOID:0050748']
656,0050925,small intestine carcinoid neuroendocrine tumor,"""A small intestine cancer that has_material_basis_in cells of the neuroendocrine system."" [url:http\://en.wikipedia.org/wiki/Carcinoid]",['DO_cancer_slim'],['OMIM:114900'],['DOID:10154']
669,0050938,breast lobular carcinoma,"""A breast carcinoma that derives_from breast lobules (milk glands)."" [url:http\://cancergenome.nih.gov/cancersselected/breastlobular, url:http\://www.cancer.gov/dictionary?CdrID=426416]",['DO_cancer_slim'],"['ICDO:8520/3', 'NCI:C3771']",['DOID:3459']
677,0050946,Charlevoix-Saguenay spastic ataxia,"""An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24384335, url:https\://www.ncbi.nlm.nih.gov/pubmed/26344561, url:https\://www.omim.org/entry/270550]",['DO_rare_slim'],"['GARD:4910', 'MESH:C536787', 'OMIM:270550']",['DOID:0050950']
680,0050949,autosomal recessive hypophosphatemic rickets,"""A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth."" [url:http\://www.omim.org/entry/241520?search=241520&highlight=241520, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple]",['DO_rare_slim'],"['OMIM:241520', 'OMIM:613312', 'ORDO:289176']",['DOID:10609']
681,0050950,autosomal recessive cerebellar ataxia,"""A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance."" [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138/]",['DO_rare_slim'],"['OMIM:PS213200', 'ORDO:1172']",['DOID:0050753']
682,0050951,hereditary ataxia,"""A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements."" [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138]",['DO_rare_slim'],['GARD:6614'],['DOID:1289']
685,0050954,spinocerebellar ataxia type 1,"""An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22."" [url:https\://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1]",['DO_rare_slim'],"['GARD:4071', 'OMIM:164400']",['DOID:1441']
687,0050956,spinocerebellar ataxia type 6,"""An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has_material_basis_in mutation in the CACNA1A gene."" [url:https\://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6]",['DO_rare_slim'],"['GARD:10351', 'OMIM:183086']",['DOID:1441']
688,0050957,spinocerebellar ataxia type 4,"""An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, dysarthria and peripheral neuropathy, has_material_basis_in mutation in the SCA4 gene."" [url:https\://rarediseases.info.nih.gov/diseases/9970/spinocerebellar-ataxia-4]",['DO_rare_slim'],"['GARD:9970', 'MESH:D020754', 'OMIM:600223', 'ORDO:98765', 'SNOMEDCT_US_2022_09_01:715755008', 'UMLS_CUI:C0752122']",['DOID:1441']
691,0050960,spinocerebellar ataxia type 10,"""An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK1175/]",['DO_rare_slim'],"['GARD:10474', 'OMIM:603516']",['DOID:1441']
697,0050967,spinocerebellar ataxia type 17,"""An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene."" [url:https\://rarediseases.info.nih.gov/diseases/10469/spinocerebellar-ataxia-17]",['DO_rare_slim'],"['GARD:10469', 'OMIM:607136']",['DOID:1441']
698,0050968,"autosomal dominant cerebellar ataxia, deafness and narcolepsy","""An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene."" [url:https\://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy]",['DO_rare_slim'],"['GARD:12372', 'OMIM:604121']",['DOID:1441']
699,0050969,spinocerebellar ataxia type 18,"""An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23."" [url:https\://rarediseases.info.nih.gov/diseases/9976/spinocerebellar-ataxia-18]",['DO_rare_slim'],"['GARD:9976', 'OMIM:607458']",['DOID:1441']
700,0050970,spinocerebellar ataxia type 19/22,"""An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor."" [url:https\://rarediseases.info.nih.gov/diseases/12365/spinocerebellar-ataxia-19-and-22]",['DO_rare_slim'],"['GARD:12365', 'OMIM:607346']",['DOID:1441']
701,0050971,spinocerebellar ataxia type 20,"""An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria."" [url:https\://rarediseases.info.nih.gov/diseases/9997/spinocerebellar-ataxia-20]",['DO_rare_slim'],"['GARD:9997', 'OMIM:608687']",['DOID:1441']
702,0050972,spinocerebellar ataxia type 21,"""An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity."" [url:https\://rarediseases.info.nih.gov/diseases/9999/spinocerebellar-ataxia-21]",['DO_rare_slim'],"['GARD:9999', 'OMIM:607454']",['DOID:1441']
704,0050974,spinocerebellar ataxia type 25,"""An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21."" [url:https\://rarediseases.info.nih.gov/diseases/9996/spinocerebellar-ataxia-25]",['DO_rare_slim'],"['GARD:9996', 'MESH:C537202', 'OMIM:608703']",['DOID:1441']
705,0050975,spinocerebellar ataxia type 26,"""An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene."" [url:https\://rarediseases.info.nih.gov/diseases/9995/spinocerebellar-ataxia-26]",['DO_rare_slim'],"['GARD:9995', 'MESH:C537203', 'OMIM:609306']",['DOID:1441']
706,0050976,spinocerebellar ataxia type 27,"""An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome."" [url:https\://rarediseases.info.nih.gov/diseases/9963/spinocerebellar-ataxia-27]",['DO_rare_slim'],"['GARD:9603', 'OMIM:193003']",['DOID:1441']
709,0050979,spinocerebellar ataxia type 30,"""An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene."" [url:https\://www.omim.org/entry/613371]",['DO_rare_slim'],"['GARD:4950', 'OMIM:613371']",['DOID:1441']
727,0050997,"cerebellar ataxia, mental retardation and dysequlibrium syndrome","""An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia."" [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138/, url:https\://ghr.nlm.nih.gov/condition/vldlr-associated-cerebellar-hypoplasia, url:https\://pubmed.ncbi.nlm.nih.gov/28013290/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1874/]",['DO_rare_slim'],"['GARD:1998', 'OMIM:224050', 'OMIM:610185', 'OMIM:613227', 'OMIM:615268']",['DOID:225']
730,0060000,infective endocarditis,"""An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents."" [url:http\://en.wikipedia.org/wiki/Endocarditis, url:http\://en.wikipedia.org/wiki/Infective_endocarditis]","['DO_infectious_disease_slim', 'DO_rare_slim']",['GARD:6337'],['DOID:10314']
738,0060010,Omenn syndrome,"""A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly."" [url:https\://en.wikipedia.org/wiki/Omenn_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/11213808, url:https\://www.ncbi.nlm.nih.gov/pubmed/14328107]",['DO_rare_slim'],"['GARD:8198', 'ICD10CM:D81.8', 'OMIM:603554']",['DOID:627']
741,0060013,X-linked severe combined immunodeficiency,"""A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells."" [url:http\://en.wikipedia.org/wiki/Severe_combined_immunodeficiency, url:https\://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency#synonyms]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5618', 'MESH:D053632', 'NCI:C4682', 'OMIM:300400', 'SNOMEDCT_US_2022_09_01:203592006', 'UMLS_CUI:C1279481']",['DOID:627']
748,0060020,reticular dysgenesis,"""A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions."" [url:http\://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum, url:http\://www.ncbi.nlm.nih.gov/gene/204?]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8625', 'MESH:C538361', 'NCI:C27070', 'OMIM:267500', 'SNOMEDCT_US_2022_09_01:111584000', 'UMLS_CUI:C0272167']",['DOID:627']
751,0060023,immunodeficiency with hyper IgM type 3,"""A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11675497]",['DO_rare_slim'],"['NCI:C84783', 'OMIM:606843', 'ORDO:101090']",['DOID:0080544']
753,0060025,immunoglobulin alpha deficiency,"""A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor."" [url:http\://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency, url:http\://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205, url:http\://www.ncbi.nlm.nih.gov/gene/973?]",['DO_rare_slim'],"['GARD:10197', 'MESH:D017098', 'OMIM:137100', 'OMIM:269650', 'OMIM:609529', 'ORDO:69127', 'SNOMEDCT_US_2022_09_01:29260007', 'UMLS_CUI:C0162538']",['DOID:2115']
768,0060041,autism spectrum disorder,"""A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior."" [url:http\://en.wikipedia.org/wiki/Autism_spectrum_disorder, url:http\://www.neurodevnet.ca]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:10248', 'MESH:D000067877']",['DOID:0060040']
780,0060055,popliteal pterygium syndrome,"""A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1."" [url:http\://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome, url:https\://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/2352260, url:https\://www.ncbi.nlm.nih.gov/pubmed/4384166]","['DO_rare_slim', 'NCIthesaurus']","['GARD:3242', 'MESH:C562509', 'NCI:C118786', 'OMIM:119500', 'OMIM:263650', 'ORDO:1300', 'ORDO:294963', 'SNOMEDCT_US_2022_09_01:205820002', 'UMLS_CUI:C0265259']",['DOID:225']
783,0060058,lymphoma,"""A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs."" [url:http\://en.wikipedia.org/wiki/Lymphoma, url:http\://www.lymphoma.org/site/pp.asp?c=bkLTKaOQLmK8E&b=6300161, url:http\://www.nlm.nih.gov/medlineplus/lymphoma.html]","['DO_cancer_slim', 'DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:C85.9', 'ICDO:9590/3', 'MESH:D008223', 'NCI:C3208', 'NCI:C7065', 'SNOMEDCT_US_2022_09_01:118600007', 'SNOMEDCT_US_2022_09_01:414628006', 'UMLS_CUI:C0024299', 'UMLS_CUI:C0598798']",['DOID:2531']
784,0060060,non-Hodgkin lymphoma,"""A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma."" [url:http\://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=45148]","['DO_cancer_slim', 'DO_rare_slim']","['ICDO:9591/3', 'MESH:D008228', 'NCI:C3211', 'OMIM:605027', 'ORDO:547', 'UMLS_CUI:C0024305']",['DOID:0060058']
785,0060061,primary cutaneous T-cell non-Hodgkin lymphoma,"""A non-Hodgkin's lymphoma that has_material_basis_in a mutation of T cells."" [url:http\://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma]",['DO_rare_slim'],"['GARD:6226', 'MESH:D016410', 'NCI:C3467']",['DOID:0050749']
786,0060062,familial juvenile hyperuricemic nephropathy,"""A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21060763]",['DO_rare_slim'],"['OMIM:162000', 'OMIM:613092', 'OMIM:614227', 'ORDO:209886', 'ORDO:217330']",['DOID:557']
787,0060063,sideroblastic anemia 1,"""A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production."" [url:https\://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia]",['DO_rare_slim'],"['GARD:9456', 'OMIM:300751']",['DOID:8955']
790,0060067,Pearson syndrome,"""A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction."" [url:http\://en.wikipedia.org/wiki/Pearson_syndrome]",['DO_rare_slim'],"['GARD:7343', 'OMIM:557000']",['DOID:700']
804,0060083,immune system cancer,"""An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system."" [url:http\://en.wikipedia.org/wiki/Immune_system]",['DO_cancer_slim'],['ICDO:9392/3'],['DOID:0050686']
818,0060098,osteoblastoma,"""A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas."" [url:https\://en.wikipedia.org/wiki/Osteoblastoma]",['DO_cancer_slim'],"['ICDO:9200/0', 'MESH:D018215']",['DOID:0060094']
822,0060103,central nervous system embryonal tumor,"""A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm."" [url:http\://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151465, url:https\://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor]",['DO_cancer_slim'],"['ICDO:9473/3', 'NCI:C5398']",['DOID:3620']
835,0060119,pharynx cancer,"""A gastrointestinal system cancer that is located_in the pharynx."" [url:http\://en.wikipedia.org/wiki/Pharynx]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['MESH:D010610', 'NCI:C3325', 'SNOMEDCT_US_2022_09_01:126685009', 'UMLS_CUI:C0031347']",['DOID:3119']
838,0060123,connective tissue benign neoplasm,"""A musculoskeletal system benign neoplasm that is located_in connective tissue."" [url:http\://en.wikipedia.org/wiki/Connective_tissue_neoplasm]",['NCIthesaurus'],"['MESH:D012983', 'NCI:C3377', 'SNOMEDCT_US_2022_09_01:126600002', 'UMLS_CUI:C0037579']",['DOID:0060099']
839,0060125,heavy chain disease,"""A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains."" [url:http\://en.wikipedia.org/wiki/Heavy_chain_disease]",['NCIthesaurus'],"['ICD10CM:C88.2', 'ICDO:9762/3', 'MESH:D006362', 'NCI:C3082', 'NCI:C3083', 'NCI:C3892', 'SNOMEDCT_US_2022_09_01:61493004', 'SNOMEDCT_US_2022_09_01:6381009', 'SNOMEDCT_US_2022_09_01:68979007', 'UMLS_CUI:C0018852', 'UMLS_CUI:C0018854', 'UMLS_CUI:C0242310']",['DOID:2916']
841,0060127,gamma heavy chain disease,"""A heavy chain disease that results from an overproduction of gamma antibody (IgG)."" [url:http\://rarediseases.info.nih.gov/GARD/Condition/10346/Gamma_heavy_chain_disease.aspx]",['DO_rare_slim'],['GARD:10346'],['DOID:0060125']
849,0060135,apraxia,"""An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities."" [url:http\://en.wikipedia.org/wiki/Agnosia]",['DO_rare_slim'],"['GARD:5838', 'ICD10CM:R48.2', 'MESH:D001072', 'NCI:C180557', 'SNOMEDCT_US_2022_09_01:271724003', 'UMLS_CUI:C0003635']",['DOID:4090']
862,0060148,simultanagnosia,"""An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time."" [url:http\://en.wikipedia.org/wiki/Agnosia]",['DO_rare_slim'],['GARD:11943'],['DOID:4090']
873,0060159,organic acidemia,"""An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids."" [url:http\://en.wikipedia.org/wiki/Aciduria]",['DO_rare_slim'],['GARD:9433'],['DOID:9252']
874,0060160,childhood spinal muscular atrophy,"""A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood."" [url:http\://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7674', 'MESH:D014897', 'NCI:C85076', 'ORDO:70', 'UMLS_CUI:C0700595']",['DOID:12377']
875,0060161,Kennedy's disease,"""A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor."" [url:http\://en.wikipedia.org/wiki/Kennedy_disease]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6818', 'MESH:D055534', 'NCI:C85233', 'OMIM:313200', 'SNOMEDCT_US_2022_09_01:230253001', 'UMLS_CUI:C1839259']",['DOID:12377']
876,0060162,dentatorubral-pallidoluysian atrophy,"""An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of  CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein."" [url:http\://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:5643', 'MESH:D020191', 'NCI:C122653', 'OMIM:125370', 'SNOMEDCT_US_2022_09_01:702422004', 'UMLS_CUI:C0751781']",['DOID:1441']
882,0060168,histidinemia,"""A histidine metabolism disease characterized by a deficiency of the enzyme histidase."" [url:http\://en.wikipedia.org/wiki/Histidinemia, url:https\://ghr.nlm.nih.gov/condition/histidinemia]",['DO_rare_slim'],"['GARD:6661', 'MESH:C538320', 'OMIM:235800']",['DOID:9265']
883,0060169,benign familial infantile epilepsy,"""An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12503648]",['DO_rare_slim'],"['GARD:1518', 'GARD:857', 'OMIM:PS601764', 'ORDO:306']",['DOID:0050703']
884,0060170,generalized epilepsy with febrile seizures plus,"""An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22011963]","['DO_FlyBase_slim', 'DO_rare_slim']","['ICD10CM:G40.3', 'MESH:C565808', 'ORDO:36387']",['DOID:1827']
886,0060173,Timothy syndrome,"""A syndrome that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of CACNA1C on chromosome 12p13.33."" [url:http\://www.ncbi.nlm.nih.gov/books/NBK1403/, url:https\://ghr.nlm.nih.gov/condition/timothy-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15863612]",['DO_rare_slim'],"['ICD10CM:G72.3', 'MESH:C536962', 'OMIM:601005', 'ORDO:65283', 'ORDO:768']",['DOID:225']
890,0060177,homocarnosinosis,"""A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine."" [url:http\://en.wikipedia.org/wiki/Carnosinemia, url:http\://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf]",['DO_rare_slim'],"['GARD:2730', 'MESH:C535328']",['DOID:0060176']
891,0060178,familial hemiplegic migraine,"""A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness."" [url:http\://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:10975', 'ICD10CM:G43.8', 'ICD9CM:346.8', 'ORDO:569', 'SNOMEDCT_US_2022_09_01:193037008', 'UMLS_CUI:C0477373']",['DOID:10024']
892,0060179,Renpenning syndrome,"""An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males."" [url:http\://en.wikipedia.org/wiki/Renpenning%27s_syndrome]","['DO_FlyBase_slim', 'DO_rare_slim']","['ICD10CM:Q87.5', 'OMIM:309500', 'ORDO:3242']",['DOID:0060309']
893,0060180,colitis,"""An inflammatory bowel disease that involves inflammation located_in colon."" [url:http\://en.wikipedia.org/wiki/Colitis]",['NCIthesaurus'],"['EFO:0003872', 'ICD10CM:K52.9', 'MESH:D003092', 'NCI:C26723', 'SNOMEDCT_US_2022_09_01:64226004', 'UMLS_CUI:C0009319']",['DOID:0050589']
895,0060182,microscopic colitis,"""A colitis that can only be diagnosed_by the examination of colon tissue under a microscope."" [url:http\://en.wikipedia.org/wiki/Microscopic_colitis, url:http\://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:K52.83', 'MESH:D046728', 'NCI:C38504', 'ORDO:58220', 'SNOMEDCT_US_2022_09_01:235753003', 'UMLS_CUI:C0400821']",['DOID:0060180']
896,0060183,collagenous colitis,"""A colitis characterized by a distinctive thickening of the subepithelial collagen table."" [url:http\://en.wikipedia.org/wiki/Collagenous_colitis, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6135', 'ICD10CM:K52.831', 'MEDDRA:10048928', 'MESH:D046729', 'NCI:C27021', 'SNOMEDCT_US_2022_09_01:19311003', 'UMLS_CUI:C0238067']",['DOID:0060182']
897,0060184,lymphocytic colitis,"""A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria)."" [url:http\://en.wikipedia.org/wiki/Lymphocytic_colitis, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6939', 'ICD10CM:K52.832', 'MEDDRA:10025268', 'MESH:D046730', 'NCI:C27147', 'ORDO:65279', 'SNOMEDCT_US_2022_09_01:31437008', 'UMLS_CUI:C0400822']",['DOID:0060182']
898,0060185,Clostridium difficile colitis,"""A colitis characterized by an overgrowth of Clostridium difficile bacteria."" [url:http\://en.wikipedia.org/wiki/Clostridium_difficile_colitis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000259.htm]",['NCIthesaurus'],"['ICD10CM:A04.7', 'MEDDRA:10009657', 'MESH:D004761', 'NCI:C128347', 'SNOMEDCT_US_2022_09_01:266525002', 'SNOMEDCT_US_2022_09_01:397683000', 'SNOMEDCT_US_2022_09_01:51180003', 'UMLS_CUI:C0014358', 'UMLS_CUI:C0085819', 'UMLS_CUI:C1257843', 'UMLS_CUI:C1257844', 'UMLS_CUI:C1257845']",['DOID:0060180']
902,0060189,ileitis,"""An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss."" [url:http\://en.wikipedia.org/wiki/Ileitis, url:https\://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview]",['NCIthesaurus'],"['ICD10CM:K52.9', 'MEDDRA:10021312', 'MESH:D007079', 'NCI:C84782', 'SNOMEDCT_US_2022_09_01:52457000', 'UMLS_CUI:C0020877']",['DOID:8778']
905,0060192,Crohn's colitis,"""An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus."" [url:http\://en.wikipedia.org/wiki/Crohn%27s_disease, url:https\://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview]",['NCIthesaurus'],"['ICD10CM:K50.1', 'ICD9CM:555.1', 'MESH:D003424', 'NCI:C37262', 'SNOMEDCT_US_2022_09_01:7620006', 'UMLS_CUI:C0156147']",['DOID:8778']
906,0060193,amyotrophic lateral sclerosis type 1,"""An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS."" [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis]",['DO_rare_slim'],"['ICD10CM:G12.2', 'OMIM:105400']",['DOID:332']
907,0060194,amyotrophic lateral sclerosis type 2,"""An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2."" [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/205100]",['DO_rare_slim'],"['GARD:9470', 'ICD10CM:G12.2', 'OMIM:205100']",['DOID:332']
908,0060195,amyotrophic lateral sclerosis type 3,"""An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18."" [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/606640]",['DO_rare_slim'],"['GARD:10501', 'OMIM:606640']",['DOID:332']
909,0060196,amyotrophic lateral sclerosis type 4,"""An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9."" [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/602433]",['DO_rare_slim'],"['GARD:10502', 'ICD10CM:G12.2', 'OMIM:602433', 'ORDO:357043']",['DOID:332']
910,0060197,amyotrophic lateral sclerosis type 5,"""An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21."" [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/602099]",['DO_rare_slim'],"['GARD:10503', 'OMIM:602099']",['DOID:332']
911,0060198,amyotrophic lateral sclerosis type 6,"""An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16."" [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/608030]",['DO_rare_slim'],"['GARD:9874', 'OMIM:608030']",['DOID:332']
912,0060199,amyotrophic lateral sclerosis type 7,"""An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 20."" [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/608031]",['DO_rare_slim'],"['GARD:10500', 'OMIM:608031']",['DOID:332']
913,0060200,amyotrophic lateral sclerosis type 9,"""An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14."" [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/611895]",['DO_rare_slim'],"['GARD:10498', 'OMIM:611895']",['DOID:332']
914,0060201,amyotrophic lateral sclerosis type 10,"""An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1."" [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/612069]",['DO_rare_slim'],"['GARD:10497', 'OMIM:612069']",['DOID:332']
915,0060202,amyotrophic lateral sclerosis type 11,"""An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6."" [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://omim.org/entry/612577]",['DO_rare_slim'],"['GARD:10496', 'OMIM:612577']",['DOID:332']
927,0060215,Balo concentric sclerosis,"""A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor."" [url:http\://en.wikipedia.org/wiki/Balo_concentric_sclerosis, url:https\://pubmed.ncbi.nlm.nih.gov/32140322/, url:https\://www.cedars-sinai.edu/Patients/Health-Conditions/Tumefactive-Multiple-Sclerosis.aspx, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110404/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5885', 'ICD10CM:G37.0', 'ICD9CM:341.1', 'MESH:D002549', 'NCI:C84670', 'SNOMEDCT_US_2022_09_01:44875002', 'UMLS_CUI:C0007795']",['DOID:2377']
928,0060216,Cogan syndrome,"""An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue."" [url:http\://en.wikipedia.org/wiki/Cogan_syndrome]",['DO_rare_slim'],"['GARD:1421', 'ICD10CM:H16.32', 'MESH:D055952', 'ORDO:1467', 'SNOMEDCT_US_2022_09_01:231906002', 'UMLS_CUI:C0271270']",['DOID:5614']
929,0060217,Cogan-Reese syndrome,"""An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma."" [url:http\://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome, url:http\://rarediseases.info.nih.gov/gard/6125/cogan-reese-syndrome/resources/1]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6125', 'MEDDRA:10059200', 'NCI:C84644', 'ORDO:98980', 'SNOMEDCT_US_2022_09_01:129624009', 'UMLS_CUI:C1168173']",['DOID:5614']
930,0060218,CREST syndrome,"""A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia."" [url:http\://en.wikipedia.org/wiki/CREST_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:12430', 'ICD10CM:M34.1', 'MESH:D017675', 'NCI:C70646', 'SNOMEDCT_US_2022_09_01:31848007', 'SNOMEDCT_US_2022_09_01:62382002', 'UMLS_CUI:C0206138', 'UMLS_CUI:C1527226']",['DOID:225']
933,0060221,Maffucci syndrome,"""A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas."" [url:http\://en.wikipedia.org/wiki/Maffucci_syndrome, url:http\://ghr.nlm.nih.gov/condition/maffucci-syndrome]",['DO_rare_slim'],"['GARD:6958', 'ICD10CM:Q78.4', 'OMIM:614569', 'ORDO:163634']",['DOID:225']
934,0060222,Scheie syndrome,"""A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan."" [url:http\://en.wikipedia.org/wiki/Scheie_syndrome]",['DO_rare_slim'],"['GARD:12561', 'ICD10CM:E76.0', 'OMIM:607016', 'ORDO:93474']",['DOID:12802']
936,0060224,atrial fibrillation,"""A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain."" [url:http\://en.wikipedia.org/wiki/Atrial_fibrillation, url:http\://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/af]",['NCIthesaurus'],"['ICD9CM:427.31', 'MESH:D001281', 'NCI:C50466', 'SNOMEDCT_US_2022_09_01:266306001', 'UMLS_CUI:C0004238']",['DOID:10273']
937,0060225,3MC syndrome,"""A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16096999]",['DO_rare_slim'],"['GARD:1118', 'ICD10CM:Q87.8', 'OMIM:PS257920', 'ORDO:293843']",['DOID:225']
938,0060226,acrofrontofacionasal dysostosis,"""A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure."" [url:http\://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/2986457]",['DO_rare_slim'],"['MESH:C538186', 'OMIM:201180', 'OMIM:239710', 'ORDO:1784', 'SNOMEDCT_US_2022_09_01:720408003', 'UMLS_CUI:C1860118']",['DOID:1934']
939,0060227,Adams-Oliver syndrome,"""A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs."" [url:http\://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome, url:http\://ghr.nlm.nih.gov/condition/adams-oliver-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/18000904, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract]",['DO_rare_slim'],"['GARD:5739', 'OMIM:100300', 'OMIM:614219', 'OMIM:614814', 'OMIM:615297', 'OMIM:616028', 'OMIM:PS100300', 'ORDO:974', 'SNOMEDCT_US_2022_09_01:34748004', 'UMLS_CUI:C0265268']",['DOID:225']
940,0060228,intracranial berry aneurysm,"""An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm."" [url:http\://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms, url:http\://radiopaedia.org/articles/saccular-cerebral-aneurysm]",['DO_rare_slim'],"['OMIM:PS105800', 'ORDO:231160']",['DOID:10941']
941,0060229,Baraitser-Winter syndrome,"""A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present."" [url:http\://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome]",['DO_rare_slim'],"['GARD:5279', 'OMIM:PS243310', 'ORDO:2995']",['DOID:225']
942,0060230,basal ganglia calcification,"""A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills."" [url:http\://en.wikipedia.org/wiki/Fahr%27s_syndrome, url:http\://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/597/viewAbstract]",['NCIthesaurus'],"['MESH:C536275', 'OMIM:114100', 'OMIM:213600', 'OMIM:615007', 'OMIM:615483', 'SNOMEDCT_US_2022_09_01:110997000', 'UMLS_CUI:C0393590']",['DOID:679']
943,0060231,Bruck syndrome,"""A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta."" [url:http\://en.wikipedia.org/wiki/Bruck_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/9129737]",['DO_rare_slim'],"['ICD10CM:M21.8', 'OMIM:259450', 'OMIM:609220', 'ORDO:2771']",['DOID:225']
944,0060232,branchiootic syndrome,"""A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22901925, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract]",['DO_rare_slim'],"['GARD:10148', 'ICD10CM:Q87.0', 'MESH:C537104', 'OMIM:120502', 'OMIM:602588', 'OMIM:608389', 'ORDO:52429']",['DOID:225']
945,0060233,cardiofaciocutaneous syndrome,"""A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes."" [url:http\://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome, url:http\://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract]",['DO_rare_slim'],"['GARD:9146', 'ICD10CM:Q87.8', 'MESH:C535579', 'OMIM:PS115150', 'ORDO:1340']",['DOID:0080690']
946,0060234,Carpenter syndrome,"""An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly."" [url:http\://en.wikipedia.org/wiki/Carpenter_syndrome, url:http\://ghr.nlm.nih.gov/condition/carpenter-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6003', 'MESH:C563187', 'NCI:C98873', 'OMIM:201000', 'OMIM:614976', 'ORDO:65759', 'SNOMEDCT_US_2022_09_01:403767009', 'UMLS_CUI:C1275078']",['DOID:12960']
947,0060235,carnitine palmitoyltransferase II deficiency,"""A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria."" [url:http\://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency, url:http\://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency]","['DO_rare_slim', 'NCIthesaurus']","['MESH:C535589', 'NCI:C114766', 'OMIM:255110', 'OMIM:600649', 'OMIM:608836', 'ORDO:157', 'SNOMEDCT_US_2022_09_01:238002005', 'UMLS_CUI:C0342790']",['DOID:3146']
948,0060236,xanthinuria,"""A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones."" [url:http\://en.wikipedia.org/wiki/Xanthinuria, url:https\://www.ncbi.nlm.nih.gov/pubmed/4369449]","['DO_FlyBase_slim', 'DO_rare_slim']","['MESH:C562584', 'MESH:C566358', 'OMIM:278300', 'OMIM:603592', 'ORDO:3467', 'SNOMEDCT_US_2022_09_01:836343001', 'UMLS_CUI:C0268118', 'UMLS_CUI:C1863688']",['DOID:653']
949,0060237,Warburg micro syndrome,"""A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism."" [url:http\://en.wikipedia.org/wiki/Micro_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/22768674]",['DO_rare_slim'],"['MESH:C536681', 'OMIM:PS600118', 'ORDO:2510', 'UMLS_CUI:C1838625']",['DOID:225']
950,0060238,Van Maldergem syndrome,"""A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1633641]",['DO_rare_slim'],"['GARD:5456', 'MESH:C536530', 'OMIM:PS601390', 'ORDO:314679', 'SNOMEDCT_US_2022_09_01:763353000', 'UMLS_CUI:C1832390']",['DOID:225']
951,0060239,Van der Woude syndrome,"""A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone."" [url:http\://en.wikipedia.org/wiki/Van_der_Woude_syndrome, url:http\://ghr.nlm.nih.gov/condition/van-der-woude-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8414', 'ICD10CM:Q38.0', 'MESH:C536528', 'MESH:C563529', 'NCI:C74986', 'OMIM:119300', 'OMIM:606713', 'ORDO:888', 'SNOMEDCT_US_2022_09_01:79261008', 'UMLS_CUI:C0175697', 'UMLS_CUI:C1834339']",['DOID:225']
952,0060240,UV-sensitive syndrome,"""A skin disease characterized by photosensitivity and liver spots (solar lentigines)."" [url:http\://en.wikipedia.org/wiki/UV-sensitive_syndrome, url:http\://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome]",['DO_rare_slim'],"['MESH:C563466', 'OMIM:600630', 'OMIM:614621', 'OMIM:614640', 'OMIM:PS600630', 'ORDO:178338']",['DOID:37']
953,0060241,3-M syndrome,"""A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities."" [url:http\://en.wikipedia.org/wiki/3-M_syndrome, url:http\://ghr.nlm.nih.gov/condition/3-m-syndrome]",['DO_rare_slim'],"['GARD:5667', 'MESH:C535314', 'OMIM:273750', 'OMIM:612921', 'OMIM:614205', 'ORDO:2616', 'SNOMEDCT_US_2022_09_01:702342007', 'UMLS_CUI:C1848862', 'UMLS_CUI:C3280146']",['DOID:225']
954,0060242,synpolydactyly,"""A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene."" [url:http\://en.wikipedia.org/wiki/Synpolydactyly, url:https\://www.ncbi.nlm.nih.gov/pubmed/18177473, url:https\://www.ncbi.nlm.nih.gov/pubmed/8817328]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5087', 'MESH:C538153', 'NCI:C75003', 'OMIM:186000', 'OMIM:608180', 'OMIM:610234', 'ORDO:295195', 'SNOMEDCT_US_2022_09_01:715724002', 'UMLS_CUI:C2699746']",['DOID:11193']
955,0060243,stuttering,"""An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech."" [url:http\://en.wikipedia.org/wiki/Stuttering, url:http\://www.asha.org/public/speech/disorders/stuttering.htm, url:http\://www.merriam-webster.com/dictionary/stutter]",['NCIthesaurus'],"['ICD10CM:F80.81', 'MESH:D013342', 'NCI:C35043', 'OMIM:184450', 'OMIM:609261', 'OMIM:614655', 'OMIM:614668', 'SNOMEDCT_US_2022_09_01:191987007', 'SNOMEDCT_US_2022_09_01:229631007', 'SNOMEDCT_US_2022_09_01:29916003', 'UMLS_CUI:C0038131', 'UMLS_CUI:C0038506', 'UMLS_CUI:C0454542', 'UMLS_CUI:C0751527', 'UMLS_CUI:C0751528', 'UMLS_CUI:C0751529', 'UMLS_CUI:C3489627']",['DOID:4186']
957,0060245,Mast syndrome,"""A hereditary spastic paraplegia associated with dementia."" [url:http\://ghr.nlm.nih.gov/gene/SPG21, url:https\://www.ncbi.nlm.nih.gov/pubmed/6024251]",['DO_rare_slim'],"['ICD10CM:G11.4', 'MESH:C565409', 'OMIM:248900', 'ORDO:101001']",['DOID:2476']
958,0060246,MASA syndrome,"""A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range."" [url:http\://en.wikipedia.org/wiki/MASA_syndrome, url:http\://ghr.nlm.nih.gov/condition/l1-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6986', 'MESH:C536029', 'NCI:C129930', 'OMIM:303350', 'ORDO:2466', 'SNOMEDCT_US_2022_09_01:716996008', 'UMLS_CUI:C0795953']",['DOID:2476']
959,0060247,Smith-McCort dysplasia,"""A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest."" [url:https\://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/1216821]",['DO_rare_slim'],"['GARD:10620', 'MESH:C564589', 'OMIM:PS607326', 'ORDO:178355', 'SNOMEDCT_US_2022_09_01:715862006', 'UMLS_CUI:C1846431']",['DOID:0111167']
960,0060248,Simpson-Golabi-Behmel syndrome type 1,"""A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26."" [url:http\://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome, url:http\://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/36720533/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7649', 'MESH:C537340', 'NCI:C118787', 'OMIM:312870', 'ORDO:373', 'UMLS_CUI:C0796154']",['DOID:225']
961,0060249,scoliosis,"""A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine."" [url:http\://en.wikipedia.org/wiki/Scoliosis, url:http\://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140]",['NCIthesaurus'],"['ICD10CM:M41.9', 'MESH:D012600', 'NCI:C78603', 'SNOMEDCT_US_2022_09_01:36773001', 'UMLS_CUI:C0036439']",['DOID:0080010']
962,0060250,idiopathic scoliosis,"""A scoliosis with no known cause."" [url:http\://en.wikipedia.org/wiki/Scoliosis]",['DO_rare_slim'],['GARD:552'],['DOID:0060249']
963,0060251,sclerosteosis,"""A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life."" [url:http\://en.wikipedia.org/wiki/Sclerostin#Clinical_significance, url:https\://www.ncbi.nlm.nih.gov/pubmed/11836356]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4771', 'MESH:C537525', 'NCI:C131133', 'OMIM:PS269500', 'ORDO:3152', 'SNOMEDCT_US_2022_09_01:17568006', 'UMLS_CUI:C0265301']",['DOID:205']
964,0060252,sclerocornea,"""A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea."" [url:http\://en.wikipedia.org/wiki/Sclerocornea, url:https\://www.ncbi.nlm.nih.gov/pubmed/3994576]",['DO_rare_slim'],"['MESH:C565209', 'OMIM:181700', 'ORDO:91490', 'UMLS_CUI:C1853235']",['DOID:10124']
966,0060254,Robinow syndrome,"""A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities."" [url:http\://en.wikipedia.org/wiki/Robinow_syndrome, url:http\://ghr.nlm.nih.gov/condition/robinow-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['GARD:312', 'ICD10CM:Q87.19', 'MESH:C562492', 'NCI:C85048', 'OMIM:PS268310', 'ORDO:97360', 'SNOMEDCT_US_2022_09_01:76520005', 'UMLS_CUI:C0265205']",['DOID:225']
967,0060255,rippling muscle disease 2,"""A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25."" [url:http\://ghr.nlm.nih.gov/condition/rippling-muscle-disease, url:https\://www.ncbi.nlm.nih.gov/pubmed/9537420]",['DO_rare_slim'],"['GARD:9164', 'OMIM:606072', 'ORDO:265', 'ORDO:97238', 'SNOMEDCT_US_2022_09_01:709281006', 'UMLS_CUI:C1853698']",['DOID:66']
968,0060256,Dowling-Degos disease,"""A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases."" [url:http\://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures, url:http\://ghr.nlm.nih.gov/condition/dowling-degos-disease]",['DO_rare_slim'],"['GARD:9775', 'MESH:C562924', 'OMIM:179850', 'OMIM:615327', 'OMIM:615674', 'OMIM:615696', 'ORDO:79145', 'SNOMEDCT_US_2022_09_01:239133004', 'UMLS_CUI:C0406811', 'UMLS_CUI:C3714534']",['DOID:10123']
969,0060257,dyschromatosis symmetrica hereditaria,"""A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities."" [url:http\://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria, url:https\://www.ncbi.nlm.nih.gov/pubmed/22974014]","['DO_rare_slim', 'NCIthesaurus']","['MESH:C535729', 'NCI:C118435', 'OMIM:127400', 'ORDO:41', 'SNOMEDCT_US_2022_09_01:239085000', 'UMLS_CUI:C0406775']",['DOID:10123']
970,0060258,reticulate acropigmentation of Kitamura,"""A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22808308]",['DO_rare_slim'],"['OMIM:615537', 'ORDO:178307', 'SNOMEDCT_US_2022_09_01:239133004', 'UMLS_CUI:C0406811']",['DOID:10123']
971,0060259,renal-hepatic-pancreatic dysplasia,"""A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth."" [url:http\://en.wikipedia.org/wiki/Renal-hepatic-pancreatic_dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/17605805]",['DO_rare_slim'],"['MESH:C567142', 'OMIM:208540', 'OMIM:615415', 'ORDO:294415']",['DOID:0080015']
972,0060260,ptosis,"""An eye disease characterized by the drooping or falling of the upper or lower eyelid."" [url:http\://en.wikipedia.org/wiki/Ptosis_%28eyelid%29]",['NCIthesaurus'],"['ICD10CM:H02.4', 'ICD9CM:374.3', 'MESH:D001763', 'NCI:C27298', 'SNOMEDCT_US_2022_09_01:204197004', 'UMLS_CUI:C0005745']",['DOID:5614']
973,0060261,congenital ptosis,"""A ptosis characterized by eyelid drop present at birth."" [url:http\://en.wikipedia.org/wiki/Ptosis_%28eyelid%29, url:https\://eyewiki.aao.org/Ptosis\,_Congenital]",['NCIthesaurus'],"['ICD10CM:Q10.0', 'ICD9CM:743.61', 'NCI:C27049', 'OMIM:178300', 'OMIM:300245', 'SNOMEDCT_US_2022_09_01:204197004', 'UMLS_CUI:C0266573']",['DOID:0060260']
974,0060262,gallbladder disease,"""A gastrointestinal system disease that is located_in the gallbladder."" [url:http\://en.wikipedia.org/wiki/Gallbladder_disease, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C34631&ns=NCI_Thesaurus&key=n1027527578&b=1&n=null]",['NCIthesaurus'],"['ICD10CM:K82.9', 'ICD9CM:575.9', 'MESH:D005705', 'NCI:C34631', 'OMIM:609918', 'OMIM:609919', 'OMIM:611465', 'SNOMEDCT_US_2022_09_01:155807008', 'UMLS_CUI:C0016977']",['DOID:77']
975,0060263,porencephaly,"""A brain disease that is characterized by encephalomalacia and cystic brain lesions."" [url:https\://en.wikipedia.org/wiki/Cerebral_softening, url:https\://en.wikipedia.org/wiki/Porencephaly]",['DO_rare_slim'],"['GARD:7430', 'ICD10CM:Q04.6', 'MESH:D065708', 'ORDO:2940', 'SNOMEDCT_US_2022_09_01:1162864000', 'SNOMEDCT_US_2022_09_01:38353004', 'SNOMEDCT_US_2022_09_01:698837003', 'UMLS_CUI:C0302892', 'UMLS_CUI:C1867983', 'UMLS_CUI:C3698507']",['DOID:936']
976,0060264,pontocerebellar hypoplasia,"""A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum."" [url:https\://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia#definition]",['DO_rare_slim'],"['GARD:10977', 'MESH:C580383', 'OMIM:PS607596', 'SNOMEDCT_US_2022_09_01:45163000', 'UMLS_CUI:C0266468']",['DOID:1289']
977,0060265,pontocerebellar hypoplasia type 1A,"""A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene."" [url:https\://www.omim.org/entry/607596]",['DO_rare_slim'],"['OMIM:607596', 'ORDO:2254']",['DOID:0112322']
978,0060266,pontocerebellar hypoplasia type 1B,"""A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene."" [url:https\://www.omim.org/entry/614678]",['DO_rare_slim'],"['OMIM:614678', 'ORDO:2254']",['DOID:0112322']
979,0060267,pontocerebellar hypoplasia type 2A,"""A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene."" [url:https\://www.omim.org/entry/277470]",['DO_rare_slim'],"['GARD:10705', 'GARD:3631', 'MESH:C564738', 'OMIM:277470', 'ORDO:2524', 'UMLS_CUI:C1848526']",['DOID:0112328']
980,0060268,pontocerebellar hypoplasia type 2B,"""A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene."" [url:https\://www.omim.org/entry/612389]",['DO_rare_slim'],"['MESH:C567325', 'OMIM:612389', 'ORDO:2524', 'UMLS_CUI:C2676466']",['DOID:0112328']
981,0060269,pontocerebellar hypoplasia type 2C,"""A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene."" [url:https\://www.omim.org/entry/612390]",['DO_rare_slim'],"['MESH:C567324', 'OMIM:612390', 'ORDO:2524', 'UMLS_CUI:C2676465']",['DOID:0112328']
982,0060270,pontocerebellar hypoplasia type 2D,"""A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene."" [url:https\://www.omim.org/entry/613811]",['DO_rare_slim'],"['ICD10CM:Q04.3', 'OMIM:613811', 'ORDO:2524']",['DOID:0112328']
984,0060272,pontocerebellar hypoplasia type 3,"""A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene."" [url:https\://www.omim.org/entry/608027]",['DO_rare_slim'],"['GARD:10708', 'MESH:C548072', 'OMIM:608027', 'ORDO:97249', 'SNOMEDCT_US_2022_09_01:718609003', 'UMLS_CUI:C1842687']",['DOID:0060264']
985,0060273,pontocerebellar hypoplasia type 4,"""A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene."" [url:https\://www.omim.org/entry/225753]",['DO_rare_slim'],"['GARD:343', 'MESH:C536716', 'OMIM:225753', 'ORDO:166063', 'SNOMEDCT_US_2022_09_01:718608006', 'UMLS_CUI:C1856974']",['DOID:0060264']
986,0060274,pontocerebellar hypoplasia type 5,"""A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene."" [url:https\://www.omim.org/entry/610204]",['DO_rare_slim'],"['GARD:10709', 'MESH:C537745', 'OMIM:610204', 'ORDO:166068', 'SNOMEDCT_US_2022_09_01:718607001', 'UMLS_CUI:C1857762']",['DOID:0060264']
987,0060275,pontocerebellar hypoplasia type 6,"""A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene."" [url:https\://www.omim.org/entry/611523]",['DO_rare_slim'],"['GARD:10710', 'MESH:C548074', 'OMIM:611523', 'ORDO:166073', 'SNOMEDCT_US_2022_09_01:718606005', 'UMLS_CUI:C1969084']",['DOID:0060264']
988,0060276,pontocerebellar hypoplasia type 7,"""A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene."" [url:https\://www.omim.org/entry/614969]",['DO_rare_slim'],"['ICD10CM:Q04.3', 'OMIM:614969', 'ORDO:284339']",['DOID:0060264']
989,0060277,pontocerebellar hypoplasia type 8,"""A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene."" [url:https\://www.omim.org/entry/614961]",['DO_rare_slim'],"['ICD10CM:Q04.3', 'OMIM:614961', 'ORDO:324569']",['DOID:0060264']
990,0060278,pontocerebellar hypoplasia type 9,"""A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene."" [url:https\://www.omim.org/entry/615809]",['DO_rare_slim'],"['ICD10CM:Q04.3', 'OMIM:615809', 'ORDO:369920']",['DOID:0060264']
991,0060279,pontocerebellar hypoplasia type 10,"""A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene."" [url:https\://www.omim.org/entry/615803]",['DO_rare_slim'],"['OMIM:615803', 'ORDO:411493']",['DOID:0060264']
992,0060280,primary pigmented nodular adrenocortical disease,"""An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2212318]",['DO_rare_slim'],"['GARD:10906', 'MESH:C566469', 'MESH:C566472', 'OMIM:610475', 'OMIM:610489', 'OMIM:614190', 'OMIM:615830', 'ORDO:189439', 'UMLS_CUI:C1864846', 'UMLS_CUI:C1864851']",['DOID:3952']
993,0060281,photosensitive epilepsy,"""An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights."" [url:http\://en.wikipedia.org/wiki/Photosensitive_epilepsy]",['DO_rare_slim'],"['GARD:5648', 'ICD10CM:G40.8', 'OMIM:132100', 'OMIM:609572', 'OMIM:609573', 'ORDO:166409']",['DOID:1826']
994,0060282,persistent hyperplastic primary vitreous,"""A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development."" [url:https\://en.wikipedia.org/wiki/Persistent_hyperplastic_primary_vitreous]",['DO_rare_slim'],"['MESH:D054514', 'NCI:C161554', 'OMIM:221900', 'OMIM:611308', 'ORDO:91495', 'SNOMEDCT_US_2022_09_01:69927002', 'UMLS_CUI:C0266568']",['DOID:9720']
995,0060283,peeling skin syndrome,"""A skin disease that is characterized by the painless peeling of the top layer of skin predominately on the hands and feet, has_material_basis_in autosomal recessive inheritance of mutation in the TGM5 gene and/pr CSTA gene."" [url:https\://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome]",['DO_rare_slim'],"['ICD10CM:Q80.8', 'MESH:C564818', 'OMIM:270300', 'OMIM:613088', 'ORDO:263543']",['DOID:37']
996,0060284,paroxysmal nocturnal hemoglobinuria,"""An aquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system."" [url:https\://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7337', 'ICD10CM:D59.5', 'ICD10CM:D59.6', 'MESH:D006457', 'NCI:C61233', 'OMIM:300818', 'OMIM:615399', 'ORDO:447', 'SNOMEDCT_US_2022_09_01:1468004', 'SNOMEDCT_US_2022_09_01:154805009', 'SNOMEDCT_US_2022_09_01:191226006', 'UMLS_CUI:C0019050', 'UMLS_CUI:C0024790', 'UMLS_CUI:C0086774']",['DOID:582']
997,0060285,parietal foramina,"""An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene."" [url:https\://ghr.nlm.nih.gov/condition/enlarged-parietal-foramina]",['DO_rare_slim'],"['MESH:C566826', 'OMIM:168500', 'OMIM:609566', 'OMIM:609597', 'ORDO:60015', 'SNOMEDCT_US_2022_09_01:718099006', 'UMLS_CUI:C1868598']",['DOID:0080074']
998,0060286,combined oxidative phosphorylation deficiency,"""A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction."" [url:https\://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency]",['DO_rare_slim'],"['GARD:12893', 'OMIM:PS609060']",['DOID:700']
999,0060287,cornea plana,"""A corneal disease that is characterized by a flat cornea where the radus of curvature is less than 43 D."" [url:https\://disorders.eyes.arizona.edu/handouts/cornea-plana]",['DO_rare_slim'],"['ICD10CM:Q13.4', 'OMIM:121400', 'OMIM:217300', 'ORDO:53691']",['DOID:10124']
1000,0060288,omodysplasia,"""An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism."" [url:https\://pubmed.ncbi.nlm.nih.gov/12210345/]",['DO_rare_slim'],"['OMIM:PS258315', 'ORDO:2733', 'SNOMEDCT_US_2022_09_01:725164008', 'UMLS_CUI:C4510897']",['DOID:2256']
1001,0060289,Ohdo syndrome,"""A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability."" [url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2489&Disease_Disease_Search_diseaseGroup=Ohdo-syndrome&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&title=Blepharophimosis-intellectual-disability-syndrome--Ohdo-type--Ohdo-syndrome-&search=Disease_Search_Simple]",['DO_rare_slim'],"['MESH:C536232', 'OMIM:249620', 'OMIM:300895', 'ORDO:2728', 'SNOMEDCT_US_2022_09_01:412787009', 'UMLS_CUI:C0796094']",['DOID:225']
1002,0060290,"blepharophimosis-intellectual disability syndrome, SBBYS type","""A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability."" [url:https\://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndromes]",['DO_rare_slim'],"['MESH:C536717', 'OMIM:603736', 'ORDO:3047', 'SNOMEDCT_US_2022_09_01:699298009', 'UMLS_CUI:C1863557']",['DOID:0060289']
1003,0060291,oculodentodigital dysplasia,"""A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities."" [url:http\://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia, url:https\://en.wikipedia.org/wiki/Oculodentodigital_dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/12021949]",['DO_rare_slim'],"['GARD:7239', 'MESH:C563160', 'OMIM:164200', 'OMIM:257850', 'ORDO:2710', 'SNOMEDCT_US_2022_09_01:31291009', 'UMLS_CUI:C0812437']",['DOID:225']
1004,0060292,X-linked chondrodysplasia punctata 1,"""A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity."" [url:https\://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata]",['DO_rare_slim'],"['ICD10CM:Q77.3', 'MESH:C580533', 'OMIM:302950', 'ORDO:35173']",['DOID:2581']
1005,0060293,autosomal dominant chondrodysplasia punctata,"""A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance."" [url:https\://www.omim.org/entry/118650]",['DO_rare_slim'],"['ICD10CM:Q77.3', 'OMIM:118650', 'OMIM:118651', 'OMIM:602497', 'ORDO:79344']",['DOID:2581']
1006,0060294,cold-induced sweating syndrome,"""A syndrome that is characterized by profuse sweating induced by cold ambient temperature."" [url:http\://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome]",['DO_rare_slim'],"['MESH:C536214', 'OMIM:PS272430', 'ORDO:157820', 'SNOMEDCT_US_2022_09_01:725097006', 'UMLS_CUI:C1832409']",['DOID:225']
1007,0060295,complement component 2 deficiency,"""A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene."" [url:https\://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency]",['DO_rare_slim'],"['GARD:1452', 'ICD10CM:D84.1', 'OMIM:217000', 'ORDO:169147']",['DOID:626']
1008,0060296,congenital secretory chloride diarrhea 1,"""A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene."" [url:https\://omim.org/entry/214700]",['DO_rare_slim'],"['MESH:C536210', 'OMIM:214700', 'ORDO:53689', 'SNOMEDCT_US_2022_09_01:24412005', 'UMLS_CUI:C0267662']",['DOID:0050129']
1009,0060297,complement component 4a deficiency,"""A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4A deficiency."" [url:https\://www.omim.org/entry/614380]",['DO_rare_slim'],"['ICD10CM:D84.1', 'MESH:C565167', 'OMIM:614380', 'ORDO:169147']",['DOID:626']
1010,0060298,complement component 4b deficiency,"""A complement deficiency that is characterized by recurrnet bascterial infections, caused by C4B deficiency."" [url:https\://www.omim.org/entry/614379]",['DO_rare_slim'],"['ICD10CM:D84.1', 'OMIM:614379', 'ORDO:169147']",['DOID:626']
1011,0060299,complement component 6 deficiency,"""A complement deficiency that is characterized by recurrnet bascterial infections, has_material_basis_in mutation in the C6 gene."" [url:https\://www.omim.org/entry/612446]",['DO_rare_slim'],"['ICD10CM:D84.1', 'MESH:C567307', 'OMIM:612446', 'ORDO:169150']",['DOID:626']
1012,0060300,complement component 7 deficiency,"""A complement deficiency that is characterized byrecurrnet bascterial infections, has_material_basis_in mutation in the C7 gene."" [url:https\://www.omim.org/entry/610102]",['DO_rare_slim'],"['ICD10CM:D84.1', 'MESH:C566443', 'OMIM:610102', 'ORDO:1695150']",['DOID:626']
1013,0060301,type I complement component 8 deficiency,"""A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes."" [url:https\://ghr.nlm.nih.gov/condition/complement-component-8-deficiency]",['DO_rare_slim'],"['ICD10CM:D84.1', 'OMIM:613790', 'ORDO:169150']",['DOID:626']
1014,0060302,type II complement component 8 deficiency,"""A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes."" [url:https\://ghr.nlm.nih.gov/condition/complement-component-8-deficiency]",['DO_rare_slim'],"['ICD10CM:D84.1', 'OMIM:613789', 'ORDO:169150']",['DOID:626']
1015,0060303,complement component 9 deficiency,"""A complement deficiency that is characterized by recurrnet bascterial infections, has_material_basis_in mutation in the C9 gene."" [url:https\://www.omim.org/entry/613825]",['DO_rare_slim'],"['ICD10CM:D84.1', 'OMIM:613825', 'ORDO:169150']",['DOID:626']
1016,0060304,dyschromatosis universalis hereditaria,"""A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution."" [url:http\://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria, url:https\://www.ncbi.nlm.nih.gov/pubmed/12372090]",['DO_rare_slim'],"['GARD:1996', 'MESH:C535730', 'NCI:C173131', 'OMIM:127500', 'OMIM:612715', 'OMIM:615402', 'ORDO:241', 'UMLS_CUI:C2930995']",['DOID:10123']
1017,0060305,megalocornea,"""A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene."" [url:http\://en.wikipedia.org/wiki/Megalocornea, url:http\://ghr.nlm.nih.gov/gene/CHRDL1, url:https\://www.ncbi.nlm.nih.gov/pubmed/6849653]",['DO_rare_slim'],"['OMIM:249300', 'OMIM:309300', 'ORDO:91489', 'SNOMEDCT_US_2022_09_01:204118005', 'UMLS_CUI:C0344530']",['DOID:10124']
1018,0060306,Meier-Gorlin syndrome,"""A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation."" [url:http\://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome, url:http\://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/14564153]",['DO_rare_slim'],"['GARD:2033', 'MESH:C538012', 'OMIM:PS224690', 'ORDO:2554', 'SNOMEDCT_US_2022_09_01:703508009', 'UMLS_CUI:C1868684']",['DOID:225']
1019,0060307,autosomal dominant intellectual developmental disorder,"""A intellectual disability characterized by an autosomal dominant inheritance pattern."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21124998]",['DO_rare_slim'],"['GARD:12107', 'OMIM:PS156200', 'ORDO:178469']",['DOID:1059']
1020,0060308,autosomal recessive intellectual developmental disorder,"""A intellectual disability characterized by an autosomal recessive inheritance pattern."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21124998]",['DO_rare_slim'],"['OMIM:PS249500', 'ORDO:88616']",['DOID:1059']
1024,0060312,angular cheilitis,"""A cheilitis characterized by inflammation of one or both of the corners of the mouth."" [url:http\://en.wikipedia.org/wiki/Angular_cheilitis]",['NCIthesaurus'],"['ICD10CM:K13.0', 'NCI:C112198', 'SNOMEDCT_US_2022_09_01:200729007', 'UMLS_CUI:C0221237']",['DOID:1762']
1025,0060313,tracheomalacia,"""A tracheal disease characterized by flaccidity of the tracheal support cartilage."" [url:http\://en.wikipedia.org/wiki/Tracheomalacia]",['DO_rare_slim'],"['ICD10CM:Q32.0', 'MESH:C557675', 'ORDO:95430', 'SNOMEDCT_US_2022_09_01:95467005', 'UMLS_CUI:C0392109']",['DOID:3225']
1027,0060315,oral hairy leukoplakia,"""A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus."" [url:http\://en.wikipedia.org/wiki/Hairy_leukoplakia]",['NCIthesaurus'],"['ICD10CM:K13.3', 'MESH:D017733', 'NCI:C3722', 'SNOMEDCT_US_2022_09_01:58918007', 'UMLS_CUI:C0206186']",['DOID:403']
1028,0060316,orofaciodigital syndrome I,"""An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease."" [url:http\://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1, url:https\://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance]",['DO_rare_slim'],"['ICD10CM:Q87.0', 'MESH:D009958', 'NCI:C75481', 'OMIM:311200', 'ORDO:2750', 'SNOMEDCT_US_2022_09_01:1779005', 'SNOMEDCT_US_2022_09_01:403773005', 'SNOMEDCT_US_2022_09_01:52868006', 'UMLS_CUI:C0026363', 'UMLS_CUI:C0029294', 'UMLS_CUI:C1510460']",['DOID:4501']
1029,0060317,lung abscess,"""A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid."" [url:http\://en.wikipedia.org/wiki/Lung_abscess]",['NCIthesaurus'],"['ICD10CM:J85.2', 'ICD9CM:513.0', 'MESH:D008169', 'NCI:C99090', 'SNOMEDCT_US_2022_09_01:155618005', 'UMLS_CUI:C0024110']",['DOID:850']
1030,0060318,acute promyelocytic leukemia,"""An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17."" [url:http\://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia, url:http\://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:538', 'ICD10CM:C92.4', 'MESH:D015473', 'NCI:C3182', 'OMIM:612376', 'ORDO:520', 'SNOMEDCT_US_2022_09_01:28950004', 'UMLS_CUI:C0023487']",['DOID:9119']
1031,0060319,cardiac arrest,"""A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all."" [url:http\://en.wikipedia.org/wiki/Cardiac_arrest, url:http\://www.nlm.nih.gov/medlineplus/cardiacarrest.html]",['NCIthesaurus'],"['ICD10CM:I46', 'ICD9CM:427.5', 'MESH:D006323', 'NCI:C50479', 'NCI:C50483', 'SNOMEDCT_US_2022_09_01:30298009', 'UMLS_CUI:C0018790', 'UMLS_CUI:C0600228']",['DOID:6000']
1032,0060320,inguinal hernia,"""An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal."" [url:http\://en.wikipedia.org/wiki/Inguinal_hernia]",['NCIthesaurus'],"['ICD10CM:K40', 'ICD9CM:550', 'MESH:D006552', 'NCI:C34690', 'NCI:C34691', 'NCI:C34692', 'SNOMEDCT_US_2022_09_01:155738001', 'SNOMEDCT_US_2022_09_01:196800008', 'UMLS_CUI:C0019294', 'UMLS_CUI:C0019295', 'UMLS_CUI:C0019296']",['DOID:5295']
1033,0060321,umbilical hernia,"""A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles."" [url:http\://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630, url:https\://en.wikipedia.org/wiki/Umbilical_hernia]",['NCIthesaurus'],"['ICD10CM:Q79.2', 'ICD9CM:756.72', 'MESH:D006554', 'NCI:C98997', 'SNOMEDCT_US_2022_09_01:49324006', 'SNOMEDCT_US_2022_09_01:5867007', 'UMLS_CUI:C0795690', 'UMLS_CUI:C1306503']",['DOID:5295']
1034,0060322,mastoiditis,"""A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process."" [url:http\://en.wikipedia.org/wiki/Mastoiditis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001034.htm]",['NCIthesaurus'],"['ICD10CM:H70.9', 'ICD9CM:383.9', 'MESH:D008417', 'NCI:C128368', 'SNOMEDCT_US_2022_09_01:155230007', 'UMLS_CUI:C0024904']",['DOID:3342']
1038,0060326,myelomeningocele,"""A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes."" [url:http\://en.wikipedia.org/wiki/Spina_bifida#Myelomeningocele, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001558.htm]",['NCIthesaurus'],"['ICD10CM:Q05', 'MESH:D008591', 'NCI:C101201', 'NCI:C98874', 'SNOMEDCT_US_2022_09_01:268308005', 'SNOMEDCT_US_2022_09_01:7096005', 'UMLS_CUI:C0025312', 'UMLS_CUI:C0086664', 'UMLS_CUI:C0751316']",['DOID:0080016']
1039,0060327,omphalocele,"""A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac."" [url:http\://en.wikipedia.org/wiki/Omphalocele, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000994.htm]",['NCIthesaurus'],"['ICD10CM:Q79.2', 'ICD9CM:756.72', 'MESH:D006554', 'NCI:C98997', 'OMIM:164750', 'SNOMEDCT_US_2022_09_01:49324006', 'SNOMEDCT_US_2022_09_01:5867007', 'UMLS_CUI:C0795690', 'UMLS_CUI:C1306503']",['DOID:0080015']
1041,0060329,ectopic pregnancy,"""A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity."" [url:http\://en.wikipedia.org/wiki/Ectopic_pregnancy, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000895.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6318', 'ICD10CM:O00', 'ICD9CM:633', 'MESH:D011271', 'NCI:C34945', 'SNOMEDCT_US_2022_09_01:156080003', 'UMLS_CUI:C0032987']",['DOID:229']
1042,0060330,Rapp-Hodgkin syndrome,"""An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate."" [url:http\://rarediseases.info.nih.gov/gard/5690/rapp-hodgkin-syndrome/resources/1]",['DO_rare_slim'],"['GARD:5690', 'MESH:C535289', 'OMIM:129400', 'ORDO:3022']",['DOID:2121']
1043,0060331,mitochondrial complex V (ATP synthase) deficiency nuclear type 2,"""A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21."" [url:http\://omim.org/entry/614052]",['DO_rare_slim'],"['ICD10CM:G71.3', 'OMIM:614052', 'ORDO:1194']",['DOID:0111143']
1044,0060332,mitochondrial complex V (ATP synthase) deficiency nuclear type 3,"""A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13."" [url:https\://pubmed.ncbi.nlm.nih.gov/20566710/]",['DO_rare_slim'],"['ICD10CM:E88.8', 'OMIM:614053']",['DOID:0111143']
1045,0060333,mitochondrial complex V (ATP synthase) deficiency nuclear type 4,"""A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5A1 gene on chromosome 18q."" [url:http\://omim.org/entry/615228]",['DO_rare_slim'],"['ICD10CM:E88.8', 'OMIM:615228', 'ORDO:254913']",['DOID:0111143']
1046,0060334,transient neonatal diabetes mellitus,"""A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients."" [url:http\://en.wikipedia.org/wiki/Transient_neonatal_diabetes_mellitus, url:https\://www.ncbi.nlm.nih.gov/pubmed/17349054]",['DO_rare_slim'],"['GARD:1839', 'ICD10CM:P70.2', 'OMIM:601410', 'OMIM:610374', 'OMIM:610582', 'ORDO:99886']",['DOID:11717']
1048,0060336,3-methylglutaconic aciduria,"""An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine."" [url:https\://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria]",['DO_rare_slim'],"['ICD10CM:E71.111', 'MESH:C579867', 'OMIM:PS250950', 'ORDO:289902']",['DOID:0060159']
1049,0060337,CEDNIK syndrome,"""A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21073448]","['DO_FlyBase_slim', 'DO_rare_slim']","['MESH:C537943', 'OMIM:609528', 'ORDO:66631', 'SNOMEDCT_US_2022_09_01:722385008', 'UMLS_CUI:C1836033']",['DOID:225']
1053,0060341,agnathia-otocephaly complex,"""A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17438667]",['DO_rare_slim'],"['ICD10CM:Q18.2', 'MESH:C562503', 'OMIM:202650', 'ORDO:990']",['DOID:0080015']
1054,0060342,acromelic frontonasal dysostosis,"""A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15264282]",['DO_rare_slim'],"['GARD:5539', 'MESH:C566345', 'OMIM:603671', 'ORDO:1827']",['DOID:1934']
1056,0060344,acrodermatitis chronica atrophicans,"""An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis."" [url:http\://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans, url:http\://www.dermis.net/dermisroot/en/35111/diagnose.htm]",['GOLD'],"['ICD9CM:701.8', 'SNOMEDCT_US_2022_09_01:201088002', 'UMLS_CUI:C0029805']",['DOID:2722']
1057,0060345,bacillary angiomatosis,"""A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs."" [url:http\://en.wikipedia.org/wiki/Bacillary_angiomatosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/9407154]","['DO_infectious_disease_slim', 'GOLD', 'NCIthesaurus']","['MESH:D016917', 'NCI:C3477', 'SNOMEDCT_US_2022_09_01:58213005', 'UMLS_CUI:C0085434']",['DOID:11102']
1058,0060346,Native American myopathy,"""A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18553514]",['DO_rare_slim'],"['GARD:8432', 'MESH:C538343', 'OMIM:255995', 'ORDO:168572', 'SNOMEDCT_US_2022_09_01:723439002', 'UMLS_CUI:C1850625']",['DOID:0081337']
1060,0060348,hypoparathyroidism-retardation-dysmorphism syndrome,"""A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in TBCE on chromosome 1q42.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15645691, url:https\://www.ncbi.nlm.nih.gov/pubmed/24339556]","['DO_rare_slim', 'NCIthesaurus']","['GARD:411', 'MESH:C537157', 'NCI:C133727', 'OMIM:241410', 'ORDO:2323', 'SNOMEDCT_US_2022_09_01:1197148005', 'UMLS_CUI:C1855840']",['DOID:225']
1061,0060349,"microcephaly with or without chorioretinopathy, lymphedema, or mental retardation","""A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10482868, url:https\://www.ncbi.nlm.nih.gov/pubmed/11302131, url:https\://www.ncbi.nlm.nih.gov/pubmed/25124931, url:https\://www.ncbi.nlm.nih.gov/pubmed/5936364]",['DO_rare_slim'],"['MESH:C537711', 'OMIM:152950', 'ORDO:2526', 'UMLS_CUI:C1835265']",['DOID:225']
1062,0060350,adenine phosphoribosyltransferase deficiency,"""A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24."" [url:http\://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency, url:https\://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency, url:https\://pubmed.ncbi.nlm.nih.gov/22700886/, url:https\://pubmed.ncbi.nlm.nih.gov/8864750/, url:https\://www.ncbi.nlm.nih.gov/pubmed/20150536]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10666', 'GARD:546', 'MESH:C538228', 'NCI:C121564', 'OMIM:614723', 'SNOMEDCT_US_2022_09_01:11852004', 'UMLS_CUI:C0268120', 'UMLS_CUI:C3665382']",['DOID:653']
1063,0060351,mitochondrial complex III deficiency nuclear type 2,"""A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern."" [url:http\://www.omim.org/entry/615157, url:https\://www.ncbi.nlm.nih.gov/pubmed/21278747]",['DO_FlyBase_slim'],['OMIM:615157'],['DOID:0111139']
1064,0060352,Kleefstra syndrome 1,"""A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region."" [url:https\://en.wikipedia.org/wiki/9q34_deletion_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15264279, url:https\://www.ncbi.nlm.nih.gov/pubmed/16826528, url:https\://www.ncbi.nlm.nih.gov/pubmed/21245904]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:8672', 'MESH:C563043', 'NCI:C129976', 'OMIM:610253', 'ORDO:261494', 'UMLS_CUI:C0795833']",['DOID:0080597']
1066,0060354,Stormorken syndrome,"""A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern."" [url:http\://ghr.nlm.nih.gov/condition/stormorken-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/24619930, url:https\://www.ncbi.nlm.nih.gov/pubmed/25577287]",['DO_rare_slim'],"['MESH:C566108', 'OMIM:185070', 'ORDO:3204', 'SNOMEDCT_US_2022_09_01:711407000', 'UMLS_CUI:C1861451']",['DOID:2218']
1067,0060355,amyotrophic lateral sclerosis type 22,"""An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35."" [url:http\://omim.org/entry/616208]",['DO_rare_slim'],['OMIM:616208'],['DOID:332']
1068,0060356,Vici syndrome,"""A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3."" [url:https\://en.wikipedia.org/wiki/Vici_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/21965116, url:https\://www.ncbi.nlm.nih.gov/pubmed/23222957]","['DO_rare_slim', 'NCIthesaurus']","['GARD:448', 'MESH:C535566', 'NCI:C138174', 'OMIM:242840', 'ORDO:1493', 'SNOMEDCT_US_2022_09_01:719824001', 'UMLS_CUI:C1855772']",['DOID:225']
1069,0060357,chylomicron retention disease,"""A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1."" [url:https\://en.wikipedia.org/wiki/Chylomicron_retention_disease, url:https\://www.ncbi.nlm.nih.gov/pubmed/10521380, url:https\://www.ncbi.nlm.nih.gov/pubmed/20920215, url:https\://www.ncbi.nlm.nih.gov/pubmed/3430059, url:https\://www.ncbi.nlm.nih.gov/pubmed/3792776]",['DO_rare_slim'],"['GARD:9683', 'ICD10CM:E78.3', 'MESH:C535460', 'OMIM:246700', 'ORDO:71', 'SNOMEDCT_US_2022_09_01:702364003', 'UMLS_CUI:C0795956']",['DOID:3146']
1070,0060358,multiple acyl-CoA dehydrogenase deficiency,"""An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal."" [url:http\://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii, url:https\://en.wikipedia.org/wiki/Glutaric_acidemia_type_2, url:https\://www.ncbi.nlm.nih.gov/pubmed/12815589, url:https\://www.ncbi.nlm.nih.gov/pubmed/22580358]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:E71.313', 'MESH:D054069', 'NCI:C84907', 'OMIM:231680', 'ORDO:26791', 'SNOMEDCT_US_2022_09_01:22886006', 'UMLS_CUI:C0268596', 'UMLS_CUI:C1856401', 'UMLS_CUI:C1856403', 'UMLS_CUI:C1856405']",['DOID:655']
1071,0060359,Sakati-Nyhan syndrome,"""An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections."" [url:https\://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome]",['DO_rare_slim'],"['GARD:115', 'ICD10CM:Q87.0', 'MESH:C537227', 'OMIM:101120', 'ORDO:3128']",['DOID:12960']
1073,0060361,punctate palmoplantar keratoderma,"""A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution."" [url:https\://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Punctate]",['DO_rare_slim'],"['ORDO:307967', 'SNOMEDCT_US_2022_09_01:402773000', 'UMLS_CUI:C1274216']",['DOID:3390']
1074,0060362,punctate palmoplantar keratoderma type III,"""A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene."" [url:https\://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-i]",['DO_rare_slim'],"['MESH:C535653', 'OMIM:101850', 'ORDO:38', 'SNOMEDCT_US_2022_09_01:111029001', 'UMLS_CUI:C0545044']",['DOID:0060361']
1075,0060363,glycerol kinase deficiency,"""An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21."" [url:https\://en.wikipedia.org/wiki/Glycerol_kinase_deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/22427807]","['DO_FlyBase_slim', 'DO_rare_slim']","['OMIM:307030', 'ORDO:408', 'SNOMEDCT_US_2022_09_01:297256008', 'UMLS_CUI:C0574108']",['DOID:655']
1076,0060364,Galloway-Mowat syndrome 1,"""A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25."" [url:https\://en.wikipedia.org/wiki/Galloway_Mowat_syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/26123727/]","['DO_rare_slim', 'NCIthesaurus']",['OMIM:251300'],['DOID:0080694']
1078,0060366,Hennekam syndrome,"""A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients."" [url:http\://ghr.nlm.nih.gov/condition/hennekam-syndrome, url:https\://en.wikipedia.org/wiki/Hennekam_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/14564208, url:https\://www.ncbi.nlm.nih.gov/pubmed/24870712, url:https\://www.ncbi.nlm.nih.gov/pubmed/2624276]",['DO_rare_slim'],"['GARD:3318', 'MESH:C537255', 'OMIM:235510', 'OMIM:616006', 'ORDO:2136', 'SNOMEDCT_US_2022_09_01:234146006', 'UMLS_CUI:C0340834']",['DOID:75']
1079,0060367,Parkinson's disease 1,"""A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1."" [url:http\://www.omim.org/entry/168601, url:https\://www.ncbi.nlm.nih.gov/pubmed/22315721]",['DO_rare_slim'],['OMIM:168601'],['DOID:0060892']
1080,0060368,Parkinson's disease 2,"""An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22315721]",['DO_rare_slim'],['OMIM:600116'],['DOID:0060894']
1081,0060369,Parkinson's disease 6,"""An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22315721]",['DO_rare_slim'],['OMIM:605909'],['DOID:0060894']
1082,0060370,Parkinson's disease 7,"""An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22315721]",['DO_rare_slim'],['OMIM:606324'],['DOID:0060894']
1083,0060371,Parkinson's disease 8,"""A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22315721]",['DO_rare_slim'],['OMIM:607060'],['DOID:0060892']
1084,0060372,Parkinson's disease 15,"""An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22315721]",['DO_rare_slim'],['OMIM:260300'],['DOID:0060894']
1085,0060373,orofaciodigital syndrome III,"""An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance."" [url:https\://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3]",['DO_rare_slim'],"['MESH:C557817', 'OMIM:258850', 'ORDO:2752', 'SNOMEDCT_US_2022_09_01:239030004', 'UMLS_CUI:C0406726']",['DOID:4501']
1086,0060374,orofaciodigital syndrome IV,"""An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene."" [url:https\://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4]",['DO_rare_slim'],"['MESH:C537133', 'OMIM:258860', 'ORDO:2753', 'SNOMEDCT_US_2022_09_01:239031000', 'UMLS_CUI:C0406727']",['DOID:4501']
1087,0060375,orofaciodigital syndrome V,"""An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32."" [url:https\://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5, url:https\://www.ncbi.nlm.nih.gov/pubmed/23972372]",['DO_rare_slim'],"['MESH:C557819', 'OMIM:174300', 'ORDO:2919', 'SNOMEDCT_US_2022_09_01:722105002', 'UMLS_CUI:C1868118']",['DOID:4501']
1088,0060376,Joubert syndrome with orofaciodigital defect,"""A Joubert syndrome that is characterized by orofaciodigital defect."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23716954]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4412', 'MESH:C536531', 'NCI:C124841', 'OMIM:277170', 'ORDO:2754', 'SNOMEDCT_US_2022_09_01:721873007', 'UMLS_CUI:C2745997']",['DOID:0050777']
1089,0060377,orofaciodigital syndrome VII,"""An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance."" [url:https\://omim.org/entry/608518]",['DO_rare_slim'],"['MESH:C563104', 'OMIM:608518', 'ORDO:90649']",['DOID:4501']
1090,0060378,orofaciodigital syndrome VIII,"""An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance."" [url:https\://rarediseases.info.nih.gov/diseases/4060/orofaciodigital-syndrome-8]",['DO_rare_slim'],"['MESH:C557820', 'OMIM:300484', 'ORDO:2755', 'SNOMEDCT_US_2022_09_01:722106001', 'UMLS_CUI:C0796101']",['DOID:4501']
1092,0060380,orofaciodigital syndrome X,"""An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones."" [url:https\://omim.org/entry/165590]",['DO_rare_slim'],"['ICD10CM:Q87.0', 'MESH:C563491', 'OMIM:165590', 'ORDO:2756']",['DOID:4501']
1093,0060381,orofaciodigital syndrome XI,"""An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects."" [url:https\://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11]",['DO_rare_slim'],"['MESH:C557821', 'OMIM:612913', 'ORDO:141000', 'SNOMEDCT_US_2022_09_01:718681002', 'UMLS_CUI:C2752048']",['DOID:4501']
1094,0060382,orofaciodigital syndrome IX,"""An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue,  harmartomatous tongue, hypertelorism, telecanthus, strabismus,bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance."" [url:https\://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9, url:https\://www.ncbi.nlm.nih.gov/pubmed/18000902]",['DO_rare_slim'],"['GARD:10520', 'MESH:C557818', 'OMIM:258865', 'ORDO:141007', 'SNOMEDCT_US_2022_09_01:718680001', 'UMLS_CUI:C0796102']",['DOID:4501']
1095,0060383,acrofacial dysostosis Rodriguez type,"""An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance."" [url:https\://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type]",['DO_rare_slim'],"['GARD:496', 'MESH:C538183', 'OMIM:201170', 'ORDO:1788', 'SNOMEDCT_US_2022_09_01:720430002', 'UMLS_CUI:C1860119']",['DOID:0060379']
1096,0060384,"acrofacial dysostosis, Catania type","""An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias."" [url:https\://rarediseases.info.nih.gov/diseases/494/acrofacial-dysostosis-catania-type]",['DO_rare_slim'],"['GARD:494', 'MESH:C538182', 'OMIM:101805', 'ORDO:1786', 'SNOMEDCT_US_2022_09_01:720419000', 'UMLS_CUI:C2931762']",['DOID:0060379']
1097,0060385,"acrofacial dysostosis, Patagonia type","""An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance."" [url:https\://omim.org/entry/601829]",['DO_rare_slim'],"['MESH:C538185', 'OMIM:601829', 'ORDO:1787', 'SNOMEDCT_US_2022_09_01:720429007', 'UMLS_CUI:C1866168']",['DOID:0060379']
1098,0060386,Chilblain lupus,"""A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene."" [url:https\://www.omim.org/entry/610448]",['DO_rare_slim'],"['MESH:C535924', 'OMIM:610448', 'OMIM:614415', 'ORDO:90280', 'UMLS_CUI:C0024145']",['DOID:0050169']
1099,0060387,chondrodysplasia Blomstrand type,"""An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene."" [url:https\://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type]","['DO_rare_slim', 'NCIthesaurus']","['GARD:914', 'MESH:C537914', 'NCI:C131420', 'OMIM:215045', 'ORDO:50945', 'UMLS_CUI:C1859148']",['DOID:2256']
1102,0060390,distal 10q deletion syndrome,"""A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10."" [url:https\://rarediseases.info.nih.gov/diseases/3711/chromosome-10q-deletion]",['DO_rare_slim'],"['ICD10CM:Q93.5', 'MESH:C567182', 'OMIM:609625', 'ORDO:96148']",['DOID:0060388']
1103,0060391,chromosome 13q14 deletion syndrome,"""A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13."" [url:https\://rarediseases.org/rare-diseases/chromosome-13-partial-monosomy-13q/]",['DO_rare_slim'],"['ICD10CM:Q93.5', 'OMIM:613884', 'ORDO:1587']",['DOID:0060388']
1104,0060392,chromosome 14q11-q22 deletion syndrome,"""A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14."" [url:https\://pubmed.ncbi.nlm.nih.gov/21744488]",['DO_rare_slim'],"['OMIM:613457', 'ORDO:261120']",['DOID:0060388']
1105,0060393,chromosome 15q11.2 deletion syndrome,"""A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15."" [url:https\://www.omim.org/entry/615656]",['DO_rare_slim'],"['OMIM:615656', 'ORDO:261183', 'UMLS_CUI:C3180937']",['DOID:0060388']
1106,0060394,chromosome 15q13.3 microdeletion syndrome,"""A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15."" [url:https\://rarediseases.info.nih.gov/diseases/10296/15q133-microdeletion-syndrome]",['DO_rare_slim'],"['GARD:10296', 'ICD10CM:Q93.5', 'MESH:C567439', 'OMIM:612001', 'ORDO:199318']",['DOID:0060388']
1107,0060395,chromosome 15q24 deletion syndrome,"""A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15."" [url:https\://www.omim.org/entry/613406]",['DO_rare_slim'],"['GARD:12219', 'ICD10CM:Q93.5', 'MESH:C579849', 'OMIM:613406', 'ORDO:94065']",['DOID:0060388']
1109,0060397,chromosome 15q26-qter deletion syndrome,"""A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia."" [url:https\://pubmed.ncbi.nlm.nih.gov/18651844]",['DO_rare_slim'],"['ICD10CM:Q93.5', 'MESH:C567232', 'OMIM:612626', 'ORDO:1596']",['DOID:0060388']
1110,0060398,chromosome 16p11.2 deletion syndrome,"""A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene."" [url:https\://pubmed.ncbi.nlm.nih.gov/20808231]",['DO_rare_slim'],"['ICD10CM:Q93.5', 'OMIM:613444', 'ORDO:261222']",['DOID:0060388']
1112,0060400,chromosome 16p12.2-p11.2 deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment."" [url:https\://pubmed.ncbi.nlm.nih.gov/19449418]",['DO_rare_slim'],"['ICD10CM:Q93.5', 'OMIM:613604', 'ORDO:261211']",['DOID:0060388']
1114,0060402,chromosome 17p13.1 deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline."" [url:https\://pubmed.ncbi.nlm.nih.gov/19617690]",['DO_rare_slim'],"['GARD:10996', 'MESH:D054221', 'OMIM:613776']",['DOID:0060388']
1115,0060403,chromosome 17q11.2 deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene."" [url:https\://pubmed.ncbi.nlm.nih.gov/10631140/]",['DO_rare_slim'],"['ICD10CM:Q85.0', 'MESH:C563524', 'OMIM:613675', 'ORDO:97685']",['DOID:0060388']
1116,0060404,chromosome 17q12 deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder."" [url:https\://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome]",['DO_rare_slim'],"['GARD:13297', 'ICD10CM:Q93.5', 'OMIM:614527', 'ORDO:261265']",['DOID:0060388']
1117,0060405,chromosome 17q23.1-q23.2 deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities."" [url:https\://pubmed.ncbi.nlm.nih.gov/20598276]",['DO_rare_slim'],"['GARD:10936', 'ICD10CM:Q93.5', 'OMIM:613355', 'ORDO:261279']",['DOID:0060388']
1118,0060406,chromosome 18p deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18."" [url:https\://pubmed.ncbi.nlm.nih.gov/16691587]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8631', 'MESH:C538309', 'NCI:C84521', 'OMIM:146390', 'ORDO:1598', 'SNOMEDCT_US_2022_09_01:205632001', 'UMLS_CUI:C0432442']",['DOID:0060388']
1119,0060407,chromosome 18q deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations."" [url:https\://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome, url:https\://ghr.nlm.nih.gov/condition/proximal-18q-deletion-syndrome]",['DO_rare_slim'],"['ICD10CM:Q93.5', 'MESH:C536580', 'OMIM:601808', 'ORDO:1600']",['DOID:0060388']
1120,0060408,chromosome 19q13.11 deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties."" [url:https\://pubmed.ncbi.nlm.nih.gov/24243649]",['DO_rare_slim'],"['GARD:10592', 'MESH:C567810', 'OMIM:613026', 'ORDO:217346', 'UMLS_CUI:C2751651']",['DOID:0060388']
1121,0060409,NFIA-related disorder,"""A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK542336/]",['DO_rare_slim'],"['ICD10CM:Q93.5', 'MESH:C535594', 'OMIM:613735', 'ORDO:401986']",['DOID:225']
1122,0060410,chromosome 1p36 deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears."" [url:https\://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6082', 'MESH:C535362', 'NCI:C74983', 'OMIM:607872', 'ORDO:1606', 'SNOMEDCT_US_2022_09_01:699306003', 'UMLS_CUI:C1842870']",['DOID:0060388']
1123,0060411,chromosome 1q21.1 deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems."" [url:https\://ghr.nlm.nih.gov/condition/1q211-microdeletion]",['DO_rare_slim'],"['GARD:10813', 'ICD10CM:Q93.5', 'OMIM:612474', 'ORDO:250989']",['DOID:0060388']
1124,0060412,chromosome 1q41-q42 deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region."" [url:https\://pubmed.ncbi.nlm.nih.gov/16736036/]",['DO_rare_slim'],"['GARD:3738', 'ICD10CM:Q93.5', 'OMIM:612530', 'ORDO:250999']",['DOID:0060388']
1125,0060413,"chromosome 22q11.2 deletion syndrome, distal","""A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome."" [url:https\://pubmed.ncbi.nlm.nih.gov/18179902/]",['DO_rare_slim'],"['MESH:C567511', 'OMIM:611867', 'ORDO:261330']",['DOID:0060388']
1127,0060415,chromosome 2p16.1-p15 deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate."" [url:https\://pubmed.ncbi.nlm.nih.gov/26019277/]",['DO_rare_slim'],"['GARD:13391', 'ICD10CM:Q93.5', 'MESH:C567289', 'OMIM:612513', 'ORDO:261349']",['DOID:0060388']
1129,0060417,3p deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia."" [url:https\://ghr.nlm.nih.gov/condition/3p-deletion-syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/19760623]",['DO_rare_slim'],"['ICD10CM:Q93.5', 'OMIM:613792', 'ORDO:1620']",['DOID:0060388']
1130,0060418,chromosome 3q13.31 deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia."" [url:https\://pubmed.ncbi.nlm.nih.gov/22180640/]",['DO_rare_slim'],"['MESH:C536808', 'OMIM:615433', 'ORDO:1621', 'SNOMEDCT_US_2022_09_01:726705007', 'UMLS_CUI:C2931338']",['DOID:0060388']
1131,0060419,chromosome 3q29 microdeletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region."" [url:https\://ghr.nlm.nih.gov/condition/3q29-microdeletion-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK385289/]",['DO_rare_slim'],"['GARD:11974', 'MESH:C567184', 'OMIM:609425', 'ORDO:65286']",['DOID:0060388']
1132,0060420,chromosome 4q21 deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region."" [url:https\://pubmed.ncbi.nlm.nih.gov/20522426/]",['DO_rare_slim'],"['OMIM:613509', 'ORDO:238750']",['DOID:0060388']
1134,0060422,chromosome 6pter-p24 deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region."" [url:https\://pubmed.ncbi.nlm.nih.gov/18629875/]",['DO_rare_slim'],"['ICD10CM:Q93.5', 'MESH:C567239', 'OMIM:612582', 'ORDO:96125']",['DOID:0060388']
1136,0060424,chromosome 6q24-q25 deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region."" [url:https\://pubmed.ncbi.nlm.nih.gov/17512813/]",['DO_rare_slim'],"['OMIM:612863', 'ORDO:251056']",['DOID:0060388']
1137,0060425,chromosome 8q21.11 deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features."" [url:https\://pubmed.ncbi.nlm.nih.gov/21802062/]",['DO_rare_slim'],"['ICD10CM:Q93.5', 'OMIM:614230', 'ORDO:284160']",['DOID:0060388']
1139,0060427,chromosome Xp21 deletion syndrome,"""A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region."" [url:https\://pubmed.ncbi.nlm.nih.gov/17089405/]",['DO_rare_slim'],"['ICD10CM:Q99.8', 'OMIM:300679', 'ORDO:261476']",['DOID:0060388']
1140,0060428,SATB2-associated syndrome,"""A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak,  severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2."" [url:https\://ghr.nlm.nih.gov/condition/satb2-associated-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK458647/]",['DO_rare_slim'],"['ICD10CM:Q93.5', 'MESH:C567350', 'OMIM:612313', 'ORDO:251019']",['DOID:225']
1142,0060430,chromosome 16p11.2 duplication syndrome,"""A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language."" [url:https\://ghr.nlm.nih.gov/condition/16p112-duplication]",['DO_rare_slim'],"['ICD10CM:Q92.3', 'OMIM:614671', 'ORDO:370079']",['DOID:0060429']
1143,0060431,chromosome 16p13.3 duplication syndrome,"""A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region."" [url:https\://pubmed.ncbi.nlm.nih.gov/19833603/]",['DO_rare_slim'],"['ICD10CM:Q92.3', 'OMIM:613458', 'ORDO:96078']",['DOID:0060429']
1144,0060432,chromosome 17p13.3 duplication syndrome,"""A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17p13.3 region."" [url:https\://pubmed.ncbi.nlm.nih.gov/19136950/]",['DO_rare_slim'],"['ICD10CM:Q92.3', 'MESH:C567705', 'OMIM:613215', 'ORDO:217385']",['DOID:0060429']
1145,0060433,chromosome 17q12 duplication syndrome,"""A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region."" [url:https\://ghr.nlm.nih.gov/condition/17q12-duplication, url:https\://www.ncbi.nlm.nih.gov/books/NBK344340/]",['DO_rare_slim'],"['GARD:13296', 'ICD10CM:Q92.3', 'OMIM:614526', 'ORDO:261272']",['DOID:0060429']
1146,0060434,chromosome 17q21.31 duplication syndrome,"""A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region."" [url:https\://pubmed.ncbi.nlm.nih.gov/19502243/]",['DO_rare_slim'],"['ICD10CM:Q92.3', 'OMIM:613533', 'ORDO:217340']",['DOID:0060429']
1147,0060435,chromosome 1q21.1 duplication syndrome,"""A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region."" [url:https\://ghr.nlm.nih.gov/condition/1q211-microduplication]",['DO_rare_slim'],"['GARD:10591', 'ICD10CM:Q92.3', 'MESH:C567290', 'OMIM:612475', 'ORDO:250994']",['DOID:0060429']
1148,0060436,chromosome 22q11.2 microduplication syndrome,"""A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region."" [url:https\://ghr.nlm.nih.gov/condition/22q112-duplication]",['DO_rare_slim'],"['ICD10CM:Q92.3', 'MESH:C567224', 'OMIM:608363', 'ORDO:1727']",['DOID:0060429']
1150,0060438,Cole-Carpenter syndrome,"""An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10842295]","['DO_rare_slim', 'NCIthesaurus']","['MESH:C535963', 'NCI:C130985', 'OMIM:112240', 'OMIM:616294', 'ORDO:2050']",['DOID:12347']
1151,0060439,lysinuric protein intolerance,"""An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11."" [url:http\://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance, url:http\://www.ncbi.nlm.nih.gov/books/NBK1361/, url:https\://en.wikipedia.org/wiki/Lysinuric_protein_intolerance, url:https\://www.ncbi.nlm.nih.gov/pubmed/1155480]","['DO_rare_slim', 'NCIthesaurus']","['GARD:3335', 'MESH:C562687', 'NCI:C121563', 'OMIM:222700', 'ORDO:470', 'SNOMEDCT_US_2022_09_01:13138006', 'UMLS_CUI:C0268647']",['DOID:9252']
1156,0060444,granular corneal dystrophy 2,"""An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface."" [url:https\://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm, url:https\://www.omim.org/entry/607541]",['DO_rare_slim'],"['MESH:C535474', 'OMIM:607541', 'ORDO:98963', 'SNOMEDCT_US_2022_09_01:397568004', 'UMLS_CUI:C1275685']",['DOID:12318']
1157,0060445,congenital stromal corneal dystrophy,"""A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth."" [url:https\://ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy, url:https\://www.ncbi.nlm.nih.gov/books/NBK2690/]",['DO_rare_slim'],"['ICD10CM:H18.5', 'MESH:C566452', 'OMIM:610048', 'ORDO:101068']",['DOID:0060442']
1158,0060446,X-linked endothelial corneal dystrophy,"""A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients."" [url:https\://pubmed.ncbi.nlm.nih.gov/16490493/]",['DO_rare_slim'],"['ICD10CM:H18.5', 'MESH:C567587', 'OMIM:300779', 'ORDO:293621']",['DOID:0060443']
1159,0060447,epithelial basement membrane dystrophy,"""An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium."" [url:https\://pubmed.ncbi.nlm.nih.gov/16652336/]",['DO_rare_slim'],"['ICD10CM:H18.5', 'MESH:C535477', 'OMIM:121820', 'ORDO:98956']",['DOID:0060440']
1160,0060448,Fleck corneal dystrophy,"""A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34."" [url:https\://pubmed.ncbi.nlm.nih.gov/23288988/, url:https\://pubmed.ncbi.nlm.nih.gov/26396486]",['DO_rare_slim'],"['MESH:C563256', 'OMIM:121850', 'ORDO:98970', 'SNOMEDCT_US_2022_09_01:417183007', 'UMLS_CUI:C1562113']",['DOID:0060442']
1161,0060449,gelatinous drop-like corneal dystrophy,"""An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32."" [url:https\://pubmed.ncbi.nlm.nih.gov/10192395/]",['DO_rare_slim'],"['MESH:C535480', 'NCI:C142805', 'OMIM:204870', 'ORDO:98957', 'SNOMEDCT_US_2022_09_01:419900000', 'UMLS_CUI:C0339273']",['DOID:0060440']
1162,0060450,Lisch epithelial corneal dystrophy,"""An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns."" [url:https\://pubmed.ncbi.nlm.nih.gov/11024418/]",['DO_rare_slim'],"['ICD10CM:H18.5', 'MESH:C567588', 'OMIM:300778', 'ORDO:98955']",['DOID:0060440']
1163,0060451,Meesmann corneal dystrophy,"""An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium."" [url:https\://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9688', 'ICD10CM:H18.52', 'ICD9CM:371.51', 'MESH:D053559', 'NCI:C84795', 'OMIM:PS122100', 'ORDO:98954', 'SNOMEDCT_US_2022_09_01:193833008', 'UMLS_CUI:C0339277']",['DOID:0060440']
1164,0060452,posterior amorphous corneal dystrophy,"""A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic  and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome."" [url:https\://pubmed.ncbi.nlm.nih.gov/27096414/]",['DO_rare_slim'],"['ICD10CM:H18.5', 'MESH:C567546', 'OMIM:612868', 'ORDO:98971']",['DOID:0060442']
1165,0060453,Reis-Bucklers corneal dystrophy,"""An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea."" [url:https\://www.omim.org/entry/608470]",['DO_rare_slim'],"['MESH:C535476', 'OMIM:608470', 'ORDO:98961', 'SNOMEDCT_US_2022_09_01:231930000', 'UMLS_CUI:C0339278']",['DOID:0060441']
1166,0060454,subepithelial mucinous corneal dystrophy,"""An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life."" [url:https\://pubmed.ncbi.nlm.nih.gov/8352693/]",['DO_rare_slim'],"['ICD10CM:H18.5', 'MESH:C567547', 'OMIM:612867', 'ORDO:98959']",['DOID:0060440']
1167,0060455,Thiel-Behnke corneal dystrophy,"""An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced  gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea."" [url:https\://www.omim.org/entry/602082]",['DO_rare_slim'],"['MESH:C535942', 'OMIM:602082', 'ORDO:98960', 'SNOMEDCT_US_2022_09_01:417065002', 'UMLS_CUI:C1562894']",['DOID:0060441']
1168,0060456,Schnyder corneal dystrophy,"""A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36."" [url:https\://pubmed.ncbi.nlm.nih.gov/23169578/]",['DO_rare_slim'],"['GARD:9277', 'MESH:C535475', 'OMIM:121800', 'ORDO:98967', 'SNOMEDCT_US_2022_09_01:420212002', 'UMLS_CUI:C0271287']",['DOID:0060442']
1169,0060457,posterior polymorphous corneal dystrophy,"""A corneal dystrophy that is characterised by changes in Descemet's membrane and endothelial layer."" [url:https\://en.wikipedia.org/wiki/Posterior_polymorphous_corneal_dystrophy]",['DO_rare_slim'],"['ICD10CM:H18.5', 'MESH:C562745', 'OMIM:PS122000', 'ORDO:98973']",['DOID:2566']
1171,0060459,chromosome 3q29 microduplication syndrome,"""A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region."" [url:https\://ghr.nlm.nih.gov/condition/3q29-microduplication-syndrome]",['DO_rare_slim'],"['GARD:10360', 'ICD10CM:Q92.3', 'MESH:C567626', 'OMIM:611936', 'ORDO:251038']",['DOID:0060429']
1172,0060460,chromosome 5p13 duplication syndrome,"""A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region."" [url:https\://pubmed.ncbi.nlm.nih.gov/19052029/]",['DO_rare_slim'],"['ICD10CM:Q92.3', 'MESH:C567717', 'OMIM:613174', 'ORDO:329802']",['DOID:0060429']
1173,0060461,chromosome Xp11.23-p11.22 duplication syndrome,"""A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region."" [url:https\://pubmed.ncbi.nlm.nih.gov/19716111/]",['DO_rare_slim'],"['ICD10CM:Q99.8', 'MESH:C567585', 'OMIM:300801', 'ORDO:217377']",['DOID:0060429']
1174,0060462,Desbuquois dysplasia,"""An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19853239, url:https\://www.ncbi.nlm.nih.gov/pubmed/21037275]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1818', 'MESH:C535943', 'NCI:C124056', 'OMIM:251450', 'OMIM:615777', 'ORDO:1425', 'SNOMEDCT_US_2022_09_01:254099008', 'UMLS_CUI:C0432242']",['DOID:2256']
1175,0060463,NUT midline carcinoma,"""A carcinoma that is characterized by a  BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT)  at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum."" [url:https\://en.wikipedia.org/wiki/NUT_midline_carcinoma, url:https\://omim.org/entry/608749, url:https\://omim.org/entry/608963, url:https\://www.ncbi.nlm.nih.gov/pubmed/21221870, url:https\://www.ncbi.nlm.nih.gov/pubmed/25685583, url:https\://www.ncbi.nlm.nih.gov/pubmed/26378054, url:https\://www.ncbi.nlm.nih.gov/pubmed/26402248]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C45716', 'SNOMEDCT_US_2022_09_01:733922002', 'UMLS_CUI:C1707291']",['DOID:305']
1176,0060464,Feingold syndrome,"""A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation."" [url:http\://ghr.nlm.nih.gov/condition/feingold-syndrome, url:https\://en.wikipedia.org/wiki/Feingold_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/14518066, url:https\://www.ncbi.nlm.nih.gov/pubmed/16906565]",['DO_rare_slim'],"['GARD:8407', 'ICD10CM:Q87.8', 'MESH:C537734', 'OMIM:164280', 'OMIM:614326', 'ORDO:1305']",['DOID:225']
1177,0060465,fibrochondrogenesis,"""An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen."" [url:https\://ghr.nlm.nih.gov/condition/fibrochondrogenesis]",['DO_rare_slim'],"['GARD:2321', 'MESH:C562524', 'OMIM:PS228520', 'ORDO:2021', 'SNOMEDCT_US_2022_09_01:17144009', 'UMLS_CUI:C0265282']",['DOID:2256']
1178,0060466,gingival fibromatosis,"""A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11868160, url:https\://www.ncbi.nlm.nih.gov/pubmed/17385395]",['DO_rare_slim'],"['MESH:C562884', 'OMIM:135300', 'OMIM:605544', 'OMIM:609955', 'OMIM:611010', 'ORDO:2024', 'SNOMEDCT_US_2022_09_01:109620006', 'UMLS_CUI:C0399440']",['DOID:3086']
1179,0060467,humeroradial synostosis,"""A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity."" [url:https\://rarediseases.info.nih.gov/diseases/2748/humeroradial-synostosis]",['DO_rare_slim'],"['GARD:2748', 'MESH:C535284', 'OMIM:143050', 'OMIM:236400', 'ORDO:3265', 'SNOMEDCT_US_2021_07_31:205329008']",['DOID:11971']
1180,0060468,Holt-Oram syndrome,"""A syndrome characterized by congenital anomalies located_in heart and located_in upper limb."" [url:http\://ghr.nlm.nih.gov/condition/holt-oram-syndrome, url:https\://en.wikipedia.org/wiki/Holt-Oram_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/12223419, url:https\://www.ncbi.nlm.nih.gov/pubmed/12436037]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6666', 'ICD10CM:Q87.2', 'MESH:C535326', 'NCI:C125592', 'OMIM:142900', 'ORDO:392', 'SNOMEDCT_US_2022_09_01:205814003', 'UMLS_CUI:C0265264']",['DOID:225']
1181,0060469,Miller-Dieker lissencephaly syndrome,"""A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene."" [url:http\://ghr.nlm.nih.gov/condition/miller-dieker-syndrome, url:https\://en.wikipedia.org/wiki/Miller-Dieker_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/21239872, url:https\://www.ncbi.nlm.nih.gov/pubmed/9473821]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:Q93.88', 'MESH:D054221', 'NCI:C124852', 'OMIM:247200', 'ORDO:531', 'SNOMEDCT_US_2022_09_01:253148005', 'UMLS_CUI:C0265219']",['DOID:225']
1182,0060470,salt and pepper syndrome,"""A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in SIAT9 on chromosome 2p11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24026681]",['DO_rare_slim'],"['OMIM:609056', 'ORDO:370938']",['DOID:225']
1183,0060471,fetal valproate syndrome,"""A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17090909, url:https\://www.ncbi.nlm.nih.gov/pubmed/25400349]","['DO_rare_slim', 'NCIthesaurus']","['MESH:C536525', 'NCI:C98930', 'OMIM:609442', 'ORDO:1906', 'SNOMEDCT_US_2022_09_01:205792006', 'UMLS_CUI:C0236026']",['DOID:225']
1184,0060472,Kindler syndrome,"""A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling."" [url:https\://en.wikipedia.org/wiki/Kindler_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/12668616]",['DO_rare_slim'],"['GARD:4391', 'MESH:C536321', 'OMIM:173650', 'ORDO:306539']",['DOID:37']
1185,0060473,Kabuki syndrome,"""A syndrome characterized by  multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects."" [url:http\://ghr.nlm.nih.gov/condition/kabuki-syndrome, url:https\://en.wikipedia.org/wiki/Kabuki_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/25281733, url:https\://www.ncbi.nlm.nih.gov/pubmed/25972376, url:https\://www.ncbi.nlm.nih.gov/pubmed/26512256]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6810', 'MESH:C537705', 'NCI:C124837', 'OMIM:147920', 'OMIM:300867', 'ORDO:2322', 'SNOMEDCT_US_2022_09_01:205805008', 'UMLS_CUI:C0796004']",['DOID:225']
1186,0060474,familial erythrocytosis 2,"""A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15725900]",['DO_rare_slim'],"['ICD10CM:D75.1', 'OMIM:263400', 'ORDO:238557']",['DOID:10780']
1188,0060476,Perlman syndrome,"""A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome."" [url:https\://en.wikipedia.org/wiki/Perlman_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/18780370, url:https\://www.ncbi.nlm.nih.gov/pubmed/22306653]",['DO_rare_slim'],"['GARD:3936', 'ICD10CM:Q87.3', 'MESH:C536399', 'OMIM:267000', 'ORDO:2849']",['DOID:225']
1189,0060478,Zika fever,"""A viral infectious disease that has_material_basis_in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and  neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain."" [url:http\://ecdc.europa.eu/en/healthtopics/zika_virus_infection/factsheet-health-professionals/Pages/factsheet_health_professionals.aspx, url:http\://www.who.int/mediacentre/factsheets/zika/en/, url:https\://en.wikipedia.org/wiki/Zika_fever, url:https\://www.cdc.gov/zika/about/]",['DO_infectious_disease_slim'],"['ICD10CM:A92.8', 'MESH:D000071243']",['DOID:934']
1190,0060479,Shwachman-Diamond syndrome,"""A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities."" [url:http\://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome, url:https\://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/18356737, url:https\://www.ncbi.nlm.nih.gov/pubmed/22201042]",['DO_rare_slim'],"['GARD:4863', 'ICD10CM:D61.0', 'MESH:C537330', 'OMIM:260400']",['DOID:225']
1191,0060480,left ventricular noncompaction,"""An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16567565]",['DO_rare_slim'],"['GARD:10985', 'OMIM:604169', 'ORDO:54260']",['DOID:0060036']
1192,0060481,Goldberg-Shprintzen syndrome,"""A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1."" [url:https\://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15883926, url:https\://www.ncbi.nlm.nih.gov/pubmed/23427148]",['DO_rare_slim'],"['GARD:9849', 'MESH:C537279', 'OMIM:609460', 'ORDO:66629', 'SNOMEDCT_US_2022_09_01:717822006', 'UMLS_CUI:C1836123']",['DOID:225']
1193,0060482,oculoauricular syndrome,"""A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18423520, url:https\://www.ncbi.nlm.nih.gov/pubmed/25574057]",['DO_rare_slim'],"['ICD10CM:Q87.8', 'MESH:C567416', 'OMIM:612109', 'ORDO:157962']",['DOID:225']
1194,0060483,MEDNIK syndrome,"""A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23423674, url:https\://www.ncbi.nlm.nih.gov/pubmed/24754424]",['DO_rare_slim'],"['OMIM:609313', 'ORDO:171851']",['DOID:225']
1195,0060484,EAST syndrome,"""A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19289823, url:https\://www.ncbi.nlm.nih.gov/pubmed/19420365, url:https\://www.ncbi.nlm.nih.gov/pubmed/23471908]",['DO_rare_slim'],"['MESH:C557674', 'OMIM:612780', 'ORDO:199343', 'SNOMEDCT_US_2022_09_01:721207002', 'UMLS_CUI:C2748572']",['DOID:225']
1196,0060485,Mowat-Wilson syndrome,"""A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17958891, url:https\://www.ncbi.nlm.nih.gov/pubmed/23466526]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9673', 'MESH:C536990', 'NCI:C74999', 'OMIM:235730', 'ORDO:2152', 'SNOMEDCT_US_2022_09_01:703535000', 'UMLS_CUI:C1856113']",['DOID:225']
1197,0060486,Perry syndrome,"""A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13."" [url:http\://www.ncbi.nlm.nih.gov/books/NBK47027/, url:https\://ghr.nlm.nih.gov/condition/perry-syndrome]",['DO_rare_slim'],"['GARD:10453', 'MESH:C566822', 'OMIM:168605', 'ORDO:178509']",['DOID:225']
1198,0060488,Pitt-Hopkins syndrome,"""A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21."" [url:http\://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome, url:https\://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/17436255, url:https\://www.ncbi.nlm.nih.gov/pubmed/26621827, url:https\://www.ncbi.nlm.nih.gov/pubmed/728011]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:4372', 'MESH:C537403', 'NCI:C129872', 'OMIM:610954', 'ORDO:2896', 'SNOMEDCT_US_2022_09_01:702344008', 'UMLS_CUI:C1970431']",['DOID:225']
1199,0060490,Schimke immuno-osseous dysplasia,"""A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules,  unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene."" [url:http\://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1376/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10653321]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4984', 'MESH:C536629', 'NCI:C135087', 'OMIM:242900', 'ORDO:1830', 'SNOMEDCT_US_2022_09_01:723995003', 'UMLS_CUI:C0877024']",['DOID:0080027']
1200,0060491,SPOAN syndrome,"""A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15852396, url:https\://www.ncbi.nlm.nih.gov/pubmed/26385635]",['DO_rare_slim'],"['ICD10CM:G11.4', 'MESH:C563702', 'OMIM:609541', 'ORDO:320406']",['DOID:1289']
1240,0060534,hepatoid adenocarcinoma,"""An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver."" [url:https\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['ICDO:8576/3', 'NCI:C66950']",['DOID:299']
1241,0060535,Warsaw breakage syndrome,"""A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11."" [url:https\://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/20137776, url:https\://www.ncbi.nlm.nih.gov/pubmed/21490908, url:https\://www.ncbi.nlm.nih.gov/pubmed/23033317, url:https\://www.ncbi.nlm.nih.gov/pubmed/26089203, url:https\://www.ncbi.nlm.nih.gov/pubmed/31169992]",['DO_rare_slim'],"['GARD:13708', 'OMIM:613398', 'ORDO:280558']",['DOID:225']
1242,0060536,mitochondrial complex I deficiency,"""A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded."" [url:http\://www.omim.org/entry/252010]",['DO_rare_slim'],"['GARD:3908', 'MESH:C537475', 'OMIM:252010', 'ORDO:2609', 'SNOMEDCT_US_2022_09_01:237988006', 'UMLS_CUI:C1838979']",['DOID:700']
1243,0060537,mitochondrial complex II deficiency,"""A mitochondrial metabolism disease characerized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23322652]",['DO_rare_slim'],"['GARD:5053', 'ICD10CM:G71.3', 'MESH:C565375', 'OMIM:252011', 'ORDO:3208']",['DOID:700']
1244,0060538,purpura fulminans,"""A purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagulation. It is often fatal."" [url:https\://en.wikipedia.org/wiki/Purpura_fulminans, url:https\://www.ncbi.nlm.nih.gov/pubmed/26955583, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49566]",['DO_rare_slim'],"['ICD10CM:D65', 'MESH:D055665', 'ORDO:49566']",['DOID:3326']
1255,0060549,Barber-Say syndrome,"""A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37."" [url:https\://rarediseases.info.nih.gov/gard/819/barber-say-syndrome/resources/1, url:https\://www.ncbi.nlm.nih.gov/pubmed/27196381]",['DO_rare_slim'],"['GARD:819', 'MESH:C537908', 'OMIM:209885', 'ORDO:1231', 'SNOMEDCT_US_2022_09_01:408537003', 'UMLS_CUI:C1319466']",['DOID:225']
1256,0060550,ablepharon macrostomia syndrome,"""A syndrome characterized by  ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37."" [url:http\://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/, url:https\://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/27196381]",['DO_rare_slim'],"['GARD:3', 'MESH:C535557', 'OMIM:200110', 'ORDO:920', 'SNOMEDCT_US_2022_09_01:718575002', 'UMLS_CUI:C1860224']",['DOID:225']
1257,0060551,poikiloderma with neutropenia,"""A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20734427]",['DO_rare_slim'],"['GARD:4085', 'ICD10CM:D82.8', 'MESH:C565820', 'OMIM:604173', 'ORDO:221046']",['DOID:37']
1258,0060556,Kufor-Rakeb syndrome,"""An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15986421, url:https\://www.ncbi.nlm.nih.gov/pubmed/23791710]",['DO_rare_slim'],"['MESH:C537177', 'OMIM:606693', 'ORDO:306674', 'SNOMEDCT_US_2022_09_01:723992000', 'UMLS_CUI:C1847640']",['DOID:0060894']
1260,0060558,lethal congenital contracture syndrome,"""A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22610851]",['DO_rare_slim'],"['GARD:12643', 'ICD10CM:Q68.8', 'OMIM:PS253310', 'ORDO:294965']",['DOID:225']
1261,0060559,lethal congenital contracture syndrome 1,"""A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9683599]",['DO_rare_slim'],"['GARD:3227', 'MESH:C537194', 'OMIM:253310', 'ORDO:1486', 'SNOMEDCT_US_2022_09_01:715418007', 'UMLS_CUI:C1854664']",['DOID:0060558']
1262,0060560,lethal congenital contracture syndrome 2,"""A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15378541, url:https\://www.ncbi.nlm.nih.gov/pubmed/17701904]",['DO_rare_slim'],"['GARD:9177', 'MESH:C564369', 'OMIM:607598', 'ORDO:137776']",['DOID:0060558']
1264,0060563,Char syndrome,"""A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits."" [url:https\://omim.org/entry/169100]",['DO_rare_slim'],"['GARD:1237', 'MESH:C566815', 'OMIM:169100']",['DOID:13832']
1266,0060565,Ritscher-Schinzel syndrome,"""A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism,  ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies."" [url:https\://en.wikipedia.org/wiki/3C_syndrome]",['DO_rare_slim'],"['MESH:C535313', 'OMIM:PS220210', 'ORDO:7', 'SNOMEDCT_US_2022_09_01:718556007', 'UMLS_CUI:C0796137']",['DOID:225']
1267,0060566,Holzgreve-Wagner-Rehder Syndrome,"""A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/3232694]",['DO_rare_slim'],"['MESH:C535327', 'OMIM:236110', 'ORDO:2167', 'SNOMEDCT_US_2022_09_01:783159001', 'UMLS_CUI:C1856095']",['DOID:225']
1268,0060567,erythema elevatum diutinum,"""A vasculitis characterised by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks."" [url:http\://www.dermnetnz.org/vascular/erythema-elevatum-diutinum.html]",['DO_rare_slim'],"['GARD:8653', 'ICD10CM:L95.1', 'MESH:C535509', 'ORDO:90000', 'SNOMEDCT_US_2022_09_01:201300002', 'UMLS_CUI:C0263398']",['DOID:865']
1269,0060569,hypertrichotic osteochondrodysplasia Cantu type,"""An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly."" [url:https\://en.wikipedia.org/wiki/Cant%C3%BA_syndrome, url:https\://ghr.nlm.nih.gov/condition/cantu-syndrome]",['DO_rare_slim'],"['GARD:8585', 'MESH:C535572', 'OMIM:239850']",['DOID:2256']
1270,0060570,cardiac tuberculosis,"""A tuberculosis located in the heart."" [url:https\://pubmed.ncbi.nlm.nih.gov/28814447/]",['DO_infectious_disease_slim'],['MESH:D014381'],['DOID:399']
1271,0060571,Ritscher-Schinzel syndrome 1,"""A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24065355]",['DO_rare_slim'],"['OMIM:220210', 'ORDO:7']",['DOID:0060565']
1272,0060572,Ritscher-Schinzel syndrome 2,"""A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24916641]",['DO_rare_slim'],"['OMIM:300963', 'ORDO:7']",['DOID:0060565']
1273,0060573,von Willebrand's disease 1,"""A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16889557, url:https\://www.ncbi.nlm.nih.gov/pubmed/8456432]",['NCIthesaurus'],"['ICD10CM:D68.01', 'MESH:D056725', 'NCI:C131685', 'OMIM:193400', 'SNOMEDCT_US_2022_09_01:128106003', 'UMLS_CUI:C1264039']",['DOID:12531']
1274,0060574,von Willebrand's disease 2,"""A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20409624]",['DO_rare_slim'],"['ICD10CM:D68.02', 'MESH:D056728', 'OMIM:613554', 'ORDO:166081', 'SNOMEDCT_US_2022_09_01:128107007', 'UMLS_CUI:C1264040']",['DOID:12531']
1288,0060589,Yunis-Varon syndrome,"""A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23623387]",['DO_rare_slim'],"['GARD:331', 'MESH:C536719', 'OMIM:216340', 'UMLS_CUI:C1857663']",['DOID:225']
1289,0060590,XFE progeroid syndrome,"""A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17183314]",['DO_rare_slim'],"['GARD:10628', 'MESH:C567043', 'OMIM:610965']",['DOID:0081332']
1290,0060591,WHIM syndrome,"""An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22."" [url:https\://en.wikipedia.org/wiki/WHIM_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/10767001]",['DO_rare_slim'],"['GARD:9297', 'MESH:C536697', 'NCI:C176819', 'OMIM:193670', 'SNOMEDCT_US_2022_09_01:234571003', 'UMLS_CUI:C0472817']",['DOID:612']
1291,0060592,B-cell adult acute lymphocytic leukemia,"""An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9143]","['DO_cancer_slim', 'NCIthesaurus']",['NCI:C9143'],['DOID:5604']
1292,0060597,"atypical chronic myeloid leukemia, BCR-ABL1 negative","""A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C3519, url:https\://www.ncbi.nlm.nih.gov/pubmed/29226717]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['ICD10CM:C92.2', 'ICD9CM:205.2', 'ICDO:9876/3', 'MESH:D054438', 'NCI:C3519', 'ORDO:98824', 'SNOMEDCT_US_2022_09_01:128826001', 'SNOMEDCT_US_2022_12_31:74326002', 'UMLS_CUI:C1292772']",['DOID:4972']
1293,0060599,Nance-Horan syndrome,"""A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies."" [url:https\://en.wikipedia.org/wiki/Nance-Horan_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/2246772, url:https\://www.ncbi.nlm.nih.gov/pubmed/6467651]",['DO_rare_slim'],"['GARD:7161', 'MESH:C538336', 'OMIM:302350', 'ORDO:627', 'SNOMEDCT_US_2022_09_01:445257004', 'UMLS_CUI:C0796085']",['DOID:225']
1294,0060601,alpha-2-plasmin inhibitor deficiency,"""A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11472338, url:https\://www.ncbi.nlm.nih.gov/pubmed/156196]",['DO_rare_slim'],"['ICD10CM:D68.8', 'OMIM:262850', 'ORDO:79']",['DOID:2213']
1299,0060608,microcephalic osteodysplastic primordial dwarfism type I,"""A microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2."" [url:http\://omim.org/entry/210710, url:https\://www.ncbi.nlm.nih.gov/pubmed/22302400]",['DO_rare_slim'],"['GARD:5120', 'ICD10CM:Q87.1', 'MESH:C537577', 'OMIM:210710', 'ORDO:2636']",['DOID:2256']
1300,0060609,microcephalic osteodysplastic primordial dwarfism type II,"""A microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly."" [url:http\://omim.org/entry/210720, url:https\://www.ncbi.nlm.nih.gov/pubmed/7551160]",['DO_rare_slim'],"['ICD10CM:Q87.1', 'MESH:C565898', 'OMIM:210720', 'ORDO:2637']",['DOID:2256']
1301,0060610,megacystis-microcolon-intestinal hypoperistalsis syndrome,"""A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis."" [url:https\://en.wikipedia.org/wiki/Berdon_syndrome, url:https\://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/21792650, url:https\://www.ncbi.nlm.nih.gov/pubmed/25407000]","['DO_rare_slim', 'NCIthesaurus']","['MESH:C536138', 'NCI:C98982', 'OMIM:155310', 'ORDO:2241', 'SNOMEDCT_US_2022_09_01:253781004', 'UMLS_CUI:C1608393']",['DOID:225']
1302,0060611,abdominal obesity-metabolic syndrome,"""A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease."" [url:https\://pubmed.ncbi.nlm.nih.gov/17167477/]",['DO_rare_slim'],"['GARD:9226', 'MESH:C535554', 'OMIM:PS605552']",['DOID:225']
1304,0060613,X-linked cleft palate with or without ankyloglossia,"""A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14729838]",['DO_rare_slim'],"['OMIM:303400', 'ORDO:324601']",['DOID:674']
1305,0060614,ulnar-mammary syndrome,"""A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8595424, url:https\://www.ncbi.nlm.nih.gov/pubmed/8923944]",['DO_rare_slim'],"['GARD:118', 'MESH:C536937', 'OMIM:181450', 'ORDO:3138', 'SNOMEDCT_US_2022_09_01:700211007', 'UMLS_CUI:C1866994']",['DOID:225']
1306,0060638,neonatal diabetes mellitus with congenital hypothyroidism,"""A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16715098]",['DO_rare_slim'],"['OMIM:610199', 'ORDO:79118']",['DOID:11717']
1307,0060639,permanent neonatal diabetes mellitus,"""A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17213273]",['DO_rare_slim'],"['GARD:10457', 'OMIM:606176']",['DOID:11717']
1308,0060640,ethylmalonic encephalopathy,"""A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13."" [url:https\://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy, url:https\://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/20528888]",['DO_rare_slim'],"['GARD:2198', 'MESH:C535737', 'OMIM:602473', 'ORDO:51188', 'SNOMEDCT_US_2022_09_01:723307008', 'UMLS_CUI:C1865349']",['DOID:700']
1309,0060641,endocrine-cerebro-osteodysplasia syndrome,"""A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19185282, url:https\://www.ncbi.nlm.nih.gov/pubmed/24853502]",['DO_rare_slim'],"['ICD10CM:Q87.8', 'OMIM:612651', 'ORDO:199332']",['DOID:225']
1310,0060642,recessive dystrophic epidermolysis bullosa,"""An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21."" [url:https\://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa, url:https\://www.ncbi.nlm.nih.gov/pubmed/3307723, url:https\://www.ncbi.nlm.nih.gov/pubmed/8513326]",['DO_rare_slim'],"['ICD10CM:Q81.2', 'OMIM:226600', 'ORDO:79408']",['DOID:4959']
1311,0060643,primary sclerosing cholangitis,"""A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7877651]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1280', 'ICD10CM:K83.01', 'MESH:D015209', 'NCI:C4828', 'OMIM:613806', 'ORDO:171', 'SNOMEDCT_US_2022_09_01:4032000', 'UMLS_CUI:C0566602']",['DOID:14268']
1312,0060644,chondrodysplasia-pseudohermaphroditism syndrome,"""A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1342874]",['DO_rare_slim'],"['MESH:C536123', 'OMIM:600092', 'ORDO:1422', 'SNOMEDCT_US_2022_09_01:720851007', 'UMLS_CUI:C1838654']",['DOID:225']
1313,0060645,chronic recurrent multifocal osteomyelitis,"""An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine."" [url:https\://en.wikipedia.org/wiki/Chronic_recurrent_multifocal_osteomyelitis, url:https\://www.ncbi.nlm.nih.gov/pubmed/11973628, url:https\://www.ncbi.nlm.nih.gov/pubmed/4403064]","['DO_infectious_disease_slim', 'DO_rare_slim']","['ICD10CM:M86.3', 'MESH:C535456', 'OMIM:259680', 'ORDO:324964']",['DOID:1019']
1314,0060646,congenital chylothorax,"""A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life."" [url:https\://en.wikipedia.org/wiki/Chylothorax, url:https\://www.ncbi.nlm.nih.gov/pubmed/416049]",['DO_rare_slim'],"['OMIM:603523', 'ORDO:264688']",['DOID:1532']
1315,0060647,fetal encasement syndrome,"""A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20961246]",['DO_rare_slim'],"['OMIM:613630', 'ORDO:465824']",['DOID:225']
1316,0060648,anterior segment dysgenesis,"""An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye."" [url:https\://rarediseases.info.nih.gov/diseases/10025/anterior-segment-dysgenesis, url:https\://www.ncbi.nlm.nih.gov/pubmed/17914436, url:https\://www.ncbi.nlm.nih.gov/pubmed/30242500]",['DO_rare_slim'],"['GARD:10025', 'ICD10CM:Q13.8', 'OMIM:PS107250', 'ORDO:88632']",['DOID:5614']
1318,0060650,dicarboxylic aminoaciduria,"""An amino acid metabolic disorder that is characterised by an excess urinary excretion of aspartate and glutamate acidic amino acids."" [url:https\://pubmed.ncbi.nlm.nih.gov/18200002/]",['DO_rare_slim'],"['GARD:1855', 'MESH:C536171', 'OMIM:222730', 'ORDO:2195', 'SNOMEDCT_US_2022_09_01:716747007', 'UMLS_CUI:C1857253']",['DOID:9252']
1319,0060651,MYH-9 related disease,"""A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract."" [url:https\://ghr.nlm.nih.gov/condition/myh9-related-disorder, url:https\://www.ncbi.nlm.nih.gov/pubmed/21567368]",['DO_rare_slim'],"['ICD10CM:D69.4', 'OMIM:155100', 'ORDO:182050']",['DOID:2218']
1320,0060652,familial erythrocytosis 1,"""A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9292543]",['DO_rare_slim'],"['ICD10CM:D75.0', 'OMIM:133100', 'ORDO:90042']",['DOID:10780']
1321,0060653,lethal congenital contracture syndrome 3,"""A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17701898]",['DO_rare_slim'],['ORDO:137783'],['DOID:0060558']
1322,0060654,lethal congenital contracture syndrome 4,"""A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22610851]",['DO_rare_slim'],['GARD:12645'],['DOID:0060558']
1323,0060655,autosomal recessive congenital ichthyosis,"""An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization."" [url:https\://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance, url:https\://www.ncbi.nlm.nih.gov/books/NBK1420/, url:https\://www.ncbi.nlm.nih.gov/pubmed/20643494]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:Q80.2', 'MESH:D017490', 'NCI:C84805', 'OMIM:PS242300', 'ORDO:281097', 'SNOMEDCT_US_2022_09_01:12215009', 'UMLS_CUI:C0079154']",['DOID:1697']
1324,0060656,autosomal recessive congenital ichthyosis 1,"""An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7824952]",['DO_rare_slim'],"['GARD:3170', 'ICD10CM:Q80.2', 'OMIM:242300', 'ORDO:100976', 'ORDO:281122', 'ORDO:313']",['DOID:0060655']
1325,0060668,anencephaly,"""A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp."" [url:https\://en.wikipedia.org/wiki/Anencephaly, url:https\://ghr.nlm.nih.gov/condition/anencephaly]",['DO_rare_slim'],"['GARD:5808', 'ICD10CM:Q00.0', 'MESH:D000757', 'OMIM:206500', 'ORDO:1048']",['DOID:2490']
1327,0060670,cerebral cavernous malformation 2,"""A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14624391]",['DO_rare_slim'],"['ICD10CM:Q28.3', 'OMIM:603284', 'ORDO:221061']",['DOID:0060669']
1328,0060671,cerebral cavernous malformation 3,"""A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15543491]",['DO_rare_slim'],"['ICD10CM:Q28.3', 'OMIM:603285', 'ORDO:221061']",['DOID:0060669']
1330,0060673,Peters anomaly,"""A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11403040, url:https\://www.ncbi.nlm.nih.gov/pubmed/12614756, url:https\://www.ncbi.nlm.nih.gov/pubmed/8162071]",['DO_rare_slim'],"['GARD:7377', 'ICD10CM:Q13.4', 'MESH:C537884', 'OMIM:604229', 'ORDO:708']",['DOID:10124']
1331,0060674,catecholaminergic polymorphic ventricular tachycardia,"""A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK1289, url:https\://www.ncbi.nlm.nih.gov/pubmed/17875969]",['DO_rare_slim'],"['ICD10CM:I47.2', 'OMIM:PS604772', 'ORDO:3286']",['DOID:10273']
1338,0060681,autosomal dominant nocturnal frontal lobe epilepsy,"""A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7895015]",['DO_rare_slim'],"['GARD:11918', 'MESH:C579932', 'OMIM:PS600513', 'ORDO:98784']",['DOID:3331']
1339,0060682,autosomal dominant nocturnal frontal lobe epilepsy 1,"""An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7550350]",['DO_rare_slim'],['OMIM:600513'],['DOID:0060681']
1340,0060683,autosomal dominant nocturnal frontal lobe epilepsy 2,"""An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9758605]",['DO_rare_slim'],['OMIM:603204'],['DOID:0060681']
1341,0060684,autosomal dominant nocturnal frontal lobe epilepsy 3,"""An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11062464]",['DO_rare_slim'],['OMIM:605375'],['DOID:0060681']
1342,0060685,autosomal dominant nocturnal frontal lobe epilepsy 4,"""An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16826524]",['DO_rare_slim'],['OMIM:610353'],['DOID:0060681']
1343,0060686,autosomal dominant nocturnal frontal lobe epilepsy 5,"""An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23086396]",['DO_rare_slim'],['OMIM:615005'],['DOID:0060681']
1344,0060688,arteriovenous malformations of the brain,"""A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7193302]",['DO_rare_slim'],"['ICD10CM:Q28.2', 'MESH:D002538', 'OMIM:108010', 'ORDO:46724', 'UMLS_CUI:C0007772']",['DOID:0060090']
1345,0060689,atrichia with papular lesions,"""An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by  development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10205263]",['DO_rare_slim'],"['ICD10CM:L65.8', 'MESH:C565924', 'OMIM:209500', 'ORDO:86819']",['DOID:987']
1347,0060691,platelet-type bleeding disorder 16,"""A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18065693, url:https\://www.ncbi.nlm.nih.gov/pubmed/21454453, url:https\://www.ncbi.nlm.nih.gov/pubmed/9834222]",['DO_rare_slim'],"['ICD10CM:D69.4', 'OMIM:187800', 'ORDO:140957']",['DOID:2218']
1348,0060692,platelet-type bleeding disorder 8,"""A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11196645, url:https\://www.ncbi.nlm.nih.gov/pubmed/20966167]",['DO_rare_slim'],"['ICD10CM:D69.8', 'OMIM:609821', 'ORDO:36355']",['DOID:2218']
1349,0060693,Brunner Syndrome,"""An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8211186, url:https\://www.ncbi.nlm.nih.gov/pubmed/8503438]",['DO_rare_slim'],"['ICD10CM:E70.8', 'MESH:C563156', 'OMIM:300615', 'ORDO:3057']",['DOID:9252']
1350,0060694,Cayman type cerebellar ataxia,"""An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14556008, url:https\://www.ncbi.nlm.nih.gov/pubmed/8845847]",['DO_rare_slim'],"['ICD10CM:G11.0', 'MESH:C563363', 'OMIM:601238', 'ORDO:94122']",['DOID:0050950']
1351,0060695,hyperekplexia,"""A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12427512, url:https\://www.ncbi.nlm.nih.gov/pubmed/1334371]",['DO_rare_slim'],"['ICD10CM:G25.8', 'MESH:D000071017', 'OMIM:PS149400', 'ORDO:3197']",['DOID:863']
1352,0060696,hyperekplexia 1,"""A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7881416, url:https\://www.ncbi.nlm.nih.gov/pubmed/8298642]",['DO_rare_slim'],"['ICD10CM:G25.8', 'MESH:D000071017', 'OMIM:149400', 'ORDO:3197']",['DOID:0060695']
1353,0060697,hyperekplexia 2,"""A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11929858, url:https\://www.ncbi.nlm.nih.gov/pubmed/21391991]",['DO_rare_slim'],"['ICD10CM:G25.8', 'OMIM:614619', 'ORDO:3197']",['DOID:0060695']
1354,0060698,hyperekplexia 3,"""A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16751771, url:https\://www.ncbi.nlm.nih.gov/pubmed/22700964]",['DO_rare_slim'],"['ICD10CM:G25.8', 'OMIM:614618', 'ORDO:3197']",['DOID:0060695']
1355,0060699,familial hypocalciuric hypercalcemia,"""A hypercalcemia characterized byautosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19809483]",['DO_rare_slim'],"['GARD:10828', 'ICD10CM:E83.5', 'OMIM:PS145980', 'ORDO:405']",['DOID:12678']
1356,0060700,familial hypocalciuric hypercalcemia 1,"""A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7916660]",['DO_rare_slim'],"['ICD10CM:E83.5', 'OMIM:145980', 'ORDO:93372']",['DOID:0060699']
1357,0060701,familial hypocalciuric hypercalcemia 2,"""A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23802516]",['DO_rare_slim'],"['GARD:9758', 'ICD10CM:E83.5', 'OMIM:145981', 'ORDO:101049']",['DOID:0060699']
1358,0060702,familial hypocalciuric hypercalcemia 3,"""A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23222959]",['DO_rare_slim'],"['GARD:2878', 'ICD10CM:E83.5', 'OMIM:600740', 'ORDO:101050']",['DOID:0060699']
1359,0060703,Muenke Syndrome,"""A craniosyntosis characterized by autosomal dominant inheritance,  uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18000976, url:https\://www.ncbi.nlm.nih.gov/pubmed/9042914]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7097', 'MESH:C537369', 'NCI:C84904', 'OMIM:602849', 'ORDO:53271', 'SNOMEDCT_US_2022_09_01:440350001', 'UMLS_CUI:C1864436']",['DOID:2340']
1360,0060704,lymphoproliferative syndrome,"""A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/198660, url:https\://www.ncbi.nlm.nih.gov/pubmed/22197273]",['DO_rare_slim'],"['OMIM:PS308240', 'ORDO:538963']",['DOID:612']
1361,0060705,X-linked lymphoproliferative syndrome 1,"""A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/6283885, url:https\://www.ncbi.nlm.nih.gov/pubmed/9771704]",['DO_rare_slim'],"['GARD:7906', 'ICD10CM:D82.3', 'OMIM:308240']",['DOID:0060704']
1362,0060706,X-linked lymphoproliferative syndrome 2,"""A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17080092]",['DO_rare_slim'],"['GARD:10916', 'ICD10CM:D82.3', 'OMIM:300635']",['DOID:0060704']
1363,0060707,lymphoproliferative syndrome 1,"""A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19425169, url:https\://www.ncbi.nlm.nih.gov/pubmed/21109689]",['DO_rare_slim'],"['ICD10CM:D47.9', 'OMIM:613011']",['DOID:0060704']
1364,0060708,lymphoproliferative syndrome 2,"""A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22197273, url:https\://www.ncbi.nlm.nih.gov/pubmed/22801960]",['DO_rare_slim'],"['ICD10CM:D47.9', 'OMIM:615122']",['DOID:0060704']
1365,0060710,autosomal recessive congenital ichthyosis 2,"""An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11773004, url:https\://www.ncbi.nlm.nih.gov/pubmed/16116617]",['DO_rare_slim'],"['ICD10CM:Q80.2', 'OMIM:242100']",['DOID:0060655']
1366,0060711,autosomal recessive congenital ichthyosis 3,"""An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11398099, url:https\://www.ncbi.nlm.nih.gov/pubmed/11773004]",['DO_rare_slim'],"['ICD10CM:Q80.2', 'OMIM:606545']",['DOID:0060655']
1367,0060712,autosomal recessive congenital ichthyosis 4A,"""An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10094194, url:https\://www.ncbi.nlm.nih.gov/pubmed/20672373]",['DO_rare_slim'],"['ICD10CM:Q80.2', 'OMIM:601277']",['DOID:0060655']
1368,0060713,autosomal recessive congenital ichthyosis 4B,"""An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35."" [url:https\://ghr.nlm.nih.gov/condition/harlequin-ichthyosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/21339420]",['DO_rare_slim'],"['ICD10CM:Q80.4', 'OMIM:242500', 'ORDO:457']",['DOID:0060655']
1369,0060714,autosomal recessive congenital ichthyosis 5,"""An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10712223, url:https\://www.ncbi.nlm.nih.gov/pubmed/16436457]",['DO_rare_slim'],"['ICD10CM:Q80.2', 'OMIM:604777']",['DOID:0060655']
1370,0060715,autosomal recessive congenital ichthyosis 6,"""An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16436457, url:https\://www.ncbi.nlm.nih.gov/pubmed/17557927]",['DO_rare_slim'],"['ICD10CM:Q80.2', 'OMIM:612281']",['DOID:0060655']
1371,0060716,autosomal recessive congenital ichthyosis 7,"""An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16117785]",['DO_rare_slim'],"['ICD10CM:Q80.2', 'OMIM:615022']",['DOID:0060655']
1372,0060717,autosomal recessive congenital ichthyosis 8,"""An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21439540]",['DO_rare_slim'],"['ICD10CM:Q80.2', 'OMIM:613943']",['DOID:0060655']
1373,0060718,autosomal recessive congenital ichthyosis 9,"""An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21093221, url:https\://www.ncbi.nlm.nih.gov/pubmed/23754960]",['DO_rare_slim'],"['ICD10CM:Q80.2', 'OMIM:615023']",['DOID:0060655']
1374,0060719,autosomal recessive congenital ichthyosis 10,"""An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22246504]",['DO_rare_slim'],"['ICD10CM:Q80.2', 'OMIM:615024']",['DOID:0060655']
1375,0060720,autosomal recessive congenital ichthyosis 11,"""An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17273967, url:https\://www.ncbi.nlm.nih.gov/pubmed/18843291, url:https\://www.ncbi.nlm.nih.gov/pubmed/9450882]",['DO_rare_slim'],"['ICD10CM:Q80.8', 'OMIM:602400']",['DOID:0060655']
1376,0060728,NGLY1-deficiency,"""A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24651605, url:https\://www.ncbi.nlm.nih.gov/pubmed/27388694]",['DO_rare_slim'],"['ICD10CM:E77.8', 'MESH:C000626124', 'OMIM:615273', 'ORDO:404454']",['DOID:2978']
1377,0060730,torsion dystonia 1,"""A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11912106, url:https\://www.ncbi.nlm.nih.gov/pubmed/9288096]",['DO_rare_slim'],"['ICD10CM:G24.1', 'OMIM:128100', 'ORDO:256']",['DOID:0050835']
1378,0060731,congenital central hypoventilation syndrome,"""An autonomic nervous system disease characterized by reduced responsiveness of the  respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11840487, url:https\://www.ncbi.nlm.nih.gov/pubmed/12640453, url:https\://www.ncbi.nlm.nih.gov/pubmed/8135282, url:https\://www.ncbi.nlm.nih.gov/pubmed/8696331]",['DO_rare_slim'],"['GARD:8535', 'ICD10CM:G47.3', 'MESH:C536209', 'OMIM:209880', 'ORDO:661']",['DOID:11465']
1379,0060732,chromosome 9p deletion syndrome,"""A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18452192, url:https\://www.ncbi.nlm.nih.gov/pubmed/4541805, url:https\://www.ncbi.nlm.nih.gov/pubmed/6985017]",['DO_rare_slim'],"['ICD10CM:Q93.5', 'MESH:C538024', 'OMIM:158170', 'ORDO:261112']",['DOID:0060388']
1380,0060733,junctional epidermolysis bullosa with pyloric atresia,"""A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16473856, url:https\://www.ncbi.nlm.nih.gov/pubmed/7545057, url:https\://www.ncbi.nlm.nih.gov/pubmed/9185503]",['DO_rare_slim'],"['ICD10CM:Q81.8', 'OMIM:226730', 'ORDO:79403']",['DOID:3209']
1381,0060735,epidermolysis bullosa simplex Dowling-Meara type,"""An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK1369/, url:https\://www.ncbi.nlm.nih.gov/pubmed/1372711, url:https\://www.ncbi.nlm.nih.gov/pubmed/1717157, url:https\://www.ncbi.nlm.nih.gov/pubmed/18374450]",['DO_rare_slim'],"['ICD10CM:Q81.0', 'OMIM:131760', 'ORDO:79396']",['DOID:4644']
1382,0060736,epidermolysis bullosa simplex Ogna type,"""An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11851880]",['DO_rare_slim'],"['ICD10CM:Q81.0', 'OMIM:131950', 'ORDO:79401']",['DOID:4644']
1383,0060737,junctional epidermolysis bullosa Herlitz type,"""A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18374450, url:https\://www.ncbi.nlm.nih.gov/pubmed/8012393, url:https\://www.ncbi.nlm.nih.gov/pubmed/8586427]",['DO_rare_slim'],"['ICD10CM:Q81.1', 'OMIM:226700', 'ORDO:79404']",['DOID:3209']
1384,0060738,junctional epidermolysis bullosa non-Herlitz type,"""A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10792571, url:https\://www.ncbi.nlm.nih.gov/pubmed/11810295, url:https\://www.ncbi.nlm.nih.gov/pubmed/18374450, url:https\://www.ncbi.nlm.nih.gov/pubmed/7550320, url:https\://www.ncbi.nlm.nih.gov/pubmed/7706760]",['DO_rare_slim'],"['ICD10CM:Q81.8', 'OMIM:226650', 'ORDO:79402', 'ORDO:89840']",['DOID:3209']
1385,0060739,hand-foot-genital syndrome,"""A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/5450271, url:https\://www.ncbi.nlm.nih.gov/pubmed/9020844]",['DO_rare_slim'],"['GARD:2594', 'ICD10CM:Q51.2', 'OMIM:140000', 'ORDO:2438']",['DOID:225']
1386,0060740,methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency,"""A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1975493, url:https\://www.ncbi.nlm.nih.gov/pubmed/1977311]",['DO_rare_slim'],"['ICD10CM:E71.1', 'MESH:C565390', 'OMIM:251000', 'ORDO:27']",['DOID:14749']
1387,0060741,methylmalonic acidemia due to transcobalamin receptor defect,"""A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20524213]",['DO_rare_slim'],"['ICD10CM:E71.1', 'OMIM:613646', 'ORDO:280183']",['DOID:14749']
1388,0060742,methylmalonic acidemia cblA type,"""A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12438653, url:https\://www.ncbi.nlm.nih.gov/pubmed/5686220]",['DO_rare_slim'],"['ICD10CM:E71.1', 'OMIM:251100', 'ORDO:79310']",['DOID:14749']
1389,0060743,methylmalonic acidemia cblB type,"""A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12471062, url:https\://www.ncbi.nlm.nih.gov/pubmed/7213387]",['DO_rare_slim'],"['ICD10CM:E71.1', 'OMIM:251110', 'ORDO:79311']",['DOID:14749']
1390,0060744,Pendred Syndrome,"""A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9398842]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4271', 'ICD10CM:E07.1', 'MESH:C536648', 'NCI:C121745', 'OMIM:274600', 'ORDO:705', 'SNOMEDCT_US_2022_09_01:70348004', 'UMLS_CUI:C0271829']",['DOID:225']
1391,0060745,Doyne honeycomb retinal dystrophy,"""A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10369267, url:https\://www.ncbi.nlm.nih.gov/pubmed/11384588]",['DO_rare_slim'],"['GARD:1912', 'ICD10CM:H35.5', 'MESH:C535602', 'OMIM:126600', 'ORDO:75376']",['DOID:2569']
1392,0060746,basal laminar drusen,"""A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18252232, url:https\://www.ncbi.nlm.nih.gov/pubmed/5448127]",['DO_rare_slim'],"['ICD10CM:H35.5', 'MESH:C563034', 'OMIM:126700', 'ORDO:75376']",['DOID:2569']
1393,0060747,Duane-radial ray syndrome,"""A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12393809, url:https\://www.ncbi.nlm.nih.gov/pubmed/12843316, url:https\://www.ncbi.nlm.nih.gov/pubmed/8882787]",['DO_rare_slim'],"['GARD:9182', 'ICD10CM:Q87.8', 'OMIM:607323', 'ORDO:93293']",['DOID:225']
1394,0060748,familial temporal lobe epilepsy 1,"""A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10851389, url:https\://www.ncbi.nlm.nih.gov/pubmed/12205652, url:https\://www.ncbi.nlm.nih.gov/pubmed/15079010]",['DO_rare_slim'],"['OMIM:600512', 'ORDO:101046']",['DOID:3328']
1395,0060749,familial temporal lobe epilepsy 6,"""A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24021842]",['DO_rare_slim'],"['OMIM:615697', 'ORDO:163717']",['DOID:3328']
1396,0060750,familial temporal lobe epilepsy 3,"""A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17377072]",['DO_rare_slim'],"['OMIM:611630', 'ORDO:163717']",['DOID:3328']
1397,0060751,familial temporal lobe epilepsy 7,"""A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26046367]",['DO_rare_slim'],"['OMIM:616436', 'ORDO:101046']",['DOID:3328']
1398,0060752,familial temporal lobe epilepsy 5,"""A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21922598]",['DO_rare_slim'],"['OMIM:614417', 'ORDO:163717']",['DOID:3328']
1399,0060753,familial temporal lobe epilepsy 4,"""A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17460155, url:https\://www.ncbi.nlm.nih.gov/pubmed/18332351]",['DO_rare_slim'],"['OMIM:611631', 'ORDO:98819']",['DOID:3328']
1400,0060754,familial temporal lobe epilepsy 8,"""A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25691535]",['DO_rare_slim'],"['OMIM:616461', 'ORDO:101046']",['DOID:3328']
1401,0060755,familial temporal lobe epilepsy 2,"""A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12011300, url:https\://www.ncbi.nlm.nih.gov/pubmed/15342703]",['DO_rare_slim'],"['OMIM:608096', 'ORDO:98819']",['DOID:3328']
1402,0060756,sclerosteosis 1,"""A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11179006]",['DO_rare_slim'],"['ICD10CM:M85.2', 'OMIM:269500', 'ORDO:3152']",['DOID:0060251']
1403,0060757,sclerosteosis 2,"""A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21471202]",['DO_rare_slim'],"['ICD10CM:M85.2', 'OMIM:614305', 'ORDO:3152']",['DOID:0060251']
1404,0060758,immunodeficiency with hyper-IgM type 2,"""A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11007475]",['DO_rare_slim'],"['ICD10CM:D80.5', 'OMIM:605258', 'ORDO:101089', 'ORDO:183666']",['DOID:0080544']
1405,0060759,immunodeficiency with hyper IgM type 5,"""A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12958596]",['DO_rare_slim'],"['ICD10CM:D80.5', 'OMIM:608106', 'ORDO:101092', 'ORDO:183666']",['DOID:0080544']
1406,0060760,immunodeficiency with hyper-IgM type 4,"""A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12840068]",['DO_rare_slim'],"['ICD10CM:D80.5', 'OMIM:608184', 'ORDO:101091', 'ORDO:183666']",['DOID:0080544']
1408,0060762,restrictive dermopathy,"""A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15317753, url:https\://www.ncbi.nlm.nih.gov/pubmed/20101687]",['DO_rare_slim'],"['GARD:1516', 'MESH:C536920', 'OMIM:PS275210', 'ORDO:1662', 'SNOMEDCT_US_2023_02_28:400128006', 'UMLS_CUI:C0406585']",['DOID:37']
1409,0060763,X-linked juvenile retinoschisis 1,"""A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17172462, url:https\://www.ncbi.nlm.nih.gov/pubmed/9326935]",['DO_rare_slim'],"['ICD10CM:Q14.1', 'OMIM:312700', 'ORDO:792']",['DOID:8465']
1410,0060764,autosomal recessive Robinow syndrome,"""A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10932186, url:https\://www.ncbi.nlm.nih.gov/pubmed/10932187]",['DO_rare_slim'],"['OMIM:268310', 'ORDO:1507']",['DOID:0060254']
1411,0060765,autosomal dominant Robinow syndrome 2,"""A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25817014, url:https\://www.ncbi.nlm.nih.gov/pubmed/26924530]",['DO_rare_slim'],"['OMIM:616331', 'ORDO:3107']",['DOID:0060254']
1412,0060766,autosomal dominant Robinow syndrome 1,"""A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19918918, url:https\://www.ncbi.nlm.nih.gov/pubmed/24716670]",['DO_rare_slim'],"['OMIM:180700', 'ORDO:3107']",['DOID:0060254']
1413,0060767,autosomal dominant Robinow syndrome 3,"""A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26924530]",['DO_rare_slim'],"['OMIM:616894', 'ORDO:3107', 'ORDO:97360']",['DOID:0060254']
1414,0060768,Smith-Magenis syndrome,"""A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK1310/, url:https\://www.ncbi.nlm.nih.gov/pubmed/16845274, url:https\://www.ncbi.nlm.nih.gov/pubmed/21844811, url:https\://www.ncbi.nlm.nih.gov/pubmed/6745947]",['DO_rare_slim'],"['GARD:8197', 'ICD10CM:Q93.5', 'MESH:D058496', 'OMIM:182290', 'ORDO:819']",['DOID:0060388']
1415,0060769,"T-cell immunodeficiency, congenital alopecia, and nail dystrophy","""A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12."" [url:https\://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy, url:https\://www.ncbi.nlm.nih.gov/pubmed/10206641, url:https\://www.ncbi.nlm.nih.gov/pubmed/8911612]",['DO_rare_slim'],"['ICD10CM:D82.8', 'MESH:C536781', 'OMIM:601705', 'ORDO:169095']",['DOID:627']
1416,0060770,dextro-looped transposition of the great arteries,"""A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11799476]",['DO_rare_slim'],"['ICD10CM:Q20.3', 'OMIM:608808', 'ORDO:860']",['DOID:1682']
1418,0060773,cleft lip-palate-ectodermal dysplasia syndrome,"""A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/3035184, url:https\://www.ncbi.nlm.nih.gov/pubmed/9758630]",['DO_rare_slim'],"['GARD:375', 'OMIM:225060', 'ORDO:3253']",['DOID:225']
1420,0060775,microvillus inclusion disease,"""A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18724368]",['DO_rare_slim'],"['GARD:7039', 'ICD10CM:P78.3', 'MESH:C537470', 'OMIM:251850', 'ORDO:2290']",['DOID:0060774']
1421,0060776,congenital diarrhea 5 with tufting enteropathy,"""A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18572020, url:https\://www.ncbi.nlm.nih.gov/pubmed/23462293]",['DO_rare_slim'],"['ICD10CM:P78.3', 'OMIM:613217', 'ORDO:92050']",['DOID:0060774']
1422,0060777,congenital secretory sodium diarrhea 8,"""A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26358773]",['DO_rare_slim'],"['ICD10CM:P78.3', 'OMIM:616868', 'ORDO:103908']",['DOID:0050129']
1423,0060778,congenital diarrhea 7 with exudative enteropathy,"""A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the DGAT1 gene on chromosome 8q24.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23114594]",['DO_rare_slim'],"['ICD10CM:P78.3', 'OMIM:615863', 'ORDO:329242']",['DOID:0060774']
1424,0060779,congenital malabsorptive diarrhea 4,"""A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16855267]",['DO_rare_slim'],"['ICD10CM:P78.3', 'OMIM:610370', 'ORDO:83620']",['DOID:0060774']
1425,0060780,congenital diarrhea 6,"""A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22436048]",['DO_rare_slim'],"['ICD10CM:P78.3', 'OMIM:614616', 'ORDO:314373']",['DOID:0060774']
1426,0060781,congenital secretory sodium diarrhea 3,"""A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19185281]",['DO_rare_slim'],"['ICD10CM:P78.3', 'OMIM:270420', 'ORDO:103908']",['DOID:0050129']
1427,0060782,EEC syndrome,"""A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate)."" [url:https\://rarediseases.info.nih.gov/diseases/2076/eec-syndrome]",['DO_rare_slim'],"['MESH:C536189', 'NCI:C148261', 'ORDO:1896', 'SNOMEDCT_US_2022_09_01:39788007', 'UMLS_CUI:C0406704']",['DOID:225']
1428,0060783,"ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3","""An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10535733, url:https\://www.ncbi.nlm.nih.gov/pubmed/8737655]",['DO_rare_slim'],"['MESH:C536189', 'NCI:C148261', 'OMIM:604292', 'ORDO:1896', 'SNOMEDCT_US_2022_09_01:39788007', 'UMLS_CUI:C0406704']",['DOID:0060782']
1429,0060784,"ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1","""An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1424230, url:https\://www.ncbi.nlm.nih.gov/pubmed/5454938]",['DO_rare_slim'],"['MESH:C536189', 'NCI:C148261', 'OMIM:129900', 'ORDO:1896', 'SNOMEDCT_US_2022_09_01:39788007', 'UMLS_CUI:C0406704']",['DOID:0060782']
1430,0060785,adult-onset autosomal dominant demyelinating leukodystrophy,"""A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16951681, url:https\://www.ncbi.nlm.nih.gov/pubmed/19151023]",['DO_rare_slim'],"['GARD:10587', 'OMIM:169500', 'ORDO:99027', 'SNOMEDCT_US_2022_09_01:448054001', 'UMLS_CUI:C3164344']",['DOID:10579']
1432,0060787,hypomyelinating leukodystrophy 2,"""A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15192806, url:https\://www.ncbi.nlm.nih.gov/pubmed/18094336]",['DO_rare_slim'],"['ICD10CM:E75.2', 'OMIM:608804', 'ORDO:280282']",['DOID:0060786']
1434,0060789,hypomyelinating leukodystrophy 4,"""A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18571143]",['DO_rare_slim'],"['ICD10CM:E75.2', 'OMIM:612233', 'ORDO:280288']",['DOID:0060786']
1435,0060790,hypomyelinating leukodystrophy 3,"""A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21092922, url:https\://www.ncbi.nlm.nih.gov/pubmed/24958424]",['DO_rare_slim'],"['ICD10CM:E75.2', 'OMIM:260600', 'ORDO:280293']",['DOID:0060786']
1436,0060791,hypomyelinating leukodystrophy 9,"""A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24777941]",['DO_rare_slim'],"['ICD10CM:E75.2', 'OMIM:616140', 'ORDO:438114']",['DOID:0060786']
1438,0060793,hypomyelinating leukodystrophy 5,"""A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16951682, url:https\://www.ncbi.nlm.nih.gov/pubmed/17683097]",['DO_rare_slim'],"['ICD10CM:G37.8', 'OMIM:610532', 'ORDO:85163']",['DOID:0060786']
1439,0060794,hypomyelinating leukodystrophy 7,"""A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12605447, url:https\://www.ncbi.nlm.nih.gov/pubmed/21855841]",['DO_rare_slim'],"['ICD10CM:G11.1', 'OMIM:607694', 'ORDO:137639', 'ORDO:447893', 'ORDO:447896', 'ORDO:77295']",['DOID:0060786']
1443,0060798,hypomyelinating leukodystrophy 6,"""A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23582646]",['DO_rare_slim'],"['ICD10CM:E75.2', 'OMIM:612438', 'ORDO:139441']",['DOID:0060786']
1444,0060799,syndromic X-linked intellectual disability Lubs type,"""A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28."" [url:https\://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15689435, url:https\://www.ncbi.nlm.nih.gov/pubmed/20425814]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9781', 'MESH:C537723', 'NCI:C126747', 'OMIM:300260', 'ORDO:85281', 'SNOMEDCT_US_2022_09_01:702816000', 'UMLS_CUI:C1846058']",['DOID:0060309']
1445,0060800,syndromic X-linked intellectual disability 5,"""A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19377476, url:https\://www.ncbi.nlm.nih.gov/pubmed/23756445]","['DO_rare_slim', 'NCIthesaurus']","['MESH:C535773', 'NCI:C124839', 'OMIM:304340', 'ORDO:1568', 'ORDO:85335', 'SNOMEDCT_US_2022_09_01:719139003', 'UMLS_CUI:C0796254']",['DOID:0060309']
1446,0060801,MEHMO syndrome,"""A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in variation in the chromosome region Xp22.13-p21.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12032729, url:https\://www.ncbi.nlm.nih.gov/pubmed/9781023]",['DO_rare_slim'],"['MESH:C537451', 'OMIM:300148', 'ORDO:85282', 'SNOMEDCT_US_2022_09_01:722037004', 'UMLS_CUI:C1846278']",['DOID:0060309']
1447,0060802,syndromic X-linked intellectual disability Snyder type,"""A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14508504, url:https\://www.ncbi.nlm.nih.gov/pubmed/23696453]",['DO_rare_slim'],"['GARD:5615', 'ICD10CM:Q87.8', 'OMIM:309583', 'ORDO:3063']",['DOID:0060309']
1448,0060803,syndromic X-linked intellectual disability 17,"""A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21744492]",['DO_rare_slim'],"['OMIM:300858', 'ORDO:289483']",['DOID:0060309']
1449,0060804,syndromic X-linked intellectual disability 12,"""A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1357179]",['DO_rare_slim'],"['ICD10CM:Q87.8', 'OMIM:309545', 'ORDO:85290']",['DOID:0060309']
1450,0060805,Prieto syndrome,"""A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in variation in the chromosome region Xp11-q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1673297, url:https\://www.ncbi.nlm.nih.gov/pubmed/3121220]",['DO_rare_slim'],"['OMIM:309610', 'ORDO:2958']",['DOID:0060309']
1451,0060806,syndromic X-linked intellectual disability Hedera type,"""A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11782983, url:https\://www.ncbi.nlm.nih.gov/pubmed/15746149]",['DO_rare_slim'],"['OMIM:300423', 'ORDO:93952']",['DOID:0060309']
1452,0060807,syndromic X-linked intellectual disability Najm type,"""A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19165920, url:https\://www.ncbi.nlm.nih.gov/pubmed/21954287]",['DO_rare_slim'],"['GARD:12669', 'ICD10CM:Q04.3', 'OMIM:300749', 'ORDO:163937']",['DOID:0060309']
1453,0060808,syndromic X-linked intellectual disability 7,"""A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10573017]",['DO_rare_slim'],"['GARD:9156', 'MESH:C537449', 'OMIM:300218', 'ORDO:85274', 'SNOMEDCT_US_2022_09_01:719160009', 'UMLS_CUI:C1846170']",['DOID:0060309']
1454,0060809,syndromic X-linked intellectual disability Claes-Jensen type,"""A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10982473, url:https\://www.ncbi.nlm.nih.gov/pubmed/15586325]",['DO_rare_slim'],"['ICD10CM:Q87.8', 'OMIM:300534', 'ORDO:85279']",['DOID:0060309']
1455,0060810,syndromic X-linked intellectual disability type 10,"""A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10521307, url:https\://www.ncbi.nlm.nih.gov/pubmed/17236142]",['DO_rare_slim'],"['ICD10CM:G25.5', 'OMIM:300438', 'ORDO:85295']",['DOID:0060309']
1456,0060811,syndromic X-linked intellectual disability Turner type,"""A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18252223, url:https\://www.ncbi.nlm.nih.gov/pubmed/7943042]",['DO_rare_slim'],"['ICD10CM:Q87.8', 'OMIM:309590', 'ORDO:3056', 'ORDO:85328']",['DOID:0060309']
1457,0060812,syndromic X-linked intellectual disability Siderius type,"""A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10398231, url:https\://www.ncbi.nlm.nih.gov/pubmed/16199551]",['DO_rare_slim'],"['MESH:C537333', 'OMIM:300263', 'ORDO:85287', 'UMLS_CUI:C1846055']",['DOID:0060309']
1458,0060813,syndromic X-linked intellectual disability Shrimpton type,"""A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10331611, url:https\://www.ncbi.nlm.nih.gov/pubmed/10797443]",['DO_rare_slim'],"['ICD10CM:Q87.8', 'OMIM:300709', 'ORDO:85324']",['DOID:0060309']
1459,0060814,Wilson-Turner syndrome,"""A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature  that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1746601, url:https\://www.ncbi.nlm.nih.gov/pubmed/25644381]",['DO_rare_slim'],"['GARD:5579', 'OMIM:309585', 'ORDO:3459']",['DOID:0060309']
1460,0060815,Miles-Carpenter syndrome,"""A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2018061]",['DO_rare_slim'],"['OMIM:314580', 'ORDO:85283', 'UMLS_CUI:C1839735']",['DOID:0060309']
1461,0060816,corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome,"""A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia,  sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14556245]",['DO_rare_slim'],"['ICD10CM:Q87.8', 'OMIM:300472', 'ORDO:52055']",['DOID:0060309']
1462,0060817,syndromic X-linked intellectual disability 34,"""A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26571461]",['DO_rare_slim'],"['OMIM:300967', 'ORDO:466791']",['DOID:0060309']
1463,0060818,syndromic X-linked intellectual disability Abidi type,"""A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10398233]",['DO_rare_slim'],"['MESH:C535556', 'OMIM:300262', 'ORDO:85273', 'UMLS_CUI:C1846056']",['DOID:0060309']
1465,0060820,syndromic X-linked intellectual disability Nascimento type,"""A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16909393, url:https\://www.ncbi.nlm.nih.gov/pubmed/20412111]",['DO_rare_slim'],"['ICD10CM:Q87.8', 'OMIM:300860', 'ORDO:163956']",['DOID:0060309']
1466,0060821,syndromic X-linked intellectual disability 14,"""A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17704778, url:https\://www.ncbi.nlm.nih.gov/pubmed/22957832]",['DO_rare_slim'],"['MESH:C537724', 'OMIM:300676', 'ORDO:323', 'ORDO:776', 'SNOMEDCT_US_2022_09_01:422437002', 'UMLS_CUI:C0796022']",['DOID:0060309']
1467,0060822,syndromic X-linked intellectual disability Cabezas type,"""A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and  bnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10978355, url:https\://www.ncbi.nlm.nih.gov/pubmed/17236139]",['DO_rare_slim'],"['GARD:13244', 'ICD10CM:Q87.8', 'OMIM:300354', 'ORDO:85293']",['DOID:0060309']
1468,0060823,syndromic X-linked intellectual disability 94,"""A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17989220, url:https\://www.ncbi.nlm.nih.gov/pubmed/19449417, url:https\://www.ncbi.nlm.nih.gov/pubmed/24721225]",['DO_rare_slim'],"['ICD10CM:F72', 'OMIM:300699', 'ORDO:364028']",['DOID:0060309']
1469,0060824,syndromic X-linked intellectual disability Raymond type,"""A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17436253, url:https\://www.ncbi.nlm.nih.gov/pubmed/19377476]",['DO_rare_slim'],"['ICD10CM:Q87.8', 'OMIM:300799', 'ORDO:163953']",['DOID:0060309']
1470,0060825,Christianson syndrome,"""A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18342287, url:https\://www.ncbi.nlm.nih.gov/pubmed/20949524, url:https\://www.ncbi.nlm.nih.gov/pubmed/25044251]",['DO_rare_slim'],"['GARD:10572', 'MESH:C537450', 'OMIM:300243', 'ORDO:85278', 'UMLS_CUI:C1846130']",['DOID:0060309']
1471,0060826,syndromic X-linked intellectual disability Shashi type,"""A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10677307, url:https\://www.ncbi.nlm.nih.gov/pubmed/25256757]",['DO_rare_slim'],"['ICD10CM:Q87.8', 'OMIM:300238', 'ORDO:85286']",['DOID:0060309']
1472,0060827,X-linked intellectual disability-psychosis-macroorchidism syndrome,"""A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10986043, url:https\://www.ncbi.nlm.nih.gov/pubmed/8651288]",['DO_rare_slim'],"['ICD10CM:F71.1', 'OMIM:300055', 'ORDO:3077']",['DOID:0060309']
1473,0060828,X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome,"""A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22814392]",['DO_rare_slim'],"['OMIM:300886', 'ORDO:324410']",['DOID:0060309']
1474,0060830,"deafness-intellectual disability, Martin-Probst type syndrome","""A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11073537]",['DO_rare_slim'],"['ICD10CM:Q87.8', 'OMIM:300519', 'ORDO:85321']",['DOID:0060309']
1475,0060831,Griscelli syndrome,"""An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12452176, url:https\://www.ncbi.nlm.nih.gov/pubmed/707528]",['DO_rare_slim'],"['GARD:10913', 'ICD10CM:E70.3', 'OMIM:PS214450', 'ORDO:381']",['DOID:16']
1476,0060832,Griscelli syndrome type 1,"""A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12452176, url:https\://www.ncbi.nlm.nih.gov/pubmed/9207796]",['DO_rare_slim'],"['GARD:2566', 'MESH:C537301', 'OMIM:214450', 'ORDO:79476', 'UMLS_CUI:C1859194']",['DOID:0060831']
1477,0060833,Griscelli syndrome type 2,"""A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12452176, url:https\://www.ncbi.nlm.nih.gov/pubmed/707528]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4483', 'MESH:C537302', 'NCI:C111814', 'OMIM:607624', 'ORDO:79477', 'UMLS_CUI:C1868679']",['DOID:0060831']
1478,0060834,Griscelli syndrome type 3,"""A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12148598, url:https\://www.ncbi.nlm.nih.gov/pubmed/12897212]",['DO_rare_slim'],"['GARD:9715', 'MESH:C537303', 'OMIM:609227', 'ORDO:79478', 'UMLS_CUI:C1836573']",['DOID:0060831']
1479,0060835,isolated microphthalmia 6,"""An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15823920, url:https\://www.ncbi.nlm.nih.gov/pubmed/21397065]",['DO_rare_slim'],"['ICD10CM:Q11.0', 'OMIM:613517', 'ORDO:2542']",['DOID:0080637']
1480,0060836,isolated microphthalmia 4,"""An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19129173]",['DO_rare_slim'],"['ICD10CM:Q11.0', 'OMIM:613094', 'ORDO:2542']",['DOID:0080637']
1481,0060837,isolated microphthalmia 5,"""An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17167404, url:https\://www.ncbi.nlm.nih.gov/pubmed/18554571, url:https\://www.ncbi.nlm.nih.gov/pubmed/19753314]",['DO_rare_slim'],"['ICD10CM:Q15.8', 'OMIM:611040', 'ORDO:251279']",['DOID:0080637']
1482,0060838,isolated microphthalmia 7,"""An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19864492]",['DO_rare_slim'],"['ICD10CM:Q11.0', 'OMIM:613704', 'ORDO:2542']",['DOID:0080637']
1483,0060839,isolated microphthalmia 2,"""An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15257456, url:https\://www.ncbi.nlm.nih.gov/pubmed/3378363]",['DO_rare_slim'],"['ICD10CM:Q11.0', 'OMIM:610093', 'ORDO:2542']",['DOID:0080637']
1484,0060840,isolated microphthalmia 1,"""An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9545413]",['DO_rare_slim'],"['ICD10CM:Q11.0', 'OMIM:251600', 'ORDO:2542']",['DOID:0080637']
1485,0060841,isolated microphthalmia 8,"""An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23312594, url:https\://www.ncbi.nlm.nih.gov/pubmed/23591992]",['DO_rare_slim'],"['ICD10CM:Q11.0', 'OMIM:615113', 'ORDO:2542']",['DOID:0080637']
1486,0060842,isolated microphthalmia 3,"""An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14662654, url:https\://www.ncbi.nlm.nih.gov/pubmed/18783408]",['DO_rare_slim'],"['ICD10CM:Q11.0', 'OMIM:611038', 'ORDO:2542']",['DOID:0080637']
1487,0060843,hereditary neuropathy with liability to pressure palsies,"""A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12682341, url:https\://www.ncbi.nlm.nih.gov/pubmed/2540008, url:https\://www.ncbi.nlm.nih.gov/pubmed/8422677]",['DO_rare_slim'],"['MESH:C536965', 'OMIM:162500', 'ORDO:640', 'SNOMEDCT_US_2022_09_01:230558006', 'UMLS_CUI:C0393814']",['DOID:870']
1488,0060844,Norrie disease,"""A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1303235, url:https\://www.ncbi.nlm.nih.gov/pubmed/13998843, url:https\://www.ncbi.nlm.nih.gov/pubmed/7627181]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7224', 'MESH:C537849', 'NCI:C118634', 'OMIM:310600', 'ORDO:649', 'SNOMEDCT_US_2022_09_01:15228007', 'UMLS_CUI:C0266526']",['DOID:225']
1489,0060847,Leri-Weill dyschondrosteosis,"""An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain."" [url:https\://rarediseases.org/rare-diseases/leri-weilldyschondrosteosis/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10713888, url:https\://www.ncbi.nlm.nih.gov/pubmed/21712857, url:https\://www.ncbi.nlm.nih.gov/pubmed/9590292]","['DO_rare_slim', 'NCIthesaurus']","['GARD:3224', 'MESH:C537119', 'NCI:C126560', 'OMIM:127300', 'ORDO:240', 'SNOMEDCT_US_2022_09_01:17818006', 'UMLS_CUI:C0265309']",['DOID:2256']
1490,0060848,developmental and epileptic encephalopathy 9,"""A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22."" [url:https\://pubmed.ncbi.nlm.nih.gov/20830798/, url:https\://www.ncbi.nlm.nih.gov/pubmed/18469813, url:https\://www.ncbi.nlm.nih.gov/pubmed/19752159]",['DO_rare_slim'],"['GARD:10806', 'OMIM:300088', 'ORDO:101039']",['DOID:0112202']
1491,0060849,osteoporosis-pseudoglioma syndrome,"""A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia  that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11719191, url:https\://www.ncbi.nlm.nih.gov/pubmed/20034086, url:https\://www.ncbi.nlm.nih.gov/pubmed/3955877]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4160', 'MESH:C536063', 'NCI:C130998', 'OMIM:259770', 'ORDO:2788', 'SNOMEDCT_US_2022_09_01:254112001', 'UMLS_CUI:C0432252']",['DOID:225']
1492,0060850,annular pancreas,"""A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1860255, url:https\://www.ncbi.nlm.nih.gov/pubmed/677171]","['DO_rare_slim', 'NCIthesaurus']","['GARD:705', 'ICD10CM:Q45.1', 'MESH:C536376', 'NCI:C98813', 'OMIM:167750', 'ORDO:675', 'SNOMEDCT_US_2022_09_01:40315008', 'UMLS_CUI:C0149955']",['DOID:26']
1493,0060851,pemphigus vulgaris,"""A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2217197, url:https\://www.ncbi.nlm.nih.gov/pubmed/4577497]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7355', 'ICD10CM:L10.0', 'MESH:D010392', 'NCI:C34910', 'OMIM:169610', 'ORDO:704', 'SNOMEDCT_US_2022_09_01:49420001', 'UMLS_CUI:C0030809']",['DOID:9182']
1494,0060852,Pierson syndrome,"""A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 on chromosome 3p21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15367484, url:https\://www.ncbi.nlm.nih.gov/pubmed/15372515]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9420', 'MESH:C537185', 'NCI:C128145', 'OMIM:609049', 'ORDO:2670', 'SNOMEDCT_US_2022_09_01:723449004', 'UMLS_CUI:C1836876']",['DOID:225']
1495,0060853,Potocki-Lupski syndrome,"""A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in duplication of a region of chromosome 17p11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10615134, url:https\://www.ncbi.nlm.nih.gov/pubmed/20425816]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10145', 'MESH:C538355', 'NCI:C124846', 'OMIM:610883', 'ORDO:1713', 'SNOMEDCT_US_2022_09_01:734016004', 'UMLS_CUI:C2931246']",['DOID:0060429']
1496,0060854,autosomal recessive pseudohypoaldosteronism type 1,"""A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10202170, url:https\://www.ncbi.nlm.nih.gov/pubmed/10404817, url:https\://www.ncbi.nlm.nih.gov/pubmed/8589714]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4552', 'MESH:D011546', 'NCI:C123251', 'OMIM:264350', 'ORDO:171876', 'ORDO:756', 'SNOMEDCT_US_2022_09_01:43941006', 'UMLS_CUI:C0268436']",['DOID:4479']
1497,0060855,autosomal dominant pseudohypoaldosteronism type 1,"""A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9662404]",['DO_rare_slim'],"['GARD:9145', 'MESH:D011546', 'OMIM:177735', 'ORDO:756', 'UMLS_CUI:C1449843']",['DOID:4479']
1498,0060856,right atrial isomerism,"""A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14648004, url:https\://www.ncbi.nlm.nih.gov/pubmed/20413652]",['DO_rare_slim'],"['ICD10CM:Q20.6', 'OMIM:208530', 'ORDO:97548']",['DOID:0050545']
1499,0060857,septooptic dysplasia,"""A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8696006, url:https\://www.ncbi.nlm.nih.gov/pubmed/9620767]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7627', 'MESH:D025962', 'NCI:C85063', 'OMIM:182230', 'ORDO:3157', 'SNOMEDCT_US_2022_09_01:204073006', 'UMLS_CUI:C0338503']",['DOID:225']
1500,0060858,hypotonia-cystinuria syndrome,"""A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism."" [url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163690, url:https\://www.ncbi.nlm.nih.gov/pubmed/11524703, url:https\://www.ncbi.nlm.nih.gov/pubmed/16385448, url:https\://www.ncbi.nlm.nih.gov/pubmed/18234729]",['DO_rare_slim'],"['ICD10CM:E72.0', 'MESH:C564710', 'OMIM:606407', 'ORDO:163690']",['DOID:225']
1501,0060859,salmonellosis,"""A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has sypmtoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment."" [url:https\://www.cdc.gov/salmonella/general/index.html, url:https\://www.foodsafety.gov/poisoning/causes/bacteriaviruses/salmonella]",['DO_infectious_disease_slim'],"['ICD10CM:A02.0', 'ICD9CM:003.0']",['DOID:0050338']
1502,0060861,microphthalmia with limb anomalies,"""A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21194678, url:https\://www.ncbi.nlm.nih.gov/pubmed/6846395]",['DO_rare_slim'],"['ICD10CM:Q87.2', 'OMIM:206920', 'ORDO:1106']",['DOID:225']
1503,0060862,mal de Meleda,"""A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11285253, url:https\://www.ncbi.nlm.nih.gov/pubmed/9887370]",['DO_rare_slim'],"['ICD10CM:Q82.8', 'OMIM:248300', 'ORDO:87503']",['DOID:3390']
1504,0060863,patterned macular dystrophy,"""A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22466463]",['DO_rare_slim'],"['ICD10CM:H35.5', 'OMIM:PS169150', 'ORDO:99001']",['DOID:4448']
1508,0060867,macrocephaly-autism syndrome,"""A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15805158, url:https\://www.ncbi.nlm.nih.gov/pubmed/1719811]",['DO_rare_slim'],"['MESH:C565342', 'OMIM:605309', 'ORDO:210548']",['DOID:225']
1509,0060868,leukoencephalopathy with vanishing white matter,"""A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood."" [url:https\://medlineplus.gov/genetics/condition/leukoencephalopathy-with-vanishing-white-matter/, url:https\://pubmed.ncbi.nlm.nih.gov/11835386/, url:https\://pubmed.ncbi.nlm.nih.gov/15136673/, url:https\://www.ncbi.nlm.nih.gov/pubmed/11704758]",['DO_rare_slim'],"['GARD:231', 'ICD10CM:E75.2', 'OMIM:PS603896', 'ORDO:135', 'ORDO:157713', 'ORDO:157716', 'ORDO:157719']",['DOID:10579']
1510,0060869,late-onset retinal degeneration,"""A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12944416]",['DO_rare_slim'],"['GARD:4357', 'MESH:C565309', 'OMIM:605670', 'ORDO:67042']",['DOID:8466']
1511,0060870,isolated growth hormone deficiency,"""A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8288694]","['DO_rare_slim', 'NCIthesaurus']","['GARD:12556', 'ICD10CM:E23.0', 'ICD9CM:253.3', 'MESH:D004393', 'NCI:C34555', 'ORDO:631', 'SNOMEDCT_US_2022_09_01:270485009', 'UMLS_CUI:C0013338']",['DOID:9406']
1512,0060871,autosomal dominant keratitis-ichthyosis-deafness syndrome,"""A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11912510, url:https\://www.ncbi.nlm.nih.gov/pubmed/11918723, url:https\://www.ncbi.nlm.nih.gov/pubmed/3579358]",['DO_rare_slim'],"['ICD10CM:Q80.8', 'OMIM:148210', 'ORDO:477']",['DOID:225']
1513,0060872,isolated growth hormone deficiency type II,"""An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15671105, url:https\://www.ncbi.nlm.nih.gov/pubmed/8288694]",['DO_rare_slim'],"['ICD10CM:E23.0', 'MESH:C562704', 'OMIM:173100', 'ORDO:231679']",['DOID:0060870']
1514,0060873,isolated growth hormone deficiency type IA,"""An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16060904, url:https\://www.ncbi.nlm.nih.gov/pubmed/8288694]",['DO_rare_slim'],"['ICD10CM:E23.0', 'OMIM:262400', 'ORDO:231662']",['DOID:0060870']
1515,0060874,isolated growth hormone deficiency type IB,"""An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10678654, url:https\://www.ncbi.nlm.nih.gov/pubmed/8288694, url:https\://www.ncbi.nlm.nih.gov/pubmed/8528260]",['DO_rare_slim'],"['ICD10CM:E23.0', 'OMIM:612781', 'ORDO:231671']",['DOID:0060870']
1516,0060875,isolated growth hormone deficiency type III,"""An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8013627, url:https\://www.ncbi.nlm.nih.gov/pubmed/8288694]",['DO_rare_slim'],"['GARD:3921', 'ICD10CM:E23.0', 'OMIM:307200', 'ORDO:231692']",['DOID:0060870']
1517,0060877,bullous congenital ichthyosiform erythroderma,"""An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/4247927, url:https\://www.ncbi.nlm.nih.gov/pubmed/7524919]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2966', 'ICD10CM:Q80.3', 'MESH:D053560', 'NCI:C84777', 'OMIM:146800', 'ORDO:455', 'SNOMEDCT_US_2022_09_01:254169002', 'UMLS_CUI:C0432306']",['DOID:1697']
1518,0060878,hypoparathyroidism-deafness-renal disease syndrome,"""A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10935639, url:https\://www.ncbi.nlm.nih.gov/pubmed/874665]","['DO_rare_slim', 'NCIthesaurus']","['MESH:C537907', 'NCI:C130983', 'OMIM:146255', 'ORDO:2237', 'SNOMEDCT_US_2022_09_01:724282009', 'UMLS_CUI:C1840333']",['DOID:0060388']
1519,0060879,primary hypomagnesemia,"""A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18818955]",['DO_rare_slim'],"['ICD10CM:E83.4', 'OMIM:PS602014', 'ORDO:34526']",['DOID:896']
1520,0060880,renal hypomagnesemia 3,"""A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10390358, url:https\://www.ncbi.nlm.nih.gov/pubmed/16501001]",['DO_rare_slim'],"['ICD10CM:E83.4', 'OMIM:248250', 'ORDO:31043']",['DOID:0060879']
1521,0060881,renal hypomagnesemia 5 with ocular involvement,"""A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17033971]",['DO_rare_slim'],"['MESH:C536148', 'OMIM:248190', 'ORDO:2196', 'UMLS_CUI:C2931121']",['DOID:0060879']
1522,0060882,renal hypomagnesemia 4,"""A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in variation in the chromosome region 4q25."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12584272, url:https\://www.ncbi.nlm.nih.gov/pubmed/17671655]",['DO_rare_slim'],"['ICD10CM:E83.4', 'OMIM:611718', 'ORDO:34527']",['DOID:0060879']
1523,0060883,intestinal hypomagnesemia 1,"""A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorbtion and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12032568, url:https\://www.ncbi.nlm.nih.gov/pubmed/12032570, url:https\://www.ncbi.nlm.nih.gov/pubmed/18818955]",['DO_rare_slim'],"['ICD10CM:E83.4', 'OMIM:602014', 'ORDO:30924']",['DOID:0060879']
1524,0060884,renal hypomagnesemia 6,"""A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21397062]",['DO_rare_slim'],"['GARD:12155', 'ICD10CM:E83.4', 'OMIM:613882', 'ORDO:34527']",['DOID:0060879']
1525,0060885,renal hypomagnesemia 2,"""A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11062458, url:https\://www.ncbi.nlm.nih.gov/pubmed/3298795]",['DO_rare_slim'],"['GARD:3350', 'ICD10CM:E83.4', 'OMIM:154020', 'ORDO:34528']",['DOID:0060879']
1526,0060886,osteopathia striata with cranial sclerosis,"""An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19079258]",['DO_rare_slim'],"['MESH:C536053', 'OMIM:300373', 'ORDO:2780', 'SNOMEDCT_US_2022_09_01:254129003', 'UMLS_CUI:C0432268']",['DOID:4254']
1527,0060887,ossification of the posterior longitudinal ligament of spine,"""A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27374772]",['DO_rare_slim'],"['GARD:9699', 'OMIM:602475']",['DOID:65']
1528,0060888,transient myeloproliferative syndrome,"""A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome."" [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/792759, url:https\://www.ncbi.nlm.nih.gov/pubmed/6229618]","['DO_cancer_slim', 'DO_rare_slim']","['GARD:12765', 'ICD10CM:D47.7', 'OMIM:159595', 'ORDO:420611']",['DOID:2226']
1529,0060889,prune belly syndrome,"""A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43."" [url:https\://en.wikipedia.org/wiki/Prune_belly_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15912376, url:https\://www.ncbi.nlm.nih.gov/pubmed/22077972]",['DO_rare_slim'],"['GARD:7479', 'ICD10CM:Q79.4', 'MESH:D011535', 'OMIM:100100', 'ORDO:2970']",['DOID:225']
1530,0060890,ectopic Cushing syndrome,"""A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27387249]",['DO_rare_slim'],"['ICD10CM:E24.3', 'ORDO:99889']",['DOID:446']
1531,0060891,Parkinson's disease 19A,"""An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22563501, url:https\://www.ncbi.nlm.nih.gov/pubmed/23211418, url:https\://www.ncbi.nlm.nih.gov/pubmed/26703368]",['DO_rare_slim'],"['ICD10CM:G20', 'OMIM:615528', 'ORDO:391411']",['DOID:0060894']
1532,0060892,late onset Parkinson's disease,"""A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25904081]",['DO_rare_slim'],"['OMIM:168600', 'ORDO:411602']",['DOID:14330']
1534,0060894,early-onset Parkinson's disease,"""A Parkinson's disease characterized by onset of motor symptoms early than typically seen, usually prior to 50 years of age."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25904081]",['DO_rare_slim'],['ORDO:391411'],['DOID:14330']
1540,0060901,lymphoplasmacytic lymphoma,"""A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10632755]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7872', 'ICD10CM:C88.0', 'ICD9CM:273.3', 'ICDO:9671/3', 'MESH:D008258', 'NCI:C115212', 'NCI:C3212', 'NCI:C80307', 'OMIM:153600', 'OMIM:610430', 'ORDO:33226', 'SNOMEDCT_US_2022_09_01:35562000', 'UMLS_CUI:C0024419', 'UMLS_CUI:C2936755']",['DOID:707']
1541,0060902,Norman-Roberts syndrome,"""A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10973257, url:https\://www.ncbi.nlm.nih.gov/pubmed/15083694]",['DO_rare_slim'],"['MESH:C537848', 'OMIM:257320', 'ORDO:89844', 'SNOMEDCT_US_2022_09_01:717977003', 'UMLS_CUI:C0796089']",['DOID:0050453']
1544,0060911,karyomegalic interstitial nephritis,"""An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16678356, url:https\://www.ncbi.nlm.nih.gov/pubmed/22772369]",['DO_rare_slim'],"['GARD:11003', 'ICD10CM:N11.8', 'OMIM:614817', 'ORDO:401996']",['DOID:1063']
1570,0070026,Revesz syndrome,"""A dyskeratosis congenita that has_material_basis_in a mutation of TINF2 on chromosome 14q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18252230]",['DO_rare_slim'],"['GARD:4695', 'OMIM:268130']",['DOID:2729']
1573,0070029,ITM2B-related cerebral amyloid angiopathy 1,"""A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10391242, url:https\://www.ncbi.nlm.nih.gov/pubmed/7086452]",['DO_rare_slim'],"['GARD:8344', 'OMIM:176500']",['DOID:9246']
1599,0070055,Xia-Gibbs Syndrome,"""An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of AHDC1 on chromosome 1p36.1-p35.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24791903]",['DO_rare_slim'],"['GARD:13409', 'OMIM:615829']",['DOID:0060307']
1606,0070062,Arboleda-Tham syndrome,"""An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of KAT6A on chromosome 8p11.21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25728775]",['DO_rare_slim'],"['OMIM:616268', 'ORDO:457193']",['DOID:0060307']
1638,0070096,oculocutaneous albinism type II,"""An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of OCA2 on chromosome 15q12-q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18680187]",['DO_rare_slim'],"['GARD:4038', 'MESH:C537730', 'OMIM:203200']",['DOID:0050632']
1639,0070097,oculocutaneous albinism type III,"""An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of TYRP1 on chromosome 9p23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9345097]",['DO_rare_slim'],"['GARD:4039', 'OMIM:203290']",['DOID:0050632']
1643,0070111,Niemann-Pick disease type A,"""A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/13696518, url:https\://www.ncbi.nlm.nih.gov/pubmed/19405096]",['DO_rare_slim'],"['GARD:7206', 'ICD10CM:E75.2', 'OMIM:257200']",['DOID:14504']
1644,0070112,Niemann-Pick disease type B,"""A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of SMPD1 on chromosome 11p15.4."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12369017, url:https\://www.ncbi.nlm.nih.gov/pubmed/13696518]",['DO_rare_slim'],"['GARD:10729', 'ICD10CM:E75.2', 'OMIM:607616']",['DOID:14504']
1645,0070113,Niemann-Pick disease type C1,"""A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC1 on chromosome 18q11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11182931]",['DO_rare_slim'],"['GARD:7207', 'ICD10CM:E75.2', 'OMIM:257220']",['DOID:14504']
1646,0070114,Niemann-Pick disease type C2,"""A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of NPC2 on chromosome 14q24.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17470133]",['DO_rare_slim'],"['GARD:3992', 'ICD10CM:E75.2', 'OMIM:607625']",['DOID:14504']
1653,0070121,Meckel syndrome 7,"""A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of NPHP3 on chromosome 3q22.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18371931]",['DO_rare_slim'],"['MESH:C537756', 'OMIM:267010', 'ORDO:3032', 'SNOMEDCT_US_2022_09_01:773737004', 'UMLS_CUI:C2673885']",['DOID:0050778']
1654,0070122,Meckel syndrome 8,"""A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TCTN2 on chromosome 12q24.31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21462283]",['DO_rare_slim'],"['ICD10CM:Q61.9', 'OMIM:613885', 'ORDO:90674']",['DOID:0050778']
1657,0070125,congenital nongoitrous hypothyroidism 5,"""A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16418214]",['DO_rare_slim'],"['ICD10CM:E03.1', 'OMIM:225250', 'ORDO:90673']",['DOID:0050328']
1664,0070132,autosomal recessive cutis laxa type IIIA,"""A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11092761]",['DO_rare_slim'],"['ICD10CM:Q82.8', 'OMIM:219150', 'ORDO:35664']",['DOID:0070143']
1669,0070137,autosomal recessive cutis laxa type IIB,"""A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19576563]",['DO_rare_slim'],"['ICD10CM:Q82.8', 'OMIM:612940', 'ORDO:357064']",['DOID:3144']
1671,0070139,autosomal recessive cutis laxa type IC,"""A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19836010]",['DO_rare_slim'],"['MESH:C567716', 'OMIM:613177', 'ORDO:221145', 'SNOMEDCT_US_2022_09_01:784349004', 'UMLS_CUI:C2750804']",['DOID:0070144']
1673,0070141,autosomal recessive cutis laxa type II classic type,"""A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28065471]",['DO_rare_slim'],"['ICD10CM:Q82.8', 'ORDO:357074']",['DOID:3144']
1674,0070142,autosomal dominant cutis laxa,"""A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18348261]",['DO_rare_slim'],"['ICD10CM:Q82.8', 'ORDO:90348']",['DOID:3144']
1675,0070143,autosomal recessive cutis laxa type III,"""A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18388779]",['DO_rare_slim'],"['GARD:49', 'MESH:C535990', 'ORDO:2962', 'SNOMEDCT_US_2022_09_01:238826008', 'UMLS_CUI:C0268354']",['DOID:3144']
1676,0070144,autosomal recessive cutis laxa type I,"""A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19401719]",['DO_rare_slim'],"['GARD:8480', 'MESH:C562628', 'ORDO:90439', 'SNOMEDCT_US_2022_09_01:254222002', 'UMLS_CUI:C0268351', 'UMLS_CUI:C0432336']",['DOID:3144']
1677,0070145,hereditary sensory and autonomic neuropathy type 5,"""A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14976160, url:https\://www.ncbi.nlm.nih.gov/pubmed/77656]","['DO_rare_slim', 'NCIthesaurus']","['GARD:12328', 'MESH:D000699', 'MESH:D009477', 'NCI:C156360', 'OMIM:608654', 'ORDO:608654', 'SNOMEDCT_US_2022_09_01:128206006', 'SNOMEDCT_US_2022_09_01:403605007', 'UMLS_CUI:C0002768', 'UMLS_CUI:C0020075']",['DOID:0050548']
1678,0070146,hereditary sensory neuropathy type 4,"""A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14272277, url:https\://www.ncbi.nlm.nih.gov/pubmed/8696348]","['DO_rare_slim', 'NCIthesaurus']","['GARD:3006', 'MESH:D009477', 'NCI:C118633', 'OMIM:256800', 'ORDO:642', 'SNOMEDCT_US_2022_09_01:62985007', 'UMLS_CUI:C0020074']",['DOID:0050548']
1680,0070148,hereditary sensory neuropathy type 1B,"""A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12870133, url:https\://www.ncbi.nlm.nih.gov/pubmed/16311270]",['DO_rare_slim'],"['MESH:C564296', 'OMIM:608088', 'ORDO:139564', 'SNOMEDCT_US_2022_09_01:717825008', 'UMLS_CUI:C1842586']",['DOID:0050548']
1681,0070149,hereditary sensory and autonomic neuropathy type 7,"""A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24036948]",['DO_rare_slim'],"['GARD:12723', 'ICD10CM:G60.8', 'OMIM:615548', 'ORDO:391397']",['DOID:0050548']
1683,0070151,hereditary sensory and autonomic neuropathy type 6,"""A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22522446]",['DO_rare_slim'],"['ICD10CM:G60.8', 'OMIM:614653', 'ORDO:314381']",['DOID:0050548']
1685,0070153,hereditary sensory and autonomic neuropathy type 8,"""A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26005867]",['DO_rare_slim'],"['OMIM:616488', 'ORDO:478664']",['DOID:0050548']
1690,0070158,hereditary sensory neuropathy type 1E,"""A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21532572]",['DO_rare_slim'],"['GARD:11927', 'ICD10CM:G60.8', 'OMIM:614116', 'ORDO:456318']",['DOID:0050548']
1693,0070161,hereditary sensory and autonomic neuropathy type 2,"""A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21089229]",['DO_rare_slim'],"['GARD:3976', 'MESH:D002607', 'MESH:D009477', 'ORDO:970', 'SNOMEDCT_US_2022_09_01:30508001', 'UMLS_CUI:C0020072', 'UMLS_CUI:C0270914']",['DOID:0050548']
1694,0070162,hereditary sensory and autonomic neuropathy type 1,"""A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18348718]",['DO_rare_slim'],"['GARD:6635', 'MESH:D009477', 'NCI:C170433', 'ORDO:36386', 'SNOMEDCT_US_2022_09_01:52647008', 'UMLS_CUI:C0020071']",['DOID:0050548']
1714,0070183,spermatogenic failure 5,"""A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17435757]",['DO_rare_slim'],"['GARD:12385', 'MESH:C562903', 'OMIM:243060', 'ORDO:137893', 'SNOMEDCT_US_2021_09_01:236806004']",['DOID:0111910']
1727,0070197,distal myopathy 1,"""A distal muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15322983, url:https\://www.ncbi.nlm.nih.gov/pubmed/7847377]",['DO_rare_slim'],"['GARD:10769', 'OMIM:160500', 'ORDO:59135']",['DOID:11720']
1728,0070198,Miyoshi muscular dystrophy,"""A distal muscular dystrophy characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/3942856]",['DO_rare_slim'],"['GARD:9676', 'MESH:C537480', 'OMIM:PS254130', 'ORDO:45448']",['DOID:11720']
1732,0070202,familial partial lipodystrophy type 2,"""A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10587585, url:https\://www.ncbi.nlm.nih.gov/pubmed/170190]",['DO_rare_slim'],"['GARD:3126', 'MESH:D052496', 'NCI:C165527', 'OMIM:151660', 'ORDO:2348', 'SNOMEDCT_US_2022_09_01:715439000', 'UMLS_CUI:C1720860']",['DOID:0050440']
1733,0070203,familial partial lipodystrophy type 5,"""A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20049731]",['DO_rare_slim'],"['OMIM:615238', 'ORDO:435651']",['DOID:0050440']
1734,0070204,familial partial lipodystrophy type 3,"""A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10622252]",['DO_rare_slim'],"['GARD:12600', 'MESH:D052496', 'OMIM:604367', 'ORDO:79083', 'SNOMEDCT_US_2022_09_01:1197745002', 'UMLS_CUI:C1720861']",['DOID:0050440']
1735,0070205,familial partial lipodystrophy type 4,"""A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21345103]",['DO_rare_slim'],"['GARD:12601', 'OMIM:613877', 'ORDO:280356']",['DOID:0050440']
1736,0070206,familial partial lipodystrophy type 6,"""A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24848981]",['DO_rare_slim'],"['OMIM:615980', 'ORDO:435660']",['DOID:0050440']
1737,0070207,familial partial lipodystrophy type 1,"""A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/3712389]",['DO_rare_slim'],"['GARD:12598', 'MESH:D052496', 'OMIM:608600', 'ORDO:79084', 'SNOMEDCT_US_2022_09_01:725035001', 'UMLS_CUI:C1720859']",['DOID:0050440']
1742,0070212,hereditary lymphedema I,"""A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9817924]",['DO_rare_slim'],"['GARD:7220', 'ICD10CM:Q82.0', 'MESH:D008209', 'NCI:C48829', 'ORDO:79452', 'SNOMEDCT_US_2022_09_01:268355000', 'UMLS_CUI:C1704423']",['DOID:0050580']
1743,0070213,hereditary lymphedema II,"""A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/6342849]",['DO_rare_slim'],"['GARD:3324', 'ICD10CM:I89.0', 'MESH:C562467', 'OMIM:153200', 'ORDO:90186', 'SNOMEDCT_US_2022_09_01:234098006', 'SNOMEDCT_US_2022_09_01:400040008', 'UMLS_CUI:C0238261', 'UMLS_CUI:C1704424']",['DOID:0050580']
1744,0070214,familial hyperinsulinemic hypoglycemia 7,"""A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17701893]",['DO_rare_slim'],"['GARD:9932', 'MESH:C538376', 'NCI:C131839', 'OMIM:610021', 'ORDO:165991', 'SNOMEDCT_US_2022_09_01:715830008', 'UMLS_CUI:C1864902']",['DOID:13317']
1745,0070215,familial hyperinsulinemic hypoglycemia 4,"""A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11489939]",['DO_rare_slim'],"['GARD:2819', 'OMIM:609975', 'ORDO:71212']",['DOID:13317']
1746,0070216,familial hyperinsulinemic hypoglycemia 3,"""A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11916951, url:https\://www.ncbi.nlm.nih.gov/pubmed/9435328]",['DO_rare_slim'],"['GARD:2818', 'OMIM:602485', 'ORDO:79299']",['DOID:13317']
1747,0070217,familial hyperinsulinemic hypoglycemia 6,"""A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8769351, url:https\://www.ncbi.nlm.nih.gov/pubmed/9571255]",['DO_rare_slim'],"['GARD:9931', 'OMIM:606762', 'ORDO:35878']",['DOID:13317']
1750,0070220,familial hyperinsulinemic hypoglycemia 5,"""A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15161766]",['DO_rare_slim'],"['OMIM:609968', 'ORDO:263458']",['DOID:13317']
1751,0070221,progressive familial intrahepatic cholestasis,"""An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15239083, url:https\://www.ncbi.nlm.nih.gov/pubmed/8014759]",['DO_rare_slim'],"['NCI:C84453', 'OMIM:PS211600', 'ORDO:172', 'SNOMEDCT_US_2022_09_01:74162007', 'UMLS_CUI:C0268312']",['DOID:1852']
1752,0070222,progressive familial intrahepatic cholestasis 2,"""A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9806540]",['DO_rare_slim'],"['GARD:1288', 'MESH:C535934', 'OMIM:601847', 'ORDO:79304', 'SNOMEDCT_US_2022_09_01:1155841005', 'UMLS_CUI:C3489789']",['DOID:0070221']
1753,0070223,progressive familial intrahepatic cholestasis 3,"""A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9419367]",['DO_rare_slim'],"['GARD:1289', 'MESH:C535935', 'OMIM:602347', 'ORDO:79305', 'SNOMEDCT_US_2022_09_01:1186865008', 'UMLS_CUI:C1865643']",['DOID:0070221']
1754,0070224,progressive familial intrahepatic cholestasis 4,"""A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24614073]",['DO_rare_slim'],"['OMIM:615878', 'ORDO:480483']",['DOID:0070221']
1755,0070225,progressive familial intrahepatic cholestasis 5,"""A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26888176]",['DO_rare_slim'],"['OMIM:617049', 'ORDO:480476']",['DOID:0070221']
1756,0070226,progressive familial intrahepatic cholestasis 1,"""A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9500542]",['DO_rare_slim'],"['GARD:9802', 'MESH:C535933', 'OMIM:211600', 'ORDO:79306']",['DOID:0070221']
1757,0070227,intrahepatic cholestasis of pregnancy,"""An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27936482]",['DO_rare_slim'],"['GARD:9804', 'MESH:C535932', 'ORDO:69665']",['DOID:1852']
1760,0070230,benign recurrent intrahepatic cholestasis,"""An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23402083]",['DO_rare_slim'],"['GARD:12185', 'NCI:C84402', 'OMIM:PS243300', 'ORDO:65682', 'SNOMEDCT_US_2021_09_01:31155007']",['DOID:1852']
1761,0070231,benign recurrent intrahepatic cholestasis 1,"""A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9500542]",['DO_rare_slim'],"['GARD:10028', 'OMIM:243300', 'ORDO:99960']",['DOID:0070230']
1762,0070232,benign recurrent intrahepatic cholestasis 2,"""A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15300568]",['DO_rare_slim'],"['GARD:10029', 'MESH:C535934', 'OMIM:605479', 'ORDO:99961']",['DOID:0070230']
1769,0070239,primary coenzyme Q10 deficiency 2,"""A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of PDSS1 on chromosome 10p12.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17332895]",['DO_rare_slim'],"['OMIM:614651', 'ORDO:254898']",['DOID:0050730']
1771,0070241,primary coenzyme Q10 deficiency 4,"""A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of ADCK3 on chromosome 1q42.13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18319072]",['DO_rare_slim'],"['GARD:10294', 'OMIM:612016', 'ORDO:139485']",['DOID:0050730']
1772,0070242,primary coenzyme Q10 deficiency 5,"""A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ9 on chromosome 16q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19375058]",['DO_rare_slim'],"['OMIM:614654', 'ORDO:319678']",['DOID:0050730']
1773,0070243,primary coenzyme Q10 deficiency 6,"""A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ6 on chromosome 14q24.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21540551]",['DO_rare_slim'],"['OMIM:614650', 'ORDO:280406']",['DOID:0050730']
1774,0070244,primary coenzyme Q10 deficiency 7,"""A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ4 on chromosome 9q34.11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25658047]",['DO_rare_slim'],"['OMIM:616276', 'ORDO:457185']",['DOID:0050730']
1777,0070247,autosomal dominant Emery-Dreifuss muscular dystrophy 2,"""An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of LMNA on chromosome 1q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10080180, url:https\://www.ncbi.nlm.nih.gov/pubmed/10814726, url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=30055862]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:181350', 'ORDO:264']",['DOID:11726']
1783,0070253,congenital disorder of glycosylation type IIa,"""A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of MGAT2 on chromosome 14q21.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8127054]",['DO_rare_slim'],"['GARD:9828', 'MESH:C535752', 'OMIM:212066', 'ORDO:79329', 'SNOMEDCT_US_2022_09_01:724142005', 'UMLS_CUI:C2931008']",['DOID:0050571']
1784,0070254,congenital disorder of glycosylation type IIb,"""A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of MOGS on chromosome 2p13.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10788335]",['DO_rare_slim'],"['GARD:10767', 'MESH:C565264', 'OMIM:606056', 'ORDO:79330', 'SNOMEDCT_US_2022_09_01:725028009', 'UMLS_CUI:C1853736']",['DOID:0050571']
1785,0070255,congenital disorder of glycosylation type IIc,"""A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35C1 on chromosome 11p11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10590041]",['DO_rare_slim'],"['GARD:4634', 'MESH:C535755', 'NCI:C4690', 'OMIM:266265', 'ORDO:99843', 'SNOMEDCT_US_2022_09_01:234583001', 'UMLS_CUI:C0398739']",['DOID:0050571']
1786,0070256,congenital disorder of glycosylation type IId,"""A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of B4GALT1 on chromosome 9p21.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11901181]",['DO_rare_slim'],"['GARD:9841', 'MESH:C535753', 'OMIM:607091', 'ORDO:79332', 'SNOMEDCT_US_2022_09_01:725587007', 'UMLS_CUI:C2931009']",['DOID:0050571']
1787,0070257,congenital disorder of glycosylation type IIe,"""A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG7 on chromosome 16p12.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15107842]",['DO_rare_slim'],"['GARD:9842', 'MESH:C535754', 'OMIM:608779', 'ORDO:79333', 'SNOMEDCT_US_2022_09_01:717773005', 'UMLS_CUI:C2931010']",['DOID:0050571']
1788,0070258,congenital disorder of glycosylation type IIf,"""A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35A1 on chromosome 6q15."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11157507]",['DO_rare_slim'],"['GARD:12409', 'MESH:C567040', 'OMIM:603585', 'ORDO:238459', 'SNOMEDCT_US_2022_09_01:723624008', 'UMLS_CUI:C1970344']",['DOID:0050571']
1789,0070259,congenital disorder of glycosylation type IIg,"""A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG1 on chromosome 17q25.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16537452]",['DO_rare_slim'],"['GARD:10226', 'MESH:C535756', 'OMIM:611209', 'ORDO:263508', 'SNOMEDCT_US_2022_09_01:718750004', 'UMLS_CUI:C2931011']",['DOID:0050571']
1790,0070260,congenital disorder of glycosylation type IIh,"""A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG8 on chromosome 16q22.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17220172]",['DO_rare_slim'],"['GARD:12411', 'MESH:C566987', 'OMIM:611182', 'ORDO:95428', 'SNOMEDCT_US_2022_09_01:717774004', 'UMLS_CUI:C1970021']",['DOID:0050571']
1791,0070261,congenital disorder of glycosylation type IIi,"""A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG5 on chromosome 7q22.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19690088]",['DO_rare_slim'],"['GARD:12348', 'OMIM:613612', 'ORDO:263487']",['DOID:0050571']
1792,0070262,congenital disorder of glycosylation type IIj,"""A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG4 on chromosome 16q22.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19494034]",['DO_rare_slim'],"['GARD:12412', 'OMIM:613489', 'ORDO:263501']",['DOID:0050571']
1793,0070263,congenital disorder of glycosylation type IIk,"""A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM165 on chromosome 4q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22683087]",['DO_rare_slim'],"['GARD:12413', 'OMIM:614727', 'ORDO:314667']",['DOID:0050571']
1794,0070264,congenital disorder of glycosylation type IIl,"""A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG6 on chromosome 13q14.11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20605848]",['DO_rare_slim'],"['GARD:10944', 'OMIM:614576', 'ORDO:464443']",['DOID:0050571']
1795,0070265,congenital disorder of glycosylation type IIm,"""A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23561849]",['DO_rare_slim'],"['GARD:12403', 'OMIM:300896', 'ORDO:356961']",['DOID:0050571']
1796,0070266,congenital disorder of glycosylation type IIn,"""A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC39A8 on chromosome 4q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26637978]",['DO_rare_slim'],"['OMIM:616721', 'ORDO:468699']",['DOID:0050571']
1797,0070267,congenital disorder of glycosylation type IIo,"""A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of CCDC115 on chromosome 2q21.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26833332]",['DO_rare_slim'],"['OMIM:616828', 'ORDO:468684']",['DOID:0050571']
1798,0070268,congenital disorder of glycosylation type IIp,"""A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM199 on chromosome 17q11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26833330]",['DO_rare_slim'],"['OMIM:616829', 'ORDO:466703']",['DOID:0050571']
1799,0070269,congenital disorder of glycosylation type IIq,"""A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG2 on chromosome 1q42.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24784932]",['DO_rare_slim'],"['OMIM:617395', 'ORDO:435934']",['DOID:0050571']
1826,0070296,primary autosomal recessive microcephaly,"""A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15806441, url:https\://www.ncbi.nlm.nih.gov/pubmed/28912110]",['DO_rare_slim'],"['GARD:12117', 'OMIM:PS251200', 'ORDO:2512']",['DOID:0070297']
1829,0070299,multiple epiphyseal dysplasia 5,"""A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11479597]",['DO_rare_slim'],"['GARD:9794', 'MESH:C535505', 'OMIM:607078', 'ORDO:93311', 'SNOMEDCT_US_2022_09_01:715674008', 'UMLS_CUI:C1846843']",['DOID:12721']
1830,0070300,multiple epiphyseal dysplasia 4,"""A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10465113]",['DO_rare_slim'],"['GARD:9793', 'MESH:C535504', 'OMIM:226900', 'ORDO:93307', 'SNOMEDCT_US_2022_09_01:715672007', 'UMLS_CUI:C1847593']",['DOID:12721']
1833,0070303,multiple epiphyseal dysplasia 1,"""A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7670471, url:https\://www.ncbi.nlm.nih.gov/pubmed/7670472]",['DO_rare_slim'],"['GARD:2180', 'MESH:C535501', 'OMIM:132400', 'ORDO:93308', 'SNOMEDCT_US_2022_09_01:715673002', 'UMLS_CUI:C1838280']",['DOID:12721']
1835,0070305,multiple epiphyseal dysplasia due to collagen 9 anomaly,"""A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10090888, url:https\://www.ncbi.nlm.nih.gov/pubmed/11891674]",['DO_rare_slim'],['ORDO:166002'],['DOID:12721']
1837,0070307,craniolenticulosutural dysplasia,"""A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects."" [url:https\://en.wikipedia.org/wiki/Cranio%E2%80%93lenticulo%E2%80%93sutural_dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=16980979, url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=29161034]",['DO_rare_slim'],"['MESH:C564332', 'OMIM:607812', 'ORDO:50814', 'SNOMEDCT_US_2022_09_01:725100001', 'UMLS_CUI:C1843042']",['DOID:225']
1842,0070313,thiamine deficiency disease,"""A nutritional deficiency disease that is characterized by low levels of thiamine."" [url:https\://en.wikipedia.org/wiki/Thiamine_deficiency]",['NCIthesaurus'],"['NCI:C34418', 'SNOMEDCT_US_2021_09_01:399357009']",['DOID:5113']
1844,0070315,hypoplastic right heart syndrome,"""A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24932961, url:https\://www.ncbi.nlm.nih.gov/pubmed/28009100]",['DO_rare_slim'],"['GARD:2922', 'ICD10CM:Q22.6', 'NCI:C99053', 'SNOMEDCT_US_2022_09_01:204348000', 'UMLS_CUI:C0344963']",['DOID:1682']
1845,0070316,Miura type epiphyseal chondrodysplasia,"""A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24057292, url:https\://www.ncbi.nlm.nih.gov/pubmed/24259409]",['DO_rare_slim'],"['OMIM:615923', 'ORDO:329191']",['DOID:0080006']
1846,0070317,wet beriberi,"""A beriberi that is located_in the cardiovascular system and has_symptom increased heart rate, swelling of lower legs, and shortness of breath."" [url:https\://en.wikipedia.org/wiki/Thiamine_deficiency, url:https\://medlineplus.gov/ency/article/000339.htm, url:https\://rarediseases.info.nih.gov/diseases/9948/beriberi]",['DO_rare_slim'],"['GARD:9948', 'ICD10CM:E51.12', 'SNOMEDCT_US_2021_09_01:67360000']",['DOID:13725']
1847,0070318,dry beriberi,"""A beriberi that is located_in the nervous system and has_symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting."" [url:https\://en.wikipedia.org/wiki/Thiamine_deficiency, url:https\://medlineplus.gov/ency/article/000339.htm, url:https\://rarediseases.info.nih.gov/diseases/9948/beriberi]",['DO_rare_slim'],"['GARD:9948', 'ICD10CM:E51.11', 'SNOMEDCT_US_2021_09_01:71021002']",['DOID:13725']
1851,0070322,childhood hepatocellular carcinoma,"""A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17714939, url:https\://www.ncbi.nlm.nih.gov/pubmed/28144610, url:https\://www.ncbi.nlm.nih.gov/pubmed/30254403]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9331', 'NCI:C7955', 'ORDO:33402']",['DOID:684']
1852,0070323,childhood acute myeloid leukemia,"""A childhood leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells."" [url:http\://www.danafarberbostonchildrens.org/conditions/leukemia-and-lymphoma/acute-myelogenous-leukemia.aspx, url:https\://en.wikipedia.org/wiki/Acute_myeloid_leukemia, url:https\://www.cancer.gov/types/leukemia/patient/child-aml-treatment-pdq]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9861/3', 'NCI:C9160']",['DOID:7757']
1853,0070324,systemic Epstein-Barr virus positive T-cell lymphoma of childhood,"""A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood."" [url:https\://en.wikipedia.org/wiki/Epstein-Barr_virus-associated_lymphoproliferative_diseases, url:https\://www.ncbi.nlm.nih.gov/pubmed/30931288]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['ICDO:9724/3', 'ORDO:364033', 'SNOMEDCT_US_2022_09_01:721311006', 'UMLS_CUI:C4303422']",['DOID:5823']
1854,0070325,malignant childhood adrenal gland pheochromocytoma,"""An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28324046, url:https\://www.ncbi.nlm.nih.gov/pubmed/28752085]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9368', 'NCI:C118822']",['DOID:0050892']
1855,0070326,spitzoid melanoma,"""A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377413/, url:https\://www.ncbi.nlm.nih.gov/pubmed/25666674, url:https\://www.ncbi.nlm.nih.gov/pubmed/25834363]","['DO_cancer_slim', 'NCIthesaurus']",['NCI:C136825'],['DOID:8923']
1856,0070327,melanoma in congenital melanocytic nevus,"""A skin melanoma that arises from a congenital melanocytic nevus."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27517357, url:https\://www.ncbi.nlm.nih.gov/pubmed/28078671]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:2469', 'ICDO:8761/3', 'NCI:C48613', 'UMLS_CUI:C1711221']",['DOID:8923']
1857,0070328,adult hepatocellular carcinoma,"""A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation."" [url:https\://www.cancer.gov/types/liver/patient/about-adult-liver-cancer-pdq, url:https\://www.ncbi.nlm.nih.gov/pubmed/25979220, url:https\://www.ncbi.nlm.nih.gov/pubmed/28761617, url:https\://www.ncbi.nlm.nih.gov/pubmed/30254403]","['DO_rare_slim', 'NCIthesaurus']","['NCI:C7956', 'ORDO:210159', 'SNOMEDCT_US_2022_09_01:1197204009', 'UMLS_CUI:C0279607']",['DOID:684']
1858,0070329,mitochondrial DNA depletion syndrome,"""A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs."" [url:https\://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/28215579, url:https\://www.ncbi.nlm.nih.gov/pubmed/29344903, url:https\://www.ncbi.nlm.nih.gov/pubmed/29950321, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=35698]",['DO_rare_slim'],"['GARD:13643', 'OMIM:PS603041', 'ORDO:35698']",['DOID:700']
1859,0070330,multiple mitochondrial dysfunctions syndrome,"""A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of of energy production resulting from mitochondria impairment."" [url:https\://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/24462711, url:https\://www.ncbi.nlm.nih.gov/pubmed/28161430]",['DO_rare_slim'],"['GARD:12632', 'MESH:C565304', 'OMIM:PS605711', 'ORDO:289573']",['DOID:700']
1867,0070338,cerebellar hypoplasia,"""A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed."" [url:https\://en.wikipedia.org/wiki/Cerebellar_hypoplasia, url:https\://www.ninds.nih.gov/Disorders/All-Disorders/Cerebellar-Hypoplasia-Information-Page]",['DO_rare_slim'],"['GARD:1194', 'MESH:C562568']",['DOID:2786']
1868,0070339,"cerebellar hyplasia/atrophy, epilepsy, and global developmental delay","""A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus."" [url:https\://pubmed.ncbi.nlm.nih.gov/31785787/]",['DO_rare_slim'],"['OMIM:213000', 'ORDO:2246']",['DOID:225']
1964,0080016,spina bifida,"""A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development."" [url:https\://en.wikipedia.org/wiki/Spina_bifida, url:https\://ghr.nlm.nih.gov/condition/spina-bifida]",['DO_rare_slim'],"['GARD:7673', 'ICD10CM:Q05', 'ICD9CM:741', 'MESH:D016135', 'NCI:C101214', 'SNOMEDCT_US_2022_09_01:156888006', 'UMLS_CUI:C0080178']",['DOID:0080074']
1968,0080021,Schmid metaphyseal chondrodysplasia,"""A metaphyseal dysplasia that results_in dwarfism and bowed legs."" [url:http\://en.wikipedia.org/wiki/Schmid_metaphyseal_chondrodysplasia, url:http\://www.ncbi.nlm.nih.gov/omim/156500]",['DO_rare_slim'],"['GARD:7029', 'OMIM:156500']",['DOID:0080019']
1971,0080028,"spondyloepimetaphyseal dysplasia, Strudwick type","""A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)."" [url:http\://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia\,_Strudwick_type, url:http\://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type]",['DO_rare_slim'],"['GARD:134', 'OMIM:184250', 'ORDO:93346']",['DOID:0080027']
1974,0080031,fibrous dysplasia,"""A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue."" [url:http\://en.wikipedia.org/wiki/Fibrous_dysplasia_of_bone, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00083, url:http\://www.mayoclinic.com/health/fibrous-dysplasia/DS00991, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001234.htm]","['DO_cancer_slim', 'DO_rare_slim']","['GARD:6444', 'ICDO:8818/0']",['DOID:0080005']
1975,0080032,craniodiaphyseal dysplasia,"""An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal."" [url:http\://en.wikipedia.org/wiki/Craniodiaphyseal_dysplasia, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1513]",['DO_rare_slim'],"['GARD:1567', 'MESH:C562940', 'OMIM:218300']",['DOID:4254']
1976,0080033,craniometaphyseal dysplasia,"""An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses."" [url:http\://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniometaphyseal%20Dysplasia, url:https\://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/, url:https\://www.ncbi.nlm.nih.gov/books/NBK154653/]",['DO_rare_slim'],"['OMIM:PS123000', 'ORDO:1522']",['DOID:4254']
1977,0080036,SOST-related sclerosing bone dysplasia,"""A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull."" [url:http\://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia, url:http\://rarediseases.info.nih.gov/GARD/Condition/4771/Sclerosteosis.aspx, url:http\://www.ncbi.nlm.nih.gov/omim/269500]",['DO_rare_slim'],"['OMIM:239100', 'ORDO:3152']",['DOID:205']
1978,0080037,Worth syndrome,"""A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate."" [url:http\://en.wikipedia.org/wiki/Worth_syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/29709743, url:https\://www.ncbi.nlm.nih.gov/pubmed/12579474, url:https\://www.ncbi.nlm.nih.gov/pubmed/4942110]",['DO_rare_slim'],"['GARD:390', 'MESH:C536748', 'OMIM:144750', 'ORDO:2790', 'SNOMEDCT_US_2022_09_01:254131007', 'UMLS_CUI:C0432273']",['DOID:205']
1979,0080038,pycnodysostosis,"""An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges."" [url:http\://en.wikipedia.org/wiki/Pycnodysostosis]",['DO_rare_slim'],"['GARD:4611', 'MESH:D058631', 'OMIM:265800', 'ORDO:763']",['DOID:2256']
1980,0080039,axial osteomalacia,"""An osteosclerosis that results_in coarsening located_in trabecular bone."" [url:http\://en.wikipedia.org/wiki/Axial_osteomalacia, url:http\://rarediseases.info.nih.gov/GARD/Condition/8431/Axial_osteomalacia.aspx, url:http\://www.ncbi.nlm.nih.gov/omim/109130]",['DO_rare_slim'],"['GARD:8431', 'MESH:C537791', 'OMIM:109130']",['DOID:4254']
1982,0080041,hypochondroplasia,"""An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism."" [url:http\://en.wikipedia.org/wiki/Hypochondroplasia, url:http\://ghr.nlm.nih.gov/condition/hypochondroplasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1477/]",['DO_rare_slim'],"['GARD:6724', 'ICD10CM:Q77.4', 'MESH:C562937', 'NCI:C118697', 'OMIM:146000', 'ORDO:429', 'SNOMEDCT_US_2022_09_01:205468002', 'UMLS_CUI:C0410529']",['DOID:2256']
1984,0080043,achondrogenesis,"""An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period."" [url:http\://en.wikipedia.org/wiki/Achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001247.htm, url:http\://www.orpha.net/data/patho/Pro/en/Achondrogenesis-FRenPro1256.pdf, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Achondrogenesis]",['DO_rare_slim'],"['GARD:2882', 'MESH:C579878', 'OMIM:PS200600']",['DOID:2256']
1986,0080045,Kniest dysplasia,"""An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face."" [url:http\://ghr.nlm.nih.gov/condition/kniest-dysplasia, url:http\://www.ksginfo.org/kniest.html]",['DO_rare_slim'],"['GARD:6841', 'MESH:C537207', 'OMIM:156550']",['DOID:2256']
1987,0080046,Stickler syndrome,"""A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems."" [url:https\://en.wikipedia.org/wiki/Stickler_syndrome, url:https\://ghr.nlm.nih.gov/condition/stickler-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1302/]",['DO_rare_slim'],"['GARD:10782', 'OMIM:PS108300', 'ORDO:828']",['DOID:225']
1988,0080047,pseudoachondroplasia,"""An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism."" [url:http\://en.wikipedia.org/wiki/Pseudoachondroplasia, url:http\://ghr.nlm.nih.gov/condition/pseudoachondroplasia, url:http\://www.healthline.com/galecontent/pseudoachondroplasia, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=750.0, url:http\://www.wheelessonline.com/ortho/pseudoachondroplasia]",['DO_rare_slim'],"['GARD:4540', 'MESH:C535819', 'OMIM:177170']",['DOID:2256']
1989,0080049,acromesomelic dysplasia,"""An osteochondrodysplasia that is characterized by mesomelia and acromelia, which results_in short limb dwarfism."" [url:http\://www.webmd.com/a-to-z-guides/acromesomelic-dysplasia, url:https\://rarediseases.org/rare-diseases/acromesomelic-dysplasia/]",['DO_rare_slim'],"['GARD:6', 'MESH:C535658', 'ORDO:93437']",['DOID:2256']
1990,0080050,"acromesomelic dysplasia, Maroteaux type","""An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments."" [url:http\://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf, url:https\://en.wikipedia.org/wiki/Acromesomelic_dysplasia]",['DO_rare_slim'],"['GARD:507', 'MESH:C535661', 'OMIM:602875', 'ORDO:40']",['DOID:0080049']
1991,0080051,"acromesomelic dysplasia, Hunter-Thompson type","""An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot."" [url:http\://www.orpha.net/data/patho/GB/uk-hunter05.pdf, url:https\://en.wikipedia.org/wiki/Acromesomelic_dysplasia]",['DO_rare_slim'],"['GARD:506', 'OMIM:201250', 'ORDO:968']",['DOID:0080049']
1992,0080052,"acromesomelic dysplasia, Grebe type","""An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones."" [url:http\://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf, url:https\://en.wikipedia.org/wiki/Acromesomelic_dysplasia]",['DO_rare_slim'],"['GARD:1300', 'OMIM:200700', 'ORDO:2098']",['DOID:0080049']
1993,0080053,Albright's hereditary osteodystrophy,"""An pseudohypoparathyroidism that has_material_basis_in lack of responsiveness to parathyroid  hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face."" [url:http\://en.wikipedia.org/wiki/Albright%27s_hereditary_osteodystrophy, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=5770, url:http\://www.orpha.net/data/patho/Pro/en/Albright-FRenPro1314.pdf]",['DO_rare_slim'],"['GARD:5770', 'MESH:C537045', 'OMIM:103580']",['DOID:4184']
1994,0080054,achondrogenesis type IA,"""An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine."" [url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_1A]",['DO_rare_slim'],"['GARD:459', 'OMIM:200600']",['DOID:0080043']
1995,0080055,achondrogenesis type IB,"""An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen."" [url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_1B, url:http\://ghr.nlm.nih.gov/condition/achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1516/]",['DO_rare_slim'],"['GARD:460', 'OMIM:600972']",['DOID:0080043']
1996,0080056,achondrogenesis type II,"""An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis."" [url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_2, url:http\://ghr.nlm.nih.gov/condition/achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis]",['DO_rare_slim'],"['GARD:8713', 'MESH:C536017', 'OMIM:200610']",['DOID:0080043']
1999,0080059,autosomal recessive spinocerebellar ataxia 7,"""An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15."" [url:https\://ghr.nlm.nih.gov/gene/TPP1, url:https\://www.ncbi.nlm.nih.gov/pubmed/26224725]",['DO_rare_slim'],"['GARD:12232', 'OMIM:609270']",['DOID:0050950']
2010,0080070,mucolipidosis II alpha/beta,"""A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene."" [url:https\://en.wikipedia.org/wiki/I-cell_disease, url:https\://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta, url:https\://pubmed.ncbi.nlm.nih.gov/16116615/, url:https\://rarediseases.org/rare-diseases/i-cell-disease/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1828/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336676/]",['DO_rare_slim'],"['GARD:6749', 'OMIM:252500']",['DOID:0080488']
2011,0080071,mucolipidosis III alpha/beta,"""A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase."" [url:https\://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta]",['DO_rare_slim'],"['OMIM:252600', 'ORDO:577']",['DOID:0080488']
2012,0080072,intestinal pseudo-obstruction,"""A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract."" [url:https\://ghr.nlm.nih.gov/condition/intestinal-pseudo-obstruction, url:https\://pubmed.ncbi.nlm.nih.gov/31848803/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:12744', 'GARD:6789', 'MESH:D007418', 'NCI:C34733', 'ORDO:2978', 'SNOMEDCT_US_2022_09_01:235825006', 'UMLS_CUI:C0021847']",['DOID:5353']
2014,0080074,neural tube defect,"""A physical disorder characterized by incomplete closure of the neural tube."" [url:https\://en.wikipedia.org/wiki/Neural_tube_defect, url:https\://www.ncbi.nlm.nih.gov/books/NBK555903/]",['DO_rare_slim'],"['GARD:4016', 'OMIM:301410', 'OMIM:601634']",['DOID:0080015']
2019,0080079,nonsyndromic congenital nail disorder 1,"""A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance."" [url:https\://pubmed.ncbi.nlm.nih.gov/26149975/]",['DO_rare_slim'],"['OMIM:161050', 'ORDO:280654', 'ORDO:79153']",['DOID:0080683']
2022,0080082,nonsyndromic congenital nail disorder 4,"""A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13."" [url:https\://ghr.nlm.nih.gov/condition/anonychia-congenita, url:https\://pubmed.ncbi.nlm.nih.gov/26149975/]",['DO_rare_slim'],"['GARD:12930', 'MESH:C536377', 'OMIM:206800']",['DOID:0080683']
2028,0080089,tubular aggregate myopathy 1,"""A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/]",['DO_rare_slim'],"['GARD:3884', 'OMIM:160565']",['DOID:423']
2029,0080090,reducing body myopathy 1A,"""A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26."" [url:https\://pubmed.ncbi.nlm.nih.gov/17099882/]",['DO_rare_slim'],"['GARD:12162', 'OMIM:300717']",['DOID:423']
2030,0080092,myofibrillar myopathy 1,"""A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23687351, url:https\://www.omim.org/entry/601419]","['DO_FlyBase_slim', 'DO_rare_slim']","['ICD10CM:G71.0', 'OMIM:601419', 'ORDO:363543']",['DOID:0080307']
2031,0080093,myofibrillar myopathy 2,"""A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23."" [url:https\://www.omim.org/entry/608810]",['DO_rare_slim'],"['OMIM:608810', 'ORDO:399058']",['DOID:0080307']
2032,0080094,myofibrillar myopathy 3,"""A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31."" [url:https\://pubmed.ncbi.nlm.nih.gov/10958653/, url:https\://pubmed.ncbi.nlm.nih.gov/16380616/, url:https\://pubmed.ncbi.nlm.nih.gov/30055862/, url:https\://www.omim.org/entry/609200]",['DO_rare_slim'],"['GARD:10229', 'GARD:8711', 'ICD10CM:G71.0', 'MESH:C000598645', 'MESH:C535906', 'OMIM:609200', 'ORDO:266', 'ORDO:268129']",['DOID:0080307']
2037,0080099,"myopathy, lactic acidosis, and sideroblastic anemia","""A mitochondrial myopathy that is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253070/]",['DO_rare_slim'],['ORDO:2598'],['DOID:699']
2038,0080101,Compton-North congenital myopathy,"""A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels."" [url:https\://pubmed.ncbi.nlm.nih.gov/19026398/]",['DO_rare_slim'],"['OMIM:612540', 'ORDO:210163']",['DOID:0081337']
2040,0080103,cylindrical spirals myopathy,"""A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions."" [url:https\://en.wikipedia.org/wiki/Congenital_myopathy#Cylindrical_spirals_myopathy]",['DO_rare_slim'],"['GARD:11906', 'OMIM:160990']",['DOID:0081337']
2045,0080109,infantile myofibromatosis,"""A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs."" [url:https\://pubmed.ncbi.nlm.nih.gov/27259011/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23731542]",['DO_rare_slim'],"['GARD:2998', 'OMIM:228550', 'OMIM:615293', 'ORDO:2591']",['DOID:0060123']
2046,0080110,"contractures, pterygia, and spondylocarpotarsal fusion syndrome","""A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits."" [url:http\://rarediseases.org/rare-diseases/pterygium-syndrome-multiple/, url:https\://en.wikipedia.org/wiki/Multiple_pterygium_syndrome, url:https\://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/25957469]",['DO_rare_slim'],"['MESH:C537377', 'OMIM:253290', 'OMIM:265000', 'OMIM:312150', 'OMIM:PS178110']",['DOID:225']
2055,0080119,mitochondrial DNA depletion syndrome 1,"""A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13."" [url:https\://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome, url:https\://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease, url:https\://www.ncbi.nlm.nih.gov/pubmed/19056268, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301358, url:https\://www.omim.org/entry/603041]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9920', 'MESH:C536350', 'NCI:C11967', 'OMIM:603041', 'ORDO:298']",['DOID:0070329']
2056,0080120,mitochondrial DNA depletion syndrome 2,"""A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21."" [url:https\://ghr.nlm.nih.gov/condition/tk2-related-mitochondrial-dna-depletion-syndrome-myopathic-form, url:https\://www.ncbi.nlm.nih.gov/pubmed/2881246, url:https\://www.ncbi.nlm.nih.gov/pubmed/29735374, url:https\://www.omim.org/entry/609560]",['DO_rare_slim'],"['MESH:C563698', 'OMIM:609560', 'ORDO:254875']",['DOID:0070329']
2057,0080121,mitochondrial DNA depletion syndrome 3,"""A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13."" [url:https\://ghr.nlm.nih.gov/condition/deoxyguanosine-kinase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/24423689, url:https\://www.ncbi.nlm.nih.gov/pubmed/30589726, url:https\://www.omim.org/entry/251880]",['DO_rare_slim'],"['GARD:13644', 'MESH:C580039', 'OMIM:251880', 'ORDO:279934']",['DOID:0070329']
2058,0080122,Alpers-Huttenlocher syndrome,"""A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26."" [url:https\://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, url:https\://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/30103161, url:https\://www.ncbi.nlm.nih.gov/pubmed/30451971, url:https\://www.omim.org/entry/203700]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5783', 'ICD10CM:G31.81', 'MESH:D002549', 'NCI:C35257', 'OMIM:203700', 'ORDO:726', 'SNOMEDCT_US_2022_09_01:20415001', 'UMLS_CUI:C0205710']",['DOID:0070329']
2059,0080123,mitochondrial DNA depletion syndrome 4b,"""A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26."" [url:https\://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/30385167, url:https\://www.ncbi.nlm.nih.gov/pubmed/30395865, url:https\://www.omim.org/entry/613662]",['DO_rare_slim'],"['OMIM:613662', 'ORDO:298']",['DOID:0070329']
2061,0080125,mitochondrial DNA depletion syndrome 6,"""A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23."" [url:https\://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, url:https\://ghr.nlm.nih.gov/condition/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/29282788, url:https\://www.ncbi.nlm.nih.gov/pubmed/30298599, url:https\://www.omim.org/entry/256810]",['DO_rare_slim'],"['GARD:3972', 'MESH:C538344', 'OMIM:256810', 'ORDO:255229']",['DOID:0070329']
2062,0080126,mitochondrial DNA depletion syndrome 7,"""A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24."" [url:https\://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia, url:https\://www.ncbi.nlm.nih.gov/pubmed/18775955, url:https\://www.ncbi.nlm.nih.gov/pubmed/30391088]",['DO_rare_slim'],"['GARD:4062', 'MESH:C535523', 'OMIM:271245']",['DOID:0070329']
2063,0080127,mitochondrial DNA depletion syndrome 8a,"""A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22."" [url:https\://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, url:https\://ghr.nlm.nih.gov/condition/rrm2b-related-mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-renal-tubulopathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/24741716, url:https\://www.ncbi.nlm.nih.gov/pubmed/30439532, url:https\://www.omim.org/entry/612075]",['DO_rare_slim'],"['GARD:13200', 'MESH:C536350', 'OMIM:612075']",['DOID:0070329']
2064,0080128,mitochondrial DNA depletion syndrome 9,"""A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11."" [url:https\://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome, url:https\://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/28215579, url:https\://www.ncbi.nlm.nih.gov/pubmed/29217198, url:https\://www.omim.org/entry/245400]",['DO_rare_slim'],"['MESH:C580473', 'OMIM:245400', 'ORDO:17']",['DOID:0070329']
2065,0080129,mitochondrial DNA depletion syndrome 11,"""A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23313956, url:https\://www.ncbi.nlm.nih.gov/pubmed/28215579, url:https\://www.omim.org/entry/615084]",['DO_rare_slim'],"['OMIM:615084', 'ORDO:352447']",['DOID:0070329']
2066,0080130,mitochondrial DNA depletion syndrome 12a,"""A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27693233, url:https\://www.omim.org/entry/617184]",['NCIthesaurus'],"['NCI:C129977', 'OMIM:617184']",['DOID:0070329']
2067,0080131,mitochondrial DNA depletion syndrome 13,"""A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16."" [url:https\://ghr.nlm.nih.gov/condition/fbxl4-related-encephalomyopathic-mitochondrial-dna-depletion-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/26404457, url:https\://www.ncbi.nlm.nih.gov/pubmed/28215579, url:https\://www.ncbi.nlm.nih.gov/pubmed/28940506, url:https\://www.omim.org/entry/615471]",['DO_rare_slim'],"['GARD:13298', 'OMIM:615471', 'ORDO:369897']",['DOID:0070329']
2068,0080132,Sengers syndrome,"""A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34."" [url:https\://en.wikipedia.org/wiki/Sengers_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/28712724, url:https\://www.ncbi.nlm.nih.gov/pubmed/29682452, url:https\://www.omim.org/entry/212350]",['DO_rare_slim'],"['GARD:1142', 'MESH:C538280', 'OMIM:212350', 'ORDO:1369']",['DOID:0070329']
2069,0080133,multiple mitochondrial dysfunctions syndrome 1,"""A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13."" [url:https\://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/22077971, url:https\://www.ncbi.nlm.nih.gov/pubmed/28470589, url:https\://www.ncbi.nlm.nih.gov/pubmed/29441221, url:https\://www.omim.org/entry/605711]",['DO_rare_slim'],"['GARD:12632', 'OMIM:605711', 'ORDO:401869']",['DOID:0070330']
2070,0080134,multiple mitochondrial dysfunctions syndrome 2,"""A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13."" [url:https\://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/22562699, url:https\://www.ncbi.nlm.nih.gov/pubmed/24334290, url:https\://www.ncbi.nlm.nih.gov/pubmed/29654549, url:https\://www.omim.org/entry/614299]",['DO_rare_slim'],"['GARD:12632', 'OMIM:614299', 'ORDO:401874']",['DOID:0070330']
2071,0080135,multiple mitochondrial dysfunctions syndrome 3,"""A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27785568, url:https\://www.ncbi.nlm.nih.gov/pubmed/28671726, url:https\://www.ncbi.nlm.nih.gov/pubmed/28913435, url:https\://www.omim.org/entry/615330]",['DO_rare_slim'],"['OMIM:615330', 'ORDO:363424']",['DOID:0070330']
2072,0080136,multiple mitochondrial dysfunctions syndrome 4,"""A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25539947, url:https\://www.ncbi.nlm.nih.gov/pubmed/29122497, url:https\://www.ncbi.nlm.nih.gov/pubmed/29297947, url:https\://www.ncbi.nlm.nih.gov/pubmed/29359243, url:https\://www.omim.org/entry/616370]",['DO_rare_slim'],"['OMIM:616370', 'ORDO:457406']",['DOID:0070330']
2075,0080139,multiple congenital anomalies-hypotonia-seizures syndrome 2,"""A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10441586, url:https\://www.ncbi.nlm.nih.gov/pubmed/22305531]",['DO_rare_slim'],"['GARD:12777', 'OMIM:300868', 'ORDO:300496']",['DOID:0080503']
2079,0080143,congenital fibrosis of the extraocular muscles,"""An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position."" [url:https\://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles#synonyms, url:https\://www.ncbi.nlm.nih.gov/books/NBK1348/]",['DO_rare_slim'],"['GARD:12590', 'MESH:C580012', 'OMIM:PS135700', 'ORDO:45358']",['DOID:1279']
2080,0080144,childhood acute lymphocytic leukemia,"""An acute lymphocytic leukemia occuring during childhood."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.04d&ns=NCI_Thesaurus&code=C3168&key=736438179&b=1&n=null]","['DO_cancer_slim', 'NCIthesaurus']",['NCI:C3168'],['DOID:9952']
2081,0080145,childhood T-cell acute lymphoblastic leukemia,"""A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C7953]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C5640', 'UMLS_CUI:C1332997']",['DOID:0080144']
2082,0080146,childhood B-cell acute lymphoblastic leukemia,"""A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C9140]","['DO_cancer_slim', 'NCIthesaurus']",['NCI:C9140'],['DOID:0080144']
2083,0080147,lymphoblastic lymphoma,"""A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C7055]",['DO_rare_slim'],['GARD:3329'],['DOID:0060058']
2084,0080148,T-cell childhood lymphoblastic lymphoma,"""A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood."" [url:https\://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf]","['DO_cancer_slim', 'NCIthesaurus']",['NCI:C7210'],['DOID:0080147']
2085,0080149,adult acute monocytic leukemia,"""An acute monocytic leukemia occurring in adults."" [url:https\://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf]",['NCIthesaurus'],['NCI:C8263'],['DOID:8864']
2087,0080153,medium chain acyl-CoA dehydrogenase deficiency,"""A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting."" [url:http\://rarediseases.org/rare-diseases/medium-chain-acyl-coa-dehydrogenase-deficiency/, url:https\://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency]",['DO_rare_slim'],"['GARD:540', 'MESH:C536038', 'OMIM:201450', 'ORDO:42']",['DOID:3146']
2088,0080154,short chain acyl-CoA dehydrogenase deficiency,"""A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids."" [url:http\://rarediseases.org/rare-diseases/short-chain-acyl-coa-dehydrogenase-deficiency-scad/]",['DO_rare_slim'],"['GARD:4822', 'OMIM:201470', 'ORDO:26792']",['DOID:3146']
2089,0080155,very long chain acyl-CoA dehydrogenase deficiency,"""A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids."" [url:http\://rarediseases.org/rare-diseases/very-long-chain-acyl-coa-dehydrogenase-deficiency-lcad/, url:https\://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency]",['DO_rare_slim'],"['GARD:5508', 'OMIM:201475', 'ORDO:26793']",['DOID:3146']
2090,0080156,X-linked adrenal hypoplasia congenita,"""An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene."" [url:http\://www.ncbi.nlm.nih.gov/books/NBK1431/, url:https\://en.wikipedia.org/wiki/X-linked_adrenal_hypoplasia_congenita, url:https\://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita#genes, url:https\://www.ncbi.nlm.nih.gov/pubmed/27376611]",['DO_rare_slim'],"['GARD:555', 'OMIM:300200']",['DOID:10493']
2092,0080159,Cryptococcal meningitis,"""A fungal meningitis that has_material_basis_in Crypococcus fungal infection."" [url:https\://medlineplus.gov/ency/article/000642.htm]",['DO_infectious_disease_slim'],['MESH:D016919'],['DOID:11608']
2093,0080160,Cytomegalovirus retinitis,"""A retinitis that has_material_basis_in Cytomegalovirus."" [url:https\://medlineplus.gov/ency/article/000665.htm]",['DO_rare_slim'],"['GARD:9531', 'MESH:D017726']",['DOID:3612']
2094,0080161,cutaneous candidiasis,"""A candidiasis that is characterized by Candida infection located_in the skin."" [url:https\://medlineplus.gov/ency/article/000880.htm]",['DO_infectious_disease_slim'],['MESH:D002179'],['DOID:1508']
2095,0080162,lupus nephritis,"""A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus."" [url:https\://en.wikipedia.org/wiki/Lupus_nephritis#cite_note-1, url:https\://medlineplus.gov/ency/article/000481.htm]",['DO_rare_slim'],"['GARD:10747', 'MESH:D008181']",['DOID:2921']
2096,0080163,otulipenia,"""An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15."" [url:http\://www.omim.org/entry/617099?search=617099&highlight=617099, url:https\://www.ncbi.nlm.nih.gov/pubmed/27523608, url:https\://www.ncbi.nlm.nih.gov/pubmed/27559085, url:https\://www.nih.gov/news-events/news-releases/nih-researchers-discover-otulipenia-new-inflammatory-disease]",['DO_rare_slim'],"['GARD:13198', 'OMIM:617099']",['DOID:2914']
2097,0080164,"myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1","""A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19357394, url:https\://www.ncbi.nlm.nih.gov/pubmed/23489324]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C84270', 'UMLS_CUI:C2827356']",['DOID:0070004']
2098,0080165,myeloid and lymphoid neoplasms associated with PDGFRA rearrangement,"""A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84275&key=n472778324&b=1&n=null]",['NCIthesaurus'],['NCI:C84275'],['DOID:0080164']
2099,0080166,myeloid and lymphoid neoplasms associated with PDGFRB rearrangement,"""A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84276&key=n472778324&b=1&n=null]",['NCIthesaurus'],['NCI:C84276'],['DOID:0080164']
2100,0080167,myeloid and lymphoid neoplasms associated with FGFR1 abnormalities,"""A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84277&key=n472778324&b=1&n=null]",['NCIthesaurus'],['NCI:C84277'],['DOID:0080164']
2101,0080169,tricuspid atresia,"""A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth."" [url:https\://medlineplus.gov/ency/article/001110.htm]",['DO_rare_slim'],"['GARD:5274', 'MESH:D018785', 'OMIM:605067']",['DOID:0050826']
2102,0080170,normophosphatemic familial tumoral calcinosis,"""A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors."" [url:https\://en.wikipedia.org/wiki/Normophosphatemic_familial_tumoral_calcinosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/21160498]",['DO_rare_slim'],"['GARD:10878', 'OMIM:610455']",['DOID:182']
2103,0080171,esophageal atresia/tracheoesophageal fistula,"""A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing."" [url:https\://ghr.nlm.nih.gov/condition/esophageal-atresia-tracheoesophageal-fistula]",['DO_rare_slim'],"['GARD:7792', 'OMIM:189960']",['DOID:77']
2105,0080173,bladder exstrophy-epispadias-cloacal exstrophy complex,"""A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract."" [url:https\://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/, url:https\://www.ncbi.nlm.nih.gov/pubmed/22055685]",['DO_rare_slim'],"['OMIM:258040', 'ORDO:322']",['DOID:0080015']
2106,0080174,bladder exstrophy,"""A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening."" [url:https\://en.wikipedia.org/wiki/Bladder_exstrophy, url:https\://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/, url:https\://www.ncbi.nlm.nih.gov/pubmed/21929991, url:https\://www.ncbi.nlm.nih.gov/pubmed/22055685]",['DO_rare_slim'],"['ICD10CM:Q64.10', 'ICD9CM:753.5', 'MESH:D001746', 'OMIM:600057', 'ORDO:93930']",['DOID:0080173']
2107,0080175,cloacal exstrophy,"""A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel."" [url:https\://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/]",['DO_rare_slim'],"['OMIM:258040', 'ORDO:93929']",['DOID:0080173']
2108,0080176,meningococcal meningitis,"""A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection."" [url:http\://www.who.int/mediacentre/factsheets/fs141/en/, url:https\://en.wikipedia.org/wiki/Meningococcal_disease, url:https\://www.cdc.gov/meningococcal/about/symptoms.html]",['DO_infectious_disease_slim'],"['ICD10CM:A39.0', 'ICD9CM:036.0', 'MESH:D008585']",['DOID:9470']
2109,0080177,hepatic veno-occlusive disease,"""A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver."" [url:https\://en.wikipedia.org/wiki/Hepatic_veno-occlusive_disease]",['DO_rare_slim'],"['GARD:13004', 'ICD10CM:K76.5', 'MESH:D006504']",['DOID:272']
2111,0080179,haemophilus meningitis,"""A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection."" [url:https\://en.wikipedia.org/wiki/Haemophilus_meningitis]",['DO_infectious_disease_slim'],"['ICD10CM:G00.0', 'ICD9CM:320.0', 'MESH:D008583']",['DOID:9470']
2113,0080181,PHARC syndrome,"""A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24697911]",['DO_rare_slim'],"['OMIM:612674', 'ORDO:171848']",['DOID:225']
2119,0080187,chronic neutrophilic leukemia,"""A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene."" [url:https\://en.wikipedia.org/wiki/Chronic_neutrophilic_leukemia]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9963/3', 'NCI:C3179']",['DOID:1036']
2120,0080188,chronic myelomonocytic leukemia,"""A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood."" [url:https\://en.wikipedia.org/wiki/Chronic_myelomonocytic_leukemia, url:https\://www.ncbi.nlm.nih.gov/pubmed/30367269, url:https\://www.ncbi.nlm.nih.gov/pubmed/31093889]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:8225', 'ICDO:9945/3', 'NCI:C3178']",['DOID:1036']
2122,0080190,malignant epithelioid hemangioendothelioma,"""A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C3800]","['DO_cancer_slim', 'NCIthesaurus']",['NCI:C3800'],['DOID:0080189']
2123,0080191,PTEN hamartoma tumor syndrome,"""A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene."" [url:https\://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1488/, url:https\://www.ncbi.nlm.nih.gov/pubmed/22628360]","['DO_cancer_slim', 'DO_rare_slim']",['GARD:12800'],['DOID:225']
2125,0080193,superior semicircular canal dehiscence,"""An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus."" [url:https\://rarediseases.org/rare-diseases/superior-semicircular-canal-dehiscence/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10651428/, url:https\://www.ncbi.nlm.nih.gov/pubmed/28503164, url:https\://www.ncbi.nlm.nih.gov/pubmed/28790965]",['DO_rare_slim'],['ORDO:420402'],['DOID:2952']
2127,0080195,Marinesco-Sjogren syndrome,"""A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development."" [url:https\://ghr.nlm.nih.gov/condition/marinesco-sjogren-syndrome#synonyms, url:https\://www.omim.org/entry/248800?search=248800&highlight=248800]",['DO_rare_slim'],"['GARD:8341', 'OMIM:248800', 'ORDO:559']",['DOID:225']
2128,0080196,"mandibulofacial dysostosis, Guion-Almeida type","""A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay,  midface and malar hypoplasia."" [url:https\://rarediseases.info.nih.gov/diseases/10056/mandibulofacial-dysostosis-with-microcephaly, url:https\://www.ncbi.nlm.nih.gov/books/NBK214367/]",['DO_rare_slim'],"['GARD:10056', 'OMIM:610536', 'ORDO:79113']",['DOID:225']
2130,0080198,infantile histiocytoid cardiomyopathy,"""An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10960495]",['DO_rare_slim'],"['GARD:9511', 'OMIM:500000']",['DOID:0060036']
2131,0080199,colorectal carcinoma,"""A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C4978]",['NCIthesaurus'],"['EFO:1001951', 'MESH:D015179', 'NCI:C2955', 'UMLS_CUI:C0009402']",['DOID:9256']
2132,0080200,bilateral renal aplasia,"""A renal agenesis that is characterized by the absence of both kidneys at birth."" [url:https\://rarediseases.org/rare-diseases/renal-agenesis-bilateral/]",['DO_rare_slim'],['ORDO:1848'],['DOID:14766']
2133,0080201,Peters plus syndrome,"""A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability."" [url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=709, url:https\://en.wikipedia.org/wiki/Peters-plus_syndrome, url:https\://ghr.nlm.nih.gov/condition/peters-plus-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1464/, url:https\://www.ncbi.nlm.nih.gov/pubmed/25544610]",['DO_rare_slim'],"['GARD:8422', 'OMIM:261540']",['DOID:225']
2134,0080202,adenoid cystic carcinoma,"""An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells."" [url:http\://codes.iarc.fr/code/2592, url:https\://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma, url:https\://meshb.nlm.nih.gov/record/ui?ui=D003528]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5743', 'ICDO:8200/3', 'MESH:D003528', 'NCI:C2970']",['DOID:8858']
2135,0080204,renal hypoplasia,"""A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons."" [url:https\://www.nature.com/articles/pr2010138]",['DO_rare_slim'],['ORDO:93101'],['DOID:557']
2136,0080205,CAKUT,"""A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux."" [url:https\://www.jci.org/articles/view/95300, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468264/, url:https\://www.ncbi.nlm.nih.gov/pubmed/25313840]",['DO_rare_slim'],"['MESH:C566906', 'OMIM:PS610805', 'ORDO:93545']",['DOID:18']
2141,0080210,primary mediastinal B-cell lymphoma,"""A diffuse large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28318892]","['DO_cancer_slim', 'DO_rare_slim']","['ICD10CM:C85.2', 'ORDO:98838']",['DOID:0050745']
2142,0080211,nodal marginal zone lymphoma,"""A marginal zone B-cell lymphoma  which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C8863, url:https\://www.ncbi.nlm.nih.gov/pubmed/26989202]",['NCIthesaurus'],['NCI:C8863'],['DOID:0050748']
2144,0080213,punctate palmoplantar keratoderma type II,"""A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits."" [url:https\://pubmed.ncbi.nlm.nih.gov/8651714/]",['DO_rare_slim'],"['GARD:4439', 'OMIM:175860']",['DOID:0060361']
2147,0080216,duodenal atresia,"""An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum."" [url:https\://en.wikipedia.org/wiki/Duodenal_atresia]",['DO_rare_slim'],"['GARD:54', 'MESH:C535720', 'OMIM:223400']",['DOID:10486']
2149,0080218,primary spontaneous pneumothorax,"""A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung."" [url:https\://ghr.nlm.nih.gov/condition/primary-spontaneous-pneumothorax]",['DO_rare_slim'],"['GARD:4997', 'OMIM:173600']",['DOID:1673']
2151,0080222,pseudohypoparathyroidism type IB,"""A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/6301273, url:https\://www.ncbi.nlm.nih.gov/pubmed/6325502]",['DO_rare_slim'],"['GARD:10680', 'MESH:C548075', 'OMIM:603233', 'ORDO:94089']",['DOID:4184']
2152,0080223,epidermolytic palmoplantar keratoderma,"""A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7544663]",['DO_rare_slim'],"['GARD:2826', 'OMIM:144200', 'ORDO:2199']",['DOID:3390']
2153,0080224,autosomal dominant dystrophic epidermolysis bullosa,"""An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen."" [url:https\://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes]",['DO_rare_slim'],"['GARD:2139', 'OMIM:131750']",['DOID:4959']
2162,0080234,Clark-Baraitser syndrome,"""An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36."" [url:https\://pubmed.ncbi.nlm.nih.gov/27848077/]",['DO_rare_slim'],"['GARD:13584', 'MESH:C536208', 'OMIM:617752']",['DOID:0060307']
2229,0080301,atypical hemolytic-uremic syndrome,"""A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction."" [url:https\://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome#sourcesforpage, url:https\://rarediseases.info.nih.gov/diseases/8702/index#ref_2575, url:https\://www.ncbi.nlm.nih.gov/pubmed/29226095]",['DO_rare_slim'],"['GARD:8702', 'MESH:D065766', 'ORDO:2134']",['DOID:626']
2235,0080307,myofibrillar myopathy,"""A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles."" [url:https\://ghr.nlm.nih.gov/condition/myofibrillar-myopathy, url:https\://rarediseases.info.nih.gov/diseases/10529/myofibrillar-myopathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/23995273]",['DO_rare_slim'],"['GARD:10529', 'MESH:C580316', 'OMIM:PS601419']",['DOID:423']
2240,0080313,cleft palate-lateral synechia syndrome,"""A physical disorder that is characterized by fusion of maxilla and mandible."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24163560, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016]",['DO_rare_slim'],"['MESH:C563047', 'OMIM:119550', 'ORDO:2016', 'SNOMEDCT_US_2022_09_01:403772000', 'UMLS_CUI:C0795898']",['DOID:0080015']
2242,0080315,megalencephalic leukoencephalopathy with subcortical cysts,"""A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline."" [url:https\://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts]",['DO_rare_slim'],"['GARD:3445', 'MESH:C536141', 'OMIM:PS604004', 'ORDO:2478', 'SNOMEDCT_US_2022_09_01:703536004', 'UMLS_CUI:C1858854']",['DOID:10579']
2253,0080326,familial hypertrophic cardiomyopathy,"""A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations."" [url:https\://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy#genes]",['DO_rare_slim'],"['MESH:D024741', 'NCI:C84773', 'OMIM:PS192600', 'ORDO:217569', 'SNOMEDCT_US_2022_09_01:83978005', 'UMLS_CUI:C0949658']",['DOID:11984']
2255,0080328,Culler-Jones syndrome,"""A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=29298444]",['DO_rare_slim'],"['GARD:13349', 'OMIM:615849']",['DOID:225']
2259,0080332,bicuspid aortic valve disease,"""An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives."" [url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402075]",['DO_rare_slim'],"['MESH:D000082882', 'OMIM:PS109730', 'ORDO:402075']",['DOID:62']
2262,0080335,mitochondrial DNA depletion syndrome 12b,"""A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35."" [url:https\://ghr.nlm.nih.gov/gene/SLC25A4#conditions, url:https\://www.ncbi.nlm.nih.gov/pubmed/22187496, url:https\://www.ncbi.nlm.nih.gov/pubmed/27693233, url:https\://www.omim.org/entry/615418]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1142', 'NCI:C129977', 'OMIM:615418', 'ORDO:1369']",['DOID:0070329']
2267,0080342,Simpson-Golabi-Behmel syndrome type 2,"""A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16783569]",['DO_rare_slim'],['OMIM:300209'],['DOID:225']
2272,0080347,malignant pheochromocytoma,"""An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones."" [url:https\://www.omim.org/entry/171300]",['DO_cancer_slim'],['ICDO:8700/3'],['DOID:5719']
2274,0080349,developmental and epileptic encephalopathy 39,"""A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31."" [url:https\://pubmed.ncbi.nlm.nih.gov/19641205/, url:https\://pubmed.ncbi.nlm.nih.gov/24515575/, url:https\://www.omim.org/entry/612949?search=612949]",['DO_rare_slim'],"['MESH:C567847', 'OMIM:612949', 'ORDO:353217']",['DOID:0112202']
2276,0080351,CLOVES syndrome,"""A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activiating mutations in the PIK3CA gene on chromosome 3q26."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25209813]",['DO_rare_slim'],"['GARD:10939', 'ICD10CM:Q87.3', 'OMIM:612918', 'ORDO:140944']",['DOID:225']
2279,0080354,Phelan-McDermid syndrome,"""A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent.  The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development."" [url:https\://en.wikipedia.org/wiki/22q13_deletion_syndrome, url:https\://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1198/, url:https\://www.ncbi.nlm.nih.gov/pubmed/29719671, url:https\://www.ncbi.nlm.nih.gov/pubmed/29896732, url:https\://www.ncbi.nlm.nih.gov/pubmed/30089781, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=48652]",['DO_rare_slim'],"['GARD:10130', 'OMIM:606232', 'ORDO:48652']",['DOID:0060388']
2281,0080356,IgG4-related disease,"""An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs."" [url:https\://rarediseases.info.nih.gov/diseases/12521/index, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760655/, url:https\://www.nejm.org/doi/full/10.1056/NEJMra1104650]",['DO_rare_slim'],"['GARD:12521', 'ORDO:284264']",['DOID:417']
2286,0080361,trimethylaminuria,"""An inherited metabolic disorder characterized by the inabilty to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24."" [url:https\://ghr.nlm.nih.gov/condition/trimethylaminuria]",['DO_rare_slim'],"['GARD:6447', 'MESH:C536561', 'OMIM:602079', 'ORDO:468726']",['DOID:655']
2288,0080363,mitochondrial pyruvate carrier deficiency,"""A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22628558]",['DO_rare_slim'],"['OMIM:614741', 'ORDO:447784']",['DOID:700']
2290,0080365,endometrial hyperplasia,"""An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium."" [url:https\://en.wikipedia.org/wiki/Endometrial_hyperplasia]",['DO_cancer_slim'],['MESH:D004714'],['DOID:0060095']
2292,0080367,chronic eosinophilic leukemia,"""A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues."" [url:https\://ghr.nlm.nih.gov/condition/pdgfra-associated-chronic-eosinophilic-leukemia, url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/chronic-eosinophilic-leukemia]",['DO_cancer_slim'],"['ICDO:9964/3', 'NCI:C4563']",['DOID:1036']
2294,0080369,ovarian sex-cord stromal tumor,"""A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4862&ns=ncit]",['DO_cancer_slim'],['NCI:C4862'],['DOID:192']
2301,0080376,trichorhinophalangeal syndrome type III,"""A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23."" [url:https\://rarediseases.info.nih.gov/diseases/7802/disease]",['DO_rare_slim'],"['OMIM:190351', 'ORDO:77258']",['DOID:225']
2312,0080388,nephrotic syndrome type 7,"""A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23274426]",['DO_rare_slim'],"['OMIM:615008', 'ORDO:329903']",['DOID:2590']
2314,0080390,nephrotic syndrome type 1,"""A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10577936, url:https\://www.ncbi.nlm.nih.gov/pubmed/9660941]",['DO_rare_slim'],"['GARD:1500', 'MEDDRA:10060740', 'NCI:C122795', 'OMIM:256300', 'ORDO:839', 'SNOMEDCT_US_2022_09_01:197601003', 'UMLS_CUI:C0403399']",['DOID:2590']
2334,0080410,familial adenomatous polyposis 2,"""A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12853198]",['DO_rare_slim'],"['ICD10CM:D12.6', 'OMIM:608456', 'ORDO:247798']",['DOID:0050424']
2337,0080413,developmental and epileptic encephalopathy 18,"""A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23932106]",['DO_rare_slim'],"['GARD:13676', 'OMIM:615476']",['DOID:0112202']
2339,0080415,developmental and epileptic encephalopathy 23,"""A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24814191]",['DO_rare_slim'],"['OMIM:615859', 'ORDO:411986']",['DOID:0112202']
2343,0080419,developmental and epileptic encephalopathy 50,"""A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28007989]",['DO_rare_slim'],"['GARD:13621', 'OMIM:616457', 'ORDO:448010']",['DOID:0112202']
2346,0080422,Dravet syndrome,"""A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24."" [url:https\://pubmed.ncbi.nlm.nih.gov/27544470/, url:https\://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/11359211]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:10430', 'OMIM:607208', 'ORDO:33069']",['DOID:0112202']
2372,0080449,developmental and epileptic encephalopathy 16,"""A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21087195, url:https\://www.ncbi.nlm.nih.gov/pubmed/23526554]",['DO_rare_slim'],"['OMIM:615338', 'ORDO:352596']",['DOID:0112202']
2376,0080453,developmental and epileptic encephalopathy 25,"""A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13."" [url:https\://pubmed.ncbi.nlm.nih.gov/27600704/, url:https\://www.ncbi.nlm.nih.gov/pubmed/24995870]",['DO_rare_slim'],"['GARD:12901', 'OMIM:615905']",['DOID:0112202']
2381,0080458,developmental and epileptic encephalopathy 35,"""A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26224535]",['DO_rare_slim'],"['OMIM:616647', 'ORDO:457375']",['DOID:0112202']
2384,0080461,developmental and epileptic encephalopathy 26,"""A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25164438]",['DO_rare_slim'],"['GARD:12391', 'OMIM:616056']",['DOID:0112202']
2385,0080462,developmental and epileptic encephalopathy 7,"""A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15249611]",['DO_rare_slim'],"['OMIM:613720', 'ORDO:439218']",['DOID:0112202']
2391,0080470,developmental and epileptic encephalopathy 36,"""A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23033978, url:https\://www.ncbi.nlm.nih.gov/pubmed/26138355]",['DO_rare_slim'],"['GARD:12401', 'OMIM:300884', 'ORDO:324422']",['DOID:0112202']
2395,0080474,pustular psoriasis 14,"""A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21848462]",['DO_rare_slim'],"['ICD10CM:L40.1', 'OMIM:614204', 'ORDO:404546']",['DOID:8893']
2410,0080489,GM1 gangliosidosis type 3,"""A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/404231]",['DO_rare_slim'],"['GARD:2431', 'OMIM:230650', 'ORDO:79257']",['DOID:3322']
2411,0080490,mucolipidosis type IV,"""A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time."" [url:https\://en.wikipedia.org/wiki/Mucolipidosis_type_IV, url:https\://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv]",['DO_rare_slim'],"['GARD:94', 'OMIM:252650', 'ORDO:578']",['DOID:0080488']
2413,0080492,leukocyte adhesion deficiency 2,"""A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit."" [url:https\://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/, url:https\://www.ncbi.nlm.nih.gov/books/NBK539770/]",['DO_rare_slim'],['ORDO:99843'],['DOID:6612']
2423,0080502,GM1 gangliosidosis type 1,"""A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death."" [url:https\://omim.org/entry/230500]",['DO_rare_slim'],"['GARD:6479', 'OMIM:230500', 'ORDO:79255']",['DOID:3322']
2440,0080519,PAPA syndrome,"""A syndrome that is characterised by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24."" [url:https\://en.wikipedia.org/wiki/PAPA_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/28236224, url:https\://www.ncbi.nlm.nih.gov/pubmed/28251506]",['DO_rare_slim'],"['OMIM:604416', 'ORDO:69126']",['DOID:225']
2443,0080522,thyroid gland anaplastic carcinoma,"""A thyroid gland carcinoma that is composed of undifferentiated cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28707679]",['DO_cancer_slim'],['NCI:C3878'],['DOID:3963']
2444,0080523,adult-onset leukoencephalopathy with axonal spheroids and pigmented glia,"""A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27680516, url:https\://www.ncbi.nlm.nih.gov/pubmed/28921817]",['DO_rare_slim'],"['GARD:10981', 'OMIM:221820', 'ORDO:313808']",['DOID:10579']
2445,0080524,thyroid gland adenocarcinoma,"""A thyroid gland carcinoma that derives_from epithelial cells of glandular origin."" [url:https\://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf]","['DO_cancer_slim', 'NCIthesaurus']",['NCI:C27380'],['DOID:3963']
2446,0080525,differentiated thyroid gland carcinoma,"""A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7153&ns=ncit]","['DO_cancer_slim', 'NCIthesaurus']",['NCI:C7153'],['DOID:0080524']
2451,0080531,dedifferentiated liposarcoma,"""A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211889/, url:https\://www.ncbi.nlm.nih.gov/pubmed/26645460]","['DO_cancer_slim', 'DO_rare_slim']","['ICDO:8858/3', 'NCI:C3704', 'ORDO:99970']",['DOID:3382']
2452,0080532,Smarca4-deficient sarcoma of thorax,"""A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors  (BAF chromatin remodeling complex)."" [url:https\://ghr.nlm.nih.gov/gene/SMARCA4#conditions, url:https\://www.nature.com/articles/modpathol201761.pdf?origin=ppub, url:https\://www.ncbi.nlm.nih.gov/pubmed/26343384]",['DO_rare_slim'],['ORDO:466962'],['DOID:5093']
2453,0080533,Carney-Stratakis syndrome,"""A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors."" [url:https\://rarediseases.info.nih.gov/diseases/10643/index, url:https\://www.ncbi.nlm.nih.gov/pubmed/31174229]",['DO_rare_slim'],"['GARD:10643', 'MESH:C564650', 'OMIM:606864', 'ORDO:97286']",['DOID:225']
2454,0080534,myxofibrosarcoma,"""A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma."" [url:https\://www.mayoclinic.org/diseases-conditions/myxofibrosarcoma/cdc-20387740, url:https\://www.ncbi.nlm.nih.gov/pubmed/27591498]","['DO_cancer_slim', 'DO_rare_slim']","['ICDO:8811/3', 'NCI:C6496', 'ORDO:79105']",['DOID:1115']
2459,0080539,PEHO syndrome,"""A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss."" [url:https\://en.wikipedia.org/wiki/PEHO_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/28335020, url:https\://www.ncbi.nlm.nih.gov/pubmed/30385166, url:https\://www.ncbi.nlm.nih.gov/pubmed/31048081]",['DO_rare_slim'],"['GARD:4264', 'MESH:C536317', 'OMIM:260565', 'ORDO:2836']",['DOID:936']
2460,0080540,galactosialidosis,"""A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13."" [url:https\://ghr.nlm.nih.gov/condition/galactosialidosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/28603679]",['DO_rare_slim'],"['GARD:3953', 'OMIM:256540']",['DOID:3211']
2461,0080541,hyperprolinemia,"""An amno acid metabolic disorder that is characterized by the excess of proline in the blood."" [url:https\://en.wikipedia.org/wiki/Hyperprolinemia, url:https\://ghr.nlm.nih.gov/condition/hyperprolinemia]",['DO_rare_slim'],['GARD:2847'],['DOID:9252']
2462,0080542,hyperprolinemia type 1,"""A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11."" [url:https\://ghr.nlm.nih.gov/condition/hyperprolinemia]",['DO_rare_slim'],"['OMIM:239500', 'ORDO:419']",['DOID:0080541']
2463,0080543,hyperprolinemia type 2,"""A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36."" [url:https\://ghr.nlm.nih.gov/condition/hyperprolinemia]",['DO_rare_slim'],"['MESH:C538385', 'OMIM:239510', 'ORDO:79101']",['DOID:0080541']
2465,0080545,hyper IgE syndrome,"""A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs."" [url:https\://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome#synonyms]",['DO_rare_slim'],"['GARD:10956', 'OMIM:PS147060']",['DOID:2959']
2471,0080551,Naxos disease,"""A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21."" [url:https\://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair#genes, url:https\://rarediseases.info.nih.gov/diseases/9795/disease, url:https\://www.ncbi.nlm.nih.gov/pubmed/29747658]",['DO_rare_slim'],"['GARD:9795', 'MESH:C538346', 'OMIM:601214', 'ORDO:34217']",['DOID:0050428']
2472,0080552,congenital disorder of glycosylation Ia,"""A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13."" [url:https\://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation]",['DO_rare_slim'],"['GARD:9826', 'OMIM:212065', 'ORDO:79318']",['DOID:0050570']
2474,0080554,congenital disorder of glycosylation Ib,"""A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24."" [url:https\://www.omim.org/entry/602579]",['DO_rare_slim'],"['GARD:9830', 'OMIM:602579', 'ORDO:79319']",['DOID:0050570']
2475,0080555,congenital disorder of glycosylation Ic,"""A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31."" [url:https\://ghr.nlm.nih.gov/condition/alg6-congenital-disorder-of-glycosylation, url:https\://www.ncbi.nlm.nih.gov/pubmed/16007612]",['DO_rare_slim'],"['GARD:9829', 'OMIM:603147', 'ORDO:79320']",['DOID:0050570']
2476,0080556,congenital disorder of glycosylation Id,"""A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28108845]",['DO_rare_slim'],"['GARD:9827', 'OMIM:601110', 'ORDO:79321']",['DOID:0050570']
2477,0080557,congenital disorder of glycosylation Ie,"""A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23856421]",['DO_rare_slim'],"['GARD:9831', 'OMIM:608799', 'ORDO:79322']",['DOID:0050570']
2478,0080558,congenital disorder of glycosylation If,"""A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11733556]",['DO_rare_slim'],"['GARD:9832', 'OMIM:609180', 'ORDO:79323']",['DOID:0050570']
2479,0080559,congenital disorder of glycosylation Ig,"""A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13."" [url:https\://ghr.nlm.nih.gov/condition/alg12-congenital-disorder-of-glycosylation, url:https\://www.ncbi.nlm.nih.gov/pubmed/17506107]",['DO_rare_slim'],"['GARD:9833', 'OMIM:607143', 'ORDO:79324']",['DOID:0050570']
2480,0080560,congenital disorder of glycosylation Ih,"""A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28108845]",['DO_rare_slim'],"['GARD:9834', 'OMIM:608104', 'ORDO:79325']",['DOID:0050570']
2481,0080561,congenital disorder of glycosylation Ii,"""A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12684507]",['DO_rare_slim'],"['GARD:9836', 'OMIM:607906', 'ORDO:79326']",['DOID:0050570']
2482,0080562,congenital disorder of glycosylation Ij,"""A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12872255]",['DO_rare_slim'],"['GARD:9837', 'OMIM:608093', 'ORDO:86309']",['DOID:0050570']
2483,0080563,congenital disorder of glycosylation Ik,"""A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13."" [url:https\://ghr.nlm.nih.gov/condition/alg1-congenital-disorder-of-glycosylation, url:https\://www.ncbi.nlm.nih.gov/pubmed/28108845]",['DO_rare_slim'],"['GARD:9838', 'OMIM:608540', 'ORDO:79327']",['DOID:0050570']
2484,0080564,congenital disorder of glycosylation Il,"""A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26453364]",['DO_rare_slim'],"['GARD:9839', 'OMIM:608776', 'ORDO:79328']",['DOID:0050570']
2485,0080565,congenital disorder of glycosylation Im,"""A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34."" [url:https\://ghr.nlm.nih.gov/condition/dolk-congenital-disorder-of-glycosylation, url:https\://www.ncbi.nlm.nih.gov/pubmed/17273964]",['DO_rare_slim'],"['GARD:12393', 'OMIM:610768', 'ORDO:91131']",['DOID:0050570']
2486,0080566,congenital disorder of glycosylation In,"""A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23111317]",['DO_rare_slim'],"['GARD:12394', 'OMIM:612015', 'ORDO:244310']",['DOID:0050570']
2487,0080567,congenital disorder of glycosylation Ip,"""A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22213132]",['DO_rare_slim'],"['GARD:12396', 'OMIM:613661', 'ORDO:280071']",['DOID:0050570']
2488,0080568,congenital disorder of glycosylation Iq,"""A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20637498]",['DO_rare_slim'],"['GARD:12397', 'OMIM:612379', 'ORDO:324737']",['DOID:0050570']
2489,0080569,congenital disorder of glycosylation Ir,"""A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22305527]",['DO_rare_slim'],"['GARD:12398', 'OMIM:614507', 'ORDO:300536']",['DOID:0050570']
2490,0080570,congenital disorder of glycosylation It,"""A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24499211]",['DO_rare_slim'],"['OMIM:614921', 'ORDO:319646']",['DOID:0050570']
2491,0080571,congenital disorder of glycosylation Iu,"""A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23109149]",['DO_rare_slim'],"['GARD:12416', 'OMIM:615042', 'ORDO:329178']",['DOID:0050570']
2492,0080572,congenital disorder of glycosylation Iw,"""A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23842455]",['DO_rare_slim'],"['OMIM:615596', 'ORDO:370921']",['DOID:0050570']
2493,0080573,congenital disorder of glycosylation Ix,"""A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23842455]",['DO_rare_slim'],"['OMIM:615597', 'ORDO:370924']",['DOID:0050570']
2494,0080574,congenital disorder of glycosylation Iy,"""A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26264460]",['DO_rare_slim'],"['GARD:12405', 'OMIM:300934', 'ORDO:370927']",['DOID:0050570']
2495,0080575,Larsen-like syndrome B3GAT3 type,"""A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654953/, url:https\://www.ncbi.nlm.nih.gov/pubmed/25893793]",['DO_rare_slim'],"['OMIM:245600', 'ORDO:284139']",['DOID:225']
2496,0080576,"spondyloepimetaphyseal dysplasia, Genevieve-type","""A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27213289]",['DO_rare_slim'],"['GARD:10057', 'MESH:C535785', 'OMIM:610442', 'ORDO:168454']",['DOID:0080027']
2512,0080592,Klippel-Feil syndrome 4,"""A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25748484]",['DO_rare_slim'],"['OMIM:616549', 'ORDO:447974']",['DOID:10426']
2514,0080594,hyper IgE recurrent infection syndrome 2,"""A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24."" [url:https\://ghr.nlm.nih.gov/condition/dock8-immunodeficiency-syndrome#synonyms, url:https\://www.ncbi.nlm.nih.gov/pubmed/19776401]",['DO_rare_slim'],"['GARD:2816', 'OMIM:243700', 'ORDO:217390']",['DOID:0080545']
2517,0080597,Kleefstra syndrome,"""A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone."" [url:http\://ghr.nlm.nih.gov/condition/kleefstra-syndrome]",['DO_FlyBase_slim'],['OMIM:PS610253'],['DOID:225']
2518,0080598,Kleefstra syndrome 2,"""A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/29069077]",['DO_rare_slim'],"['OMIM:617768', 'ORDO:261652']",['DOID:0080597']
2520,0080600,COVID-19,"""A Coronavirus infection that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2."" [url:https\://www.cdc.gov/coronavirus/2019-ncov/about/index.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=32007143, url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=32007145, url:https\://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=2697049, url:https\://www.who.int/emergencies/diseases/novel-coronavirus-2019]",['DO_infectious_disease_slim'],"['ICD10CM:U07.1', 'MESH:D000086382', 'NCI:C171133', 'SNOMEDCT_US_2022_09_01:840539006', 'UMLS_CUI:C5203670']",['DOID:0080599']
2522,0080602,benign teratoma,"""A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C67107&ns=ncit]",['DO_cancer_slim'],"['ICDO:9080/1', 'NCI:C67107']",['DOID:0080601']
2546,0080626,corticosterone methyloxidase deficiency 1,"""An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life."" [url:https\://ghr.nlm.nih.gov/condition/corticosterone-methyloxidase-deficiency]",['DO_rare_slim'],"['OMIM:203400', 'ORDO:427']",['DOID:9553']
2547,0080627,alopecia-mental retardation syndrome,"""A syndrome that is characterized by loss of hair on the scalp, absence of eyebrows, eyelashes, and axillary and pubic hair, and mild to severe mental retardation."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17451405]",['DO_rare_slim'],"['GARD:612', 'OMIM:PS203650', 'ORDO:2850']",['DOID:225']
2550,0080630,B-lymphoblastic leukemia/lymphoma,"""A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow."" [url:https\://en.wikipedia.org/wiki/Precursor_B-cell_lymphoblastic_leukemia]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9836/3', 'NCI:C8936', 'SNOMEDCT_US_2022_09_01:1162660006', 'UMLS_CUI:C0862030']",['DOID:0080638']
2551,0080631,Elsahy-Waters syndrome,"""A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20949527]",['DO_rare_slim'],"['GARD:955', 'OMIM:211380', 'ORDO:1299']",['DOID:225']
2554,0080634,nanophthalmos,"""A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma."" [url:https\://eyewiki.aao.org/Nanophthalmos]",['DO_rare_slim'],"['OMIM:600165', 'OMIM:609549', 'OMIM:611897', 'OMIM:615972', 'OMIM:PS600165', 'ORDO:35612']",['DOID:10629']
2558,0080638,B-cell acute lymphoblastic leukemia,"""An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood."" [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/b-cell-acute-lymphoblastic-leukemia]",['DO_cancer_slim'],['NCI:C8644'],['DOID:9952']
2563,0080643,B-lymphoblastic leukemia/lymphoma with BCR-ABL1,"""A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80331]",['DO_cancer_slim'],"['ICDO:9812/3', 'NCI:C80331']",['DOID:0080630']
2564,0080644,B-lymphoblastic leukemia/lymphoma MLL rearranged,"""A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80342]",['DO_cancer_slim'],"['ICDO:9813/3', 'NCI:C80342']",['DOID:0080630']
2565,0080645,B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1,"""A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80343]",['DO_cancer_slim'],"['ICDO:9814/3', 'NCI:C80343']",['DOID:0080630']
2566,0080646,B-lymphoblastic leukemia/lymphoma with hyperdiploidy,"""A B-lymphoblastic leukemia/lymphoma that is  composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80335]",['DO_cancer_slim'],"['ICDO:9815/3', 'NCI:C80335']",['DOID:0080630']
2567,0080647,B-lymphoblastic leukemia/lymphoma with hypodiploidy,"""A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80338]",['DO_cancer_slim'],"['ICDO:9816/3', 'NCI:C80338']",['DOID:0080630']
2568,0080648,B-lymphoblastic leukemia/lymphoma with IL3-IGH,"""A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3)."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80346]",['DO_cancer_slim'],"['ICDO:9817/3', 'NCI:C80346']",['DOID:0080630']
2569,0080649,B-lymphoblastic leukemia/lymphoma with TCF3-PBX1,"""A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80347]",['DO_cancer_slim'],"['ICDO:9818/3', 'NCI:C80347']",['DOID:0080630']
2570,0080650,"B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like","""A B-lymphoblastic leukemia/lymphoma that has a gene expression profile similar to that of B-ALL with t(9;22)(q34.1;q11.2) BCR-ABL1, but lacks that gene fusion."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/31069976]",['DO_cancer_slim'],['ICDO:9819/3'],['DOID:0080630']
2571,0080651,B-lymphoblastic leukemia/lymphoma with iAMP21,"""A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C130039]",['DO_cancer_slim'],['NCI:C130039'],['DOID:0080630']
2576,0080656,"45,X/46,XY mixed gonadal dysgenesis","""A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY."" [url:https\://en.wikipedia.org/wiki/45\,X/46\,XY_mosaicism]",['DO_rare_slim'],"['NCI:C120199', 'ORDO:1772']",['DOID:14449']
2578,0080662,atrial standstill 1,"""A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16176547]",['DO_rare_slim'],"['OMIM:108770', 'ORDO:1344']",['DOID:10273']
2580,0080664,diaphyseal medullary stenosis with malignant fibrous histiocytoma,"""An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21."" [url:https\://pubmed.ncbi.nlm.nih.gov/8781110, url:https\://www.ncbi.nlm.nih.gov/pubmed/22464254]",['DO_rare_slim'],"['GARD:10072', 'MESH:C536169', 'NCI:C122660', 'OMIM:112250', 'ORDO:85182']",['DOID:2256']
2581,0080665,warfarin resistance,"""An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin."" [url:https\://ghr.nlm.nih.gov/condition/warfarin-resistance]",['DO_rare_slim'],"['GARD:12721', 'OMIM:122700']",['DOID:655']
2591,0080676,Stickler syndrome 1,"""A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13."" [url:https\://pubmed.ncbi.nlm.nih.gov/21671392/]",['DO_rare_slim'],"['OMIM:108300', 'ORDO:90653']",['DOID:0080046']
2593,0080678,mucolipidosis III gamma,"""A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay."" [url:https\://pubmed.ncbi.nlm.nih.gov/10712439/]",['DO_rare_slim'],"['MESH:C565367', 'OMIM:252605', 'ORDO:423470']",['DOID:0080488']
2596,0080681,X-linked chronic idiopathic intestinal pseudo-obstruction,"""An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28."" [url:https\://pubmed.ncbi.nlm.nih.gov/8644737/]",['DO_rare_slim'],"['GARD:3017', 'OMIM:300048']",['DOID:0080072']
2599,0080684,"diffuse midline glioma, H3 K27M-mutant","""A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system."" [url:https\://braintumor.org/wp-content/assets/WHO-Central-Nervous-System-Tumor-Classification.pdf, url:https\://pubmed.ncbi.nlm.nih.gov/31290035/, url:https\://www.frontiersin.org/articles/10.3389/fonc.2019.00031/full]",['DO_cancer_slim'],"['ICDO:9385/3', 'NCI:C129309']",['DOID:0080879']
2603,0080688,mosaic variegated aneuploidy syndrome,"""A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes."" [url:https\://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome]",['DO_rare_slim'],"['GARD:3007', 'MESH:C536987', 'OMIM:PS257300', 'ORDO:1052']",['DOID:225']
2606,0080691,Noonan syndrome-like disorder with loose anagen hair,"""A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay."" [url:https\://rarediseases.info.nih.gov/diseases/10719/disease]",['DO_rare_slim'],"['GARD:10719', 'ORDO:2701']",['DOID:0080690']
2609,0080694,Galloway-Mowat syndrome,"""A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy."" [url:https\://en.wikipedia.org/wiki/Galloway_Mowat_syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/20083416/, url:https\://www.ncbi.nlm.nih.gov/pubmed/26123727]",['DO_rare_slim'],"['GARD:65', 'MESH:C537548', 'NCI:C132195', 'OMIM:PS251300', 'ORDO:2065', 'SNOMEDCT_US_2022_09_01:721297008', 'UMLS_CUI:C0795949']",['DOID:225']
2610,0080695,Burn-McKeown syndrome,"""A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism, \nhearing loss, heart abnormalities, and short stature."" [url:https\://ghr.nlm.nih.gov/condition/burn-mckeown-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK373577/]",['DO_rare_slim'],"['GARD:10041', 'MESH:C537411', 'OMIM:608572', 'ORDO:1200']",['DOID:225']
2611,0080696,Winchester syndrome,"""A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet."" [url:https\://ghr.nlm.nih.gov/condition/winchester-syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/29741626/]",['DO_rare_slim'],"['GARD:7894', 'MESH:C536709', 'OMIM:277950']",['DOID:225']
2612,0080697,Opitz GBBB syndrome,"""A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22."" [url:http\://www.genome.jp/dbget-bin/www_bget?ds\:H00583, url:http\://www.ncbi.nlm.nih.gov/books/NBK1327/, url:http\://www.ncbi.nlm.nih.gov/books/NBK1523/, url:https\://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome, url:https\://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome/, url:https\://pubmed.ncbi.nlm.nih.gov/15558842/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1327/]","['DO_MGI_slim', 'DO_rare_slim']","['GARD:193', 'KEGG:H00583', 'OMIM:300000']",['DOID:225']
2613,0080698,Teebi hypertelorism syndrome 1,"""A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/25412741/, url:https\://pubmed.ncbi.nlm.nih.gov/30472488/, url:https\://pubmed.ncbi.nlm.nih.gov/31953237/]",['DO_rare_slim'],"['OMIM:145420', 'ORDO:1519']",['DOID:0081073']
2614,0080699,glutathione synthetase deficiency,"""An amino acid metabolic disorder characterized by the lack of glutathione production."" [url:https\://ghr.nlm.nih.gov/condition/glutathione-synthetase-deficiency, url:https\://pubmed.ncbi.nlm.nih.gov/31198081/]",['DO_rare_slim'],"['GARD:10047', 'MESH:C536835']",['DOID:9252']
2617,0080702,medulloblastoma WNT activated,"""A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent."" [url:https\://pubmed.ncbi.nlm.nih.gov/29582169/, url:https\://radiopaedia.org/articles/medulloblastoma-wnt-subgroup?lang=us]",['DO_cancer_slim'],"['ICDO:9475/3', 'NCI:C129440']",['DOID:0050902']
2618,0080703,medulloblastoma SHH activated,"""A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent."" [url:https\://onlinelibrary.wiley.com/doi/full/10.1002/acn3.762, url:https\://pubmed.ncbi.nlm.nih.gov/29582169/, url:https\://radiopaedia.org/articles/medulloblastoma-shh-subgroup?lang=us]",['DO_cancer_slim'],['NCI:C129441'],['DOID:0050902']
2619,0080704,medulloblastoma SHH activated and TP53 mutant,"""A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations."" [url:https\://ascopubs.org/doi/10.1200/JCO.2012.48.5052, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490254/]",['DO_cancer_slim'],"['ICDO:9476/3', 'NCI:C129442']",['DOID:0080703']
2620,0080705,medulloblastoma SHH activated and TP53 wild-type,"""A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743072/]",['DO_cancer_slim'],"['ICDO:9471/3', 'NCI:C129443']",['DOID:0080703']
2621,0080706,medulloblastoma non-WNT/non-SHH,"""A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent."" [url:https\://pubmed.ncbi.nlm.nih.gov/30392813/]",['DO_cancer_slim'],"['ICDO:9477/3', 'NCI:C129444']",['DOID:0050902']
2622,0080707,medulloblastoma non-WNT/non-SHH group 3,"""A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present."" [url:https\://pubmed.ncbi.nlm.nih.gov/29427151/, url:https\://pubmed.ncbi.nlm.nih.gov/30876441/]",['DO_cancer_slim'],['NCI:C129445'],['DOID:0080706']
2623,0080708,medulloblastoma non-WNT/non-SHH group 4,"""A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations and chromosome 17 abnormalities that may be present."" [url:https\://pubmed.ncbi.nlm.nih.gov/29427151/]",['DO_cancer_slim'],['NCI:C129446'],['DOID:0080706']
2628,0080714,hereditary alpha tryptasemia syndrome,"""A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems."" [url:https\://pubmed.ncbi.nlm.nih.gov/27749843/, url:https\://pubmed.ncbi.nlm.nih.gov/30007465/, url:https\://rarediseases.info.nih.gov/diseases/13193/hereditary-alpha-tryptasemia-syndrome]",['DO_rare_slim'],['GARD:13193'],['DOID:225']
2630,0080716,infantile liver failure syndrome,"""A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate."" [url:https\://rarediseases.info.nih.gov/diseases/13114/disease]",['DO_rare_slim'],"['OMIM:PS615438', 'ORDO:370088']",['DOID:225']
2631,0080717,infantile liver failure syndrome 1,"""An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32."" [url:https\://pubmed.ncbi.nlm.nih.gov/22607940/]",['DO_rare_slim'],"['GARD:13114', 'OMIM:615438']",['DOID:0080716']
2632,0080718,GNE myopathy,"""A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis."" [url:https\://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2, url:https\://pubmed.ncbi.nlm.nih.gov/29720219/, url:https\://pubmed.ncbi.nlm.nih.gov/30338442/, url:https\://rarediseases.org/rare-diseases/gne-myopathy/, url:https\://www.genome.gov/Current-NHGRI-Clinical-Studies/GNE-Myopathy]",['DO_rare_slim'],"['GARD:9493', 'MESH:C536816', 'MESH:C538329', 'NCI:C176900', 'OMIM:605820', 'ORDO:602', 'SNOMEDCT_US_2022_09_01:702382000', 'UMLS_CUI:C1833373', 'UMLS_CUI:C1853926']",['DOID:423']
2633,0080719,congenital myopathy 6,"""A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13."" [url:https\://pubmed.ncbi.nlm.nih.gov/24193343/]",['DO_rare_slim'],"['GARD:9494', 'OMIM:605637', 'ORDO:79091']",['DOID:0081337']
2634,0080720,autosomal dominant congenital deafness with onychodystrophy,"""A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21."" [url:https\://pubmed.ncbi.nlm.nih.gov/28396750/]",['DO_rare_slim'],"['GARD:4732', 'OMIM:124480']",['DOID:225']
2635,0080721,calvarial doughnut lesions with bone fragility,"""An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483641/]",['DO_rare_slim'],"['OMIM:126550', 'ORDO:85192']",['DOID:2256']
2636,0080722,Kenny-Caffey syndrome type 1,"""A Kenny-Caffey syndrome that has_material_basis_in mutation in the gene encoding tubulin-specific chaperone E."" [url:https\://pubmed.ncbi.nlm.nih.gov/9806825/]",['DO_rare_slim'],"['GARD:8367', 'OMIM:244460', 'ORDO:93324']",['DOID:0080724']
2637,0080723,Kenny-Caffey syndrome type 2,"""A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12."" [url:https\://pubmed.ncbi.nlm.nih.gov/23996431/]",['DO_rare_slim'],"['GARD:83', 'OMIM:127000', 'ORDO:93325']",['DOID:0080724']
2638,0080724,Kenny-Caffey syndrome,"""A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia."" [url:https\://en.wikipedia.org/wiki/Kenny-Caffey_syndrome]",['DO_rare_slim'],"['OMIM:PS127000', 'ORDO:2333']",['DOID:225']
2639,0080725,BASAN syndrome,"""An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet."" [url:https\://pubmed.ncbi.nlm.nih.gov/8340514/]",['DO_rare_slim'],"['GARD:2336', 'KEGG:H02296', 'MESH:C537659', 'OMIM:129200', 'ORDO:1658']",['DOID:2121']
2655,0080741,limbic encephalitis,"""An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6520067/]",['DO_rare_slim'],"['GARD:8742', 'MESH:D020363']",['DOID:9588']
2658,0080744,antisynthetase syndrome,"""An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases."" [url:https\://en.wikipedia.org/wiki/Antisynthetase_syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/27594777/]",['DO_rare_slim'],"['GARD:735', 'MESH:C537778', 'ORDO:81']",['DOID:417']
2659,0080745,polymyositis,"""A myositis that is characterized by muscle weakness affecting both sides of your body."" [url:https\://my.clevelandclinic.org/health/diseases/12053-polymyositis, url:https\://www.mayoclinic.org/diseases-conditions/polymyositis/symptoms-causes/syc-20353208]",['DO_rare_slim'],"['GARD:7425', 'MESH:D017285']",['DOID:633']
2667,0080753,keratosis follicularis spinulosa decalvans,"""A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639957/]",['DO_rare_slim'],['ORDO:2340'],['DOID:0080751']
2668,0080754,X-linked keratosis follicularis spinulosa decalvans,"""A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene."" [url:https\://pubmed.ncbi.nlm.nih.gov/18984066/]",['DO_rare_slim'],"['GARD:6829', 'OMIM:308800']",['DOID:0080753']
2670,0080756,atrophoderma vermiculata,"""A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead."" [url:https\://pubmed.ncbi.nlm.nih.gov/19326693/]",['DO_rare_slim'],"['GARD:9744', 'OMIM:209700', 'ORDO:79100']",['DOID:0080751']
2677,0080763,diffuse gastric cancer,"""A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining."" [url:https\://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer]",['DO_rare_slim'],['GARD:10334'],['DOID:10534']
2678,0080764,hereditary diffuse gastric cancer,"""A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes."" [url:https\://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer, url:https\://pubmed.ncbi.nlm.nih.gov/20591882/, url:https\://rarediseases.info.nih.gov/diseases/10900/disease]",['DO_rare_slim'],"['GARD:10900', 'OMIM:137215']",['DOID:0080763']
2681,0080767,autoimmune myocarditis,"""An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5706653/]",['DO_rare_slim'],['GARD:9519'],['DOID:0060051']
2682,0080768,pyridoxine-dependent epilepsy,"""An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine."" [url:https\://ghr.nlm.nih.gov/condition/pyridoxine-dependent-epilepsy, url:https\://pubmed.ncbi.nlm.nih.gov/29053735/, url:https\://pubmed.ncbi.nlm.nih.gov/30043187/, url:https\://pubmed.ncbi.nlm.nih.gov/30154848/, url:https\://pubmed.ncbi.nlm.nih.gov/30668673/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1486/]",['DO_rare_slim'],"['GARD:9298', 'MESH:C536254', 'OMIM:266100', 'ORDO:3006']",['DOID:1826']
2685,0080771,beta-thalassemia major,"""A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age."" [url:https\://ghr.nlm.nih.gov/condition/beta-thalassemia, url:https\://pubmed.ncbi.nlm.nih.gov/12480689/, url:https\://www.ncbi.nlm.nih.gov/pubmed/19258591]",['DO_rare_slim'],"['NCI:C129699', 'OMIM:187550', 'ORDO:231214']",['DOID:12241']
2686,0080772,beta-thalassemia intermedia,"""A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life."" [url:https\://ghr.nlm.nih.gov/condition/beta-thalassemia]",['DO_rare_slim'],['ORDO:231222'],['DOID:12241']
2687,0080773,delta beta-thalassemia,"""A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild."" [url:https\://pubmed.ncbi.nlm.nih.gov/30706898/, url:https\://pubmed.ncbi.nlm.nih.gov/31444804/]",['DO_rare_slim'],"['NCI:C172823', 'ORDO:231237']",['DOID:12241']
2689,0080775,complete androgen insensitivity syndrome,"""An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus."" [url:https\://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome]",['DO_rare_slim'],"['ICD10CM:E34.51', 'MESH:D013734', 'NCI:C120191', 'ORDO:99429', 'SNOMEDCT_US_2022_09_01:267486007', 'UMLS_CUI:C0936016']",['DOID:4674']
2690,0080776,partial androgen insensitivity syndrome,"""An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action."" [url:https\://pubmed.ncbi.nlm.nih.gov/26303084/]",['DO_rare_slim'],"['GARD:5692', 'OMIM:312300', 'ORDO:90797']",['DOID:4674']
2692,0080778,transient infantile liver failure,"""A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13."" [url:https\://pubmed.ncbi.nlm.nih.gov/19732863/, url:https\://pubmed.ncbi.nlm.nih.gov/21931168/, url:https\://pubmed.ncbi.nlm.nih.gov/27689697/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045200/]",['DO_rare_slim'],"['GARD:10593', 'OMIM:613070', 'ORDO:217371']",['DOID:409']
2693,0080779,plasmablastic lymphoma,"""A diffuse large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467349/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430862/]",['DO_cancer_slim'],"['ICDO:9735/3', 'MESH:D000069293', 'NCI:C7224']",['DOID:0050745']
2697,0080784,urinary tract infection,"""An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra."" [url:https\://medlineplus.gov/urinarytractinfections.html, url:https\://www.cdc.gov/antibiotic-use/community/for-patients/common-illnesses/uti.html, url:https\://www.mayoclinic.org/diseases-conditions/urinary-tract-infection/symptoms-causes/syc-20353447]",['DO_infectious_disease_slim'],['MESH:D014552'],['DOID:18']
2706,0080794,childhood acute megakaryoblastic leukemia,"""An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood."" [url:https\://pubmed.ncbi.nlm.nih.gov/28867167/, url:https\://www.nature.com/articles/ng.3772, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7309653/]",['DO_cancer_slim'],['NCI:C7972'],['DOID:8761']
2707,0080795,acute basophilic leukemia,"""An acute myeloid leukemia that is characterized by primary differentiation to basophils."" [url:http\://www.pathologyoutlines.com/topic/leukemiabasophil.html, url:https\://en.wikipedia.org/wiki/Acute_basophilic_leukemia]",['DO_cancer_slim'],"['ICDO:9870/3', 'NCI:C3164']",['DOID:9119']
2708,0080796,core binding factor acute myeloid leukemia,"""An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis."" [url:https\://pubmed.ncbi.nlm.nih.gov/26980726/]",['DO_cancer_slim'],['NCI:C122688'],['DOID:9119']
2709,0080797,nasal type extranodal NK/T-cell lymphoma,"""A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells."" [url:https\://pubmed.ncbi.nlm.nih.gov/29602763/]",['DO_cancer_slim'],"['ICDO:9719/3', 'NCI:C4684']",['DOID:0050743']
2710,0080798,myeloid leukemia associated with Down Syndrome,"""An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene."" [url:https\://pubmed.ncbi.nlm.nih.gov/26910243/, url:https\://pubmed.ncbi.nlm.nih.gov/31606922/]",['DO_cancer_slim'],"['ICDO:9898/3', 'NCI:C43223']",['DOID:8761']
2711,0080799,sinonasal undifferentiated carcinoma,"""A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells."" [url:https\://pubmed.ncbi.nlm.nih.gov/30806835/]",['DO_cancer_slim'],"['MESH:C537344', 'NCI:C54294']",['DOID:4931']
2712,0080800,salivary gland mucinous adenocarcinoma,"""A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found."" [url:https\://pubmed.ncbi.nlm.nih.gov/26908552/]",['DO_cancer_slim'],['NCI:C62193'],['DOID:0050904']
2720,0080808,mammary analogue secretory carcinoma,"""A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene."" [url:http\://www.pathologyoutlines.com/topic/salivaryglandsmammary.html, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643951/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113190/]",['DO_cancer_slim'],['MESH:D000069295'],['DOID:0050904']
2740,0080828,VEXAS syndrome,"""A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11."" [url:https\://www.nejm.org/doi/full/10.1056/NEJMoa2026834, url:https\://www.nih.gov/news-events/news-releases/scientists-use-clues-human-genome-discover-new-inflammatory-syndrome]",['DO_rare_slim'],"['OMIM:301054', 'ORDO:596753']",['DOID:225']
2741,0080829,low grade glioma,"""A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes)."" [url:http\://www.danafarberbostonchildrens.org/conditions/brain-tumor/low-grade-glioma.aspx, url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/glioma, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361022/]",['DO_cancer_slim'],['NCI:C132067'],['DOID:0060084']
2745,0080833,laryngomalacia,"""A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying."" [url:https\://www.childrenshospital.org/conditions-and-treatments/conditions/l/laryngomalacia, url:https\://www.childrenshospitalvanderbilt.org/medical-conditions/laryngomalacia]",['DO_rare_slim'],"['GARD:6865', 'ICD10CM:Q31.5', 'OMIM:150280', 'ORDO:2373', 'SNOMEDCT_US_2022_09_01:253737007', 'UMLS_CUI:C0345160']",['DOID:786']
2747,0080835,TORCH syndrome,"""A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms."" [url:https\://pubmed.ncbi.nlm.nih.gov/32317443/, url:https\://pubmed.ncbi.nlm.nih.gov/32734340/, url:https\://rarediseases.org/rare-diseases/torch-syndrome/, url:https\://www.childrenshospital.org/conditions-and-treatments/conditions/t/torch]",['DO_rare_slim'],['GARD:7781'],['DOID:225']
2748,0080836,growth hormone insensitivity syndrome with immune dysregulation 1,"""A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21."" [url:https\://pubmed.ncbi.nlm.nih.gov/16787985/]",['DO_rare_slim'],"['GARD:3924', 'OMIM:245590', 'ORDO:220465']",['DOID:225']
2755,0080844,omodysplasia 1,"""An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32."" [url:https\://pubmed.ncbi.nlm.nih.gov/17823719/]",['DO_rare_slim'],"['MESH:C537746', 'OMIM:258315', 'ORDO:93329', 'SNOMEDCT_US_2022_09_01:725166005', 'UMLS_CUI:C1850318']",['DOID:0060288']
2759,0080849,"ocular motor apraxia, Cogan type","""An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements."" [url:https\://en.wikipedia.org/wiki/Oculomotor_apraxia, url:https\://eyewiki.aao.org/Oculomotor_Apraxia, url:https\://rarediseases.org/rare-diseases/ocular-motor-apraxia-cogan-type/]",['DO_rare_slim'],"['GARD:16', 'OMIM:257550', 'ORDO:1404']",['DOID:5614']
2760,0080850,pemphigus foliaceus,"""A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin."" [url:https\://dermnetnz.org/topics/pemphigus-foliaceus/]",['DO_rare_slim'],"['GARD:7354', 'ICD10CM:L10.2', 'MESH:D010392', 'ORDO:79481', 'SNOMEDCT_US_2022_09_01:35154004', 'UMLS_CUI:C0263313']",['DOID:9182']
2763,0080854,anaplastic pleomorphic xanthoastrocytoma,"""A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields."" [url:https\://www.hindawi.com/journals/crinm/2018/6428492/]",['DO_cancer_slim'],['NCI:C129327'],['DOID:3069']
2766,0080857,primary ovarian insufficiency 1,"""A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28)."" [url:https\://pubmed.ncbi.nlm.nih.gov/27861765/]",['DO_rare_slim'],"['GARD:4480', 'OMIM:311360']",['DOID:5426']
2784,0080875,IDH-mutant anaplastic astrocytoma,"""An anaplastic astrocytoma carrying IDH mutations."" [url:https\://www.pathologyoutlines.com/topic/anaastroidhmutant.html]",['DO_cancer_slim'],['NCI:C185167'],['DOID:3078']
2785,0080876,IDH-wildtype anaplastic astrocytoma,"""An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes."" [url:https\://www.pathologyoutlines.com/topic/cnstumoranaastroIDHwild.html]",['DO_cancer_slim'],"['ICDO:9401/3', 'NCI:C129291']",['DOID:3078']
2786,0080877,"astrocytoma, IDH-mutant, grade 4","""An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas."" [url:https\://pubmed.ncbi.nlm.nih.gov/33692446/]",['DO_cancer_slim'],"['ICDO:9445/3', 'NCI:C167335']",['DOID:0080875']
2787,0080878,IDH-wildtype glioblastoma,"""A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes."" [url:https\://www.pathologyoutlines.com/topic/cnstumortumorglioIDHwild.html]",['DO_cancer_slim'],"['ICDO:9440/3', 'NCI:C39750']",['DOID:3068']
2789,0080880,"diffuse glioma, H3 G34 mutant","""A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein."" [url:https\://pubmed.ncbi.nlm.nih.gov/30358620/]",['DO_cancer_slim'],"['ICDO:9385/3', 'NCI:C185371']",['DOID:0080879']
2791,0080882,IDH-mutant and 1p/19q-codeleted oligodendroglioma,"""An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion)."" [url:https\://www.nature.com/articles/s41598-020-68733-5, url:https\://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html]",['DO_cancer_slim'],['NCI:C129321'],['DOID:7154']
2793,0080884,vitamin D-dependent rickets type 2A,"""A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q."" [url:https\://pubmed.ncbi.nlm.nih.gov/27705794/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/]",['DO_rare_slim'],"['OMIM:277440', 'ORDO:93160']",['DOID:0080883']
2794,0080885,vitamin D-dependent rickets type 2B,"""A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/]",['DO_rare_slim'],"['OMIM:600785', 'ORDO:93160']",['DOID:0080883']
2795,0080886,vitamin D-dependent rickets type 1A,"""A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13."" [url:https\://pubmed.ncbi.nlm.nih.gov/27705794/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/]",['DO_rare_slim'],"['OMIM:264700', 'ORDO:289157']",['DOID:0080883']
2796,0080887,vitamin D-dependent rickets type 1B,"""A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15."" [url:https\://pubmed.ncbi.nlm.nih.gov/26365513/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/]",['DO_rare_slim'],"['OMIM:600081', 'ORDO:289157']",['DOID:0080883']
2797,0080888,"spinal ependymoma, MYCN-amplified","""A spinal cord ependymoma that is characterized by MYCN amplification."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851394/]",['DO_cancer_slim'],"['ICDO:9396/3', 'NCI:C186494']",['DOID:5503']
2798,0080889,posterior fossa ependymoma,"""A high grade ependymoma that is located within the posterior fossa."" [url:https\://pubmed.ncbi.nlm.nih.gov/26351223/, url:https\://pubmed.ncbi.nlm.nih.gov/32502305/]",['DO_cancer_slim'],['ICDO:9391/3'],['DOID:5074']
2799,0080890,supratentorial ependymoma,"""A high grade ependymoma that is located within the supratentorial brain."" [url:https\://pubmed.ncbi.nlm.nih.gov/27858204/]",['DO_cancer_slim'],['ICDO:9391/3'],['DOID:5074']
2801,0080892,RELA fusion-positive ependymoma,"""A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene."" [url:https\://www.pathologyoutlines.com/topic/cnstumorependymomarelafusion.html]","['DO_cancer_slim', 'DO_rare_slim']","['ICDO:9396/3', 'NCI:C129351', 'ORDO:530792']",['DOID:0080890']
2802,0080893,Bainbridge-Ropers syndrome,"""A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12."" [url:https\://pubmed.ncbi.nlm.nih.gov/23383720/, url:https\://pubmed.ncbi.nlm.nih.gov/23672984/, url:https\://pubmed.ncbi.nlm.nih.gov/27901041/, url:https\://pubmed.ncbi.nlm.nih.gov/32132929/, url:https\://www.ncbi.nlm.nih.gov/books/NBK563693/]",['DO_rare_slim'],"['GARD:13259', 'OMIM:615485', 'ORDO:352577']",['DOID:225']
2804,0080895,rapidly involuting congenital hemangioma,"""A hemangioma that is characterized by complete regression."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786408/]",['DO_rare_slim'],"['NCI:C172207', 'ORDO:141184']",['DOID:255']
2806,0080897,solitary fibrous tumor/hemangiopericytoma,"""A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas."" [url:https\://pubmed.ncbi.nlm.nih.gov/29521591/, url:https\://thejns.org/view/journals/j-neurosurg/130/2/article-p418.xml, url:https\://www.sciencedirect.com/science/article/pii/S221475191830183X]","['DO_cancer_slim', 'DO_rare_slim']","['ICDO:8815/1', 'ORDO:2126']",['DOID:201']
2807,0080898,cerebellofaciodental syndrome,"""A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32."" [url:https\://pubmed.ncbi.nlm.nih.gov/32896090/]",['DO_rare_slim'],"['OMIM:616202', 'ORDO:444072']",['DOID:225']
2812,0080903,"embryonal tumor with multilayered rosettes, C19MC-altered","""An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42)."" [url:https\://radiopaedia.org/articles/embryonal-tumours-with-multilayered-rosettes-etmr?lang=us, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:D018242', 'NCI:C4915', 'SNOMEDCT_US_2022_09_01:253070006', 'UMLS_CUI:C0700367']",['DOID:0081286']
2813,0080904,"astroblastoma, MN1-altered","""An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q."" [url:https\://pubmed.ncbi.nlm.nih.gov/31111274/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843525/]",['DO_cancer_slim'],['ICDO:9430/3'],['DOID:7305']
2815,0080906,CNS neuroblastoma with FOXR2 activation,"""A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo."" [url:https\://link.springer.com/article/10.1007%2Fs10014-020-00370-2, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350623/]",['DO_cancer_slim'],['ICDO:9500/3'],['DOID:0080905']
2816,0080907,Cockayne syndrome A,"""A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11."" [url:https\://medlineplus.gov/genetics/condition/cockayne-syndrome/]",['DO_rare_slim'],"['GARD:1415', 'OMIM:216400', 'ORDO:90321']",['DOID:2962']
2817,0080908,Cockayne syndrome B,"""A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK1342/]",['DO_rare_slim'],"['GARD:1420', 'OMIM:133540', 'ORDO:90322']",['DOID:2962']
2819,0080910,cerebrooculofacioskeletal syndrome,"""A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK1342/]",['DO_rare_slim'],"['GARD:6027', 'OMIM:PS214150']",['DOID:2962']
2824,0080915,histiocytic sarcoma,"""A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520642/]",['DO_cancer_slim'],"['ICDO:9755/3', 'MESH:D054747', 'NCI:C27349']",['DOID:5621']
2828,0080919,unilateral focal polymicrogyria,"""A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK1329/]",['DO_rare_slim'],['ORDO:268947'],['DOID:0080918']
2830,0080921,bilateral frontal polymicrogyria,"""A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability."" [url:https\://en.wikipedia.org/wiki/Polymicrogyria#Unilateral_polymicrogyria, url:https\://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria]",['DO_rare_slim'],"['GARD:10783', 'ORDO:208444']",['DOID:0080918']
2831,0080922,bilateral frontoparietal polymicrogyria,"""A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21."" [url:https\://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria/cases/32002]",['DO_rare_slim'],"['GARD:10784', 'NCI:C148367', 'OMIM:606854']",['DOID:0080918']
2832,0080923,bilateral parasagittal parieto-occipital polymicrogyria,"""A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21."" [url:https\://pubmed.ncbi.nlm.nih.gov/10690985/, url:https\://pubmed.ncbi.nlm.nih.gov/9005867/]",['DO_rare_slim'],"['GARD:10785', 'OMIM:612691', 'ORDO:208441']",['DOID:0080918']
2833,0080924,bilateral perisylvian polymicrogyria,"""A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21."" [url:https\://pubmed.ncbi.nlm.nih.gov/24531968/]",['DO_rare_slim'],"['GARD:6011', 'OMIM:615752', 'ORDO:98889']",['DOID:0080918']
2834,0080925,cytochrome P450 oxidoreductase deficiency,"""A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK1419/]",['DO_rare_slim'],"['GARD:12664', 'NCI:131302', 'OMIM:613571']",['DOID:1701']
2835,0080926,7q11.23 duplication syndrome,"""A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism,  seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7."" [url:https\://medlineplus.gov/genetics/condition/7q1123-duplication-syndrome/, url:https\://www.ncbi.nlm.nih.gov/books/NBK327268/]",['DO_rare_slim'],"['GARD:12076', 'OMIM:609757', 'ORDO:96121']",['DOID:0060429']
2836,0080927,apolipoprotein A-IV associated amyloidosis,"""An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease."" [url:https\://pubmed.ncbi.nlm.nih.gov/27262366/]",['DO_rare_slim'],['ORDO:439232'],['DOID:9120']
2837,0080928,dialysis-related amyloidosis,"""An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5153266/]",['DO_rare_slim'],"['GARD:0010563', 'ORDO:439246']",['DOID:9120']
2838,0080929,variant ABeta2M amyloidosis,"""An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy."" [url:https\://pubmed.ncbi.nlm.nih.gov/32392555/]",['DO_rare_slim'],['ORDO:314652'],['DOID:9120']
2843,0080934,immunoglobulin heavy chain amyloidosis,"""An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm."" [url:https\://pubmed.ncbi.nlm.nih.gov/32703752/]",['DO_rare_slim'],['ORDO:442582'],['DOID:9120']
2851,0080942,anauxetic dysplasia,"""A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK84550/]",['DO_rare_slim'],"['GARD:9657', 'MESH:C538256', 'OMIM:PS607095', 'ORDO:93347']",['DOID:0080027']
2863,0080954,arthrogryposis multiplex congenita,"""A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth."" [url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/arthrogryposis, url:https\://www.merckmanuals.com/professional/pediatrics/congenital-craniofacial-and-musculoskeletal-abnormalities/arthrogryposis-multiplex-congenita]",['DO_rare_slim'],"['GARD:777', 'OMIM:PS617468']",['DOID:863']
2864,0080956,"childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered","""A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6772]",['DO_cancer_slim'],['NCI:C6772'],['DOID:7841']
2865,0080957,primary hypoalphalipoproteinemia 1,"""A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease."" [url:https\://medlineplus.gov/genetics/condition/familial-hdl-deficiency/]",['DO_rare_slim'],"['GARD:2872', 'OMIM:604091', 'ORDO:425']",['DOID:1387']
2866,0080958,primary hypoalphalipoproteinemia 2,"""A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23."" [url:https\://pubmed.ncbi.nlm.nih.gov/29396262/]",['DO_rare_slim'],"['GARD:758', 'OMIM:618463', 'ORDO:425']",['DOID:1387']
2869,0080962,anauxetic dysplasia 2,"""A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22."" [url:https\://pubmed.ncbi.nlm.nih.gov/28067412/]",['DO_rare_slim'],['OMIM:617396'],['DOID:0080942']
2870,0080963,anauxetic dysplasia 3,"""A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13."" [url:https\://pubmed.ncbi.nlm.nih.gov/31250547/]",['DO_rare_slim'],['OMIM:618853'],['DOID:0080942']
2890,0080984,X-linked intellectual developmental disorder 109,"""A syndromic X-linked intellectual disability characterized by  mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion."" [url:https\://pubmed.ncbi.nlm.nih.gov/21739600/]",['DO_rare_slim'],"['GARD:2378', 'OMIM:309548', 'ORDO:100973']",['DOID:0060309']
2891,0080985,syndromic X-linked intellectual disorder Lujan-Fryns-type,"""A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype."" [url:https\://medlineplus.gov/genetics/condition/lujan-syndrome/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1676/]",['DO_rare_slim'],"['GARD:3307', 'OMIM:309520', 'ORDO:776']",['DOID:0060309']
2892,0080986,Ehlers-Danlos syndrome periodontal type 1,"""An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13."" [url:https\://pubmed.ncbi.nlm.nih.gov/27745832/]",['DO_rare_slim'],"['GARD:12474', 'OMIM:130080', 'ORDO:75392']",['DOID:13359']
2893,0080987,Ehlers-Danlos syndrome periodontal type 2,"""An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13."" [url:https\://pubmed.ncbi.nlm.nih.gov/27745832/]",['DO_rare_slim'],"['GARD:12474', 'OMIM:617174', 'ORDO:75392']",['DOID:13359']
2894,0080988,pretibial dystrophic epidermolysis bullosa,"""An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa."" [url:https\://pubmed.ncbi.nlm.nih.gov/7738360/]",['DO_rare_slim'],"['GARD:2155', 'OMIM:131850', 'ORDO:79410']",['DOID:4959']
2895,0080990,King Denborough syndrome,"""A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK1146/]",['DO_rare_slim'],"['GARD:8433', 'MESH:C536883', 'OMIM:145600', 'ORDO:99741']",['DOID:423']
2896,0080991,congenital myopathy 1B,"""A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form."" [url:https\://pubmed.ncbi.nlm.nih.gov/11731287/]",['DO_rare_slim'],"['GARD:10316', 'OMIM:255320', 'ORDO:598']",['DOID:0081337']
2900,0080996,diffuse large B-cell lymphoma activated B-cell type,"""A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes."" [url:https\://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36081]",['DO_cancer_slim'],['NCI:C36081'],['DOID:0050745']
2901,0080997,diffuse large B-cell lymphoma germinal center B-cell type,"""A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification."" [url:https\://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36080]",['DO_cancer_slim'],['NCI:C36080'],['DOID:0050745']
2911,0081007,RNASET2-deficient cystic leukoencephalopathy,"""A leukodystrophy that is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment."" [url:https\://medlineplus.gov/genetics/condition/rnase-t2-deficient-leukoencephalopathy/#synonyms]",['DO_rare_slim'],"['GARD:13199', 'OMIM:612951', 'ORDO:85136']",['DOID:10579']
2912,0081008,intellectual developmental disorder with cardiac arrhythmia,"""A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21."" [url:https\://pubmed.ncbi.nlm.nih.gov/27523599/]",['DO_rare_slim'],"['OMIM:617173', 'ORDO:542306']",['DOID:225']
2924,0081021,Tukel syndrome,"""A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left."" [url:https\://pubmed.ncbi.nlm.nih.gov/15863670/]",['DO_rare_slim'],"['GARD:9814', 'MESH:C536925', 'OMIM:609428']",['DOID:0080143']
2925,0081022,retinal cone dystrophy 3B,"""A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24."" [url:https\://pubmed.ncbi.nlm.nih.gov/15722315/]",['DO_rare_slim'],"['GARD:10649', 'MESH:C563678', 'OMIM:610356', 'ORDO:209932']",['DOID:0050795']
2926,0081023,retinal cone dystrophy 4,"""A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13."" [url:https\://pubmed.ncbi.nlm.nih.gov/26560832/]",['DO_rare_slim'],"['GARD:10650', 'MESH:C566470', 'OMIM:610478']",['DOID:0050795']
2927,0081024,retinal cone dystrophy 1,"""A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration."" [url:https\://pubmed.ncbi.nlm.nih.gov/15051206/, url:https\://pubmed.ncbi.nlm.nih.gov/4573331/]",['DO_rare_slim'],"['GARD:3196', 'MESH:C566719', 'OMIM:180020']",['DOID:0050795']
2928,0081025,retinal cone dystrophy 3A,"""A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H0) on chromosome 12p13."" [url:https\://pubmed.ncbi.nlm.nih.gov/22901948/]",['DO_rare_slim'],"['GARD:10648', 'MESH:C566483', 'OMIM:610024']",['DOID:0050795']
2933,0081034,glutatione synthetase deficiency with 5-oxoprolinuria,"""A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline."" [url:https\://pubmed.ncbi.nlm.nih.gov/15990954/]",['DO_rare_slim'],"['OMIM:266130', 'ORDO:32']",['DOID:0080699']
2938,0081041,B-cell prolymphocytic leukemia,"""A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood."" [url:https\://pubmed.ncbi.nlm.nih.gov/34293709/]",['DO_rare_slim'],"['GARD:8223', 'ICDO:9833/3', 'NCI:C4753', 'ORDO:86852']",['DOID:1039']
2939,0081042,T-cell prolymphocytic leukemia,"""A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin."" [url:https\://pubmed.ncbi.nlm.nih.gov/31082044/]",['DO_rare_slim'],"['ICDO:9834/3', 'NCI:C4752', 'ORDO:86871']",['DOID:1039']
2940,0081043,fetal akinesia deformation sequence syndrome X-linked,"""A fetal akinesia deformation sequence syndrom that is an X-linked form that is characterized by brain malformations, telecanthus, and narrow palpebral fissures."" [url:https\://pubmed.ncbi.nlm.nih.gov/9018412/]",['DO_rare_slim'],"['GARD:2293', 'OMIM:300073']",['DOID:0111375']
2941,0081044,frontonasal dysplasia,"""A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak."" [url:https\://medlineplus.gov/genetics/condition/frontonasal-dysplasia/, url:https\://pubmed.ncbi.nlm.nih.gov/27920634/]",['DO_rare_slim'],"['GARD:2392', 'MESH:C538065', 'OMIM:PS136760']",['DOID:225']
2945,0081048,congenital limbs-face contractures-hypotonia-developmental delay syndrome,"""A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33."" [url:https\://pubmed.ncbi.nlm.nih.gov/25864427/, url:https\://pubmed.ncbi.nlm.nih.gov/30167850/, url:https\://www.nature.com/articles/s41598-019-48071-x]",['DO_rare_slim'],"['OMIM:616266', 'ORDO:562528']",['DOID:225']
2946,0081049,hepatosplenic T-cell lymphoma,"""A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type."" [url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7596851/]",['DO_rare_slim'],"['NCI:C8459', 'ORDO:86882']",['DOID:0050743']
2950,0081055,central diabetes insipidus,"""A diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis."" [url:https\://pubmed.ncbi.nlm.nih.gov/15070970/]",['DO_rare_slim'],"['GARD:6015', 'ORDO:178029']",['DOID:9409']
2953,0081059,X-linked central diabetes insipidus,"""A central diabetes insipidus that has_material_basis_in X-linked inheritance."" [url:https\://pubmed.ncbi.nlm.nih.gov/15070970/]",['DO_rare_slim'],"['OMIM:304900', 'ORDO:30925']",['DOID:0081055']
2956,0081063,DICER1 syndrome,"""A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression."" [url:https\://medlineplus.gov/genetics/condition/dicer1-syndrome/, url:https\://pubmed.ncbi.nlm.nih.gov/31409088/, url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5977116/]","['DO_cancer_slim', 'DO_rare_slim']","['OMIM:601200', 'ORDO:284343']",['DOID:225']
2957,0081064,BN2 diffuse large B-cell lymphoma,"""A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding."" [url:https\://pubmed.ncbi.nlm.nih.gov/29641966/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/]",['DO_cancer_slim'],['NCI:C148395'],['DOID:0050745']
2958,0081065,EZB diffuse large B-cell lymphoma,"""A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding."" [url:https\://pubmed.ncbi.nlm.nih.gov/29641966/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/]",['DO_cancer_slim'],['NCI:C148398'],['DOID:0050745']
2959,0081066,MCD diffuse large B-cell lymphoma,"""A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding."" [url:https\://pubmed.ncbi.nlm.nih.gov/29641966/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/]",['DO_cancer_slim'],['NCI:C148394'],['DOID:0050745']
2960,0081067,N1 diffuse large B-cell lymphoma,"""A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features."" [url:https\://pubmed.ncbi.nlm.nih.gov/29641966/]",['DO_cancer_slim'],['NCI:C148396'],['DOID:0050745']
2965,0081072,"craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome","""A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalitie, and delayed development of speech and movement (motor) skills."" [url:https\://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia/, url:https\://pubmed.ncbi.nlm.nih.gov/20018682/, url:https\://pubmed.ncbi.nlm.nih.gov/24194475/, url:https\://pubmed.ncbi.nlm.nih.gov/30556256/]",['DO_rare_slim'],"['GARD:1210', 'OMIM:PS213980', 'ORDO:1394']",['DOID:225']
2966,0081073,Teebi hypertelorism syndrome,"""A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features."" [url:https\://pubmed.ncbi.nlm.nih.gov/26111080/, url:https\://www.omim.org/entry/145420]",['DO_rare_slim'],"['GARD:957', 'OMIM:PS145420', 'ORDO:2745']",['DOID:225']
2970,0081077,ectodermal dysplasia and immune deficiency,"""An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency."" [url:https\://medlineplus.gov/genetics/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency/, url:https\://pubmed.ncbi.nlm.nih.gov/27477329/, url:https\://pubmed.ncbi.nlm.nih.gov/34815879/]",['DO_rare_slim'],"['GARD:9936', 'OMIM:PS300291']",['DOID:2121']
2971,0081078,ectodermal dysplasia and immunodeficiency 1,"""An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28."" [url:https\://pubmed.ncbi.nlm.nih.gov/31965418/]",['DO_rare_slim'],"['OMIM:300291', 'ORDO:69088']",['DOID:0081077']
2973,0081080,acute myeloid leukemia with t(6;9) (p23;q34.1),"""An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia."" [url:https\://pubmed.ncbi.nlm.nih.gov/32526729/]",['DO_cancer_slim'],"['ICDO:9865/3', 'NCI:C82423', 'SNOMEDCT_US_2022_09_01:450928003', 'UMLS_CUI:C2826169']",['DOID:9119']
2974,0081081,acute promyelocytic leukemia with PML-RARA,"""An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate."" [url:https\://pubmed.ncbi.nlm.nih.gov/24720386/]",['DO_cancer_slim'],"['ICDO:9866/3', 'NCI:C3182']",['DOID:0060318']
2975,0081082,acute myelomonocytic leukemia,"""An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors."" [url:https\://pubmed.ncbi.nlm.nih.gov/31915926/]",['DO_cancer_slim'],"['ICD10CM:C92.5', 'ICDO:9867/3', 'MESH:D015479', 'NCI:C7463', 'SNOMEDCT_US_2022_09_01:30962008', 'UMLS_CUI:C0023479']",['DOID:9119']
2976,0081083,acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2),"""An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression."" [url:https\://pubmed.ncbi.nlm.nih.gov/31711889/]",['DO_cancer_slim'],"['ICDO:9869/3', 'NCI:C82426', 'SNOMEDCT_US_2022_09_01:780844005', 'UMLS_CUI:C2826172']",['DOID:9119']
2977,0081084,acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22),"""An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11."" [url:https\://pubmed.ncbi.nlm.nih.gov/31353165/, url:https\://pubmed.ncbi.nlm.nih.gov/33303720/]",['DO_cancer_slim'],"['ICDO:9871/3', 'SNOMEDCT_US_2022_09_01:103688009', 'UMLS_CUI:C0522630']",['DOID:9119']
2978,0081085,acute myeloid leukemia with minimal differentiation,"""An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry."" [url:https\://pubmed.ncbi.nlm.nih.gov/12110349/]",['DO_cancer_slim'],"['ICD10CM:C92.0', 'ICDO:9872/3', 'NCI:C8460', 'SNOMEDCT_US_2022_09_01:103689001', 'UMLS_CUI:C0522631']",['DOID:9119']
2979,0081086,acute myeloid leukemia without maturation,"""An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage."" [url:https\://wiki.clinicalflow.com/aml-acute-myelogenous-leukemia-without-maturation-m1]","['DO_cancer_slim', 'DO_rare_slim']","['GARD:526', 'ICD10CM:C92.0', 'ICDO:9873/3', 'MESH:D015470', 'NCI:C3249', 'ORDO:98833', 'SNOMEDCT_US_2022_09_01:103690005', 'UMLS_CUI:C0026998']",['DOID:9119']
2980,0081087,acute myeloid leukemia with maturation,"""An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage."" [url:https\://en.wikipedia.org/wiki/Acute_myeloblastic_leukemia_with_maturation]",['DO_cancer_slim'],"['ICD10CM:C92.0', 'ICDO:9874/3', 'MESH:D015470', 'NCI:C3250', 'SNOMEDCT_US_2022_09_01:103691009', 'UMLS_CUI:C1879321']",['DOID:9119']
2981,0081088,"chronic myelogenous leukemia, BCR-ABL1 positive","""A chronic myeloid leukemia that is characterized by an abnormally high number of neutrophils and the expression of the BCR-ABL1 fusion gene."" [url:https\://pubmed.ncbi.nlm.nih.gov/32239758/]",['DO_cancer_slim'],"['ICD9CM:205.1', 'ICDO:9875/3', 'SNOMEDCT_US_2022_09_01:154592009', 'UMLS_CUI:C0023473']",['DOID:8552']
2982,0081089,acute myeloid leukemia with mutated NPM1,"""An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features."" [url:https\://pubmed.ncbi.nlm.nih.gov/32609823/]",['DO_cancer_slim'],"['ICDO:9877/3', 'NCI:C82431', 'SNOMEDCT_US_2022_09_01:703820005', 'UMLS_CUI:C2826177']",['DOID:9119']
2983,0081090,acute myeloid leukemia with biallelic mutation of CEBPA,"""An acute myeloid leukemia with double mutations of the CEBPA gene."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394975/]",['DO_cancer_slim'],"['ICDO:9878/3', 'NCI:C129782']",['DOID:9119']
2984,0081091,acute myeloid leukemia with mutated RUNX1,"""An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities."" [url:https\://pubmed.ncbi.nlm.nih.gov/32871587/]",['DO_cancer_slim'],"['ICDO:9879/3', 'NCI:C129786']",['DOID:9119']
2985,0081092,acute myeloid leukemia with myelodysplasia-related changes,"""An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities."" [url:https\://pubmed.ncbi.nlm.nih.gov/32864703/]",['DO_cancer_slim'],"['ICDO:9895/3', 'NCI:C7600', 'SNOMEDCT_US_2022_09_01:128827005', 'UMLS_CUI:C2825139']",['DOID:9119']
2986,0081093,acute myeloid leukemia with t(8;21); (q22; q22.1),"""An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules."" [url:https\://pubmed.ncbi.nlm.nih.gov/31004601/, url:https\://pubmed.ncbi.nlm.nih.gov/35502592/]",['DO_cancer_slim'],"['ICDO:9896/3', 'NCI:C9288']",['DOID:9119']
2987,0081094,acute myeloid leukemia with MLL rearrangement,"""An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene."" [url:https\://pubmed.ncbi.nlm.nih.gov/34964255/]",['DO_cancer_slim'],"['ICDO:9897/3', 'NCI:C174129']",['DOID:9119']
2988,0081095,acute myeloid leukemia with mutated CEBPA,"""An acute myeloid leukemia with non-germline mutations of the CEBPA gene."" [url:https\://medlineplus.gov/genetics/condition/familial-acute-myeloid-leukemia-with-mutated-cebpa/]",['DO_cancer_slim'],"['ICDO:9861/3', 'NCI:C82433']",['DOID:9119']
2989,0081096,acute myeloid leukemia with t(1;22)(p13;q13),"""An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein."" [url:https\://pubmed.ncbi.nlm.nih.gov/22469944/]",['DO_cancer_slim'],"['ICDO:9911/3', 'NCI:C82427']",['DOID:9119']
2993,0081100,spastic paraplegia with deafness,"""A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life."" [url:https\://pubmed.ncbi.nlm.nih.gov/27271711/, url:https\://pubmed.ncbi.nlm.nih.gov/3741213/]",['DO_rare_slim'],"['GARD:5555', 'MESH:C536692', 'OMIM:312910', 'ORDO:2815']",['DOID:2476']
2994,0081101,nonautoimmune hyperthyroidism,"""A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31."" [url:https\://pubmed.ncbi.nlm.nih.gov/8964822/]",['DO_rare_slim'],"['OMIM:609152', 'ORDO:424']",['DOID:7998']
2995,0081102,familial gestational hyperthyroidism,"""A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31."" [url:https\://pubmed.ncbi.nlm.nih.gov/9267761/]",['DO_rare_slim'],"['OMIM:603373', 'ORDO:99819']",['DOID:7998']
2996,0081104,hot water epilepsy,"""A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head."" [url:https\://pubmed.ncbi.nlm.nih.gov/12558829/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/]",['DO_rare_slim'],"['OMIM:PS613339', 'ORDO:166412']",['DOID:2548']
2997,0081105,keratosis palmoplantaris striata,"""A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm."" [url:https\://pubmed.ncbi.nlm.nih.gov/29934816/]",['DO_rare_slim'],['ORDO:50942'],['DOID:3390']
3000,0081108,keratosis palmoplantaris striata 1,"""A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12."" [url:https\://pubmed.ncbi.nlm.nih.gov/29934816/]",['DO_rare_slim'],"['GARD:9172', 'MESH:C536162', 'OMIM:148700', 'ORDO:369999', 'ORDO:370002']",['DOID:0081105']
3003,0081111,osteosclerotic metaphyseal dysplasia,"""A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26."" [url:https\://pubmed.ncbi.nlm.nih.gov/18811698/]",['DO_rare_slim'],"['OMIM:615198', 'ORDO:500548']",['DOID:0080019']
3014,0081122,Catel Manzke syndrome,"""A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32."" [url:https\://pubmed.ncbi.nlm.nih.gov/18501694/]",['DO_rare_slim'],"['GARD:28', 'MESH:C535347', 'OMIM:616145', 'ORDO:1388']",['DOID:0080001']
3015,0081123,X-linked mental retardation Gustavson type,"""A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death."" [url:https\://pubmed.ncbi.nlm.nih.gov/8503440/]",['DO_rare_slim'],"['GARD:5611', 'OMIM:309555', 'ORDO:3078']",['DOID:0060309']
3018,0081126,DeSanto-Shinawi syndrome,"""A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11."" [url:https\://pubmed.ncbi.nlm.nih.gov/26264232/, url:https\://www.ncbi.nlm.nih.gov/books/NBK465012/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034681/]",['DO_rare_slim'],"['OMIM:616708', 'ORDO:284169', 'ORDO:466943', 'ORDO:466950']",['DOID:225']
3019,0081127,mandibuloacral dysplasia,"""A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body."" [url:https\://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia/, url:https\://pubmed.ncbi.nlm.nih.gov/29208544/, url:https\://rarediseases.org/rare-diseases/mandibuloacral-dysplasia/]",['DO_rare_slim'],"['GARD:11893', 'OMIM:PS248370', 'ORDO:2457']",['DOID:0080006']
3020,0081128,mandibuloacral dysplasia type A lipodystrophy,"""A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk."" [url:https\://pubmed.ncbi.nlm.nih.gov/19764019/]",['DO_rare_slim'],"['GARD:3374', 'OMIM:248370', 'ORDO:90153']",['DOID:0081127']
3023,0081131,BH4-deficient hyperphenylalaninemia D,"""A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22."" [url:https\://pubmed.ncbi.nlm.nih.gov/24204001/]",['DO_rare_slim'],"['GARD:2843', 'OMIM:264070', 'ORDO:1578']",['DOID:0081132']
3024,0081132,tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia,"""An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4."" [url:https\://medlineplus.gov/genetics/condition/tetrahydrobiopterin-deficiency/, url:https\://pubmed.ncbi.nlm.nih.gov/11388593/]",['DO_rare_slim'],"['GARD:7751', 'ORDO:238583']",['DOID:9252']
3057,0081168,HMG-CoA synthase 2 deficiency,"""An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12."" [url:https\://pubmed.ncbi.nlm.nih.gov/16601895/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979369/]",['DO_rare_slim'],"['GARD:2712', 'OMIM:605911', 'ORDO:35701']",['DOID:9252']
3059,0081175,"short stature, hearing loss, retinitis pigmentosa, and distinctive facies","""A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34."" [url:https\://pubmed.ncbi.nlm.nih.gov/26843489/, url:https\://pubmed.ncbi.nlm.nih.gov/34162742/]",['DO_rare_slim'],"['OMIM:617763', 'ORDO:494439']",['DOID:225']
3126,0081242,"autoimmune interstitial lung, joint, and kidney disease","""A syndrome that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23."" [url:https\://pubmed.ncbi.nlm.nih.gov/25894502/, url:https\://rarediseases.org/rare-diseases/copa-syndrome/]",['DO_rare_slim'],"['OMIM:616414', 'ORDO:444092']",['DOID:225']
3127,0081243,rhizomelic chondrodysplasia punctate type 4,"""A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency."" [url:https\://pubmed.ncbi.nlm.nih.gov/28523433/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471318/]",['DO_rare_slim'],"['OMIM:616154', 'ORDO:438178']",['DOID:2580']
3129,0081245,cauda equina neuroendocrine tumor,"""A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina."" [url:https\://radiopaedia.org/articles/spinal-neuroendocrine-tumour?lang=us]",['DO_cancer_slim'],"['ICDO:8693/3', 'NCI:C5324']",['DOID:4847']
3130,0081246,teratoma with somatic-type malignancy,"""A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874974/]",['DO_cancer_slim'],"['ICDO:9084/3', 'NCI:C4289']",['DOID:3307']
3131,0081247,dedifferentiated chondrosarcoma,"""A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component."" [url:https\://pubmed.ncbi.nlm.nih.gov/34734747/]",['DO_cancer_slim'],"['ICDO:9243/3', 'NCI:C6476']",['DOID:3371']
3132,0081248,pineocytoma,"""An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation."" [url:https\://rarediseases.org/gard-rare-disease/pineocytoma/]",['DO_cancer_slim'],"['ICDO:9361/1', 'NCI:C6966']",['DOID:0060089']
3134,0081250,CIC-rearranged sarcoma,"""An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions."" [url:https\://pubmed.ncbi.nlm.nih.gov/31288305/, url:https\://pubmed.ncbi.nlm.nih.gov/32796172/, url:https\://pubmed.ncbi.nlm.nih.gov/33680459/]",['DO_cancer_slim'],"['ICDO:9367/3', 'NCI:C120224']",['DOID:0081249']
3135,0081251,papillary tumor of the pineal region,"""A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture."" [url:https\://pubmed.ncbi.nlm.nih.gov/29691144/]",['DO_cancer_slim'],"['ICDO:9395/3', 'NCI:C92624']",['DOID:5032']
3136,0081252,"supratentorial ependymoma, ZFTA fusion–positive","""A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene."" [url:https\://pubmed.ncbi.nlm.nih.gov/33879448/]",['DO_cancer_slim'],"['ICDO:9396/3', 'NCI:C186350']",['DOID:0080890']
3137,0081253,"supratentorial ependymoma, YAP1 fusion–positive","""A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene."" [url:https\://pubmed.ncbi.nlm.nih.gov/33879448/]",['DO_cancer_slim'],"['ICDO:9396/3', 'NCI:C186351']",['DOID:0080890']
3138,0081254,posterior fossa group A ependymoma,"""A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression."" [url:https\://pubmed.ncbi.nlm.nih.gov/29909548/]",['DO_cancer_slim'],"['ICDO:9396/3', 'NCI:C186450']",['DOID:0080889']
3139,0081255,posterior fossa group B ependymoma,"""A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression."" [url:https\://pubmed.ncbi.nlm.nih.gov/33902636/]",['DO_cancer_slim'],"['ICDO:9396/3', 'NCI:C186451']",['DOID:0080889']
3140,0081256,"astrocytoma, IDH-mutant, grade 2","""An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system."" [url:https\://pubmed.ncbi.nlm.nih.gov/35902341/]",['DO_cancer_slim'],"['ICDO:9400/3', 'NCI:C129271']",['DOID:0080875']
3141,0081257,"astrocytoma, IDH-mutant, grade 3","""An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features."" [url:https\://pubmed.ncbi.nlm.nih.gov/34377594/]",['DO_cancer_slim'],"['ICDO:9401/3', 'NCI:C129290']",['DOID:0080875']
3142,0081259,desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma,"""A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells."" [url:https\://pubmed.ncbi.nlm.nih.gov/31223403/, url:https\://pubmed.ncbi.nlm.nih.gov/35015431/]",['DO_cancer_slim'],"['ICDO:9412/1', 'NCI:C4738', 'NCI:C9476']",['DOID:5078']
3143,0081260,"diffuse low-grade glioma, MAPK pathway–altered","""A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma."" [url:https\://pubmed.ncbi.nlm.nih.gov/35562133/]",['DO_cancer_slim'],"['ICDO:9421/1', 'NCI:C185218']",['DOID:0080829']
3144,0081261,angiocentric glioma,"""A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation."" [url:https\://pubmed.ncbi.nlm.nih.gov/34863434/]",['DO_cancer_slim'],"['ICDO:9431/1', 'NCI:C92552']",['DOID:0080829']
3150,0081267,graft-versus-host disease,"""An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32."" [url:https\://pubmed.ncbi.nlm.nih.gov/31466596/, url:https\://www.ncbi.nlm.nih.gov/books/NBK538235/]",['DO_rare_slim'],"['ICD11:4B24', 'MESH:D006086', 'OMIM:614395', 'ORDO:39812']",['DOID:2914']
3159,0081276,"cerebellar atrophy, visual impairment, and psychomotor retardation","""A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36."" [url:https\://disorders.eyes.arizona.edu/disorders/cerebellar-atrophy-visual-impairment-and-psychomotor-retardation, url:https\://pubmed.ncbi.nlm.nih.gov/26942288/, url:https\://pubmed.ncbi.nlm.nih.gov/29271071/, url:https\://pubmed.ncbi.nlm.nih.gov/35234901/]",['DO_rare_slim'],"['OMIM:616875', 'ORDO:480898']",['DOID:225']
3160,0081277,"diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype","""A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations."" [url:https\://pubmed.ncbi.nlm.nih.gov/34858308/]",['DO_cancer_slim'],"['ICDO:9385/3', 'NCI:C185467']",['DOID:3070']
3162,0081279,"diffuse astrocytoma, MYB- or MYBL1-altered","""A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1."" [url:https\://pubmed.ncbi.nlm.nih.gov/35015431/]",['DO_cancer_slim'],"['ICDO:9421/1', 'NCI:C185196']",['DOID:4857']
3163,0081280,pituicytoma,"""A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements."" [url:https\://en.wikipedia.org/wiki/Pituicytoma, url:https\://pubmed.ncbi.nlm.nih.gov/36057248/, url:https\://pubmed.ncbi.nlm.nih.gov/36180358/]",['DO_cancer_slim'],"['ICDO:9432/1', 'NCI:C94524']",['DOID:5048']
3164,0081281,"oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2","""An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis)."" [url:https\://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html]",['DO_cancer_slim'],['ICDO:9450/3'],['DOID:0080882']
3165,0081282,"oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3","""An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas."" [url:https\://www.abta.org/tumor_types/oligodendroglioma/, url:https\://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html]",['DO_cancer_slim'],['ICDO:9451/3'],['DOID:0080882']
3166,0081283,papillary glioneuronal tumor,"""A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae."" [url:https\://pubmed.ncbi.nlm.nih.gov/35854961/]",['DO_cancer_slim'],"['ICDO:9509/1', 'NCI:C92554']",['DOID:0060090']
3167,0081284,rosette-forming glioneuronal tumor,"""A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers."" [url:https\://pubmed.ncbi.nlm.nih.gov/36230557/]",['DO_cancer_slim'],"['ICDO:9509/1', 'NCI:C129431']",['DOID:0060090']
3168,0081285,myxoid glioneuronal tumor,"""A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma."" [url:https\://pubmed.ncbi.nlm.nih.gov/34297434/]",['DO_cancer_slim'],"['ICDO:9509/1', 'NCI:C179229']",['DOID:0060090']
3169,0081286,embryonal tumor with multilayered rosettes,"""A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation."" [url:https\://pubmed.ncbi.nlm.nih.gov/36451902/]",['DO_cancer_slim'],"['ICDO:9478/3', 'NCI:C186534']",['DOID:0060103']
3172,0081289,Antley-Bixler syndrome,"""A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period."" [url:https\://rarediseases.org/rare-diseases/antley-bixler-syndrome/]",['DO_rare_slim'],['GARD:5826'],['DOID:2340']
3179,0081296,oculopharyngodistal myopathy,"""A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities."" [url:https\://jnnp.bmj.com/content/75/10/1499]",['DO_rare_slim'],"['GARD:12592', 'OMIM:PS164310', 'ORDO:98897']",['DOID:423']
3185,0081302,diffuse leptomeningeal glioneuronal tumor,"""A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma."" [url:https\://radiopaedia.org/articles/diffuse-leptomeningeal-glioneuronal-tumour?lang=us]",['DO_cancer_slim'],"['ICDO:9509/3', 'NCI:C129424']",['DOID:0060090']
3186,0081303,multinodular and vacuolating neuronal tumor,"""A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres."" [url:https\://radiopaedia.org/articles/multinodular-and-vacuolating-neuronal-tumour-1?lang=us]",['DO_cancer_slim'],"['ICDO:9509/0', 'NCI:C129427']",['DOID:0060090']
3187,0081304,high-grade astrocytoma with piloid features,"""An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa."" [url:https\://radiopaedia.org/articles/high-grade-astrocytoma-with-piloid-features-1?lang=us, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC8131327/]",['DO_cancer_slim'],"['ICDO:9421/3', 'NCI:C185879']",['DOID:3078']
3189,0081306,spindle cell oncocytoma,"""A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486883/]",['DO_cancer_slim'],"['ICDO:8290/0', 'NCI:C94537']",['DOID:5048']
3190,0081307,lymphomatoid granulomatosis,"""A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues."" [url:https\://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/]",['DO_cancer_slim'],"['ICDO:9766/1', 'NCI:C7930', 'UMLS_CUI:C0024307']",['DOID:0060704']
3195,0081312,T-cell non-Hodgkin lymphoma,"""A non-Hodgkin lymphoma of T-cell lineage."" [url:https\://www.cancer.org/cancer/non-hodgkin-lymphoma/treating/t-cell-lymphoma.html]",['DO_cancer_slim'],"['ICDO:9702/3', 'NCI:C3466', 'UMLS_CUI:C0079772']",['DOID:0060060']
3197,0081314,extraventricular neurocytoma,"""A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles."" [url:https\://pubmed.ncbi.nlm.nih.gov/24357019/]",['DO_cancer_slim'],"['ICDO:9506/1', 'NCI:C92555']",['DOID:3541']
3198,0081315,central nervous system tumor with BCOR internal tandem duplication,"""A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene."" [url:https\://pubmed.ncbi.nlm.nih.gov/35809497/]",['DO_cancer_slim'],"['ICDO:9500/3', 'NCI:C186556']",['DOID:0060103']
3199,0081316,"primary intracranial sarcoma, DICER1-mutant","""A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene."" [url:https\://pubmed.ncbi.nlm.nih.gov/35789272/]",['DO_cancer_slim'],"['ICDO:9480/3', 'NCI:C186610']",['DOID:2132']
3200,0081317,multiple synostoses syndrome 1,"""A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22."" [url:https\://pubmed.ncbi.nlm.nih.gov/11846737/]",['DO_rare_slim'],"['GARD:3836', 'OMIM:186500']",['DOID:0050794']
3201,0081318,multiple synostoses syndrome 2,"""A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11."" [url:https\://pubmed.ncbi.nlm.nih.gov/16532400/]",['DO_rare_slim'],"['GARD:9916', 'OMIM:610017']",['DOID:0050794']
3202,0081319,multiple synostoses syndrome 3,"""A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12."" [url:https\://pubmed.ncbi.nlm.nih.gov/28730625/]",['DO_rare_slim'],['OMIM:612961'],['DOID:0050794']
3203,0081320,multiple synostoses syndrome 4,"""A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22."" [url:https\://pubmed.ncbi.nlm.nih.gov/29130651/]",['DO_rare_slim'],['OMIM:617898'],['DOID:0050794']
3204,0081321,"contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A","""A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13."" [url:https\://pubmed.ncbi.nlm.nih.gov/29805041/]",['DO_rare_slim'],"['OMIM:178110', 'ORDO:65743']",['DOID:0080110']
3205,0081322,"contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B","""A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13."" [url:https\://pubmed.ncbi.nlm.nih.gov/29805041/]",['DO_rare_slim'],"['GARD:7111', 'OMIM:618469', 'ORDO:2990']",['DOID:0080110']
3253,0090001,Fraser syndrome,"""A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12766769, url:https\://www.ncbi.nlm.nih.gov/pubmed/15838507, url:https\://www.ncbi.nlm.nih.gov/pubmed/16894541, url:https\://www.ncbi.nlm.nih.gov/pubmed/22510445]",['DO_rare_slim'],"['GARD:6465', 'ICD10CM:Q87.0', 'MESH:D058497', 'OMIM:PS219000', 'ORDO:2052']",['DOID:225']
3254,0090002,Tietz syndrome,"""A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13."" [url:https\://ghr.nlm.nih.gov/condition/tietz-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/13985019, url:https\://www.ncbi.nlm.nih.gov/pubmed/8589691]",['DO_rare_slim'],"['GARD:7772', 'MESH:C536919', 'OMIM:103500', 'ORDO:42665']",['DOID:225']
3255,0090003,agenesis of the corpus callosum with peripheral neuropathy,"""A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12368912, url:https\://www.ncbi.nlm.nih.gov/pubmed/12838516]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:218000', 'ORDO:1496']",['DOID:1289']
3256,0090004,progressive pseudorheumatoid arthropathy of childhood,"""A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15215498, url:https\://www.ncbi.nlm.nih.gov/pubmed/15601861, url:https\://www.ncbi.nlm.nih.gov/pubmed/6807993]",['DO_rare_slim'],"['ICD10CM:Q77.7', 'OMIM:208230', 'ORDO:1159']",['DOID:2256']
3257,0090005,Schwartz-Jampel syndrome 1,"""A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11941538, url:https\://www.ncbi.nlm.nih.gov/pubmed/1552548, url:https\://www.ncbi.nlm.nih.gov/pubmed/18647752]",['DO_rare_slim'],"['GARD:250', 'ICD10CM:G71.1', 'OMIM:255800', 'ORDO:800']",['DOID:225']
3258,0090006,renal coloboma syndrome,"""A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10466411, url:https\://www.ncbi.nlm.nih.gov/pubmed/7795640]",['DO_rare_slim'],"['GARD:4106', 'ICD10CM:Q60.4', 'OMIM:120330', 'ORDO:1475']",['DOID:225']
3259,0090007,immunodeficiency-centromeric instability-facial anomalies syndrome,"""A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17893117, url:https\://www.ncbi.nlm.nih.gov/pubmed/26216346]",['DO_rare_slim'],"['ICD10CM:D84.8', 'OMIM:PS242860', 'ORDO:2268']",['DOID:225']
3264,0090012,severe combined immunodeficiency with sensitivity to ionizing radiation,"""A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11336668]",['DO_rare_slim'],"['ICD10CM:D81.1', 'MESH:C537589', 'OMIM:602450', 'ORDO:275']",['DOID:627']
3265,0090013,"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive","""A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1940786]",['DO_rare_slim'],"['ICD10CM:D81.1', 'MESH:C563311', 'OMIM:601457', 'ORDO:331206']",['DOID:627']
3266,0090014,"severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive","""A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9068311, url:https\://www.ncbi.nlm.nih.gov/pubmed/9843216]",['DO_rare_slim'],"['ICD10CM:D81.2', 'MESH:C563822', 'OMIM:608971', 'ORDO:169154']",['DOID:627']
3267,0090015,Cenani-Lenz syndactyly syndrome,"""A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18978656, url:https\://www.ncbi.nlm.nih.gov/pubmed/20381006, url:https\://www.ncbi.nlm.nih.gov/pubmed/6279340]",['DO_rare_slim'],"['GARD:5084', 'ICD10CM:Q78.4', 'OMIM:212780', 'ORDO:3258']",['DOID:1934']
3268,0090016,chromosome 5q deletion syndrome,"""A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18202658, url:https\://www.ncbi.nlm.nih.gov/pubmed/19898489, url:https\://www.ncbi.nlm.nih.gov/pubmed/25920683]",['DO_rare_slim'],"['GARD:10840', 'ICD10CM:D46.7', 'MESH:C535323', 'OMIM:153550', 'ORDO:86841']",['DOID:0060388']
3269,0090017,epidermolysis bullosa simplex with muscular dystrophy,"""An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2662909, url:https\://www.ncbi.nlm.nih.gov/pubmed/8696340]",['DO_rare_slim'],"['ICD10CM:Q81.0', 'OMIM:226670', 'ORDO:257']",['DOID:225']
3270,0090018,autosomal dominant familial periodic fever,"""A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10199409, url:https\://www.ncbi.nlm.nih.gov/pubmed/7156325]",['DO_rare_slim'],"['GARD:8457', 'ICD10CM:E85.0', 'OMIM:142680', 'ORDO:32960']",['DOID:612']
3271,0090019,sitosterolemia,"""An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11099417, url:https\://www.ncbi.nlm.nih.gov/pubmed/11138003]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7653', 'MESH:C537345', 'NCI:C125694', 'OMIM:210250', 'ORDO:2882', 'SNOMEDCT_US_2022_09_01:238104009', 'UMLS_CUI:C0342907']",['DOID:5295']
3272,0090020,split hand-foot malformation,"""A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12668597, url:https\://www.ncbi.nlm.nih.gov/pubmed/7802032]",['DO_rare_slim'],"['GARD:6319', 'MESH:C574275', 'NCI:C75000', 'OMIM:PS183600', 'ORDO:2440', 'SNOMEDCT_US_2022_09_01:81208006', 'UMLS_CUI:C0265554']",['DOID:0080006']
3273,0090021,split hand-foot malformation 1,"""A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24496061, url:https\://www.ncbi.nlm.nih.gov/pubmed/7616545]",['DO_rare_slim'],"['ICD10CM:Q71.6', 'OMIM:183600', 'ORDO:2440']",['DOID:0090020']
3274,0090022,split hand-foot malformation 5,"""A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10364522]",['DO_rare_slim'],"['MESH:C574275', 'NCI:C75000', 'OMIM:606708', 'ORDO:2440', 'SNOMEDCT_US_2022_09_01:81208006', 'UMLS_CUI:C0265554']",['DOID:0090020']
3275,0090023,split hand-foot malformation 4,"""A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 on chromosome 3q28."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10839977]",['DO_rare_slim'],"['MESH:C574275', 'NCI:C75000', 'OMIM:605289', 'ORDO:2440', 'SNOMEDCT_US_2022_09_01:81208006', 'UMLS_CUI:C0265554']",['DOID:0090020']
3276,0090024,split hand-foot malformation 1 with sensorineural hearing loss,"""A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22121204]",['DO_rare_slim'],"['ICD10CM:Q87.2', 'OMIM:220600', 'ORDO:71271']",['DOID:0090020']
3277,0090025,split hand-foot malformation 3,"""A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14699611]",['DO_rare_slim'],"['MESH:C574275', 'NCI:C75000', 'OMIM:246560', 'ORDO:2440', 'SNOMEDCT_US_2022_09_01:81208006', 'UMLS_CUI:C0265554']",['DOID:0090020']
3278,0090026,split hand-foot malformation 6,"""A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18515319]",['DO_rare_slim'],"['MESH:C574275', 'NCI:C75000', 'OMIM:225300', 'ORDO:2440', 'SNOMEDCT_US_2022_09_01:81208006', 'UMLS_CUI:C0265554']",['DOID:0090020']
3279,0090027,split hand-foot malformation 2,"""A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15617554]",['DO_rare_slim'],"['MESH:C574275', 'NCI:C75000', 'OMIM:313350', 'ORDO:2440', 'SNOMEDCT_US_2022_09_01:81208006', 'UMLS_CUI:C0265554']",['DOID:0090020']
3280,0090028,familial isolated deficiency of vitamin E,"""A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2298915, url:https\://www.ncbi.nlm.nih.gov/pubmed/7719340]",['DO_rare_slim'],"['MESH:C535393', 'NCI:C155996', 'OMIM:277460', 'ORDO:96', 'SNOMEDCT_US_2022_09_01:702442008', 'UMLS_CUI:C1848533']",['DOID:0050718']
3281,0090029,CINCA Syndrome,"""An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12032915, url:https\://www.ncbi.nlm.nih.gov/pubmed/7252669]",['DO_rare_slim'],"['ICD10CM:E85.0', 'OMIM:607115', 'ORDO:1451']",['DOID:417']
3282,0090030,corticosteroid-binding globulin deficiency,"""An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10634411, url:https\://www.ncbi.nlm.nih.gov/pubmed/7061486]",['DO_rare_slim'],"['GARD:13101', 'ICD10CM:E27.8', 'MESH:C565152', 'OMIM:611489', 'ORDO:199247']",['DOID:9553']
3283,0090031,D-bifunctional protein deficiency,"""A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2."" [url:https\://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency, url:https\://www.omim.org/entry/261515]",['DO_rare_slim'],"['GARD:4539', 'ICD10CM:E71.3', 'OMIM:261515', 'ORDO:300']",['DOID:906']
3284,0090032,Silverman-Handmaker type dyssegmental dysplasia,"""An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36."" [url:https\://ghr.nlm.nih.gov/gene/HSPG2#conditions, url:https\://www.omim.org/entry/224410]",['DO_rare_slim'],"['ICD10CM:Q77.7', 'OMIM:224410', 'ORDO:1865']",['DOID:2256']
3286,0090034,myoclonic dystonia 11,"""A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21."" [url:https\://ghr.nlm.nih.gov/condition/myoclonus-dystonia, url:https\://www.omim.org/entry/159900]",['DO_rare_slim'],"['ICD10CM:G24.1', 'OMIM:159900', 'ORDO:36899']",['DOID:0090033']
3287,0090035,myoclonic dystonia 15,"""A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11."" [url:https\://ghr.nlm.nih.gov/condition/myoclonus-dystonia, url:https\://www.omim.org/entry/607488]",['DO_rare_slim'],"['OMIM:607488', 'ORDO:210566']",['DOID:0090033']
3289,0090037,torsion dystonia 13,"""A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11261511, url:https\://www.omim.org/entry/607671]",['DO_rare_slim'],"['ICD10CM:G24.1', 'OMIM:607671', 'ORDO:98807']",['DOID:543']
3290,0090038,torsion dystonia 2,"""A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25799108, url:https\://www.omim.org/entry/224500]",['DO_rare_slim'],"['ICD10CM:G24.1', 'OMIM:224500', 'ORDO:99657']",['DOID:543']
3291,0090039,torsion dystonia 6,"""A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11."" [url:https\://ghr.nlm.nih.gov/condition/dystonia-6, url:https\://www.omim.org/entry/602629]",['DO_rare_slim'],"['ICD10CM:G24.1', 'OMIM:602629', 'ORDO:98806']",['DOID:0050835']
3293,0090041,torsion dystonia 4,"""A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/29127012, url:https\://www.omim.org/entry/128101]",['DO_rare_slim'],"['ICD10CM:G24.1', 'OMIM:128101', 'ORDO:98805']",['DOID:543']
3294,0090042,torsion dystonia 17,"""A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23596437, url:https\://www.omim.org/entry/612406]",['DO_rare_slim'],"['ICD10CM:G24.1', 'OMIM:612406', 'ORDO:370103']",['DOID:543']
3295,0090043,dystonia 5,"""A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13."" [url:https\://ghr.nlm.nih.gov/condition/dopa-responsive-dystonia, url:https\://www.ncbi.nlm.nih.gov/books/NBK1508/, url:https\://www.omim.org/entry/128230]",['DO_rare_slim'],"['ICD10CM:G24.1', 'OMIM:128230', 'ORDO:98808']",['DOID:543']
3296,0090044,dystonia 9,"""A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK1430/, url:https\://www.ncbi.nlm.nih.gov/pubmed/30616884, url:https\://www.omim.org/entry/601042]",['DO_rare_slim'],"['ICD10CM:G24.8', 'OMIM:601042', 'ORDO:53583']",['DOID:543']
3297,0090045,childhood onset GLUT1 deficiency syndrome 2,"""A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26336901, url:https\://www.omim.org/entry/612126]",['DO_rare_slim'],"['ICD10CM:G24.8', 'OMIM:612126', 'ORDO:98811']",['DOID:543']
3298,0090046,dystonia 21,"""A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21301909, url:https\://www.ncbi.nlm.nih.gov/pubmed/29770609, url:https\://www.omim.org/entry/614588]",['DO_rare_slim'],"['ICD10CM:G24.1', 'OMIM:614588', 'ORDO:306734']",['DOID:543']
3299,0090047,paroxysmal nonkinesigenic dyskinesia 2,"""A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31."" [url:https\://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia, url:https\://www.ncbi.nlm.nih.gov/pubmed/20425035, url:https\://www.ncbi.nlm.nih.gov/pubmed/22454269]",['DO_rare_slim'],"['ICD10CM:G24.8', 'MESH:C567001', 'OMIM:611147', 'ORDO:98810']",['DOID:543']
3300,0090048,dystonia 16,"""A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28283962, url:https\://www.ncbi.nlm.nih.gov/pubmed/29279192, url:https\://www.omim.org/entry/612067]",['DO_rare_slim'],"['GARD:10539', 'ICD10CM:G24.1', 'MESH:C567430', 'OMIM:612067', 'ORDO:210571']",['DOID:0050837']
3301,0090049,paroxysmal nonkinesigenic dyskinesia 1,"""A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35."" [url:https\://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia, url:https\://www.ncbi.nlm.nih.gov/pubmed/28090678]",['DO_rare_slim'],"['ICD10CM:G24.8', 'OMIM:118800', 'ORDO:98810']",['DOID:543']
3302,0090050,dystonia 27,"""A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26004199, url:https\://www.omim.org/entry/616411]",['DO_rare_slim'],"['ICD10CM:G24.1', 'OMIM:616411', 'ORDO:464440']",['DOID:0050838']
3303,0090051,dystonia 23,"""A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25296916, url:https\://www.omim.org/entry/614860]",['DO_rare_slim'],"['ICD10CM:G24.8', 'OMIM:614860', 'ORDO:420492']",['DOID:0050836']
3304,0090052,dystonia 24,"""A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30455893, url:https\://www.omim.org/entry/615034]",['DO_rare_slim'],"['ICD10CM:G24.8', 'OMIM:615034', 'ORDO:420485']",['DOID:0050836']
3305,0090053,episodic kinesigenic dyskinesia 1,"""A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11."" [url:https\://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia, url:https\://www.omim.org/entry/128200]",['DO_rare_slim'],"['GARD:8721', 'ICD10CM:G24.8', 'OMIM:128200', 'ORDO:98809']",['DOID:543']
3306,0090054,episodic kinesigenic dyskinesia 2,"""A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1."" [url:https\://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia, url:https\://www.omim.org/entry/611031]",['DO_rare_slim'],"['ICD10CM:G24.8', 'MESH:C567026', 'OMIM:611031', 'ORDO:98809']",['DOID:543']
3307,0090055,dystonia 25,"""A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28283962, url:https\://www.ncbi.nlm.nih.gov/pubmed/30660597, url:https\://www.omim.org/entry/615073]",['DO_rare_slim'],"['ICD10CM:G24.1', 'OMIM:615073', 'ORDO:329466']",['DOID:0050837']
3308,0090056,dystonia 12,"""A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13."" [url:https\://ghr.nlm.nih.gov/condition/rapid-onset-dystonia-parkinsonism, url:https\://www.omim.org/entry/128235]",['DO_rare_slim'],"['ICD10CM:G24.1', 'MESH:C538001', 'OMIM:128235', 'ORDO:71517']",['DOID:543']
3309,0090057,X-linked dystonia-parkinsonism,"""A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1."" [url:https\://ghr.nlm.nih.gov/condition/x-linked-dystonia-parkinsonism, url:https\://www.omim.org/entry/314250]",['DO_rare_slim'],"['GARD:10533', 'ICD10CM:G24.1', 'OMIM:314250', 'ORDO:53351']",['DOID:0050836']
3310,0090058,torsion dystonia with onset in infancy,"""A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8916165, url:https\://www.omim.org/entry/602554]",['DO_rare_slim'],"['ICD10CM:G24.1', 'MESH:C536969', 'OMIM:602554', 'ORDO:256']",['DOID:0050835']
3312,0090060,Wolcott-Rallison syndrome,"""A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30906465, url:https\://www.omim.org/entry/226980]",['DO_rare_slim'],"['ICD10CM:E13', 'MESH:C536739', 'OMIM:226980', 'ORDO:1667']",['DOID:225']
3313,0090061,familial cold autoinflammatory syndrome,"""A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia."" [url:https\://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome, url:https\://rarediseases.org/rare-diseases/familial-cold-autoinflammatory-syndrome/]",['DO_rare_slim'],"['ICD10CM:L50.2', 'OMIM:PS120100', 'ORDO:47045']",['DOID:612']
3314,0090062,familial cold autoinflammatory syndrome 1,"""A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11687797]",['DO_rare_slim'],"['ICD10CM:L50.2', 'OMIM:120100', 'ORDO:47045']",['DOID:0090061']
3316,0090064,familial cold autoinflammatory syndrome 3,"""A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with.  FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22236196]",['DO_rare_slim'],"['ICD10CM:L50.2', 'OMIM:614468', 'ORDO:300359']",['DOID:0090061']
3317,0090065,familial cold autoinflammatory syndrome 4,"""A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25385754]",['DO_rare_slim'],"['ICD10CM:L50.2', 'OMIM:616115', 'ORDO:47045']",['DOID:0090061']
3319,0090067,Fuhrmann syndrome,"""A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28917830, url:https\://www.omim.org/entry/228930]",['DO_rare_slim'],"['GARD:2410', 'ICD10CM:Q74.8', 'MESH:C538189', 'OMIM:228930', 'ORDO:2854']",['DOID:0080006']
3320,0090068,giant axonal neuropathy 1,"""An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23."" [url:https\://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/30709364, url:https\://www.omim.org/entry/256850]",['DO_rare_slim'],"['MESH:D056768', 'OMIM:256850', 'ORDO:643']",['DOID:7319']
3322,0090070,hypogonadotropic hypogonadism,"""A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17761590]",['DO_rare_slim'],"['ICD10CM:E23.0', 'OMIM:PS147950', 'ORDO:432', 'ORDO:478']",['DOID:1924']
3340,0090088,hypogonadotropic hypogonadism 24 without anosmia,"""A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8220432, url:https\://www.ncbi.nlm.nih.gov/pubmed/9271483]",['DO_rare_slim'],"['ICD10CM:E23.6', 'OMIM:229070', 'ORDO:52901']",['DOID:0090070']
3343,0090091,hypogonadotropic hypogonadism 23 with or without anosmia,"""A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1727547, url:https\://www.ncbi.nlm.nih.gov/pubmed/22723313]",['DO_rare_slim'],"['ICD10CM:Q56.1', 'OMIM:228300', 'ORDO:325448']",['DOID:0090070']
3347,0090100,ocular albinism with sensorineural deafness,"""An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates."" [url:https\://ghr.nlm.nih.gov/condition/ocular-albinism, url:https\://www.ncbi.nlm.nih.gov/pubmed/28356565, url:https\://www.ncbi.nlm.nih.gov/pubmed/29531335, url:https\://www.omim.org/entry/103470]",['DO_rare_slim'],"['ICD10CM:E70.3', 'ORDO:352740']",['DOID:0050633']
3348,0090101,lethal congenital glycogen storage disease of heart,"""A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36."" [url:https\://ghr.nlm.nih.gov/gene/PRKAG2#conditions, url:https\://www.omim.org/entry/261740]",['DO_rare_slim'],"['ICD10CM:E74.0+', 'ICD10CM:G73.6*', 'OMIM:261740', 'ORDO:439854']",['DOID:2747']
3349,0090102,autosomal dominant macrothrombocytopenia TUBB1-related,"""A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27291889, url:https\://www.ncbi.nlm.nih.gov/pubmed/27905099, url:https\://www.omim.org/entry/613112]",['DO_rare_slim'],"['ICD10CM:D69.4', 'OMIM:613112', 'ORDO:140957']",['DOID:1588']
3350,0090103,Huntington's disease-like 1,"""A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13."" [url:https\://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome, url:https\://www.omim.org/entry/603218]",['DO_rare_slim'],"['ICD10CM:G10', 'OMIM:603218', 'ORDO:157941']",['DOID:649']
3351,0090104,Huntington's disease-like 2,"""A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24."" [url:https\://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome, url:https\://www.omim.org/entry/606438]",['DO_rare_slim'],"['ICD10CM:G10', 'OMIM:606438', 'ORDO:98934']",['DOID:1289']
3352,0090105,autosomal recessive hypercholesterolemia,"""A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36."" [url:https\://ghr.nlm.nih.gov/condition/hypercholesterolemia, url:https\://www.omim.org/entry/603813]",['DO_rare_slim'],"['ICD10CM:E78.0', 'OMIM:603813', 'ORDO:391665']",['DOID:13810']
3353,0090106,BH4-deficient hyperphenylalaninemia A,"""A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1."" [url:https\://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency, url:https\://www.omim.org/entry/261640]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5682', 'MESH:C535325', 'NCI:C138171', 'OMIM:261640', 'ORDO:13', 'SNOMEDCT_US_2022_09_01:237914002', 'UMLS_CUI:C0878676']",['DOID:0081132']
3356,0090109,autosomal dominant hypocalcemia,"""A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone."" [url:https\://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia, url:https\://www.ncbi.nlm.nih.gov/pubmed/27803672]",['DO_rare_slim'],"['GARD:2877', 'ICD10CM:E20.8', 'OMIM:PS601198', 'ORDO:428']",['DOID:896']
3357,0090110,immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome,"""An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11."" [url:https\://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome, url:https\://www.omim.org/entry/304790]",['DO_rare_slim'],"['GARD:1850', 'ICD10CM:E31.0', 'MESH:C580192', 'OMIM:304790', 'ORDO:37042']",['DOID:417']
3358,0090111,PCWH syndrome,"""A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13."" [url:https\://ghr.nlm.nih.gov/gene/SOX10#conditions, url:https\://www.omim.org/entry/609136]",['DO_rare_slim'],"['ICD10CM:E75.2', 'OMIM:609136', 'ORDO:163746']",['DOID:225']
3359,0090112,Nasu-Hakola disease,"""A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21."" [url:https\://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy, url:https\://www.ncbi.nlm.nih.gov/pubmed/30042649, url:https\://www.omim.org/entry/221770]",['DO_rare_slim'],"['GARD:9921', 'MESH:C536329', 'OMIM:221770', 'ORDO:2770', 'SNOMEDCT_US_2022_09_01:702347001', 'UMLS_CUI:C1857316']",['DOID:225']
3360,0090113,RIDDLE syndrome,"""A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/29255463, url:https\://www.ncbi.nlm.nih.gov/pubmed/30122534, url:https\://www.omim.org/entry/611943]",['DO_rare_slim'],"['ICD10CM:D82.8', 'MESH:C567453', 'OMIM:611943', 'ORDO:420741']",['DOID:225']
3362,0090115,spinocerebellar ataxia type 1 with axonal neuropathy,"""A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11."" [url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94124]",['DO_rare_slim'],"['GARD:10000', 'ICD10CM:G60.2', 'OMIM:607250', 'ORDO:94124']",['DOID:863']
3363,0090116,spondylocarpotarsal synostosis syndrome,"""A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3."" [url:https\://ghr.nlm.nih.gov/condition/spondylocarpotarsal-synostosis-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/29566257, url:https\://www.omim.org/entry/272460]",['DO_rare_slim'],"['GARD:4974', 'ICD10CM:Q76.4', 'OMIM:272460', 'ORDO:3275']",['DOID:0080006']
3364,0090117,thiamine-responsive megaloblastic anemia syndrome,"""A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24."" [url:https\://ghr.nlm.nih.gov/condition/thiamine-responsive-megaloblastic-anemia-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1282/, url:https\://www.omim.org/entry/249270]",['DO_rare_slim'],"['GARD:9210', 'MESH:C536510', 'OMIM:249270', 'ORDO:498277', 'SNOMEDCT_US_2022_09_01:237617006', 'UMLS_CUI:C0342287']",['DOID:225']
3365,0090118,congenital amegakaryocytic thrombocytopenia,"""A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/29191945, url:https\://www.ncbi.nlm.nih.gov/pubmed/29384262, url:https\://www.omim.org/entry/604498]","['DO_rare_slim', 'NCIthesaurus']","['GARD:640', 'MESH:C535982', 'NCI:C115207', 'OMIM:604498', 'ORDO:3319', 'SNOMEDCT_US_2022_09_01:716336002', 'UMLS_CUI:C1327915']",['DOID:1588']
3366,0090119,ankyloblepharon-ectodermal defects-cleft lip/palate syndrome,"""An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27."" [url:https\://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/29339502, url:https\://www.ncbi.nlm.nih.gov/pubmed/29956718, url:https\://www.omim.org/entry/106260]",['DO_rare_slim'],"['MESH:C535289', 'OMIM:106260', 'ORDO:1071', 'SNOMEDCT_US_2022_09_01:7731005', 'UMLS_CUI:C1785148']",['DOID:2121']
3367,0090120,hereditary neutrophilia,"""A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25189721, url:https\://www.omim.org/entry/162830]",['DO_rare_slim'],"['MESH:C563010', 'OMIM:162830', 'ORDO:279943', 'SNOMEDCT_US_2022_09_01:129639005', 'UMLS_CUI:C0543669']",['DOID:9500']
3368,0090122,aromatase excess syndrome,"""A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene."" [url:https\://ghr.nlm.nih.gov/condition/aromatase-excess-syndrome, url:https\://www.omim.org/entry/139300]",['DO_rare_slim'],"['GARD:12949', 'ICD10CM:E30.1', 'OMIM:139300', 'ORDO:178345']",['DOID:15']
3369,0090123,aromatic L-amino acid decarboxylase deficiency,"""An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12."" [url:https\://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency, url:https\://www.omim.org/entry/608643]",['DO_rare_slim'],"['GARD:770', 'ICD10CM:E70.81', 'MESH:C537437', 'NCI:C142085', 'OMIM:608643', 'ORDO:35708', 'SNOMEDCT_US_2022_09_01:124600004', 'UMLS_CUI:C1291564']",['DOID:655']
3370,0090124,neurogenic-type arthrogryposis multiplex congenita-2,"""An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28317099, url:https\://www.omim.org/entry/208100]",['DO_rare_slim'],"['MESH:C536614', 'OMIM:208100', 'ORDO:1143', 'SNOMEDCT_US_2022_09_01:715316005', 'UMLS_CUI:C1859721']",['DOID:0080954']
3371,0090125,brain small vessel disease 1,"""A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34."" [url:https\://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease, url:https\://ghr.nlm.nih.gov/condition/familial-porencephaly, url:https\://www.omim.org/entry/175780]",['DO_rare_slim'],"['OMIM:175780', 'ORDO:36383']",['DOID:0112313']
3372,0090126,branched-chain keto acid dehydrogenase kinase deficiency,"""An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24449431, url:https\://www.omim.org/entry/614901]",['DO_rare_slim'],"['ICD10CM:E71.1', 'OMIM:614923', 'ORDO:308410']",['DOID:9252']
3373,0090127,camptodactyly-arthropathy-coxa vara-pericarditis syndrome,"""A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/29397575, url:https\://www.omim.org/entry/208250]",['DO_rare_slim'],"['MESH:C537560', 'OMIM:208250', 'ORDO:2848', 'SNOMEDCT_US_2022_09_01:771187008', 'UMLS_CUI:C1859690']",['DOID:225']
3374,0090128,Carvajal syndrome,"""A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24."" [url:https\://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair, url:https\://www.omim.org/entry/605676]",['DO_rare_slim'],"['GARD:5595', 'MESH:C535581', 'OMIM:605676', 'ORDO:65282']",['DOID:0080551']
3375,0090129,carnitine palmitoyltransferase I deficiency,"""A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13."" [url:https\://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency, url:https\://www.omim.org/entry/255120]",['DO_rare_slim'],"['GARD:1120', 'ICD10CM:E71.3', 'OMIM:255120', 'ORDO:156']",['DOID:3146']
3376,0090130,cortical dysplasia-focal epilepsy syndrome,"""A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27439707, url:https\://www.omim.org/entry/610042]",['DO_rare_slim'],"['ICD10CM:Q04.8', 'MESH:C567657', 'OMIM:610042', 'ORDO:163681']",['DOID:936']
3378,0090132,complex cortical dysplasia with other brain malformations 7,"""A complex cortical dysplasia with other brain malformations that is characterized by abnromalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25."" [url:https\://ghr.nlm.nih.gov/condition/polymicrogyria, url:https\://www.ncbi.nlm.nih.gov/pubmed/30016746, url:https\://www.omim.org/entry/610031]",['DO_rare_slim'],"['OMIM:610031', 'ORDO:300573']",['DOID:0090131']
3383,0090137,complex cortical dysplasia with other brain malformations 1,"""A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK350554/, url:https\://www.ncbi.nlm.nih.gov/pubmed/30016746, url:https\://www.omim.org/entry/614039]",['DO_rare_slim'],"['ICD10CM:Q04.3', 'OMIM:614039', 'ORDO:300570']",['DOID:0090131']
3385,0090139,cortisone reductase deficiency,"""An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism."" [url:https\://en.wikipedia.org/wiki/Cortisone_reductase_deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/22476103]",['DO_rare_slim'],"['GARD:9882', 'MESH:C536447', 'OMIM:PS604931']",['DOID:28']
3386,0090140,cortisone reductase deficiency 2,"""A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/29843121, url:https\://www.omim.org/entry/614662]",['NCIthesaurus'],"['NCI:C131084', 'OMIM:614662']",['DOID:0090139']
3387,0090141,cortisone reductase deficiency 1,"""A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/29843121, url:https\://www.omim.org/entry/604931]",['NCIthesaurus'],"['NCI:C131849', 'OMIM:604931']",['DOID:0090139']
3388,0090142,cystathioninuria,"""An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20584029, url:https\://www.omim.org/entry/219500]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2428', 'ICD10CM:E72.19', 'MESH:C535408', 'NCI:C129070', 'OMIM:219500', 'ORDO:212', 'SNOMEDCT_US_2022_09_01:13003007', 'SNOMEDCT_US_2022_09_01:6885006', 'UMLS_CUI:C0220993', 'UMLS_CUI:C0268616']",['DOID:9252']
3389,0090143,brachyolmia-amelogenesis imperfecta syndrome,"""A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30887145, url:https\://www.omim.org/entry/601216]",['DO_rare_slim'],"['GARD:5478', 'ICD10CM:Q76.3', 'OMIM:601216', 'ORDO:2899']",['DOID:225']
3390,0090144,Donnai-Barrow syndrome,"""A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31."" [url:https\://ghr.nlm.nih.gov/condition/donnai-barrow-syndrome, url:https\://www.omim.org/entry/222448]",['DO_rare_slim'],"['GARD:1899', 'MESH:C536390', 'OMIM:222448', 'ORDO:2143', 'SNOMEDCT_US_2022_09_01:702418009', 'UMLS_CUI:C1857277']",['DOID:225']
3391,0090145,dopamine beta-hydroxylase deficiency,"""An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34."" [url:https\://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency, url:https\://www.omim.org/entry/223360]",['DO_rare_slim'],"['GARD:1903', 'MESH:C535600', 'OMIM:223360', 'ORDO:230', 'SNOMEDCT_US_2022_09_01:237923004', 'UMLS_CUI:C0342687']",['DOID:655']
3392,0110000,3-methylglutaconic aciduria type 5,"""A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16055927]",['DO_rare_slim'],"['OMIM:610198', 'ORDO:66634']",['DOID:0060336']
3393,0110001,"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome","""A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22683713]",['DO_rare_slim'],"['OMIM:614739', 'ORDO:352328']",['DOID:0060336']
3394,0110002,3-methylglutaconic aciduria type 1,"""A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22."" [url:https\://pubmed.ncbi.nlm.nih.gov/12434311/]",['DO_rare_slim'],"['MESH:C562801', 'OMIM:250950', 'ORDO:67046']",['DOID:0060336']
3395,0110003,"3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia","""A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25597510]",['DO_rare_slim'],"['OMIM:616271', 'ORDO:445038']",['DOID:0060336']
3396,0110004,3-methylglutaconic aciduria type 3,"""A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11668429, url:https\://www.ncbi.nlm.nih.gov/pubmed/12126933]",['DO_rare_slim'],"['OMIM:258501', 'ORDO:67047']",['DOID:0060336']
3398,0110006,3-methylglutaconic aciduria type 4,"""A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21646875]",['DO_rare_slim'],"['MESH:C565393', 'OMIM:250951', 'ORDO:67048']",['DOID:0060336']
3399,0110007,achromatopsia 2,"""An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11536077, url:https\://www.ncbi.nlm.nih.gov/pubmed/9662398]",['DO_rare_slim'],"['GARD:9649', 'MESH:C536128', 'OMIM:216900']",['DOID:13911']
3400,0110008,achromatopsia 3,"""An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10888875, url:https\://www.ncbi.nlm.nih.gov/pubmed/17265047]",['DO_rare_slim'],"['GARD:9650', 'MESH:C536129', 'OMIM:262300']",['DOID:13911']
3421,0110029,alpha thalassemia-intellectual disability syndrome type 1,"""An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15921166, url:https\://www.ncbi.nlm.nih.gov/pubmed/18076105]",['DO_rare_slim'],"['ICD10CM:D56.0', 'OMIM:141750', 'ORDO:98791']",['DOID:1099']
3422,0110030,alpha thalassemia-X-linked intellectual disability syndrome,"""An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1415255, url:https\://www.ncbi.nlm.nih.gov/pubmed/7697714]",['DO_rare_slim'],"['GARD:5864', 'ICD10CM:D56.0', 'OMIM:301040', 'ORDO:847']",['DOID:1099']
3423,0110031,hemoglobin H disease,"""An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12393486]",['DO_rare_slim'],"['ICD10CM:D56.0', 'OMIM:613978', 'ORDO:93616']",['DOID:1099']
3424,0110032,autosomal dominant Alport syndrome,"""An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11044206]",['DO_rare_slim'],"['GARD:624', 'OMIM:104200', 'ORDO:88918']",['DOID:10983']
3425,0110033,autosomal recessive Alport syndrome,"""An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25575550]",['DO_rare_slim'],"['GARD:625', 'OMIM:203780', 'ORDO:88919']",['DOID:10983']
3426,0110034,X-linked Alport syndrome,"""An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2349482]",['DO_rare_slim'],"['OMIM:301050', 'ORDO:88917']",['DOID:10983']
3440,0110048,Alzheimer's disease 15,"""An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17564960]",['DO_rare_slim'],"['GARD:7190', 'ICD10CM:G30', 'OMIM:604154']",['DOID:10652']
3449,0110057,amelogenesis imperfecta type 2A1,"""An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15235027, url:https\://www.ncbi.nlm.nih.gov/pubmed/23355523]",['DO_rare_slim'],"['GARD:9495', 'ICD10CM:K00.5', 'OMIM:204700']",['DOID:2187']
3458,0110066,amelogenesis imperfecta type 1G,"""An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23468644, url:https\://www.ncbi.nlm.nih.gov/pubmed/24196488]",['DO_rare_slim'],"['ICD10CM:K00.5', 'OMIM:204690', 'ORDO:1031']",['DOID:2187']
3503,0110112,atrial heart septal defect 7,"""An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9651244]",['DO_rare_slim'],"['ICD10CM:Q21.1', 'OMIM:108900', 'ORDO:1479']",['DOID:1882']
3507,0110116,autoimmune lymphoproliferative syndrome type 2B,"""An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12353035]",['DO_rare_slim'],"['ICD10CM:D47.9', 'OMIM:607271', 'ORDO:275517']",['DOID:6688']
3508,0110117,autoimmune lymphoproliferative syndrome type 4,"""An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12."" [url:https\://pubmed.ncbi.nlm.nih.gov/24240292/]",['DO_rare_slim'],"['ICD10CM:D72.8', 'OMIM:614470', 'ORDO:268114']",['DOID:6688']
3514,0110123,Bardet-Biedl syndrome 1,"""A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20177705]",['DO_rare_slim'],"['GARD:820', 'ICD10CM:Q87.89', 'MESH:C537909', 'OMIM:209900']",['DOID:1935']
3515,0110124,Bardet-Biedl syndrome 2,"""A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16823392]",['DO_rare_slim'],"['GARD:821', 'ICD10CM:Q87.89', 'MESH:C537910', 'OMIM:615981']",['DOID:1935']
3516,0110125,Bardet-Biedl syndrome 3,"""A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15314642]",['DO_rare_slim'],"['GARD:822', 'ICD10CM:Q87.89', 'MESH:C537911', 'OMIM:600151']",['DOID:1935']
3517,0110126,Bardet-Biedl syndrome 4,"""A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11381270]",['DO_rare_slim'],"['GARD:823', 'ICD10CM:Q87.89', 'MESH:C537912', 'OMIM:615982']",['DOID:1935']
3518,0110127,Bardet-Biedl syndrome 5,"""A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15137946]",['DO_rare_slim'],"['GARD:10204', 'ICD10CM:Q87.89', 'OMIM:615983']",['DOID:1935']
3519,0110128,Bardet-Biedl syndrome 6,"""A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10973238, url:https\://www.ncbi.nlm.nih.gov/pubmed/10973251]",['DO_rare_slim'],"['GARD:10205', 'ICD10CM:Q87.89', 'MESH:C565738', 'OMIM:605231']",['DOID:1935']
3520,0110129,Bardet-Biedl syndrome 7,"""A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12567324]",['DO_rare_slim'],"['GARD:10206', 'ICD10CM:Q87.89', 'MESH:C565916', 'OMIM:615984']",['DOID:1935']
3521,0110130,Bardet-Biedl syndrome 8,"""A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14520415, url:https\://www.ncbi.nlm.nih.gov/pubmed/16308660]",['DO_rare_slim'],"['GARD:10207', 'ICD10CM:Q87.89', 'MESH:C565917', 'OMIM:615985']",['DOID:1935']
3522,0110131,Bardet-Biedl syndrome 9,"""A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16380913]",['DO_rare_slim'],"['GARD:10208', 'ICD10CM:Q87.89', 'MESH:C565918', 'OMIM:615986']",['DOID:1935']
3523,0110132,Bardet-Biedl syndrome 10,"""A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16582908]",['DO_rare_slim'],"['GARD:10209', 'ICD10CM:Q87.89', 'MESH:C565919', 'OMIM:615987']",['DOID:1935']
3524,0110133,Bardet-Biedl syndrome 11,"""A Bardet-Biedl syndrome that has_material_basis_in mutation in the TRIM32 gene on chromosome 9q33."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16606853]",['DO_rare_slim'],"['GARD:10210', 'ICD10CM:Q87.89', 'MESH:C565920', 'OMIM:615988']",['DOID:1935']
3525,0110134,Bardet-Biedl syndrome 12,"""A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17160889, url:https\://www.ncbi.nlm.nih.gov/pubmed/19797195]",['DO_rare_slim'],"['GARD:10211', 'ICD10CM:Q87.89', 'MESH:C565921', 'OMIM:615989']",['DOID:1935']
3535,0110144,Bartter disease type 3,"""A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9326936]",['DO_rare_slim'],"['GARD:9659', 'ICD10CM:E26.8', 'OMIM:607364']",['DOID:445']
3539,0110148,Charcot-Marie-Tooth disease type 1A,"""A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1677316, url:https\://www.ncbi.nlm.nih.gov/pubmed/21326314]",['DO_rare_slim'],"['GARD:1245', 'ICD10CM:G60.0', 'OMIM:118220', 'ORDO:101081']",['DOID:0050538']
3540,0110149,Charcot-Marie-Tooth disease type 1F,"""A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12566280]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:607734', 'ORDO:101085']",['DOID:0050538']
3541,0110150,Charcot-Marie-Tooth disease type 1D,"""A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9537424]",['DO_rare_slim'],"['ICD10CM:G60.0', 'MESH:C537985', 'OMIM:607678', 'ORDO:101084']",['DOID:0050538']
3542,0110151,Charcot-Marie-Tooth disease type 1C,"""A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12525712]",['DO_rare_slim'],"['ICD10CM:G60.0', 'MESH:C537984', 'OMIM:601098', 'ORDO:101083']",['DOID:0050538']
3543,0110152,Charcot-Marie-Tooth disease type 1B,"""A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7693129]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:118200', 'ORDO:101082']",['DOID:0050538']
3544,0110153,Charcot-Marie-Tooth disease type 1E,"""A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10330345]",['DO_rare_slim'],"['GARD:9190', 'ICD10CM:G60.0', 'OMIM:118300', 'ORDO:90658']",['DOID:0050538']
3545,0110154,Charcot-Marie-Tooth disease type 2A1,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11389829]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:118210', 'ORDO:99946']",['DOID:0050539']
3546,0110155,Charcot-Marie-Tooth disease type 2A2A,"""A Charcot-Marie-Tooth disease type 2  that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15064763, url:https\://www.ncbi.nlm.nih.gov/pubmed/19889647]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:609260', 'ORDO:99947']",['DOID:0050539']
3547,0110156,Charcot-Marie-Tooth disease type 2B1,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11799477]",['DO_rare_slim'],"['ICD10CM:G60.0', 'MESH:C537990', 'OMIM:605588', 'ORDO:98856']",['DOID:0050539']
3548,0110157,Charcot-Marie-Tooth disease type 2J,"""A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10071056]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:607736', 'ORDO:99943']",['DOID:0050539']
3549,0110158,Charcot-Marie-Tooth disease type 2I,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10071056]",['DO_rare_slim'],"['ICD10CM:G60.0', 'MESH:C535416', 'OMIM:607677', 'ORDO:99942']",['DOID:0050539']
3550,0110159,Charcot-Marie-Tooth disease type 2B,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12545426]",['DO_rare_slim'],"['GARD:9192', 'ICD10CM:G60.0', 'MESH:C537989', 'OMIM:600882', 'ORDO:99936']",['DOID:0050539']
3551,0110160,Charcot-Marie-Tooth disease axonal type 2T,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26991897]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:617017', 'ORDO:443950']",['DOID:0050539']
3552,0110161,Charcot-Marie-Tooth disease type 2R,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23562820, url:https\://www.ncbi.nlm.nih.gov/pubmed/25893792]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:615490', 'ORDO:397968']",['DOID:0050539']
3554,0110163,Charcot-Marie-Tooth disease axonal type 2F,"""A Charcot-Marie-Tooth  disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15122254]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:606595', 'ORDO:99940']",['DOID:0050539']
3555,0110164,Charcot-Marie-Tooth disease type 2D,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12690580]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:601472', 'ORDO:99938']",['DOID:0050539']
3556,0110165,Charcot-Marie-Tooth disease type 2E,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10841809, url:https\://www.ncbi.nlm.nih.gov/pubmed/17620486]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:607684', 'ORDO:99939']",['DOID:0050539']
3557,0110166,Charcot-Marie-Tooth disease axonal type 2H,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11166163]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:607731', 'ORDO:101102']",['DOID:0050539']
3558,0110167,Charcot-Marie-Tooth disease axonal type 2K,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12707075]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:607831', 'ORDO:101097']",['DOID:0050539']
3559,0110168,Charcot-Marie-Tooth disease type 2Y,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25125609]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:616687', 'ORDO:435387']",['DOID:0050539']
3560,0110169,Charcot-Marie-Tooth disease axonal type 2P,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20865121]",['DO_rare_slim'],"['GARD:12435', 'ICD10CM:G60.0', 'OMIM:614436', 'ORDO:300319']",['DOID:0050539']
3561,0110170,Charcot-Marie-Tooth disease axonal type 2Q,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23141294]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:615025', 'ORDO:329258']",['DOID:0050539']
3562,0110171,Charcot-Marie-Tooth disease axonal type 2S,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25439726]",['DO_rare_slim'],"['OMIM:616155', 'ORDO:443073']",['DOID:0050539']
3563,0110173,Charcot-Marie-Tooth disease axonal type 2U,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23729695]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:616280', 'ORDO:397735']",['DOID:0050539']
3564,0110174,Charcot-Marie-Tooth disease axonal type 2L,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15565283]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:608673', 'ORDO:99945']",['DOID:0050539']
3565,0110175,Charcot-Marie-Tooth disease axonal type 2O,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21820100]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:614228', 'ORDO:284232']",['DOID:0050539']
3566,0110176,Charcot-Marie-Tooth disease axonal type 2X,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26556829]",['DO_rare_slim'],"['OMIM:616668', 'ORDO:466775']",['DOID:0050539']
3567,0110177,Charcot-Marie-Tooth disease axonal type 2N,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20045102]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:613287', 'ORDO:228174']",['DOID:0050539']
3568,0110178,Charcot-Marie-Tooth disease axonal type 2V,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25818867]",['DO_rare_slim'],"['OMIM:616491', 'ORDO:447964']",['DOID:0050539']
3569,0110179,Charcot-Marie-Tooth disease type 2B2,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19290556]",['DO_rare_slim'],"['ICD10CM:G60.0', 'MESH:C537991', 'OMIM:605589', 'ORDO:101101']",['DOID:0050539']
3571,0110181,Charcot-Marie-Tooth disease axonal type 2Z,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26497905]",['DO_rare_slim'],"['OMIM:616688', 'ORDO:466768']",['DOID:0050539']
3572,0110182,Charcot-Marie-Tooth disease axonal type 2C,"""A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20037588]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:606071', 'ORDO:99937']",['DOID:0050539']
3573,0110183,Charcot-Marie-Tooth disease type 4C,"""A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14574644]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:601596', 'ORDO:99949']",['DOID:0050541']
3574,0110184,Charcot-Marie-Tooth disease type 4J,"""A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17572665]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:611228', 'ORDO:139515']",['DOID:0050541']
3575,0110185,Charcot-Marie-Tooth disease type 4A,"""A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11743579]",['DO_rare_slim'],"['ICD10CM:G60.0', 'MESH:C535419', 'OMIM:214400', 'ORDO:99948']",['DOID:0050541']
3576,0110186,Charcot-Marie-Tooth disease type 4D,"""A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10831399]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:601455', 'ORDO:99950']",['DOID:0050541']
3577,0110187,Charcot-Marie-Tooth disease type 4K,"""A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24027061]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:616684', 'ORDO:391351']",['DOID:0050541']
3580,0110190,Charcot-Marie-Tooth disease type 4B2,"""A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12554688]",['DO_rare_slim'],"['GARD:9200', 'ICD10CM:G60.0', 'MESH:C535421', 'OMIM:604563', 'ORDO:99956']",['DOID:0050541']
3581,0110191,Charcot-Marie-Tooth disease type 4B1,"""A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10802647]",['DO_rare_slim'],"['ICD10CM:G60.0', 'MESH:C535420', 'OMIM:601382', 'ORDO:99955']",['DOID:0050541']
3582,0110192,Charcot-Marie-Tooth disease type 4H,"""A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15744041, url:https\://www.ncbi.nlm.nih.gov/pubmed/17564959]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:609311', 'ORDO:99954']",['DOID:0050541']
3583,0110193,Charcot-Marie-Tooth disease type 4F,"""A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11157804]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:614895', 'ORDO:99952']",['DOID:0050541']
3584,0110194,Charcot-Marie-Tooth disease type 4B3,"""A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23749797]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:615284', 'ORDO:363981']",['DOID:0050541']
3585,0110195,Charcot-Marie-Tooth disease type 4E,"""A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15184631, url:https\://www.ncbi.nlm.nih.gov/pubmed/9537424]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:605253', 'ORDO:99951']",['DOID:0050541']
3586,0110196,Charcot-Marie-Tooth disease type 4G,"""A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19536174]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:605285', 'ORDO:99953']",['DOID:0050541']
3587,0110197,Charcot-Marie-Tooth disease dominant intermediate B,"""A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15731758]",['DO_rare_slim'],"['ICD10CM:G60.0', 'MESH:C564703', 'OMIM:606482', 'ORDO:100044']",['DOID:0050543']
3588,0110198,Charcot-Marie-Tooth disease recessive intermediate C,"""A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23777631]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:615376', 'ORDO:369867']",['DOID:0050543']
3589,0110199,Charcot-Marie-Tooth disease dominant intermediate C,"""A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16429158]",['DO_rare_slim'],"['ICD10CM:G60.0', 'MESH:C564257', 'OMIM:608323', 'ORDO:100045']",['DOID:0050543']
3590,0110200,Charcot-Marie-Tooth disease dominant intermediate D,"""A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10406984]",['DO_rare_slim'],"['ICD10CM:G60.0', 'MESH:C564333', 'OMIM:607791', 'ORDO:100046']",['DOID:0050543']
3591,0110201,Charcot-Marie-Tooth disease recessive intermediate A,"""A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12499475]",['DO_rare_slim'],"['MESH:C564256', 'OMIM:608340', 'ORDO:217055']",['DOID:0050543']
3592,0110202,Charcot-Marie-Tooth disease dominant intermediate A,"""A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11533914]",['DO_rare_slim'],"['ICD10CM:G60.0', 'MESH:C564702', 'OMIM:606483', 'ORDO:100043']",['DOID:0050543']
3593,0110203,Charcot-Marie-Tooth disease recessive intermediate D,"""A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25152455]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:616039', 'ORDO:435998']",['DOID:0050543']
3594,0110204,Charcot-Marie-Tooth disease recessive intermediate B,"""A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20920668]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:613641', 'ORDO:254334']",['DOID:0050543']
3595,0110205,Charcot-Marie-Tooth disease dominant intermediate E,"""A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22187985]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:614455', 'ORDO:93114']",['DOID:0050543']
3596,0110206,Charcot-Marie-Tooth disease dominant intermediate F,"""A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23434117]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:615185', 'ORDO:352670']",['DOID:0050543']
3597,0110207,Charcot-Marie-Tooth disease X-linked dominant 6,"""A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23297365]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:300905', 'ORDO:352675']",['DOID:0050542']
3598,0110208,Charcot-Marie-Tooth disease X-linked recessive 2,"""A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1557086]",['DO_rare_slim'],"['ICD10CM:G60.0', 'MESH:C535302', 'OMIM:302801', 'ORDO:101076']",['DOID:0050542']
3599,0110209,Charcot-Marie-Tooth disease X-linked dominant 1,"""A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8266101]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:302800', 'ORDO:101075']",['DOID:0050542']
3600,0110210,Charcot-Marie-Tooth disease X-linked recessive 5,"""A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15955956]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:311070', 'ORDO:99014']",['DOID:0050542']
3601,0110211,Charcot-Marie-Tooth disease X-linked recessive 3,"""A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1557086, url:https\://www.ncbi.nlm.nih.gov/pubmed/1674639]",['DO_rare_slim'],"['ICD10CM:G60.0', 'MESH:C535303', 'OMIM:302802', 'ORDO:101077']",['DOID:0050542']
3602,0110212,Charcot-Marie-Tooth disease X-linked recessive 4,"""A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23217327]",['DO_rare_slim'],"['ICD10CM:G60.0', 'OMIM:310490', 'ORDO:101078']",['DOID:0050542']
3603,0110213,isolated cleft palate,"""A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7143384]",['DO_rare_slim'],"['ICD10CM:Q35.1', 'ICD10CM:Q35.3', 'ICD10CM:Q35.5', 'ICD10CM:Q35.7', 'ICD10CM:Q35.9', 'OMIM:119540', 'ORDO:2014']",['DOID:674']
3604,0110214,cleft soft palate,"""A cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate."" [url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99772]",['DO_rare_slim'],"['ICD10CM:Q35.3', 'MESH:C562950', 'OMIM:119570', 'ORDO:99772']",['DOID:674']
3610,0110220,Brugada syndrome 3,"""A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17224476]",['DO_rare_slim'],"['GARD:10361', 'ICD10CM:I49.8', 'MESH:C567509', 'OMIM:611875']",['DOID:0050451']
3611,0110221,Brugada syndrome 4,"""A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17224476]",['DO_rare_slim'],"['GARD:10362', 'ICD10CM:I49.8', 'MESH:C567508', 'OMIM:611876']",['DOID:0050451']
3622,0110232,cataract 29,"""A cataract that has_material_basis_in variation in the region 2pter-p24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15933805]",['DO_rare_slim'],"['ICD10CM:Q12.0', 'OMIM:115800', 'ORDO:98990']",['DOID:83']
3638,0110248,cataract 30,"""A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19126778]",['DO_rare_slim'],"['ICD10CM:Q12.0', 'OMIM:116300', 'ORDO:98984']",['DOID:83']
3644,0110254,cataract 25,"""A cataract that has_material_basis_in variation in the region 15q21-q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11133359]",['DO_rare_slim'],"['ICD10CM:Q12.0', 'OMIM:605728', 'ORDO:98985']",['DOID:83']
3657,0110267,cataract 44,"""A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26200341]",['DO_rare_slim'],"['ICD10CM:Q12.0', 'OMIM:616509', 'ORDO:98994']",['DOID:83']
3663,0110273,autosomal dominant limb-girdle muscular dystrophy,"""A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/3275904]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:PS603511', 'ORDO:102014']",['DOID:11724']
3664,0110274,autosomal recessive limb-girdle muscular dystrophy,"""A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/13810212]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:PS253600', 'ORDO:102015']",['DOID:11724']
3665,0110275,autosomal recessive limb-girdle muscular dystrophy type 2A,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7720071]",['DO_rare_slim'],"['GARD:3845', 'ICD10CM:G71.0', 'OMIM:253600', 'ORDO:267']",['DOID:0110274']
3666,0110276,autosomal recessive limb-girdle muscular dystrophy type 2B,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9731527]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:253601', 'ORDO:268']",['DOID:0110274']
3667,0110277,autosomal recessive limb-girdle muscular dystrophy type 2C,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7481775]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:253700', 'ORDO:353']",['DOID:0110274']
3668,0110278,autosomal recessive limb-girdle muscular dystrophy type 2D,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q."" [url:https\://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy, url:https\://www.ncbi.nlm.nih.gov/pubmed/30055862, url:https\://www.omim.org/entry/608099]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:608099', 'ORDO:62']",['DOID:0110274']
3669,0110279,autosomal recessive limb-girdle muscular dystrophy type 2E,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7581448]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:604286', 'ORDO:119']",['DOID:0110274']
3670,0110280,autosomal recessive limb-girdle muscular dystrophy type 2F,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8841194]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:601287', 'ORDO:219']",['DOID:0110274']
3671,0110281,autosomal recessive limb-girdle muscular dystrophy type 2G,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10655062]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:601954', 'ORDO:34514']",['DOID:0110274']
3672,0110282,autosomal recessive limb-girdle muscular dystrophy type 2H,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11822024]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:254110', 'ORDO:1878']",['DOID:0110274']
3673,0110283,autosomal recessive limb-girdle muscular dystrophy type 2J,"""An autosomal recessive limb-girdle muscular dystrophy  that has_material_basis_in homozygous mutation in the titin gene (TTN)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12145747]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:608807', 'ORDO:140922']",['DOID:0110274']
3674,0110284,autosomal recessive limb-girdle muscular dystrophy type 2L,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20096397]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:611307', 'ORDO:206549']",['DOID:0110274']
3675,0110285,autosomal recessive limb-girdle muscular dystrophy type 2Q,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21109228]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:613723', 'ORDO:254361']",['DOID:0110274']
3676,0110287,autosomal recessive limb-girdle muscular dystrophy type 2S,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23830518]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:615356', 'ORDO:369840']",['DOID:0110274']
3677,0110288,autosomal recessive limb-girdle muscular dystrophy type 2W,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25589244, url:https\://www.omim.org/entry/616827]",['DO_rare_slim'],"['OMIM:616827', 'ORDO:466801']",['DOID:0110274']
3678,0110289,autosomal recessive limb-girdle muscular dystrophy type 2Y,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24856141]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:617072', 'ORDO:424261']",['DOID:0110274']
3679,0110290,autosomal recessive limb-girdle muscular dystrophy type 2X,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26642364]",['DO_rare_slim'],"['OMIM:616812', 'ORDO:476084']",['DOID:0110274']
3681,0110292,autosomal recessive limb-girdle muscular dystrophy type 2O,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18195152]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:613157', 'ORDO:206564']",['DOID:0110274']
3682,0110293,autosomal recessive limb-girdle muscular dystrophy type 2P,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21388311]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:613818', 'ORDO:280333']",['DOID:0110274']
3683,0110294,autosomal recessive limb-girdle muscular dystrophy type 2T,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23768512]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:615352', 'ORDO:363623']",['DOID:0110274']
3684,0110295,autosomal recessive limb-girdle muscular dystrophy type 2U,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23390185]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:616052', 'ORDO:352479']",['DOID:0110274']
3685,0110296,autosomal recessive limb-girdle muscular dystrophy type 2M,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17044012]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:611588', 'ORDO:206554']",['DOID:0110274']
3686,0110297,autosomal recessive limb-girdle muscular dystrophy type 2K,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15792865]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:609308', 'ORDO:86812']",['DOID:0110274']
3687,0110298,autosomal recessive limb-girdle muscular dystrophy type 2N,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17878207]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:613158', 'ORDO:206559']",['DOID:0110274']
3688,0110299,autosomal recessive limb-girdle muscular dystrophy type 2I,"""An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11592034]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:607155', 'ORDO:34515']",['DOID:0110274']
3689,0110303,autosomal dominant limb-girdle muscular dystrophy type 1H,"""An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in with variation in the region 3p25.1-p23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20068593]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:613530', 'ORDO:238755']",['DOID:0110273']
3690,0110304,autosomal dominant limb-girdle muscular dystrophy type 2,"""An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23543484, url:https\://www.ncbi.nlm.nih.gov/pubmed/23667635]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:608423', 'ORDO:55595']",['DOID:0110273']
3691,0110305,autosomal dominant limb-girdle muscular dystrophy type 1,"""An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22334415]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:603511', 'ORDO:34517']",['DOID:0110273']
3692,0110306,autosomal dominant limb-girdle muscular dystrophy type 3,"""An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24647604]",['DO_rare_slim'],"['ICD10CM:G71.0', 'OMIM:609115', 'ORDO:55596']",['DOID:0110273']
3719,0110334,osteogenesis imperfecta type 1,"""An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2873381]",['DO_rare_slim'],"['GARD:8694', 'MESH:D010013', 'NCI:C99003', 'OMIM:166200', 'ORDO:216796', 'SNOMEDCT_US_2022_09_01:3508009', 'UMLS_CUI:C0023931']",['DOID:12347']
3721,0110336,osteogenesis imperfecta type 8,"""An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17277775]",['DO_rare_slim'],"['GARD:10152', 'ICD10CM:Q78.0', 'OMIM:610915']",['DOID:12347']
3722,0110337,osteogenesis imperfecta type 7,"""An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17055431]",['DO_rare_slim'],"['GARD:8701', 'ICD10CM:Q78.0', 'MESH:C565200', 'OMIM:610682']",['DOID:12347']
3724,0110339,osteogenesis imperfecta type 3,"""An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2794057, url:https\://www.ncbi.nlm.nih.gov/pubmed/9099837]",['DO_rare_slim'],"['GARD:8695', 'ICD10CM:Q78.0', 'OMIM:259420']",['DOID:12347']
3725,0110340,osteogenesis imperfecta type 4,"""An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2745420, url:https\://www.ncbi.nlm.nih.gov/pubmed/2897363]",['DO_rare_slim'],"['GARD:8696', 'ICD10CM:Q78.0', 'OMIM:166220']",['DOID:12347']
3726,0110341,osteogenesis imperfecta type 2,"""An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/3722184, url:https\://www.ncbi.nlm.nih.gov/pubmed/6304100]",['DO_rare_slim'],"['GARD:10142', 'ICD10CM:Q78.0', 'OMIM:166210']",['DOID:12347']
3729,0110344,osteogenesis imperfecta type 5,"""An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22863190]",['DO_rare_slim'],"['GARD:8699', 'ICD10CM:Q78.0', 'OMIM:610967']",['DOID:12347']
3734,0110349,osteogenesis imperfecta type 9,"""An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19781681]",['DO_rare_slim'],"['GARD:10619', 'ICD10CM:Q78.0', 'OMIM:259440']",['DOID:12347']
3735,0110350,osteogenesis imperfecta type 6,"""An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21353196]",['DO_rare_slim'],"['GARD:8700', 'ICD10CM:Q78.0', 'OMIM:613982']",['DOID:12347']
3810,0110425,dilated cardiomyopathy 1A,"""A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10580070]",['DO_rare_slim'],"['OMIM:115200', 'ORDO:300751']",['DOID:12930']
3825,0110440,dilated cardiomyopathy 1J,"""A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15735644]",['DO_rare_slim'],"['OMIM:605362', 'ORDO:217622']",['DOID:12930']
3873,0110489,autosomal recessive nonsyndromic deafness 30,"""An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12032315]",['DO_rare_slim'],"['ICD10CM:H90.3', 'OMIM:607101', 'ORDO:90636']",['DOID:0050565']
3894,0110510,autosomal recessive nonsyndromic deafness 55,"""An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16098016]",['DO_rare_slim'],"['GARD:9919', 'ICD10CM:H90.3', 'OMIM:609952']",['DOID:0050565']
3938,0110554,autosomal dominant nonsyndromic deafness 24,"""An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10739769]",['DO_rare_slim'],"['GARD:9166', 'ICD10CM:H90.3', 'OMIM:606282']",['DOID:0050564']
3963,0110579,autosomal dominant nonsyndromic deafness 53,"""An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15958501]",['DO_rare_slim'],"['GARD:9934', 'ICD10CM:H90.3', 'OMIM:609965']",['DOID:0050564']
4015,0110632,megaconial type congenital muscular dystrophy,"""A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16371353, url:https\://www.ncbi.nlm.nih.gov/pubmed/21665002]",['DO_rare_slim'],"['ICD10CM:G71.2', 'OMIM:602541', 'ORDO:280671']",['DOID:0050557']
4016,0110633,rigid spine muscular dystrophy 1,"""A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11528383, url:https\://www.ncbi.nlm.nih.gov/pubmed/12192640, url:https\://www.ncbi.nlm.nih.gov/pubmed/15122708]",['DO_rare_slim'],"['GARD:4723', 'ICD10CM:G71.2', 'ICD10CM:G71.8', 'MESH:C535683', 'OMIM:602771', 'ORDO:324604', 'ORDO:84132', 'ORDO:97244']",['DOID:0050557']
4017,0110634,congenital muscular dystrophy 1B,"""A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10677302]",['DO_rare_slim'],"['ICD10CM:G71.2', 'OMIM:604801', 'ORDO:98893']",['DOID:0050557']
4018,0110635,muscular dystrophy-dystroglycanopathy type B5,"""A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11592034, url:https\://www.ncbi.nlm.nih.gov/pubmed/14652796]",['DO_rare_slim'],"['ICD10CM:G71.2', 'OMIM:606612', 'ORDO:52428']",['DOID:0112375']
4019,0110636,congenital merosin-deficient muscular dystrophy 1A,"""A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24611677, url:https\://www.ncbi.nlm.nih.gov/pubmed/7550355]","['DO_rare_slim', 'NCIthesaurus']","['MESH:C537384', 'NCI:C118783', 'OMIM:607855', 'ORDO:258', 'SNOMEDCT_US_2022_09_01:787037000', 'UMLS_CUI:C1263858']",['DOID:0050557']
4020,0110637,muscular dystrophy-dystroglycanopathy type B6,"""A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12966029, url:https\://www.ncbi.nlm.nih.gov/pubmed/19067344]",['DO_rare_slim'],"['ICD10CM:G71.2', 'OMIM:608840', 'ORDO:98894']",['DOID:0112375']
4022,0110639,congenital muscular dystrophy due to integrin alpha-7 deficiency,"""A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9590299]",['DO_rare_slim'],"['ICD10CM:G71.2', 'OMIM:613204', 'ORDO:34520']",['DOID:0050557']
4023,0110640,congenital muscular dystrophy due to LMNA mutation,"""A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15148145, url:https\://www.ncbi.nlm.nih.gov/pubmed/18551513]",['DO_rare_slim'],"['ICD10CM:G71.2', 'OMIM:613205', 'ORDO:157973']",['DOID:0050557']
4024,0110644,long QT syndrome 1,"""A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17192539]",['DO_rare_slim'],"['GARD:3284', 'ICD10CM:I45.8', 'OMIM:192500']",['DOID:2843']
4025,0110645,long QT syndrome 2,"""A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7889573]",['DO_rare_slim'],"['GARD:3285', 'ICD10CM:I45.8', 'MESH:C563614', 'OMIM:613688']",['DOID:2843']
4026,0110646,long QT syndrome 3,"""A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8541846]",['DO_rare_slim'],"['GARD:3286', 'ICD10CM:I45.8', 'MESH:C565840', 'OMIM:603830']",['DOID:2843']
4027,0110647,long QT syndrome 5,"""A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10973849]",['DO_rare_slim'],"['GARD:10433', 'ICD10CM:I45.8', 'MESH:C566766', 'OMIM:613695']",['DOID:2843']
4028,0110648,long QT syndrome 6,"""A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10219239]",['DO_rare_slim'],"['GARD:10434', 'ICD10CM:I45.8', 'MESH:C566333', 'OMIM:613693']",['DOID:2843']
4029,0110650,long QT syndrome 9,"""A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17060380]",['DO_rare_slim'],"['GARD:10435', 'ICD10CM:I45.8', 'MESH:C567515', 'OMIM:611818']",['DOID:2843']
4030,0110651,long QT syndrome 10,"""A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17592081]",['DO_rare_slim'],"['GARD:10436', 'ICD10CM:I45.8', 'MESH:C567514', 'OMIM:611819']",['DOID:2843']
4031,0110652,long QT syndrome 11,"""A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18093912]",['DO_rare_slim'],"['GARD:10437', 'ICD10CM:I45.8', 'MESH:C567513', 'OMIM:611820']",['DOID:2843']
4076,0110711,congenital hypotrichosis with juvenile macular dystrophy,"""A hypotrichosis that has_material_basis_in a autosomal recessive mutation of CDH3 on chromosome 16q22.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11544476]",['DO_rare_slim'],"['GARD:3066', 'OMIM:601553']",['DOID:4535']
4085,0110720,neuronal ceroid lipofuscinosis 4,"""A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21820099, url:https\://www.ncbi.nlm.nih.gov/pubmed/22073189]",['DO_rare_slim'],"['ICD10CM:E75.4', 'OMIM:162350', 'ORDO:228343']",['DOID:14503']
4086,0110721,neuronal ceroid lipofuscinosis 1,"""A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7637805]",['DO_rare_slim'],"['GARD:1219', 'ICD10CM:E75.4', 'OMIM:256730', 'ORDO:228329']",['DOID:14503']
4087,0110722,neuronal ceroid lipofuscinosis 7,"""A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17564970]",['DO_rare_slim'],"['GARD:1220', 'ICD10CM:E75.4', 'OMIM:610951', 'ORDO:228366']",['DOID:14503']
4088,0110723,neuronal ceroid lipofuscinosis 8,"""A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15024724, url:https\://www.ncbi.nlm.nih.gov/pubmed/15074367, url:https\://www.ncbi.nlm.nih.gov/pubmed/15965709]",['DO_rare_slim'],"['ICD10CM:E75.4', 'OMIM:600143', 'ORDO:228354']",['DOID:14503']
4089,0110724,neuronal ceroid lipofuscinosis 8 northern epilepsy variant,"""A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8014963, url:https\://www.ncbi.nlm.nih.gov/pubmed/8743986]",['DO_rare_slim'],"['GARD:2163', 'GARD:4010', 'ICD10CM:E75.4', 'OMIM:610003', 'ORDO:1947']",['DOID:14503']
4090,0110725,neuronal ceroid lipofuscinosis 10,"""A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16685649]",['DO_rare_slim'],"['GARD:1218', 'ICD10CM:E75.4', 'OMIM:610127', 'ORDO:228337']",['DOID:14503']
4091,0110726,neuronal ceroid lipofuscinosis 2,"""A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15965709, url:https\://www.ncbi.nlm.nih.gov/pubmed/18684116]",['DO_rare_slim'],"['GARD:3045', 'ICD10CM:E75.4', 'OMIM:204500', 'ORDO:228349']",['DOID:14503']
4092,0110727,neuronal ceroid lipofuscinosis 13,"""A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23297359]",['DO_rare_slim'],"['ICD10CM:E75.4', 'OMIM:615362', 'ORDO:352709']",['DOID:14503']
4093,0110728,neuronal ceroid lipofuscinosis 5,"""A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15965709, url:https\://www.ncbi.nlm.nih.gov/pubmed/9662406]",['DO_rare_slim'],"['GARD:1223', 'ICD10CM:E75.4', 'OMIM:256731', 'ORDO:228360']",['DOID:14503']
4094,0110729,neuronal ceroid lipofuscinosis 6A,"""A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15965709, url:https\://www.ncbi.nlm.nih.gov/pubmed/15996215]",['DO_rare_slim'],"['GARD:1224', 'ICD10CM:E75.4', 'OMIM:601780', 'ORDO:228363']",['DOID:14503']
4095,0110730,neuronal ceroid lipofuscinosis 6B,"""A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15965709, url:https\://www.ncbi.nlm.nih.gov/pubmed/21549341]",['DO_rare_slim'],"['ICD10CM:E75.4', 'OMIM:204300', 'ORDO:228340']",['DOID:14503']
4096,0110731,neuronal ceroid lipofuscinosis 3,"""A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11."" [url:https\://ghr.nlm.nih.gov/condition/cln3-disease, url:https\://www.ncbi.nlm.nih.gov/pubmed/15965709, url:https\://www.ncbi.nlm.nih.gov/pubmed/7553855]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:5897', 'ICD10CM:E75.4', 'OMIM:204200', 'ORDO:228346']",['DOID:14503']
4097,0110732,neuronal ceroid lipofuscinosis 11,"""A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22608501]",['DO_rare_slim'],"['ICD10CM:E75.4', 'OMIM:614706', 'ORDO:314629']",['DOID:14503']
4098,0110733,neuronal ceroid lipofuscinosis 9,"""A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seziures."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15349861]",['DO_rare_slim'],"['GARD:6618', 'ICD10CM:E75.4', 'OMIM:609055', 'ORDO:228357']",['DOID:14503']
4099,0110734,neurodegeneration with brain iron accumulation,"""A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia."" [url:https\://rarediseases.info.nih.gov/diseases/11899/index, url:https\://www.ncbi.nlm.nih.gov/pubmed/18981035, url:https\://www.ninds.nih.gov/Disorders/All-Disorders/Neurodegeneration-Brain-Iron-Accumulation-Information-Page]",['DO_rare_slim'],"['GARD:11899', 'MESH:C538421', 'OMIM:PS234200', 'ORDO:385', 'UMLS_CUI:C2931845']",['DOID:1289']
4100,0110735,neurodegeneration with brain iron accumulation 2a,"""A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life."" [url:https\://omim.org/entry/256600, url:https\://www.ncbi.nlm.nih.gov/pubmed/18443314]",['DO_rare_slim'],"['GARD:2751', 'ICD10CM:G23.0', 'OMIM:256600']",['DOID:0110734']
4102,0110737,neurodegeneration with brain iron accumulation 3,"""A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16116125]",['DO_rare_slim'],"['MESH:C548080', 'OMIM:606159', 'ORDO:157846', 'SNOMEDCT_US_2022_09_01:699299001', 'UMLS_CUI:C1853578']",['DOID:0110734']
4103,0110738,neurodegeneration with brain iron accumulation 4,"""A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23269600]",['DO_rare_slim'],"['ICD10CM:G23.0', 'OMIM:614298', 'ORDO:289560']",['DOID:0110734']
4104,0110739,neurodegeneration with brain iron accumulation 5,"""A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23176820]",['DO_rare_slim'],"['ICD10CM:G23.0', 'OMIM:300894', 'ORDO:329284']",['DOID:0110734']
4105,0110740,neurodegeneration with brain iron accumulation 6,"""A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24360804]",['DO_rare_slim'],"['ICD10CM:G23.0', 'OMIM:615643', 'ORDO:397725']",['DOID:0110734']
4126,0110763,hereditary spastic paraplegia 10,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12355402]",['DO_rare_slim'],"['GARD:9590', 'ICD10CM:G11.4', 'OMIM:604187', 'ORDO:100991']",['DOID:2476']
4127,0110764,hereditary spastic paraplegia 11,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17322883]",['DO_rare_slim'],"['GARD:4919', 'ICD10CM:G11.4', 'OMIM:604360', 'ORDO:2822']",['DOID:2476']
4128,0110765,hereditary spastic paraplegia 12,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22232211]",['DO_rare_slim'],"['GARD:9586', 'ICD10CM:G11.4', 'OMIM:604805', 'ORDO:100993']",['DOID:2476']
4129,0110766,hereditary spastic paraplegia 13,"""A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 on chromosome 2q33."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11898127]",['DO_rare_slim'],"['GARD:9616', 'ICD10CM:G11.4', 'OMIM:605280', 'ORDO:100994']",['DOID:2476']
4130,0110767,hereditary spastic paraplegia 14,"""A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10877981]",['DO_rare_slim'],"['GARD:9589', 'ICD10CM:G11.4', 'OMIM:605229', 'ORDO:100995']",['DOID:2476']
4131,0110768,hereditary spastic paraplegia 15,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18394578]",['DO_rare_slim'],"['GARD:9581', 'ICD10CM:G11.4', 'OMIM:270700', 'ORDO:100996']",['DOID:2476']
4132,0110769,hereditary spastic paraplegia 16,"""A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9254866]",['DO_rare_slim'],"['GARD:9585', 'ICD10CM:G11.4', 'OMIM:300266', 'ORDO:100997']",['DOID:2476']
4133,0110770,hereditary spastic paraplegia 17,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14981520]",['DO_rare_slim'],"['GARD:4219', 'ICD10CM:G11.4', 'OMIM:270685', 'ORDO:100998']",['DOID:2476']
4134,0110771,hereditary spastic paraplegia 18,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21330303]",['DO_rare_slim'],"['GARD:4922', 'ICD10CM:G11.4', 'OMIM:611225', 'ORDO:209951']",['DOID:2476']
4135,0110772,hereditary spastic paraplegia 19,"""A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12112072]",['DO_rare_slim'],"['GARD:9588', 'ICD10CM:G11.4', 'OMIM:607152', 'ORDO:100999']",['DOID:2476']
4136,0110773,hereditary spastic paraplegia 2,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8012387]",['DO_rare_slim'],"['GARD:4923', 'ICD10CM:G11.4', 'OMIM:312920', 'ORDO:99015']",['DOID:2476']
4137,0110774,hereditary spastic paraplegia 23,"""A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14681889]",['DO_rare_slim'],"['GARD:336', 'ICD10CM:G11.4', 'OMIM:270750', 'ORDO:101003']",['DOID:2476']
4138,0110775,hereditary spastic paraplegia 24,"""A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12499481]",['DO_rare_slim'],"['GARD:9296', 'ICD10CM:G11.4', 'OMIM:607584', 'ORDO:101004']",['DOID:2476']
4139,0110776,hereditary spastic paraplegia 25,"""A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12070243]",['DO_rare_slim'],"['GARD:9582', 'ICD10CM:G11.4', 'OMIM:608220', 'ORDO:101005']",['DOID:2476']
4140,0110777,hereditary spastic paraplegia 26,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23746551]",['DO_rare_slim'],"['GARD:9587', 'ICD10CM:G11.4', 'OMIM:609195', 'ORDO:101006']",['DOID:2476']
4141,0110778,hereditary spastic paraplegia 27,"""A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15455396]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:609041', 'ORDO:101007']",['DOID:2476']
4142,0110779,hereditary spastic paraplegia 28,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23176821]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:609340', 'ORDO:101008']",['DOID:2476']
4143,0110780,hereditary spastic paraplegia 29,"""A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16130112]",['DO_rare_slim'],"['GARD:9729', 'ICD10CM:G11.4', 'OMIM:609727', 'ORDO:101009']",['DOID:2476']
4144,0110781,hereditary spastic paraplegia 30,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21487076]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:610357', 'ORDO:101010']",['DOID:2476']
4145,0110782,hereditary spastic paraplegia 31,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16826527]",['DO_rare_slim'],"['GARD:10817', 'ICD10CM:G11.4', 'OMIM:610250', 'ORDO:101011']",['DOID:2476']
4146,0110783,hereditary spastic paraplegia 32,"""A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17515546]",['DO_rare_slim'],"['GARD:12749', 'ICD10CM:G11.4', 'OMIM:611252', 'ORDO:171622']",['DOID:2476']
4148,0110785,hereditary spastic paraplegia 34,"""A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12210342]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:300750', 'ORDO:171607']",['DOID:2476']
4149,0110786,hereditary spastic paraplegia 35,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19068277]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:612319', 'ORDO:171629']",['DOID:2476']
4150,0110787,hereditary spastic paraplegia 36,"""A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19357379]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:613096', 'ORDO:320365']",['DOID:2476']
4151,0110788,hereditary spastic paraplegia 37,"""A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17605047]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:611945', 'ORDO:171612']",['DOID:2476']
4152,0110789,hereditary spastic paraplegia 38,"""A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18401025]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:612335', 'ORDO:171617']",['DOID:2476']
4153,0110790,hereditary spastic paraplegia 39,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18313024]",['DO_rare_slim'],"['GARD:4924', 'ICD10CM:G11.4', 'OMIM:612020', 'ORDO:139480']",['DOID:2476']
4154,0110791,hereditary spastic paraplegia 3A,"""A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11685207]",['DO_rare_slim'],"['GARD:5041', 'ICD10CM:G11.4', 'OMIM:182600', 'ORDO:100984']",['DOID:2476']
4155,0110792,hereditary spastic paraplegia 4,"""A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9302257]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:182601', 'ORDO:100985']",['DOID:2476']
4156,0110793,hereditary spastic paraplegia 41,"""A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18364116]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:613364', 'ORDO:320355']",['DOID:2476']
4157,0110794,hereditary spastic paraplegia 42,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19061983]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:612539', 'ORDO:171863']",['DOID:2476']
4158,0110795,hereditary spastic paraplegia 43,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23857908]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:615043', 'ORDO:320370']",['DOID:2476']
4159,0110796,hereditary spastic paraplegia 44,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19056803]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:613206', 'ORDO:320401']",['DOID:2476']
4160,0110797,hereditary spastic paraplegia 45,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24482476]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:613162', 'ORDO:320396']",['DOID:2476']
4161,0110798,hereditary spastic paraplegia 46,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23332916]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:614409', 'ORDO:320391']",['DOID:2476']
4162,0110799,hereditary spastic paraplegia 47,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21620353, url:https\://www.ncbi.nlm.nih.gov/pubmed/22290197]",['DO_rare_slim'],"['OMIM:614066', 'ORDO:280763']",['DOID:2476']
4163,0110800,hereditary spastic paraplegia 48,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20613862]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:613647', 'ORDO:306511']",['DOID:2476']
4164,0110801,hereditary spastic paraplegia 49,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23176824]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:615031', 'ORDO:320385']",['DOID:2476']
4165,0110802,hereditary spastic paraplegia 50,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK535153/, url:https\://www.ncbi.nlm.nih.gov/pubmed/19559397]",['DO_rare_slim'],"['OMIM:612936', 'ORDO:280763']",['DOID:2476']
4166,0110803,hereditary spastic paraplegia 51,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20972249, url:https\://www.ncbi.nlm.nih.gov/pubmed/21620353]",['DO_rare_slim'],"['GARD:10999', 'OMIM:613744', 'ORDO:280763']",['DOID:2476']
4167,0110804,hereditary spastic paraplegia 52,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21620353]",['DO_rare_slim'],"['OMIM:614067', 'ORDO:280763']",['DOID:2476']
4168,0110805,hereditary spastic paraplegia 53,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22717650]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:614898', 'ORDO:319199']",['DOID:2476']
4169,0110806,hereditary spastic paraplegia 54,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23176823]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:615033', 'ORDO:320380']",['DOID:2476']
4170,0110807,hereditary spastic paraplegia 55,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23188110]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:615035', 'ORDO:320375']",['DOID:2476']
4171,0110808,hereditary spastic paraplegia 56,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23176821]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:615030', 'ORDO:320411']",['DOID:2476']
4172,0110809,hereditary spastic paraplegia 57,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23479643]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:615658', 'ORDO:431329']",['DOID:2476']
4173,0110810,hereditary spastic paraplegia 5A,"""A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18252231]",['DO_rare_slim'],"['GARD:4926', 'ICD10CM:G11.4', 'OMIM:270800', 'ORDO:100986']",['DOID:2476']
4174,0110811,hereditary spastic paraplegia 6,"""A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14508710]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:600363', 'ORDO:100988']",['DOID:2476']
4175,0110812,hereditary spastic paraplegia 61,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24482476]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:615685', 'ORDO:401780']",['DOID:2476']
4176,0110813,hereditary spastic paraplegia 62,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24482476]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:615681', 'ORDO:401785']",['DOID:2476']
4177,0110814,hereditary spastic paraplegia 63,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24482476]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:615686', 'ORDO:401805']",['DOID:2476']
4178,0110815,hereditary spastic paraplegia 64,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24482476]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:615683', 'ORDO:401810']",['DOID:2476']
4179,0110816,hereditary spastic paraplegia 7,"""A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9635427]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:607259', 'ORDO:99013']",['DOID:2476']
4180,0110817,hereditary spastic paraplegia 72,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP2 gene on chromosome 5q31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24388663]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:615625', 'ORDO:401849']",['DOID:2476']
4181,0110818,hereditary spastic paraplegia 73,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25751282]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:616282', 'ORDO:444099']",['DOID:2476']
4182,0110819,hereditary spastic paraplegia 74,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25609768]",['DO_rare_slim'],"['OMIM:616451', 'ORDO:468661']",['DOID:2476']
4183,0110820,hereditary spastic paraplegia 75,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24482476]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:616680', 'ORDO:459056']",['DOID:2476']
4185,0110822,hereditary spastic paraplegia 77,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26553276]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:617046', 'ORDO:466722']",['DOID:2476']
4186,0110823,hereditary spastic paraplegia 8,"""A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17160902]",['DO_rare_slim'],"['GARD:9591', 'ICD10CM:G11.4', 'OMIM:603563', 'ORDO:100989']",['DOID:2476']
4187,0110824,hereditary spastic paraplegia 9A,"""A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26026163]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:601162', 'ORDO:100990', 'ORDO:447753']",['DOID:2476']
4188,0110825,hereditary spastic paraplegia 9B,"""A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26026163]",['DO_rare_slim'],"['ICD10CM:G11.4', 'OMIM:616586', 'ORDO:447760']",['DOID:2476']
4189,0110826,Usher syndrome type 1,"""An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa."" [url:https\://ghr.nlm.nih.gov/condition/usher-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1265/, url:https\://www.ncbi.nlm.nih.gov/pubmed/2909824]",['DO_rare_slim'],"['ICD10CM:H35.5', 'OMIM:276900', 'ORDO:231169']",['DOID:0050439']
4190,0110827,Usher syndrome type 2,"""An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa."" [url:https\://ghr.nlm.nih.gov/condition/usher-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1341/, url:https\://www.ncbi.nlm.nih.gov/pubmed/2909824, url:https\://www.ncbi.nlm.nih.gov/pubmed/9624053]","['DO_rare_slim', 'NCIthesaurus']","['MESH:D052245', 'NCI:C126328', 'ORDO:231178', 'SNOMEDCT_US_2021_09_01:232058008']",['DOID:0050439']
4191,0110828,Usher syndrome type 3,"""An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life."" [url:https\://ghr.nlm.nih.gov/condition/usher-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/2909824, url:https\://www.ncbi.nlm.nih.gov/pubmed/8864816]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5442', 'MESH:D052245', 'NCI:C126329', 'ORDO:231183']",['DOID:0050439']
4192,0110829,retinitis pigmentosa-deafness syndrome,"""An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10090882]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4684', 'MESH:D052245', 'NCI:C126329', 'OMIM:500004', 'ORDO:231183', 'SNOMEDCT_US_2022_09_01:1010610007', 'UMLS_CUI:C1568248']",['DOID:0050439']
4201,0110838,Usher syndrome type 2A,"""An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9624053]",['DO_rare_slim'],"['GARD:5440', 'ICD10CM:H35.5', 'OMIM:276901']",['DOID:0110827']
4210,0110847,xeroderma pigmentosum variant type,"""A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10385124, url:https\://www.ncbi.nlm.nih.gov/pubmed/1054497]",['DO_rare_slim'],"['GARD:5630', 'ICD10CM:Q82.1', 'MESH:C536766', 'OMIM:278750']",['DOID:0050427']
4214,0110851,rhizomelic chondrodysplasia punctata type 1,"""A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15679822]",['DO_rare_slim'],"['GARD:6049', 'ICD10CM:Q77.3', 'OMIM:215100', 'ORDO:309789']",['DOID:2580']
4215,0110852,rhizomelic chondrodysplasia punctata type 2,"""A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1405476]",['DO_rare_slim'],"['ICD10CM:Q77.3', 'MESH:C537607', 'OMIM:222765', 'ORDO:309796']",['DOID:2580']
4216,0110853,rhizomelic chondrodysplasia punctata type 3,"""A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22871920]",['DO_rare_slim'],"['ICD10CM:Q77.3', 'MESH:C537608', 'OMIM:600121', 'ORDO:309803']",['DOID:2580']
4217,0110854,rhizomelic chondrodysplasia punctata type 5,"""A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26220973]",['DO_rare_slim'],"['OMIM:616716', 'ORDO:468717']",['DOID:2580']
4224,0110861,autosomal recessive polycystic kidney disease,"""A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion."" [url:https\://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8378', 'ICD10CM:Q61.1', 'ICD9CM:753.14', 'MESH:D017044', 'NCI:C84579', 'OMIM:263200', 'ORDO:731', 'SNOMEDCT_US_2022_09_01:28770003', 'UMLS_CUI:C0085548']",['DOID:0080322']
4273,0110910,leukocyte adhesion deficiency 1,"""A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/6361068]",['DO_rare_slim'],"['OMIM:116920', 'ORDO:99842']",['DOID:6612']
4274,0110912,leukocyte adhesion deficiency 3,"""A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK539770/, url:https\://www.ncbi.nlm.nih.gov/pubmed/19234463, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99844]",['DO_rare_slim'],"['OMIM:612840', 'ORDO:99844']",['DOID:6612']
4275,0110913,adult hypophosphatasia,"""A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of ALPL on chromosome 1p36.12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1409720]",['DO_rare_slim'],"['OMIM:146300', 'ORDO:247676']",['DOID:14213']
4276,0110914,infantile hypophosphatasia,"""A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1689104]",['DO_rare_slim'],"['OMIM:241500', 'ORDO:247651']",['DOID:14213']
4277,0110915,childhood hypophosphatasia,"""A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of ALPL on chromosome 1p36.12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1409720]",['DO_rare_slim'],"['GARD:8735', 'OMIM:241510', 'ORDO:247667']",['DOID:14213']
4284,0110922,familial hemophagocytic lymphohistiocytosis 2,"""A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of PRF1 on chromosome 10q22.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10583959]",['DO_rare_slim'],"['GARD:9922', 'OMIM:603553']",['DOID:0050120']
4285,0110923,familial hemophagocytic lymphohistiocytosis 3,"""A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of UNC13D on chromosome 17q25.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14622600]",['DO_rare_slim'],"['GARD:9928', 'OMIM:608898']",['DOID:0050120']
4286,0110924,familial hemophagocytic lymphohistiocytosis 4,"""A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of STX11 on chromosome 6q24.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15703195]",['DO_rare_slim'],"['GARD:9929', 'OMIM:603552']",['DOID:0050120']
4299,0110937,autosomal dominant osteopetrosis 1,"""An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12579474, url:https\://www.ncbi.nlm.nih.gov/pubmed/3377922]",['DO_rare_slim'],"['MESH:C536056', 'OMIM:607634', 'ORDO:2783', 'UMLS_CUI:C1843330']",['DOID:13533']
4300,0110938,autosomal dominant osteopetrosis 2,"""An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11741829, url:https\://www.ncbi.nlm.nih.gov/pubmed/3588909]",['DO_rare_slim'],"['GARD:383', 'MESH:D010022', 'OMIM:166600', 'ORDO:53', 'SNOMEDCT_US_2022_09_01:725050005', 'UMLS_CUI:C3179239']",['DOID:13533']
4301,0110939,autosomal recessive osteopetrosis 5,"""An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12627228]",['DO_rare_slim'],"['GARD:4153', 'OMIM:259720']",['DOID:13533']
4303,0110941,autosomal recessive osteopetrosis 3,"""An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1928091]",['DO_rare_slim'],"['GARD:4154', 'OMIM:259730']",['DOID:13533']
4304,0110942,autosomal recessive osteopetrosis 1,"""An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10888887]",['DO_rare_slim'],"['GARD:2579', 'OMIM:259700']",['DOID:13533']
4305,0110943,autosomal recessive osteopetrosis 2,"""An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17632511]",['DO_rare_slim'],"['GARD:4157', 'OMIM:259710']",['DOID:13533']
4306,0110944,autosomal recessive osteopetrosis 4,"""An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11207362]",['DO_rare_slim'],"['GARD:5993', 'OMIM:611490']",['DOID:13533']
4307,0110945,autosomal recessive osteopetrosis 6,"""An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17404618]",['DO_rare_slim'],"['GARD:4156', 'OMIM:611497']",['DOID:13533']
4308,0110946,autosomal recessive osteopetrosis 7,"""An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18606301]",['DO_rare_slim'],"['GARD:10106', 'ICD10CM:Q78.2', 'OMIM:612301', 'ORDO:178389']",['DOID:13533']
4309,0110947,Waardenburg syndrome type 2B,"""A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20127975, url:https\://www.ncbi.nlm.nih.gov/pubmed/7951321]",['DO_rare_slim'],"['GARD:5522', 'MESH:C536465', 'OMIM:600193']",['DOID:9258']
4310,0110948,Waardenburg syndrome type 1,"""A Waardenburg's syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1347148, url:https\://www.ncbi.nlm.nih.gov/pubmed/20127975]","['DO_rare_slim', 'NCIthesaurus']","['MESH:D014849', 'NCI:C75008', 'OMIM:193500', 'ORDO:894', 'SNOMEDCT_US_2022_09_01:1010606009', 'UMLS_CUI:C1847800']",['DOID:9258']
4311,0110949,Waardenburg syndrome type 3,"""A Waardenburg's syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20127975, url:https\://www.ncbi.nlm.nih.gov/pubmed/8447316]",['DO_rare_slim'],"['GARD:5523', 'ICD10CM:E70.3', 'OMIM:148820', 'ORDO:896']",['DOID:9258']
4312,0110950,Waardenburg syndrome type 2A,"""A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20127975, url:https\://www.ncbi.nlm.nih.gov/pubmed/7874167]",['DO_rare_slim'],"['GARD:5521', 'MESH:C536464', 'OMIM:193510']",['DOID:9258']
4319,0110957,Gaucher's disease type I,"""A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_in a mutation of GBA on chromosome 1q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1897529]",['DO_rare_slim'],"['ICD10CM:E75.2', 'OMIM:230800', 'ORDO:77259']",['DOID:1926']
4320,0110958,Gaucher's disease type II,"""A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10649495, url:https\://www.ncbi.nlm.nih.gov/pubmed/2880291]",['DO_rare_slim'],"['ICD10CM:E75.2', 'OMIM:230900', 'ORDO:77260']",['DOID:1926']
4321,0110959,Gaucher's disease type III,"""A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2378352, url:https\://www.ncbi.nlm.nih.gov/pubmed/8413956]",['DO_rare_slim'],"['ICD10CM:E75.2', 'OMIM:231000', 'ORDO:77261']",['DOID:1926']
4322,0110960,Gaucher's disease perinatal lethal,"""A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12838552, url:https\://www.ncbi.nlm.nih.gov/pubmed/1437405]",['DO_rare_slim'],"['ICD10CM:E75.2', 'OMIM:608013', 'ORDO:85212']",['DOID:1926']
4323,0110961,atypical Gaucher's disease due to saposin c deficiency,"""A Gaucher's disease that has_material_basis_in an autosomal recessive mutation of PSAP on chromosome 10q22.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17919309]",['DO_rare_slim'],"['ICD10CM:E75.2', 'OMIM:610539', 'ORDO:309252']",['DOID:1926']
4324,0110962,brachydactyly-preaxial hallux varus syndrome,"""A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/5082920]",['DO_rare_slim'],"['ICD10CM:Q73.8', 'OMIM:112450', 'ORDO:1278']",['DOID:0050581']
4325,0110963,Ballard syndrome,"""A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/4009643]",['DO_rare_slim'],"['ICD10CM:Q73.8', 'OMIM:112440', 'ORDO:93395']",['DOID:0050581']
4326,0110964,brachydactyly type A1,"""A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12525541, url:https\://www.ncbi.nlm.nih.gov/pubmed/14043746]",['DO_rare_slim'],"['GARD:978', 'MESH:C537088', 'OMIM:112500', 'ORDO:93388']",['DOID:0050581']
4327,0110965,brachydactyly type A2,"""A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14523231, url:https\://www.ncbi.nlm.nih.gov/pubmed/16127465, url:https\://www.ncbi.nlm.nih.gov/pubmed/21357617]",['DO_rare_slim'],"['GARD:979', 'MESH:C537089', 'OMIM:112600', 'ORDO:93396', 'SNOMEDCT_US_2022_09_01:720569006', 'UMLS_CUI:C1832702']",['DOID:0050581']
4328,0110966,brachydactyly type A3,"""A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7416253]",['DO_rare_slim'],"['GARD:963', 'MESH:C537090', 'OMIM:112700']",['DOID:0050581']
4329,0110967,brachydactyly type A4,"""A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/4325377, url:https\://www.ncbi.nlm.nih.gov/pubmed/5663738]",['DO_rare_slim'],"['GARD:990', 'ICD10CM:Q73.8', 'OMIM:112800', 'ORDO:93394']",['DOID:0050581']
4330,0110968,brachydactyly type A6,"""A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/4073129]",['DO_rare_slim'],"['GARD:983', 'MESH:C537092', 'OMIM:112910', 'ORDO:93382', 'SNOMEDCT_US_2022_09_01:715722003', 'UMLS_CUI:C1862130']",['DOID:0050581']
4332,0110970,brachydactyly type C,"""A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9288091]",['DO_rare_slim'],"['GARD:986', 'MESH:C537093', 'OMIM:113100', 'ORDO:93384', 'SNOMEDCT_US_2022_09_01:389169005', 'UMLS_CUI:C1300268', 'UMLS_CUI:C1862103']",['DOID:0050581']
4335,0110973,Mononen-Karnes-Senac syndrome,"""A brachydactyly characterized by short, abducted thumbs and great toes."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1632443]",['DO_rare_slim'],"['MESH:C535914', 'OMIM:301940', 'ORDO:2565', 'SNOMEDCT_US_2022_09_01:733095006', 'UMLS_CUI:C2931060']",['DOID:0050581']
4337,0110975,brachydactyly type B2,"""A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17668388]",['DO_rare_slim'],"['ICD10CM:Q73.8', 'OMIM:611377', 'ORDO:140908']",['DOID:0050581']
4341,0110979,Sugarman brachydactyly,"""A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7083610]",['DO_rare_slim'],"['GARD:5058', 'OMIM:272150', 'ORDO:498602']",['DOID:0050581']
4350,0110988,Joubert syndrome 2,"""A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20036350, url:https\://www.ncbi.nlm.nih.gov/pubmed/9373798]",['DO_rare_slim'],"['GARD:10167', 'MESH:C536294', 'OMIM:608091']",['DOID:0050777']
4361,0110999,Joubert syndrome 4,"""A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15138899]",['DO_rare_slim'],"['GARD:10169', 'MESH:C536296', 'OMIM:609583']",['DOID:0050777']
4367,0111005,cone-rod dystrophy 2,"""A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9390563]",['DO_rare_slim'],"['GARD:6145', 'OMIM:120970']",['DOID:0050572']
4371,0111009,cone-rod dystrophy 1,"""A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1867279]",['DO_rare_slim'],"['GARD:10651', 'MESH:C563469', 'OMIM:600624']",['DOID:0050572']
4373,0111011,cone-rod dystrophy 6,"""A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9618177]",['DO_rare_slim'],"['GARD:10656', 'OMIM:601777']",['DOID:0050572']
4375,0111013,cone-rod dystrophy 3,"""A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 on chromosome 1p22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9466990]",['DO_rare_slim'],"['GARD:10653', 'MESH:C565827', 'OMIM:604116']",['DOID:0050572']
4390,0111028,hemochromatosis type 4,"""A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11431687]",['DO_rare_slim'],"['GARD:10094', 'MESH:C537249', 'OMIM:606069', 'ORDO:139491', 'SNOMEDCT_US_2022_09_01:719975002', 'UMLS_CUI:C1853733']",['DOID:2352']
4391,0111029,hemochromatosis type 1,"""A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8696333]",['DO_rare_slim'],"['GARD:10417', 'ICD10CM:E83.1', 'OMIM:235200', 'ORDO:465508']",['DOID:2352']
4392,0111030,hemochromatosis type 3,"""A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10802645]",['DO_rare_slim'],"['GARD:10093', 'MESH:C537248', 'OMIM:604250', 'ORDO:225123', 'SNOMEDCT_US_2022_09_01:719974003', 'UMLS_CUI:C1858664']",['DOID:2352']
4393,0111031,hemochromatosis type 5,"""A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11389486]",['DO_rare_slim'],"['ICD10CM:E83.1', 'OMIM:615517', 'ORDO:247790']",['DOID:2352']
4395,0111033,African iron overload,"""A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10607817]",['DO_rare_slim'],"['ICD10CM:E83.1', 'OMIM:601195', 'ORDO:139507']",['DOID:2352']
4396,0111034,hemochromatosis type 2,"""A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK1170/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10205270]",['DO_rare_slim'],"['GARD:10092', 'ICD10CM:E83.1', 'MESH:C537247', 'ORDO:79230']",['DOID:2352']
4399,0111037,glycine N-methyltransferase deficiency,"""A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1159664, url:https\://www.ncbi.nlm.nih.gov/pubmed/11810299]",['DO_rare_slim'],"['GARD:10764', 'ICD10CM:E72.1', 'OMIM:606664', 'ORDO:289891']",['DOID:0050544']
4400,0111038,hypermethioninemia due to adenosine kinase deficiency,"""A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17120046, url:https\://www.ncbi.nlm.nih.gov/pubmed/21963049]",['DO_rare_slim'],"['ICD10CM:E72.1', 'OMIM:614300', 'ORDO:289290']",['DOID:0050544']
4401,0111039,hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase,"""A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15024124, url:https\://www.ncbi.nlm.nih.gov/pubmed/2380820]",['DO_rare_slim'],"['GARD:13177', 'ICD10CM:E72.1', 'OMIM:613752', 'ORDO:88618']",['DOID:0050544']
4402,0111040,glycogen storage disease IXd,"""A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22238410, url:https\://www.ncbi.nlm.nih.gov/pubmed/7874115]",['DO_rare_slim'],"['ICD10CM:E74.0', 'OMIM:300559', 'ORDO:715']",['DOID:0050594']
4403,0111041,glycogen storage disease IXb,"""A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25266922, url:https\://www.ncbi.nlm.nih.gov/pubmed/9215682]",['DO_rare_slim'],"['ICD10CM:E74.0', 'MESH:C563008', 'OMIM:261750', 'ORDO:79240']",['DOID:0050594']
4406,0111044,gray platelet syndrome,"""A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17768118, url:https\://www.ncbi.nlm.nih.gov/pubmed/21765411, url:https\://www.ncbi.nlm.nih.gov/pubmed/21765412, url:https\://www.ncbi.nlm.nih.gov/pubmed/21765413]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2562', 'ICD10CM:D69.1', 'MESH:D055652', 'NCI:C84741', 'OMIM:139090', 'ORDO:721', 'SNOMEDCT_US_2022_09_01:51720005', 'UMLS_CUI:C0272302']",['DOID:2218']
4407,0111045,platelet-type bleeding disorder 9,"""A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2933589, url:https\://www.ncbi.nlm.nih.gov/pubmed/2943331]",['DO_rare_slim'],"['ICD10CM:D69.8', 'OMIM:614200', 'ORDO:98886']",['DOID:2218']
4410,0111048,platelet-type bleeding disorder 19,"""A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25061177]",['DO_rare_slim'],"['ICD10CM:D69.4', 'OMIM:616176', 'ORDO:438207']",['DOID:2218']
4411,0111049,platelet-type bleeding disorder 17,"""A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24325358, url:https\://www.ncbi.nlm.nih.gov/pubmed/5681484]",['NCIthesaurus'],"['ICD10CM:D69.1', 'MESH:D055652', 'NCI:C84741', 'OMIM:187900', 'SNOMEDCT_US_2022_09_01:51720005', 'UMLS_CUI:C0272302']",['DOID:2218']
4412,0111050,Quebec platelet disorder,"""A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18988861, url:https\://www.ncbi.nlm.nih.gov/pubmed/20007542]",['DO_rare_slim'],"['GARD:8345', 'MESH:C536260', 'OMIM:601709', 'ORDO:220436', 'UMLS_CUI:C1866423']",['DOID:2218']
4413,0111051,platelet-type bleeding disorder 18,"""A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24958846]",['DO_rare_slim'],"['ICD10CM:D69.1', 'OMIM:615888', 'ORDO:420566']",['DOID:2218']
4414,0111052,Scott syndrome,"""A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12669124, url:https\://www.ncbi.nlm.nih.gov/pubmed/21107324]",['DO_rare_slim'],"['GARD:4777', 'MESH:C563120', 'OMIM:262890', 'ORDO:806', 'SNOMEDCT_US_2022_09_01:128098009', 'UMLS_CUI:C0796149']",['DOID:1247']
4416,0111054,von Willebrand's disease 3,"""A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19630771, url:https\://www.ncbi.nlm.nih.gov/pubmed/3258663]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:D68.03', 'MESH:D056729', 'NCI:C85213', 'OMIM:277480', 'ORDO:166096', 'SNOMEDCT_US_2022_09_01:128108002', 'UMLS_CUI:C1264041']",['DOID:12531']
4417,0111055,platelet-type bleeding disorder 20,"""A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26280575, url:https\://www.ncbi.nlm.nih.gov/pubmed/26769223]",['DO_rare_slim'],"['OMIM:616913', 'ORDO:466806']",['DOID:2218']
4418,0111056,platelet-type bleeding disorder 3,"""A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2052556, url:https\://www.ncbi.nlm.nih.gov/pubmed/8486780]",['DO_rare_slim'],"['ICD10CM:D69.8', 'OMIM:177820', 'ORDO:52530']",['DOID:2218']
4419,0111057,platelet-type bleeding disorder 11,"""A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19549989, url:https\://www.ncbi.nlm.nih.gov/pubmed/19552682]",['DO_rare_slim'],"['ICD10CM:D69.8', 'OMIM:614201', 'ORDO:98885']",['DOID:2218']
4422,0111060,Ambras type hypertrichosis universalis congenita,"""A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18328202, url:https\://www.ncbi.nlm.nih.gov/pubmed/8275569, url:https\://www.ncbi.nlm.nih.gov/pubmed/9712536]",['DO_rare_slim'],"['GARD:8206', 'ICD10CM:Q84.2', 'MESH:C536605', 'OMIM:145701', 'ORDO:1023']",['DOID:420']
4425,0111063,hyperphosphatemic familial tumoral calcinosis,"""A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene."" [url:https\://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/15133511, url:https\://www.ncbi.nlm.nih.gov/pubmed/15590700, url:https\://www.ncbi.nlm.nih.gov/pubmed/16151858, url:https\://www.ncbi.nlm.nih.gov/pubmed/17710231]",['DO_rare_slim'],"['GARD:10879', 'ICD10CM:M11.2', 'OMIM:211900', 'ORDO:306661']",['DOID:182']
4426,0111064,distal spinal muscular atrophy 1,"""A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11528396, url:https\://www.ncbi.nlm.nih.gov/pubmed/2801766]",['DO_rare_slim'],"['ICD10CM:G12.2', 'OMIM:604320', 'ORDO:98920']",['DOID:0111197']
4427,0111065,distal spinal muscular atrophy 2,"""A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26078401]",['DO_rare_slim'],"['GARD:10133', 'MESH:C535715', 'OMIM:605726', 'ORDO:139552', 'SNOMEDCT_US_2022_09_01:763533003', 'UMLS_CUI:C1854023']",['DOID:0111197']
4428,0111066,congenital bile acid synthesis defect 5,"""A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25168382]",['DO_rare_slim'],['OMIM:616278'],['DOID:0050674']
4429,0111067,congenital bile acid synthesis defect 6,"""A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27647924, url:https\://www.ncbi.nlm.nih.gov/pubmed/27884763]",['DO_rare_slim'],['OMIM:617308'],['DOID:0050674']
4430,0111068,congenital bile acid synthesis defect 4,"""A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12512044, url:https\://www.ncbi.nlm.nih.gov/pubmed/5064535]",['DO_rare_slim'],"['GARD:10046', 'MESH:C535444', 'OMIM:214950', 'ORDO:79095', 'UMLS_CUI:C1858328']",['DOID:0050674']
4431,0111069,congenital bile acid synthesis defect 2,"""A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12970144, url:https\://www.ncbi.nlm.nih.gov/pubmed/3198770, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303]",['DO_rare_slim'],"['GARD:10045', 'MESH:C535443', 'OMIM:235555', 'ORDO:79303', 'SNOMEDCT_US_2022_09_01:238035000', 'UMLS_CUI:C1856127']",['DOID:0050674']
4432,0111070,congenital bile acid synthesis defect 3,"""A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9802883]",['DO_rare_slim'],"['MESH:C566340', 'OMIM:613812', 'ORDO:79302', 'UMLS_CUI:C3151147']",['DOID:0050674']
4433,0111071,congenital bile acid synthesis defect 1,"""A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11067870, url:https\://www.ncbi.nlm.nih.gov/pubmed/3470305]",['DO_rare_slim'],"['GARD:9813', 'MESH:C535442', 'OMIM:607765', 'ORDO:79301', 'SNOMEDCT_US_2022_09_01:238033007', 'UMLS_CUI:C1843116']",['DOID:0050674']
4434,0111072,myostatin-related muscle hypertrophy,"""A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15215484]",['DO_rare_slim'],"['GARD:10238', 'MESH:C536106', 'OMIM:614160', 'ORDO:275534', 'SNOMEDCT_US_2022_09_01:699185005', 'UMLS_CUI:C2931112']",['DOID:66']
4435,0111073,progressive familial heart block,"""A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/897853]",['DO_rare_slim'],"['OMIM:PS113900', 'ORDO:871']",['DOID:10273']
4439,0111077,pyruvate kinase deficiency of red cells,"""A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1896471, url:https\://www.ncbi.nlm.nih.gov/pubmed/728372, url:https\://www.ncbi.nlm.nih.gov/pubmed/7706479]",['DO_rare_slim'],"['GARD:7514', 'MESH:C564858', 'OMIM:266200', 'ORDO:766']",['DOID:2861']
4440,0111078,tibial muscular dystrophy,"""A distal muscular dystrophy characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12145747, url:https\://www.ncbi.nlm.nih.gov/pubmed/196233, url:https\://www.ncbi.nlm.nih.gov/pubmed/8503797]",['DO_rare_slim'],"['MESH:D049310', 'OMIM:600334', 'ORDO:609', 'SNOMEDCT_US_2022_09_01:698846009', 'UMLS_CUI:C1838244']",['DOID:11720']
4441,0111079,birdshot chorioretinopathy,"""A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11226280, url:https\://www.ncbi.nlm.nih.gov/pubmed/16263368, url:https\://www.ncbi.nlm.nih.gov/pubmed/18214792]",['DO_rare_slim'],"['GARD:5926', 'MESH:D000080365', 'OMIM:605808', 'ORDO:179', 'SNOMEDCT_US_2022_09_01:231981005', 'UMLS_CUI:C1853959']",['DOID:12574']
4497,0111135,congenital generalized lipodystrophy type 1,"""A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11967537]",['DO_rare_slim'],"['GARD:84', 'ICD10CM:E88.1', 'OMIM:608594']",['DOID:0050585']
4498,0111136,congenital generalized lipodystrophy type 2,"""A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11479539]",['DO_rare_slim'],"['GARD:10212', 'ICD10CM:E88.1', 'OMIM:269700']",['DOID:0050585']
4500,0111138,congenital generalized lipodystrophy type 4,"""A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19726876]",['DO_rare_slim'],"['GARD:10937', 'ICD10CM:E88.1', 'OMIM:613327', 'ORDO:228429']",['DOID:0050585']
4501,0111139,mitochondrial complex III deficiency,"""A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25914718]",['DO_rare_slim'],"['GARD:8295', 'MESH:C565128']",['DOID:700']
4502,0111140,IGSF1 deficiency syndrome,"""A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3915563/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23143598]",['DO_rare_slim'],"['ICD10CM:E03.1', 'OMIM:300888', 'ORDO:329235']",['DOID:225']
4504,0111142,oligomeganephronia,"""A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9794553]",['DO_rare_slim'],"['GARD:4066', 'ICD10CM:Q60.4', 'ORDO:2260']",['DOID:0080204']
4505,0111143,mitochondrial complex V (ATP synthase) deficiency,"""A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21874297]",['DO_rare_slim'],['ORDO:254913'],['DOID:700']
4508,0111146,acquired von Willebrand syndrome,"""A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28028990]",['DO_rare_slim'],"['GARD:5573', 'ICD10CM:D68.04', 'MEDDRA:10069495', 'ORDO:99147', 'SNOMEDCT_US_2022_09_01:234451005', 'UMLS_CUI:C0272362']",['DOID:1247']
4509,0111147,angioimmunoblastic T-cell lymphoma,"""A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis."" [url:https\://rarediseases.org/rare-diseases/angioimmunoblastic-t-cell-lymphoma/, url:https\://www.lymphoma.org/aboutlymphoma/nhl/aitl/, url:https\://www.ncbi.nlm.nih.gov/pubmed/22700722]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:11973', 'ICD10CM:C86.5', 'ICDO:9705/3', 'MEDDRA:10002449', 'MESH:D007119', 'NCI:C7528', 'ORDO:86886', 'SNOMEDCT_US_2022_09_01:52097008', 'UMLS_CUI:C0020981']",['DOID:0050749']
4510,0111148,isolated ectopia lentis,"""A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20141359]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:Q12.1', 'ICD9CM:743.37', 'MESH:C536184', 'MESH:D004479', 'NCI:C125484', 'ORDO:1885', 'SNOMEDCT_US_2022_09_01:231976001', 'UMLS_CUI:C0013581', 'UMLS_CUI:C2746069']",['DOID:110']
4514,0111152,multicentric Castleman disease,"""A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6."" [url:http\://www.bloodjournal.org/content/129/12/1646, url:https\://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9644', 'MESH:C537372', 'NCI:C27855', 'ORDO:93686', 'SNOMEDCT_US_2022_09_01:1156805003', 'UMLS_CUI:C1334815']",['DOID:0111157']
4515,0111153,congenital mirror movement disorder,"""A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs."" [url:https\://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder#sourcesforpage, url:https\://www.ncbi.nlm.nih.gov/pubmed/25763452]",['DO_rare_slim'],['ORDO:238722'],['DOID:480']
4516,0111154,postural orthostatic tachycardia syndrome,"""A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2."" [url:https\://rarediseases.info.nih.gov/diseases/9597/postural-orthostatic-tachycardia-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/23580201]",['DO_rare_slim'],"['GARD:9597', 'ICD10CM:I95.1', 'MESH:D054972', 'OMIM:604715', 'ORDO:443236']",['DOID:10273']
4517,0111155,autosomal recessive spinocerebellar ataxia 21,"""An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26581903]",['DO_rare_slim'],"['OMIM:616719', 'ORDO:466794']",['DOID:0050950']
4518,0111156,spermatogenic failure 9,"""A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14."" [url:https\://ghr.nlm.nih.gov/condition/globozoospermia, url:https\://www.ncbi.nlm.nih.gov/pubmed/10471512, url:https\://www.ncbi.nlm.nih.gov/pubmed/21397064]",['DO_rare_slim'],"['GARD:12502', 'OMIM:613958', 'ORDO:171709']",['DOID:0112312']
4519,0111157,Castleman disease,"""A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically."" [url:https\://rarediseases.org/rare-diseases/castlemans-disease/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:12656', 'ICD10CM:D47.Z2', 'MESH:C536362', 'MESH:D005871', 'NCI:C3056', 'ORDO:160', 'SNOMEDCT_US_2022_09_01:207036003', 'UMLS_CUI:C0017531', 'UMLS_CUI:C2931179']",['DOID:0060704']
4520,0111158,SADDAN,"""A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16."" [url:https\://ghr.nlm.nih.gov/condition/saddan, url:https\://www.ncbi.nlm.nih.gov/pubmed/10053006]",['DO_rare_slim'],"['GARD:9443', 'MESH:D000130', 'OMIM:616482', 'ORDO:85165', 'SNOMEDCT_US_2022_09_01:699870002', 'UMLS_CUI:C2674173']",['DOID:225']
4522,0111160,camptodactyly-tall stature-scoliosis-hearing loss syndrome,"""A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16."" [url:https\://rarediseases.info.nih.gov/diseases/10012/camptodactyly-tall-stature-and-hearing-loss-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/17033969]",['DO_rare_slim'],"['MESH:C537975', 'OMIM:610474', 'ORDO:85164', 'SNOMEDCT_US_2022_09_01:720601000', 'UMLS_CUI:C1864852']",['DOID:225']
4523,0111161,Crouzon syndrome-acanthosis nigricans syndrome,"""A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16."" [url:https\://ghr.nlm.nih.gov/condition/crouzon-syndrome-with-acanthosis-nigricans, url:https\://www.ncbi.nlm.nih.gov/pubmed/2650599, url:https\://www.ncbi.nlm.nih.gov/pubmed/7493034]",['DO_rare_slim'],"['OMIM:612247', 'ORDO:93262']",['DOID:225']
4525,0111163,molybdenum cofactor deficiency type B,"""A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10053004]",['DO_rare_slim'],"['MESH:C565373', 'OMIM:252160', 'ORDO:308393', 'SNOMEDCT_US_2022_09_01:1003368009', 'UMLS_CUI:C1854989']",['DOID:0111165']
4526,0111164,molybdenum cofactor deficiency type A,"""A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9731530]",['DO_rare_slim'],"['MESH:C565372', 'OMIM:252150', 'ORDO:308386', 'SNOMEDCT_US_2022_09_01:1003367004', 'UMLS_CUI:C1854988']",['DOID:0111165']
4527,0111165,molybdenum cofactor deficiency,"""A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage."" [url:https\://en.wikipedia.org/wiki/Molybdenum_cofactor_deficiency, url:https\://ghr.nlm.nih.gov/condition/molybdenum-cofactor-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/10746556]",['DO_rare_slim'],"['GARD:3705', 'ICD10CM:E72.1', 'MESH:C535811', 'OMIM:PS252150', 'ORDO:99732']",['DOID:896']
4528,0111166,molybdenum cofactor deficiency type C,"""A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11095995]",['DO_rare_slim'],"['MESH:C565374', 'OMIM:615501', 'ORDO:308400', 'SNOMEDCT_US_2022_09_01:1003387003', 'UMLS_CUI:C1854990']",['DOID:0111165']
4529,0111167,Dyggve-Melchior-Clausen disease,"""A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12491225, url:https\://www.ncbi.nlm.nih.gov/pubmed/21032395]",['DO_rare_slim'],"['GARD:6295', 'OMIM:223800']",['DOID:0080027']
4530,0111168,sepiapterin reductase deficiency,"""A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency."" [url:https\://ghr.nlm.nih.gov/condition/sepiapterin-reductase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/11443547, url:https\://www.ncbi.nlm.nih.gov/pubmed/15241655, url:https\://www.ncbi.nlm.nih.gov/pubmed/22522443]",['DO_rare_slim'],"['GARD:10365', 'MESH:C562657', 'OMIM:612716', 'ORDO:70594', 'SNOMEDCT_US_2022_09_01:1187545003', 'UMLS_CUI:C0268468']",['DOID:543']
4531,0111169,subcortical band heterotopia,"""A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex."" [url:https\://rarediseases.info.nih.gov/diseases/1904/subcortical-band-heterotopia, url:https\://www.ncbi.nlm.nih.gov/pubmed/24859200]","['DO_rare_slim', 'NCIthesaurus']","['MESH:D054221', 'NCI:C116933', 'OMIM:600348', 'ORDO:99796', 'UMLS_CUI:C1848201']",['DOID:2490']
4533,0111180,French Canadian Leigh disease,"""A Leigh disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of leasions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12529507, url:https\://www.ncbi.nlm.nih.gov/pubmed/21266382]",['DO_rare_slim'],"['GARD:8370', 'MESH:C537004', 'OMIM:220111', 'ORDO:70472', 'SNOMEDCT_US_2022_09_01:718219002', 'UMLS_CUI:C1857355']",['DOID:3652']
4534,0111181,familial hemiplegic migraine 1,"""A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK1388/, url:https\://www.ncbi.nlm.nih.gov/pubmed/8898206]",['DO_rare_slim'],"['GARD:2638', 'OMIM:141500']",['DOID:0060178']
4535,0111182,familial hemiplegic migraine 2,"""A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12539047]",['DO_rare_slim'],"['GARD:10095', 'OMIM:602481']",['DOID:0060178']
4536,0111183,familial hemiplegic migraine 3,"""A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16054936]",['DO_rare_slim'],"['GARD:10974', 'OMIM:609634']",['DOID:0060178']
4540,0111187,distal muscular dystrophy with anterior tibial onset,"""A distal muscular dystrophy characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous or compound heterozygous mutation in DYSF on 2p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11198284, url:https\://www.ncbi.nlm.nih.gov/pubmed/9731526]",['DO_rare_slim'],"['OMIM:606768', 'ORDO:178400']",['DOID:11720']
4541,0111188,myofibrillar myopathy 9,"""A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15802564, url:https\://www.ncbi.nlm.nih.gov/pubmed/23486992]",['DO_rare_slim'],"['GARD:12591', 'OMIM:603689', 'ORDO:178464']",['DOID:0080307']
4542,0111189,distal muscular dystrophy 3,"""A distal muscular dystrophy that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12847162, url:https\://www.ncbi.nlm.nih.gov/pubmed/15036327]",['DO_rare_slim'],"['OMIM:610099', 'ORDO:399086']",['DOID:11720']
4543,0111190,distal muscular dystrophy 4,"""A distal muscular dystrophy that has_material_basis_in heterozygous mutation in FLNC on 7q32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21620354]",['DO_rare_slim'],"['OMIM:614065', 'ORDO:63273']",['DOID:11720']
4544,0111191,distal muscular dystrophy Tateyama type,"""A distal muscular dystrophy that has_material_basis_in heterozygous mutation in CAV3 on 3p25."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11805270]",['DO_rare_slim'],"['OMIM:614321', 'ORDO:488650']",['DOID:11720']
4547,0111194,autosomal dominant adult-onset proximal spinal muscular atrophy,"""A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15372378, url:https\://www.ncbi.nlm.nih.gov/pubmed/7258225]",['DO_rare_slim'],"['OMIM:182980', 'ORDO:209335']",['DOID:12377']
4549,0111196,X-linked distal spinal muscular atrophy 3,"""A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14985388, url:https\://www.ncbi.nlm.nih.gov/pubmed/20170900]",['DO_rare_slim'],"['MESH:C564506', 'OMIM:300489', 'ORDO:139557', 'SNOMEDCT_US_2022_09_01:766764008', 'UMLS_CUI:C1845359']",['DOID:12377']
4550,0111197,autosomal recessive distal hereditary motor neuronopathy,"""A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15358725]",['DO_rare_slim'],['ORDO:140468'],['DOID:12377']
4551,0111198,autosomal dominant distal hereditary motor neuronopathy,"""A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15358725]",['DO_rare_slim'],['ORDO:140465'],['DOID:12377']
4552,0111199,distal hereditary motor neuronopathy type 7,"""An autosomal dominant distal hereditary motor neuronopathy characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7420092]",['DO_rare_slim'],['ORDO:139589'],['DOID:0111198']
4553,0111200,distal hereditary motor neuronopathy type 1,"""An autosomal dominant distal hereditary motor neuronopathy characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment that has_material_basis_in heterozygous mutation in locus in the 7q34-q36 chromosome region."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17354000, url:https\://www.ncbi.nlm.nih.gov/pubmed/7365507]",['DO_rare_slim'],"['MESH:C566675', 'NCI:C132826', 'OMIM:182960', 'ORDO:139518', 'SNOMEDCT_US_2022_09_01:770630005', 'UMLS_CUI:C1866784']",['DOID:0111198']
4556,0111203,distal hereditary motor neuronopathy type 5,"""An autosomal dominant distal hereditary motor neuronopathy characterized by muscle weakness and wasting, predominantly confined to the hands, and often exclusively involve thenar and/or interosseus dorsalis I eminences."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22703882]",['DO_rare_slim'],['ORDO:139536'],['DOID:0111198']
4559,0111206,distal hereditary motor neuronopathy type 2,"""An autosomal dominant distal hereditary motor neuronopathy characterized by adult onset of slowly progressive distal atrophy and weakness."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1517763]",['DO_rare_slim'],"['MESH:C580044', 'ORDO:139525', 'UMLS_CUI:C3711384']",['DOID:0111198']
4564,0111211,distal spinal muscular atrophy type 3,"""An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15054395]",['DO_rare_slim'],"['MESH:C564626', 'OMIM:607088', 'ORDO:139547', 'SNOMEDCT_US_2022_09_01:770430000', 'UMLS_CUI:C1846823']",['DOID:0111197']
4566,0111213,distal spinal muscular atrophy type 4,"""An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16728649, url:https\://www.ncbi.nlm.nih.gov/pubmed/17564964]",['DO_rare_slim'],"['MESH:C567023', 'OMIM:611067', 'ORDO:206580', 'SNOMEDCT_US_2022_09_01:771302009', 'UMLS_CUI:C1970211']",['DOID:0111197']
4567,0111214,distal spinal muscular atrophy type 5,"""A autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22522442, url:https\://www.ncbi.nlm.nih.gov/pubmed/25274842]",['DO_rare_slim'],"['OMIM:614881', 'ORDO:314485']",['DOID:0111197']
4569,0111216,autosomal recessive centronuclear myopathy,"""A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30103348]",['DO_rare_slim'],"['GARD:12718', 'ORDO:169186']",['DOID:14717']
4570,0111217,autosomal dominant centronuclear myopathy,"""A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30103348]",['DO_rare_slim'],"['GARD:12719', 'ICD10CM:G71.228', 'MESH:D020914', 'ORDO:169189', 'SNOMEDCT_US_2022_09_01:716696006', 'UMLS_CUI:C1834558']",['DOID:14717']
4578,0111225,centronuclear myopathy X-linked,"""A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8640223]",['DO_rare_slim'],"['GARD:11925', 'ICD10CM:G71.220', 'MESH:D020914', 'NCI:C118781', 'OMIM:310400', 'ORDO:596', 'SNOMEDCT_US_2022_09_01:46804001', 'UMLS_CUI:C0410203']",['DOID:14717']
4581,0111228,Sveinsson chorioretinal atrophy,"""An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15016762, url:https\://www.ncbi.nlm.nih.gov/pubmed/419979]",['DO_rare_slim'],"['MESH:C566236', 'OMIM:108985', 'ORDO:86813', 'SNOMEDCT_US_2022_09_01:724384008', 'UMLS_CUI:C1862382']",['DOID:5614']
4582,0111229,congenital muscular dystrophy-dystroglycanopathy type A,"""A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23453667]",['DO_rare_slim'],"['OMIM:PS236670', 'ORDO:352687']",['DOID:0112374']
4596,0111243,acromicric dysplasia,"""An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21683322, url:https\://www.ncbi.nlm.nih.gov/pubmed/3728563]",['DO_rare_slim'],"['GARD:7', 'MESH:C535662', 'OMIM:102370', 'ORDO:969', 'SNOMEDCT_US_2022_09_01:254090007', 'UMLS_CUI:C0265287']",['DOID:2256']
4597,0111244,palmoplantar keratoderma and congenital alopecia 1,"""An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20635335, url:https\://www.ncbi.nlm.nih.gov/pubmed/25168385]",['DO_rare_slim'],"['GARD:604', 'MESH:C537050', 'OMIM:104100', 'ORDO:1010', 'UMLS_CUI:C1863093']",['DOID:2121']
4598,0111245,palmoplantar keratoderma and congenital alopecia 2,"""An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20635335]",['DO_rare_slim'],"['MESH:C535336', 'OMIM:212360', 'ORDO:1366', 'UMLS_CUI:C1859316']",['DOID:2121']
4599,0111246,amyotrophic lateral sclerosis-parkinsonism/dementia complex 1,"""A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16051700, url:https\://www.ncbi.nlm.nih.gov/pubmed/5770171]",['DO_rare_slim'],"['GARD:9239', 'MESH:D000690', 'OMIM:105500', 'ORDO:90020', 'SNOMEDCT_US_2022_09_01:62239001', 'UMLS_CUI:C0543859']",['DOID:1289']
4600,0111247,hypertension and brachydactyly syndrome,"""A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25961942, url:https\://www.ncbi.nlm.nih.gov/pubmed/4774535]",['DO_rare_slim'],"['GARD:967', 'MESH:C537095', 'OMIM:112410', 'ORDO:1276', 'SNOMEDCT_US_2022_09_01:720568003', 'UMLS_CUI:C1862170']",['DOID:225']
4601,0111248,cerebrocostomandibular syndrome,"""A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19008299, url:https\://www.ncbi.nlm.nih.gov/pubmed/25047197]",['DO_rare_slim'],"['GARD:6026', 'MESH:C562538', 'OMIM:117650', 'ORDO:1393', 'SNOMEDCT_US_2022_09_01:51780007', 'UMLS_CUI:C0265342']",['DOID:225']
4602,0111249,uveal coloboma-cleft lip and palate-intellectual disability,"""A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24462371]",['DO_rare_slim'],"['GARD:1440', 'MESH:C535971', 'OMIM:120433', 'ORDO:1473', 'UMLS_CUI:C0795902']",['DOID:225']
4605,0111252,neurofibromatosis 2,"""A neurofibromatosis characterized by usually bilateral tumors of the eighth cranial nerve, meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord that has_material_basis_in heterozygous of mutation in NF2 on 22q12.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19476995, url:https\://www.ncbi.nlm.nih.gov/pubmed/8379998]",['DO_rare_slim'],"['GARD:7193', 'ICD10CM:Q85.02', 'ICD9CM:237.72', 'MESH:D016518', 'NCI:C3274', 'OMIM:101000', 'ORDO:637', 'SNOMEDCT_US_2022_09_01:700060008', 'UMLS_CUI:C0027832']",['DOID:8712']
4606,0111253,neurofibromatosis 1,"""A neurofibromatosis classically characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin or in some cases by a high load of spinal tumors that has_material_basis_in heterozygous mutation in NF1 on 17q11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19117870, url:https\://www.ncbi.nlm.nih.gov/pubmed/8825042]",['DO_rare_slim'],"['ICD10CM:Q85.01', 'ICD9CM:237.71', 'MESH:D009456', 'NCI:C3273', 'OMIM:162200', 'OMIM:162210', 'ORDO:636', 'SNOMEDCT_US_2022_09_01:92824003', 'UMLS_CUI:C0027831']",['DOID:8712']
4607,0111254,glutaric acidemia I,"""An organic acidemia characterized by impaired  lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in GCDH on chromosome 19p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16602100]",['DO_rare_slim'],"['GARD:6522', 'MESH:C536833', 'OMIM:231670', 'ORDO:25']",['DOID:0060159']
4608,0111255,McKusick-Kaufman syndrome,"""A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10802661, url:https\://www.ncbi.nlm.nih.gov/pubmed/21044901]",['DO_rare_slim'],"['GARD:3427', 'MEDDRA:10052312', 'MESH:C538159', 'OMIM:236700', 'ORDO:2473', 'SNOMEDCT_US_2022_09_01:702407009', 'UMLS_CUI:C0948368']",['DOID:225']
4609,0111256,hyperferritinemia-cataract syndrome,"""A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7493028, url:https\://www.ncbi.nlm.nih.gov/pubmed/7669675]",['DO_rare_slim'],"['GARD:2806', 'MESH:C538137', 'OMIM:600886', 'ORDO:163', 'SNOMEDCT_US_2022_09_01:702398007', 'UMLS_CUI:C1833213']",['DOID:225']
4610,0111257,gamma-glutamyl transpeptidase deficiency,"""An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/29483667]",['DO_rare_slim'],"['GARD:10099', 'MESH:C536836', 'OMIM:231950', 'ORDO:33573', 'SNOMEDCT_US_2022_09_01:78586005', 'UMLS_CUI:C0268524']",['DOID:9252']
4611,0111258,pentosuria,"""An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22042873]",['DO_rare_slim'],"['GARD:418', 'ICD10CM:E74.89', 'MEDDRA:10064170', 'MESH:C536652', 'OMIM:260800', 'ORDO:2843', 'SNOMEDCT_US_2022_09_01:190764000', 'UMLS_CUI:C0268162']",['DOID:9252']
4612,0111259,postaxial acrofacial dysostosis,"""A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19915526, url:https\://www.ncbi.nlm.nih.gov/pubmed/501501]",['DO_rare_slim'],"['GARD:8410', 'MESH:C537680', 'OMIM:263750', 'ORDO:246', 'SNOMEDCT_US_2022_09_01:66038001', 'UMLS_CUI:C0265257']",['DOID:225']
4613,0111260,phosphoribosylpyrophosphate synthetase superactivity,"""An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20301734, url:https\://www.ncbi.nlm.nih.gov/pubmed/8253776]",['DO_rare_slim'],"['MESH:C567064', 'OMIM:300661', 'ORDO:3222', 'SNOMEDCT_US_2022_09_01:723454008', 'UMLS_CUI:C1970827']",['DOID:655']
4614,0111261,fumarase deficiency,"""An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22069215, url:https\://www.ncbi.nlm.nih.gov/pubmed/8200987]",['DO_rare_slim'],"['GARD:6476', 'MESH:C538191', 'OMIM:606812', 'ORDO:24', 'SNOMEDCT_US_2022_09_01:237983002', 'UMLS_CUI:C0342770', 'UMLS_CUI:C2936826']",['DOID:9252']
4615,0111262,infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly,"""A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20950787]",['DO_rare_slim'],"['GARD:10995', 'OMIM:613668', 'ORDO:402364']",['DOID:936']
4616,0111263,combined malonic and methylmalonic acidemia,"""An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21841779, url:https\://www.ncbi.nlm.nih.gov/pubmed/9700595]",['DO_rare_slim'],"['GARD:10818', 'MESH:C580002', 'OMIM:614265', 'ORDO:289504', 'SNOMEDCT_US_2022_09_01:702365002', 'UMLS_CUI:C3280314']",['DOID:0060159']
4617,0111264,Ruijs-Aalfs syndrome,"""A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25261934]",['DO_rare_slim'],"['OMIM:616200', 'ORDO:435953']",['DOID:225']
4618,0111265,Boucher-Neuhauser syndrome,"""A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24355708]",['DO_rare_slim'],"['GARD:944', 'MESH:C565850', 'OMIM:215470', 'ORDO:1180', 'SNOMEDCT_US_2022_09_01:715984007', 'UMLS_CUI:C1859093']",['DOID:225']
4619,0111266,geroderma osteodysplasticum,"""A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18997784, url:https\://www.ncbi.nlm.nih.gov/pubmed/26000619]",['DO_rare_slim'],"['GARD:413', 'MESH:C537799', 'OMIM:231070', 'ORDO:2078', 'SNOMEDCT_US_2022_09_01:254116003', 'UMLS_CUI:C0432255']",['DOID:225']
4620,0111267,hyaline body myopathy,"""A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22918376]",['DO_rare_slim'],"['GARD:7148', 'ORDO:53698']",['DOID:0081337']
4623,0111270,isolated sulfite oxidase deficiency,"""An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK453433/, url:https\://www.ncbi.nlm.nih.gov/pubmed/6025118, url:https\://www.ncbi.nlm.nih.gov/pubmed/9428520]",['DO_rare_slim'],"['GARD:5062', 'ICD10CM:E72.19', 'MESH:C538141', 'OMIM:272300', 'ORDO:99731', 'SNOMEDCT_US_2022_09_01:237935000', 'SNOMEDCT_US_2022_09_01:40873003', 'UMLS_CUI:C0268624', 'UMLS_CUI:C2931746']",['DOID:655']
4624,0111271,Oliver-McFarlane syndrome,"""A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25480986]",['DO_rare_slim'],"['GARD:5266', 'MESH:C536554', 'OMIM:275400', 'ORDO:3363', 'SNOMEDCT_US_2022_09_01:719944006', 'UMLS_CUI:C1848745']",['DOID:225']
4625,0111272,occipital horn syndrome,"""A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7842019, url:https\://www.ncbi.nlm.nih.gov/pubmed/7887410]",['DO_rare_slim'],"['GARD:4017', 'MESH:C537860', 'OMIM:304150', 'ORDO:198', 'SNOMEDCT_US_2022_09_01:59399004', 'UMLS_CUI:C0268353']",['DOID:896']
4626,0111273,NARP syndrome,"""A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2137962]",['DO_rare_slim'],"['GARD:262', 'MEDDRA:10062940', 'MESH:C537396', 'OMIM:551500', 'ORDO:644', 'SNOMEDCT_US_2022_09_01:237984008', 'UMLS_CUI:C1328349']",['DOID:700']
4627,0111274,CODAS syndrome,"""A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25574826]",['DO_rare_slim'],"['GARD:1418', 'MESH:C536434', 'NCI:C126744', 'OMIM:600373', 'ORDO:1458', 'SNOMEDCT_US_2022_09_01:717772000', 'UMLS_CUI:C1838180']",['DOID:225']
4628,0111275,speech-language disorder-1,"""A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11586359, url:https\://www.ncbi.nlm.nih.gov/pubmed/1934976]",['DO_rare_slim'],"['GARD:12889', 'OMIM:602081', 'ORDO:209908']",['DOID:92']
4629,0111276,"sensory ataxic neuropathy, dysarthria, and ophthalmoparesis","""A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12565911, url:https\://www.ncbi.nlm.nih.gov/pubmed/20220442, url:https\://www.ncbi.nlm.nih.gov/pubmed/9222196]",['DO_rare_slim'],"['MESH:C537583', 'OMIM:607459', 'ORDO:70595', 'SNOMEDCT_US_2022_09_01:717266001', 'UMLS_CUI:C1843851']",['DOID:700']
4630,0111277,mitochondrial trifunctional protein deficiency,"""A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12754706, url:https\://www.ncbi.nlm.nih.gov/pubmed/12838198, url:https\://www.ncbi.nlm.nih.gov/pubmed/7738175]",['DO_rare_slim'],"['GARD:3684', 'MESH:C566945', 'NCI:C98991', 'OMIM:609015', 'ORDO:746', 'SNOMEDCT_US_2022_09_01:237999008', 'UMLS_CUI:C1969443']",['DOID:3146']
4631,0111278,histiocytosis-lymphadenopathy plus syndrome,"""A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20140240]",['DO_rare_slim'],"['GARD:7588', 'ICDO:9749/3', 'NCI:C36075', 'OMIM:602782']",['DOID:225']
4682,0111329,pyridoxamine 5'-phosphate oxidase deficiency,"""A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24658933]",['DO_rare_slim'],"['GARD:10730', 'MESH:C566449', 'OMIM:610090', 'ORDO:79096', 'SNOMEDCT_US_2022_09_01:724576005', 'UMLS_CUI:C1864723']",['DOID:0050718']
4683,0111330,combined saposin deficiency,"""A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or coumpound heterozygous mutation in PSAP on 10q22.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11309366, url:https\://www.ncbi.nlm.nih.gov/pubmed/1371116]",['DO_rare_slim'],"['MESH:C567125', 'OMIM:611721', 'ORDO:139406']",['DOID:1927']
4684,0111331,intellectual disability-severe speech delay-mild dysmorphism syndrome,"""A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in FOXP1 on chromosome 3p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24214399]",['DO_rare_slim'],"['GARD:12501', 'OMIM:613670', 'ORDO:391372']",['DOID:0050888']
4686,0111333,early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome,"""A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22101682]",['DO_rare_slim'],"['GARD:12199', 'OMIM:614399', 'ORDO:439212']",['DOID:0081337']
4687,0111334,congenital leptin deficiency,"""A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10523015]",['DO_rare_slim'],"['OMIM:614962', 'ORDO:66628']",['DOID:225']
4688,0111335,myopathy with extrapyramidal signs,"""A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in MICU1 on chromosome 10q22.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24336167]",['DO_rare_slim'],"['GARD:12978', 'OMIM:615673', 'ORDO:401768']",['DOID:423']
4689,0111336,craniofacial-deafness-hand syndrome,"""A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in PAX3 on chromosome 2q36.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/6859126, url:https\://www.ncbi.nlm.nih.gov/pubmed/8664898]",['DO_rare_slim'],"['GARD:1571', 'MESH:C536453', 'OMIM:122880', 'ORDO:1529', 'SNOMEDCT_US_2022_09_01:702362004', 'UMLS_CUI:C1852510']",['DOID:225']
4690,0111337,Jackson-Weiss syndrome,"""A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in FGFR2 on chromosome 10q26.13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1271196, url:https\://www.ncbi.nlm.nih.gov/pubmed/7874170]",['DO_rare_slim'],"['GARD:6796', 'MESH:C537559', 'NCI:C123814', 'OMIM:123150', 'ORDO:1540', 'SNOMEDCT_US_2022_09_01:709105005', 'UMLS_CUI:C0795998']",['DOID:225']
4692,0111339,Vohwinkel syndrome,"""A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in GJB2 on chromosome 13q12.11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10369869]",['DO_rare_slim'],"['MESH:C536457', 'OMIM:124500', 'ORDO:3092', 'ORDO:494', 'SNOMEDCT_US_2022_09_01:24559001', 'UMLS_CUI:C0265964']",['DOID:225']
4693,0111340,dominant optic atrophy plus syndrome,"""A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in OPA1 on chromosome 3q29."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12566046, url:https\://www.ncbi.nlm.nih.gov/pubmed/20157015]",['DO_rare_slim'],"['GARD:5243', 'OMIM:125250', 'SNOMEDCT_US_2022_09_01:715374003', 'UMLS_CUI:C3276549']",['DOID:225']
4694,0111341,primary failure of tooth eruption,"""A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in PTHR1 on chromosome 3p21.31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19061984, url:https\://www.ncbi.nlm.nih.gov/pubmed/29544499]",['DO_rare_slim'],"['MESH:C565114', 'OMIM:125350', 'ORDO:412206', 'SNOMEDCT_US_2022_09_01:1231153007', 'UMLS_CUI:C1852222']",['DOID:1091']
4695,0111342,dermatopathia pigmentosa reticularis,"""An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in KRT14 on chromosome 17q21.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1303619, url:https\://www.ncbi.nlm.nih.gov/pubmed/16960809]",['DO_rare_slim'],"['GARD:8550', 'MESH:C535374', 'OMIM:125595', 'ORDO:86920', 'SNOMEDCT_US_2022_09_01:239088003', 'UMLS_CUI:C0406778']",['DOID:2121']
4696,0111343,lateral meningocele syndrome,"""A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in NOTCH3 on chromosome 19p13.12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25394726]",['DO_rare_slim'],"['GARD:9873', 'MESH:C537878', 'OMIM:130720', 'ORDO:2789', 'UMLS_CUI:C1851710']",['DOID:225']
4698,0111345,transient bullous dermolysis of the newborn,"""An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16225626, url:https\://www.ncbi.nlm.nih.gov/pubmed/9406826]",['DO_rare_slim'],"['GARD:10010', 'MESH:C536979', 'OMIM:131705', 'ORDO:79411', 'SNOMEDCT_US_2022_09_01:723553000', 'UMLS_CUI:C1851573']",['DOID:4959']
4699,0111346,epidermolysis bullosa simplex with mottled pigmentation,"""An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/421361, url:https\://www.ncbi.nlm.nih.gov/pubmed/8799157]",['DO_rare_slim'],"['GARD:9737', 'MESH:C535959', 'OMIM:131960', 'ORDO:79397', 'SNOMEDCT_US_2022_09_01:254180002', 'UMLS_CUI:C0432316']",['DOID:4644']
4701,0111348,multiple epiphyseal dysplasia with myopia and deafness,"""A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/699354, url:https\://www.ncbi.nlm.nih.gov/pubmed/9800905]",['DO_rare_slim'],"['MESH:C565046', 'OMIM:132450', 'ORDO:166011', 'UMLS_CUI:C1851536']",['DOID:225']
4703,0111350,Laurin-Sandrow syndrome,"""A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of LMBR1 on chromosome 7q36.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24456159, url:https\://www.ncbi.nlm.nih.gov/pubmed/4314818]",['DO_rare_slim'],"['GARD:155', 'MESH:C535689', 'OMIM:135750', 'ORDO:2378', 'SNOMEDCT_US_2022_09_01:715440003', 'UMLS_CUI:C1851100']",['DOID:1934']
4710,0111357,adermatoglyphia,"""A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in SMARCAD1 on chromosome 4q22.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21820097]",['DO_rare_slim'],"['GARD:12550', 'OMIM:136000', 'ORDO:289465']",['DOID:37']
4711,0111358,Floating-Harbor syndrome,"""A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in SRCAP on chromosome 16p11.2."" [url:https\://ghr.nlm.nih.gov/condition/floating-harbor-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/22265015, url:https\://www.ncbi.nlm.nih.gov/pubmed/7588969]",['DO_rare_slim'],"['GARD:6455', 'MESH:C537062', 'NCI:C175241', 'OMIM:136140', 'ORDO:2044', 'SNOMEDCT_US_2022_09_01:205810007', 'UMLS_CUI:C0729582']",['DOID:225']
4712,0111359,large congenital melanocytic nevus,"""A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in NRAS on chromosome 11p15.5."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18671780, url:https\://www.ncbi.nlm.nih.gov/pubmed/23392294]",['DO_rare_slim'],"['GARD:2469', 'MEDDRA:10072036', 'MESH:C536819', 'NCI:C3944', 'NCI:C4234', 'OMIM:137550', 'ORDO:626', 'SNOMEDCT_US_2022_09_01:254815002', 'SNOMEDCT_US_2022_09_01:84953004', 'UMLS_CUI:C1318558', 'UMLS_CUI:C1842036']",['DOID:37']
4715,0111362,hawkinsinuria,"""An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11073718]",['DO_rare_slim'],"['GARD:5668', 'MESH:C535845', 'OMIM:140350', 'ORDO:2118', 'SNOMEDCT_US_2022_09_01:403001', 'UMLS_CUI:C2931042']",['DOID:9252']
4716,0111363,Heinz body anemia,"""A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in HBA1, HBA2 or HBB on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14184033, url:https\://www.ncbi.nlm.nih.gov/pubmed/3997544, url:https\://www.ncbi.nlm.nih.gov/pubmed/8704193]",['DO_rare_slim'],"['GARD:10718', 'OMIM:140700']",['DOID:2861']
4720,0111367,Beukes hip dysplasia,"""An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26428751]",['DO_rare_slim'],"['GARD:2690', 'MESH:C564185', 'OMIM:142669', 'ORDO:2114', 'SNOMEDCT_US_2022_09_01:721148005', 'UMLS_CUI:C1840572']",['DOID:8398']
4721,0111368,cholesterol-ester transfer protein deficiency,"""A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/168823]",['DO_rare_slim'],['ORDO:79506'],['DOID:3146']
4724,0111371,isolated hyperchlorhidrosis,"""A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in CA12 on chromosome 15q22.2."" [url:https\://ghr.nlm.nih.gov/condition/isolated-hyperchlorhidrosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/21184099]",['DO_rare_slim'],"['OMIM:143860', 'ORDO:542657', 'SNOMEDCT_US_2022_09_01:709413001', 'UMLS_CUI:C1840437']",['DOID:37']
4726,0111374,selective pituitary thyroid hormone resistance,"""A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in THRB on chromosome 3p24.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/6798060, url:https\://www.ncbi.nlm.nih.gov/pubmed/8040303]",['DO_rare_slim'],"['MESH:C564154', 'OMIM:145650', 'ORDO:165994', 'UMLS_CUI:C1840364']",['DOID:7998']
4727,0111375,fetal akinesia deformation sequence syndrome,"""A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19261599, url:https\://www.ncbi.nlm.nih.gov/pubmed/22482962, url:https\://www.ncbi.nlm.nih.gov/pubmed/30498368]",['DO_rare_slim'],"['GARD:9634', 'MESH:C536647', 'NCI:C129071', 'OMIM:PS208150', 'ORDO:994', 'SNOMEDCT_US_2022_09_01:401138005', 'UMLS_CUI:C1276035']",['DOID:225']
4732,0111380,solitary median maxillary central incisor,"""A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11471164]",['DO_rare_slim'],"['GARD:4877', 'OMIM:147250']",['DOID:1091']
4733,0111381,IVIC syndrome,"""A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in SALL4 on chromosome 20q13.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17256792, url:https\://www.ncbi.nlm.nih.gov/pubmed/7395922]",['DO_rare_slim'],"['GARD:269', 'MESH:C535544', 'OMIM:147750', 'ORDO:2307', 'SNOMEDCT_US_2022_09_01:722019000', 'UMLS_CUI:C1327918']",['DOID:225']
4734,0111382,ischiocoxopodopatellar syndrome,"""A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in TBX4 on chromosome 17q23.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11303519, url:https\://www.ncbi.nlm.nih.gov/pubmed/15106123]",['DO_rare_slim'],"['GARD:3030', 'MESH:C535540', 'MESH:C536307', 'OMIM:147891', 'ORDO:1509', 'SNOMEDCT_US_2022_09_01:720752007', 'UMLS_CUI:C1840061', 'UMLS_CUI:C1868581']",['DOID:1934']
4735,0111383,autosomal dominant keratitis,"""A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in PAX6 on chromosome 11p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7668281]",['DO_rare_slim'],"['GARD:3089', 'MESH:C537022', 'OMIM:148190', 'ORDO:2334', 'SNOMEDCT_US_2022_09_01:715339004', 'UMLS_CUI:C1835698']",['DOID:4677']
4741,0111389,mucopolysaccharidosis Ih/s,"""A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10466419, url:https\://www.ncbi.nlm.nih.gov/pubmed/2128891, url:https\://www.ncbi.nlm.nih.gov/pubmed/7550242]",['DO_rare_slim'],"['GARD:12560', 'ICD10CM:E76.02', 'MESH:D008059', 'NCI:C122782', 'OMIM:607015', 'ORDO:93476', 'SNOMEDCT_US_2022_09_01:26745009', 'UMLS_CUI:C0086431']",['DOID:12802']
4742,0111390,mucopolysaccharidosis Ih,"""A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/3124802, url:https\://www.ncbi.nlm.nih.gov/pubmed/7550242]",['DO_rare_slim'],"['GARD:12559', 'ICD10CM:E76.01', 'MESH:D008059', 'NCI:C61261', 'OMIM:607014', 'ORDO:93473', 'SNOMEDCT_US_2022_09_01:65327002', 'UMLS_CUI:C0086795']",['DOID:12802']
4743,0111391,mucopolysaccharidosis IVA,"""A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in GALNS on chromosome 16q24.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18412124, url:https\://www.ncbi.nlm.nih.gov/pubmed/7607677]",['DO_rare_slim'],"['GARD:3785', 'ICD10CM:E76.210', 'MESH:D009085', 'NCI:C84901', 'OMIM:253000', 'ORDO:309297', 'SNOMEDCT_US_2022_09_01:7259005', 'UMLS_CUI:C0086651']",['DOID:12804']
4744,0111392,mucopolysaccharidosis type IVB,"""A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in GLB1 on chromosome 3p22.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1928092, url:https\://www.ncbi.nlm.nih.gov/pubmed/817853]",['DO_rare_slim'],"['ICD10CM:E76.211', 'MESH:D009085', 'NCI:C84902', 'OMIM:253010', 'ORDO:309310', 'SNOMEDCT_US_2022_09_01:254075008', 'UMLS_CUI:C0086652']",['DOID:12804']
4745,0111393,mucopolysaccharidosis type IIIC,"""A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in HGSNAT on chromosome 8p11.2-p11.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16960811]",['DO_rare_slim'],"['GARD:7073', 'ICD10CM:E76.22', 'MESH:D009084', 'NCI:C84899', 'OMIM:252930', 'ORDO:79271', 'SNOMEDCT_US_2022_09_01:75238000', 'UMLS_CUI:C0086649']",['DOID:12801']
4746,0111394,mucopolysaccharidosis type IIIB,"""A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15933803, url:https\://www.ncbi.nlm.nih.gov/pubmed/8650226]",['DO_rare_slim'],"['GARD:7072', 'ICD10CM:E76.22', 'MESH:D009084', 'NCI:C84898', 'OMIM:252920', 'ORDO:79270', 'SNOMEDCT_US_2022_09_01:254071004', 'UMLS_CUI:C0086648']",['DOID:12801']
4747,0111395,mucopolysaccharidosis type IIIA,"""A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in SGSH on chromosome 17q25.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/6796310, url:https\://www.ncbi.nlm.nih.gov/pubmed/7493035]",['DO_rare_slim'],"['ICD10CM:E76.22', 'MESH:D009084', 'NCI:C84897', 'OMIM:252900', 'ORDO:79269', 'SNOMEDCT_US_2022_09_01:254070003', 'UMLS_CUI:C0086647']",['DOID:12801']
4748,0111396,congenital dyserythropoietic anemia type I,"""A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16098079]",['DO_rare_slim'],"['GARD:2000', 'ORDO:98869']",['DOID:1338']
4751,0111399,congenital dyserythropoietic anemia type III,"""A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7711721]",['DO_rare_slim'],"['GARD:2002', 'MESH:D000742', 'OMIM:105600', 'ORDO:98870', 'SNOMEDCT_US_2022_09_01:26409005', 'UMLS_CUI:C0271934']",['DOID:1338']
4752,0111400,congenital dyserythropoietic anemia type IV,"""A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in KLF1 on chromosome 19p13.13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21055716]",['DO_rare_slim'],"['NCI:C157148', 'OMIM:613673', 'ORDO:293825', 'SNOMEDCT_US_2022_09_01:719453009', 'UMLS_CUI:C3150926']",['DOID:1338']
4753,0111401,congenital dyserythropoietic anemia type II,"""A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in SEC23B on chromosome 20p11.23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19561605]",['DO_rare_slim'],"['GARD:2001', 'MESH:D000742', 'NCI:C175991', 'OMIM:224100', 'ORDO:98873', 'SNOMEDCT_US_2022_09_01:68870007', 'UMLS_CUI:C1306589']",['DOID:1338']
4754,0111402,mucopolysaccharidosis type IIID,"""A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12573255]",['DO_rare_slim'],"['GARD:7074', 'ICD10CM:E76.22', 'MESH:D009084', 'NCI:C84900', 'OMIM:252940', 'ORDO:79272', 'SNOMEDCT_US_2022_09_01:15892005', 'UMLS_CUI:C0086650']",['DOID:12801']
4756,0111404,Jalili syndrome,"""A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19200527, url:https\://www.ncbi.nlm.nih.gov/pubmed/3236352]",['DO_rare_slim'],"['GARD:1463', 'MESH:C000596385', 'OMIM:217080', 'ORDO:1873', 'SNOMEDCT_US_2022_09_01:707608003', 'UMLS_CUI:C3495589']",['DOID:225']
4766,0111414,trichohepatoenteric syndrome,"""A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28944135]",['DO_rare_slim'],"['GARD:5258', 'MESH:C565627', 'OMIM:PS222470', 'ORDO:84064', 'SNOMEDCT_US_2022_09_01:703406006', 'UMLS_CUI:C1857276']",['DOID:225']
4769,0111417,familial chylomicronemia syndrome,"""A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23525082]",['DO_rare_slim'],['ORDO:444490'],['DOID:1168']
4770,0111418,familial apolipoprotein C-II deficiency,"""A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in APOC2 on chromosome 19q13.32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/3467353]",['DO_rare_slim'],"['MESH:D008072', 'OMIM:207750', 'ORDO:309020', 'SNOMEDCT_US_2022_09_01:33513003', 'UMLS_CUI:C0268199', 'UMLS_CUI:C1720779']",['DOID:0111417']
4772,0111420,familial GPIHBP1 deficiency,"""A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in GPIHBP1 on chromosome 8q24.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17883852, url:https\://www.ncbi.nlm.nih.gov/pubmed/23525082]",['DO_rare_slim'],"['OMIM:615947', 'ORDO:535458']",['DOID:0111417']
4773,0111421,familial apolipoprotein A5 deficiency,"""A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in APOA5 on chromosome 11q23.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16200213, url:https\://www.ncbi.nlm.nih.gov/pubmed/23525082]",['DO_rare_slim'],"['OMIM:144650', 'ORDO:530849']",['DOID:0111417']
4774,0111422,familial lipase maturation factor 1 deficiency,"""A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in LMF1 on chromosome 16p13.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17994020, url:https\://www.ncbi.nlm.nih.gov/pubmed/23525082]",['DO_rare_slim'],"['OMIM:246650', 'ORDO:535453']",['DOID:0111417']
4785,0111433,optic atrophy 3,"""An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in OPA3 on chromosome 19q13.32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15342707]",['DO_rare_slim'],"['GARD:10203', 'MESH:C537128', 'OMIM:165300', 'ORDO:67036', 'SNOMEDCT_US_2022_09_01:719517009', 'UMLS_CUI:C1833809']",['DOID:5723']
4796,0111444,progressive myoclonus epilepsy 4,"""A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in SCARB2 on chromosome 4q21.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15364701, url:https\://www.ncbi.nlm.nih.gov/pubmed/19847901]",['DO_rare_slim'],"['MESH:D020191', 'OMIM:254900', 'ORDO:163696', 'SNOMEDCT_US_2022_09_01:764453009', 'UMLS_CUI:C0751779']",['DOID:891']
4797,0111445,progressive myoclonus epilepsy 10,"""A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in PRDM8 on chromosome 4q21.21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22961547]",['DO_rare_slim'],"['OMIM:616640', 'ORDO:324290']",['DOID:891']
4798,0111446,progressive myoclonus epilepsy 3,"""A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in KCTD7 on chromosome 7q11.21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17455289, url:https\://www.ncbi.nlm.nih.gov/pubmed/22748208]",['DO_rare_slim'],"['GARD:2167', 'MESH:C567095', 'OMIM:611726', 'ORDO:263516', 'SNOMEDCT_US_2022_09_01:783064000', 'UMLS_CUI:C2673257']",['DOID:891']
4799,0111447,progressive myoclonus epilepsy 7,"""A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in KCNC1 on chromosome 11p15.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25401298]",['DO_rare_slim'],"['NCI:C142804', 'OMIM:616187', 'ORDO:435438', 'SNOMEDCT_US_2022_09_01:1208939001', 'UMLS_CUI:C4015420']",['DOID:891']
4801,0111449,progressive myoclonus epilepsy 6,"""A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in GOSR2 on chromosome 17q21.32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21549339]",['DO_rare_slim'],"['GARD:3872', 'OMIM:614018', 'ORDO:280620']",['DOID:891']
4802,0111450,progressive myoclonus epilepsy 9,"""A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in LMNB2 on chromosome 19p13.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25954030]",['DO_rare_slim'],"['OMIM:616540', 'ORDO:457265']",['DOID:891']
4803,0111451,progressive myoclonus epilepsy 8,"""A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19243074, url:https\://www.ncbi.nlm.nih.gov/pubmed/24782409]",['DO_rare_slim'],"['OMIM:616230', 'ORDO:424027']",['DOID:891']
4805,0111453,2-aminoadipic 2-oxoadipic aciduria,"""An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in DHTKD1 on chromosome 10p14."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23141293]",['DO_rare_slim'],"['OMIM:204750', 'ORDO:79154']",['DOID:9252']
4806,0111454,SHORT syndrome,"""A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in PIK3R1 on chromosome 5q13."" [url:https\://ghr.nlm.nih.gov/condition/short-stature-hyperextensibility-hernia-ocular-depression-rieger-anomaly-and-teething-delay, url:https\://www.ncbi.nlm.nih.gov/pubmed/23810382]",['DO_rare_slim'],"['GARD:7633', 'MESH:C537327', 'OMIM:269880', 'ORDO:3163', 'UMLS_CUI:C0878684']",['DOID:225']
4807,0111455,GRACILE syndrome,"""A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in BCS1L on chromosome 2q35."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12215968, url:https\://www.ncbi.nlm.nih.gov/pubmed/9482441]",['DO_rare_slim'],"['GARD:1', 'MESH:C537934', 'OMIM:603358', 'ORDO:53693', 'SNOMEDCT_US_2022_09_01:703388005', 'UMLS_CUI:C1864002']",['DOID:700']
4808,0111456,Kaufman oculocerebrofacial syndrome,"""A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compund heterozygous mutation in UBE3B on chromosome 12q24.11."" [url:https\://ghr.nlm.nih.gov/condition/kaufman-oculocerebrofacial-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/23200864]",['DO_rare_slim'],"['GARD:3084', 'MESH:C537013', 'OMIM:244450', 'ORDO:2707', 'SNOMEDCT_US_2022_09_01:722056009', 'UMLS_CUI:C1855663']",['DOID:0050888']
4809,0111457,STING-associated vasculopathy with onset in infancy,"""An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in TMEM173 on chromosome 5q31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25029335]",['DO_rare_slim'],"['GARD:12357', 'OMIM:615934', 'ORDO:425120']",['DOID:0060051']
4810,0111458,galactose epimerase deficiency,"""A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALE on chromosome 1p36.11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8593531, url:https\://www.ncbi.nlm.nih.gov/pubmed/9700591]",['DO_rare_slim'],"['GARD:5392', 'MESH:D005693', 'OMIM:230350', 'ORDO:79238', 'SNOMEDCT_US_2022_09_01:8849004', 'UMLS_CUI:C0751161']",['DOID:9870']
4811,0111459,classic galactosemia,"""A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in GALT on chromosome 9p13.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11261429]",['DO_rare_slim'],"['GARD:13639', 'MESH:D005693', 'NCI:C99104', 'OMIM:230400', 'ORDO:79239', 'SNOMEDCT_US_2022_09_01:398664009', 'UMLS_CUI:C0268151']",['DOID:9870']
4817,0111465,combined oxidative phosphorylation deficiency 21,"""A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in TARS2 on chromosome 1q21.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24827421]",['DO_rare_slim'],"['OMIM:615918', 'ORDO:420733']",['DOID:0060286']
4820,0111468,combined oxidative phosphorylation deficiency 25,"""A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MARS2 on chromosome 2q33.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25754315]",['DO_rare_slim'],"['OMIM:616430', 'ORDO:447954']",['DOID:0060286']
4821,0111469,combined oxidative phosphorylation deficiency 16,"""A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compund heterozygous mutation in MRPL44 on chromosome 2q36.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23315540]",['DO_rare_slim'],"['GARD:12892', 'OMIM:615395', 'ORDO:352563']",['DOID:0060286']
4822,0111470,combined oxidative phosphorylation deficiency 28,"""A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A26 on chromosome 3p14.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27132592]",['DO_rare_slim'],"['OMIM:616794', 'ORDO:466784']",['DOID:0060286']
4823,0111471,combined oxidative phosphorylation deficiency 30,"""A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TRMT10C on chromosome 3q12.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27132592]",['DO_rare_slim'],"['OMIM:616974', 'ORDO:478042']",['DOID:0060286']
4824,0111472,combined oxidative phosphorylation deficiency 9,"""A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPL3 on chromosome 3q22.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21786366]",['DO_rare_slim'],"['OMIM:614582', 'ORDO:319509']",['DOID:0060286']
4825,0111473,combined oxidative phosphorylation deficiency 5,"""A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in MRPS22 on chromosome 3q23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17873122, url:https\://www.ncbi.nlm.nih.gov/pubmed/21189481]",['DO_rare_slim'],"['MESH:C567126', 'OMIM:611719', 'ORDO:137908']",['DOID:0060286']
4826,0111474,combined oxidative phosphorylation deficiency 1,"""A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GFM1 on chromosome 3q25.32."" [url:https\://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency-1]",['DO_rare_slim'],"['MESH:C563797', 'NCI:C125663', 'OMIM:609060', 'ORDO:137681', 'UMLS_CUI:C1836797']",['DOID:0060286']
4828,0111476,combined oxidative phosphorylation deficiency 19,"""A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in LYRM4 on chromosome 6p25.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23814038]",['DO_rare_slim'],"['OMIM:615595', 'ORDO:397593']",['DOID:0060286']
4829,0111477,combined oxidative phosphorylation deficiency 14,"""A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in FARS2 on chromosome 6p25.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22499341, url:https\://www.ncbi.nlm.nih.gov/pubmed/22833457]",['DO_rare_slim'],"['OMIM:614946', 'ORDO:319519']",['DOID:0060286']
4830,0111478,combined oxidative phosphorylation deficiency 20,"""A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in VARS2 on chromosome 6p21.33."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25058219]",['DO_rare_slim'],"['OMIM:615917', 'ORDO:420728']",['DOID:0060286']
4831,0111479,combined oxidative phosphorylation deficiency 8,"""A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in AARS2 on chromosome 6p21.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21549344]",['DO_rare_slim'],"['OMIM:614096', 'ORDO:319504']",['DOID:0060286']
4832,0111480,combined oxidative phosphorylation deficiency 10,"""A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in MTO1 on chromosome 6q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22608499]",['DO_rare_slim'],"['OMIM:614702', 'ORDO:314637']",['DOID:0060286']
4833,0111481,combined oxidative phosphorylation deficiency 11,"""A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in RMND1 on chromosome 6q25.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23022099]",['DO_rare_slim'],"['OMIM:614922', 'ORDO:324535']",['DOID:0060286']
4835,0111483,combined oxidative phosphorylation deficiency 2,"""A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS16 on chromosome 10q22.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15505824]",['DO_rare_slim'],"['MESH:C566468', 'OMIM:610498', 'ORDO:254920']",['DOID:0060286']
4836,0111484,combined oxidative phosphorylation deficiency 18,"""A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in SFXN4 on chromosome 10q26.11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24119684]",['DO_rare_slim'],"['OMIM:615578', 'ORDO:391348']",['DOID:0060286']
4837,0111485,combined oxidative phosphorylation deficiency 24,"""A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in NARS2 on chromosome 11q14.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25385316, url:https\://www.ncbi.nlm.nih.gov/pubmed/25629079, url:https\://www.ncbi.nlm.nih.gov/pubmed/28077841]",['DO_rare_slim'],"['OMIM:616239', 'ORDO:444458']",['DOID:0060286']
4838,0111486,combined oxidative phosphorylation deficiency 3,"""A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TSFM on chromosome 12q14.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17033963, url:https\://www.ncbi.nlm.nih.gov/pubmed/25037205]",['DO_rare_slim'],"['MESH:C566467', 'OMIM:610505', 'ORDO:168566', 'UMLS_CUI:C1864840']",['DOID:0060286']
4839,0111487,combined oxidative phosphorylation deficiency 7,"""A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20598281]",['DO_rare_slim'],"['OMIM:613559', 'ORDO:254930']",['DOID:0060286']
4840,0111488,combined oxidative phosphorylation deficiency 31,"""A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in MIPEP on chromosome 13q12.12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27799064]",['DO_rare_slim'],"['OMIM:617228', 'ORDO:478049']",['DOID:0060286']
4841,0111489,combined oxidative phosphorylation deficiency 27,"""A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in CARS2 on chromosome 13q34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25361775, url:https\://www.ncbi.nlm.nih.gov/pubmed/25787132]",['DO_rare_slim'],"['OMIM:616672', 'ORDO:477774']",['DOID:0060286']
4842,0111490,combined oxidative phosphorylation deficiency 26,"""A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TRMT5 on chromosome 14q23.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26189817]",['DO_rare_slim'],"['OMIM:616539', 'ORDO:477684']",['DOID:0060286']
4843,0111491,combined oxidative phosphorylation deficiency 15,"""A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in MTFMT on chromosome 15q22.31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21907147]",['DO_rare_slim'],"['OMIM:614947', 'ORDO:319524']",['DOID:0060286']
4845,0111493,combined oxidative phosphorylation deficiency 12,"""A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in EARS2 on chromosome 16p12.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22492562, url:https\://www.ncbi.nlm.nih.gov/pubmed/23008233]",['DO_rare_slim'],"['GARD:13381', 'OMIM:614924', 'ORDO:314051']",['DOID:0060286']
4846,0111494,combined oxidative phosphorylation deficiency 4,"""A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TUFM on chromosome 16p11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17160893]",['DO_rare_slim'],"['MESH:C565690', 'OMIM:610678', 'ORDO:254925', 'SNOMEDCT_US_2022_09_01:766876004', 'UMLS_CUI:C1857682']",['DOID:0060286']
4848,0111496,combined oxidative phosphorylation deficiency 17,"""A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in ELAC2 on chromosome 17p12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23849775]",['DO_rare_slim'],"['OMIM:615440', 'ORDO:369913']",['DOID:0060286']
4849,0111497,combined oxidative phosphorylation deficiency 34,"""A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in MRPS7 on chromosome 17q25.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25556185]",['DO_rare_slim'],"['OMIM:617872', 'ORDO:457223']",['DOID:0060286']
4852,0111500,combined oxidative phosphorylation deficiency 23,"""A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in GTPBP3 on chromosome 19p13.11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25434004]",['DO_rare_slim'],"['OMIM:616198', 'ORDO:444013']",['DOID:0060286']
4854,0111502,combined oxidative phosphorylation deficiency 6,"""A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in AIFM1 on chromosome Xq26.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20362274]",['DO_rare_slim'],"['OMIM:300816', 'ORDO:238329']",['DOID:0060286']
4857,0111505,palmoplantar keratoderma-deafness syndrome,"""A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in GJB2 on chromosome 13q12.11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10633135, url:https\://www.ncbi.nlm.nih.gov/pubmed/1532426]",['DO_rare_slim'],"['GARD:3094', 'MESH:C536152', 'OMIM:148350', 'ORDO:2202', 'SNOMEDCT_US_2022_09_01:722203001', 'UMLS_CUI:C1835672']",['DOID:225']
4858,0111506,palmoplantar keratoderma-esophageal carcinoma syndrome,"""A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in RHBDF2 on chromosome 17q25.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/13579162, url:https\://www.ncbi.nlm.nih.gov/pubmed/22265016]",['DO_rare_slim'],"['GARD:3102', 'MESH:C536164', 'OMIM:148500', 'ORDO:2198', 'UMLS_CUI:C1835664']",['DOID:225']
4859,0111507,Lenz-Majewski hyperostotic dwarfism,"""A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in PTDSS1 on chromosome 8q22.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24241535]",['DO_rare_slim'],"['GARD:3223', 'MESH:C537115', 'OMIM:151050', 'ORDO:2658', 'SNOMEDCT_US_2022_09_01:1393001', 'UMLS_CUI:C0432269']",['DOID:225']
4860,0111508,Torrance type platyspondylic dysplasia,"""An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14729840, url:https\://www.ncbi.nlm.nih.gov/pubmed/448481]",['DO_rare_slim'],"['GARD:4382', 'MESH:C563627', 'OMIM:151210', 'ORDO:85166', 'UMLS_CUI:C1835437']",['DOID:2256']
4861,0111509,lymphedema-distichiasis syndrome,"""A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in FOXC2 on chromosome 16q24.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11078474]",['DO_rare_slim'],"['GARD:333', 'MESH:C537710', 'NCI:C128191', 'OMIM:153400', 'ORDO:33001', 'SNOMEDCT_US_2022_09_01:8634009', 'UMLS_CUI:C0265345']",['DOID:225']
4862,0111510,Marshall syndrome,"""An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in COL11A1 on chromosome 1p21.1. Mutations, typically null, in COL11A1 may also cause Stickler syndrome."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/13520885, url:https\://www.ncbi.nlm.nih.gov/pubmed/25073711, url:https\://www.ncbi.nlm.nih.gov/pubmed/9529347]",['DO_rare_slim'],"['GARD:6984', 'MESH:C536025', 'NCI:C128115', 'OMIM:154780', 'ORDO:560', 'SNOMEDCT_US_2022_09_01:33410002', 'UMLS_CUI:C0265235']",['DOID:2121']
4863,0111511,melanoma and neural system tumor syndrome,"""A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in CDKN2A on chromosome 9p21.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10797439, url:https\://www.ncbi.nlm.nih.gov/pubmed/8414022, url:https\://www.ncbi.nlm.nih.gov/pubmed/8635060]",['DO_rare_slim'],"['GARD:8468', 'MESH:C536149', 'NCI:C176905', 'OMIM:155755', 'ORDO:252206', 'SNOMEDCT_US_2022_09_01:717968005', 'UMLS_CUI:C1835042']",['DOID:225']
4864,0111512,metachondromatosis,"""An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in PTPN11 on chromosome 12q24.13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20577567]",['DO_rare_slim'],"['GARD:3560', 'MESH:C562938', 'OMIM:156250', 'ORDO:2499', 'SNOMEDCT_US_2022_09_01:205481009', 'UMLS_CUI:C0410530']",['DOID:2256']
4865,0111513,metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome,"""An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of RUNX2 on chromosome 6p21.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23290074, url:https\://www.ncbi.nlm.nih.gov/pubmed/7137223]",['DO_rare_slim'],"['GARD:3568', 'OMIM:156510', 'ORDO:2504']",['DOID:2256']
4866,0111514,metatropic dysplasia,"""A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."" [url:https\://ghr.nlm.nih.gov/condition/metatropic-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/18348257, url:https\://www.ncbi.nlm.nih.gov/pubmed/4963592]",['DO_rare_slim'],"['GARD:3571', 'MESH:C537356', 'NCI:C175209', 'OMIM:156530', 'ORDO:2635', 'SNOMEDCT_US_2022_09_01:22764001', 'UMLS_CUI:C0265281']",['DOID:0080027']
4867,0111515,autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2,"""A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in RNASEH1 on chromosome 2p25.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26094573]",['DO_rare_slim'],"['OMIM:616479', 'ORDO:329336']",['DOID:12558']
4868,0111516,autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4,"""A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in DGUOK on chromosome 2p13.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23043144]",['DO_rare_slim'],"['OMIM:617070', 'ORDO:329314']",['DOID:12558']
4871,0111519,autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions  6,"""A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in DNA2 on chromosome 10q21.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23352259]",['DO_rare_slim'],"['OMIM:615156', 'ORDO:352470']",['DOID:12558']
4878,0111526,Mullerian aplasia and hyperandrogenism,"""A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in WNT4 on chromosome 1p36.12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15317892]",['DO_rare_slim'],"['MESH:C567186', 'NCI:C120376', 'OMIM:158330', 'ORDO:247768', 'UMLS_CUI:C2675014']",['DOID:1923']
4879,0111527,spinal muscular atrophy with progressive myoclonic epilepsy,"""A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in ASAH1 on chromosome 8p22."" [url:https\://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy, url:https\://www.ncbi.nlm.nih.gov/pubmed/22703880]",['DO_rare_slim'],"['GARD:3044', 'GARD:3875', 'MESH:C537563', 'OMIM:159950', 'ORDO:2590', 'SNOMEDCT_US_2022_09_01:703524005', 'UMLS_CUI:C1834569']",['DOID:12377']
4880,0111528,Naegeli-Franceschetti-Jadassohn syndrome,"""A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in KRT14 on chromosome 17q21.2."" [url:https\://ghr.nlm.nih.gov/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis, url:https\://www.ncbi.nlm.nih.gov/pubmed/16960809]",['DO_rare_slim'],"['GARD:3912', 'MESH:C538331', 'OMIM:161000', 'ORDO:69087', 'SNOMEDCT_US_2022_09_01:239084001', 'UMLS_CUI:C0343111']",['DOID:2121']
4881,0111529,familial multiple nevi flammei,"""A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16846771, url:https\://www.ncbi.nlm.nih.gov/pubmed/6716409]",['DO_rare_slim'],"['GARD:3986', 'MESH:C535816', 'OMIM:163000', 'ORDO:624', 'SNOMEDCT_US_2022_09_01:763714006', 'UMLS_CUI:C2931029']",['DOID:1271']
4882,0111530,linear nevus sebaceous syndrome,"""A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in NRAS, HRAS, or KRAS on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17366580, url:https\://www.ncbi.nlm.nih.gov/pubmed/1918493, url:https\://www.ncbi.nlm.nih.gov/pubmed/22683711, url:https\://www.ncbi.nlm.nih.gov/pubmed/24006476]",['DO_rare_slim'],"['GARD:10291', 'OMIM:163200', 'ORDO:2612', 'SNOMEDCT_US_2022_09_01:707136009', 'UMLS_CUI:C3854181']",['DOID:225']
4883,0111531,bilateral optic nerve hypoplasia,"""An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in PAX6 on chromosome 11p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12721955]",['DO_rare_slim'],"['GARD:8419', 'ICD10CM:H47.03', 'ICD9CM:377.43', 'MESH:D000080344', 'NCI:C98999', 'OMIM:165550', 'ORDO:137902', 'SNOMEDCT_US_2022_09_01:95499004', 'UMLS_CUI:C0338502']",['DOID:1891']
4884,0111532,osteoglophonic dysplasia,"""An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in FGFR1 on chromosome 8p11.23."" [url:https\://ghr.nlm.nih.gov/condition/osteoglophonic-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/15625620, url:https\://www.ncbi.nlm.nih.gov/pubmed/7422392]",['DO_rare_slim'],"['GARD:4142', 'MESH:C536050', 'OMIM:166250', 'ORDO:2645', 'SNOMEDCT_US_2022_09_01:254144002', 'UMLS_CUI:C0432283']",['DOID:2256']
4885,0111533,gnathodiaphyseal dysplasia,"""An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in ANO5 on chromosome11p14.3."" [url:https\://ghr.nlm.nih.gov/condition/gnathodiaphyseal-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/15124103, url:https\://www.ncbi.nlm.nih.gov/pubmed/23047743]",['DO_rare_slim'],"['GARD:8698', 'MESH:C536039', 'OMIM:166260', 'ORDO:53697', 'SNOMEDCT_US_2022_09_01:715568002', 'UMLS_CUI:C1833736']",['DOID:2256']
4886,0111534,multicentric carpotarsal osteolysis syndrome,"""A syndrome characterized by progressive loss of bone, typically involving the capsal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in MAFB on chromosome 20q12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22387013, url:https\://www.ncbi.nlm.nih.gov/pubmed/3041835]",['DO_rare_slim'],"['GARD:3818', 'MESH:C567171', 'NCI:C178416', 'OMIM:166300', 'ORDO:2774', 'SNOMEDCT_US_2022_09_01:766992008', 'UMLS_CUI:C2674705']",['DOID:225']
4887,0111535,progressive osseous heteroplasia,"""A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of GNAS on chromosome 20q13.32."" [url:https\://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/11784876, url:https\://www.ncbi.nlm.nih.gov/pubmed/8126048]",['DO_rare_slim'],"['GARD:109', 'MEDDRA:10048902', 'MESH:C562735', 'NCI:C132062', 'OMIM:166350', 'ORDO:2762', 'SNOMEDCT_US_2022_09_01:404074003', 'UMLS_CUI:C0334041']",['DOID:225']
4888,0111536,Buschke-Ollendorff syndrome,"""A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in LEMD3 on chromosome 12q14.3."" [url:https\://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15489854, url:https\://www.ncbi.nlm.nih.gov/pubmed/19438932]",['DO_rare_slim'],"['GARD:1044', 'MESH:C537415', 'OMIM:166700', 'ORDO:1306', 'SNOMEDCT_US_2022_09_01:60399005', 'UMLS_CUI:C0265514']",['DOID:225']
4889,0111537,paroxysmal extreme pain disorder,"""An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3."" [url:https\://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder, url:https\://www.ncbi.nlm.nih.gov/pubmed/17145499]",['DO_rare_slim'],"['GARD:12854', 'MESH:C563475', 'NCI:C125385', 'OMIM:167400', 'ORDO:46348', 'SNOMEDCT_US_2022_09_01:699190008', 'UMLS_CUI:C1833661']",['DOID:11465']
4890,0111538,paramyotonia congenita of Von Eulenburg,"""A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in SCN4A on chromosome 17q23.3."" [url:https\://ghr.nlm.nih.gov/condition/paramyotonia-congenita, url:https\://www.ncbi.nlm.nih.gov/pubmed/1316765]",['DO_rare_slim'],"['GARD:7325', 'ICD10CM:G71.19', 'MESH:D020967', 'NCI:C122790', 'OMIM:168300', 'ORDO:684', 'SNOMEDCT_US_2022_09_01:41574007', 'UMLS_CUI:C0221055']",['DOID:440']
4891,0111539,parastremmatic dwarfism,"""An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20503319, url:https\://www.ncbi.nlm.nih.gov/pubmed/4992387]",['DO_rare_slim'],"['GARD:4222', 'MESH:C537172', 'OMIM:168400', 'ORDO:2646', 'SNOMEDCT_US_2022_09_01:722210007', 'UMLS_CUI:C1868616']",['DOID:2256']
4892,0111540,prolidase deficiency,"""An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in PEPD on chromosome 19q13.11."" [url:https\://ghr.nlm.nih.gov/condition/prolidase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/18340504, url:https\://www.ncbi.nlm.nih.gov/pubmed/1972707]",['DO_rare_slim'],"['GARD:7473', 'MESH:D056732', 'NCI:C85029', 'OMIM:170100', 'ORDO:742', 'SNOMEDCT_US_2022_09_01:360994007', 'UMLS_CUI:C0268532']",['DOID:9252']
4893,0111541,pigmented paravenous chorioretinal atrophy,"""An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in CRB1 on chromosome 1q31.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15623792, url:https\://www.ncbi.nlm.nih.gov/pubmed/3778279]",['DO_rare_slim'],"['MESH:C566801', 'OMIM:172870', 'ORDO:251295', 'SNOMEDCT_US_2022_09_01:723450004', 'UMLS_CUI:C1868310']",['DOID:5614']
4894,0111542,familial expansile osteolysis,"""A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in TNFRSF11A on chromosome 18q21.33."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10615125, url:https\://www.ncbi.nlm.nih.gov/pubmed/12362049, url:https\://www.ncbi.nlm.nih.gov/pubmed/17447113]",['DO_rare_slim'],"['GARD:9168', 'MESH:C536335', 'OMIM:174810', 'ORDO:85195', 'SNOMEDCT_US_2022_09_01:254153009', 'UMLS_CUI:C0432292']",['DOID:0080005']
4896,0111544,Guttmacher syndrome,"""A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in HOXA13 on chromosome 7p15.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11968094, url:https\://www.ncbi.nlm.nih.gov/pubmed/8484413]",['DO_rare_slim'],"['GARD:4470', 'MESH:C538278', 'OMIM:176305', 'ORDO:2957', 'SNOMEDCT_US_2022_09_01:722452004', 'UMLS_CUI:C1867801']",['DOID:225']
4897,0111545,familial male-limited precocious puberty,"""An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in LHCGR on chromosome 2p16.3."" [url:https\://ghr.nlm.nih.gov/condition/familial-male-limited-precocious-puberty, url:https\://www.ncbi.nlm.nih.gov/pubmed/7692306]",['DO_rare_slim'],"['GARD:4475', 'MESH:C536961', 'MESH:D011629', 'OMIM:176410', 'ORDO:3000', 'SNOMEDCT_US_2022_09_01:237818003', 'UMLS_CUI:C0342549', 'UMLS_CUI:C1504412']",['DOID:28']
4898,0111546,Currarino syndrome,"""A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/6789651, url:https\://www.ncbi.nlm.nih.gov/pubmed/9843207]",['DO_rare_slim'],"['GARD:1626', 'MESH:C536221', 'OMIM:176450', 'ORDO:1552', 'SNOMEDCT_US_2022_09_01:413936007', 'UMLS_CUI:C1531773']",['DOID:225']
4899,0111547,retinal arterial tortuosity,"""An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in COL4A1 on chromosome 13q34."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12745002, url:https\://www.ncbi.nlm.nih.gov/pubmed/25228067]",['DO_rare_slim'],"['OMIM:180000', 'ORDO:75326']",['DOID:0050828']
4900,0111548,ring dermoid of cornea,"""A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in PITX2 on chromosome 4q25."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15591271, url:https\://www.ncbi.nlm.nih.gov/pubmed/7387508]",['DO_rare_slim'],"['GARD:9696', 'MESH:C535684', 'OMIM:180550', 'ORDO:91481', 'SNOMEDCT_US_2022_09_01:723499000', 'UMLS_CUI:C1867155']",['DOID:10124']
4901,0111549,aplasia of lacrimal and salivary glands,"""A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in FGF10 on chromosome 5p12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15654336]",['DO_rare_slim'],"['ICD9CM:750.21', 'MESH:C562407', 'OMIM:180920', 'ORDO:86815', 'SNOMEDCT_US_2022_09_01:715656004', 'UMLS_CUI:C0158667']",['DOID:225']
4902,0111550,scalp-ear-nipple syndrome,"""An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in KCTD1 on chromosome 18q11.2."" [url:https\://ghr.nlm.nih.gov/condition/scalp-ear-nipple-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/23541344]",['DO_rare_slim'],"['GARD:159', 'MESH:C536623', 'OMIM:181270', 'ORDO:2036', 'SNOMEDCT_US_2022_09_01:721888002', 'UMLS_CUI:C1867020']",['DOID:2121']
4903,0111551,neurogenic scapuloperoneal syndrome Kaeser type,"""A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17439987]",['DO_rare_slim'],"['GARD:10312', 'MESH:C566695', 'OMIM:181400', 'ORDO:85146', 'SNOMEDCT_US_2022_09_01:1208615009', 'UMLS_CUI:C1867005']",['DOID:423']
4904,0111552,scapuloperoneal spinal muscular atrophy,"""A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1520078, url:https\://www.ncbi.nlm.nih.gov/pubmed/20037587]",['DO_rare_slim'],"['GARD:10314', 'ICD10CM:G12.1', 'MESH:D009134', 'OMIM:181405', 'ORDO:431255', 'SNOMEDCT_US_2022_09_01:230248006', 'UMLS_CUI:C0751335']",['DOID:231']
4905,0111553,spondyloepiphyseal dysplasia Maroteaux type,"""An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20503319, url:https\://www.ncbi.nlm.nih.gov/pubmed/2229114]",['DO_rare_slim'],"['GARD:994', 'OMIM:184095', 'ORDO:263482', 'SNOMEDCT_US_2022_09_01:719204007', 'UMLS_CUI:C3159322']",['DOID:0112280']
4906,0111554,spondylometaphyseal dysplasia Kozlowski type,"""A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19232556]",['DO_rare_slim'],"['GARD:3047', 'MESH:C535797', 'OMIM:184252', 'ORDO:93314', 'SNOMEDCT_US_2022_09_01:254077000', 'UMLS_CUI:C0265280']",['DOID:0112295']
4908,0111556,steatocystoma multiplex,"""A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in KRT17 on chromosome 17q21.2."" [url:https\://ghr.nlm.nih.gov/condition/steatocystoma-multiplex, url:https\://www.ncbi.nlm.nih.gov/pubmed/18098741, url:https\://www.ncbi.nlm.nih.gov/pubmed/9008238]",['DO_rare_slim'],"['GARD:5003', 'MESH:D062685', 'OMIM:184500', 'ORDO:841']",['DOID:9098']
4909,0111557,Charcot-Marie-Tooth disease type 2A2B,"""A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in MFN2 on chromosome 1p36.22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21715711]",['DO_rare_slim'],"['OMIM:617087', 'ORDO:90118']",['DOID:0050539']
4910,0111558,Charcot-Marie-Tooth disease type 2DD,"""A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in ATP1A1 on chromosome 1p13.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/29499166]",['DO_rare_slim'],"['OMIM:618036', 'ORDO:521414']",['DOID:0050539']
4912,0111560,Charcot-Marie-Tooth disease type 1G,"""A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in PMP2 on chromosome 8q21.13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26828946, url:https\://www.ncbi.nlm.nih.gov/pubmed/27009151]",['DO_rare_slim'],"['OMIM:618279', 'ORDO:476394']",['DOID:0050538']
4913,0111561,stiff skin syndrome,"""A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in FBN1 on chromosome 15q21.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20375004]",['DO_rare_slim'],"['GARD:5025', 'MESH:C566112', 'NCI:C118636', 'OMIM:184900', 'ORDO:2833', 'SNOMEDCT_US_2022_09_01:765187004', 'UMLS_CUI:C1861456']",['DOID:37']
4914,0111562,overhydrated hereditary stomatocytosis,"""A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in RHAG on chromosome 6p12.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18931342, url:https\://www.ncbi.nlm.nih.gov/pubmed/21849667]",['DO_rare_slim'],"['GARD:4183', 'OMIM:185000', 'ORDO:3203']",['DOID:2361']
4915,0111563,Sturge-Weber syndrome,"""A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in GNAQ on chromosome 9q21.2."" [url:https\://ghr.nlm.nih.gov/condition/sturge-weber-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15165630, url:https\://www.ncbi.nlm.nih.gov/pubmed/23656586]",['DO_rare_slim'],"['GARD:7706', 'ICD10CM:Q85.89', 'MESH:D013341', 'NCI:C3391', 'OMIM:185300', 'ORDO:3205', 'SNOMEDCT_US_2022_09_01:157030004', 'UMLS_CUI:C0038505']",['DOID:178']
4916,0111564,hypoplastic or aplastic tibia with polydactyly,"""A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of LMBR1 on chromosome 7q36.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19847792]",['DO_rare_slim'],"['GARD:8309', 'MESH:C535564', 'OMIM:188740', 'ORDO:3332', 'ORDO:988', 'UMLS_CUI:C1861099']",['DOID:225']
4917,0111565,trichodontoosseous syndrome,"""A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in DLX3 on chromosome 17q21.33."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22671030]",['DO_rare_slim'],"['GARD:7799', 'MESH:C536549', 'OMIM:190320', 'ORDO:3352', 'SNOMEDCT_US_2022_09_01:38993008', 'UMLS_CUI:C0265333']",['DOID:225']
4918,0111566,familial isolated trichomegaly,"""An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compund heterozygous mutation in FGF5 on chromosome 4q21.21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24989505]",['DO_rare_slim'],"['OMIM:190330', 'ORDO:411788']",['DOID:530']
4919,0111567,retinal vasculopathy with cerebral leukodystrophy,"""A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17660820]",['DO_rare_slim'],"['GARD:1217', 'MESH:C566007', 'OMIM:192315', 'ORDO:247691', 'SNOMEDCT_US_2022_09_01:783787000', 'UMLS_CUI:C1860518']",['DOID:178']
4920,0111568,congenital vertical talus,"""A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in HOXD10 on chromosome 2q31.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15368082]",['DO_rare_slim'],"['GARD:5488', 'MEDDRA:10066242', 'MESH:D005413', 'OMIM:192950', 'ORDO:178382', 'SNOMEDCT_US_2022_09_01:205359003', 'UMLS_CUI:C0240912']",['DOID:65']
4921,0111569,autosomal dominant vitreoretinochoroidopathy,"""A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in BEST1 on chromosome 11q12.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15452077, url:https\://www.ncbi.nlm.nih.gov/pubmed/7065944]",['DO_rare_slim'],"['GARD:5507', 'MESH:C536352', 'OMIM:193220', 'ORDO:3086', 'SNOMEDCT_US_2022_09_01:711162004', 'UMLS_CUI:C3888099']",['DOID:8500']
4922,0111570,snowflake vitreoretinal degeneration,"""An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18179896, url:https\://www.ncbi.nlm.nih.gov/pubmed/4812083]",['DO_rare_slim'],"['GARD:9706', 'MESH:C536677', 'OMIM:193230', 'ORDO:91496', 'UMLS_CUI:C1860405']",['DOID:9799']
4923,0111571,Weyers acrofacial dysostosis,"""An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2."" [url:https\://ghr.nlm.nih.gov/condition/weyers-acrofacial-dysostosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/10700184, url:https\://www.ncbi.nlm.nih.gov/pubmed/16404586, url:https\://www.ncbi.nlm.nih.gov/pubmed/9399901]",['DO_rare_slim'],"['GARD:497', 'MESH:C536695', 'OMIM:193530', 'ORDO:952', 'SNOMEDCT_US_2022_09_01:277807007', 'UMLS_CUI:C0457013']",['DOID:0060379']
4924,0111572,familial woolly hair syndrome,"""A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19365138]",['DO_rare_slim'],"['GARD:5597', 'ORDO:170']",['DOID:421']
4927,0111575,dehydrated hereditary stomatocytosis,"""A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22529292]",['DO_rare_slim'],"['GARD:5623', 'MESH:C536764', 'ORDO:3202', 'SNOMEDCT_US_2022_09_01:87994004', 'UMLS_CUI:C0272051']",['DOID:583']
4930,0111578,Gillespie syndrome,"""A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in ITPR1 on chromosome 3p26.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27108797, url:https\://www.ncbi.nlm.nih.gov/pubmed/27108798]",['DO_rare_slim'],"['GARD:13', 'MESH:C536370', 'OMIM:206700', 'ORDO:1065', 'SNOMEDCT_US_2022_09_01:253176002', 'UMLS_CUI:C0431401']",['DOID:225']
4932,0111580,Behr syndrome,"""A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in OPA1 on chromosome 3q29."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/6747661]",['DO_rare_slim'],"['GARD:849', 'MESH:C537669', 'NCI:C177251', 'OMIM:210000', 'SNOMEDCT_US_2022_09_01:66988006', 'UMLS_CUI:C0221061']",['DOID:863']
4933,0111581,C syndrome,"""A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in CD96 on chromosome 3q13.1-q13.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17847009]",['DO_rare_slim'],"['GARD:5978', 'MESH:C537418', 'OMIM:211750', 'ORDO:1308', 'SNOMEDCT_US_2022_09_01:715409005', 'UMLS_CUI:C0796095']",['DOID:225']
4934,0111582,hereditary arterial and articular multiple calcification syndrome,"""A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in NT5E on chromosome 6q14.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21288095]",['DO_rare_slim'],"['GARD:10762', 'OMIM:211800', 'ORDO:289601']",['DOID:225']
4936,0111584,dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome,"""A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in LMNA on chromosome 1q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12927431, url:https\://www.ncbi.nlm.nih.gov/pubmed/19283854]",['DO_rare_slim'],"['GARD:3373', 'MESH:C535580', 'MESH:C535703', 'NCI:C174217', 'OMIM:212112', 'ORDO:2229', 'SNOMEDCT_US_2022_09_01:719451006', 'UMLS_CUI:C0796031', 'UMLS_CUI:C0796083']",['DOID:225']
4937,0111585,carnitine-acylcarnitine translocase deficiency,"""A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A20 on chromosome 3p21.31."" [url:https\://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/15363639, url:https\://www.ncbi.nlm.nih.gov/pubmed/9399886]",['DO_rare_slim'],"['GARD:1123', 'MESH:C562812', 'NCI:C133086', 'OMIM:212138', 'ORDO:159', 'SNOMEDCT_US_2022_09_01:238003000', 'UMLS_CUI:C0342791']",['DOID:3146']
4938,0111586,Martsolf syndrome,"""A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in RAB3GAP2 on chromosome 1q41."" [url:https\://ghr.nlm.nih.gov/condition/rab18-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/16532399, url:https\://www.ncbi.nlm.nih.gov/pubmed/677168]",['DO_rare_slim'],"['GARD:3406', 'MESH:C536028', 'OMIM:212720', 'ORDO:1387', 'SNOMEDCT_US_2022_09_01:722380003', 'UMLS_CUI:C0796037']",['DOID:225']
4939,0111587,Gordon Holmes syndrome,"""An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in RNF216 on chromosome 7p22.1."" [url:https\://ghr.nlm.nih.gov/condition/gordon-holmes-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/23656588, url:https\://www.ncbi.nlm.nih.gov/pubmed/25841028]",['DO_rare_slim'],"['MESH:C565870', 'OMIM:212840', 'ORDO:1173', 'SNOMEDCT_US_2022_09_01:230240004', 'UMLS_CUI:C1859305']",['DOID:655']
4940,0111588,Greenberg dysplasia,"""An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12."" [url:https\://ghr.nlm.nih.gov/condition/greenberg-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/18382993]",['DO_rare_slim'],"['GARD:8754', 'MESH:C535858', 'OMIM:215140', 'ORDO:1426', 'SNOMEDCT_US_2022_09_01:389261002', 'UMLS_CUI:C2931048']",['DOID:655']
4941,0111589,COACH syndrome,"""A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19574260]",['DO_rare_slim'],"['GARD:1410', 'MESH:C536430', 'OMIM:216360', 'ORDO:1454', 'SNOMEDCT_US_2022_09_01:721847002', 'UMLS_CUI:C1857662']",['DOID:225']
4942,0111590,Cohen syndrome,"""A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in VPS13B on chromosome 8q22.2."" [url:https\://ghr.nlm.nih.gov/condition/cohen-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/12730828, url:https\://www.ncbi.nlm.nih.gov/pubmed/24334764]",['DO_rare_slim'],"['GARD:6126', 'MEDDRA:10049066', 'MESH:C536438', 'OMIM:216550', 'ORDO:193', 'SNOMEDCT_US_2022_09_01:56604005', 'UMLS_CUI:C0265223']",['DOID:225']
4943,0111591,"congenital heart defects, hamartomas of tongue, and polysyndactyly","""A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in WDPCP on chromosome 2p15."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1516223, url:https\://www.ncbi.nlm.nih.gov/pubmed/25427950]",['DO_rare_slim'],"['GARD:4166', 'MESH:C535849', 'OMIM:217085', 'ORDO:1338', 'SNOMEDCT_US_2022_09_01:783738002', 'UMLS_CUI:C2931046']",['DOID:225']
4944,0111592,plasminogen deficiency type I,"""A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26."" [url:https\://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/12850227, url:https\://www.ncbi.nlm.nih.gov/pubmed/16849641, url:https\://www.ncbi.nlm.nih.gov/pubmed/9242524]",['DO_rare_slim'],"['GARD:4380', 'ICD10CM:E88.02', 'MESH:C566897', 'MESH:C580017', 'OMIM:217090', 'ORDO:722', 'SNOMEDCT_US_2022_09_01:95840007', 'SNOMEDCT_US_2022_09_01:95844003', 'UMLS_CUI:C0398621', 'UMLS_CUI:C1968804']",['DOID:225']
4945,0111593,distal arthrogryposis type 10,"""A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17103435]",['DO_rare_slim'],"['MESH:C566069', 'OMIM:187370', 'ORDO:251515']",['DOID:0050646']
4946,0111594,distal arthrogryposis type 5D,"""A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in ECEL1 on chromosome 2q37.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23261301]",['DO_rare_slim'],"['OMIM:615065', 'ORDO:329457', 'SNOMEDCT_US_2021_09_01:773396009']",['DOID:0050646']
4947,0111595,congenital contractural arachnodactyly,"""A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in FBN2 on chromosome 5q23.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/4552107, url:https\://www.ncbi.nlm.nih.gov/pubmed/9106527, url:https\://www.ncbi.nlm.nih.gov/pubmed/9714438]",['DO_rare_slim'],"['MESH:C536211', 'NCI:C129865', 'OMIM:121050', 'ORDO:115', 'SNOMEDCT_US_2022_09_01:205821003', 'UMLS_CUI:C0220668']",['DOID:0050646']
4948,0111596,distal arthrogryposis type 1,"""A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies."" [url:https\://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1, url:https\://www.ncbi.nlm.nih.gov/pubmed/19571066, url:https\://www.ncbi.nlm.nih.gov/pubmed/7039311, url:https\://www.ncbi.nlm.nih.gov/pubmed/8923936]",['DO_rare_slim'],"['GARD:787', 'MESH:C565097', 'OMIM:126050', 'ORDO:1146', 'SNOMEDCT_US_2021_09_01:715314008']",['DOID:0050646']
4951,0111599,distal arthrogryposis type 2B,"""A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19571066, url:https\://www.ncbi.nlm.nih.gov/pubmed/9012416]",['DO_rare_slim'],"['MESH:C538400', 'ORDO:1147', 'SNOMEDCT_US_2021_09_01:715216008']",['DOID:0050646']
4955,0111603,distal arthrogryposis type 7,"""A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in MYH8 on chromosome 17p13.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15282353]",['DO_rare_slim'],"['GARD:2621', 'MESH:C535857', 'OMIM:121070', 'OMIM:158300', 'ORDO:3377']",['DOID:0050646']
4956,0111604,Freeman-Sheldon syndrome,"""A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures."" [url:https\://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/19571066, url:https\://www.ncbi.nlm.nih.gov/pubmed/21032118]",['DO_rare_slim'],"['ICD10CM:Q87.0', 'MESH:C535483', 'NCI:C98931', 'OMIM:193700', 'ORDO:2053', 'SNOMEDCT_US_2021_09_01:52616002']",['DOID:0050646']
4958,0111606,autosomal recessive Whistling face syndrome,"""A Freeman-Sheldon syndrome that has autosomal recessive inheritance."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20964128]",['DO_rare_slim'],"['GARD:100024', 'OMIM:277720']",['DOID:0111604']
4959,0111607,distal arthrogryposis type 3,"""A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in PIEZO2 on chromosome 18p11.22-p11.21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19571066, url:https\://www.ncbi.nlm.nih.gov/pubmed/24726473]",['DO_rare_slim'],"['GARD:2553', 'MESH:C537288', 'OMIM:114300', 'ORDO:376', 'SNOMEDCT_US_2021_09_01:897570002']",['DOID:0050646']
4960,0111608,distal arthrogryposis type 5,"""A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in PIEZO2 on chromosome 18p11.22-p11.21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19571066, url:https\://www.ncbi.nlm.nih.gov/pubmed/23487782]",['DO_rare_slim'],"['GARD:4047', 'MESH:C537737', 'OMIM:108145', 'SNOMEDCT_US_2021_09_01:715217004']",['DOID:0050646']
4961,0111609,distal arthrogryposis type 6,"""A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19571066, url:https\://www.ncbi.nlm.nih.gov/pubmed/5539065]",['DO_rare_slim'],"['GARD:784', 'MESH:C535386', 'OMIM:108200', 'ORDO:1144', 'SNOMEDCT_US_2021_09_01:720515009']",['DOID:0050646']
4962,0111610,distal arthrogryposis type 4,"""A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19571066, url:https\://www.ncbi.nlm.nih.gov/pubmed/7039311]",['DO_rare_slim'],"['MESH:C563791', 'OMIM:609128', 'ORDO:65720', 'SNOMEDCT_US_2021_09_01:715575001']",['DOID:0050646']
4963,0111611,autosomal recessive spinocerebellar ataxia 4,"""An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in VPS13D on chromosome 1p36.22-p36.21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/29604224]",['DO_rare_slim'],"['GARD:4952', 'MESH:C537310', 'OMIM:607317', 'ORDO:95434', 'UMLS_CUI:C1846492']",['DOID:0050950']
4964,0111612,autosomal recessive spinocerebellar ataxia 3,"""An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11175288, url:https\://www.ncbi.nlm.nih.gov/pubmed/4154794, url:https\://www.ncbi.nlm.nih.gov/pubmed/4434170]",['DO_rare_slim'],"['GARD:9971', 'MESH:C537309', 'OMIM:271250', 'ORDO:95433', 'SNOMEDCT_US_2022_09_01:1204415006', 'UMLS_CUI:C1849094']",['DOID:0050950']
4965,0111613,autosomal recessive spinocerebellar ataxia 23,"""An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in TDP2 on chromosome 6p22.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24658003]",['DO_rare_slim'],"['OMIM:616949', 'ORDO:404493']",['DOID:0050950']
4969,0111617,autosomal recessive spinocerebellar ataxia 6,"""An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12811539, url:https\://www.ncbi.nlm.nih.gov/pubmed/4003033]",['DO_rare_slim'],"['GARD:4954', 'MESH:C537312', 'OMIM:608029', 'ORDO:284332', 'SNOMEDCT_US_2022_09_01:785300001', 'UMLS_CUI:C1842676']",['DOID:0050950']
4970,0111618,autosomal recessive spinocerebellar ataxia 8,"""An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17159980, url:https\://www.ncbi.nlm.nih.gov/pubmed/27086870]",['DO_rare_slim'],"['GARD:12234', 'MESH:C565188', 'OMIM:610743', 'ORDO:88644', 'UMLS_CUI:C1853116']",['DOID:0050950']
4971,0111619,combined D-2- and L-2-hydroxyglutaric aciduria,"""A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A1 on chromosome 22q11.21."" [url:https\://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria, url:https\://www.ncbi.nlm.nih.gov/pubmed/10963100, url:https\://www.ncbi.nlm.nih.gov/pubmed/23561848]",['DO_rare_slim'],"['OMIM:615182', 'ORDO:356978', 'SNOMEDCT_US_2021_09_01:713401006', 'UMLS_CUI:C5574940']",['DOID:0050573']
4972,0111620,corneal dystrophy-perceptive deafness syndrome,"""A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in SLC4A11 on chromosome 20p13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17220209, url:https\://www.ncbi.nlm.nih.gov/pubmed/5312820]",['DO_rare_slim'],"['GARD:1529', 'MESH:C535473', 'OMIM:217400', 'ORDO:1490', 'SNOMEDCT_US_2022_09_01:720749004', 'UMLS_CUI:C1857572']",['DOID:225']
4973,0111621,Temtamy syndrome,"""A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in C12ORF57 on chromosome 12p13.31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23453666]",['DO_rare_slim'],"['GARD:5688', 'MESH:C536959', 'NCI:C148371', 'OMIM:218340', 'ORDO:1777', 'SNOMEDCT_US_2022_09_01:719947004', 'UMLS_CUI:C1857512']",['DOID:225']
4974,0111622,ACTH-independent macronodular adrenal hyperplasia,"""A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol."" [url:https\://ghr.nlm.nih.gov/condition/primary-macronodular-adrenal-hyperplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/16215323]",['DO_rare_slim'],"['GARD:10824', 'ORDO:189427', 'SNOMEDCT_US_2022_09_01:720459002', 'UMLS_CUI:C2062388']",['DOID:446']
4977,0111625,ventriculomegaly - cystic kidney disease,"""A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in CRB2 on chromosome 9q33.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2478019, url:https\://www.ncbi.nlm.nih.gov/pubmed/25557780]",['DO_rare_slim'],"['MESH:C565657', 'OMIM:219730', 'ORDO:443988', 'SNOMEDCT_US_2022_09_01:1216942009', 'UMLS_CUI:C1857423']",['DOID:225']
4978,0111626,D-glyceric aciduria,"""An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in GLYCTK on chromosome 3p21.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20949620]",['DO_rare_slim'],"['GARD:234', 'ICD10CM:E72.59', 'MESH:C535767', 'OMIM:220120', 'ORDO:941', 'UMLS_CUI:C1291386']",['DOID:655']
4979,0111627,DOORS syndrome,"""A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3."" [url:https\://ghr.nlm.nih.gov/condition/doors-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/1132883, url:https\://www.ncbi.nlm.nih.gov/pubmed/24291220]",['DO_rare_slim'],"['GARD:1685', 'MESH:C538204', 'OMIM:220500', 'ORDO:79500', 'UMLS_CUI:C0795927']",['DOID:225']
4980,0111628,high myopia-sensorineural deafness syndrome,"""A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in SLITRK6 on chromosome 13q31.1."" [url:https\://ghr.nlm.nih.gov/condition/deafness-and-myopia-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/23543054]",['DO_rare_slim'],"['GARD:12844', 'OMIM:221200', 'ORDO:363396']",['DOID:225']
4981,0111629,dihydropyrimidinase deficiency,"""A pyrimidine metabolic disorder characterized by a defect in the degredation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in DPYS on chromosome 8q22.3."" [url:https\://ghr.nlm.nih.gov/condition/dihydropyrimidinase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/29054612]",['DO_rare_slim'],"['GARD:12347', 'MESH:C562815', 'OMIM:222748', 'ORDO:38874', 'SNOMEDCT_US_2022_09_01:238014002', 'UMLS_CUI:C0342803']",['DOID:0050832']
4982,0111630,familial erythrocytosis 8,"""A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in BPGM on chromosome 7q33."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2542247]",['DO_rare_slim'],"['OMIM:222800', 'ORDO:714']",['DOID:10780']
4985,0111633,congenital sucrase-isomaltase deficiency,"""A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1."" [url:https\://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/3925457]",['DO_rare_slim'],"['GARD:7710', 'ICD10CM:E74.31', 'MEDDRA:10066387', 'MESH:C538139', 'NCI:C128190', 'OMIM:222900', 'ORDO:35122', 'SNOMEDCT_US_2022_09_01:78373000', 'UMLS_CUI:C1283620']",['DOID:2978']
4997,0111645,Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome,"""An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D24 on chromosome 16p13.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/31257402]",['DO_rare_slim'],"['OMIM:608105', 'ORDO:163727']",['DOID:0050703']
4998,0111646,congenital lactase deficiency,"""A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3."" [url:https\://ghr.nlm.nih.gov/condition/lactose-intolerance, url:https\://www.ncbi.nlm.nih.gov/pubmed/16400612, url:https\://www.ncbi.nlm.nih.gov/pubmed/5419986]",['DO_rare_slim'],"['ICD10CM:E73.0', 'MESH:C562600', 'OMIM:223000', 'ORDO:53690', 'SNOMEDCT_US_2022_09_01:5388008', 'UMLS_CUI:C0268179']",['DOID:2978']
4999,0111647,Schopf-Schulz-Passarge syndrome,"""An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in WNT10A on chromosome 2q35."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19559398, url:https\://www.ncbi.nlm.nih.gov/pubmed/2947556]",['DO_rare_slim'],"['MESH:C565607', 'OMIM:224750', 'ORDO:50944', 'SNOMEDCT_US_2022_09_01:700062000', 'UMLS_CUI:C1857069']",['DOID:2121']
5001,0111649,"ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome","""An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CDH3 on chromosome 16q22.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15805154, url:https\://www.ncbi.nlm.nih.gov/pubmed/6302256]",['DO_rare_slim'],"['GARD:2078', 'OMIM:225280', 'ORDO:1897']",['DOID:2121']
5007,0111655,pure hair and nail ectodermal dysplasia,"""An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23063621]",['DO_rare_slim'],"['MESH:C566592', 'ORDO:69084', 'UMLS_CUI:C1865951']",['DOID:2121']
5013,0111661,ectodermal dysplasia 8,"""An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18184143, url:https\://www.ncbi.nlm.nih.gov/pubmed/856958]",['DO_rare_slim'],"['OMIM:602401', 'ORDO:99672', 'SNOMEDCT_US_2022_09_01:239020008', 'UMLS_CUI:C0406715']",['DOID:2121']
5016,0111664,ectodermal dysplasia 1,"""A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8434608]",['DO_rare_slim'],"['MESH:D053358', 'NCI:C84562', 'OMIM:305100', 'ORDO:181', 'SNOMEDCT_US_2022_09_01:239007005', 'UMLS_CUI:C0162359']",['DOID:14793']
5018,0111666,proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome,"""A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in FLVCR2 on chromosome 14q24.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20206334]",['DO_rare_slim'],"['MEDDRA:10071718', 'MESH:C565593', 'OMIM:225790', 'ORDO:221126', 'UMLS_CUI:C1856972']",['DOID:225']
5019,0111667,enterokinase deficiency,"""An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in TMPRSS15 on chromosome 21q21.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11719902]",['DO_rare_slim'],"['MESH:C562649', 'OMIM:226200', 'ORDO:168601', 'SNOMEDCT_US_2022_09_01:190952002', 'UMLS_CUI:C0268416']",['DOID:5295']
5020,0111668,Kohlschutter-Tonz syndrome,"""A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22424600, url:https\://www.ncbi.nlm.nih.gov/pubmed/22482807]",['DO_rare_slim'],"['GARD:3128', 'MESH:C537213', 'OMIM:226750', 'ORDO:1946', 'SNOMEDCT_US_2022_09_01:109478007', 'UMLS_CUI:C0406740']",['DOID:225']
5021,0111669,hyaline fibromatosis syndrome,"""A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in ANTXR2 on chromosome 4q21.21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22383261]",['DO_rare_slim'],"['MESH:D057770', 'NCI:C98297', 'OMIM:228600', 'ORDO:498474', 'SNOMEDCT_US_2022_09_01:238861002', 'UMLS_CUI:C2745948']",['DOID:65']
5022,0111670,primary hyperoxaluria type 1,"""A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumuation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in AGXT on chromosome 2q37.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19479957, url:https\://www.ncbi.nlm.nih.gov/pubmed/2039493]",['DO_rare_slim'],"['GARD:2835', 'MESH:C536414', 'NCI:C123212', 'OMIM:259900', 'ORDO:93598', 'SNOMEDCT_US_2022_09_01:65520001', 'UMLS_CUI:C0268164']",['DOID:2977']
5023,0111671,primary hyperoxaluria type 2,"""A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in GRHPR on chromosome 9p13.2."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK2692/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10484776]",['DO_rare_slim'],"['GARD:2836', 'MESH:C536415', 'NCI:C123213', 'OMIM:260000', 'ORDO:93599', 'SNOMEDCT_US_2022_09_01:40951006', 'UMLS_CUI:C0268165']",['DOID:2977']
5024,0111672,primary hyperoxaluria type 3,"""A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in HOGA1 on chromosome 10q24.2."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK316514/, url:https\://www.ncbi.nlm.nih.gov/pubmed/26340091]",['DO_rare_slim'],"['GARD:10738', 'NCI:C123214', 'OMIM:613616', 'ORDO:93600', 'SNOMEDCT_US_2022_09_01:734990008', 'UMLS_CUI:C3150878']",['DOID:2977']
5025,0111673,Saul-Wilson syndrome,"""A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in COG4 on chromosome 16q22.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30290151]",['DO_rare_slim'],"['OMIM:618150', 'ORDO:85172', 'SNOMEDCT_US_2022_09_01:389197004', 'UMLS_CUI:C1300285']",['DOID:0080006']
5028,0111676,high molecular weight kininogen deficiency,"""A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in KNG1 on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by KNG1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12576314, url:https\://www.ncbi.nlm.nih.gov/pubmed/2989293]",['DO_rare_slim'],"['GARD:2684', 'MESH:C537060', 'NCI:C98946', 'OMIM:228960', 'ORDO:483', 'SNOMEDCT_US_2022_09_01:27312002', 'UMLS_CUI:C0272340']",['DOID:1247']
5029,0111677,familial benign fleck retina,"""A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in PLA2G5 on chromosome 1p36.13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22137173]",['DO_rare_slim'],"['MESH:C565564', 'OMIM:228980', 'ORDO:363989', 'SNOMEDCT_US_2022_09_01:770434009', 'UMLS_CUI:C1856718']",['DOID:5679']
5030,0111678,hereditary folate malabsorption,"""A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in SLC46A1 on chromosome 17q11.2."" [url:https\://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption, url:https\://www.ncbi.nlm.nih.gov/pubmed/17129779]",['DO_rare_slim'],"['GARD:12983', 'MESH:C562799', 'NCI:C156424', 'OMIM:229050', 'ORDO:90045', 'SNOMEDCT_US_2022_09_01:62578003', 'UMLS_CUI:C0342705']",['DOID:0050718']
5031,0111679,glutamate formiminotransferase deficiency,"""A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in FTCD on chromosome 21q22.3."" [url:https\://ghr.nlm.nih.gov/condition/glutamate-formiminotransferase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/12815595]",['DO_rare_slim'],"['GARD:9279', 'MESH:C537425', 'OMIM:229100', 'ORDO:51208', 'SNOMEDCT_US_2022_09_01:59761008', 'UMLS_CUI:C0268609']",['DOID:0050718']
5032,0111680,essential fructosuria,"""A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars  that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7833921]",['DO_rare_slim'],"['ICD10CM:E74.11', 'MEDDRA:10015487', 'MESH:C538068', 'OMIM:229800', 'ORDO:2056', 'SNOMEDCT_US_2022_09_01:124300009', 'UMLS_CUI:C0268160']",['DOID:2978']
5033,0111681,glutamate-cysteine ligase deficiency,"""An amino acid metabolic disorder characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in GCLC on chromosome 6p12.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10515893, url:https\://www.ncbi.nlm.nih.gov/pubmed/5058793]",['DO_rare_slim'],"['MESH:C565557', 'OMIM:230450', 'ORDO:33574', 'UMLS_CUI:C1856603']",['DOID:9252']
5034,0111682,diffuse cystic renal dysplasia,"""A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in BICC1 on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21922595, url:https\://www.ncbi.nlm.nih.gov/pubmed/8725780]",['DO_rare_slim'],"['GARD:4658', 'OMIM:601331']",['DOID:2975']
5035,0111683,neurofibromatosis-Noonan syndrome,"""A syndrome characterized by neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness, that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12707950, url:https\://www.ncbi.nlm.nih.gov/pubmed/2411134]",['DO_rare_slim'],"['GARD:372', 'MESH:C537393', 'OMIM:601321', 'ORDO:638', 'SNOMEDCT_US_2022_09_01:715344006', 'UMLS_CUI:C2931482']",['DOID:225']
5036,0111684,hereditary mixed polyposis syndrome,"""An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8644741]",['DO_rare_slim'],['ORDO:157794'],['DOID:5295']
5039,0111687,Potocki-Shaffer syndrome,"""A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2."" [url:https\://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/20140962, url:https\://www.ncbi.nlm.nih.gov/pubmed/8644736]",['DO_rare_slim'],"['GARD:9762', 'MESH:C538356', 'NCI:C75456', 'OMIM:601224', 'ORDO:52022', 'SNOMEDCT_US_2022_09_01:702346005', 'UMLS_CUI:C1832588']",['DOID:225']
5041,0111689,familial adult myoclonic epilepsy,"""An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20548044]",['DO_rare_slim'],"['OMIM:PS601068', 'ORDO:86814', 'SNOMEDCT_US_2022_09_01:717225001', 'UMLS_CUI:C4273988']",['DOID:0050705']
5050,0111698,proprotein convertase 1/3 deficiency,"""A syndrome characterized by severe childhood obesity, hypoadrenalism,  hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in PCSK1 on chromosome 5q15."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14617756, url:https\://www.ncbi.nlm.nih.gov/pubmed/7477119, url:https\://www.ncbi.nlm.nih.gov/pubmed/9207799]",['DO_rare_slim'],"['MESH:C563423', 'OMIM:600955', 'ORDO:71528', 'UMLS_CUI:C1833053']",['DOID:225']
5051,0111699,Van den Ende-Gupta syndrome,"""A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in SCARF2 on chromosome 22q11.21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23808541]",['DO_rare_slim'],"['GARD:3382', 'MESH:C535909', 'OMIM:600920', 'ORDO:2460', 'SNOMEDCT_US_2022_09_01:719845008', 'UMLS_CUI:C1833136']",['DOID:225']
5052,0111700,ankyrin-B-related cardiac arrhythmia,"""A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in ANK2 on chromosome 4q25-q26."" [url:https\://ghr.nlm.nih.gov/condition/ankyrin-b-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15178757, url:https\://www.ncbi.nlm.nih.gov/pubmed/17242276]",['DO_rare_slim'],"['GARD:13294', 'OMIM:600919']",['DOID:114']
5053,0111701,long QT syndrome 4,"""A long QT syndrome that has_material_basis_in heterozygous mutation in ANK2 on chromosome 4q25-q26."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7485162]",['DO_rare_slim'],"['GARD:10432', 'MESH:C563428']",['DOID:2843']
5054,0111702,loose anagen hair syndrome,"""An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1705765, url:https\://www.ncbi.nlm.nih.gov/pubmed/2915059]",['DO_rare_slim'],"['GARD:3287', 'MESH:D058247', 'OMIM:600628', 'ORDO:168', 'SNOMEDCT_US_2022_09_01:238735005', 'UMLS_CUI:C0406468']",['DOID:987']
5055,0111703,familial hypertryptophanemia,"""An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in TDO2 on chromosome 4q32.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28285122, url:https\://www.ncbi.nlm.nih.gov/pubmed/7628119]",['DO_rare_slim'],"['GARD:2871', 'MESH:C563467', 'OMIM:600627', 'ORDO:2224', 'SNOMEDCT_US_2022_09_01:721838005', 'UMLS_CUI:C2931837']",['DOID:9252']
5056,0111704,chromosome 2q37 deletion syndrome,"""A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2."" [url:https\://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/23188045, url:https\://www.ncbi.nlm.nih.gov/pubmed/24715439, url:https\://www.ncbi.nlm.nih.gov/pubmed/25402011]",['DO_rare_slim'],"['MESH:C538317', 'NCI:C129021', 'OMIM:600430', 'ORDO:1001', 'SNOMEDCT_US_2022_09_01:702357000', 'UMLS_CUI:C2931817']",['DOID:0060388']
5057,0111705,oculoectodermal syndrome,"""An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in KRAS on chromosome 12p12.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25808193, url:https\://www.ncbi.nlm.nih.gov/pubmed/26970110]",['DO_rare_slim'],"['GARD:10366', 'MESH:C563969', 'OMIM:600268', 'ORDO:3339', 'SNOMEDCT_US_2022_09_01:723554006', 'UMLS_CUI:C1838329']",['DOID:2121']
5059,0111707,Bothnian type palmoplantar keratoderma,"""A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in AQP5 on chromosome 12q13.12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23830519, url:https\://www.ncbi.nlm.nih.gov/pubmed/7531539]",['DO_rare_slim'],"['GARD:1862', 'OMIM:600231']",['DOID:0050428']
5060,0111708,focal nonepidermolytic palmoplantar keratoderma,"""A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction."" [url:https\://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Focal, url:https\://www.ncbi.nlm.nih.gov/pubmed/21176769]",['DO_rare_slim'],"['MESH:C538682', 'ORDO:448264', 'UMLS_CUI:C2931923']",['DOID:0050428']
5062,0111710,focal or diffuse nonepidermolytic palmoplantar keratoderma,"""A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in KRT6C on chromosome 12q13.13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19609311, url:https\://www.ncbi.nlm.nih.gov/pubmed/21801157]",['DO_rare_slim'],"['OMIM:615735', 'ORDO:402003']",['DOID:0050428']
5064,0111712,Kagami-Ogata syndrome,"""A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10951461, url:https\://www.ncbi.nlm.nih.gov/pubmed/12938037]",['DO_rare_slim'],"['OMIM:608149', 'ORDO:254519']",['DOID:225']
5065,0111713,Temple syndrome,"""A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18454453, url:https\://www.ncbi.nlm.nih.gov/pubmed/24891339]",['DO_rare_slim'],"['NCI:C120409', 'OMIM:616222', 'ORDO:254516', 'SNOMEDCT_US_2022_09_01:778012003', 'UMLS_CUI:C4015558']",['DOID:225']
5066,0111714,Mulchandani-Bhoj-Conlin syndrome,"""A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26248010]",['DO_rare_slim'],"['OMIM:617352', 'ORDO:96186', 'SNOMEDCT_US_2022_09_01:715735007', 'UMLS_CUI:C4275029']",['DOID:225']
5067,0111715,Schaaf-Yang syndrome,"""A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27195816]",['DO_rare_slim'],"['GARD:13316', 'OMIM:615547', 'ORDO:398069', 'SNOMEDCT_US_2022_09_01:770680004', 'UMLS_CUI:C3809877']",['DOID:225']
5068,0111716,cryptophthalmia,"""A physical disorder characterized by ocular dysplasia with eyelid malformation."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30802441]",['DO_rare_slim'],"['ICD10CM:Q11.2', 'ICD9CM:743.06', 'NCI:C124520', 'ORDO:98562', 'SNOMEDCT_US_2022_09_01:62589005', 'UMLS_CUI:C0311249']",['DOID:0080015']
5069,0111717,isolated cryptophthalmia,"""A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16352480, url:https\://www.ncbi.nlm.nih.gov/pubmed/29688405, url:https\://www.ncbi.nlm.nih.gov/pubmed/31366340]",['DO_rare_slim'],"['MESH:C565138', 'OMIM:123570', 'ORDO:91396', 'UMLS_CUI:C1852453']",['DOID:0111716']
5070,0111718,partial cryptophthalmia,"""An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/31366340]",['DO_rare_slim'],['ORDO:98950'],['DOID:0111717']
5071,0111719,complete cryptophthalmia,"""An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/31366340]",['DO_rare_slim'],['ORDO:98949'],['DOID:0111717']
5072,0111720,congenital symblepharon,"""An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16352480, url:https\://www.ncbi.nlm.nih.gov/pubmed/31366340]",['DO_rare_slim'],['ORDO:98948'],['DOID:0111717']
5073,0111721,amelogenesis imperfecta type 3,"""An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30506946]",['DO_rare_slim'],"['MESH:C562880', 'ORDO:100032', 'SNOMEDCT_US_2022_09_01:109471001', 'UMLS_CUI:C0399376']",['DOID:2187']
5075,0111723,Jacobsen Syndrome,"""A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/4134631]",['DO_rare_slim'],"['GARD:307', 'MESH:D054868', 'OMIM:147791', 'ORDO:2308']",['DOID:0060388']
5076,0111724,geleophysic dysplasia,"""A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis."" [url:https\://ghr.nlm.nih.gov/condition/geleophysic-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301776, url:https\://www.ncbi.nlm.nih.gov/pubmed/31516831]",['DO_rare_slim'],"['GARD:2449', 'MEDDRA:10063361', 'OMIM:PS231050', 'ORDO:2623', 'SNOMEDCT_US_2022_09_01:28557005', 'UMLS_CUI:C3489726']",['DOID:0080006']
5080,0111728,familial episodic pain syndrome,"""A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24813307, url:https\://www.ncbi.nlm.nih.gov/pubmed/28298626]",['DO_rare_slim'],"['GARD:12684', 'OMIM:PS615040', 'ORDO:391384']",['DOID:870']
5081,0111729,familial episodic pain syndrome 1,"""A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20547126]",['DO_rare_slim'],"['OMIM:615040', 'ORDO:391389']",['DOID:0111728']
5083,0111731,familial episodic pain syndrome 3,"""A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24207120]",['DO_rare_slim'],"['NCI:C125390', 'OMIM:615552', 'ORDO:391392']",['DOID:0111728']
5084,0111732,Eiken syndrome,"""A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in PTHR1 on chromosome 3p21.31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/6734674]",['DO_rare_slim'],"['MESH:C564010', 'OMIM:600002', 'ORDO:79106', 'SNOMEDCT_US_2022_09_01:720863002', 'UMLS_CUI:C1838779']",['DOID:0080006']
5089,0111737,X-linked deafness 2,"""An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20412083, url:https\://www.ncbi.nlm.nih.gov/pubmed/7839145]",['DO_rare_slim'],"['OMIM:304400', 'ORDO:383']",['DOID:0050566']
5090,0111738,X-linked deafness 7,"""An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in GPRASP2 on chromosome Xq22.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28096187]",['DO_rare_slim'],"['OMIM:301018', 'ORDO:500188']",['DOID:0050566']
5093,0111741,X-linked deafness 5,"""A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in AIFM1 on chromosome Xq26.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16816020, url:https\://www.ncbi.nlm.nih.gov/pubmed/25986071]",['DO_rare_slim'],"['OMIM:300614', 'ORDO:139583']",['DOID:870']
5094,0111742,cerebellar ataxia type 42,"""An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26456284]",['DO_rare_slim'],"['OMIM:616795', 'ORDO:458803']",['DOID:1441']
5096,0111744,cerebellar ataxia type 41,"""An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in TRPC3 on chromosome 4q27."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25477146]",['DO_rare_slim'],"['OMIM:616410', 'ORDO:458798']",['DOID:1441']
5097,0111745,cerebellar ataxia type 43,"""An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27583304]",['DO_rare_slim'],"['OMIM:617018', 'ORDO:497764']",['DOID:1441']
5099,0111747,cerebellar ataxia type 9,"""An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/31632837, url:https\://www.ncbi.nlm.nih.gov/pubmed/9159738]",['DO_rare_slim'],"['GARD:10481', 'OMIM:612876']",['DOID:1441']
5100,0111748,mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1,"""A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1550128]",['DO_rare_slim'],['OMIM:500015'],['DOID:0111143']
5101,0111749,mitochondrial complex V (ATP synthase) deficiency nuclear type 6,"""A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in ATP5MD on chromosome 10q24.33."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/29917077]",['DO_rare_slim'],['OMIM:618683'],['DOID:0111143']
5106,0111754,Leber plus disease,"""A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27696015]",['DO_rare_slim'],['ORDO:99718'],['DOID:225']
5112,0111760,"46,XX sex reversal","""A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous."" [url:https\://ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301589]",['DO_rare_slim'],"['GARD:399', 'MESH:D058531', 'ORDO:393']",['DOID:14447']
5117,0111765,X-linked cardiac valvular dysplasia,"""A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in FLNA on chromosome Xq28."" [url:https\://ghr.nlm.nih.gov/condition/x-linked-cardiac-valvular-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/17190868]",['DO_rare_slim'],"['MESH:C536197', 'NCI:C141423', 'OMIM:314400', 'ORDO:555877', 'SNOMEDCT_US_2022_09_01:67202007', 'UMLS_CUI:C0268341']",['DOID:4079']
5118,0111766,X-linked VACTERL association,"""A VACTERL association that has_material_basis_in mutation in ZIC3 on chromosome Xq26.3 or FANCB on chromosome Xp22.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15502827, url:https\://www.ncbi.nlm.nih.gov/pubmed/20452998]",['DO_rare_slim'],"['GARD:8498', 'OMIM:314390']",['DOID:14679']
5119,0111767,X-linked thrombocytopenia with beta-thalassemia,"""A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of GATA1 on chromosome Xp11.23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18930124, url:https\://www.ncbi.nlm.nih.gov/pubmed/22102271]",['DO_rare_slim'],"['MESH:C564050', 'NCI:C134941', 'OMIM:314050', 'ORDO:231393', 'SNOMEDCT_US_2022_09_01:718196002', 'UMLS_CUI:C1839161']",['DOID:74']
5120,0111768,X-linked properdin deficiency,"""A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8530058]",['DO_rare_slim'],"['GARD:9913', 'MESH:C537241', 'OMIM:312060', 'ORDO:2966', 'SNOMEDCT_US_2022_09_01:81166004', 'UMLS_CUI:C0398762', 'UMLS_CUI:C1839454']",['DOID:626']
5125,0111773,"46,XY sex reversal 8","""A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in AKR1C2 on chromosome 10p15.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1956279, url:https\://www.ncbi.nlm.nih.gov/pubmed/21802064, url:https\://www.ncbi.nlm.nih.gov/pubmed/4352099]",['DO_rare_slim'],"['OMIM:614279', 'ORDO:443087']",['DOID:14448']
5129,0111777,"46,XY sex reversal 2","""A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of NR0B1 on chromosome Xp21.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1956279, url:https\://www.ncbi.nlm.nih.gov/pubmed/567843, url:https\://www.ncbi.nlm.nih.gov/pubmed/7951319]",['DO_rare_slim'],"['GARD:9159', 'OMIM:300018']",['DOID:14448']
5131,0111779,X-linked panhypopituitarism,"""A panhypopituitarism that has_material_basis_in duplications in SOX3 on chromosome Xq27.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15800844]",['DO_rare_slim'],"['GARD:6737', 'OMIM:312000']",['DOID:9410']
5132,0111780,TARP syndrome,"""A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in RBM10 on chromosome Xp11.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20451169, url:https\://www.ncbi.nlm.nih.gov/pubmed/30450804]",['DO_rare_slim'],"['GARD:10089', 'MESH:C536942', 'OMIM:311900', 'ORDO:2886', 'SNOMEDCT_US_2022_09_01:725911008', 'UMLS_CUI:C1839463']",['DOID:225']
5134,0111782,otopalatodigital syndrome spectrum disorder,"""A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10706363, url:https\://www.ncbi.nlm.nih.gov/pubmed/16926860, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301567]",['DO_rare_slim'],['ORDO:364541'],['DOID:0080006']
5135,0111783,otopalatodigital syndrome type 1,"""An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of FLNA on chromosome Xq28."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12612583, url:https\://www.ncbi.nlm.nih.gov/pubmed/20301567]",['DO_rare_slim'],"['GARD:5121', 'MESH:C536065', 'NCI:C118845', 'OMIM:311300', 'ORDO:90650', 'SNOMEDCT_US_2022_09_01:54036001', 'UMLS_CUI:C0265251']",['DOID:0111782']
5136,0111784,otopalatodigital syndrome type 2,"""An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4 ,or 5 in males or exons 28 or 29 in females of FLNA on chromosome Xq28."" [url:https\://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-2, url:https\://www.ncbi.nlm.nih.gov/pubmed/12612583, url:https\://www.ncbi.nlm.nih.gov/pubmed/15654694]",['DO_rare_slim'],"['GARD:5802', 'MESH:C538089', 'OMIM:304120', 'ORDO:90652', 'SNOMEDCT_US_2022_09_01:42432003', 'UMLS_CUI:C1844696']",['DOID:0111782']
5137,0111785,frontometaphyseal dysplasia,"""An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12612583, url:https\://www.ncbi.nlm.nih.gov/pubmed/15523633]",['DO_rare_slim'],"['GARD:826', 'MESH:C538064', 'OMIM:PS305620', 'ORDO:1826', 'SNOMEDCT_US_2022_09_01:62803002', 'UMLS_CUI:C0265293']",['DOID:0111782']
5140,0111788,Melnick-Needles syndrome,"""An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in FLNA on chromosome Xq28."" [url:https\://ghr.nlm.nih.gov/condition/melnick-needles-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/12612583, url:https\://www.ncbi.nlm.nih.gov/pubmed/16538226]",['DO_rare_slim'],"['GARD:7011', 'MEDDRA:10060908', 'MESH:D010009', 'OMIM:309350', 'ORDO:1826', 'SNOMEDCT_US_2022_09_01:13449007', 'UMLS_CUI:C0025237']",['DOID:0111782']
5141,0111789,Frank-Ter Haar syndrome,"""An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in SH3PXD2B on chromosome 5q35.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15523657, url:https\://www.ncbi.nlm.nih.gov/pubmed/20137777]",['DO_rare_slim'],"['GARD:5138', 'MESH:C537274', 'OMIM:249420', 'ORDO:137834', 'SNOMEDCT_US_2022_09_01:720958002', 'UMLS_CUI:C1855305']",['DOID:0111782']
5142,0111790,congenital nystagmus 1,"""A congenital nystagmus that has_material_basis_in mutation in FRMD7 on chromosome Xq26.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17013395]",['DO_rare_slim'],"['GARD:2969', 'OMIM:310700']",['DOID:9649']
5144,0111792,congenital nystagmus 2,"""A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8661013]",['DO_rare_slim'],"['GARD:9599', 'OMIM:164100']",['DOID:9649']
5145,0111793,congenital nystagmus 3,"""A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9806847]",['DO_rare_slim'],"['GARD:9600', 'OMIM:608345']",['DOID:9649']
5148,0111797,autosomal recessive congenital nystagmus,"""A congenital nystagmus characterized by autosomal recessive inheritance."" [url:https\://europepmc.org/article/med/305814]",['DO_rare_slim'],"['GARD:9609', 'OMIM:257400']",['DOID:9649']
5150,0111799,syndromic microphthalmia 1,"""A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in NAA10 on chromosome Xq28."" [url:https\://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/30842225/, url:https\://www.ncbi.nlm.nih.gov/pubmed/13300470, url:https\://www.ncbi.nlm.nih.gov/pubmed/24431331]",['DO_rare_slim'],"['GARD:5066', 'GARD:87', 'OMIM:309800', 'ORDO:568', 'ORDO:85275', 'SNOMEDCT_US_2022_09_01:717222003', 'UMLS_CUI:C1844948']",['DOID:0080636']
5151,0111800,syndromic microphthalmia 12,"""A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in RARB on chromosome 3p24.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17506106, url:https\://www.ncbi.nlm.nih.gov/pubmed/24075189]",['DO_rare_slim'],"['GARD:13235', 'OMIM:615524']",['DOID:0080636']
5152,0111801,syndromic microphthalmia 3,"""A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in SOX2 on chromosome 3q26.33."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12612584, url:https\://www.ncbi.nlm.nih.gov/pubmed/20803647]",['DO_rare_slim'],"['GARD:1443', 'MESH:C565948', 'OMIM:206900', 'ORDO:77298', 'SNOMEDCT_US_2022_09_01:698851003', 'UMLS_CUI:C1859773']",['DOID:0080636']
5153,0111802,syndromic microphthalmia 14,"""A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in MAB21L2 on chromosome 4q31.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24906020]",['DO_rare_slim'],"['OMIM:615877', 'ORDO:424099']",['DOID:0080636']
5154,0111803,syndromic microphthalmia 8,"""A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12471201]",['DO_rare_slim'],"['GARD:3693', 'MESH:C537686', 'OMIM:601349', 'ORDO:3434', 'SNOMEDCT_US_2022_09_01:715533002', 'UMLS_CUI:C1832440']",['DOID:0080636']
5156,0111805,syndromic microphthalmia 6,"""A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in BMP4 on chromosome 14q22.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18252212, url:https\://www.ncbi.nlm.nih.gov/pubmed/21340693]",['DO_rare_slim'],"['GARD:3645', 'MESH:C566440', 'OMIM:607932', 'ORDO:139471', 'SNOMEDCT_US_2022_09_01:721878003', 'UMLS_CUI:C1864689']",['DOID:0080636']
5157,0111806,syndromic microphthalmia 5,"""A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in OTX2 on chromosome 14q22.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15846561]",['DO_rare_slim'],"['GARD:3692', 'MESH:C566441', 'OMIM:610125', 'ORDO:178364', 'SNOMEDCT_US_2022_09_01:718761007', 'UMLS_CUI:C1864690']",['DOID:0080636']
5158,0111807,syndromic microphthalmia 9,"""A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in STRA6 on chromosome 15q24.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17236193, url:https\://www.ncbi.nlm.nih.gov/pubmed/17273977, url:https\://www.ncbi.nlm.nih.gov/pubmed/26373900]",['DO_rare_slim'],"['MESH:C537768', 'OMIM:601186', 'ORDO:2470', 'SNOMEDCT_US_2022_09_01:722458000', 'UMLS_CUI:C1832661']",['DOID:0080636']
5160,0111809,syndromic microphthalmia 2,"""A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in BCOR on chromosome Xp11.4."" [url:https\://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15004558, url:https\://www.ncbi.nlm.nih.gov/pubmed/8723122]",['DO_rare_slim'],"['GARD:4628', 'MESH:C537465', 'OMIM:300166', 'ORDO:2712', 'SNOMEDCT_US_2022_09_01:699300009', 'UMLS_CUI:C1846265']",['DOID:0080636']
5161,0111811,syndromic microphthalmia 13,"""A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in HMGB3 on chromosome Xq28."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24993872, url:https\://www.ncbi.nlm.nih.gov/pubmed/4998085]",['DO_rare_slim'],"['OMIM:300915', 'ORDO:431140']",['DOID:0080636']
5162,0111812,syndromic microphthalmia 10,"""A syndromic microphthalmia characterized by  congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16566018]",['DO_rare_slim'],"['GARD:9292', 'OMIM:611222', 'ORDO:77299']",['DOID:0080636']
5163,0111813,syndactyly type 8,"""A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in FGF16 on chromosome Xq21.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23709756]",['DO_rare_slim'],"['GARD:3559', 'MESH:C564100', 'OMIM:309630', 'ORDO:2498', 'SNOMEDCT_US_2022_09_01:715442006', 'UMLS_CUI:C1839728']",['DOID:11193']
5164,0111814,methylmalonic acidemia and homocysteinemia cblX type,"""A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in HCFC1 on chromosome Xq28."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23000143, url:https\://www.ncbi.nlm.nih.gov/pubmed/24011988]",['DO_rare_slim'],"['OMIM:309541', 'ORDO:369962']",['DOID:14749']
5166,0111816,syndactyly type 1,"""A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21167467, url:https\://www.ncbi.nlm.nih.gov/pubmed/7915184]",['DO_rare_slim'],"['GARD:5081', 'OMIM:185900', 'ORDO:93402']",['DOID:11193']
5167,0111817,syndactyly type 3,"""A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in GJA1 on chromosome 6q22.31."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12457340, url:https\://www.ncbi.nlm.nih.gov/pubmed/14361398]",['DO_rare_slim'],"['GARD:5088', 'MESH:C538154', 'OMIM:186100', 'ORDO:93404', 'SNOMEDCT_US_2022_09_01:715725001', 'UMLS_CUI:C1861366']",['DOID:11193']
5168,0111818,syndactyly type 4,"""A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of LMBR1 on chromosome 7q36.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17476456]",['DO_rare_slim'],"['GARD:4434', 'MESH:C566092', 'OMIM:186200', 'ORDO:93405', 'SNOMEDCT_US_2022_09_01:719158007', 'UMLS_CUI:C1861355']",['DOID:11193']
5169,0111819,syndactyly type 5,"""A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in HOXD13 on chromosome 2q31.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16222680]",['DO_rare_slim'],"['GARD:5089', 'MESH:C538155', 'OMIM:186300', 'ORDO:93406', 'SNOMEDCT_US_2022_09_01:719159004', 'UMLS_CUI:C1861348']",['DOID:11193']
5171,0111821,ichthyosis follicularis-alopecia-photophobia syndrome 1,"""A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in MBTPS2 on chromosome Xp22.12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22105905, url:https\://www.ncbi.nlm.nih.gov/pubmed/4037843]",['DO_rare_slim'],"['GARD:2952', 'MESH:C536085', 'OMIM:308205', 'ORDO:2273', 'UMLS_CUI:C1839988']",['DOID:225']
5172,0111822,CHILD syndrome,"""A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in NSDHL on chromosome Xq28."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7408908]",['DO_rare_slim'],"['GARD:6039', 'MESH:C562515', 'OMIM:308050', 'ORDO:139', 'SNOMEDCT_US_2022_09_01:17608003', 'UMLS_CUI:C0265267']",['DOID:225']
5174,0111824,Aarskog syndrome,"""A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature."" [url:https\://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome]",['DO_rare_slim'],['ORDO:915'],['DOID:225']
5176,0111826,Abruzzo-Erickson syndrome,"""A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in TBX22 on chromosome Xq21.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22784330, url:https\://www.ncbi.nlm.nih.gov/pubmed/839509]",['DO_rare_slim'],"['GARD:360', 'MESH:C535559', 'OMIM:302905', 'ORDO:921', 'SNOMEDCT_US_2022_09_01:718574003', 'UMLS_CUI:C1844862']",['DOID:225']
5177,0111827,X-linked spinal muscular atrophy 2,"""A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in UBA1 on chromosome Xp11.3."" [url:https\://ghr.nlm.nih.gov/condition/x-linked-infantile-spinal-muscular-atrophy, url:https\://www.ncbi.nlm.nih.gov/pubmed/18179898, url:https\://www.ncbi.nlm.nih.gov/pubmed/3341327]",['DO_rare_slim'],"['GARD:8521', 'MESH:C535380', 'OMIM:301830', 'ORDO:1145', 'SNOMEDCT_US_2022_09_01:719836007', 'UMLS_CUI:C1844934']",['DOID:12377']
5178,0111828,X-linked cerebellar ataxia,"""A hereditary ataxia characterized by X-linked inheritance."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10807077]",['DO_rare_slim'],['ORDO:247765'],['DOID:0050953']
5179,0111829,X-linked spinocerebellar ataxia 1,"""An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in ATP2B3 on chromosome Xq28."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10797423, url:https\://www.ncbi.nlm.nih.gov/pubmed/22912398]",['DO_rare_slim'],"['OMIM:302500', 'ORDO:1175']",['DOID:0111828']
5180,0111830,X-linked spinocerebellar ataxia 2,"""An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/13541590]",['DO_rare_slim'],"['GARD:9978', 'OMIM:302600']",['DOID:0111828']
5181,0111831,X-linked spinocerebellar ataxia 3,"""An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/3614654]",['DO_rare_slim'],"['GARD:9981', 'MESH:C537315', 'OMIM:301790', 'ORDO:85297', 'SNOMEDCT_US_2021_09_01:719817002']",['DOID:0111828']
5182,0111832,X-linked spinocerebellar ataxia 4,"""An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/3470628]",['DO_rare_slim'],"['GARD:9980', 'MESH:C537316', 'OMIM:301840', 'ORDO:85292', 'SNOMEDCT_US_2021_09_01:719818007']",['DOID:0111828']
5183,0111833,X-linked spinocerebellar ataxia 5,"""An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18241076]",['DO_rare_slim'],"['MESH:C567478', 'OMIM:300703', 'ORDO:314978', 'UMLS_CUI:C2678048']",['DOID:0111828']
5184,0111834,X-linked reticulate pigmentary disorder,"""A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in POLA1 on chromosome Xp22.1-p21.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27019227]",['DO_rare_slim'],"['MESH:C564461', 'OMIM:301220', 'ORDO:85453', 'SNOMEDCT_US_2022_09_01:717224002', 'UMLS_CUI:C1845050']",['DOID:10123']
5186,0111836,congenital nongoitrous hypothyroidism 7,"""A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in TRHR on chromosome 8q23.1."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9141550]",['DO_rare_slim'],"['OMIM:618573', 'ORDO:99832']",['DOID:0050328']
5190,0111840,Van Esch-O'Driscoll syndrome,"""A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in POLA1 on chromosome Xp22.1-p21.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/31006512]",['DO_rare_slim'],"['OMIM:301030', 'ORDO:163976']",['DOID:0060309']
5192,0111842,Keipert syndrome,"""A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in GPC4 on chromosome Xq26.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30982611]",['DO_rare_slim'],"['GARD:267', 'MESH:C538337', 'NCI:C186306', 'OMIM:301026', 'ORDO:2662', 'SNOMEDCT_US_2022_09_01:763774001', 'UMLS_CUI:C1850627']",['DOID:225']
5210,0111860,AMME complex,"""A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/12011158/]",['DO_rare_slim'],"['MESH:C564570', 'OMIM:300194', 'ORDO:86818', 'SNOMEDCT_US_2022_09_01:720982007', 'UMLS_CUI:C1846242']",['DOID:225']
5212,0111862,congenital bilateral absence of vas deferens,"""A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility."" [url:https\://pubmed.ncbi.nlm.nih.gov/27476656/]",['DO_rare_slim'],['ORDO:48'],['DOID:12336']
5215,0111865,MEND syndrome,"""A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23."" [url:https\://pubmed.ncbi.nlm.nih.gov/22229330/, url:https\://pubmed.ncbi.nlm.nih.gov/24700572/]",['DO_rare_slim'],"['OMIM:300960', 'ORDO:401973', 'UMLS_CUI:C4085243']",['DOID:3146']
5216,0111866,trichothiodystrophy,"""A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections."" [url:https\://ghr.nlm.nih.gov/condition/trichothiodystrophy, url:https\://pubmed.ncbi.nlm.nih.gov/18603627/]",['DO_rare_slim'],"['MESH:D054463', 'NCI:C4924', 'OMIM:PS601675', 'ORDO:33364', 'SNOMEDCT_US_2022_09_01:723551003', 'UMLS_CUI:C1955934']",['DOID:225']
5224,0111874,Sabinas brittle hair syndrome,"""A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility."" [url:https\://pubmed.ncbi.nlm.nih.gov/7325159/]",['DO_rare_slim'],"['MESH:C536320', 'OMIM:211390', 'ORDO:3123']",['DOID:0111867']
5248,0111898,CK syndrome,"""A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in NSDHL on chromosome Xq28."" [url:https\://pubmed.ncbi.nlm.nih.gov/19377476/, url:https\://pubmed.ncbi.nlm.nih.gov/21129721/]",['DO_rare_slim'],"['OMIM:300831', 'ORDO:251383', 'SNOMEDCT_US_2022_09_01:773329005', 'UMLS_CUI:C3151781']",['DOID:3146']
5253,0111903,thrombophilia due to HRG deficiency,"""A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/8236132/, url:https\://pubmed.ncbi.nlm.nih.gov/9414276/]",['DO_rare_slim'],"['OMIM:613116', 'ORDO:217467', 'UMLS_CUI:C2751090']",['DOID:2452']
5255,0111905,autosomal recessive thrombophilia due to protein S deficiency,"""A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in PROS1 on chromosome 3q11.1."" [url:https\://pubmed.ncbi.nlm.nih.gov/10063989/, url:https\://pubmed.ncbi.nlm.nih.gov/20484936/]",['DO_rare_slim'],"['OMIM:614514', 'ORDO:743', 'UMLS_CUI:C3281092']",['DOID:2451']
5257,0111907,thrombophilia due to thrombin defect,"""A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/11570053/, url:https\://pubmed.ncbi.nlm.nih.gov/22716977/]",['DO_rare_slim'],"['GARD:10815', 'OMIM:188050', 'UMLS_CUI:C3160733']",['DOID:2452']
5258,0111908,thrombophilia due to thrombomodulin defect,"""A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in THBD on chromosome 20p11.21."" [url:https\://pubmed.ncbi.nlm.nih.gov/22036808/]",['DO_rare_slim'],"['MESH:C566057', 'OMIM:614486', 'ORDO:436169', 'SNOMEDCT_US_2022_09_01:1197595004', 'UMLS_CUI:C3280976']",['DOID:2452']
5281,0111931,syndactyly-telecanthus-anogenital and renal malformations syndrome,"""A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in FAM58A on chromosome Xq28."" [url:https\://pubmed.ncbi.nlm.nih.gov/18297069/, url:https\://pubmed.ncbi.nlm.nih.gov/8818947/]",['DO_rare_slim'],"['GARD:10295', 'MESH:C567475', 'OMIM:300707', 'ORDO:140952', 'SNOMEDCT_US_2022_09_01:723581006', 'UMLS_CUI:C2678045']",['DOID:225']
5282,0111932,severe congenital encephalopathy due to MECP2 mutation,"""A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in MECP2 on chromosome Xq28."" [url:https\://ghr.nlm.nih.gov/condition/mecp2-related-severe-neonatal-encephalopathy, url:https\://pubmed.ncbi.nlm.nih.gov/12615169/]",['DO_rare_slim'],"['MESH:C566878', 'NCI:C132293', 'OMIM:300673', 'ORDO:209370', 'SNOMEDCT_US_2022_09_01:711487002', 'UMLS_CUI:C1968556']",['DOID:936']
5283,0111933,phosphoglycerate kinase 1 deficiency,"""A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in PGK1 on chromosome Xq21.1."" [url:https\://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency, url:https\://pubmed.ncbi.nlm.nih.gov/16567715/, url:https\://pubmed.ncbi.nlm.nih.gov/4230542/]",['DO_rare_slim'],"['GARD:7389', 'MESH:C567067', 'NCI:C126738', 'OMIM:300653', 'ORDO:713', 'UMLS_CUI:C1970848']",['DOID:4194']
5284,0111934,immunodeficiency 38,"""A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in ISG15 on chromosome 1p36.33."" [url:https\://pubmed.ncbi.nlm.nih.gov/22859821/, url:https\://pubmed.ncbi.nlm.nih.gov/25307056/]",['DO_rare_slim'],"['OMIM:616126', 'ORDO:319563']",['DOID:612']
5285,0111935,immunodeficiency 16,"""A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in TNFRSF4 on chromosome 1p36.33."" [url:https\://pubmed.ncbi.nlm.nih.gov/20156905/, url:https\://pubmed.ncbi.nlm.nih.gov/23897980/]",['DO_rare_slim'],"['OMIM:615593', 'ORDO:431149', 'UMLS_CUI:C3810053']",['DOID:628']
5286,0111936,immunodeficiency 14,"""A combined T cell and B cell immunodeficiency characterized by  B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in PIK3CD on chromosome 1p36.22."" [url:https\://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/24165795/]",['DO_rare_slim'],"['GARD:11983', 'MESH:C585640', 'NCI:C176015', 'OMIM:615513', 'ORDO:397596', 'SNOMEDCT_US_2022_09_01:711480000', 'UMLS_CUI:C3714976']",['DOID:628']
5287,0111937,immunodeficiency 22,"""A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in LCK on chromosome 1p35.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/9664084/]",['DO_rare_slim'],"['NCI:C176808', 'OMIM:615758', 'ORDO:280142', 'UMLS_CUI:C4014233']",['DOID:627']
5288,0111938,immunodeficiency 24,"""A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in CTPS1 on chromosome 1p34.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/24870241/]",['DO_rare_slim'],"['OMIM:615897', 'ORDO:420573', 'UMLS_CUI:C4014617']",['DOID:627']
5290,0111940,immunodeficiency 42,"""A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in RORC on chromosome 1q21.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/26160376/]",['DO_rare_slim'],"['OMIM:616622', 'ORDO:477857']",['DOID:612']
5291,0111941,immunodeficiency 20,"""A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in FCGR3A on chromosome 1q23.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/23006327/]",['DO_rare_slim'],"['OMIM:615707', 'ORDO:437552']",['DOID:612']
5293,0111943,immunodeficiency 48,"""A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in ZAP70 on chromosome 2q11.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/2511270/]",['DO_rare_slim'],"['GARD:387', 'MESH:C537590', 'OMIM:269840', 'ORDO:911', 'UMLS_CUI:C1849236']",['DOID:11200']
5294,0111944,immunodeficiency 31B,"""A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in STAT1 on chromosome 2q32.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/12590259/, url:https\://pubmed.ncbi.nlm.nih.gov/19084105/]",['DO_rare_slim'],"['OMIM:613796', 'ORDO:391311']",['DOID:612']
5295,0111945,immunodeficiency 31A,"""A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in STAT1 on chromosome 2q32.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/11452125/, url:https\://pubmed.ncbi.nlm.nih.gov/19084105/]",['DO_rare_slim'],"['OMIM:614892', 'ORDO:319595']",['DOID:612']
5296,0111946,immunodeficiency 31C,"""A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in STAT1 on chromosome 2q32.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/21714643/, url:https\://pubmed.ncbi.nlm.nih.gov/23534974/, url:https\://pubmed.ncbi.nlm.nih.gov/23541320/]",['DO_rare_slim'],"['OMIM:614162', 'ORDO:391487']",['DOID:612']
5297,0111947,immunodeficiency 21,"""A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in GATA2 on chromosome 3q21.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/21242295/, url:https\://pubmed.ncbi.nlm.nih.gov/21670465/, url:https\://pubmed.ncbi.nlm.nih.gov/24227816/]",['DO_rare_slim'],"['GARD:10934', 'MESH:D000077428', 'NCI:C126349', 'OMIM:614172', 'ORDO:228423']",['DOID:612']
5298,0111948,immunodeficiency 46,"""A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in TFRC on chromosome 3q29."" [url:https\://pubmed.ncbi.nlm.nih.gov/26642240/]",['DO_rare_slim'],"['OMIM:616740', 'ORDO:476113', 'UMLS_CUI:C4225219']",['DOID:628']
5300,0111950,immunodeficiency 29,"""A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in IL12B on chromosome 5q33.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/19084105/, url:https\://pubmed.ncbi.nlm.nih.gov/9854038/]",['DO_rare_slim'],"['OMIM:614890', 'ORDO:319558']",['DOID:612']
5301,0111951,immunodeficiency 40,"""A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in DOCK2 on chromosome 5q35.1."" [url:https\://pubmed.ncbi.nlm.nih.gov/26083206/]",['DO_rare_slim'],"['GARD:12653', 'NCI:C176799', 'OMIM:616433', 'ORDO:447737', 'SNOMEDCT_US_2022_09_01:1197479002', 'UMLS_CUI:C4225328']",['DOID:628']
5302,0111952,immunodeficiency 57,"""A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in RIPK1 on chromosome 6p25.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/30026316/]",['DO_rare_slim'],"['OMIM:618108', 'ORDO:529977']",['DOID:612']
5303,0111953,immunodeficiency 23,"""A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in PGM3 on chromosome 6q14.1."" [url:https\://pubmed.ncbi.nlm.nih.gov/14981714/, url:https\://pubmed.ncbi.nlm.nih.gov/24589341/]",['DO_rare_slim'],"['GARD:4331', 'NCI:C126339', 'OMIM:615816', 'ORDO:443811', 'SNOMEDCT_US_2022_09_01:1187623009', 'UMLS_CUI:C4014371']",['DOID:628']
5305,0111955,immunodeficiency 27A,"""A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR1 on chromosome 6q23.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/19084105/, url:https\://pubmed.ncbi.nlm.nih.gov/8960473/, url:https\://pubmed.ncbi.nlm.nih.gov/8960475/]",['DO_rare_slim'],"['MESH:C535530', 'OMIM:209950', 'ORDO:319569']",['DOID:612']
5306,0111956,immunodeficiency 27B,"""A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro, recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in IFNGR1 on chromosome 6q23.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/10192386/, url:https\://pubmed.ncbi.nlm.nih.gov/19084105/]",['DO_rare_slim'],"['OMIM:615978', 'ORDO:319581']",['DOID:612']
5307,0111957,immunodeficiency 11A,"""A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in CARD11 on chromosome 7p22.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/23374270/, url:https\://pubmed.ncbi.nlm.nih.gov/23561803/]",['DO_rare_slim'],"['OMIM:615206', 'ORDO:357237', 'UMLS_CUI:C3554686']",['DOID:627']
5311,0111961,immunodeficiency 26,"""A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in PRKDC on chromosome 8q11.21."" [url:https\://pubmed.ncbi.nlm.nih.gov/19075392/, url:https\://pubmed.ncbi.nlm.nih.gov/23722905/]",['DO_rare_slim'],"['NCI:C176795', 'OMIM:615966', 'ORDO:317425', 'UMLS_CUI:C4014833']",['DOID:627']
5317,0111967,immunodeficiency 54,"""An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in MCM4 on chromosome 8q11.21."" [url:https\://pubmed.ncbi.nlm.nih.gov/16532402/, url:https\://pubmed.ncbi.nlm.nih.gov/22354167/]",['DO_rare_slim'],"['MESH:C566492', 'NCI:C123729', 'OMIM:609981', 'ORDO:75391', 'UMLS_CUI:C1864947']",['DOID:0080709']
5318,0111968,immunodeficiency 41,"""A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in IL2RA on chromosome 10p15.1."" [url:https\://pubmed.ncbi.nlm.nih.gov/23416241/, url:https\://pubmed.ncbi.nlm.nih.gov/9096364/]",['DO_rare_slim'],"['MESH:C565232', 'OMIM:606367', 'ORDO:169100']",['DOID:0111962']
5320,0111970,immunodeficiency 10,"""A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous or compound heterozygous mutation in STIM1 on chromosome 11p15.4."" [url:https\://pubmed.ncbi.nlm.nih.gov/26560041/]",['DO_rare_slim'],"['MESH:C557827', 'OMIM:612783', 'ORDO:317430', 'UMLS_CUI:C2748557']",['DOID:0080710']
5326,0111976,immunodeficiency 9,"""A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in ORAI1 on chromosome 12q24.31."" [url:https\://pubmed.ncbi.nlm.nih.gov/16582901/, url:https\://pubmed.ncbi.nlm.nih.gov/20004786/]",['DO_rare_slim'],"['MESH:C557826', 'OMIM:612782', 'ORDO:317428', 'UMLS_CUI:C2748568']",['DOID:11200']
5327,0111977,immunodeficiency 7,"""A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in TRAC on chromosome 14q11.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/21206088/]",['DO_rare_slim'],"['OMIM:615387', 'ORDO:397959', 'UMLS_CUI:C3809332']",['DOID:11200']
5332,0111982,immunodeficiency 56,"""A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in IL21R on chromosome 16p12.1."" [url:https\://pubmed.ncbi.nlm.nih.gov/23440042/]",['DO_rare_slim'],"['OMIM:615207', 'ORDO:357329', 'UMLS_CUI:C3554687']",['DOID:628']
5333,0111983,immunodeficiency 52,"""A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/27242165/, url:https\://pubmed.ncbi.nlm.nih.gov/27522155/]",['DO_rare_slim'],"['OMIM:617514', 'ORDO:504523', 'SNOMEDCT_US_2022_09_01:1179284005', 'UMLS_CUI:C4479588']",['DOID:11200']
5334,0111984,immunodeficiency 58,"""A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in  B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in CARMIL2 on chromosome 16q22.1."" [url:https\://pubmed.ncbi.nlm.nih.gov/27647349/, url:https\://pubmed.ncbi.nlm.nih.gov/29479355/]",['DO_rare_slim'],"['OMIM:618131', 'ORDO:542301', 'UMLS_CUI:C4748304']",['DOID:628']
5336,0111986,immunodeficiency 32A,"""A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in IRF8 on chromosome 16q24.1."" [url:https\://pubmed.ncbi.nlm.nih.gov/21524210/]",['DO_rare_slim'],"['OMIM:614893', 'ORDO:319600', 'UMLS_CUI:C3808589']",['DOID:0111963']
5337,0111987,immunodeficiency 13,"""A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in UNC119 on chromosome 17q11.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/22184408/]",['DO_rare_slim'],"['GARD:12375', 'OMIM:615518', 'ORDO:228000', 'UMLS_CUI:C3809768']",['DOID:11200']
5338,0111988,immunodeficiency 12,"""A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in MALT1 on chromosome 18q21.32."" [url:https\://pubmed.ncbi.nlm.nih.gov/23727036/, url:https\://pubmed.ncbi.nlm.nih.gov/24332264/]",['DO_rare_slim'],"['OMIM:615468', 'ORDO:397964']",['DOID:0111962']
5339,0111989,immunodeficiency 35,"""A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in TYK2 on chromosome 19p13.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/26304966/]",['DO_rare_slim'],"['MESH:C566928', 'OMIM:611521', 'ORDO:331226']",['DOID:612']
5340,0111990,immunodeficiency 30,"""A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in IL12RB1 on chromosome 19p13.11."" [url:https\://pubmed.ncbi.nlm.nih.gov/19084105/, url:https\://pubmed.ncbi.nlm.nih.gov/9603732/, url:https\://pubmed.ncbi.nlm.nih.gov/9603733/]",['DO_rare_slim'],"['NCI:C176800', 'OMIM:614891', 'ORDO:319552', 'UMLS_CUI:C4013949']",['DOID:0080710']
5343,0111993,immunodeficiency 55,"""A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in GINS1 on chromosome 20p11.21."" [url:https\://pubmed.ncbi.nlm.nih.gov/28414293/]",['DO_rare_slim'],"['OMIM:617827', 'ORDO:505227']",['DOID:0111962']
5345,0111995,immunodeficiency 28,"""A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in IFNGR2 on chromosome 21q22.11."" [url:https\://pubmed.ncbi.nlm.nih.gov/11335769/, url:https\://pubmed.ncbi.nlm.nih.gov/19084105/]",['DO_rare_slim'],"['OMIM:614889', 'ORDO:319547']",['DOID:612']
5351,0112001,immunodeficiency 50,"""A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12."" [url:https\://pubmed.ncbi.nlm.nih.gov/27405666/]",['DO_rare_slim'],"['OMIM:300988', 'ORDO:504530']",['DOID:0111962']
5361,0112011,mutilating palmoplantar keratoderma with periorificial keratotic plaques,"""A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions."" [url:https\://pubmed.ncbi.nlm.nih.gov/16227106/, url:https\://pubmed.ncbi.nlm.nih.gov/17367233/, url:https\://pubmed.ncbi.nlm.nih.gov/22405088/]",['DO_rare_slim'],"['GARD:4075', 'MEDDRA:10068842', 'ORDO:659']",['DOID:161']
5371,0112021,non-syndromic X-linked intellectual disability ARX-related,"""A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/10398246/, url:https\://pubmed.ncbi.nlm.nih.gov/17480217/]",['DO_rare_slim'],"['GARD:5614', 'OMIM:300419']",['DOID:0050776']
5375,0112025,female-restricted syndromic X-linked intellectual disability 99,"""A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in USP9X on chromosome Xp11.4."" [url:https\://pubmed.ncbi.nlm.nih.gov/26833328/]",['DO_rare_slim'],"['GARD:13638', 'OMIM:300968']",['DOID:0060309']
5377,0112027,non-syndromic X-linked intellectual disability 14,"""A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/8026106/]",['DO_rare_slim'],"['GARD:8557', 'OMIM:300062']",['DOID:0050776']
5388,0112038,non-syndromic X-linked intellectual disability 1,"""A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in IQSEC2 on chromosome Xp11.22."" [url:https\://pubmed.ncbi.nlm.nih.gov/20473311/, url:https\://pubmed.ncbi.nlm.nih.gov/3177466/]",['DO_rare_slim'],"['GARD:13221', 'OMIM:309530']",['DOID:0050776']
5400,0112050,non-syndromic X-linked intellectual disability 63,"""A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in ACSL4 on chromosome Xq23."" [url:https\://pubmed.ncbi.nlm.nih.gov/10854107/, url:https\://pubmed.ncbi.nlm.nih.gov/11889465/]",['DO_rare_slim'],"['GARD:5613', 'OMIM:300387']",['DOID:0050776']
5406,0112056,X-linked intellectual disability-short stature-overweight syndrome,"""A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in THOC2 on chromosome Xq25."" [url:https\://pubmed.ncbi.nlm.nih.gov/26166480/]",['DO_rare_slim'],"['OMIM:300957', 'ORDO:457240']",['DOID:0060309']
5414,0112064,immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis,"""A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in RAC2 on chromosome 22q13.1."" [url:https\://pubmed.ncbi.nlm.nih.gov/21167572/, url:https\://pubmed.ncbi.nlm.nih.gov/32542921/]",['DO_rare_slim'],"['MESH:C564275', 'OMIM:608203', 'ORDO:183707', 'SNOMEDCT_US_2022_09_01:723443003', 'UMLS_CUI:C1842398']",['DOID:0111962']
5422,0112072,nuclear type mitochondrial complex I deficiency 20,"""A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in ACAD9 on chromosome 3q21.3."" [url:https\://ghr.nlm.nih.gov/condition/acad9-deficiency, url:https\://pubmed.ncbi.nlm.nih.gov/17564966/, url:https\://pubmed.ncbi.nlm.nih.gov/21057504/]",['DO_rare_slim'],"['MESH:C567006', 'OMIM:611126', 'ORDO:99901', 'SNOMEDCT_US_2022_09_01:725046003', 'UMLS_CUI:C1970173']",['DOID:0112065']
5455,0112105,X-linked parkinsonism-spasticity syndrome,"""A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in ATP6AP2 on chromosome Xp11.4."" [url:https\://pubmed.ncbi.nlm.nih.gov/20629132/, url:https\://pubmed.ncbi.nlm.nih.gov/23595882/]",['DO_rare_slim'],"['OMIM:300911', 'ORDO:363654']",['DOID:480']
5456,0112106,"chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia","""A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in HDAC6 on chromosome Xp11.23."" [url:https\://pubmed.ncbi.nlm.nih.gov/16001442/]",['DO_rare_slim'],"['OMIM:300863', 'ORDO:163966']",['DOID:0080352']
5457,0112107,McLeod syndrome,"""A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and  involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1."" [url:https\://medlineplus.gov/genetics/condition/mcleod-neuroacanthocytosis-syndrome/, url:https\://pubmed.ncbi.nlm.nih.gov/17683354/, url:https\://pubmed.ncbi.nlm.nih.gov/8004674/]",['DO_rare_slim'],"['GARD:10731', 'MESH:C564038', 'OMIM:300842', 'ORDO:59306', 'SNOMEDCT_US_2022_09_01:234411007', 'UMLS_CUI:C0398568']",['DOID:0050765']
5467,0112117,combined oxidative phosphorylation deficiency 40,"""A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in QRSL1 on chromosome 6q21."" [url:https\://pubmed.ncbi.nlm.nih.gov/26741492/]",['DO_rare_slim'],"['OMIM:618835', 'ORDO:570491']",['DOID:0060286']
5470,0112120,SHOX-related short stature,"""A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in SHOX or SHOXY on chromosomes Xp22.33 and Yp11.2, respectively."" [url:https\://pubmed.ncbi.nlm.nih.gov/9140395/, url:https\://pubmed.ncbi.nlm.nih.gov/9916840/]",['DO_rare_slim'],"['OMIM:300582', 'ORDO:314795']",['DOID:0080006']
5471,0112121,nephrogenic syndrome of inappropriate antidiuresis,"""A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in AVPR2 on chromosome Xq28."" [url:https\://pubmed.ncbi.nlm.nih.gov/15872203/]",['DO_rare_slim'],"['MESH:C564491', 'OMIM:300539', 'ORDO:93606', 'SNOMEDCT_US_2022_09_01:723440000', 'UMLS_CUI:C1845202']",['DOID:447']
5472,0112122,X-linked epilepsy with variable learning disabilities and behavior disorders,"""An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in SYN1 on chromosome Xp11.3-p11.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/14985377/, url:https\://pubmed.ncbi.nlm.nih.gov/21441247/]",['DO_rare_slim'],"['MESH:C564505', 'OMIM:300491', 'ORDO:85294', 'UMLS_CUI:C1845343']",['DOID:1826']
5473,0112123,"deafness, dystonia, and cerebral hypomyelination","""A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in BCAP31 on chromosome Xq28."" [url:https\://pubmed.ncbi.nlm.nih.gov/24011989/]",['DO_rare_slim'],"['GARD:12472', 'OMIM:300475', 'ORDO:369939']",['DOID:225']
5474,0112124,X-linked retinitis pigmentosa and sinorespiratory infections,"""A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in RPGR on chromosome Xp11.4."" [url:https\://pubmed.ncbi.nlm.nih.gov/10094550/, url:https\://pubmed.ncbi.nlm.nih.gov/1733835/]",['DO_rare_slim'],"['OMIM:300455', 'ORDO:247522']",['DOID:225']
5475,0112125,alpha-thalassemia myelodysplasia syndrome,"""A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in ATRX on chromosome Xq21.1."" [url:https\://pubmed.ncbi.nlm.nih.gov/12858175/]",['DO_rare_slim'],"['MESH:C563023', 'OMIM:300448', 'ORDO:231401', 'SNOMEDCT_US_2022_09_01:307343001', 'UMLS_CUI:C0585216']",['DOID:225']
5476,0112126,Stocco Dos Santos type X-linked intellectual disability,"""A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in SHROOM4 on chromosome Xp11.22."" [url:https\://pubmed.ncbi.nlm.nih.gov/16249884/]",['DO_rare_slim'],"['OMIM:300434', 'ORDO:85288']",['DOID:0060309']
5477,0112127,HRPT-related hyperuricemia,"""A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in HPRT1 on chromosome Xq26.2-q26.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/10657589/, url:https\://pubmed.ncbi.nlm.nih.gov/2896620/]",['DO_rare_slim'],"['OMIM:300323', 'ORDO:79233']",['DOID:1920']
5478,0112128,X-linked severe congenital neutropenia,"""A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23."" [url:https\://pubmed.ncbi.nlm.nih.gov/11242115/]",['DO_rare_slim'],"['GARD:3981', 'MESH:C564539', 'NCI:C176818', 'OMIM:300299', 'ORDO:86788', 'SNOMEDCT_US_2022_09_01:718882006', 'UMLS_CUI:C1845987']",['DOID:0050590']
5479,0112129,severe congenital neutropenia 7,"""A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in CSF3R on chromosome 1p34.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/24753537/, url:https\://pubmed.ncbi.nlm.nih.gov/26324699/]",['DO_rare_slim'],"['OMIM:617014', 'ORDO:420702']",['DOID:0050590']
5480,0112130,autosomal dominant severe congenital neutropenia,"""A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene."" [url:https\://medlineplus.gov/genetics/condition/severe-congenital-neutropenia, url:https\://pubmed.ncbi.nlm.nih.gov/28593997/]",['DO_rare_slim'],"['GARD:9558', 'ORDO:486']",['DOID:0050590']
5482,0112132,severe congenital neutropenia 5,"""A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in VPS45 on chromosome 1q21.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/23599270/, url:https\://pubmed.ncbi.nlm.nih.gov/23738510/]",['DO_rare_slim'],"['OMIM:615285', 'ORDO:369852']",['DOID:0050590']
5483,0112133,severe congenital neutropenia 3,"""A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in HAX1 on chromosome 1q21.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/17187068/, url:https\://pubmed.ncbi.nlm.nih.gov/21108402/]",['DO_rare_slim'],"['GARD:302', 'OMIM:610738', 'ORDO:99749']",['DOID:0050590']
5484,0112134,severe congenital neutropenia 6,"""A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in JAGN1 on chromosome 3p25.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/25129144/]",['DO_rare_slim'],"['OMIM:616022', 'ORDO:423384']",['DOID:0050590']
5486,0112136,severe congenital neutropenia 4,"""A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in G6PC3 on chromosome 17q21.31."" [url:https\://pubmed.ncbi.nlm.nih.gov/19118303/]",['DO_rare_slim'],"['OMIM:612541', 'ORDO:331176']",['DOID:0050590']
5499,0112149,terminal osseous dysplasia,"""A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in FLNA on chromosome Xq28."" [url:https\://pubmed.ncbi.nlm.nih.gov/20598277/]",['DO_rare_slim'],"['MESH:C564554', 'OMIM:300244', 'ORDO:88630', 'UMLS_CUI:C1846129']",['DOID:225']
5500,0112150,X-linked spondyloepimetaphyseal dysplasia,"""A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28."" [url:https\://pubmed.ncbi.nlm.nih.gov/27236923/, url:https\://pubmed.ncbi.nlm.nih.gov/8064814/]",['DO_rare_slim'],"['GARD:4979', 'MESH:C564714', 'OMIM:300106', 'ORDO:93349', 'SNOMEDCT_US_2022_09_01:770603000', 'UMLS_CUI:C1848097']",['DOID:0080027']
5501,0112151,corpus callosum agenesis-abnormal genitalia syndrome,"""A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/14722918/, url:https\://pubmed.ncbi.nlm.nih.gov/1605226/]",['DO_rare_slim'],"['GARD:4528', 'OMIM:300004', 'ORDO:2508']",['DOID:225']
5502,0112152,CHIME syndrome,"""A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in PIGL on chromosome 17p11.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/22444671/]",['DO_rare_slim'],"['GARD:310', 'MESH:C536729', 'OMIM:280000', 'ORDO:3474', 'SNOMEDCT_US_2022_09_01:720639008', 'UMLS_CUI:C1848392']",['DOID:225']
5506,0112156,X-linked dyserythropoietic anemia,"""An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in GATA1 on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen."" [url:https\://pubmed.ncbi.nlm.nih.gov/16783379/, url:https\://pubmed.ncbi.nlm.nih.gov/22706301/]",['DO_rare_slim'],"['OMIM:300835', 'ORDO:363727']",['DOID:2355']
5508,0112158,De Sanctis-Cacchione syndrome,"""A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration."" [url:https\://pubmed.ncbi.nlm.nih.gov/10767341/, url:https\://pubmed.ncbi.nlm.nih.gov/2168777/, url:https\://pubmed.ncbi.nlm.nih.gov/28491977/]",['DO_rare_slim'],"['GARD:8276', 'MESH:C535992', 'NCI:C84666', 'OMIM:278800', 'ORDO:1569', 'SNOMEDCT_US_2022_09_01:254201008', 'UMLS_CUI:C0265201']",['DOID:0050427']
5521,0112171,wrinkly skin syndrome,"""A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in ATP6V0A2 on chromosome 12q24.31."" [url:https\://pubmed.ncbi.nlm.nih.gov/18157129/, url:https\://pubmed.ncbi.nlm.nih.gov/4765201/, url:https\://www.ncbi.nlm.nih.gov/books/NBK5200/]",['DO_rare_slim'],"['GARD:273', 'MESH:C536750', 'OMIM:278250', 'ORDO:2834', 'SNOMEDCT_US_2022_09_01:238875009', 'UMLS_CUI:C0406587']",['DOID:225']
5522,0112172,hereditary combined deficiency of vitamin K-dependent clotting factors,"""A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation."" [url:https\://pubmed.ncbi.nlm.nih.gov/20630065/]",['DO_rare_slim'],"['ORDO:98434', 'SNOMEDCT_US_2022_09_01:724356003', 'UMLS_CUI:C4510617']",['DOID:1247']
5527,0112177,Mayer-Rokitansky-Kuster-Hauser syndrome,"""A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype."" [url:https\://pubmed.ncbi.nlm.nih.gov/32819397/]",['DO_rare_slim'],['ORDO:3109'],['DOID:225']
5528,0112178,Mayer-Rokitansky-Kuster-Hauser syndrome type 1,"""A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype."" [url:https\://pubmed.ncbi.nlm.nih.gov/16691591/]",['DO_rare_slim'],"['OMIM:277000', 'ORDO:247775']",['DOID:0112177']
5529,0112179,Mayer-Rokitansky-Kuster-Hauser syndrome type 2,"""A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects."" [url:https\://pubmed.ncbi.nlm.nih.gov/469663/]",['DO_rare_slim'],"['OMIM:601076', 'ORDO:2578']",['DOID:0112177']
5530,0112180,urocanase deficiency,"""A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in UROC1 on chromosome 3q21.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/19304569/, url:https\://pubmed.ncbi.nlm.nih.gov/6107814/]",['DO_rare_slim'],"['GARD:8539', 'MESH:C536479', 'OMIM:276880', 'ORDO:210128', 'SNOMEDCT_US_2022_09_01:60952007', 'UMLS_CUI:C0268514']",['DOID:9265']
5531,0112181,Schinzel type phocomelia,"""A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in WNT7A on chromosome 3p25.1."" [url:https\://pubmed.ncbi.nlm.nih.gov/16826533/, url:https\://pubmed.ncbi.nlm.nih.gov/20949531/]",['DO_rare_slim'],"['GARD:9212', 'OMIM:276820', 'ORDO:2879']",['DOID:225']
5532,0112182,mismatch repair cancer syndrome,"""A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively."" [url:https\://pubmed.ncbi.nlm.nih.gov/24737826/, url:https\://pubmed.ncbi.nlm.nih.gov/7661930/]",['DO_rare_slim'],"['OMIM:276300', 'ORDO:252202']",['DOID:225']
5533,0112183,familial thyroid dyshormonogenesis,"""A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis."" [url:https\://pubmed.ncbi.nlm.nih.gov/15863666/]",['DO_rare_slim'],['ORDO:95716'],['DOID:0050328']
5541,0112191,tetraamelia syndrome,"""A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system."" [url:https\://medlineplus.gov/genetics/condition/tetra-amelia-syndrome/, url:https\://pubmed.ncbi.nlm.nih.gov/16283889/]",['DO_rare_slim'],"['GARD:386', 'ORDO:3301']",['DOID:225']
5542,0112192,tetraamelia syndrome 1,"""A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32."" [url:https\://pubmed.ncbi.nlm.nih.gov/14872406/]",['DO_rare_slim'],"['GARD:5148', 'OMIM:273395']",['DOID:0112191']
5543,0112193,tetraamelia syndrome 2,"""A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1."" [url:https\://pubmed.ncbi.nlm.nih.gov/16283889/, url:https\://pubmed.ncbi.nlm.nih.gov/29769720/]",['DO_rare_slim'],"['GARD:5147', 'OMIM:618021']",['DOID:0112191']
5544,0112194,Filippi syndrome,"""A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in CKAP2L on chromosome 2q14.1."" [url:https\://pubmed.ncbi.nlm.nih.gov/18553552/, url:https\://pubmed.ncbi.nlm.nih.gov/25439729/]",['DO_rare_slim'],"['GARD:62', 'MESH:C538152', 'OMIM:272440', 'ORDO:3255']",['DOID:225']
5545,0112195,spondyloperipheral dysplasia,"""An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."" [url:https\://pubmed.ncbi.nlm.nih.gov/15316962/, url:https\://pubmed.ncbi.nlm.nih.gov/8723097/]",['DO_rare_slim'],"['OMIM:271700', 'ORDO:1856']",['DOID:2256']
5546,0112196,"spondylometaepiphyseal dysplasia, short limb-hand type","""A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in DDR2 on chromosome 1q23.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/31406622/, url:https\://pubmed.ncbi.nlm.nih.gov/8434618/]",['DO_rare_slim'],"['GARD:10616', 'MESH:C564794', 'OMIM:271665', 'ORDO:93358', 'UMLS_CUI:C1849011']",['DOID:0080027']
5547,0112197,spondyloepimetaphyseal dysplasia with joint laxity,"""A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility."" [url:https\://pubmed.ncbi.nlm.nih.gov/30358852/]",['DO_rare_slim'],"['GARD:4982', 'MESH:C562968', 'OMIM:PS271640', 'ORDO:93359']",['DOID:0080027']
5549,0112199,spondyloepimetaphyseal dysplasia with joint laxity type 2,"""A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/19277648/, url:https\://pubmed.ncbi.nlm.nih.gov/22152677/]",['DO_rare_slim'],"['OMIM:603546', 'ORDO:93360']",['DOID:0112197']
5574,0112224,chondrodysplasia with joint dislocations gPAPP type,"""An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in IMPAD1 on chromosome 8q12."" [url:https\://pubmed.ncbi.nlm.nih.gov/21549340/, url:https\://pubmed.ncbi.nlm.nih.gov/22887726/]",['DO_rare_slim'],"['GARD:11009', 'OMIM:614078', 'ORDO:280586']",['DOID:2256']
5575,0112225,BH4-deficient hyperphenylalaninemia B,"""A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in GCH1 on chromosome 14q22.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/7869202/]",['DO_rare_slim'],"['OMIM:233910', 'ORDO:2102']",['DOID:0081132']
5576,0112226,Bosch-Boonstra-Schaaf optic atrophy syndrome,"""A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in NR2F1 on chromosome 5q15."" [url:https\://pubmed.ncbi.nlm.nih.gov/24462372/]",['DO_rare_slim'],"['OMIM:615722', 'ORDO:401777']",['DOID:225']
5578,0112228,lissencephaly 9 with complex brainstem malformation,"""A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in MACF1 on chromosome 1p34.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/24507697/, url:https\://pubmed.ncbi.nlm.nih.gov/30471716/]",['DO_rare_slim'],"['OMIM:618325', 'ORDO:572013']",['DOID:0050453']
5582,0112232,lissencephaly 3,"""A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in TUBA1A on chromosome 12q13.12."" [url:https\://pubmed.ncbi.nlm.nih.gov/17218254/, url:https\://pubmed.ncbi.nlm.nih.gov/30744660/]",['DO_rare_slim'],"['MESH:C566908', 'OMIM:611603', 'ORDO:171680']",['DOID:0050453']
5584,0112234,microlissencephaly,"""A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly."" [url:https\://pubmed.ncbi.nlm.nih.gov/9588537/]",['DO_rare_slim'],['ORDO:1083'],['DOID:0050453']
5587,0112237,lissencephaly 1,"""A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in PAFAH1B1 on chromosome 17p13.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/11754098/, url:https\://pubmed.ncbi.nlm.nih.gov/12668601/]",['DO_rare_slim'],"['OMIM:607432', 'ORDO:95232']",['DOID:0050453']
5588,0112238,X-linked lissencephaly 2,"""A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/11891829/, url:https\://pubmed.ncbi.nlm.nih.gov/12379852/]",['DO_rare_slim'],"['OMIM:300215', 'ORDO:452']",['DOID:0050453']
5591,0112241,multiple benign circumferential skin creases on limbs,"""A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin."" [url:https\://pubmed.ncbi.nlm.nih.gov/26637975/]",['DO_rare_slim'],['ORDO:2505'],['DOID:37']
5594,0112244,"alopecia, neurologic defects, and endocrinopathy syndrome","""A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in RBM28 on chromosome 7q32.1."" [url:https\://pubmed.ncbi.nlm.nih.gov/18439547/]",['DO_rare_slim'],"['MESH:C567425', 'OMIM:612079', 'ORDO:157954']",['DOID:225']
5596,0112246,glutaric acidemia type 3,"""A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in SUGCT on chromosome 7p14.1."" [url:https\://pubmed.ncbi.nlm.nih.gov/23893049/]",['DO_rare_slim'],"['GARD:12469', 'OMIM:231690', 'ORDO:35706']",['DOID:906']
5598,0112248,17-beta hydroxysteroid dehydrogenase 3 deficiency,"""A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of HSD17B3 on chromosome 9q22."" [url:https\://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency/, url:https\://pubmed.ncbi.nlm.nih.gov/11158067/, url:https\://pubmed.ncbi.nlm.nih.gov/8550739/]",['DO_rare_slim'],"['GARD:5659', 'OMIM:264300', 'ORDO:752']",['DOID:3765']
5599,0112249,GAPO syndrome,"""A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in ANTXR1 on chromosome 2p13.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/25045128/, url:https\://pubmed.ncbi.nlm.nih.gov/6507471/]",['DO_rare_slim'],"['OMIM:230740', 'ORDO:2067']",['DOID:225']
5600,0112250,Gaucher's disease type IIIC,"""A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in GBA on chromosome 1q22."" [url:https\://pubmed.ncbi.nlm.nih.gov/10636167/]",['DO_rare_slim'],"['OMIM:231005', 'ORDO:2072']",['DOID:0110959']
5601,0112251,Ghosal hematodiaphyseal syndrome,"""A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34."" [url:https\://medlineplus.gov/genetics/condition/ghosal-hematodiaphyseal-dysplasia/, url:https\://pubmed.ncbi.nlm.nih.gov/18264100/, url:https\://pubmed.ncbi.nlm.nih.gov/3385529/]",['DO_rare_slim'],"['GARD:10297', 'OMIM:231095', 'ORDO:1802']",['DOID:225']
5602,0112252,glutathione synthetase deficiency of erythrocytes,"""A glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22."" [url:https\://pubmed.ncbi.nlm.nih.gov/5476481/, url:https\://pubmed.ncbi.nlm.nih.gov/659603/, url:https\://pubmed.ncbi.nlm.nih.gov/8896573/]",['DO_rare_slim'],"['OMIM:231900', 'ORDO:289849']",['DOID:0080699']
5603,0112253,combined cellular and humoral immune defects with granulomas,"""A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in RAG1 or RAG2 on chromosome 11p12."" [url:https\://pubmed.ncbi.nlm.nih.gov/18463379/]",['DO_rare_slim'],"['GARD:13587', 'MESH:C567115', 'OMIM:233650', 'ORDO:157949']",['DOID:0111962']
5604,0112254,hepatic venoocclusive disease with immunodeficiency,"""A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in SP110 on chromosome 2q37.1."" [url:https\://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency/, url:https\://pubmed.ncbi.nlm.nih.gov/16648851/]",['DO_rare_slim'],"['GARD:10083', 'MESH:C537257', 'OMIM:235550', 'ORDO:79124']",['DOID:225']
5605,0112255,homocystinuria-megaloblastic anemia cblE type,"""An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTRR on chromosome 5p15.31."" [url:https\://pubmed.ncbi.nlm.nih.gov/3384945/]",['DO_rare_slim'],"['OMIM:236270', 'ORDO:2169']",['DOID:9252']
5606,0112256,homocystinuria-megaloblastic anemia cblG type,"""An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43."" [url:https\://pubmed.ncbi.nlm.nih.gov/3384945/, url:https\://pubmed.ncbi.nlm.nih.gov/8968737/]",['DO_rare_slim'],"['GARD:3577', 'OMIM:250940', 'ORDO:2170']",['DOID:9252']
5607,0112257,hydroxykynureninuria,"""An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in KYNU on chromosome 2q22.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/17334708/]",['DO_rare_slim'],"['GARD:10039', 'MESH:C536081', 'OMIM:236800', 'ORDO:79155']",['DOID:9252']
5608,0112258,N-acetylglutamate synthase deficiency,"""A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in NAGS on chromosome 17q21.31."" [url:https\://pubmed.ncbi.nlm.nih.gov/12594532/, url:https\://pubmed.ncbi.nlm.nih.gov/3139931/]",['DO_rare_slim'],"['GARD:7158', 'OMIM:237310', 'ORDO:927']",['DOID:9267']
5609,0112259,Leydig cell hypoplasia,"""A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in LHCGR on chromosome 2p16.3."" [url:https\://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia/, url:https\://pubmed.ncbi.nlm.nih.gov/7719343/]",['DO_rare_slim'],"['GARD:3244', 'MEDDRA:10024406', 'MESH:C562567', 'ORDO:755']",['DOID:3765']
5610,0112260,Leydig cell hypoplasia type I,"""A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in LHCGR on chromosome 2p16.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/10714363/, url:https\://pubmed.ncbi.nlm.nih.gov/11041448/]",['DO_rare_slim'],"['OMIM:238320', 'ORDO:96265']",['DOID:0112259']
5611,0112261,Leydig cell hypoplasia type II,"""A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in LHCGR on chromosome 2p16.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/11041448/]",['DO_rare_slim'],['ORDO:96266'],['DOID:0112259']
5612,0112262,leucine-sensitive hypoglycemia of infancy,"""An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in SUR1 on chromosome 11p15.1."" [url:https\://pubmed.ncbi.nlm.nih.gov/15356046/]",['DO_rare_slim'],"['GARD:9915', 'OMIM:240800']",['DOID:9252']
5613,0112263,hypoinsulinemic hypoglycemia with hemihypertrophy,"""An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in AKT2 on chromosome 19q13.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/21979934/]",['DO_rare_slim'],"['OMIM:240900', 'ORDO:293964']",['DOID:655']
5614,0112264,Woodhouse-Sakati syndrome,"""A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in DCAF17 on chromosome 2q31.1."" [url:https\://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome/, url:https\://pubmed.ncbi.nlm.nih.gov/19026396/, url:https\://pubmed.ncbi.nlm.nih.gov/6876115/]",['DO_rare_slim'],"['GARD:5592', 'MESH:C536742', 'OMIM:241080', 'ORDO:3464']",['DOID:225']
5615,0112265,iminoglycinuria,"""A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33."" [url:https\://pubmed.ncbi.nlm.nih.gov/19033659/]",['DO_rare_slim'],"['GARD:8424', 'MESH:C536285', 'OMIM:242600', 'ORDO:42062']",['DOID:447']
5630,0112280,spondyloepiphyseal dysplasia,"""An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs."" [url:https\://emedicine.medscape.com/article/1260836-overview, url:https\://pubmed.ncbi.nlm.nih.gov/16080123/]",['DO_rare_slim'],['GARD:7687'],['DOID:2256']
5631,0112281,spondyloepiphyseal dysplasia Stanescu type,"""A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."" [url:https\://pubmed.ncbi.nlm.nih.gov/26183434/, url:https\://pubmed.ncbi.nlm.nih.gov/6430256/, url:https\://pubmed.ncbi.nlm.nih.gov/9592900/]",['DO_rare_slim'],"['OMIM:616583', 'ORDO:459051']",['DOID:0112280']
5632,0112282,spondyloepiphyseal dysplasia Kimberley type,"""A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in ACAN on chromosome 15q26.1."" [url:https\://pubmed.ncbi.nlm.nih.gov/16080123/, url:https\://pubmed.ncbi.nlm.nih.gov/1978986/]",['DO_rare_slim'],"['MESH:C564252', 'OMIM:608361', 'ORDO:93283', 'SNOMEDCT_US_2022_09_01:719203001', 'UMLS_CUI:C1842149']",['DOID:0112280']
5634,0112284,spondyloepiphyseal dysplasia tarda,"""A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth."" [url:https\://medlineplus.gov/genetics/condition/x-linked-spondyloepiphyseal-dysplasia-tarda/, url:https\://pubmed.ncbi.nlm.nih.gov/3213464/]",['DO_rare_slim'],['ORDO:93284'],['DOID:0112280']
5635,0112285,autosomal dominant spondyloepiphyseal dysplasia tarda,"""A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13."" [url:https\://pubmed.ncbi.nlm.nih.gov/1353665/, url:https\://pubmed.ncbi.nlm.nih.gov/3213464/]",['DO_rare_slim'],"['GARD:10624', 'OMIM:184100']",['DOID:0112284']
5637,0112287,spondyloepiphyseal dysplasia-brachydactyly and distinctive speech,"""A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech."" [url:https\://pubmed.ncbi.nlm.nih.gov/17515304/]",['DO_rare_slim'],"['GARD:10629', 'MESH:C567128', 'OMIM:611717', 'ORDO:163654', 'SNOMEDCT_US_2022_09_01:718765003', 'UMLS_CUI:C2673649']",['DOID:0112280']
5642,0112292,spondyloepiphyseal dysplasia tarda with intellectual disability,"""A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability."" [url:https\://pubmed.ncbi.nlm.nih.gov/3612708/]",['DO_rare_slim'],"['MESH:C564796', 'OMIM:271620', 'ORDO:163665', 'UMLS_CUI:C1849053']",['DOID:0112284']
5644,0112294,"spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability","""A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability."" [url:https\://pubmed.ncbi.nlm.nih.gov/9557884/]",['DO_rare_slim'],"['OMIM:602611', 'ORDO:163649']",['DOID:225']
5645,0112295,spondylometaphyseal dysplasia,"""An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions."" [url:https\://pubmed.ncbi.nlm.nih.gov/16752352/]",['DO_rare_slim'],['ORDO:254'],['DOID:2256']
5646,0112296,spondylometaphyseal dysplasia Algerian type,"""A spondylometaphyseal dysplasia characterized by dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet."" [url:https\://pubmed.ncbi.nlm.nih.gov/3368247/]",['DO_rare_slim'],"['GARD:504', 'MESH:C535794', 'OMIM:184253', 'ORDO:93316', 'SNOMEDCT_US_2022_09_01:719304005', 'UMLS_CUI:C1866688']",['DOID:0112295']
5647,0112297,spondylometaphyseal dysplasia corner fracture type,"""A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35."" [url:https\://pubmed.ncbi.nlm.nih.gov/2343127/, url:https\://pubmed.ncbi.nlm.nih.gov/29100092/]",['DO_rare_slim'],"['GARD:4991', 'MESH:C535793', 'OMIM:184255', 'ORDO:93315', 'SNOMEDCT_US_2022_09_01:254078005', 'UMLS_CUI:C0432221']",['DOID:0112295']
5648,0112298,spondylometaphyseal dysplasia Sedaghatian type,"""A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in GPX4 on chromosome 19p13.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/24706940/]",['DO_rare_slim'],"['GARD:4993', 'MESH:C535798', 'OMIM:250220', 'ORDO:93317', 'UMLS_CUI:C1855229']",['DOID:0112295']
5649,0112299,axial spondylometaphyseal dysplasia,"""A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in CFAP410 on chromosome 21q22.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/21910225/, url:https\://pubmed.ncbi.nlm.nih.gov/26167768/]",['DO_rare_slim'],"['GARD:8720', 'MESH:C535795', 'OMIM:602271', 'ORDO:168549', 'SNOMEDCT_US_2022_09_01:771301002', 'UMLS_CUI:C1865695']",['DOID:0112295']
5650,0112300,spondylometaphyseal dysplasia with cone-rod dystrophy,"""A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in PCYT1A on chromosome 3q29."" [url:https\://pubmed.ncbi.nlm.nih.gov/15326626/, url:https\://pubmed.ncbi.nlm.nih.gov/24387990/]",['DO_rare_slim'],"['GARD:10647', 'MESH:C563825', 'OMIM:608940', 'ORDO:85167', 'UMLS_CUI:C1837073']",['DOID:0112295']
5651,0112301,spondylometaphyseal dysplasia type A4,"""A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities."" [url:https\://pubmed.ncbi.nlm.nih.gov/1870931/, url:https\://pubmed.ncbi.nlm.nih.gov/9637426/]",['DO_rare_slim'],"['GARD:458', 'MESH:C563803', 'OMIM:609052', 'ORDO:168555', 'SNOMEDCT_US_2022_09_01:782912001', 'UMLS_CUI:C1836862']",['DOID:0112295']
5652,0112302,spondylometaphyseal dysplasia East African type,"""A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies."" [url:https\://pubmed.ncbi.nlm.nih.gov/12457408/]",['DO_rare_slim'],"['GARD:4992', 'OMIM:611702']",['DOID:0112295']
5654,0112304,spondylometaphyseal dysplasia Megarbane-Dagher-Melike type,"""A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in PAM16 on chromosome 16p13.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/24786642/]",['DO_rare_slim'],"['OMIM:613320', 'ORDO:401979']",['DOID:0112295']
5655,0112305,spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism,"""A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia."" [url:https\://pubmed.ncbi.nlm.nih.gov/12503112/]",['DO_rare_slim'],"['GARD:8719', 'MESH:C535791', 'OMIM:607543', 'ORDO:168552', 'UMLS_CUI:C1843706']",['DOID:0112295']
5656,0112306,Mahvash Disease,"""An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of GCGR on chromosome 17q25.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/29702528/]",['DO_rare_slim'],"['GARD:10460', 'ORDO:438274']",['DOID:1428']
5657,0112307,sarcosinemia,"""An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in SARDH on chromosome 9q34.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/22825317/, url:https\://pubmed.ncbi.nlm.nih.gov/5936868/]",['DO_rare_slim'],"['GARD:158', 'ICD10CM:E72.59', 'MEDDRA:10059299', 'MESH:C537236', 'OMIM:268900', 'ORDO:3129', 'SNOMEDCT_US_2022_09_01:64852002', 'UMLS_CUI:C0268563']",['DOID:9252']
5658,0112308,central precocious puberty,"""An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys."" [url:https\://pubmed.ncbi.nlm.nih.gov/23738509/, url:https\://pubmed.ncbi.nlm.nih.gov/30086862/]",['DO_rare_slim'],"['ICD10CM:E22.8', 'MESH:D011629', 'NCI:C113217', 'ORDO:759', 'SNOMEDCT_US_2022_09_01:237816004', 'UMLS_CUI:C0342543']",['DOID:28']
5661,0112311,male infertility due to acephalic spermatozoa,"""A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads."" [url:https\://pubmed.ncbi.nlm.nih.gov/27640305/]",['DO_rare_slim'],['ORDO:529970'],['DOID:0111910']
5662,0112312,male infertility due to globozoospermia,"""A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects."" [url:https\://pubmed.ncbi.nlm.nih.gov/3338587/]",['DO_rare_slim'],"['GARD:12502', 'ORDO:171709']",['DOID:0111910']
5667,0112317,Schindler disease,"""A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in NAGA on chromosome 22q13.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/3149698/]",['DO_rare_slim'],['ORDO:3137'],['DOID:3211']
5668,0112318,Schindler disease type 1,"""A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in NAGA on chromosome 22q13.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/2889023/]",['DO_rare_slim'],"['GARD:116', 'OMIM:609241', 'ORDO:79279']",['DOID:0112317']
5669,0112319,Kanzaki disease,"""A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13."" [url:https\://pubmed.ncbi.nlm.nih.gov/2564952/]",['DO_rare_slim'],"['GARD:9161', 'OMIM:609242', 'ORDO:79280']",['DOID:0112317']
5670,0112320,Schindler disease type 3,"""A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in NAGA on chromosome 22q13.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/8071745/]",['DO_rare_slim'],"['GARD:3903', 'ORDO:79281']",['DOID:0112317']
5672,0112322,pontocerebellar hypoplasia type 1,"""A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia."" [url:https\://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/, url:https\://pubmed.ncbi.nlm.nih.gov/21749694/]",['DO_rare_slim'],"['GARD:10704', 'MESH:C548069', 'ORDO:2254']",['DOID:0060264']
5674,0112324,pontocerebellar hypoplasia type 11,"""A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in TBC1D23 on chromosome 3q12.1-q12.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/28823706/]",['DO_rare_slim'],"['OMIM:617695', 'ORDO:611247']",['DOID:0060264']
5677,0112327,pontocerebellar hypoplasia type 12,"""A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in COASY on chromosome 17q21.2."" [url:https\://pubmed.ncbi.nlm.nih.gov/30089828/]",['DO_rare_slim'],"['OMIM:618266', 'ORDO:611256']",['DOID:0060264']
5678,0112328,pontocerebellar hypoplasia type 2,"""A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy."" [url:https\://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/]",['DO_rare_slim'],"['GARD:10705', 'MESH:C548070', 'ORDO:2524']",['DOID:0060264']
5689,0112339,Tatton-Brown-Rahman syndrome,"""A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in DNMT3A on chromosome 2p23.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/24614070/, url:https\://pubmed.ncbi.nlm.nih.gov/34315901/]",['DO_rare_slim'],"['OMIM:615879', 'ORDO:404443']",['DOID:0050888']
5694,0112344,hereditary spastic paraplegia 79,"""A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in UCHL1 on chromosome 4p13."" [url:https\://pubmed.ncbi.nlm.nih.gov/28007905/]",['DO_rare_slim'],"['OMIM:615491', 'ORDO:352654']",['DOID:2476']
5698,0112348,hereditary spastic paraplegia 78,"""A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in ATP13A2 on chromosome 1p36.13."" [url:https\://pubmed.ncbi.nlm.nih.gov/28137957/]",['DO_rare_slim'],"['OMIM:617225', 'ORDO:513436']",['DOID:2476']
5699,0112349,hereditary spastic paraplegia 81,"""A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in SELENOI on chromosome 2p23.3."" [url:https\://pubmed.ncbi.nlm.nih.gov/28052917/, url:https\://pubmed.ncbi.nlm.nih.gov/29500230/]",['DO_rare_slim'],"['OMIM:618768', 'ORDO:506353']",['DOID:2476']
5712,0112362,spondylocostal dysostosis 2,"""A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in MESP2 on chromosome 15q26.1."" [url:https\://pubmed.ncbi.nlm.nih.gov/15122512/]",['DO_rare_slim'],"['GARD:6798', 'OMIM:608681']",['DOID:0050568']
5723,0112374,muscular dystrophy-dystroglycanopathy,"""A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan."" [url:https\://pubmed.ncbi.nlm.nih.gov/19299310/]",['DO_rare_slim'],"['ICD10CM:G71.2', 'ORDO:370953']",['DOID:0050557']
5730,0112381,muscular dystrophy-dystroglycanopathy type C12,"""A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in POMK on chromosome 8p11.21."" [url:https\://pubmed.ncbi.nlm.nih.gov/24925318/]",['DO_rare_slim'],"['OMIM:616094', 'ORDO:445110']",['DOID:0112374']
5735,10003,sensorineural hearing loss,"""An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem."" [url:https\://medlineplus.gov/ency/article/003291.htm]","['DO_FlyBase_slim', 'NCIthesaurus']","['ICD10CM:H90.5', 'ICD9CM:389.1', 'MESH:D006319', 'NCI:C26739', 'SNOMEDCT_US_2022_09_01:60700002', 'UMLS_CUI:C0018784']",['DOID:2952']
5736,10011,thyroid lymphoma,"""A thyroid gland cancer that has_material_basis_in lymphocytes."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK544282/]",['NCIthesaurus'],"['NCI:C5265', 'SNOMEDCT_US_2022_09_01:278051002', 'UMLS_CUI:C1336753']",['DOID:1781']
5737,10016,multiple endocrine neoplasia type 2B,"""A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities."" [url:http\://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b, url:http\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia, url:http\://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2b_men_2b.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/15965261, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['ICD10CM:E31.23', 'ICD9CM:258.03', 'MESH:D018814', 'NCI:C3227', 'OMIM:162300', 'ORDO:247709', 'SNOMEDCT_US_2022_09_01:61530001', 'UMLS_CUI:C0025269']",['DOID:3125']
5738,10017,multiple endocrine neoplasia type 1,"""A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas."" [url:http\://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_1, url:http\://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000398.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/25509899]","['DO_rare_slim', 'NCIthesaurus']","['GARD:3829', 'ICD10CM:E31.21', 'ICD9CM:258.01', 'MESH:D018761', 'NCI:C3225', 'OMIM:131100', 'ORDO:652', 'SNOMEDCT_US_2022_09_01:30664006', 'UMLS_CUI:C0025267']",['DOID:3125']
5739,1002,endometritis,"""An endometrial disease that is characterized by inflammation of the endometrium."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7511354]",['NCIthesaurus'],"['MESH:D004716', 'NCI:C26764', 'SNOMEDCT_US_2022_09_01:155975003', 'UMLS_CUI:C0014179']",['DOID:1005']
5740,10020,ampulla of Vater cancer,"""A duodenum cancer that is located_in the ampulla of Vater."" [url:https\://pubmed.ncbi.nlm.nih.gov/25485917/]",['NCIthesaurus'],"['ICD10CM:C24.1', 'ICD9CM:156.2', 'NCI:C3536', 'SNOMEDCT_US_2022_09_01:93668007', 'UMLS_CUI:C0153454']",['DOID:10021']
5741,10021,duodenum cancer,"""A small intestine cancer that is located_in the beginning section of the small intestine."" [url:http\://en.wikipedia.org/wiki/Duodenal_cancer]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C17.0', 'ICD9CM:152.0', 'MESH:D004379', 'NCI:C4803', 'NCI:C9328', 'SNOMEDCT_US_2022_09_01:254570009', 'SNOMEDCT_US_2022_09_01:363403002', 'UMLS_CUI:C0153426', 'UMLS_CUI:C0541912']",['DOID:10154']
5742,10022,ampulla of Vater benign neoplasm,"""A duodenal benign neoplasm that is located_in the ampulla of Vater."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620475/]",['NCIthesaurus'],"['NCI:C4443', 'SNOMEDCT_US_2022_09_01:126858004', 'UMLS_CUI:C0345916']",['DOID:1737']
5743,10024,migraine with aura,"""A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon."" [url:http\://en.wikipedia.org/wiki/Migraine, url:http\://www.mayoclinic.org/diseases-conditions/migraine-with-aura/basics/definition/con-20030404]",['NCIthesaurus'],"['ICD10CM:G43.1', 'ICD9CM:346.0', 'MESH:D020325', 'NCI:C117005', 'OMIM:609179', 'OMIM:609670', 'SNOMEDCT_US_2022_09_01:155047002', 'UMLS_CUI:C0154723']",['DOID:6364']
5744,10027,tabes dorsalis,"""A tertiary neurosyphilis that results in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has symptom intense, stabbing pain in the back and legs that recurs irregularly, has symptom gait ataxia, has symptom hyperesthesia, has symptom paresthesia, has symptom loss of bladder sensation leading to urine retention, has symptom erectile dysfunction."" [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh, url:http\://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'sexually_transmitted_infectious_disease']","['GARD:8730', 'ICD10CM:A52.11', 'ICD9CM:094.0', 'MESH:D013606', 'NCI:C35057', 'SNOMEDCT_US_2022_09_01:266134000', 'UMLS_CUI:C0039223']",['DOID:9988']
5745,1003,pelvic inflammatory disease,"""A female reproductive system disease that is characterized by an infection of the female reproductive organs."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25992748]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:N73.9', 'ICD9CM:614.9', 'MESH:D000292', 'NCI:C3889', 'SNOMEDCT_US_2022_09_01:266648001', 'UMLS_CUI:C0242172']",['DOID:229']
5746,10030,pulmonary interstitial emphysema,"""A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation."" [url:https\://radiopaedia.org/articles/pulmonary-interstitial-emphysema?lang=us, url:https\://www.cedars-sinai.org/health-library/diseases-and-conditions---pediatrics/p/pulmonary-interstitial-emphysema.html]",['NCIthesaurus'],"['ICD10CM:J98.2', 'ICD9CM:518.1', 'NCI:C34571', 'SNOMEDCT_US_2022_09_01:11211003', 'UMLS_CUI:C1370824']",['DOID:9675']
5751,10035,asymptomatic neurosyphilis,"""A tertiary neurosyphilis that results_in mild meningitis."" [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'sexually_transmitted_infectious_disease']","['ICD10CM:A52.2', 'ICD9CM:094.3', 'MESH:D009494', 'SNOMEDCT_US_2022_09_01:37754005', 'UMLS_CUI:C0153167']",['DOID:9988']
5752,10039,late congenital syphilis,"""A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities."" [url:http\://en.wikipedia.org/wiki/Late_congenital_syphilis, url:http\://www.merckmanuals.com/professional/sec19/ch279/ch279d.html]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease']","['ICD10CM:A50.40', 'ICD10CM:A50.5', 'ICD9CM:090.4', 'ICD9CM:090.5', 'MESH:D009494', 'SNOMEDCT_US_2022_09_01:187350002', 'SNOMEDCT_US_2022_09_01:4243004', 'UMLS_CUI:C0153132', 'UMLS_CUI:C0153136']",['DOID:9856']
5753,10040,malignant eyelid melanoma,"""A skin melanoma that arises from the upper or lower eyelid."" [url:https\://eyewiki.aao.org/Malignant_Melanoma_of_the_Eyelid]",['NCIthesaurus'],"['NCI:C4358', 'SNOMEDCT_US_2022_09_01:231834005', 'UMLS_CUI:C0339116']",['DOID:8923']
5754,10041,dysplastic nevus syndrome,"""A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members."" [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/familial-atypical-multiple-mole-melanoma-syndrome]",['DO_rare_slim'],"['GARD:9281', 'MESH:D004416', 'UMLS_CUI:C0205747']",['DOID:225']
5755,10044,balloon cell malignant melanoma,"""A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm."" [url:https\://pubmed.ncbi.nlm.nih.gov/27984232/]",['NCIthesaurus'],"['NCI:C4227', 'SNOMEDCT_US_2022_09_01:403922007', 'UMLS_CUI:C0334426']",['DOID:8923']
5756,10047,nodular malignant melanoma,"""A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule."" [url:http\://en.wikipedia.org/wiki/Nodular_melanoma, url:http\://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/cutaneous-malignant-melanoma/]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9961', 'NCI:C4225', 'SNOMEDCT_US_2022_09_01:2142002', 'UMLS_CUI:C0334424']",['DOID:8923']
5757,1005,endometrial disease,"""A uterine disease that is located_in the endometrium."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25100707]",['NCIthesaurus'],"['NCI:C3504', 'SNOMEDCT_US_2022_09_01:418632009', 'UMLS_CUI:C0151622']",['DOID:345']
5758,10054,skin amelanotic melanoma,"""A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells."" [url:https\://dermnetnz.org/topics/amelanotic-melanoma/]",['NCIthesaurus'],"['NCI:C4633', 'SNOMEDCT_US_2022_09_01:276751004', 'UMLS_CUI:C0349515']",['DOID:8923']
5759,10069,subglottis benign neoplasm,"""A laryngeal benign neoplasm that is located_in the subglottic area of the larynx."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4427]",['NCIthesaurus'],"['NCI:C4426', 'SNOMEDCT_US_2022_09_01:126696001', 'UMLS_CUI:C0345746']",['DOID:2598']
5760,10070,larynx leiomyoma,"""A laryngeal benign neoplasm that derives_from smooth muscle cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20737370]",['NCIthesaurus'],"['NCI:C6027', 'UMLS_CUI:C1334370']",['DOID:2598']
5761,10071,larynx squamous papilloma,"""A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK562327/]",['NCIthesaurus'],"['NCI:C7742', 'SNOMEDCT_US_2022_09_01:269637007', 'UMLS_CUI:C0240164']",['DOID:2598']
5762,10073,syphilitic meningitis,"""A bacterial meningitis that is characterized by inflammation of the tissues covering the brain and spinal cord."" [url:https\://medlineplus.gov/ency/article/000724.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'sexually_transmitted_infectious_disease']","['GARD:8731', 'ICD9CM:094.2', 'MESH:C536775', 'SNOMEDCT_US_2022_09_01:14968007', 'UMLS_CUI:C0153166']",['DOID:9470']
5763,10074,hymenolepiasis,"""A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness."" [url:http\://en.wikipedia.org/wiki/Hymenolepiasis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001378.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:2787', 'ICD10CM:B71.0', 'ICD9CM:123.6', 'MESH:D006925', 'NCI:C84768', 'SNOMEDCT_US_2022_09_01:187153007', 'UMLS_CUI:C0020413']",['DOID:883']
5764,10075,diphyllobothriasis,"""A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia."" [url:http\://en.wikipedia.org/wiki/Diphyllobothrium, url:http\://www.dpd.cdc.gov/dpdx/HTML/Diphyllobothriasis.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:942', 'ICD10CM:B70.0', 'ICD9CM:123.4', 'MESH:D004169', 'NCI:C128391', 'SNOMEDCT_US_2022_09_01:187151009', 'UMLS_CUI:C0012561']",['DOID:883']
5765,10079,cysticercosis,"""A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions."" [url:http\://en.wikipedia.org/wiki/Cysticercosis]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:8194', 'ICD10CM:B69', 'ICD9CM:123.1', 'MESH:D003551', 'NCI:C34520', 'SNOMEDCT_US_2022_09_01:59051007', 'UMLS_CUI:C0010678']",['DOID:0050596']
5766,10080,sparganosis,"""A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected."" [url:http\://en.wikipedia.org/wiki/Sparganosis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Sparganosis.htm]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B70.1', 'ICD9CM:123.5', 'MESH:D013031', 'NCI:C35030', 'SNOMEDCT_US_2022_09_01:187152002', 'UMLS_CUI:C0037753']",['DOID:883']
5767,10081,syphilitic encephalitis,"""An encephalitis that has_material_basis_in central neural system infection by Treponema pallidum."" [url:https\://link.springer.com/article/10.1007/s10072-017-3109-0, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884904/]","['gram-negative_bacterial_infectious_disease', 'sexually_transmitted_infectious_disease']","['ICD9CM:094.81', 'SNOMEDCT_US_2022_09_01:26135000', 'UMLS_CUI:C0153168']",['DOID:9588']
5768,10087,gastric leiomyoma,"""A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern."" [url:https\://radiopaedia.org/articles/gastric-leiomyoma?lang=us]",['NCIthesaurus'],"['NCI:C3876', 'SNOMEDCT_US_2022_09_01:276812001', 'UMLS_CUI:C0238440']",['DOID:0050624']
5769,10095,intracranial abscess,"""A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull."" [url:https\://www.nlm.nih.gov/medlineplus/ency/article/001416.htm]",['NCIthesaurus'],"['ICD9CM:324.0', 'NCI:C34734', 'SNOMEDCT_US_2022_09_01:192738001', 'UMLS_CUI:C0021874']",['DOID:331']
5770,10112,sleeping sickness,"""A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances."" [url:http\://en.wikipedia.org/wiki/African_trypanosomiasis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001362.htm, url:http\://www.who.int/mediacentre/factsheets/fs259/en/]","['DO_infectious_disease_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['ICD10CM:B56', 'ICD9CM:086.5', 'KEGG:05143', 'MESH:D014353', 'NCI:C84541', 'SNOMEDCT_US_2022_09_01:27031003', 'UMLS_CUI:C0041228']",['DOID:10113']
5771,10113,trypanosomiasis,"""A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans."" [url:http\://en.wikipedia.org/wiki/Trypanosomiasis]",['DO_infectious_disease_slim'],"['ICD10CM:B57.2', 'ICD9CM:086', 'MEDDRA:10044707', 'MESH:D014352', 'SNOMEDCT_US_2022_09_01:266205000', 'UMLS_CUI:C0041227']",['DOID:2789']
5774,10124,corneal disease,"""An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26731]","['DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:H18.9', 'ICD9CM:371.9', 'MESH:D003316', 'NCI:C26731', 'SNOMEDCT_US_2022_09_01:15250008', 'UMLS_CUI:C0010034']",['DOID:5614']
5776,10126,keratoconus,"""A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape."" [url:http\://en.wikipedia.org/wiki/Keratoconus, url:http\://ghr.nlm.nih.gov/glossary=keratoconus]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6824', 'ICD10CM:H18.6', 'ICD9CM:371.6', 'MESH:D007640', 'NCI:C26806', 'OMIM:148300', 'OMIM:608586', 'OMIM:608932', 'OMIM:609271', 'OMIM:614622', 'OMIM:614623', 'OMIM:614628', 'OMIM:614629', 'ORDO:156071', 'SNOMEDCT_US_2022_09_01:267733008', 'UMLS_CUI:C0022578']",['DOID:10124']
5778,10128,venous insufficiency,"""A vein disease that is characterized by impaired flow of blood through the veins."" [url:http\://my.clevelandclinic.org/disorders/venous_insufficiency/hic_venous_insufficiency.aspx, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000203.htm]",['NCIthesaurus'],"['ICD9CM:459.81', 'MESH:D014689', 'NCI:C127822', 'SNOMEDCT_US_2022_09_01:20696009', 'UMLS_CUI:C0042485']",['DOID:866']
5779,10131,psychologic vaginismus,"""A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause."" [url:https\://my.clevelandclinic.org/health/diseases/15723-vaginismus, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35113]",['NCIthesaurus'],"['ICD10CM:F52.5', 'ICD9CM:306.51', 'NCI:C35113', 'SNOMEDCT_US_2022_09_01:71787009', 'UMLS_CUI:C0042266']",['DOID:10132']
5781,10138,xerophthalmia,"""A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency."" [url:https\://www.nature.com/articles/eye201417, url:https\://www.ncbi.nlm.nih.gov/books/NBK431094/]",['NCIthesaurus'],"['ICD10CM:E50.7', 'ICD9CM:375.15', 'MESH:D014985', 'NCI:C34503', 'SNOMEDCT_US_2022_09_01:193887002', 'UMLS_CUI:C0043349']",['DOID:10140']
5783,10140,dry eye syndrome,"""A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface."" [url:https\://pubmed.ncbi.nlm.nih.gov/29498987/]",['NCIthesaurus'],"['ICD10CM:H04.12', 'MESH:D015352', 'NCI:C34553', 'SNOMEDCT_US_2022_09_01:193980001', 'UMLS_CUI:C0013238']",['DOID:1400']
5784,10146,thymus lymphoma,"""A thymus cancer that arises from the thymus."" [url:https\://pubmed.ncbi.nlm.nih.gov/12063471/]",['NCIthesaurus'],"['NCI:C6451', 'UMLS_CUI:C1336745']",['DOID:3277']
5788,10153,ileum cancer,"""A small intestine cancer that is located_in the ileum."" [url:http\://en.wikipedia.org/wiki/Ileum]",['TopNodes_DOcancerslim'],"['ICD10CM:C17.2', 'ICD9CM:152.2', 'SNOMEDCT_US_2022_09_01:93832004', 'UMLS_CUI:C0153428']",['DOID:10154']
5789,10154,small intestine cancer,"""An intestinal cancer that is located_in the small intestine."" [url:http\://en.wikipedia.org/wiki/Small_intestine]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9385', 'ICD10CM:C17', 'ICD9CM:152.9', 'NCI:C7523', 'SNOMEDCT_US_2022_09_01:363509000', 'UMLS_CUI:C0153425']",['DOID:10155']
5790,10155,intestinal cancer,"""A gastrointestinal system cancer that is located_in the intestine."" [url:http\://en.wikipedia.org/wiki/Intestine]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C26.0', 'ICD9CM:159.0', 'MESH:D007414', 'NCI:C4572', 'SNOMEDCT_US_2022_09_01:93838000', 'UMLS_CUI:C0346627']",['DOID:3119']
5791,10156,benign ileal neoplasm,"""A small intestine benign neoplasm that affects the wall of the ileum."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3130]",['NCIthesaurus'],"['MESH:D007078', 'NCI:C3130', 'SNOMEDCT_US_2022_09_01:254576003', 'UMLS_CUI:C0020876']",['DOID:7505']
5792,10159,osteonecrosis,"""An ischemic bone disease that results_in necrosis located_in bone."" [url:http\://en.wikipedia.org/wiki/Avascular_necrosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/007260.htm]",['NCIthesaurus'],"['ICD10CM:M87', 'ICD10CM:M87.9', 'ICD9CM:732.3', 'ICD9CM:733.41', 'ICD9CM:733.42', 'ICD9CM:733.43', 'ICD9CM:733.44', 'MESH:D010020', 'NCI:C34404', 'NCI:C34841', 'NCI:C34880', 'NCI:C35226', 'NCI:C35517', 'SNOMEDCT_US_2022_09_01:156837008', 'SNOMEDCT_US_2022_09_01:17926002', 'SNOMEDCT_US_2022_09_01:240196003', 'SNOMEDCT_US_2022_09_01:29281007', 'SNOMEDCT_US_2022_09_01:43453000', 'SNOMEDCT_US_2022_09_01:62100001', 'SNOMEDCT_US_2022_09_01:83453001', 'UMLS_CUI:C0003977', 'UMLS_CUI:C0027543', 'UMLS_CUI:C0029445', 'UMLS_CUI:C0158442', 'UMLS_CUI:C0158449', 'UMLS_CUI:C0158450', 'UMLS_CUI:C0158451', 'UMLS_CUI:C0745048']",['DOID:0080008']
5794,10175,optic papillitis,"""An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc."" [url:https\://en.wikipedia.org/wiki/Optic_papillitis]",['NCIthesaurus'],"['ICD10CM:H35.81', 'ICD10CM:H47.1', 'ICD10CM:H47.11', 'ICD9CM:362.83', 'ICD9CM:377.0', 'ICD9CM:377.01', 'MESH:D010211', 'NCI:C3307', 'SNOMEDCT_US_2022_09_01:3170006', 'SNOMEDCT_US_2022_09_01:423488006', 'SNOMEDCT_US_2022_09_01:6141006', 'UMLS_CUI:C0030353', 'UMLS_CUI:C0155288', 'UMLS_CUI:C0242420', 'UMLS_CUI:C0919308']",['DOID:1210']
5797,10183,endobronchial lipoma,"""A lipoma that is located within the lumen of a bronchus."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563533/]",['NCIthesaurus'],"['NCI:C5063', 'UMLS_CUI:C0852937']",['DOID:3906']
5798,10184,spindle cell lipoma,"""A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men."" [url:http\://en.wikipedia.org/wiki/Lipoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8857/0', 'NCI:C4254', 'SNOMEDCT_US_2022_09_01:27313007', 'UMLS_CUI:C0334474']",['DOID:3315']
5799,10187,esophageal lipoma,"""A lipoma located in the esophagus."" [url:https\://radiopaedia.org/articles/oesophageal-lipoma?lang=us, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043252/]",['NCIthesaurus'],"['NCI:C5701', 'UMLS_CUI:C1333455']",['DOID:0050624']
5800,10188,skin lipoma,"""A skin benign neoplasm that derives_from fat cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23600336]",['NCIthesaurus'],"['ICD9CM:214.0', 'NCI:C4616', 'NCI:C5566', 'SNOMEDCT_US_2022_09_01:255187008', 'SNOMEDCT_US_2022_09_01:93159009', 'UMLS_CUI:C0153968', 'UMLS_CUI:C0347394', 'UMLS_CUI:C1333174']",['DOID:3165']
5801,1019,osteomyelitis,"""A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow."" [url:http\://en.wikipedia.org/wiki/Osteomyelitis, url:http\://my.clevelandclinic.org/disorders/osteomyelitis/hic_osteomyelitis.aspx, url:http\://www.mayoclinic.com/health/osteomyelitis/DS00759, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000437.htm]","['DO_infectious_disease_slim', 'DO_rare_slim']","['GARD:7286', 'ICD9CM:730.1', 'SNOMEDCT_US_2022_09_01:203181001', 'UMLS_CUI:C0008707']",['DOID:3342']
5802,10190,liver lipoma,"""A lipoma located in the liver."" [url:https\://radiopaedia.org/articles/hepatic-lipoma-2?lang=us]",['NCIthesaurus'],"['NCI:C5750', 'UMLS_CUI:C1333970']",['DOID:916']
5803,10192,pleomorphic lipoma,"""A lipoma that is characterized by floret giant cells with overlapping nuclei."" [url:http\://en.wikipedia.org/wiki/Pleomorphic_lipoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8854/0', 'MESH:D008067', 'NCI:C3703', 'SNOMEDCT_US_2022_09_01:189783001', 'UMLS_CUI:C0205823']",['DOID:3315']
5804,10193,conventional lipoma,"""A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones."" [url:https\://pubmed.ncbi.nlm.nih.gov/26857660/]",['NCIthesaurus'],"['NCI:C27530', 'UMLS_CUI:C1333059']",['DOID:3315']
5805,10194,kidney lipoma,"""A lipoma that is located in the kidney."" [url:https\://www.mayoclinic.org/diseases-conditions/lipoma/symptoms-causes/syc-20374470]",['NCIthesaurus'],"['NCI:C5101', 'UMLS_CUI:C1335744']",['DOID:3116']
5806,10195,pleural lipoma,"""A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/29222220]",['NCIthesaurus'],"['NCI:C6644', 'SNOMEDCT_US_2022_09_01:2460001000004103', 'UMLS_CUI:C1335434']",['DOID:0050621']
5807,10199,breast lipoma,"""A breast benign neoplasm that is composed of lipocytes."" [url:https\://en.wikipedia.org/wiki/Benign_tumor]",['NCIthesaurus'],"['NCI:C4647', 'SNOMEDCT_US_2022_09_01:276891009', 'UMLS_CUI:C0349565']",['DOID:0060082']
5808,10200,chest wall lipoma,"""A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23919840]",['NCIthesaurus'],"['NCI:C6719', 'SNOMEDCT_US_2022_09_01:448270009', 'UMLS_CUI:C1332932']",['DOID:0060097']
5809,10201,gallbladder lipoma,"""A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells."" [url:https\://link.springer.com/referenceworkentry/10.1007%2F978-3-319-26587-2_156-1]",['NCIthesaurus'],"['NCI:C5835', 'UMLS_CUI:C1333747']",['DOID:0080640']
5810,10203,external ear lipoma,"""An auditory system benign neoplasm that is located in the external ear."" [url:https\://clinmedjournals.org/articles/ijdrt/journal-of-dermatology-research-and-therapy-ijdrt-1-010.pdf]",['NCIthesaurus'],"['NCI:C4618', 'SNOMEDCT_US_2022_09_01:188988008', 'UMLS_CUI:C0347423']",['DOID:0080619']
5811,10205,axillary lipoma,"""An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue."" [url:http\://en.wikipedia.org/wiki/Axilla, url:http\://en.wikipedia.org/wiki/Lipoma]",['NCIthesaurus'],"['NCI:C35419', 'SNOMEDCT_US_2022_09_01:188993006', 'UMLS_CUI:C0347429']",['DOID:0060097']
5812,10206,lipoma of spermatic cord,"""A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1422475/]",['NCIthesaurus'],"['ICD9CM:214.4', 'NCI:C3606', 'SNOMEDCT_US_2022_09_01:93162007', 'UMLS_CUI:C0153972']",['DOID:10207']
5813,10207,paratesticular lipoma,"""A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region."" [url:https\://pubmed.ncbi.nlm.nih.gov/11103506/]",['NCIthesaurus'],"['NCI:C6384', 'UMLS_CUI:C1335348']",['DOID:0050622']
5814,10208,chondroid lipoma,"""A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women."" [url:http\://en.wikipedia.org/wiki/Lipoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8862/0', 'NCI:C6503', 'SNOMEDCT_US_2022_09_01:404065000', 'UMLS_CUI:C1266131']",['DOID:3315']
5815,10209,extrahepatic bile duct lipoma,"""A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells."" [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/extrahepatic-bile-duct-cancer]",['NCIthesaurus'],"['NCI:C5854', 'UMLS_CUI:C1333509']",['DOID:0050625']
5817,1022,pinta disease,"""A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26304920]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus']","['GARD:7397', 'ICD10CM:A67.0', 'ICD10CM:A67.1', 'ICD10CM:A67.2', 'ICD10CM:A67.3', 'ICD10CM:A67.9', 'ICD9CM:103', 'ICD9CM:103.0', 'ICD9CM:103.1', 'ICD9CM:103.2', 'ICD9CM:103.3', 'MESH:D010874', 'NCI:C85011', 'SNOMEDCT_US_2022_09_01:22064009', 'SNOMEDCT_US_2022_09_01:240685007', 'SNOMEDCT_US_2022_09_01:4669001', 'SNOMEDCT_US_2022_09_01:68202005', 'SNOMEDCT_US_2022_09_01:73594001', 'UMLS_CUI:C0031946', 'UMLS_CUI:C0153241', 'UMLS_CUI:C0153242', 'UMLS_CUI:C0153243', 'UMLS_CUI:C0153244']",['DOID:0050338']
5818,10223,dermatomyositis,"""A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction."" [url:http\://en.wikipedia.org/wiki/Dermatomyositis, url:http\://www.myositis.org/learn-about-myositis/types-of-myositis/dermatomyositis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6263', 'ICD10CM:M33', 'ICD9CM:710.3', 'MESH:D003882', 'NCI:C26744', 'SNOMEDCT_US_2022_09_01:38826005', 'UMLS_CUI:C0011633']",['DOID:633']
5819,1023,borderline leprosy,"""A leprosy that results in small numerous red irregularly shaped plaques."" [url:http\://en.wikipedia.org/wiki/Borderline_leprosy]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD10CM:A30.3', 'ICD9CM:030.3', 'MESH:D015439', 'SNOMEDCT_US_2022_09_01:50521002', 'UMLS_CUI:C0023346']",['DOID:1024']
5822,10235,Brown's tendon sheath syndrome,"""A mechanical strabismus that is characterized by impairment of eye movements."" [url:https\://rarediseases.org/rare-diseases/brown-syndrome/]",['DO_rare_slim'],"['GARD:5963', 'ICD10CM:H50.61', 'ICD9CM:378.61', 'MESH:D015835', 'SNOMEDCT_US_2022_09_01:35929003', 'UMLS_CUI:C0155339']",['DOID:9306']
5823,10236,exhibitionism,"""A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger."" [url:https\://www.britannica.com/topic/exhibitionism]",['NCIthesaurus'],"['ICD10CM:F65.2', 'ICD9CM:302.4', 'MESH:D005084', 'NCI:C94352', 'SNOMEDCT_US_2022_09_01:192514003', 'UMLS_CUI:C0015269']",['DOID:0060044']
5824,1024,leprosy,"""A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage."" [url:http\://en.wikipedia.org/wiki/Leprosy]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['EFO:0001054', 'GARD:6886', 'ICD10CM:A30', 'ICD9CM:030', 'MESH:D007918', 'NCI:C84824', 'OMIM:607572', 'OMIM:609888', 'OMIM:613407', 'ORDO:548', 'SNOMEDCT_US_2022_09_01:154298007', 'UMLS_CUI:C0023343']",['DOID:0050338']
5825,10241,thalassemia,"""A hemolytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11283697]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7756', 'ICD10CM:D56', 'ICD9CM:282.4', 'MESH:D013789', 'NCI:C35069', 'SNOMEDCT_US_2022_09_01:191192008', 'UMLS_CUI:C0039730']",['DOID:583']
5826,10242,ehrlichiosis,"""A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash."" [url:http\://en.wikipedia.org/wiki/Ehrlichiosis]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'tick-borne_infectious_disease']","['GARD:2092', 'ICD10CM:A77.4', 'ICD9CM:082.4', 'MESH:D016873', 'SNOMEDCT_US_2022_09_01:77361002', 'UMLS_CUI:C0085399']",['DOID:0050338']
5828,1025,tuberculoid leprosy,"""A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center."" [url:http\://en.wikipedia.org/wiki/Tuberculoid_leprosy]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD10CM:A30.1', 'ICD9CM:030.1', 'MESH:D015441', 'SNOMEDCT_US_2022_09_01:70143003', 'UMLS_CUI:C0023351']",['DOID:1024']
5829,10250,louping ill,"""A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15606630]","['DO_infectious_disease_slim', 'tick-borne_infectious_disease']","['ICD10CM:A84.89', 'ICD9CM:063.1', 'MESH:D008146', 'SNOMEDCT_US_2022_09_01:59350003', 'UMLS_CUI:C0024025']",['DOID:934']
5831,10261,otorrhea,"""An auditory system disease that is characterized by the discharge or drainage of fluid from the ear."" [url:https\://medlineplus.gov/ency/article/003042.htm]",['NCIthesaurus'],"['ICD10CM:H92.1', 'ICD9CM:388.6', 'NCI:C35199', 'SNOMEDCT_US_2022_09_01:300132001', 'UMLS_CUI:C0155540']",['DOID:2742']
5832,10264,mumps,"""A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus, which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face."" [url:http\://www.cdc.gov/mumps/about/downloads/mumps-factsheet.pdf]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7116', 'ICD10CM:B26', 'ICD9CM:072', 'MESH:D009107', 'NCI:C29888', 'SNOMEDCT_US_2022_09_01:154352008', 'UMLS_CUI:C0026780']",['DOID:934']
5835,10273,heart conduction disease,"""A cardiovascular system disease that involves the heart's electrical conduction system."" [url:http\://en.wikipedia.org/wiki/Conduction_system_of_the_heart]",['DO_RAD_slim'],"['ICD9CM:426.6', 'SNOMEDCT_US_2022_09_01:195053008', 'UMLS_CUI:C0029630']",['DOID:114']
5836,10283,prostate cancer,"""A male reproductive organ cancer that is located_in the prostate."" [url:http\://www.cancer.gov/dictionary?CdrID=445079]","['DO_cancer_slim', 'DO_CFDE_slim', 'DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C61', 'ICD9CM:185', 'KEGG:05215', 'MESH:D011471', 'NCI:C3343', 'NCI:C7378', 'OMIM:176807', 'OMIM:300147', 'OMIM:300704', 'OMIM:601518', 'OMIM:602759', 'OMIM:608656', 'OMIM:608658', 'OMIM:609299', 'OMIM:609558', 'OMIM:610321', 'OMIM:610997', 'OMIM:611100', 'OMIM:611868', 'OMIM:611928', 'OMIM:611955', 'OMIM:611958', 'OMIM:611959', 'ORDO:1331', 'SNOMEDCT_US_2022_09_01:126906006', 'SNOMEDCT_US_2022_09_01:93974005', 'UMLS_CUI:C0033578', 'UMLS_CUI:C0376358']",['DOID:3856']
5837,10286,prostate carcinoma,"""A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:http\://en.wikipedia.org/wiki/Carcinoma]","['DO_cancer_slim', 'DO_RAD_slim', 'NCIthesaurus']","['EFO:0001663', 'KEGG:05215', 'NCI:C4863', 'SNOMEDCT_US_2022_09_01:254900004', 'UMLS_CUI:C0600139']",['DOID:10283']
5838,10287,prostate squamous cell carcinoma,"""A squamous cell carcinoma that is located_in the prostate."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23877521]",['NCIthesaurus'],"['NCI:C5536', 'SNOMEDCT_US_2022_09_01:399590005', 'UMLS_CUI:C1302530']",['DOID:10286']
5839,10289,prostate malignant phyllodes tumor,"""A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland."" [url:https\://www.hindawi.com/journals/jo/2009/241270/]",['NCIthesaurus'],"['MESH:C549759', 'NCI:C5531', 'UMLS_CUI:C1334615']",['DOID:10283']
5840,1029,familial periodic paralysis,"""A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells."" [url:https\://www.cedars-sinai.org/health-library/diseases-and-conditions/p/periodic-paralysis.html, url:https\://www.ninds.nih.gov/Disorders/All-Disorders/Familial-Periodic-Paralyses-Information-Page]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6422', 'ICD10CM:G72.3', 'MESH:D010245', 'NCI:C84709', 'SNOMEDCT_US_2022_09_01:193241004', 'UMLS_CUI:C0030443']",['DOID:896']
5841,10290,prostate lymphoma,"""A prostate cancer that affects lymphocytes and arises from the prostate gland."" [url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6614933/]",['NCIthesaurus'],"['NCI:C5533', 'UMLS_CUI:C1335512']",['DOID:10283']
5844,10301,parotitis,"""A parotid disease characterized by the inflammation of one or both parotid glands."" [url:http\://en.wikipedia.org/wiki/Parotitis]",['NCIthesaurus'],"['ICD10CM:K11.2', 'MESH:D010309', 'NCI:C114281', 'SNOMEDCT_US_2022_09_01:196481002', 'UMLS_CUI:C0030583']",['DOID:10302']
5846,10303,sialadenitis,"""A salivary gland disease that is characterized as an infection of the salivary glands."" [url:https\://rarediseases.info.nih.gov/diseases/7638/sialadenitis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7638', 'ICD10CM:K11.2', 'ICD9CM:527.2', 'MESH:D012793', 'NCI:C26882', 'SNOMEDCT_US_2022_09_01:42982001', 'UMLS_CUI:C0037023']",['DOID:10854']
5847,10310,viral meningitis,"""A meningitis that has_material_basis_in a viral infection."" [url:https\://en.wikipedia.org/wiki/Viral_meningitis]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:A87', 'ICD9CM:047.9', 'MESH:D008587', 'NCI:C118298', 'SNOMEDCT_US_2022_09_01:154321007', 'UMLS_CUI:C0025297']",['DOID:9471']
5848,10314,endocarditis,"""A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves."" [url:http\://en.wikipedia.org/wiki/Endocarditis, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/endo/]",['NCIthesaurus'],"['ICD10CM:I33.9', 'ICD9CM:421.9', 'MESH:D004696', 'NCI:C34582', 'NCI:C35432', 'SNOMEDCT_US_2022_09_01:56819008', 'SNOMEDCT_US_2022_09_01:91357005', 'UMLS_CUI:C0014118', 'UMLS_CUI:C0375268']",['DOID:0050825']
5849,10316,pneumoconiosis,"""An interstitial lung disease that is caused by the inhalation of dust."" [url:http\://en.wikipedia.org/wiki/Pneumoconiosis]",['NCIthesaurus'],"['ICD10CM:J64', 'ICD9CM:505', 'MESH:D011009', 'NCI:C26861', 'SNOMEDCT_US_2022_09_01:196004000', 'UMLS_CUI:C0032273']",['DOID:3082']
5850,10319,mixed mineral dust pneumoconiosis,"""A pneumoconiosis caused by the inhalation of mixed mineral dust particles."" [url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6928373/]",['NCIthesaurus'],"['NCI:C27559', 'SNOMEDCT_US_2022_09_01:233759002', 'UMLS_CUI:C0340184']",['DOID:10316']
5851,10320,asbestosis,"""A pneumoconiosis caused by inhalation and retention of asbestos fibers."" [url:http\://en.wikipedia.org/wiki/Asbestosis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5852', 'ICD10CM:J61', 'ICD9CM:501', 'MESH:D001195', 'NCI:C84573', 'SNOMEDCT_US_2022_09_01:266400008', 'UMLS_CUI:C0003949']",['DOID:10316']
5852,10321,baritosis,"""A pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops."" [url:https\://rarediseases.info.nih.gov/diseases/8371/baritosis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8371', 'MESH:C537080', 'NCI:C34410', 'SNOMEDCT_US_2022_09_01:50076003', 'UMLS_CUI:C0340177']",['DOID:10316']
5854,10323,byssinosis,"""A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767605/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5976', 'ICD10CM:J66.0', 'MESH:D002095', 'NCI:C84605', 'SNOMEDCT_US_2022_09_01:155589004', 'UMLS_CUI:C0006542']",['DOID:10316']
5855,10324,anthracosilicosis,"""A pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath and induces fibrous nodule formation in the lung."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765255/]",['NCIthesaurus'],"['ICD10CM:J60', 'MESH:D000874', 'NCI:C34389', 'SNOMEDCT_US_2022_09_01:33548005', 'UMLS_CUI:C0003164']",['DOID:10316']
5856,10325,silicosis,"""A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles."" [url:http\://en.wikipedia.org/wiki/Silicosis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7647', 'ICD10CM:J62.8', 'ICD9CM:502', 'MESH:D012829', 'NCI:C3369', 'SNOMEDCT_US_2022_09_01:155590008', 'UMLS_CUI:C0037116']",['DOID:10316']
5858,10327,anthracosis,"""A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386010/]",['NCIthesaurus'],"['ICD10CM:J60', 'ICD9CM:500', 'MESH:D055008', 'NCI:C34390', 'SNOMEDCT_US_2022_09_01:29422001', 'UMLS_CUI:C0003165']",['DOID:10316']
5859,10328,siderosis,"""A pneumoconiosis that is characterized by the deposition of excess iron in body tissue resulting from inhalation of iron in the mining dust or welding fumes."" [url:https\://en.wikipedia.org/wiki/Siderosis]",['DO_rare_slim'],"['GARD:7645', 'ICD10CM:J63.4', 'MESH:D012806', 'SNOMEDCT_US_2022_09_01:155591007', 'UMLS_CUI:C0037061']",['DOID:10316']
5860,10329,pulmonary talcosis,"""A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc."" [url:https\://diagnosticpathology.biomedcentral.com/articles/10.1186/1746-1596-7-26, url:https\://pubmed.ncbi.nlm.nih.gov/34390717/, url:https\://pubmed.ncbi.nlm.nih.gov/34401315/, url:https\://radiopaedia.org/articles/talcosis-1]",['NCIthesaurus'],"['ICD10CM:J62.0', 'NCI:C27026', 'SNOMEDCT_US_2022_09_01:73144008', 'UMLS_CUI:C0238377']",['DOID:10316']
5861,10330,slate pneumoconiosis,"""A pneumoconiosis that is caused by exposure to slate dust."" [url:https\://academic.oup.com/occmed/article/67/1/20/2420658, url:https\://pubmed.ncbi.nlm.nih.gov/7426466/]",['NCIthesaurus'],"['NCI:C35397', 'SNOMEDCT_US_2022_09_01:1259003', 'UMLS_CUI:C0340186']",['DOID:10316']
5862,10331,kaolin pneumoconiosis,"""A pneumoconiosis that is caused by inhalation of kaolin dust."" [url:https\://www.amjmed.com/article/S0002-9343%2820%2930716-6/fulltext]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8355', 'NCI:C35315', 'SNOMEDCT_US_2022_09_01:36696005', 'UMLS_CUI:C0264435']",['DOID:10316']
5865,10348,blepharophimosis,"""An eyelid disease that is characterized by abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids."" [url:https\://en.wikipedia.org/wiki/Blepharophimosis]",['DO_rare_slim'],"['GARD:5932', 'ICD10CM:H02.52', 'ICD9CM:374.46', 'MESH:D016569', 'UMLS_CUI:C0005744']",['DOID:530']
5866,10349,solitary cyst of breast,"""A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14223874]",['NCIthesaurus'],"['ICD10CM:N60.0', 'ICD9CM:610.0', 'NCI:C3378', 'SNOMEDCT_US_2022_09_01:270538000', 'UMLS_CUI:C0037619']",['DOID:10350']
5867,1035,aggressive NK-cell leukemia,"""A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen."" [url:https\://en.wikipedia.org/wiki/Aggressive_NK-cell_leukemia, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C8647, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191480/]",['NCIthesaurus'],"['ICD10CM:C94.8', 'ICDO:9948/3', 'NCI:C8647', 'SNOMEDCT_US_2022_09_01:128833001', 'UMLS_CUI:C1292777']",['DOID:1240']
5868,10350,breast cyst,"""A breast benign neoplasm that is characterized by a fluid-filled sac."" [url:https\://en.wikipedia.org/wiki/Breast_cyst]",['NCIthesaurus'],"['ICD10CM:N60.0', 'MESH:D047688', 'NCI:C5315', 'SNOMEDCT_US_2022_09_01:56726003', 'UMLS_CUI:C0006144']",['DOID:0060082']
5870,10353,fibrosclerosis of breast,"""A non-proliferative fibrocystic change of the breast that contains scar tissue."" [url:https\://en.wikipedia.org/wiki/Fibrosclerosis_of_breast]",['NCIthesaurus'],"['ICD10CM:N60.3', 'ICD9CM:610.3', 'NCI:C3660', 'SNOMEDCT_US_2022_09_01:29070004', 'UMLS_CUI:C0156318']",['DOID:5997']
5871,10354,breast fibrocystic disease,"""A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/3511705]",['NCIthesaurus'],"['ICD10CM:N60.1', 'ICD9CM:610.1', 'MESH:D005348', 'NCI:C3039', 'SNOMEDCT_US_2022_09_01:198091009', 'UMLS_CUI:C0016034']",['DOID:0060082']
5872,1036,chronic leukemia,"""A leukemia that develops slowly."" [url:http\://www.nlm.nih.gov/medlineplus/leukemiaadultchronic.html]","['DO_cancer_slim', 'NCIthesaurus']",['NCI:C3483'],['DOID:1240']
5873,10361,eosinophilic meningitis,"""A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microL in the cerebrospinal fluid (CSF) or a CSF eosinophilia of at least 10 percent. Symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch."" [url:https\://pubmed.ncbi.nlm.nih.gov/31972289/]",['NCIthesaurus'],"['ICD9CM:322.1', 'NCI:C128374', 'SNOMEDCT_US_2022_09_01:25671008', 'UMLS_CUI:C0154652']",['DOID:10341']
5874,10366,epididymis cancer,"""A male reproductive organ cancer that is located in the epididymis."" [url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3720153/]",['NCIthesaurus'],"['ICD10CM:C63.0', 'ICD9CM:187.5', 'NCI:C3558', 'SNOMEDCT_US_2022_09_01:363452003', 'UMLS_CUI:C0153602']",['DOID:3856']
5875,10368,epididymis adenocarcinoma,"""An epididymis cancer that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C39957', 'UMLS_CUI:C1510784']",['DOID:10366']
5876,1037,lymphoid leukemia,"""A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood."" [url:http\://www.cancer.gov/dictionary?CdrID=616067]","['DO_cancer_slim', 'DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:C91', 'ICD9CM:204', 'ICDO:9820/3', 'MESH:D007945', 'NCI:C7539', 'SNOMEDCT_US_2022_09_01:93170002', 'UMLS_CUI:C0023448']",['DOID:1240']
5877,10371,yaws,"""A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions."" [url:http\://en.wikipedia.org/wiki/Yaws, url:http\://www.who.int/mediacentre/factsheets/fs316/en/]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus']","['GARD:7913', 'ICD10CM:A66', 'ICD9CM:102', 'MESH:D015001', 'NCI:C41353', 'SNOMEDCT_US_2022_09_01:266213004', 'UMLS_CUI:C0043388']",['DOID:0050338']
5879,10376,amblyopia,"""An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward."" [url:https\://en.wikipedia.org/wiki/Amblyopia, url:https\://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/amblyopia-lazy-eye]",['NCIthesaurus'],"['ICD10CM:H53.00', 'ICD9CM:368.00', 'MESH:D000550', 'NCI:C118764', 'SNOMEDCT_US_2022_09_01:155145007', 'UMLS_CUI:C0002418']",['DOID:5614']
5883,1039,prolymphocytic leukemia,"""A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen."" [url:https\://cancer.ca/en/cancer-information/cancer-types/non-hodgkin-lymphoma/what-is-non-hodgkin-lymphoma/prolymphocytic-leukemias]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['ICDO:9832/3', 'MESH:D015463', 'NCI:C3181', 'SNOMEDCT_US_2022_09_01:110006004', 'UMLS_CUI:C0023486']",['DOID:1040']
5885,10398,pneumonic plague,"""A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing."" [url:https\://en.wikipedia.org/wiki/Pneumonic_plague]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A20.2', 'ICD9CM:020.3', 'ICD9CM:020.4', 'ICD9CM:020.5', 'MESH:D010930', 'SNOMEDCT_US_2022_09_01:35339003', 'SNOMEDCT_US_2022_09_01:38976008', 'SNOMEDCT_US_2022_09_01:67525007', 'UMLS_CUI:C0152937', 'UMLS_CUI:C0152938', 'UMLS_CUI:C0524688']",['DOID:3482']
5887,104,bacterial infectious disease,"""A disease by infectious agent that results_in infection, has_material_basis_in Bacteria."" [url:http\://en.wikipedia.org/wiki/Pathogenic_bacteria]","['DO_AGR_slim', 'DO_FlyBase_slim', 'DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:A49.9', 'MESH:D001424', 'NCI:C2890', 'SNOMEDCT_US_2022_09_01:87628006', 'UMLS_CUI:C0004623']",['DOID:0050117']
5888,1040,chronic lymphocytic leukemia,"""A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood."" [url:http\://en.wikipedia.org/wiki/B-cell_chronic_lymphocytic_leukemia, url:http\://www.cancer.gov/dictionary?cdrid=346545]","['DO_cancer_slim', 'DO_RAD_slim', 'DO_rare_slim', 'NCIthesaurus']","['EFO:0000095', 'GARD:6104', 'ICD10CM:C91.10', 'ICD9CM:204.1', 'MESH:D015451', 'NCI:C3163', 'OMIM:109543', 'OMIM:151400', 'OMIM:609630', 'OMIM:612557', 'OMIM:612558', 'OMIM:612559', 'ORDO:67038', 'SNOMEDCT_US_2022_09_01:51092000', 'UMLS_CUI:C0023434']",['DOID:1037']
5891,10426,Klippel-Feil syndrome,"""A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra."" [url:http\://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome, url:http\://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm, url:http\://www.wheelessonline.com/ortho/klippel_feil_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10280', 'ICD10CM:Q76.1', 'ICD9CM:756.16', 'MESH:D007714', 'NCI:C98967', 'OMIM:PS118100', 'ORDO:2345', 'SNOMEDCT_US_2022_09_01:268349005', 'UMLS_CUI:C0022738']",['DOID:0080015']
5901,10456,tonsillitis,"""An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills."" [url:http\://en.wikipedia.org/wiki/Tonsillitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tonsillitis]",['NCIthesaurus'],"['ICD10CM:J35.01', 'ICD9CM:474.00', 'MESH:D014069', 'NCI:C116006', 'SNOMEDCT_US_2022_09_01:195665006', 'SNOMEDCT_US_2022_09_01:195794009', 'UMLS_CUI:C0040425', 'UMLS_CUI:C0149517']",['DOID:974']
5902,10457,Legionnaires' disease,"""A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough."" [url:http\://en.wikipedia.org/wiki/Legionellosis]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus']","['ICD10CM:A48.1', 'ICD9CM:482.84', 'MESH:D007877', 'NCI:C128339', 'SNOMEDCT_US_2022_09_01:195889001', 'UMLS_CUI:C0023241']",['DOID:10458']
5903,10458,legionellosis,"""A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea."" [url:http\://en.wikipedia.org/wiki/Legionellosis, url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm4934a1.htm]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus']","['MESH:D007876', 'NCI:C128334', 'SNOMEDCT_US_2022_09_01:26726000', 'UMLS_CUI:C0023240']",['DOID:0050338']
5904,10459,common cold,"""An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=common%20cold]",['NCIthesaurus'],"['ICD10CM:J00', 'ICD9CM:460', 'MESH:D003139', 'NCI:C34500', 'SNOMEDCT_US_2022_09_01:195648002', 'UMLS_CUI:C0009443']",['DOID:974']
5905,10460,nasopharyngitis,"""A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx."" [url:http\://medical-dictionary.thefreedictionary.com/nasopharyngitis, url:http\://www.merriam-webster.com/medical/nasopharyngitis]",['NCIthesaurus'],"['ICD10CM:J00', 'ICD10CM:J31.1', 'ICD9CM:472.2', 'MESH:D009304', 'NCI:C34837', 'SNOMEDCT_US_2022_09_01:155524006', 'SNOMEDCT_US_2022_09_01:51476001', 'UMLS_CUI:C0027441', 'UMLS_CUI:C0155826']",['DOID:9561']
5912,10487,Hirschsprung's disease,"""A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel."" [url:http\://en.wikipedia.org/wiki/Hirschsprung%27s_disease, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001140.htm, url:http\://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6660', 'ICD10CM:Q43.1', 'MESH:D006627', 'NCI:C34700', 'OMIM:600156', 'OMIM:606874', 'OMIM:606875', 'OMIM:608462', 'OMIM:611644', 'ORDO:388', 'SNOMEDCT_US_2022_09_01:204739008', 'UMLS_CUI:C0019569']",['DOID:11372']
5919,10519,chronic fungal otitis externa,"""A otomycosis which is persistent and long-lasting or recurrent."" [url:http\://www.scielo.br/pdf/bjorl/v75n3/v75n3a10.pdf]",['DO_infectious_disease_slim'],"['ICD9CM:380.15', 'SNOMEDCT_US_2022_09_01:111898002', 'UMLS_CUI:C0155396']",['DOID:0050147']
5923,10533,viral pneumonia,"""A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus."" [url:http\://en.wikipedia.org/wiki/Pneumonia]",['DO_infectious_disease_slim'],"['ICD10CM:J12.9', 'ICD9CM:480', 'MESH:D011024', 'SNOMEDCT_US_2022_09_01:195880002', 'UMLS_CUI:C0032310']",['DOID:552']
5924,10534,stomach cancer,"""A gastrointestinal system cancer that is located_in the stomach."" [url:http\://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer, url:http\://en.wikipedia.org/wiki/Stomach]","['DO_cancer_slim', 'DO_CFDE_slim', 'DO_FlyBase_slim', 'DO_RAD_slim', 'DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['GARD:7704', 'ICD10CM:C16', 'ICD10CM:C16.2', 'ICD10CM:C16.5', 'ICD10CM:C16.6', 'ICD9CM:151', 'ICD9CM:151.4', 'ICD9CM:151.5', 'ICD9CM:151.6', 'MESH:D013274', 'NCI:C3387', 'NCI:C9331', 'OMIM:613659', 'SNOMEDCT_US_2022_09_01:126824007', 'SNOMEDCT_US_2022_09_01:269459004', 'SNOMEDCT_US_2022_09_01:269460009', 'SNOMEDCT_US_2022_09_01:93717002', 'SNOMEDCT_US_2022_09_01:94074003', 'UMLS_CUI:C0024623', 'UMLS_CUI:C0038356', 'UMLS_CUI:C0153421', 'UMLS_CUI:C0153422', 'UMLS_CUI:C0153423']",['DOID:3119']
5933,10554,meningoencephalitis,"""A central nervous system disease that involves encephalitis which occurs along with meningitis."" [url:http\://en.wikipedia.org/wiki/Encephalitis]",['NCIthesaurus'],"['ICD10CM:A69.22', 'MESH:D008590', 'NCI:C34813', 'SNOMEDCT_US_2022_09_01:7125002', 'UMLS_CUI:C0025309']",['DOID:331']
5935,1056,oculocerebrorenal syndrome,"""A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney."" [url:https\://ghr.nlm.nih.gov/condition/lowe-syndrome, url:https\://www.omim.org/entry/309000]","['DO_rare_slim', 'NCIthesaurus']","['GARD:3295', 'ICD10CM:E72.03', 'MEDDRA:10051707', 'MESH:D009800', 'NCI:C84940', 'OMIM:309000', 'ORDO:534', 'SNOMEDCT_US_2022_09_01:79385002', 'UMLS_CUI:C0028860']",['DOID:225']
5936,10567,late yaws,"""A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis."" [url:https\://www.who.int/neglected_diseases/diseases/yaws/en/]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus']","['ICD10CM:A66.1', 'ICD10CM:A66.4', 'ICD9CM:102.1', 'ICD9CM:102.4', 'NCI:C41354', 'SNOMEDCT_US_2022_09_01:186968004', 'UMLS_CUI:C0153234', 'UMLS_CUI:C0276007', 'UMLS_CUI:C1517744']",['DOID:10371']
5937,10568,early yaws,"""A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur."" [url:http\://www.who.int/mediacentre/factsheets/fs316/en/]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus']","['ICD10CM:A66.0', 'ICD10CM:A66.6', 'ICD9CM:102.0', 'ICD9CM:102.6', 'NCI:C41352', 'SNOMEDCT_US_2022_09_01:23191004', 'SNOMEDCT_US_2022_09_01:266147005', 'SNOMEDCT_US_2022_09_01:49442000', 'UMLS_CUI:C0275990', 'UMLS_CUI:C0275998', 'UMLS_CUI:C0343834']",['DOID:10371']
5938,10573,osteomalacia,"""A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone."" [url:http\://en.wikipedia.org/wiki/Osteomalacia, url:http\://my.clevelandclinic.org/disorders/osteomalacia/hic_osteomalacia.aspx, url:http\://www.mayoclinic.com/health/osteomalacia/DS00935, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000376.htm, url:http\://www.wheelessonline.com/ortho/osteomalacia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7285', 'ICD9CM:268.2', 'NCI:C26838', 'SNOMEDCT_US_2022_09_01:190639009', 'UMLS_CUI:C0029442']",['DOID:0080005']
5940,10579,leukodystrophy,"""A cerebral degeneration characterized by dysfunction of the white matter of the brain."" [url:http\://en.wikipedia.org/wiki/Leukodystrophy]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6895', 'ICD9CM:330.0', 'NCI:C61253', 'SNOMEDCT_US_2022_09_01:5101009', 'UMLS_CUI:C0023520']",['DOID:1443']
5941,10581,metachromatic leukodystrophy,"""A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system."" [url:http\://en.wikipedia.org/wiki/Metachromatic_leukodystrophy, url:http\://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy]","['DO_rare_slim', 'NCIthesaurus']","['GARD:3230', 'ICD10CM:E75.25', 'MESH:D007966', 'NCI:C61251', 'OMIM:249900', 'OMIM:250100', 'ORDO:512', 'SNOMEDCT_US_2022_09_01:3621006', 'UMLS_CUI:C0023522']",['DOID:1927']
5942,10582,Refsum disease,"""A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues."" [url:https\://en.wikipedia.org/wiki/Refsum_disease, url:https\://medlineplus.gov/genetics/condition/refsum-disease/, url:https\://pubmed.ncbi.nlm.nih.gov/30578512/, url:https\://rarediseases.org/rare-diseases/refsum-disease/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5691', 'ICD10CM:G60.1', 'ICD9CM:356.3', 'MESH:D012035', 'NCI:C85043', 'OMIM:266500', 'ORDO:773', 'SNOMEDCT_US_2022_09_01:25362006', 'UMLS_CUI:C0034960']",['DOID:3146']
5943,10584,retinitis pigmentosa,"""A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss."" [url:http\://en.wikipedia.org/wiki/Retinitis_pigmentosa, url:http\://ghr.nlm.nih.gov/condition/retinitis-pigmentosa, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:5694', 'ICD10CM:H35.52', 'MESH:C538365', 'MESH:D012174', 'NCI:C85045', 'OMIM:PS268000', 'ORDO:791', 'SNOMEDCT_US_2022_09_01:155113002', 'UMLS_CUI:C0035334', 'UMLS_CUI:C0220701']",['DOID:8466']
5945,10588,adrenoleukodystrophy,"""A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death."" [url:http\://en.wikipedia.org/wiki/Adrenoleukodystrophy, url:https\://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy]",['NCIthesaurus'],"['ICD10CM:E71.52', 'MESH:D000326', 'NCI:C61252', 'OMIM:300100', 'SNOMEDCT_US_2022_09_01:65389002', 'UMLS_CUI:C0162309']",['DOID:10579']
5946,1059,intellectual disability,"""A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills."" [url:http\://aaidd.org/intellectual-disability/definition#.WsPDT2VvqaU, url:https\://en.wikipedia.org/wiki/Intellectual_disability]","['DO_FlyBase_slim', 'NCIthesaurus']","['NCI:C84392', 'SNOMEDCT_US_2022_09_01:1855002', 'UMLS_CUI:C0025362']",['DOID:0060038']
5948,10591,pre-eclampsia,"""A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy."" [url:http\://en.wikipedia.org/wiki/Pre-eclampsia, url:http\://ghr.nlm.nih.gov/condition/preeclampsia, url:https\://www.ncbi.nlm.nih.gov/pubmed/24400024]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:O14', 'MESH:D011225', 'NCI:C85021', 'OMIM:189800', 'OMIM:609402', 'OMIM:609403', 'OMIM:609404', 'OMIM:614592', 'ORDO:275555', 'SNOMEDCT_US_2022_09_01:6758009', 'UMLS_CUI:C0032914']",['DOID:10763']
5950,10595,Charcot-Marie-Tooth disease,"""A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm."" [url:https\://www.genome.gov/11009201]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6034', 'ICD10CM:G60.0', 'ICD9CM:356.1', 'MESH:D002607', 'NCI:C75467', 'OMIM:PS118220', 'SNOMEDCT_US_2022_09_01:193158000', 'UMLS_CUI:C0007959']",['DOID:440']
5951,106,pleural tuberculosis,"""An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17426219]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['ICD10CM:A15.6', 'ICD9CM:010.1', 'ICD9CM:012.0', 'MESH:D014396', 'NCI:C26898', 'SNOMEDCT_US_2022_09_01:186172004', 'SNOMEDCT_US_2022_09_01:68706009', 'UMLS_CUI:C0041326', 'UMLS_CUI:C0152531']",['DOID:0050598']
5952,1060,Hartnup disease,"""An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hartnup]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6569', 'ICD10CM:E72.02', 'MESH:D006250', 'NCI:C84748', 'OMIM:234500', 'SNOMEDCT_US_2022_09_01:80902009', 'UMLS_CUI:C0018609']",['DOID:9252']
5953,10600,chronic tic disorder,"""A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year."" [url:http\://en.wikipedia.org/wiki/Tic_disorder]",['NCIthesaurus'],"['ICD10CM:F95.1', 'ICD9CM:307.22', 'MESH:D013981', 'NCI:C116768', 'SNOMEDCT_US_2022_09_01:192623005', 'UMLS_CUI:C0008701']",['DOID:2769']
5955,10604,lactose intolerance,"""A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose."" [url:https\://medlineplus.gov/genetics/condition/lactose-intolerance/]",['NCIthesaurus'],"['ICD10CM:E73', 'MESH:D007787', 'NCI:C3154', 'OMIM:223100', 'SNOMEDCT_US_2022_09_01:267497007', 'UMLS_CUI:C0022951']",['DOID:2978']
5956,10605,short bowel syndrome,"""An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine."" [url:https\://rarediseases.org/rare-diseases/short-bowel-syndrome/]",['NCIthesaurus'],"['MESH:D012778', 'NCI:C99059', 'SNOMEDCT_US_2022_09_01:204768009', 'UMLS_CUI:C0036992']",['DOID:5295']
5957,10606,blind loop syndrome,"""An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption."" [url:https\://en.wikipedia.org/wiki/Blind_loop_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/20572300]",['NCIthesaurus'],"['ICD10CM:K90.2', 'ICD9CM:579.2', 'MESH:D001765', 'NCI:C34431', 'SNOMEDCT_US_2022_09_01:77225009', 'UMLS_CUI:C0005750']",['DOID:5295']
5959,10608,celiac disease,"""An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite."" [url:http\://en.wikipedia.org/wiki/Coeliac_disease, url:http\://www.celiac.org/, url:http\://www.mayoclinic.com/health/celiac-disease/DS00319, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000233.htm, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/celiac-disease]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0001060', 'GARD:11998', 'ICD10CM:K90.0', 'ICD9CM:579.0', 'MESH:D002446', 'NCI:C26714', 'OMIM:607202', 'OMIM:609754', 'OMIM:611598', 'OMIM:612005', 'OMIM:612006', 'OMIM:612007', 'OMIM:612008', 'OMIM:612009', 'OMIM:612011', 'ORDO:555', 'SNOMEDCT_US_2022_09_01:197477005', 'UMLS_CUI:C0007570']",['DOID:0060031']
5960,10609,rickets,"""A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone."" [url:http\://en.wikipedia.org/wiki/Rickets, url:http\://www.mayoclinic.com/health/rickets/DS00813, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000344.htm, url:http\://www.umm.edu/ency/article/000344.htm, url:https\://en.wikipedia.org/wiki/Rickets#Types, url:https\://www.ncbi.nlm.nih.gov/pubmed/26365554]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5700', 'ICD10CM:E55.0', 'MESH:D012279', 'NCI:C26878', 'SNOMEDCT_US_2022_09_01:190639009', 'UMLS_CUI:C0035579']",['DOID:0080005']
5965,10616,acute cervicitis,"""A cervicitis that is characterized by onset within the past 1 - 3 days."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23606387]",['NCIthesaurus'],"['NCI:C27056', 'SNOMEDCT_US_2022_09_01:19272000', 'UMLS_CUI:C0269061']",['DOID:2568']
5966,10619,lymph node cancer,"""A lymphatic system cancer that is located_in the lymph node."" [url:http\://www.cancer.org/cancer/cancerbasics/lymph-nodes-and-cancer]","['DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['GARD:6932', 'NCI:C35497', 'SNOMEDCT_US_2022_09_01:127232002', 'UMLS_CUI:C0596869']",['DOID:0060073']
5967,1062,Fanconi syndrome,"""A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting."" [url:http\://en.wikipedia.org/wiki/Fanconi_syndrome, url:http\://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000333.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9118', 'MESH:D005198', 'NCI:C3034', 'NCI:C4377', 'OMIM:PS134600', 'ORDO:3337', 'SNOMEDCT_US_2022_09_01:236468006', 'SNOMEDCT_US_2022_09_01:40488004', 'UMLS_CUI:C0015624', 'UMLS_CUI:C0341703']",['DOID:447']
5969,10629,microphthalmia,"""An eye disease where one or both eyeballs are abnormally small."" [url:http\://en.wikipedia.org/wiki/Microphthalmia, url:http\://ghr.nlm.nih.gov/condition/microphthalmia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:12085', 'ICD10CM:Q11.2', 'ICD9CM:743.1', 'MESH:D008850', 'NCI:C98989', 'SNOMEDCT_US_2022_09_01:156902006', 'UMLS_CUI:C0026010']",['DOID:5614']
5972,10632,Wolfram syndrome,"""A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness."" [url:http\://en.wikipedia.org/wiki/Wolfram_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7898', 'MESH:D014929', 'NCI:C35133', 'ORDO:3463', 'SNOMEDCT_US_2022_09_01:70694009', 'UMLS_CUI:C0043207']",['DOID:225']
5973,1064,cystinosis,"""A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17."" [url:http\://ghr.nlm.nih.gov/condition/cystinosis, url:https\://en.wikipedia.org/wiki/Cystinosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/12110740]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6236', 'MESH:D003554', 'NCI:C129932', 'OMIM:219750', 'OMIM:219800', 'OMIM:219900', 'ORDO:213', 'SNOMEDCT_US_2022_09_01:62332007', 'UMLS_CUI:C2931187']",['DOID:3211']
5974,10646,schizotypal personality disorder,"""A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs."" [url:http\://en.wikipedia.org/wiki/Schizotypal_personality_disorder]",['NCIthesaurus'],"['ICD10CM:F21', 'ICD9CM:301.22', 'MESH:D012569', 'NCI:C92632', 'SNOMEDCT_US_2022_09_01:231486008', 'UMLS_CUI:C0036363']",['DOID:1510']
5978,10652,Alzheimer's disease,"""A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid."" [url:http\://en.wikipedia.org/wiki/Alzheimer%27s_disease, url:http\://www.merriam-webster.com/medical/alzheimer%27s%20disease, url:http\://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-fact-sheet]","['DO_RAD_slim', 'DO_rare_slim', 'NCIthesaurus']","['EFO:0000249', 'GARD:10254', 'ICD10CM:G30', 'ICD9CM:331.0', 'KEGG:05010', 'MESH:D000544', 'NCI:C2866', 'SNOMEDCT_US_2022_09_01:73768007', 'UMLS_CUI:C0002395']",['DOID:680']
5983,10660,mediastinum neuroblastoma,"""A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells."" [url:http\://www.cancer.gov/dictionary?CdrID=45418]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6628', 'UMLS_CUI:C1334673']",['DOID:4691']
5985,1067,open-angle glaucoma,"""A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage."" [url:http\://en.wikipedia.org/wiki/Glaucoma, url:http\://www.merckmanuals.com/professional/eye_disorders/glaucoma/primary_open-angle_glaucoma.html]",['NCIthesaurus'],"['EFO:0004190', 'ICD10CM:H40.1', 'ICD9CM:365.1', 'MESH:D005902', 'NCI:C34641', 'OMIM:137750', 'OMIM:177700', 'OMIM:602429', 'OMIM:603383', 'OMIM:606689', 'OMIM:608695', 'OMIM:608696', 'OMIM:609745', 'OMIM:609887', 'OMIM:610535', 'OMIM:611274', 'OMIM:611276', 'OMIM:613100', 'SNOMEDCT_US_2022_09_01:84494001', 'UMLS_CUI:C0017612']",['DOID:1686']
5986,1068,juvenile glaucoma,"""A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures."" [url:https\://eyewiki.aao.org/Juvenile_open_angle_glaucoma, url:https\://ghr.nlm.nih.gov/condition/early-onset-glaucoma]",['DO_rare_slim'],"['OMIM:137750', 'ORDO:98977']",['DOID:1070']
5988,10686,lactocele,"""A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands."" [url:https\://en.wikipedia.org/wiki/Galactocele]",['NCIthesaurus'],"['ICD10CM:N64.89', 'ICD9CM:611.5', 'MESH:C535998', 'NCI:C3515', 'SNOMEDCT_US_2022_09_01:42385006', 'UMLS_CUI:C0152243']",['DOID:10350']
5989,10688,hypertrophy of breast,"""A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue."" [url:https\://en.wikipedia.org/wiki/Breast_hypertrophy]",['NCIthesaurus'],"['ICD10CM:N62', 'ICD9CM:611.1', 'NCI:C3125', 'SNOMEDCT_US_2022_09_01:43336006', 'UMLS_CUI:C0020565']",['DOID:3463']
5990,10690,mastitis,"""A breast disease characterized by painful infection of the breast tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25940456]",['NCIthesaurus'],"['MESH:D008413', 'NCI:C53662', 'SNOMEDCT_US_2022_09_01:155952005', 'UMLS_CUI:C0024894']",['DOID:3463']
5991,10691,fat necrosis of breast,"""A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury."" [url:https\://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/fat-necrosis-and-oil-cysts-in-the-breast.html]",['NCIthesaurus'],"['ICD10CM:N64.1', 'ICD9CM:611.3', 'NCI:C3661', 'SNOMEDCT_US_2022_09_01:21381006', 'UMLS_CUI:C0156321']",['DOID:3463']
5993,10699,paragonimiasis,"""A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected."" [url:http\://www.dpd.cdc.gov/dpdx/HTML/Paragonimiasis.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9815', 'ICD10CM:B66.4', 'ICD9CM:121.2', 'MESH:D010237', 'NCI:C84995', 'SNOMEDCT_US_2022_09_01:30369007', 'UMLS_CUI:C0030424']",['DOID:883']
5994,1070,primary open angle glaucoma,"""An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464971/]",['NCIthesaurus'],"['ICD10CM:H40.11', 'ICD9CM:365.11', 'MESH:D005902', 'NCI:C35394', 'OMIM:137760', 'SNOMEDCT_US_2022_09_01:77075001', 'UMLS_CUI:C0339573']",['DOID:1067']
5995,10718,giardiasis,"""A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting."" [url:http\://en.wikipedia.org/wiki/Giardiasis, url:http\://www.dpd.cdc.gov/DPDx/HTML/Giardiasis.htm]",['DO_infectious_disease_slim'],"['ICD10CM:A07.1', 'ICD9CM:007.1', 'MEDDRA:0017536', 'MESH:D005873', 'SNOMEDCT_US_2022_09_01:266176008', 'UMLS_CUI:C0017536']",['DOID:2789']
5998,1074,kidney failure,"""A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood."" [url:http\://en.wikipedia.org/wiki/Renal_failure, url:http\://www.nlm.nih.gov/medlineplus/kidneyfailure.html]",['NCIthesaurus'],"['ICD10CM:N19', 'ICD9CM:586', 'MESH:D051437', 'NCI:C4376', 'SNOMEDCT_US_2022_09_01:42399005', 'UMLS_CUI:C0035078']",['DOID:557']
6001,10754,otitis media,"""A otitis which involves inflammation of the middle ear."" [url:http\://en.wikipedia.org/wiki/Otitis_media]",['NCIthesaurus'],"['ICD10CM:H66.9', 'ICD9CM:382.9', 'MESH:D010033', 'NCI:C34885', 'SNOMEDCT_US_2022_09_01:65363002', 'UMLS_CUI:C0029882']",['DOID:5100']
6002,10755,petrositis,"""An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone."" [url:http\://medical-dictionary.thefreedictionary.com/petrositis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001254.htm]",['DO_infectious_disease_slim'],"['ICD10CM:H70.2', 'ICD10CM:H70.21', 'ICD10CM:H70.22', 'ICD9CM:383.2', 'ICD9CM:383.21', 'ICD9CM:383.22', 'MESH:D059270', 'SNOMEDCT_US_2022_09_01:155233009', 'SNOMEDCT_US_2022_09_01:28593007', 'SNOMEDCT_US_2022_09_01:51211002', 'UMLS_CUI:C0155448', 'UMLS_CUI:C0155449', 'UMLS_CUI:C0155450']",['DOID:1019']
6005,10763,hypertension,"""An artery disease characterized by chronic elevated blood pressure in the arteries."" [url:https\://en.wikipedia.org/wiki/Hypertension, url:https\://www.ncbi.nlm.nih.gov/pubmed/24352797]",['NCIthesaurus'],"['EFO:0000537', 'ICD10CM:I10', 'ICD9CM:401-405.99', 'MESH:D006973', 'NCI:C3117', 'SNOMEDCT_US_2022_09_01:38341003', 'UMLS_CUI:C0020538']",['DOID:0050828']
6007,10773,bubonic plague,"""A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration."" [url:https\://en.wikipedia.org/wiki/Bubonic_plague]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'zoonotic_infectious_disease']","['GARD:183', 'ICD10CM:A20.0', 'ICD9CM:020.0', 'MESH:D010930', 'SNOMEDCT_US_2022_09_01:50797007', 'UMLS_CUI:C0282312']",['DOID:3482']
6010,10780,primary polycythemia,"""A polycythemia that has_material_basis_in factors intrinsic to red cell precursors."" [url:https\://en.wikipedia.org/wiki/Polycythemia#Primary_polycythemia]",['NCIthesaurus'],"['ICD10CM:D75.0', 'ICD9CM:289.6', 'NCI:C26955', 'OMIM:PS133100', 'SNOMEDCT_US_2022_09_01:267571003', 'UMLS_CUI:C0152264']",['DOID:8432']
6014,10787,premature menopause,"""An ovarian dysfunction that is the loss of normal ovarian function before age 40."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26316242]",['NCIthesaurus'],"['ICD10CM:E28.31', 'ICD9CM:256.31', 'MESH:D008594', 'NCI:C80099', 'SNOMEDCT_US_2022_09_01:154713003', 'UMLS_CUI:C0025322']",['DOID:1414']
6015,1079,setariasis,"""A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria."" [url:http\://www.jstor.org/stable/pdfplus/3277411.pdf]","['DO_infectious_disease_slim', 'zoonotic_infectious_disease']","['MESH:D012719', 'SNOMEDCT_US_2022_09_01:4414005', 'UMLS_CUI:C0036850']",['DOID:1080']
6016,10790,chronic frontal sinusitis,"""A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage."" [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html]",['NCIthesaurus'],"['ICD10CM:J32.1', 'ICD9CM:473.1', 'NCI:C34473', 'SNOMEDCT_US_2022_09_01:155527004', 'UMLS_CUI:C0008683']",['DOID:10791']
6017,10791,frontal sinusitis,"""A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead."" [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html, url:http\://www3.niaid.nih.gov/topics/sinusitis/overview.htm]",['NCIthesaurus'],"['ICD10CM:J32.1', 'MESH:D015522', 'NCI:C34626', 'SNOMEDCT_US_2022_09_01:275485006', 'UMLS_CUI:C0016735']",['DOID:0050127']
6018,10792,chronic maxillary sinusitis,"""A maxillary sinusitis which lasts for 12 weeks or more."" [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html]",['NCIthesaurus'],"['ICD10CM:J32.0', 'ICD9CM:473.0', 'NCI:C34477', 'SNOMEDCT_US_2022_09_01:195785003', 'UMLS_CUI:C0008698']",['DOID:2051']
6019,10793,chronic sphenoidal sinusitis,"""A sphenoid sinusitis which lasts for 12 weeks or more."" [url:http\://en.wikipedia.org/wiki/sinusitis]",['NCIthesaurus'],"['ICD10CM:J32.3', 'ICD9CM:473.3', 'NCI:C34480', 'SNOMEDCT_US_2022_09_01:155528009', 'UMLS_CUI:C0008712']",['DOID:10794']
6020,10794,sphenoid sinusitis,"""A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head."" [url:http\://en.wikipedia.org/wiki/sinusitis]",['NCIthesaurus'],"['ICD10CM:J32.3', 'MESH:D015524', 'NCI:C35031', 'SNOMEDCT_US_2022_09_01:13266007', 'UMLS_CUI:C0037886']",['DOID:0050127']
6021,1080,filariasis,"""A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea."" [url:http\://en.wikipedia.org/wiki/Filariasis]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B74', 'ICD9CM:125.9', 'MESH:D005368', 'NCI:C34611', 'SNOMEDCT_US_2022_09_01:50342004', 'UMLS_CUI:C0016085']",['DOID:883']
6024,1081,mansonelliasis,"""A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies."" [url:http\://en.wikipedia.org/wiki/Mansonelliasis]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:8216', 'ICD10CM:B74.4', 'MESH:D008368', 'NCI:C84882', 'SNOMEDCT_US_2022_09_01:240849009', 'UMLS_CUI:C0024759']",['DOID:1080']
6026,10811,nasal cavity cancer,"""A respiratory system cancer that is located_in the nasal cavity."" [url:http\://en.wikipedia.org/wiki/Nasal_cavity]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C30.0', 'ICD9CM:160.0', 'NCI:C4918', 'SNOMEDCT_US_2022_09_01:93917007', 'UMLS_CUI:C0728864']",['DOID:0050615']
6029,10816,duodenum adenocarcinoma,"""A duodenum cancer that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C7889', 'SNOMEDCT_US_2022_09_01:408644002', 'UMLS_CUI:C0278804']",['DOID:10021']
6031,1082,dirofilariasis,"""A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions."" [url:https\://en.wikipedia.org/wiki/Dirofilariasis]","['DO_infectious_disease_slim', 'DO_rare_slim', 'zoonotic_infectious_disease']","['GARD:11908', 'ICD10CM:B74.8', 'MESH:D004184', 'SNOMEDCT_US_2022_09_01:73328005', 'UMLS_CUI:C0012602']",['DOID:1080']
6033,10824,malignant hypertension,"""A hypertension that is characterized by rapid onset of extremely high blood pressure."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3118]",['NCIthesaurus'],"['MESH:D006974', 'NCI:C3118', 'SNOMEDCT_US_2022_09_01:155301003', 'UMLS_CUI:C0020540']",['DOID:10763']
6034,10825,essential hypertension,"""A hypertension with no known cause. It is the most common type of hypertension."" [url:http\://en.wikipedia.org/wiki/Essential_hypertension, url:http\://www.merckmanuals.com/professional/cardiovascular_disorders/hypertension/overview_of_hypertension.html]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:I10', 'ICD9CM:401', 'MESH:D000075222', 'NCI:C3478', 'OMIM:145500', 'OMIM:603918', 'OMIM:604329', 'OMIM:607329', 'OMIM:608742', 'OMIM:610261', 'OMIM:610262', 'OMIM:610948', 'OMIM:611014', 'ORDO:243761', 'SNOMEDCT_US_2022_09_01:194757006', 'UMLS_CUI:C0085580']",['DOID:10763']
6037,10841,Eastern equine encephalitis,"""A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma."" [url:http\://www.cdc.gov/EasternEquineEncephalitis/index.html, url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.ncagr.gov/vet/FactSheets/EEE.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'zoonotic_infectious_disease']","['GARD:10821', 'ICD10CM:A83.2', 'ICD9CM:062.2', 'MESH:D020242', 'SNOMEDCT_US_2022_09_01:40177004', 'UMLS_CUI:C0153065']",['DOID:934']
6038,10842,Murray Valley encephalitis,"""A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/13007862]",['DO_infectious_disease_slim'],"['ICD10CM:A83.4', 'ICD9CM:062.4', 'SNOMEDCT_US_2022_09_01:66454007', 'UMLS_CUI:C0153066']",['DOID:934']
6039,10843,Western equine encephalitis,"""A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness."" [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:7888', 'ICD10CM:A83.1', 'ICD9CM:062.1', 'MESH:D020241', 'NCI:C85227', 'SNOMEDCT_US_2022_09_01:47523006', 'UMLS_CUI:C0153064']",['DOID:934']
6040,10844,Japanese encephalitis,"""A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis."" [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.cdc.gov/ncidod/dvbid/jencephalitis/qa.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6797', 'ICD10CM:A83.0', 'ICD9CM:062.0', 'MESH:D004672', 'NCI:C34577', 'SNOMEDCT_US_2022_09_01:266194002', 'UMLS_CUI:C0014057']",['DOID:934']
6041,10845,St. Louis encephalitis,"""A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis."" [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.cdc.gov/ncidod/dvbid/sle/Sle_FactSheet.html]",['DO_infectious_disease_slim'],"['ICD10CM:A83.3', 'ICD9CM:062.3', 'MESH:D004674', 'SNOMEDCT_US_2022_09_01:10429004', 'UMLS_CUI:C0014060']",['DOID:934']
6044,1085,Edwards syndrome,"""A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18."" [url:https\://ghr.nlm.nih.gov/condition/trisomy-18]",['NCIthesaurus'],"['ICD9CM:758.2', 'MESH:D000073842', 'NCI:C101362', 'SNOMEDCT_US_2022_09_01:51500006', 'UMLS_CUI:C0152096']",['DOID:0060429']
6045,10852,middle ear cholesterol granuloma,"""A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum."" [url:http\://books.google.com/books?id=ZjbGu_NasbcC&pg=RA1-PA75&lpg#v=onepage&q=&f=false, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16354369]",['NCIthesaurus'],"['NCI:C3655', 'SNOMEDCT_US_2022_09_01:28371001', 'UMLS_CUI:C0155492']",['DOID:10754']
6049,10865,abducens nerve palsy,"""A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve."" [url:https\://pubmed.ncbi.nlm.nih.gov/35356946/, url:https\://www.aapos.org/glossary/sixth-nerve-palsy, url:https\://www.ncbi.nlm.nih.gov/books/NBK482177/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9482', 'MESH:D020434', 'NCI:C27593', 'OMIM:100200', 'SNOMEDCT_US_2022_09_01:82373004', 'UMLS_CUI:C0271355']",['DOID:3817']
6052,10871,age related macular degeneration,"""A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision."" [url:http\://en.wikipedia.org/wiki/Macular_degeneration]",['NCIthesaurus'],"['EFO:0001365', 'ICD10CM:H35.30', 'ICD9CM:362.50', 'MESH:D008268', 'NCI:C84391', 'OMIM:PS603075', 'SNOMEDCT_US_2022_09_01:18222007', 'UMLS_CUI:C0242383']",['DOID:2007']
6056,10881,"hand, foot and mouth disease","""A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet."" [url:http\://www.cdc.gov/ncidod/dvrd/revb/enterovirus/hfhf.htm]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B08.4', 'ICD9CM:074.3', 'MESH:D006232', 'NCI:C128439', 'SNOMEDCT_US_2022_09_01:175497008', 'UMLS_CUI:C0018572']",['DOID:934']
6057,10882,epidemic pleurodynia,"""A viral infectious disease that results in necrosis located in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache."" [url:https\://www.merckmanuals.com/professional/infectious-diseases/enteroviruses/epidemic-pleurodynia]",['DO_infectious_disease_slim'],"['ICD10CM:B33.0', 'ICD9CM:074.1', 'MESH:D011000', 'SNOMEDCT_US_2022_09_01:83264000', 'UMLS_CUI:C0032238']",['DOID:934']
6058,10883,herpangina,"""A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars."" [url:http\://en.wikipedia.org/wiki/Herpangina, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000969.htm]",['DO_infectious_disease_slim'],"['ICD10CM:B08.5', 'ICD9CM:074.0', 'MESH:D006557', 'SNOMEDCT_US_2022_09_01:154358007', 'UMLS_CUI:C0019338']",['DOID:934']
6059,10887,lepromatous leprosy,"""A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas."" [url:https\://www.amjmed.com/article/S0002-9343(17)30612-5/fulltext]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD10CM:A30.5', 'ICD9CM:030.0', 'MESH:D015440', 'SNOMEDCT_US_2022_09_01:21560005', 'UMLS_CUI:C0023348']",['DOID:1024']
6061,10892,hypospadias,"""A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum."" [url:http\://en.wikipedia.org/wiki/Hypospadias, url:http\://ghr.nlm.nih.gov/glossary=hypospadias]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:Q54', 'MESH:D007021', 'NCI:C40341', 'OMIM:146450', 'OMIM:300633', 'OMIM:300758', 'OMIM:300856', 'ORDO:440', 'SNOMEDCT_US_2022_09_01:156968008', 'UMLS_CUI:C0848558']",['DOID:0080015']
6062,10907,microcephaly,"""A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants."" [url:https\://en.wikipedia.org/wiki/Microcephaly]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:3603', 'GARD:7038', 'ICD10CM:Q02', 'ICD9CM:742.1', 'MESH:D008831', 'NCI:C85874', 'SNOMEDCT_US_2022_09_01:156893009', 'UMLS_CUI:C0025958']",['DOID:2490']
6063,10908,hydrocephalus,"""A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head."" [url:http\://en.wikipedia.org/wiki/Hydrocephalus, url:http\://ghr.nlm.nih.gov/glossary=hydrocephalus, url:http\://www.mayoclinic.org/diseases-conditions/hydrocephalus/basics/definition/con-20030706?_ga=1.124310025.2017809229.1415219956]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6682', 'ICD10CM:G91', 'MESH:D006849', 'NCI:C3111', 'OMIM:123155', 'OMIM:236600', 'OMIM:236635', 'OMIM:307000', 'OMIM:615219', 'ORDO:2182', 'ORDO:2185', 'SNOMEDCT_US_2022_09_01:267687006', 'UMLS_CUI:C0020255']",['DOID:1443']
6066,10914,amnestic disorder,"""A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information."" [url:http\://en.wikipedia.org/wiki/Amnesia, url:http\://www.minddisorders.com/A-Br/Amnestic-disorders.html]","['DO_FlyBase_slim', 'NCIthesaurus']","['ICD10CM:R41.3', 'ICD9CM:294.0', 'MESH:D000647', 'NCI:C2867', 'SNOMEDCT_US_2022_09_01:247606008', 'SNOMEDCT_US_2022_09_01:3298001', 'UMLS_CUI:C0002622', 'UMLS_CUI:C0002625']",['DOID:1561']
6067,10915,Wernicke-Korsakoff syndrome,"""A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency."" [url:https\://en.wikipedia.org/wiki/Wernicke%E2%80%93Korsakoff_syndrome]",['NCIthesaurus'],"['MESH:D020915', 'NCI:C35764', 'OMIM:277730', 'SNOMEDCT_US_2022_09_01:69482004', 'UMLS_CUI:C0349464']",['DOID:0070313']
6068,10921,Siberian tick typhus,"""A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash."" [url:http\://cmr.asm.org/cgi/content/full/18/4/719#%27%27Rickettsia_sibirica_subsp._sibirica%27%27_%28Siberian_tick_typhus_or_North_Asian_tick_typhus%29, url:http\://www.cdc.gov/otherspottedfever/index.html]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'tick-borne_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A77.2', 'ICD9CM:082.2', 'MESH:D000073605', 'SNOMEDCT_US_2022_09_01:7692008', 'UMLS_CUI:C0549160']",['DOID:11104']
6069,10923,sickle cell anemia,"""A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape."" [url:https\://en.wikipedia.org/wiki/Sickle_cell_disease, url:https\://ghr.nlm.nih.gov/condition/sickle-cell-disease, url:https\://www.nhlbi.nih.gov/health-topics/sickle-cell-disease]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8614', 'ICD10CM:D57.1', 'ICD10CM:D57.2', 'ICD9CM:282.6', 'ICD9CM:282.63', 'MESH:D000755', 'MESH:D006450', 'NCI:C34383', 'NCI:C34676', 'OMIM:603903', 'ORDO:232', 'SNOMEDCT_US_2022_09_01:154798006', 'SNOMEDCT_US_2022_09_01:35434009', 'UMLS_CUI:C0002895', 'UMLS_CUI:C0019034']",['DOID:620']
6071,10930,borderline personality disorder,"""A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods."" [url:http\://en.wikipedia.org/wiki/Borderline_personality_disorder]",['NCIthesaurus'],"['ICD10CM:F60.3', 'ICD9CM:301.83', 'MESH:D001883', 'NCI:C92633', 'SNOMEDCT_US_2022_09_01:20010003', 'UMLS_CUI:C0006012']",['DOID:1510']
6072,10931,dependent personality disorder,"""A personality disorder that is characterized by a pervasive psychological dependence on other people."" [url:http\://en.wikipedia.org/wiki/Dependent_personality_disorder]",['NCIthesaurus'],"['ICD10CM:F60.7', 'ICD9CM:301.6', 'MESH:D003859', 'NCI:C92637', 'SNOMEDCT_US_2022_09_01:192492003', 'UMLS_CUI:C0011548']",['DOID:1510']
6073,10932,obsessive-compulsive personality disorder,"""A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency."" [url:http\://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_personality_disorder]",['NCIthesaurus'],"['ICD10CM:F60.5', 'ICD9CM:301.4', 'MESH:D003193', 'NCI:C92638', 'SNOMEDCT_US_2022_09_01:191761001', 'UMLS_CUI:C0009595']",['DOID:1510']
6074,10933,obsessive-compulsive disorder,"""An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions)."" [url:https\://www.nimh.nih.gov/health/topics/obsessive-compulsive-disorder-ocd/index.shtml]",['NCIthesaurus'],"['ICD10CM:F42', 'ICD9CM:300.3', 'MESH:D009771', 'NCI:C88411', 'SNOMEDCT_US_2022_09_01:71478004', 'UMLS_CUI:C0028768']",['DOID:2030']
6075,10934,multiple personality disorder,"""A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities."" [url:http\://en.wikipedia.org/wiki/Dissociative_identity_disorder]",['NCIthesaurus'],"['ICD10CM:F44.81', 'ICD9CM:300.14', 'MESH:D009105', 'NCI:C94330', 'SNOMEDCT_US_2022_09_01:31611000', 'UMLS_CUI:C0026773']",['DOID:10935']
6076,10935,dissociative disorder,"""A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated)."" [url:https\://www.mayoclinic.org/diseases-conditions/dissociative-disorders/symptoms-causes/syc-20355215]",['NCIthesaurus'],"['ICD10CM:F44.9', 'ICD10CM:F48.9', 'ICD9CM:300.15', 'ICD9CM:300.9', 'MESH:D004213', 'NCI:C92197', 'SNOMEDCT_US_2022_09_01:154883004', 'UMLS_CUI:C0012746', 'UMLS_CUI:C0041857']",['DOID:150']
6077,10936,schizoid personality disorder,"""A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world."" [url:http\://en.wikipedia.org/wiki/Schizoid_personality_disorder]",['NCIthesaurus'],"['ICD10CM:F60.1', 'ICD9CM:301.2', 'MESH:D012557', 'NCI:C92631', 'SNOMEDCT_US_2022_09_01:192486009', 'UMLS_CUI:C0036339']",['DOID:1510']
6078,10937,impulse control disorder,"""A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others."" [url:https\://en.wikipedia.org/wiki/Impulse_control_disorder]",['NCIthesaurus'],"['ICD10CM:F63.9', 'ICD9CM:312.30', 'MESH:D007174', 'NCI:C34723', 'SNOMEDCT_US_2022_09_01:192098008', 'UMLS_CUI:C0021122']",['DOID:150']
6079,10938,paranoid personality disorder,"""A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others."" [url:http\://en.wikipedia.org/wiki/Paranoid_personality_disorder]",['NCIthesaurus'],"['ICD10CM:F60.0', 'ICD9CM:301.0', 'MESH:D010260', 'NCI:C92630', 'SNOMEDCT_US_2022_09_01:270529002', 'UMLS_CUI:C0030477']",['DOID:1510']
6080,10939,antisocial personality disorder,"""A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood."" [url:http\://en.wikipedia.org/wiki/Antisocial_personality_disorder]",['NCIthesaurus'],"['ICD10CM:F60.2', 'ICD9CM:301.7', 'MESH:D000987', 'NCI:C88413', 'SNOMEDCT_US_2022_09_01:191769004', 'UMLS_CUI:C0003431']",['DOID:1510']
6081,1094,attention deficit hyperactivity disorder,"""A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age."" [url:http\://en.wikipedia.org/wiki/Attention-Deficit_Hyperactivity_Disorder]",['NCIthesaurus'],"['EFO:0003888', 'MESH:D001289', 'OMIM:143465', 'OMIM:608903', 'OMIM:608904', 'OMIM:608905', 'OMIM:608906', 'OMIM:612311', 'OMIM:612312', 'SNOMEDCT_US_2022_09_01:229713001', 'UMLS_CUI:C0041671']",['DOID:0060038']
6084,10952,nephritis,"""A kidney disease that is characterized by an inflammation of the kidneys."" [url:https\://en.wikipedia.org/wiki/Nephritis]",['NCIthesaurus'],"['ICD10CM:N08', 'MESH:D009393', 'NCI:C26833', 'SNOMEDCT_US_2022_09_01:52845002', 'UMLS_CUI:C0027697']",['DOID:557']
6085,10955,strongyloidiasis,"""A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis."" [url:http\://en.wikipedia.org/wiki/Strongyloidiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:8195', 'ICD10CM:B78', 'ICD9CM:127.2', 'MESH:D013322', 'NCI:C128398', 'SNOMEDCT_US_2022_09_01:1214006', 'UMLS_CUI:C0038463']",['DOID:883']
6088,10965,spastic diplegia,"""A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk."" [url:https\://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy]",['NCIthesaurus'],"['ICD10CM:G80.1', 'ICD9CM:343.0', 'MESH:D002547', 'NCI:C34781', 'SNOMEDCT_US_2022_09_01:1178005', 'SNOMEDCT_US_2022_09_01:275469001', 'UMLS_CUI:C0023882', 'UMLS_CUI:C0154695']",['DOID:0050669']
6090,10967,spastic hemiplegia,"""A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally."" [url:https\://www.cerebralpalsyguide.com/cerebral-palsy/types/spastic/]",['DO_rare_slim'],"['GARD:10448', 'ICD9CM:343.1', 'SNOMEDCT_US_2022_09_01:258714003', 'UMLS_CUI:C0270805']",['DOID:0050669']
6091,10968,spastic monoplegia,"""A spastic cerebral palsy that affects only one limb."" [url:http\://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic]",['DO_rare_slim'],"['GARD:10446', 'ICD9CM:343.3', 'MESH:D002547', 'UMLS_CUI:C0154698']",['DOID:0050669']
6092,10969,hemiplegia,"""A central nervous system disease that is characterized by the complete paralysis of half of the body."" [url:https\://en.wikipedia.org/wiki/Hemiparesis]",['DO_rare_slim'],"['GARD:6583', 'ICD9CM:343.4', 'MESH:D006429', 'SNOMEDCT_US_2022_09_01:155024003', 'UMLS_CUI:C0392550']",['DOID:331']
6093,10970,spastic quadriplegic cerebral palsy,"""A spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four limbs, and with difficulty with walking and talking."" [url:https\://cerebralpalsygroup.com/cerebral-palsy/spastic/]",['DO_rare_slim'],"['GARD:10447', 'OMIM:PS612900', 'ORDO:210141', 'SNOMEDCT_US_2022_09_01:192953000', 'UMLS_CUI:C0154697']",['DOID:0050669']
6100,10983,Alport syndrome,"""A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss."" [url:http\://en.wikipedia.org/wiki/Alport_syndrome]","['DO_MGI_slim', 'DO_rare_slim']","['GARD:5785', 'MESH:D009394', 'ORDO:63', 'SNOMEDCT_US_2022_09_01:57333009', 'UMLS_CUI:C0027706']",['DOID:225']
6103,1099,alpha thalassemia,"""A thalassemia involving the genes HBA1and HBA2 hemoglobin genes."" [url:http\://en.wikipedia.org/wiki/Alpha_Thalassemia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:621', 'ICD10CM:D56.0', 'ICD9CM:282.43', 'MESH:D017085', 'NCI:C34368', 'OMIM:604131', 'SNOMEDCT_US_2022_09_01:191186002', 'UMLS_CUI:C0002312']",['DOID:10241']
6105,10992,acute hemorrhagic leukoencephalitis,"""A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema."" [url:http\://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis#Acute_hemorrhagic_leukoencephalitis, url:http\://rarediseases.info.nih.gov/gard/8629/acute-hemorrhagic-leukoencephalitis/resources/1]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8629', 'MESH:D004684', 'NCI:C84535', 'OMIM:606752', 'SNOMEDCT_US_2022_09_01:72986009', 'UMLS_CUI:C0014077']",['DOID:639']
6108,110,lens disease,"""An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye."" [url:https\://en.wikipedia.org/wiki/Lens_(anatomy)]",['NCIthesaurus'],"['ICD10CM:H27.9', 'MESH:D007905', 'NCI:C26812', 'SNOMEDCT_US_2022_09_01:194613002', 'UMLS_CUI:C0023308']",['DOID:5614']
6109,1100,ovarian disease,"""A female reproductive system disease that is located_in the ovary."" [url:https\://medlineplus.gov/ovariandisorders.html]",['NCIthesaurus'],"['MESH:D010049', 'NCI:C26841', 'SNOMEDCT_US_2022_09_01:5552004', 'UMLS_CUI:C0029928']",['DOID:229']
6119,11037,dissociative amnesia,"""A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress."" [url:https\://www.merckmanuals.com/professional/psychiatric-disorders/dissociative-disorders/dissociative-amnesia]",['NCIthesaurus'],"['ICD10CM:F44.0', 'ICD9CM:300.12', 'MESH:D000647', 'NCI:C94328', 'SNOMEDCT_US_2022_09_01:192420000', 'UMLS_CUI:C0236795']",['DOID:10935']
6120,11038,depersonalization disorder,"""A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization."" [url:http\://en.wikipedia.org/wiki/Depersonalization_disorder]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6260', 'ICD9CM:300.6', 'MESH:D003861', 'NCI:C94331', 'SNOMEDCT_US_2022_09_01:70764005', 'UMLS_CUI:C0683416']",['DOID:10935']
6121,11042,Felty's syndrome,"""A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia."" [url:http\://en.wikipedia.org/wiki/Felty%27s_syndrome, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000445.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8234', 'ICD10CM:M05.0', 'ICD9CM:714.1', 'MESH:D005258', 'NCI:C84712', 'OMIM:134750', 'SNOMEDCT_US_2022_09_01:57160007', 'UMLS_CUI:C0015773']",['DOID:225']
6123,11049,meconium aspiration syndrome,"""A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery."" [url:https\://pubmed.ncbi.nlm.nih.gov/27206687/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10494', 'ICD10CM:P24.01', 'MESH:D008471', 'NCI:C87093', 'SNOMEDCT_US_2022_09_01:85779008', 'UMLS_CUI:C0025048']",['DOID:850']
6124,11054,urinary bladder cancer,"""An urinary system cancer that results_in malignant growth located_in the urinary bladder."" [url:http\://en.wikipedia.org/wiki/Bladder_cancer]","['DO_cancer_slim', 'DO_CFDE_slim', 'DO_RAD_slim', 'DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['GARD:12210', 'ICD10CM:C67', 'ICD9CM:188', 'KEGG:05219', 'MESH:D001749', 'NCI:C2901', 'NCI:C9334', 'OMIM:109800', 'SNOMEDCT_US_2022_09_01:126885006', 'SNOMEDCT_US_2022_09_01:363455001', 'UMLS_CUI:C0005684', 'UMLS_CUI:C0005695']",['DOID:3996']
6125,11055,pasteurellosis,"""A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia."" [url:http\://en.wikipedia.org/wiki/Pasteurellosis]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A28.0', 'ICD9CM:027.2', 'MESH:D010326', 'SNOMEDCT_US_2022_09_01:276199008', 'UMLS_CUI:C0030636']",['DOID:0050338']
6127,11060,placenta praevia,"""A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix."" [url:http\://en.wikipedia.org/wiki/Placenta_previa]",['NCIthesaurus'],"['ICD10CM:O44', 'MESH:D010923', 'NCI:C26858', 'SNOMEDCT_US_2022_09_01:157059004', 'UMLS_CUI:C0032046']",['DOID:780']
6128,1107,esophageal carcinoma,"""A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:http\://en.wikipedia.org/wiki/Esophageal_cancer]","['DO_cancer_slim', 'NCIthesaurus']","['EFO:0002916', 'NCI:C3513', 'SNOMEDCT_US_2022_09_01:255079005', 'UMLS_CUI:C0152018']",['DOID:5041']
6130,11077,brucellosis,"""A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue."" [url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:5966', 'ICD10CM:A23', 'ICD9CM:023', 'MESH:D002006', 'NCI:C84602', 'SNOMEDCT_US_2022_09_01:154296006', 'UMLS_CUI:C0006309']",['DOID:0050338']
6131,11079,leech infestation,"""A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream."" [url:http\://en.wikipedia.org/wiki/Leech, url:http\://www.plosone.org/article/info\:doi/10.1371/journal.pone.0010057]",['DO_infectious_disease_slim'],"['ICD10CM:B88.3', 'ICD9CM:134.2', 'SNOMEDCT_US_2022_09_01:154423006', 'UMLS_CUI:C0019575']",['DOID:4110']
6133,11080,myiasis,"""A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue."" [url:http\://en.wikipedia.org/wiki/Myiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B87', 'ICD9CM:134.0', 'MESH:D009198', 'NCI:C128400', 'SNOMEDCT_US_2022_09_01:266225001', 'UMLS_CUI:C0027030']",['DOID:4110']
6135,11088,asphyxia neonatorum,"""A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain."" [url:https\://en.wikipedia.org/wiki/Perinatal_asphyxia]",['DO_rare_slim'],"['GARD:5857', 'ICD10CM:P84', 'ICD9CM:768.9', 'MESH:D001238', 'SNOMEDCT_US_2022_09_01:413654009', 'UMLS_CUI:C0004045']",['DOID:1579']
6136,11100,Q fever,"""A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia."" [url:http\://en.wikipedia.org/wiki/Q_fever, url:http\://www.cdc.gov/qfever/symptoms/index.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/15021054]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:7515', 'ICD10CM:A78', 'ICD9CM:083.0', 'MESH:D011778', 'NCI:C34970', 'SNOMEDCT_US_2022_09_01:266205000', 'UMLS_CUI:C0034362']",['DOID:0050338']
6137,11101,trench fever,"""A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back."" [url:http\://en.wikipedia.org/wiki/Trench_fever]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease']","['ICD10CM:A79.0', 'ICD9CM:083.1', 'MESH:D014205', 'SNOMEDCT_US_2022_09_01:82214002', 'UMLS_CUI:C0040830']",['DOID:11102']
6138,11102,bartonellosis,"""A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella."" [url:https\://en.wikipedia.org/wiki/Bartonellosis]","['DO_infectious_disease_slim', 'GOLD', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus']","['ICD10CM:A44', 'ICD9CM:088.0', 'MESH:D001474', 'NCI:C84586', 'SNOMEDCT_US_2022_09_01:17116008', 'UMLS_CUI:C0004771']",['DOID:0050338']
6139,11103,rickettsialpox,"""A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash."" [url:http\://www.cdc.gov/otherspottedfever/index.html]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A79.1', 'ICD9CM:083.2', 'MESH:D000073605', 'SNOMEDCT_US_2022_09_01:75096007', 'UMLS_CUI:C0035597']",['DOID:11104']
6140,11104,spotted fever,"""A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted by ticks and mites. The infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite."" [url:http\://www.cdc.gov/otherspottedfever/index.html]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease']","['GARD:4998', 'ICD10CM:A77.9', 'ICD9CM:082.0', 'MESH:D000073605', 'SNOMEDCT_US_2022_09_01:186771002', 'UMLS_CUI:C0038041']",['DOID:0050338']
6143,11119,Gilles de la Tourette syndrome,"""A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year."" [url:http\://en.wikipedia.org/wiki/Tic_disorder, url:http\://en.wikipedia.org/wiki/Tourette%27s_disorder]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0004895', 'GARD:7783', 'ICD10CM:F95.2', 'ICD9CM:307.23', 'MESH:D005879', 'NCI:C35078', 'OMIM:137580', 'SNOMEDCT_US_2022_09_01:5158005', 'UMLS_CUI:C0040517']",['DOID:2769']
6145,11121,pulpitis,"""A dental pulp disease characterized by inflammation."" [url:https\://www.ada.org/publications/cdt/glossary-of-dental-clinical-terms, url:https\://www.merckmanuals.com/professional/dental-disorders/common-dental-disorders/pulpitis]",['NCIthesaurus'],"['ICD10CM:K04.0', 'ICD9CM:522.0', 'MESH:D011671', 'NCI:C52595', 'SNOMEDCT_US_2022_09_01:155638006', 'UMLS_CUI:C0034103']",['DOID:5330']
6146,11123,Henoch-Schoenlein purpura,"""A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection."" [url:https\://rarediseases.info.nih.gov/diseases/8204/henoch-schonlein-purpura]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8204', 'ICD10CM:D69.0', 'ICD9CM:287.0', 'MESH:D011695', 'NCI:C34963', 'SNOMEDCT_US_2022_09_01:191306005', 'UMLS_CUI:C0034152']",['DOID:9809']
6154,1114,esophagus sarcoma,"""An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus."" [url:http\://en.wikipedia.org/wiki/Sarcoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/1658495]",['NCIthesaurus'],"['NCI:C5341', 'UMLS_CUI:C1333466']",['DOID:5041']
6157,1115,sarcoma,"""A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm."" [url:http\://cancergenome.nih.gov/cancersselected/Sarcoma, url:http\://en.wikipedia.org/wiki/Sarcoma, url:http\://www.cancer.gov/dictionary?CdrID=45562]","['DO_cancer_slim', 'DO_RAD_slim', 'TopNodes_DOcancerslim']","['ICD10CM:C49', 'ICD9CM:171.9', 'ICDO:8800/3', 'SNOMEDCT_US_2022_09_01:93765001', 'UMLS_CUI:C0153519']",['DOID:0050687']
6160,11155,hypohidrosis,"""A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands."" [url:https\://en.wikipedia.org/wiki/Hypohidrosis]",['NCIthesaurus'],"['ICD10CM:L74.4', 'MESH:D007007', 'NCI:C34718', 'SNOMEDCT_US_2022_09_01:201189007', 'UMLS_CUI:C0020620']",['DOID:1383']
6161,11156,anhidrosis,"""A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin."" [url:https\://en.wikipedia.org/wiki/Hypohidrosis, url:https\://my.clevelandclinic.org/health/diseases/15891-anhidrosis-lack-of-sweat]",['NCIthesaurus'],"['ICD10CM:L74.4', 'ICD9CM:705.0', 'MESH:D007007', 'NCI:C34385', 'OMIM:206600', 'SNOMEDCT_US_2022_09_01:201189007', 'UMLS_CUI:C0003028']",['DOID:11155']
6162,1116,pertussis,"""A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop)."" [url:http\://en.wikipedia.org/wiki/Pertussis, url:http\://www.merck.com/mmhe/sec23/ch272/ch272g.html#sec23-ch272-ch272g-800]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease']","['KEGG:05133', 'MESH:D001885', 'SNOMEDCT_US_2022_09_01:26484003', 'UMLS_CUI:C0006015']",['DOID:0050339']
6164,11162,respiratory failure,"""A lung disease characterized by inadequate gas exchange by the respiratory system."" [url:http\://en.wikipedia.org/wiki/Respiratory_failure]",['NCIthesaurus'],"['ICD10CM:J96.0', 'ICD9CM:518.81', 'NCI:C27043', 'SNOMEDCT_US_2022_09_01:65710008', 'UMLS_CUI:C0264490']",['DOID:850']
6166,11165,common wart,"""A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body."" [url:http\://en.wikipedia.org/wiki/Wart]","['DO_infectious_disease_slim', 'NCIthesaurus']","['NCI:C5028', 'SNOMEDCT_US_2022_09_01:30285000', 'UMLS_CUI:C0043037']",['DOID:934']
6167,11166,Human papillomavirus infectious disease,"""A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact."" [url:https\://pubmed.ncbi.nlm.nih.gov/28964706/]",['DO_infectious_disease_slim'],['MESH:D030361'],['DOID:934']
6168,11168,anogenital venereal wart,"""A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts."" [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194d.html]","['DO_infectious_disease_slim', 'NCIthesaurus', 'sexually_transmitted_infectious_disease']","['ICD10CM:A63.0', 'ICD9CM:078.11', 'MESH:D003218', 'NCI:C2960', 'NCI:C4820', 'SNOMEDCT_US_2022_09_01:240542006', 'SNOMEDCT_US_2022_09_01:302812006', 'UMLS_CUI:C0009663', 'UMLS_CUI:C0554632']",['DOID:934']
6174,11186,allescheriosis,"""A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses."" [url:https\://pubmed.ncbi.nlm.nih.gov/934264/]",['DO_infectious_disease_slim'],"['ICD10CM:B48.2', 'ICD9CM:117.6', 'SNOMEDCT_US_2022_09_01:80936003', 'UMLS_CUI:C0153285']",['DOID:0050292']
6176,11190,pseudomembranous conjunctivitis,"""A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid."" [url:http\://bjo.bmj.com/content/55/5/312.full.pdf, url:https\://www.ncbi.nlm.nih.gov/pubmed/9400798]",['NCIthesaurus'],"['ICD10CM:H10.22', 'ICD9CM:372.04', 'NCI:C35196', 'SNOMEDCT_US_2022_09_01:267643002', 'UMLS_CUI:C0155144']",['DOID:11184']
6177,11193,syndactyly,"""A synostosis that results_in the fusion of two or more digits."" [url:http\://en.wikipedia.org/wiki/Syndactyly, url:http\://www.hmc.psu.edu/healthinfo/pq/poly.htm, url:http\://www.wheelessonline.com/ortho/syndactyly]","['DO_rare_slim', 'NCIthesaurus']","['GARD:13181', 'ICD10CM:Q70', 'ICD9CM:755.1', 'MESH:D013576', 'NCI:C87125', 'ORDO:295012', 'ORDO:90025', 'ORDO:93403', 'SNOMEDCT_US_2022_09_01:156989004', 'UMLS_CUI:C0039075']",['DOID:11971']
6180,11198,DiGeorge syndrome,"""A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production."" [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome, url:https\://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10299', 'ICD10CM:D82.1', 'ICD9CM:279.11', 'MESH:D004062', 'NCI:C2989', 'OMIM:188400', 'SNOMEDCT_US_2022_09_01:190991007', 'UMLS_CUI:C0012236']",['DOID:225']
6181,11199,hypoparathyroidism,"""A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood."" [url:http\://en.wikipedia.org/wiki/Hypoparathyroidism, url:http\://ghr.nlm.nih.gov/glossary=hypoparathyroidism, url:http\://www.mayoclinic.org/diseases-conditions/hypoparathyroidism/basics/definition/con-20030780?_ga=1.221847067.2017809229.1415219956]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6733', 'ICD10CM:E20', 'ICD9CM:252.1', 'MESH:D007011', 'NCI:C78350', 'OMIM:146200', 'OMIM:307700', 'ORDO:2238', 'SNOMEDCT_US_2022_09_01:154697005', 'UMLS_CUI:C0020626']",['DOID:11201']
6183,11200,T cell deficiency,"""A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells."" [url:https\://en.wikipedia.org/wiki/T_cell_deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/18755723]",['NCIthesaurus'],"['NCI:C27145', 'NCI:C27872', 'SNOMEDCT_US_2022_09_01:402792003', 'UMLS_CUI:C1274233', 'UMLS_CUI:C1333147']",['DOID:612']
6184,11201,parathyroid gland disease,"""An endocrine system disease that is located_in the parathyroid gland."" [url:http\://en.wikipedia.org/wiki/Parathyroid_disease]",['NCIthesaurus'],"['ICD10CM:E21.5', 'ICD9CM:252.9', 'MESH:D010279', 'NCI:C26844', 'SNOMEDCT_US_2022_09_01:73132005', 'UMLS_CUI:C0030517']",['DOID:28']
6185,11202,primary hyperparathyroidism,"""A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood."" [url:https\://rarediseases.org/rare-diseases/primary-hyperparathyroidism/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8612', 'ICD10CM:E21.0', 'ICD9CM:252.01', 'MESH:D049950', 'NCI:C48280', 'OMIM:600166', 'ORDO:99878', 'SNOMEDCT_US_2022_09_01:190452007', 'SNOMEDCT_US_2022_09_01:54920000', 'UMLS_CUI:C0221002', 'UMLS_CUI:C0271846']",['DOID:13543']
6187,11204,allergic conjunctivitis,"""A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant."" [url:http\://en.wikipedia.org/wiki/Allergic_conjunctivitis]",['NCIthesaurus'],"['MESH:D003233', 'NCI:C34506', 'SNOMEDCT_US_2022_09_01:231854006', 'UMLS_CUI:C0009766']",['DOID:2475']
6190,11212,hydrophthalmos,"""A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK1135/]",['NCIthesaurus'],"['ICD10CM:Q15.0', 'MESH:D006871', 'NCI:C50648', 'SNOMEDCT_US_2022_09_01:392368005', 'UMLS_CUI:C0020302']",['DOID:0050593']
6191,11213,acute contagious conjunctivitis,"""A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus."" [url:https\://www.aafp.org/afp/1998/0215/p735.html]",['NCIthesaurus'],"['NCI:C35704', 'SNOMEDCT_US_2022_09_01:240066005', 'UMLS_CUI:C1313983']",['DOID:11184']
6195,11227,acute hemorrhagic conjunctivitis,"""A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis."" [url:https\://en.wikipedia.org/wiki/Acute_hemorrhagic_conjunctivitis]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD9CM:077.4', 'MESH:D003232', 'NCI:C34505', 'SNOMEDCT_US_2022_09_01:186677009', 'UMLS_CUI:C0009765']",['DOID:934']
6201,11234,orbital cellulitis,"""An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision."" [url:https\://en.wikipedia.org/wiki/Tenonitis]",['NCIthesaurus'],"['ICD10CM:H05.01', 'ICD9CM:376.01', 'MESH:D054517', 'NCI:C99000', 'SNOMEDCT_US_2022_09_01:194005002', 'UMLS_CUI:C0149507']",['DOID:11230']
6203,11239,appendix cancer,"""A intestinal cancer that is located_in the appendix."" [url:http\://en.wikipedia.org/wiki/Vermiform_appendix]","['DO_cancer_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C18.1', 'ICD9CM:153.5', 'MESH:D001063', 'NCI:C9333', 'SNOMEDCT_US_2022_09_01:93679002', 'UMLS_CUI:C0496779']",['DOID:10155']
6212,11249,vitamin K deficiency bleeding,"""A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmillk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications."" [url:https\://en.wikipedia.org/wiki/Haemorrhagic_disease_of_the_newborn, url:https\://medlineplus.gov/ency/article/007320.htm, url:https\://www.cdc.gov/ncbddd/vitamink/facts.html, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592002/]",['NCIthesaurus'],"['ICD10CM:E56.1', 'ICD9CM:269.0', 'MESH:D014813', 'NCI:C99108', 'SNOMEDCT_US_2022_09_01:52675005', 'UMLS_CUI:C0042880']",['DOID:5113']
6214,11254,Brill-Zinsser disease,"""An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses."" [url:http\://en.wikipedia.org/wiki/Epidemic_typhus]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A75.1', 'ICD9CM:081.1', 'MESH:D014438', 'SNOMEDCT_US_2022_09_01:47761007', 'UMLS_CUI:C0006181']",['DOID:0050480']
6215,11256,typhus,"""A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites."" [url:https\://en.wikipedia.org/wiki/Typhus]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:7833', 'ICD10CM:A75.0', 'ICD10CM:A75.2', 'ICD10CM:A75.9', 'ICD9CM:080', 'ICD9CM:081.0', 'ICD9CM:081.9', 'MESH:D014437', 'MESH:D014438', 'NCI:C84688', 'NCI:C84689', 'SNOMEDCT_US_2022_09_01:154375001', 'SNOMEDCT_US_2022_09_01:25668000', 'SNOMEDCT_US_2022_09_01:39111003', 'UMLS_CUI:C0041471', 'UMLS_CUI:C0041472', 'UMLS_CUI:C0041473']",['DOID:0050338']
6216,11257,social phobia,"""A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people."" [url:http\://en.wikipedia.org/wiki/Social_phobia]",['NCIthesaurus'],"['ICD10CM:F40.1', 'ICD9CM:300.23', 'MESH:D000072861', 'NCI:C34927', 'SNOMEDCT_US_2022_09_01:192395002', 'UMLS_CUI:C0031572']",['DOID:591']
6217,11258,cat-scratch disease,"""A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain."" [url:http\://en.wikipedia.org/wiki/Cat_scratch_disease, url:http\://kidshealth.org/parent/infections/bacterial_viral/cat_scratch.html#]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'tick-borne_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A28.1', 'ICD9CM:078.3', 'MESH:D002372', 'NCI:C84620', 'SNOMEDCT_US_2022_09_01:123319006', 'UMLS_CUI:C0007361']",['DOID:11102']
6218,11260,rabies,"""A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in Rabies virus, which is transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis."" [url:http\://en.wikipedia.org/wiki/Rabies, url:https\://wwwnc.cdc.gov/travel/yellowbook/2020/travel-related-infectious-diseases/rabies]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:7516', 'ICD10CM:A82', 'ICD9CM:071', 'MESH:D011818', 'NCI:C28182', 'SNOMEDCT_US_2022_09_01:14168008', 'UMLS_CUI:C0034494']",['DOID:934']
6219,11262,ornithosis,"""A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia."" [url:http\://en.wikipedia.org/wiki/Psittacosis]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'zoonotic_infectious_disease']","['ICD10CM:A70', 'ICD9CM:073', 'MESH:D009956', 'NCI:C34873', 'SNOMEDCT_US_2022_09_01:154369005', 'UMLS_CUI:C0029291']",['DOID:0050338']
6220,11263,chlamydia,"""A commensal bacterial infectious disease that is caused by Chlamydia trachomatis."" [url:http\://en.wikipedia.org/wiki/Chlamydia_infection]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease']",['MESH:D002689'],['DOID:0050339']
6221,11265,trachoma,"""A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea."" [url:http\://en.wikipedia.org/wiki/Trachoma, url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/trachoma_t.htm, url:http\://www.who.int/blindness/causes/priority/en/index2.html]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease']","['GARD:10374', 'ICD10CM:A71', 'ICD10CM:A71.0', 'ICD10CM:A71.1', 'ICD9CM:076', 'ICD9CM:076.0', 'ICD9CM:076.1', 'MESH:D014141', 'SNOMEDCT_US_2022_09_01:154367007', 'SNOMEDCT_US_2022_09_01:29976007', 'SNOMEDCT_US_2022_09_01:52812002', 'UMLS_CUI:C0040592', 'UMLS_CUI:C0153107', 'UMLS_CUI:C0153108']",['DOID:0050339']
6222,11266,Hantavirus hemorrhagic fever with renal syndrome,"""A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Hantaan virus, has_material_basis_in Dobrava-Belgrade orthohantavirus has_material_basis_in Seoul virus, or has_material_basis_in Puumala virus, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure."" [url:http\://whqlibdoc.who.int/bulletin/1983/Vol61-No2/bulletin_1983_61%282%29_269-275.pdf, url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/hfrs.htm, url:https\://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome]","['DO_infectious_disease_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['ICD10CM:A98.5', 'ICD9CM:078.6', 'MESH:D006480', 'NCI:C84753', 'SNOMEDCT_US_2022_09_01:186701001', 'UMLS_CUI:C0019101']",['DOID:934']
6228,11285,tick paralysis,"""A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage."" [url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/00040975.htm, url:http\://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/10428629]","['DO_infectious_disease_slim', 'DO_rare_slim']","['GARD:7771', 'MESH:D013985', 'SNOMEDCT_US_2022_09_01:74225001', 'UMLS_CUI:C0040197']",['DOID:4109']
6231,11294,arteriovenous malformation,"""A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system."" [url:http\://en.wikipedia.org/wiki/Arteriovenous_malformation]",['NCIthesaurus'],"['ICD10CM:I77.0', 'ICDO:9123/0', 'NCI:C2882', 'SNOMEDCT_US_2022_09_01:403966009', 'UMLS_CUI:C0334533']",['DOID:255']
6235,11302,cercarial dermatitis,"""A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection."" [url:https\://en.wikipedia.org/wiki/Swimmer%27s_itch, url:https\://www.cdc.gov/parasites/swimmersitch/index.html]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9747', 'ICD10CM:B65.3', 'ICD9CM:120.3', 'NCI:C34457', 'SNOMEDCT_US_2022_09_01:187115002', 'UMLS_CUI:C0546996']",['DOID:1395']
6237,11315,African histoplasmosis,"""A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions."" [url:http\://www.cdc.gov/eid/content/13/11/1647.htm]",['DO_infectious_disease_slim'],"['ICD9CM:115.10', 'UMLS_CUI:C0153270']",['DOID:1731']
6239,11320,Kyasanur forest disease,"""A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems."" [url:http\://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/kyasanur.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'tick-borne_infectious_disease']","['GARD:8257', 'ICD10CM:A98.2', 'ICD9CM:065.2', 'MESH:D007733', 'SNOMEDCT_US_2022_09_01:23097003', 'UMLS_CUI:C0022810']",['DOID:934']
6240,11328,schizophreniform disorder,"""A psychotic disorder that involves schizophrenia symptoms over time period of one month."" [url:http\://en.wikipedia.org/wiki/Schizophreniform_disorder]",['NCIthesaurus'],"['ICD10CM:F20.81', 'ICD9CM:295.4', 'MESH:D011618', 'NCI:C94376', 'SNOMEDCT_US_2022_09_01:88975006', 'UMLS_CUI:C0036358']",['DOID:2468']
6241,11329,ainhum,"""A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later."" [url:http\://en.wikipedia.org/wiki/Ainhum, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ainhum]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9512', 'ICD10CM:L94.6', 'ICD9CM:136.0', 'MESH:D000387', 'NCI:C84544', 'OMIM:103400', 'SNOMEDCT_US_2022_09_01:51404004', 'UMLS_CUI:C0001860']",['DOID:65']
6243,11335,sarcoidosis,"""A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs."" [url:http\://en.wikipedia.org/wiki/Sarcoidosis, url:http\://ghr.nlm.nih.gov/glossary=sarcoidosis, url:http\://www.mayoclinic.org/diseases-conditions/sarcoidosis/basics/definition/con-20022569?_ga=1.188430891.2017809229.1415219956]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7607', 'ICD10CM:D86', 'ICD9CM:135', 'MESH:D012507', 'NCI:C34995', 'ORDO:797', 'SNOMEDCT_US_2022_09_01:154425004', 'UMLS_CUI:C0036202']",['DOID:2916']
6244,11336,rhinoscleroma,"""A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis."" [url:http\://en.wikipedia.org/wiki/Rhinoscleroma, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinoscleroma]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease']","['ICD9CM:040.1', 'MESH:D012226', 'SNOMEDCT_US_2022_09_01:72409005', 'UMLS_CUI:C0035468']",['DOID:0050338']
6245,11337,Lemierre's syndrome,"""A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling."" [url:http\://en.wikipedia.org/wiki/Fusobacterium_necrophorum, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=necrobacillosis]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease']","['GARD:6882', 'ICD9CM:040.3', 'MESH:D005674', 'SNOMEDCT_US_2022_09_01:52542005', 'UMLS_CUI:C0027537']",['DOID:0050339']
6246,11338,tetanus,"""A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli."" [url:http\://en.wikipedia.org/wiki/Tetanus]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['GARD:5144', 'ICD10CM:A35', 'ICD9CM:037', 'MESH:D013742', 'NCI:C85185', 'SNOMEDCT_US_2022_09_01:154312006', 'UMLS_CUI:C0039614']",['DOID:0050338']
6247,11339,pneumocystosis,"""An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever."" [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000671.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pneumocystis%20carinii%20pneumonia]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:4386', 'ICD10CM:B59', 'ICD9CM:136.3', 'MESH:D011020', 'NCI:C3334', 'SNOMEDCT_US_2022_09_01:57541005', 'UMLS_CUI:C1535939']",['DOID:2473']
6250,11343,scleral disease,"""An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C79717]",['NCIthesaurus'],"['ICD10CM:H15', 'MESH:D015422', 'NCI:C79717', 'SNOMEDCT_US_2022_09_01:33064008', 'UMLS_CUI:C0036412']",['DOID:5614']
6254,11360,Phlebotomus fever,"""A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia."" [url:http\://en.wikipedia.org/wiki/Pappataci_fever]","['DO_infectious_disease_slim', 'zoonotic_infectious_disease']","['ICD10CM:A93.1', 'ICD9CM:066.0', 'MESH:D010217', 'SNOMEDCT_US_2022_09_01:33670001', 'UMLS_CUI:C0030372']",['DOID:934']
6258,11372,megacolon,"""A colonic disease that is characterized by an abnormal dilation of the colon."" [url:http\://en.wikipedia.org/wiki/Megacolon]",['NCIthesaurus'],"['ICD10CM:K59.39', 'MESH:D008531', 'NCI:C34810', 'SNOMEDCT_US_2022_09_01:33995003', 'UMLS_CUI:C0025160']",['DOID:5353']
6260,11379,gnathomiasis,"""A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis."" [url:http\://www.dpd.cdc.gov/dpdx/HTML/Gnathostomiasis.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9286', 'ICD10CM:B83.1', 'ICD9CM:128.1', 'MESH:D058429', 'NCI:C128395', 'SNOMEDCT_US_2022_09_01:44086001', 'UMLS_CUI:C0018013']",['DOID:883']
6264,11385,expressive language disorder,"""A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits."" [url:http\://en.wikipedia.org/wiki/Expressive_language_disorder]",['NCIthesaurus'],"['ICD10CM:F80.1', 'ICD9CM:315.31', 'NCI:C92562', 'SNOMEDCT_US_2022_09_01:80360005', 'UMLS_CUI:C0236826']",['DOID:93']
6268,11394,adult respiratory distress syndrome,"""A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=adult+respiratory+distress+syndrome, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392788/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5698', 'ICD10CM:J80', 'MESH:D012128', 'NCI:C3353', 'SNOMEDCT_US_2022_09_01:155627006', 'UMLS_CUI:C0035222']",['DOID:11162']
6269,11396,pulmonary edema,"""A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure."" [url:https\://pubmed.ncbi.nlm.nih.gov/11357010/]",['NCIthesaurus'],"['ICD10CM:J81', 'MESH:D011654', 'NCI:C26868', 'SNOMEDCT_US_2022_09_01:19242006', 'UMLS_CUI:C0034063']",['DOID:11162']
6270,114,heart disease,"""A cardiovascular system disease that involves the heart."" [url:http\://en.wikipedia.org/wiki/Heart_disease]","['DO_FlyBase_slim', 'DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:I51.9', 'ICD9CM:429.9', 'MESH:D006331', 'NCI:C3079', 'SNOMEDCT_US_2022_09_01:194707003', 'UMLS_CUI:C0018799']",['DOID:1287']
6274,11405,diphtheria,"""A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys."" [url:http\://en.wikipedia.org/wiki/Diphtheria]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-positive_bacterial_infectious_disease']","['GARD:1875', 'MESH:D003354', 'SNOMEDCT_US_2022_09_01:397434007', 'UMLS_CUI:C0010153']",['DOID:0050338']
6277,11424,fallopian tube endometriosis,"""A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube."" [url:https\://en.wikipedia.org/wiki/Endometriosis]",['NCIthesaurus'],"['ICD10CM:N80.2', 'ICD9CM:617.2', 'NCI:C26763', 'SNOMEDCT_US_2022_09_01:22611009', 'UMLS_CUI:C0014177']",['DOID:289']
6278,11427,endosalpingiosis,"""A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube."" [url:https\://en.wikipedia.org/wiki/Endosalpingiosis]",['NCIthesaurus'],"['NCI:C179646', 'SNOMEDCT_US_2022_09_01:55850004', 'UMLS_CUI:C0269106']",['DOID:289']
6284,11432,endometriosis of ovary,"""A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary."" [url:https\://en.wikipedia.org/wiki/Endometriosis]",['NCIthesaurus'],"['ICD10CM:N80.1', 'ICD9CM:617.1', 'NCI:C27628', 'SNOMEDCT_US_2022_09_01:198250000', 'UMLS_CUI:C0156344']",['DOID:289']
6292,11476,osteoporosis,"""A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength."" [url:http\://en.wikipedia.org/wiki/Osteoporosis, url:http\://www.mayoclinic.com/health/osteoporosis/DS00128, url:http\://www.niams.nih.gov/Health_Info/Bone/default.asp, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000360.htm]",['NCIthesaurus'],"['EFO:0003882', 'ICD10CM:M81.0', 'ICD9CM:733.0', 'MESH:D010024', 'NCI:C3298', 'OMIM:166710', 'SNOMEDCT_US_2022_09_01:156825006', 'UMLS_CUI:C0029456']",['DOID:0080011']
6293,1148,polydactyly,"""A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot."" [url:https\://en.wikipedia.org/wiki/Polydactyly]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4410', 'ICD10CM:Q69', 'ICD9CM:755.0', 'MESH:C562429', 'MESH:D017689', 'NCI:C87110', 'OMIM:174200', 'OMIM:174500', 'OMIM:174700', 'OMIM:603596', 'SNOMEDCT_US_2022_09_01:205119005', 'UMLS_CUI:C0152427', 'UMLS_CUI:C0220697']",['DOID:0080015']
6295,11482,hemopericardium,"""A pericardial effusion that results from blood in the pericardial sac."" [url:http\://en.wikipedia.org/wiki/Hemopericardium]",['NCIthesaurus'],"['ICD9CM:423.0', 'MESH:D010490', 'NCI:C111644', 'SNOMEDCT_US_2022_09_01:155339006', 'UMLS_CUI:C0019064']",['DOID:118']
6296,11486,Horner's syndrome,"""An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics."" [url:https\://pubmed.ncbi.nlm.nih.gov/14610154/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6670', 'ICD10CM:G90.2', 'MESH:D006732', 'NCI:C28155', 'OMIM:143000', 'SNOMEDCT_US_2022_09_01:192922002', 'UMLS_CUI:C0019937']",['DOID:11504']
6299,115,cardiac tamponade,"""A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch."" [url:http\://en.wikipedia.org/wiki/Cardiac_tamponade, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000194.htm]",['NCIthesaurus'],"['ICD10CM:I31.4', 'ICD9CM:423.3', 'MESH:D002305', 'NCI:C50481', 'SNOMEDCT_US_2022_09_01:266295005', 'UMLS_CUI:C0007177']",['DOID:118']
6304,11507,rumination disorder,"""An eating disorder that is characterized by effortless regurgitation of most meals following consumption."" [url:http\://en.wikipedia.org/wiki/Rumination_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7594', 'ICD9CM:307.53', 'MESH:D000079562', 'NCI:C92567', 'SNOMEDCT_US_2022_09_01:37941009', 'UMLS_CUI:C0154575']",['DOID:8670']
6314,11549,Adie syndrome,"""A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon."" [url:http\://en.wikipedia.org/wiki/Adie_syndrome, url:http\://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Adie's%20syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5749', 'MESH:D000270', 'NCI:C34357', 'OMIM:103100', 'SNOMEDCT_US_2022_09_01:123051004', 'UMLS_CUI:C0001519']",['DOID:225']
6318,11555,Fuchs' endothelial dystrophy,"""A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision."" [url:http\://en.wikipedia.org/wiki/Fuchs%27_dystrophy, url:http\://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy, url:http\://rarediseases.info.nih.gov/gard/10018/corneal-dystrophy-fuchs-endothelial-1/resources/1, url:http\://www.mayoclinic.org/diseases-conditions/fuchs-dystrophy/basics/definition/con-20023893?_ga=1.163328703.2017809229.1415219956]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0003946', 'GARD:10018', 'ICD10CM:H18.51', 'MESH:D005642', 'NCI:C84721', 'OMIM:136800', 'OMIM:610158', 'OMIM:613267', 'OMIM:613268', 'OMIM:613269', 'OMIM:613270', 'OMIM:613271', 'OMIM:615523', 'ORDO:98974', 'SNOMEDCT_US_2022_09_01:16949007', 'UMLS_CUI:C0016781']",['DOID:0060443']
6321,1156,chondrocalcinosis,"""An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint."" [url:http\://en.wikipedia.org/wiki/Chondrocalcinosis, url:http\://my.clevelandclinic.org/disorders/pseudogout/hic_pseudogout.aspx, url:http\://www.mayoclinic.com/health/pseudogout/DS00717, url:http\://www.merckmanuals.com/professional/sec04/ch035/ch035c.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000421.htm, url:http\://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/pseudogout.asp]","['DO_rare_slim', 'NCIthesaurus']","['ICD9CM:712.1', 'NCI:C34955', 'OMIM:118600', 'OMIM:118610', 'OMIM:600668', 'ORDO:1416', 'SNOMEDCT_US_2022_09_01:201624004', 'SNOMEDCT_US_2022_09_01:201625003', 'UMLS_CUI:C0033802', 'UMLS_CUI:C0157852']",['DOID:848']
6325,11572,Listeria meningitis,"""A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21877182]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease', 'zoonotic_infectious_disease']","['MESH:D008584', 'SNOMEDCT_US_2022_09_01:230151007', 'UMLS_CUI:C0025293']",['DOID:9470']
6326,11573,listeriosis,"""A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth."" [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001380.htm]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus', 'zoonotic_infectious_disease']","['ICD10CM:A32', 'ICD9CM:027.0', 'MESH:D008088', 'NCI:C82994', 'SNOMEDCT_US_2022_09_01:186315001', 'UMLS_CUI:C0023860']",['DOID:0050338']
6327,11574,streptococcal meningitis,"""A bacterial meningitis that has_material_basis_in streptococcal bacteria."" [url:https\://medlineplus.gov/ency/article/000607.htm]",['DO_infectious_disease_slim'],"['ICD10CM:G00.2', 'ICD9CM:320.2', 'SNOMEDCT_US_2022_09_01:4510004', 'UMLS_CUI:C0154639']",['DOID:9470']
6328,11577,Cauda equina syndrome,"""A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord."" [url:http\://en.wikipedia.org/wiki/Cauda_equina_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10987', 'ICD10CM:G83.4', 'ICD9CM:344.6', 'MESH:D000077684', 'NCI:C35436', 'SNOMEDCT_US_2022_09_01:89356000', 'UMLS_CUI:C0392548']",['DOID:574']
6330,11589,Riley-Day syndrome,"""A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31."" [url:https\://pubmed.ncbi.nlm.nih.gov/26769677/]",['NCIthesaurus'],"['ICD10CM:G90.1', 'MESH:D004402', 'NCI:C84706', 'OMIM:223900', 'SNOMEDCT_US_2022_09_01:204087006', 'UMLS_CUI:C0013364']",['DOID:0050548']
6335,11599,Frey syndrome,"""An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways."" [url:https\://pubmed.ncbi.nlm.nih.gov/12269550/]",['DO_rare_slim'],"['GARD:6467', 'MESH:D013547', 'OMIM:144100', 'SNOMEDCT_US_2022_09_01:56046002', 'UMLS_CUI:C0038994']",['DOID:11465']
6337,11603,infant gynecomastia,"""A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age."" [url:https\://www.aafp.org/afp/2012/0401/p716.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/28260521]",['NCIthesaurus'],"['ICD10CM:P83.4', 'ICD9CM:778.7', 'MESH:D006177', 'NCI:C117312', 'SNOMEDCT_US_2022_09_01:34831003', 'UMLS_CUI:C1449721']",['DOID:3463']
6338,11608,fungal meningitis,"""A meningitis that has_material_basis_in a fungal infection."" [url:https\://en.wikipedia.org/wiki/Fungal_meningitis]",['DO_infectious_disease_slim'],"['MESH:D016921', 'SNOMEDCT_US_2022_09_01:24321005', 'UMLS_CUI:C0085438']",['DOID:9471']
6339,11612,polycystic ovary syndrome,"""An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight."" [url:http\://ghr.nlm.nih.gov/glossary=polycysticovarysyndrome, url:https\://en.wikipedia.org/wiki/Polycystic_ovary_syndrome, url:https\://pubmed.ncbi.nlm.nih.gov/28791858, url:https\://www.ncbi.nlm.nih.gov/pubmed/20591140]",['NCIthesaurus'],"['EFO:0000660', 'ICD10CM:E28.2', 'ICD9CM:256.4', 'MESH:D011085', 'NCI:C26862', 'OMIM:184700', 'SNOMEDCT_US_2022_09_01:69878008', 'UMLS_CUI:C0032460']",['DOID:1414']
6351,11656,cicatricial pemphigoid,"""A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin."" [url:http\://en.wikipedia.org/wiki/Cicatricial_pemphigoid, url:http\://www.merckmanuals.com/professional/eye_disorders/conjunctival_and_scleral_disorders/cicatricial_pemphigoid.html]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5913', 'ICD10CM:L12.1', 'ICD9CM:694.6', 'ICD9CM:694.61', 'MESH:D010390', 'NCI:C34907', 'OMIM:164185', 'SNOMEDCT_US_2022_09_01:34250006', 'SNOMEDCT_US_2022_09_01:76092003', 'UMLS_CUI:C0030804', 'UMLS_CUI:C0157721']",['DOID:0080841']
6352,1166,palindromic rheumatism,"""An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms."" [url:http\://arthritis.about.com/od/diseasesandconditions/a/palindromic.htm, url:http\://en.wikipedia.org/wiki/Palindromic_rheumatism, url:http\://www.palindromicrheumatism.org/, url:https\://rarediseases.info.nih.gov/diseases/7304/palindromic-rheumatism, url:https\://www.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/expert-answers/palindromic-rheumatism/faq-20058516]",['DO_rare_slim'],"['GARD:7304', 'ICD10CM:M12.3', 'ICD9CM:719.3', 'ICD9CM:719.31', 'MESH:C538103', 'SNOMEDCT_US_2022_09_01:202455001', 'SNOMEDCT_US_2022_09_01:202457009', 'UMLS_CUI:C0085574', 'UMLS_CUI:C0158178']",['DOID:848']
6359,11678,onchocerciasis,"""A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy."" [url:http\://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7252', 'ICD10CM:B73', 'ICD9CM:125.3', 'MESH:D009855', 'NCI:C34861', 'SNOMEDCT_US_2022_09_01:38539003', 'UMLS_CUI:C0029001']",['DOID:1080']
6364,11695,portal vein thrombosis,"""A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein."" [url:http\://en.wikipedia.org/wiki/Portal_vein_thrombosis]",['NCIthesaurus'],"['ICD10CM:I81', 'ICD9CM:452', 'NCI:C78565', 'SNOMEDCT_US_2022_09_01:155455003', 'UMLS_CUI:C0155773']",['DOID:272']
6365,117,heart cancer,"""A cardiovascular cancer located_in the heart."" [url:http\://en.wikipedia.org/wiki/Heart_cancer]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2619', 'ICD10CM:C38.0', 'ICD9CM:164.1', 'MESH:D006338', 'NCI:C3081', 'NCI:C3548', 'SNOMEDCT_US_2022_09_01:126730001', 'SNOMEDCT_US_2022_09_01:93825008', 'UMLS_CUI:C0018809', 'UMLS_CUI:C0153500']",['DOID:176']
6369,11712,lipoatrophic diabetes mellitus,"""A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy."" [url:http\://en.wikipedia.org/wiki/Lipoatrophic_diabetes]",['NCIthesaurus'],"['MESH:D003923', 'NCI:C34537', 'SNOMEDCT_US_2022_09_01:408543001', 'UMLS_CUI:C0011859']",['DOID:9352']
6370,11713,diabetic angiopathy,"""A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes."" [url:https\://en.wikipedia.org/wiki/Diabetic_angiopathy]",['NCIthesaurus'],"['ICD9CM:250.7', 'MESH:D003925', 'NCI:C35610', 'SNOMEDCT_US_2022_09_01:127014009', 'UMLS_CUI:C0011871', 'UMLS_CUI:C0011875']",['DOID:341']
6371,11714,gestational diabetes,"""A diabetes mellitus that manifests during pregnancy."" [url:https\://pubmed.ncbi.nlm.nih.gov/26824237/]",['NCIthesaurus'],"['EFO:0004593', 'ICD10CM:O24.4', 'MESH:D016640', 'NCI:C34942', 'SNOMEDCT_US_2022_09_01:11687002', 'UMLS_CUI:C0085207']",['DOID:9351']
6372,11716,prediabetes syndrome,"""A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes."" [url:https\://pubmed.ncbi.nlm.nih.gov/26280340/]",['NCIthesaurus'],"['ICD10CM:R73.03', 'MESH:D011236', 'NCI:C122685', 'SNOMEDCT_US_2022_09_01:15777000', 'UMLS_CUI:C0362046']",['DOID:4194']
6373,11717,neonatal diabetes,"""A diabetes mellitus that is characterized by hyperglycemia occuring within the first 6 months of life."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928785/]","['DO_FlyBase_slim', 'NCIthesaurus']","['ICD10CM:P70.2', 'ICD9CM:775.1', 'NCI:C99248', 'SNOMEDCT_US_2022_09_01:49817004', 'UMLS_CUI:C0158981']",['DOID:9351']
6377,11720,distal myopathy,"""A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands."" [url:https\://rarediseases.org/rare-diseases/distal-myopathy/]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:G71.09', 'MESH:D049310', 'NCI:C84675', 'ORDO:399096', 'ORDO:5448', 'ORDO:59135', 'SNOMEDCT_US_2022_09_01:58795000', 'UMLS_CUI:C0751336']",['DOID:9884']
6378,11721,glycogen storage disease VII,"""A glycogen storage disease that is characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGL gene, which encodes liver glycogen phosphorylase, on chromosome 14q22."" [url:https\://pubmed.ncbi.nlm.nih.gov/25266922/]",['NCIthesaurus'],"['ICD10CM:E74.09', 'MESH:D006014', 'NCI:C118437', 'OMIM:232800', 'SNOMEDCT_US_2022_09_01:89597008', 'UMLS_CUI:C0017926']",['DOID:2747']
6379,11722,myotonic dystrophy type 1,"""A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region."" [url:http\://en.wikipedia.org/wiki/Myotonic_dystrophy, url:http\://ghr.nlm.nih.gov/condition/myotonic-dystrophy, url:http\://omim.org/entry/160900, url:http\://www.genome.gov/25521207, url:http\://www.ncbi.nlm.nih.gov/books/NBK1165/]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:8310', 'ICD10CM:G71.11', 'ICD9CM:359.21', 'MESH:D009223', 'NCI:C84914', 'OMIM:160900', 'SNOMEDCT_US_2022_09_01:1177122009', 'UMLS_CUI:C0027126']",['DOID:450']
6380,11723,Duchenne muscular dystrophy,"""A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy."" [url:http\://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy, url:http\://omim.org/entry/300377, url:http\://www.genome.gov/19518854]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6291', 'MESH:D020388', 'NCI:C75482', 'OMIM:310200', 'SNOMEDCT_US_2022_09_01:155095006', 'UMLS_CUI:C0013264']",['DOID:9884']
6381,11724,limb-girdle muscular dystrophy,"""A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles."" [url:http\://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy, url:http\://www.ncbi.nlm.nih.gov/books/NBK1408/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6907', 'ICD10CM:G71.03', 'MESH:D049288', 'NCI:C84828', 'ORDO:263', 'SNOMEDCT_US_2022_09_01:56096001', 'UMLS_CUI:C0686353']",['DOID:9884']
6382,11725,Cornelia de Lange syndrome,"""A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features."" [url:http\://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome, url:http\://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome, url:http\://www.omim.org/entry/122470, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/30/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10109', 'ICD10CM:Q87.19', 'MESH:D003635', 'NCI:C75016', 'OMIM:PS122470', 'ORDO:199', 'SNOMEDCT_US_2022_09_01:40354009', 'UMLS_CUI:C0270972']",['DOID:225']
6383,11726,Emery-Dreifuss muscular dystrophy,"""A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle."" [url:http\://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy, url:http\://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6329', 'MESH:D020389', 'NCI:C84685', 'OMIM:PS310300', 'ORDO:261', 'SNOMEDCT_US_2022_09_01:129620000', 'UMLS_CUI:C0410189']",['DOID:9884']
6385,11729,Lyme disease,"""A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system."" [url:http\://www.cdc.gov/lyme/transmission/index.html]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'tick-borne_infectious_disease', 'zoonotic_infectious_disease']","['GARD:12073', 'ICD10CM:A69.2', 'ICD9CM:088.81', 'MESH:D008193', 'MESH:D020852', 'NCI:C45161', 'SNOMEDCT_US_2022_09_01:154376000', 'SNOMEDCT_US_2022_09_01:715507005', 'UMLS_CUI:C0024198', 'UMLS_CUI:C0752235']",['DOID:0050338']
6390,11750,Bordetella parapertussis whooping cough,"""A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose ."" [url:http\://en.wikipedia.org/wiki/Pertussis]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease']","['ICD10CM:A37.1', 'ICD9CM:033.1', 'SNOMEDCT_US_2022_09_01:77116006', 'UMLS_CUI:C0275742']",['DOID:1116']
6396,1176,bronchial disease,"""A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11685087]",['DO_RAD_slim'],"['MESH:D001982', 'SNOMEDCT_US_2022_09_01:41427001', 'UMLS_CUI:C0006261']",['DOID:0050161']
6397,11760,Kohler's disease,"""An osteochondrosis that results_in death and collapse located_in navicular bone of foot."" [url:http\://en.wikipedia.org/wiki/K%C3%B6hler_disease]",['DO_rare_slim'],"['GARD:6842', 'ICD9CM:732.5', 'SNOMEDCT_US_2022_09_01:32491009', 'UMLS_CUI:C0158444']",['DOID:8125']
6408,11797,chronic laryngitis,"""A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease."" [url:http\://en.wikipedia.org/wiki/Laryngitis, url:http\://www.merck.com/mmhe/sec19/ch222/ch222d.html#sec19-ch222-ch222d-263]",['NCIthesaurus'],"['ICD10CM:J37.0', 'ICD9CM:476.0', 'NCI:C26975', 'SNOMEDCT_US_2022_09_01:155535001', 'UMLS_CUI:C0155836']",['DOID:3437']
6409,118,pericardial effusion,"""A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity."" [url:http\://en.wikipedia.org/wiki/Pericardial_effusion]",['NCIthesaurus'],"['MESH:D010490', 'NCI:C3319', 'SNOMEDCT_US_2022_09_01:70370001', 'UMLS_CUI:C0031039']",['DOID:0050829']
6410,11801,protein-energy malnutrition,"""A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation."" [url:https\://en.wikipedia.org/wiki/Protein%E2%80%93energy_malnutrition]",['NCIthesaurus'],"['ICD10CM:E46', 'ICD9CM:263.9', 'MESH:D011502', 'NCI:C34952', 'SNOMEDCT_US_2022_09_01:72608005', 'UMLS_CUI:C0033677']",['DOID:5113']
6413,11812,bladder sarcoma,"""A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder."" [url:https\://my.clevelandclinic.org/health/diseases/16512-genitourinary-sarcomas]",['NCIthesaurus'],"['NCI:C4669', 'SNOMEDCT_US_2022_09_01:278046008', 'UMLS_CUI:C0349666']",['DOID:11054']
6419,11819,ureter cancer,"""A urinary system cancer that is located_in the ureter."" [url:http\://en.wikipedia.org/wiki/Ureter_cancer]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C66', 'ICD9CM:189.2', 'MESH:D014516', 'NCI:C7543', 'OMIM:191600', 'SNOMEDCT_US_2022_09_01:94121005', 'UMLS_CUI:C0153619']",['DOID:3996']
6422,11823,hepatorenal syndrome,"""An acute kidney failure that is characterized by severe renal vasoconstriction."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK470565/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6610', 'ICD10CM:K76.7', 'ICD9CM:572.4', 'MESH:D006530', 'NCI:C113400', 'SNOMEDCT_US_2022_09_01:51292008', 'UMLS_CUI:C0019212']",['DOID:3021']
6423,11824,multicentric reticulohistiocytosis,"""A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis."" [url:http\://en.wikipedia.org/wiki/Multicentric_reticulohistiocytosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/23130232]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7103', 'ICD10CM:E78.81', 'NCI:C27896', 'ORDO:139436', 'SNOMEDCT_US_2022_09_01:84241008', 'UMLS_CUI:C0311284']",['DOID:225']
6425,11830,myopia,"""A refractive error characterized by the inability to see farther objects clearly."" [url:http\://en.wikipedia.org/wiki/Myopia, url:http\://ghr.nlm.nih.gov/glossary=myopia, url:http\://www.mayoclinic.org/diseases-conditions/nearsightedness/basics/definition/con-20027548]",['NCIthesaurus'],"['EFO:0003927', 'ICD10CM:H52.1', 'ICD9CM:367.1', 'MESH:D009216', 'NCI:C102533', 'OMIM:160700', 'OMIM:255500', 'OMIM:300613', 'OMIM:310460', 'OMIM:603221', 'OMIM:608367', 'OMIM:608474', 'OMIM:608908', 'OMIM:609256', 'OMIM:609257', 'OMIM:609258', 'OMIM:609259', 'OMIM:609994', 'OMIM:609995', 'OMIM:610320', 'OMIM:612554', 'OMIM:612717', 'OMIM:613959', 'OMIM:613969', 'OMIM:614166', 'OMIM:614167', 'OMIM:615420', 'OMIM:615431', 'OMIM:615946', 'SNOMEDCT_US_2022_09_01:155133003', 'UMLS_CUI:C0027092']",['DOID:9835']
6428,11836,clubfoot,"""A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities."" [url:http\://en.wikipedia.org/wiki/Club_foot, url:https\://www.ncbi.nlm.nih.gov/pubmed/17610748]",['NCIthesaurus'],"['ICD10CM:Q66.89', 'ICD9CM:754.51', 'MESH:D003025', 'NCI:C84641', 'OMIM:119800', 'SNOMEDCT_US_2022_09_01:33163000', 'UMLS_CUI:C0009081']",['DOID:0080006']
6429,11838,penis sarcoma,"""A sarcoma and malignant neoplasm of penis that is located_in the penis."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020210/]",['NCIthesaurus'],"['NCI:C7730', 'UMLS_CUI:C0238352']",['DOID:11615']
6431,1184,nephrotic syndrome,"""A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability."" [url:https\://en.wikipedia.org/wiki/Nephrotic_syndrome, url:https\://www.niddk.nih.gov/health-information/kidney-disease/nephrotic-syndrome-adults]",['NCIthesaurus'],"['ICD10CM:N04', 'ICD9CM:581', 'MESH:D009404', 'NCI:C34845', 'SNOMEDCT_US_2022_09_01:155851004', 'UMLS_CUI:C0027726']",['DOID:2527']
6436,11851,indeterminate leprosy,"""A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules."" [url:https\://rarediseases.org/rare-diseases/leprosy/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875986/]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD10CM:A30.0', 'ICD9CM:030.2', 'SNOMEDCT_US_2022_09_01:14386001', 'UMLS_CUI:C0021192']",['DOID:1024']
6446,11887,ureter leiomyoma,"""An ureteral benign neoplasm that derives_from smooth muscle cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23894911]",['NCIthesaurus'],"['NCI:C6161', 'UMLS_CUI:C1336875']",['DOID:11885']
6449,119,vaginal cancer,"""A female reproductive system cancer that is located_in the vagina."" [url:http\://www.cancer.gov/dictionary?CdrID=523460]","['DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['GARD:9348', 'ICD10CM:C52', 'ICD9CM:184.0', 'MESH:D014625', 'NCI:C3437', 'NCI:C7410', 'SNOMEDCT_US_2022_09_01:126921000', 'SNOMEDCT_US_2022_09_01:188210000', 'UMLS_CUI:C0042237', 'UMLS_CUI:C0042258']",['DOID:120']
6450,11905,labium majus cancer,"""A vulva cancer that is located_in the labium majus."" [url:https\://pubmed.ncbi.nlm.nih.gov/16006794/]",['NCIthesaurus'],"['ICD10CM:C51.0', 'ICD9CM:184.1', 'NCI:C7638', 'SNOMEDCT_US_2022_09_01:93850006', 'UMLS_CUI:C0496814']",['DOID:1245']
6453,11917,tinea cruris,"""A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze."" [url:http\://en.wikipedia.org/wiki/Tinea_cruris]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD9CM:110.3', 'NCI:C34535', 'SNOMEDCT_US_2022_09_01:59089002', 'UMLS_CUI:C0011638']",['DOID:8913']
6454,1192,peripheral nervous system neoplasm,"""A nervous system cancer that is located in the peripheral nervous system."" [url:http\://en.wikipedia.org/wiki/Peripheral_nervous_system]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['MESH:D010524', 'MESH:D018317', 'NCI:C3321', 'NCI:C4972', 'SNOMEDCT_US_2022_09_01:126980002', 'SNOMEDCT_US_2022_09_01:189946005', 'UMLS_CUI:C0031118', 'UMLS_CUI:C0206727']",['DOID:3093']
6455,11920,tracheal cancer,"""A respiratory system cancer that is located_in the trachea."" [url:http\://en.wikipedia.org/wiki/Lung_cancer]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C33', 'ICD9CM:162.0', 'NCI:C9346', 'SNOMEDCT_US_2022_09_01:187855003', 'UMLS_CUI:C0153489']",['DOID:0050615']
6456,11934,head and neck cancer,"""An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."" [url:http\://apps.who.int/bookorders/anglais/detart1.jsp?sesslan=1&codlan=1&codcol=70&codcch=9, url:http\://en.wikipedia.org/wiki/Head_and_neck_cancer, url:http\://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck, url:http\://www.cancer.gov/dictionary?CdrID=257519]","['DO_cancer_slim', 'DO_CFDE_slim', 'DO_MGI_slim', 'DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['GARD:12425', 'MESH:D006258', 'NCI:C3077', 'SNOMEDCT_US_2022_09_01:255055008', 'UMLS_CUI:C0018671']",['DOID:0050686']
6463,11976,botulism,"""A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F."" [url:http\://en.wikipedia.org/wiki/Botulism, url:https\://en.wikipedia.org/wiki/Botulism, url:https\://www.cdc.gov/botulism/index.html]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['GARD:943', 'ICD10CM:A05.1', 'MESH:D001906', 'NCI:C84599', 'SNOMEDCT_US_2022_09_01:154276003', 'UMLS_CUI:C0006057']",['DOID:0050338']
6465,11983,Prader-Willi syndrome,"""A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity."" [url:https\://ghr.nlm.nih.gov/condition/prader-willi-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5575', 'ICD10CM:Q87.11', 'ICD9CM:759.81', 'MESH:D011218', 'NCI:C75463', 'OMIM:176270', 'ORDO:739', 'SNOMEDCT_US_2022_09_01:205794007', 'UMLS_CUI:C0032897']",['DOID:0080014']
6466,11984,hypertrophic cardiomyopathy,"""An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause."" [url:http\://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy, url:http\://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/cm/]","['DO_rare_slim', 'NCIthesaurus']","['ICD9CM:425.1', 'KEGG:05410', 'MESH:D002312', 'NCI:C34449', 'ORDO:217569', 'SNOMEDCT_US_2022_09_01:389998005', 'UMLS_CUI:C0007194']",['DOID:0060036']
6468,11990,ulceroglandular tularemia,"""A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion."" [url:http\://www.cdc.gov/tularemia/signssymptoms/]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'tick-borne_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A21.0', 'ICD9CM:021.0', 'SNOMEDCT_US_2022_09_01:37722001', 'UMLS_CUI:C0152941']",['DOID:2123']
6469,11991,osteopoikilosis,"""An osteosclerosis that results_in numerous bone islands located_in skeleton."" [url:http\://en.wikipedia.org/wiki/Osteopoikilosis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4158', 'ICD10CM:Q78.8', 'ICD9CM:756.53', 'MESH:D010023', 'NCI:C84985', 'SNOMEDCT_US_2022_09_01:9147009', 'UMLS_CUI:C0029455']",['DOID:4254']
6473,120,female reproductive organ cancer,"""A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva."" [url:http\://en.wikipedia.org/wiki/Template\:Female_genital_neoplasia, url:http\://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:C57', 'ICD9CM:184', 'MESH:D005833', 'NCI:C3053', 'NCI:C4913', 'SNOMEDCT_US_2022_09_01:126907002', 'SNOMEDCT_US_2022_09_01:188207007', 'UMLS_CUI:C0017416', 'UMLS_CUI:C0153585', 'UMLS_CUI:C0699889']",['DOID:193']
6475,12002,trachea sarcoma,"""A sarcoma and malignant tumor of trachea that is located_in the trachea."" [url:http\://en.wikipedia.org/wiki/Lung_cancer]",['NCIthesaurus'],"['NCI:C6050', 'UMLS_CUI:C1336774']",['DOID:11920']
6476,12003,trachea squamous cell carcinoma,"""A squamous cell carcinoma that is located_in the trachea."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26066883]",['NCIthesaurus'],"['NCI:C4448', 'SNOMEDCT_US_2022_09_01:254620000', 'UMLS_CUI:C0345946']",['DOID:4876']
6480,12028,Conn's syndrome,"""An adrenal adenoma characterized by the over production of aldosterone."" [url:http\://en.wikipedia.org/wiki/Conn%27s_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7456', 'ICD10CM:E26.01', 'ICD9CM:255.12', 'MESH:D006929', 'NCI:C34510', 'SNOMEDCT_US_2022_09_01:13536004', 'UMLS_CUI:C1384514']",['DOID:656']
6483,12030,panuveitis,"""An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid."" [url:https\://rarediseases.info.nih.gov/diseases/8577/panuveitis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8577', 'ICD10CM:H44.11', 'ICD9CM:360.12', 'MESH:D015864', 'NCI:C84989', 'SNOMEDCT_US_2022_09_01:75614007', 'UMLS_CUI:C0030343']",['DOID:13141']
6485,1205,allergic disease,"""An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods."" [url:http\://en.wikipedia.org/wiki/Allergy]",['NCIthesaurus'],"['ICD10CM:T78.40', 'MESH:D006967', 'NCI:C3114', 'SNOMEDCT_US_2022_09_01:257550005', 'UMLS_CUI:C0020517']",['DOID:2914']
6486,12053,cryptococcosis,"""An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii."" [url:http\://en.wikipedia.org/wiki/Cryptococcosis]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6218', 'ICD10CM:B45', 'ICD9CM:117.5', 'MESH:D003453', 'NCI:C2967', 'SNOMEDCT_US_2022_09_01:42386007', 'UMLS_CUI:C0010414']",['DOID:2473']
6488,1206,Rett syndrome,"""A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability."" [url:http\://www.nichd.nih.gov/health/topics/rett_syndrome.cfm, url:http\://www.ninds.nih.gov/disorders/rett/detail_rett.htm, url:https\://medlineplus.gov/ency/article/001536.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5696', 'ICD10CM:F84.2', 'MESH:D015518', 'NCI:C75488', 'OMIM:312750', 'OMIM:613454', 'SNOMEDCT_US_2022_09_01:192583003', 'UMLS_CUI:C0035372']",['DOID:0060040']
6495,12096,sodoku disease,"""A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain."" [url:http\://en.wikipedia.org/wiki/Rat_bite_fever, url:http\://protmed.uoradea.ro/facultate/anale/protectia_mediului/2009/miscellaneous/06.Indries%20Mirela%202.pdf]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A25.0', 'ICD9CM:026.0', 'MESH:D011906', 'SNOMEDCT_US_2022_09_01:19044004', 'UMLS_CUI:C0152062']",['DOID:0050338']
6497,121,vaginal disease,"""A female reproductive system disease that is located_in the vagina."" [url:https\://en.wikipedia.org/wiki/Vaginal_disease]",['NCIthesaurus'],"['MESH:D014623', 'NCI:C26910', 'SNOMEDCT_US_2022_09_01:25658005', 'UMLS_CUI:C0042251']",['DOID:229']
6498,1210,optic neuritis,"""An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision."" [url:https\://www.mayoclinic.org/diseases-conditions/optic-neuritis/symptoms-causes/syc-20354953]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7320', 'ICD10CM:H46', 'ICD9CM:377.3', 'MESH:D009902', 'NCI:C84950', 'SNOMEDCT_US_2022_09_01:194051001', 'UMLS_CUI:C0029134']",['DOID:1891']
6501,12117,pulmonary alveolar microlithiasis,"""A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs."" [url:https\://pubmed.ncbi.nlm.nih.gov/27514591/]",['DO_rare_slim'],"['GARD:11894', 'ICD10CM:J84.02', 'ICD9CM:516.2', 'MESH:C562405', 'OMIM:265100', 'SNOMEDCT_US_2022_09_01:196160008', 'UMLS_CUI:C0155912']",['DOID:850']
6502,12118,pulmonary hemosiderosis,"""A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h."" [url:http\://en.wikipedia.org/wiki/Brown_induration, url:http\://en.wikipedia.org/wiki/Idiopathic_pulmonary_haemosiderosis, url:https\://erj.ersjournals.com/content/24/1/162.full]",['DO_rare_slim'],"['ICD10CM:J84.03', 'ICD9CM:516.1', 'MESH:C536281', 'OMIM:178550', 'OMIM:235500', 'ORDO:99931', 'SNOMEDCT_US_2022_09_01:190848001', 'UMLS_CUI:C0020807']",['DOID:12119']
6503,12119,hemosiderosis,"""An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload."" [url:http\://en.wikipedia.org/wiki/Hemosiderosis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6595', 'MESH:D006486', 'SNOMEDCT_US_2022_09_01:39011001', 'UMLS_CUI:C0019114']",['DOID:2351']
6504,12120,pulmonary alveolar proteinosis,"""A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange."" [url:http\://en.wikipedia.org/wiki/Pulmonary_alveolar_proteinosis]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:J84.01', 'ICD9CM:516.0', 'MESH:D011649', 'NCI:C85037', 'OMIM:265120', 'OMIM:300770', 'OMIM:610913', 'OMIM:610921', 'OMIM:614370', 'ORDO:264675', 'SNOMEDCT_US_2022_09_01:10501004', 'UMLS_CUI:C0034050']",['DOID:850']
6508,12128,pica disease,"""An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients."" [url:http\://en.wikipedia.org/wiki/Pica_%28disorder%29]",['NCIthesaurus'],"['ICD9CM:307.52', 'MESH:D010842', 'NCI:C92566', 'SNOMEDCT_US_2022_09_01:14077003', 'UMLS_CUI:C0031873']",['DOID:8670']
6509,12129,bulimia nervosa,"""An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem."" [url:http\://en.wikipedia.org/wiki/Bulimia_nervosa]",['NCIthesaurus'],"['ICD10CM:F50.2', 'MESH:D002032', 'SNOMEDCT_US_2022_09_01:78004001', 'UMLS_CUI:C0006370']",['DOID:8670']
6510,12132,granulomatosis with polyangiitis,"""An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels."" [url:https\://en.wikipedia.org/wiki/Granulomatosis_with_polyangiitis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7880', 'ICD10CM:M31.3', 'ICD9CM:446.4', 'MESH:D014890', 'NCI:C3444', 'OMIM:608710', 'SNOMEDCT_US_2022_09_01:195353004', 'UMLS_CUI:C3495801']",['DOID:417']
6511,12134,factor VIII deficiency,"""A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged."" [url:http\://en.wikipedia.org/wiki/Hemophilia_A]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6591', 'ICD10CM:D66', 'ICD9CM:286.0', 'MESH:D006467', 'NCI:C27146', 'OMIM:306700', 'ORDO:98878', 'SNOMEDCT_US_2022_09_01:28293008', 'UMLS_CUI:C0019069']",['DOID:1247']
6512,12139,dysthymic disorder,"""A mood disorder that involves the presence of a low mood almost daily over a span of at least two years."" [url:http\://en.wikipedia.org/wiki/Mood_disorder]",['NCIthesaurus'],"['ICD10CM:F34.1', 'ICD9CM:300.4', 'MESH:D019263', 'NCI:C34562', 'SNOMEDCT_US_2022_09_01:192384008', 'UMLS_CUI:C0013415']",['DOID:3324']
6514,12140,Chagas disease,"""A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis."" [url:http\://en.wikipedia.org/wiki/Chagas_disease]","['DO_infectious_disease_slim', 'DO_rare_slim', 'zoonotic_infectious_disease']","['GARD:6030', 'ICD9CM:086.2', 'KEGG:05142', 'SNOMEDCT_US_2022_09_01:186817003', 'UMLS_CUI:C0007932']",['DOID:10113']
6518,12148,alveolar echinococcosis,"""An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain."" [url:http\://en.wikipedia.org/wiki/Echinococcosis]","['DO_infectious_disease_slim', 'DO_rare_slim']","['GARD:207', 'ICD10CM:B67.7', 'ICD9CM:122.7', 'MESH:C536591', 'SNOMEDCT_US_2022_09_01:21009004', 'UMLS_CUI:C0152069']",['DOID:1496']
6519,12155,lymphocytic choriomeningitis,"""A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in Lymphocytic choriomeningitis virus, which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting."" [url:http\://en.wikipedia.org/wiki/Lymphocytic_choriomeningitis]","['DO_infectious_disease_slim', 'zoonotic_infectious_disease']","['ICD10CM:A87.2', 'MESH:D008216', 'NCI:C174114', 'SNOMEDCT_US_2022_09_01:192668002', 'UMLS_CUI:C0024266']",['DOID:934']
6521,12157,aseptic meningitis,"""A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2728900/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23622323]",['NCIthesaurus'],"['ICD10CM:G03.0', 'MESH:D008582', 'NCI:C118299', 'SNOMEDCT_US_2022_09_01:186490006', 'UMLS_CUI:C0025290']",['DOID:9471']
6531,1217,fascioloidiasis,"""A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna."" [url:http\://en.wikipedia.org/wiki/Fascioloides_magna]",['DO_infectious_disease_slim'],"['MESH:D005213', 'SNOMEDCT_US_2022_09_01:69550000', 'UMLS_CUI:C0015655']",['DOID:883']
6535,12176,goiter,"""A thyroid gland disease that involves an abnormal enlargement of the thyroid gland."" [url:http\://www.thyroid.org/patients/patient_brochures/goiter.html]",['NCIthesaurus'],"['ICD10CM:E04.9', 'ICD9CM:240.9', 'MESH:D006042', 'NCI:C26785', 'SNOMEDCT_US_2022_09_01:237568003', 'UMLS_CUI:C0018021']",['DOID:50']
6536,12177,common variable immunodeficiency,"""An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens."" [url:http\://en.wikipedia.org/wiki/Common_variable_immunodeficiency, url:http\://www.merck.com/mmpe/sec13/ch164/ch164g.html]",['DO_rare_slim'],"['GARD:6140', 'ICD10CM:D83', 'ICD9CM:279.06', 'MESH:D017074', 'OMIM:PS607594', 'ORDO:1572', 'SNOMEDCT_US_2022_09_01:191010004', 'UMLS_CUI:C0009447']",['DOID:2583']
6537,12179,tinea corporis,"""A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly."" [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000877.htm]",['DO_infectious_disease_slim'],"['ICD9CM:110.5', 'SNOMEDCT_US_2022_09_01:186994008', 'UMLS_CUI:C0546826']",['DOID:8913']
6538,1218,echinostomiasis,"""A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain."" [url:http\://www.dpd.cdc.gov/dpdx/HTML/Echinostomiasis.htm]",['DO_infectious_disease_slim'],"['ICD10CM:B66.8', 'MESH:D004451', 'SNOMEDCT_US_2022_09_01:36607007', 'UMLS_CUI:C0013514']",['DOID:883']
6539,12185,otosclerosis,"""An otitis interna characterized by an abnormal bone growth in the middle ear."" [url:http\://en.wikipedia.org/wiki/Otosclerosis, url:http\://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/middle_ear_and_tympanic_membrane_disorders/otosclerosis.html?qt=otosclerosis&alt=sh]",['DO_rare_slim'],"['EFO:0004213', 'ICD10CM:H80.80', 'ICD9CM:387.8', 'OMIM:166800', 'OMIM:605727', 'OMIM:608244', 'OMIM:608484', 'OMIM:611571', 'OMIM:611572', 'OMIM:612096', 'OMIM:615589', 'ORDO:2794', 'SNOMEDCT_US_2022_09_01:194382008', 'UMLS_CUI:C0029696']",['DOID:2952']
6540,1219,dicrocoeliasis,"""A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain."" [url:http\://www.dpd.cdc.gov/dpdx/HTML/Dicrocoeliasis.htm]",['DO_infectious_disease_slim'],"['ICD10CM:B66.2', 'MESH:D004011', 'SNOMEDCT_US_2022_09_01:8410006', 'UMLS_CUI:C0012102']",['DOID:883']
6546,12205,dengue disease,"""A viral infectious disease that results in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding."" [url:http\://www.cdc.gov/dengue/fAQFacts/index.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:6254', 'ICD10CM:A90', 'ICD9CM:061', 'MESH:D003715', 'NCI:C34528', 'SNOMEDCT_US_2022_09_01:38362002', 'UMLS_CUI:C0011311']",['DOID:934']
6547,12206,dengue hemorrhagic fever,"""A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever."" [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC88892/pdf/cm000480.pdf, url:http\://www.nlm.nih.gov/MEDLINEPLUS/ency/article/001373.htm, url:http\://www.who.int/mediacentre/factsheets/fs117/en/, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue%20hemorrhagic%20fever]","['DO_infectious_disease_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['ICD10CM:A91', 'MESH:D019595', 'NCI:C34683', 'SNOMEDCT_US_2022_09_01:20927009', 'UMLS_CUI:C0019100']",['DOID:12205']
6548,12211,filarial elephantiasis,"""A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis."" [url:https\://www.cdc.gov/parasites/lymphaticfilariasis/index.html, url:https\://www.who.int/news-room/fact-sheets/detail/lymphatic-filariasis]","['DO_infectious_disease_slim', 'NCIthesaurus']","['MESH:D004605', 'NCI:C128360', 'SNOMEDCT_US_2022_09_01:240820001', 'UMLS_CUI:C0013884']",['DOID:1080']
6549,12215,oligohydramnios,"""A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion."" [url:http\://www.merriam-webster.com/medlineplus/oligohydramnios]",['NCIthesaurus'],"['ICD10CM:O41.0', 'ICD9CM:658.0', 'MESH:D016104', 'NCI:C92839', 'SNOMEDCT_US_2022_09_01:157051001', 'UMLS_CUI:C0079924']",['DOID:780']
6550,12217,Lewy body dementia,"""A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities."" [url:http\://en.wikipedia.org/wiki/Dementia_with_Lewy_bodies, url:http\://www.mayoclinic.org/diseases-conditions/lewy-body-dementia/basics/definition/CON-20025038]","['DO_rare_slim', 'NCIthesaurus']","['GARD:3243', 'ICD10CM:G31.83', 'ICD9CM:331.82', 'MESH:D020961', 'NCI:C84826', 'OMIM:127750', 'SNOMEDCT_US_2022_09_01:192808003', 'UMLS_CUI:C0752347']",['DOID:1307']
6555,12236,primary biliary cholangitis,"""A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts."" [url:http\://en.wikipedia.org/wiki/Primary_biliary_cirrhosis, url:http\://www.merckmanuals.com/professional/hepatic_and_biliary_disorders/fibrosis_and_cirrhosis/primary_biliary_cirrhosis_pbc.html?qt=primary%20biliary%20cirrhosis&alt=sh, url:https\://www.mayoclinic.org/diseases-conditions/primary-biliary-cholangitis-pbc/symptoms-causes/syc-20376874]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0004267', 'GARD:7459', 'ICD10CM:K74.3', 'ICD10CM:K74.5', 'ICD9CM:571.6', 'MESH:D008105', 'NCI:C27167', 'NCI:C51225', 'OMIM:PS109720', 'ORDO:186', 'SNOMEDCT_US_2022_09_01:1761006', 'SNOMEDCT_US_2022_09_01:31712002', 'UMLS_CUI:C0008312', 'UMLS_CUI:C0023892']",['DOID:5082']
6558,12241,beta thalassemia,"""A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin."" [url:http\://en.wikipedia.org/wiki/Beta_thalassemia, url:https\://ghr.nlm.nih.gov/condition/beta-thalassemia, url:https\://pubmed.ncbi.nlm.nih.gov/31030806/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1426/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10395635]","['DO_rare_slim', 'NCIthesaurus']","['GARD:871', 'ICD10CM:D56.1', 'ICD9CM:282.44', 'MESH:D017086', 'NCI:C34375', 'OMIM:613985', 'ORDO:848', 'SNOMEDCT_US_2022_09_01:65959000', 'UMLS_CUI:C0005283']",['DOID:10241']
6562,12259,hemophilia B,"""A blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait."" [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000539.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8732', 'ICD10CM:D67', 'ICD9CM:286.1', 'MESH:D002836', 'NCI:C26721', 'OMIM:306900', 'SNOMEDCT_US_2022_09_01:41788008', 'UMLS_CUI:C0008533']",['DOID:1247']
6565,12270,coloboma,"""An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc."" [url:http\://en.wikipedia.org/wiki/Coloboma, url:http\://ghr.nlm.nih.gov/condition/coloboma]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1433', 'ICD10CM:Q13.0', 'MESH:D003103', 'NCI:C98877', 'OMIM:120200', 'OMIM:120300', 'OMIM:216820', 'ORDO:194', 'ORDO:98945', 'SNOMEDCT_US_2022_09_01:93390002', 'UMLS_CUI:C0009363']",['DOID:5614']
6566,12271,aniridia,"""An iris disease that is characterized by a complete or partial absence of the colored part of the eye."" [url:https\://ghr.nlm.nih.gov/condition/aniridia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5816', 'ICD10CM:Q13.1', 'ICD9CM:743.45', 'MESH:D015783', 'NCI:C84563', 'OMIM:106210', 'SNOMEDCT_US_2022_09_01:69278003', 'UMLS_CUI:C0003076']",['DOID:240']
6568,12275,cutaneous diphtheria,"""A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin."" [url:http\://en.wikipedia.org/wiki/Diphtheria, url:http\://www.merck.com/mmpe/sec14/ch172/ch172c.html, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A1746]",['NCIthesaurus'],"['ICD10CM:A36.3', 'ICD9CM:032.85', 'NCI:C34544', 'SNOMEDCT_US_2022_09_01:18901009', 'UMLS_CUI:C0012555']",['DOID:4223']
6572,12287,Crimean-Congo hemorrhagic fever,"""A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Crimean-Congo hemorrhagic fever virus, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine."" [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/cchf.htm, url:http\://www.who.int/mediacentre/factsheets/fs208/en/]","['DO_infectious_disease_slim', 'NCIthesaurus', 'tick-borne_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A98.0', 'ICD9CM:065.0', 'MESH:D006479', 'NCI:C34682', 'SNOMEDCT_US_2022_09_01:43489008', 'UMLS_CUI:C0019099']",['DOID:934']
6573,1229,paranoid schizophrenia,"""A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening."" [url:http\://en.wikipedia.org/wiki/Paranoid_schizophrenia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000936.htm]",['NCIthesaurus'],"['ICD10CM:F20.0', 'ICD9CM:295.3', 'ICD9CM:295.32', 'MESH:D012563', 'NCI:C35006', 'SNOMEDCT_US_2022_09_01:154865007', 'SNOMEDCT_US_2022_09_01:191553009', 'UMLS_CUI:C0036349', 'UMLS_CUI:C0270398']",['DOID:5419']
6575,12297,Vogt-Koyanagi-Harada disease,"""An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis."" [url:http\://en.wikipedia.org/wiki/Vogt%E2%80%93Koyanagi%E2%80%93Harada_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7862', 'ICD10CM:H20.82', 'ICD9CM:364.24', 'MESH:D014607', 'NCI:C85218', 'SNOMEDCT_US_2022_09_01:44923005', 'UMLS_CUI:C0042170']",['DOID:417']
6579,12306,vitiligo,"""An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes."" [url:http\://en.wikipedia.org/wiki/Vitiligo]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0004208', 'GARD:10751', 'ICD10CM:L80', 'ICD9CM:709.01', 'MESH:D014820', 'NCI:C26915', 'OMIM:193200', 'SNOMEDCT_US_2022_09_01:156437000', 'UMLS_CUI:C0042900']",['DOID:417']
6581,12308,Dubin-Johnson syndrome,"""A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile."" [url:http\://en.wikipedia.org/wiki/Dubin-Johnson_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6289', 'ICD10CM:E80.6', 'MESH:D007566', 'NCI:C34741', 'OMIM:237500', 'SNOMEDCT_US_2022_09_01:44553005', 'UMLS_CUI:C0022350']",['DOID:2741']
6584,12318,granular corneal dystrophy,"""An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea."" [url:https\://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm]",['NCIthesaurus'],"['ICD10CM:H18.53', 'ICD9CM:371.53', 'MESH:D003317', 'NCI:C34651', 'SNOMEDCT_US_2022_09_01:45283008', 'UMLS_CUI:C0018179']",['DOID:0060441']
6597,12341,retroperitoneal sarcoma,"""A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space."" [url:http\://en.wikipedia.org/wiki/Retroperitoneal_space, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1665230/]",['NCIthesaurus'],"['NCI:C4832', 'SNOMEDCT_US_2022_09_01:307219002', 'UMLS_CUI:C0585129']",['DOID:5875']
6599,12347,osteogenesis imperfecta,"""An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue."" [url:http\://en.wikipedia.org/wiki/Osteogenesis_imperfecta, url:http\://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00051, url:http\://osteogenesisimperfecta.org/, url:http\://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001573.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1017', 'ICD10CM:Q78.0', 'ICD9CM:756.51', 'MESH:D010013', 'NCI:C26837', 'OMIM:PS166200', 'ORDO:666', 'SNOMEDCT_US_2022_09_01:254109004', 'UMLS_CUI:C0029434']",['DOID:2256']
6604,12357,viral labyrinthitis,"""A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur."" [url:http\://books.google.com/books?id=uCDyjzqAL3wC&pg=PA69&lpg#v=onepage&q=&f=false]",['DO_infectious_disease_slim'],"['ICD9CM:386.35', 'SNOMEDCT_US_2022_09_01:34243007', 'UMLS_CUI:C0155508']",['DOID:1468']
6605,12358,patulous eustachian tube,"""A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection."" [url:http\://books.google.com/books?id=UQ-rOpK6oScC&pg=PA53&lpg#v=onepage&q=&f=false]",['DO_rare_slim'],"['GARD:10812', 'ICD10CM:H69.0', 'ICD9CM:381.7', 'SNOMEDCT_US_2022_09_01:30280005', 'UMLS_CUI:C0155434']",['DOID:9739']
6608,12361,Graves' disease,"""An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland."" [url:http\://en.wikipedia.org/wiki/Graves_disease]",['NCIthesaurus'],"['EFO:0004237', 'ICD10CM:E05.0', 'MESH:D006111', 'NCI:C3071', 'SNOMEDCT_US_2022_09_01:154655004', 'UMLS_CUI:C0018213']",['DOID:0060005']
6612,12365,malaria,"""A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle."" [url:http\://en.wikipedia.org/wiki/Malaria, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malaria]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['EFO:0001068', 'GARD:6961', 'ICD10CM:B54', 'ICD9CM:084', 'MESH:D008288', 'NCI:C34797', 'SNOMEDCT_US_2022_09_01:154374002', 'UMLS_CUI:C0024530']",['DOID:2789']
6613,12369,prolapse of urethra,"""A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening."" [url:https\://en.wikipedia.org/wiki/Urethrocele]",['NCIthesaurus'],"['ICD10CM:N81.0', 'ICD9CM:618.03', 'SNOMEDCT_US_2022_09_01:12068006', 'UMLS_CUI:C0238502']",['DOID:1284']
6615,12375,bronchopneumonia,"""A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchopneumonia]",['NCIthesaurus'],"['ICD10CM:J18.0', 'ICD9CM:485', 'MESH:D001996', 'NCI:C26710', 'SNOMEDCT_US_2022_09_01:155551009', 'UMLS_CUI:C0006285']",['DOID:552']
6616,12376,juvenile spinal muscular atrophy,"""A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk."" [url:https\://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy]",['NCIthesaurus'],"['ICD9CM:335.11', 'MESH:D014897', 'NCI:C118847', 'OMIM:253400', 'SNOMEDCT_US_2022_09_01:54280009', 'UMLS_CUI:C0152109']",['DOID:0060160']
6617,12377,spinal muscular atrophy,"""A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy."" [url:http\://en.wikipedia.org/wiki/Spinal_muscular_atrophy, url:https\://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy, url:https\://www.ncbi.nlm.nih.gov/pubmed/26022173]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7674', 'ICD10CM:G12.9', 'ICD9CM:335.1', 'MESH:D009134', 'NCI:C85075', 'SNOMEDCT_US_2022_09_01:5262007', 'UMLS_CUI:C0026847']",['DOID:231']
6620,12385,shigellosis,"""A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces."" [url:http\://www.merck.com/mmpe/sec14/ch173/ch173q.html?qt=shigellosis&alt=sh]","['DO_infectious_disease_slim', 'DO_rare_slim']","['GARD:4818', 'ICD10CM:A03', 'ICD10CM:A03.0', 'ICD10CM:A03.1', 'ICD10CM:A03.2', 'ICD9CM:004', 'ICD9CM:004.0', 'ICD9CM:004.1', 'ICD9CM:004.2', 'KEGG:05131', 'MESH:D004405', 'NCI:C157978', 'SNOMEDCT_US_2022_09_01:111817006', 'SNOMEDCT_US_2022_09_01:34335000', 'SNOMEDCT_US_2022_09_01:55760004', 'SNOMEDCT_US_2022_09_01:66301008', 'UMLS_CUI:C0013371', 'UMLS_CUI:C0302358', 'UMLS_CUI:C0302359', 'UMLS_CUI:C0302360']",['DOID:0050338']
6621,12386,balantidiasis,"""A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14760781]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:809', 'ICD10CM:A07.0', 'ICD9CM:007.0', 'MESH:D001447', 'NCI:C84583', 'SNOMEDCT_US_2022_09_01:57725006', 'UMLS_CUI:C0004692']",['DOID:2789']
6622,12387,nephrogenic diabetes insipidus,"""A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH)."" [url:http\://en.wikipedia.org/wiki/Nephrogenic_diabetes_insipidus, url:http\://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus, url:https\://medlineplus.gov/ency/article/000511.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7178', 'ICD10CM:N25.1', 'ICD9CM:588.1', 'MESH:D018500', 'NCI:C84919', 'ORDO:223', 'SNOMEDCT_US_2022_09_01:123294004', 'UMLS_CUI:C0162283']",['DOID:9409']
6623,12388,neurohypophyseal diabetes insipidus,"""A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13."" [url:https\://pubmed.ncbi.nlm.nih.gov/15070970/]","['DO_rare_slim', 'NCIthesaurus']","['MESH:D020790', 'NCI:C84933', 'OMIM:125700', 'ORDO:30925', 'SNOMEDCT_US_2022_09_01:267393007', 'UMLS_CUI:C0687720']",['DOID:0081055']
6626,12399,pathological gambling,"""An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004711/]",['NCIthesaurus'],"['ICD10CM:F63.0', 'ICD9CM:312.31', 'MESH:D005715', 'NCI:C94335', 'OMIM:606349', 'SNOMEDCT_US_2022_09_01:18085000', 'UMLS_CUI:C0030662']",['DOID:10937']
6627,1240,leukemia,"""A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells."" [url:http\://en.wikipedia.org/wiki/Leukemia, url:http\://www.cancer.gov/dictionary?CdrID=45343]","['DO_cancer_slim', 'DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:C95.90', 'ICD9CM:208', 'ICDO:9800/3', 'MESH:D007938', 'NCI:C3161', 'SNOMEDCT_US_2022_09_01:255049003', 'UMLS_CUI:C0023418']",['DOID:2531']
6628,12400,kleptomania,"""An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen."" [url:https\://en.wikipedia.org/wiki/Kleptomania]",['NCIthesaurus'],"['ICD10CM:F63.2', 'ICD9CM:312.32', 'MESH:D007174', 'NCI:C94333', 'SNOMEDCT_US_2022_09_01:69361009', 'UMLS_CUI:C0022734']",['DOID:10937']
6629,12401,intermittent explosive disorder,"""An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness."" [url:https\://en.wikipedia.org/wiki/Intermittent_explosive_disorder]",['NCIthesaurus'],"['ICD10CM:F60.3', 'ICD10CM:F63.81', 'ICD9CM:301.3', 'ICD9CM:312.34', 'MESH:D007174', 'NCI:C94332', 'SNOMEDCT_US_2022_09_01:192096007', 'SNOMEDCT_US_2022_09_01:268757006', 'UMLS_CUI:C0021776', 'UMLS_CUI:C0152183']",['DOID:10937']
6630,12402,pyromania,"""An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive."" [url:https\://en.wikipedia.org/wiki/Pyromania]",['NCIthesaurus'],"['ICD10CM:F63.1', 'ICD9CM:312.33', 'MESH:D005391', 'NCI:C94334', 'SNOMEDCT_US_2022_09_01:600009', 'UMLS_CUI:C0016142']",['DOID:10937']
6631,12403,tinea pedis,"""A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=athlete%27s%20foot]",['DO_infectious_disease_slim'],"['ICD10CM:B35.3', 'ICD9CM:110.4', 'MESH:D014008', 'SNOMEDCT_US_2022_09_01:186993002', 'UMLS_CUI:C0040259']",['DOID:8913']
6635,1243,labia minora cancer,"""A vulva cancer that is located_in the labium minora."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/13103721, url:https\://www.ncbi.nlm.nih.gov/pubmed/24113413]",['NCIthesaurus'],"['ICD10CM:C51.1', 'ICD9CM:184.2', 'NCI:C7637', 'SNOMEDCT_US_2022_09_01:93851005', 'UMLS_CUI:C0496815']",['DOID:1245']
6637,12449,aplastic anemia,"""An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow."" [url:http\://en.wikipedia.org/wiki/Aplastic_anemia, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/aplastic/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5836', 'ICD10CM:D61.9', 'ICD9CM:284.9', 'MESH:D000741', 'NCI:C2870', 'OMIM:609135', 'SNOMEDCT_US_2022_09_01:154807001', 'UMLS_CUI:C0002874']",['DOID:2355']
6638,1245,vulva cancer,"""A female reproductive organ cancer that is located_in the vulva."" [url:https\://en.wikipedia.org/wiki/Vulvar_cancer]","['DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['GARD:9349', 'ICD10CM:C51', 'ICD9CM:184.4', 'MESH:D014846', 'NCI:C3443', 'NCI:C7502', 'SNOMEDCT_US_2022_09_01:126922007', 'SNOMEDCT_US_2022_09_01:94143002', 'UMLS_CUI:C0042995', 'UMLS_CUI:C0375071']",['DOID:120']
6639,12450,pancytopenia,"""An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets."" [url:https\://en.wikipedia.org/wiki/Pancytopenia]",['NCIthesaurus'],"['ICD10CM:D61.81', 'ICD9CM:284.1', 'MESH:D010198', 'NCI:C34889', 'SNOMEDCT_US_2022_09_01:127034005', 'UMLS_CUI:C0030312']",['DOID:2355']
6643,1247,blood coagulation disease,"""A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding."" [url:https\://www.cedars-sinai.edu/Patients/Health-Conditions/Coagulation-System-Disorders.aspx]","['DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:D68.9', 'ICD9CM:286', 'MESH:D001778', 'NCI:C2902', 'SNOMEDCT_US_2022_09_01:64779008', 'UMLS_CUI:C0005779']",['DOID:74']
6644,12474,capillariasis,"""A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species."" [url:https\://en.wikipedia.org/wiki/Capillariasis]",['DO_infectious_disease_slim'],"['ICD10CM:B81.1', 'ICD9CM:127.5', 'MESH:D017189', 'SNOMEDCT_US_2022_09_01:52979002', 'UMLS_CUI:C0006897']",['DOID:883']
6648,125,vagina leiomyoma,"""A vaginal benign neoplasm that is a benign tumor of smooth muscle cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25672089]",['NCIthesaurus'],"['NCI:C6373', 'UMLS_CUI:C1336939']",['DOID:0060114']
6649,12506,Bell's palsy,"""A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve)."" [url:http\://en.wikipedia.org/wiki/Bell%27s_palsy]",['DO_rare_slim'],"['GARD:5906', 'ICD10CM:G51.0', 'ICD9CM:351.0', 'MESH:D020330', 'SNOMEDCT_US_2022_09_01:193093009', 'UMLS_CUI:C0376175']",['DOID:13934']
6650,1251,tuberculous epididymitis,"""An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling."" [url:http\://www.nature.com/aja/journal/v7/n3/abs/aja200560a.html]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD9CM:016.4', 'SNOMEDCT_US_2022_09_01:83652003', 'UMLS_CUI:C0152814']",['DOID:2149']
6653,1252,trichuriasis,"""A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation."" [url:http\://en.wikipedia.org/wiki/Trichuriasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichuriasis.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:10720', 'MESH:D014257', 'NCI:C128399', 'SNOMEDCT_US_2022_09_01:60570001', 'UMLS_CUI:C0040954']",['DOID:883']
6654,12522,bagassosis,"""An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes."" [url:http\://www.merriam-webster.com/medical/bagassosis]",['NCIthesaurus'],"['ICD10CM:J67.1', 'ICD9CM:495.1', 'MESH:D011009', 'NCI:C34409', 'SNOMEDCT_US_2022_09_01:67242002', 'UMLS_CUI:C0004681']",['DOID:841']
6660,12531,von Willebrand's disease,"""A blood coagulation disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion."" [url:http\://en.wikipedia.org/wiki/Von_Willebrand_disease, url:http\://ghr.nlm.nih.gov/condition/von-willebrand-disease]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7867', 'ICD10CM:D68.0', 'ICD9CM:286.4', 'MESH:D014842', 'NCI:C68677', 'SNOMEDCT_US_2022_09_01:11093006', 'UMLS_CUI:C0042974']",['DOID:1247']
6662,1254,trichostrongylosis,"""A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia."" [url:http\://www.dpd.cdc.gov/DPDx/HTML/Trichostrongylosis.htm]",['DO_infectious_disease_slim'],"['ICD10CM:B81.2', 'ICD9CM:127.6', 'MESH:D014253', 'SNOMEDCT_US_2022_09_01:33710003', 'UMLS_CUI:C0040948']",['DOID:1255']
6664,12549,hepatitis A,"""A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice."" [url:http\://www.cdc.gov/hepatitis/HAV/index.htm, url:http\://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf]","['DO_infectious_disease_slim', 'NCIthesaurus']","['MESH:D006506', 'NCI:C3096', 'SNOMEDCT_US_2022_09_01:40468003', 'UMLS_CUI:C0019159']",['DOID:934']
6665,1255,trichostrongyloidiasis,"""A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea."" [url:http\://en.wikipedia.org/wiki/Strongylida]",['DO_infectious_disease_slim'],"['MESH:D014252', 'UMLS_CUI:C0040947']",['DOID:883']
6667,12554,hemolytic-uremic syndrome,"""A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs."" [url:https\://en.wikipedia.org/wiki/Hemolytic-uremic_syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1367/, url:https\://www.ncbi.nlm.nih.gov/pubmed/15728781]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6588', 'ICD10CM:D59.3', 'ICD9CM:283.11', 'MESH:D006463', 'NCI:C75545', 'ORDO:2134', 'SNOMEDCT_US_2022_09_01:123308008', 'UMLS_CUI:C0019061']",['DOID:557']
6668,12556,acute kidney tubular necrosis,"""An acute kidney failure that is characterized by necrosis of epithelial tubule cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1904420/]",['NCIthesaurus'],"['ICD10CM:N17.0', 'MESH:D007683', 'NCI:C34749', 'SNOMEDCT_US_2022_09_01:23697004', 'UMLS_CUI:C0022672']",['DOID:3021']
6679,12580,Cri-Du-Chat syndrome,"""A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat."" [url:https\://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6213', 'ICD10CM:Q93.4', 'ICD9CM:758.31', 'MESH:D003410', 'NCI:C34518', 'OMIM:123450', 'SNOMEDCT_US_2022_09_01:70173007', 'UMLS_CUI:C0010314']",['DOID:225']
6682,12594,Potter's syndrome,"""A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus."" [url:http\://en.wikipedia.org/wiki/Potter_Syndrome, url:https\://en.wikipedia.org/wiki/Potter_sequence, url:https\://rarediseases.info.nih.gov/diseases/4462/potter-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4462', 'ICD10CM:Q60.6', 'NCI:C40435', 'SNOMEDCT_US_2022_09_01:41962002', 'UMLS_CUI:C0178426']",['DOID:14766']
6684,12603,acute leukemia,"""A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream."" [url:http\://en.wikipedia.org/wiki/Acute_leukemia, url:http\://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf, url:http\://www.merck.com/mmpe/sec11/ch142/ch142b.html]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:C95.00', 'ICD9CM:208.0', 'ICDO:9801/3', 'NCI:C9300', 'OMIM:308960', 'SNOMEDCT_US_2022_09_01:24072005', 'UMLS_CUI:C0085669', 'UMLS_CUI:C1378511']",['DOID:1037']
6686,12638,hypertrophic pyloric stenosis,"""A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting."" [url:http\://en.wikipedia.org/wiki/Pyloric_stenosis]",['NCIthesaurus'],"['ICD10CM:Q40.0', 'ICD9CM:750.5', 'MESH:D046248', 'NCI:C98952', 'OMIM:179010', 'OMIM:300711', 'OMIM:610260', 'OMIM:612017', 'OMIM:612525', 'SNOMEDCT_US_2022_09_01:48644003', 'UMLS_CUI:C0700639']",['DOID:12639']
6692,12662,paracoccidioidomycosis,"""A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis."" [url:http\://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7323', 'ICD10CM:B41', 'ICD9CM:116.1', 'MESH:D010229', 'NCI:C34891', 'SNOMEDCT_US_2022_09_01:59925007', 'UMLS_CUI:C0030409']",['DOID:0050292']
6693,12663,blastomycosis,"""A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening."" [url:http\://en.wikipedia.org/wiki/Blastomycosis]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:5931', 'ICD10CM:B40', 'ICD9CM:116.0', 'MESH:D001759', 'NCI:C34428', 'SNOMEDCT_US_2022_09_01:266217003', 'UMLS_CUI:C0005716']",['DOID:0050292']
6698,12680,pseudobulbar palsy,"""A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts."" [url:https\://en.wikipedia.org/wiki/Corticobulbar_tract, url:https\://en.wikipedia.org/wiki/Pseudobulbar_palsy]",['NCIthesaurus'],"['ICD9CM:335.23', 'MESH:D020828', 'NCI:C129934', 'SNOMEDCT_US_2022_09_01:7379000', 'UMLS_CUI:C0033790']",['DOID:936']
6699,12683,vestibular neuronitis,"""A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent."" [url:http\://en.wikipedia.org/wiki/Vestibular_neuritis, url:https\://www.ncbi.nlm.nih.gov/pubmed/16448876]",['DO_infectious_disease_slim'],"['ICD10CM:H81.2', 'ICD9CM:386.12', 'MESH:D020338', 'SNOMEDCT_US_2022_09_01:232293008', 'UMLS_CUI:C0751908']",['DOID:12657']
6700,12685,mixed receptive-expressive language disorder,"""A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe."" [url:http\://en.wikipedia.org/wiki/Mixed_receptive-expressive_language_disorder]",['NCIthesaurus'],"['ICD10CM:F80.2', 'ICD9CM:315.32', 'NCI:C92563', 'SNOMEDCT_US_2022_09_01:25766007', 'UMLS_CUI:C0236827']",['DOID:2033']
6702,12697,locked-in syndrome,"""A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes."" [url:http\://rarediseases.org/rare-diseases/locked-in-syndrome/]",['DO_rare_slim'],"['GARD:6919', 'ICD10CM:G83.5', 'ICD9CM:344.81', 'MESH:D000080422', 'SNOMEDCT_US_2022_09_01:38023001', 'UMLS_CUI:C0023944']",['DOID:863']
6703,12698,gynecomastia,"""A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels."" [url:https\://my.clevelandclinic.org/health/diseases/16227-enlarged-male-breast-tissue-gynecomastia, url:https\://www.mayoclinic.org/diseases-conditions/gynecomastia/symptoms-causes/syc-20351793]",['NCIthesaurus'],"['ICD10CM:N62', 'MESH:D006177', 'NCI:C3073', 'SNOMEDCT_US_2022_09_01:155963008', 'UMLS_CUI:C0018418']",['DOID:1923']
6704,127,leiomyoma,"""A cell type benign neoplasm that is a benign tumor of smooth muscle cells."" [url:http\://en.wikipedia.org/wiki/Cancer, url:http\://en.wikipedia.org/wiki/Leiomyoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8890/0', 'MESH:D007889', 'NCI:C3157', 'SNOMEDCT_US_2022_09_01:1162890002', 'UMLS_CUI:C0023267']",['DOID:0060084']
6705,1270,hereditary hemorrhagic telangiectasia,"""A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins."" [url:http\://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia, url:http\://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1351/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6626', 'ICD10CM:I78.0', 'ICD9CM:448.0', 'MESH:D013683', 'NCI:C35064', 'OMIM:187300', 'OMIM:600376', 'OMIM:601101', 'OMIM:615506', 'ORDO:774', 'SNOMEDCT_US_2022_09_01:266324004', 'UMLS_CUI:C0039445']",['DOID:178']
6706,12700,hyperprolactinemia,"""An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood."" [url:http\://en.wikipedia.org/wiki/Hyperprolactinemia]",['NCIthesaurus'],"['ICD10CM:E22.1', 'MESH:D002640', 'MESH:D006966', 'SNOMEDCT_US_2022_09_01:190468001', 'SNOMEDCT_US_2022_09_01:85039006', 'UMLS_CUI:C0008043', 'UMLS_CUI:C0020514']",['DOID:0060158']
6707,12704,ataxia telangiectasia,"""An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22."" [url:https\://ghr.nlm.nih.gov/condition/ataxia-telangiectasia]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:5862', 'MESH:D001260', 'NCI:C2887', 'OMIM:208900', 'SNOMEDCT_US_2022_09_01:68504005', 'UMLS_CUI:C0004135']",['DOID:0050950']
6711,12711,black piedra,"""A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair."" [url:http\://en.wikipedia.org/wiki/Black_piedra, url:http\://mycology.adelaide.edu.au/Mycoses/Superficial/Black_piedra/]",['DO_infectious_disease_slim'],"['ICD10CM:B36.3', 'ICD9CM:111.3', 'MESH:D010854', 'SNOMEDCT_US_2022_09_01:266218008', 'SNOMEDCT_US_2022_09_01:33666009', 'UMLS_CUI:C0031898', 'UMLS_CUI:C0153249']",['DOID:0050133']
6712,12712,nephronophthisis,"""A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy)."" [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:206', 'ICD10CM:Q61.5', 'NCI:C123200', 'OMIM:PS256100', 'ORDO:655', 'SNOMEDCT_US_2022_09_01:204958008', 'UMLS_CUI:C0687120']",['DOID:557']
6713,12714,Ellis-Van Creveld syndrome,"""A syndrome characterized by short limbs, short ribs, postaxial polydactyly,  dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either EVC or EVC2 on chromosome 4p16.2."" [url:https\://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/10700184]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1301', 'ICD10CM:Q77.6', 'ICD9CM:756.55', 'MESH:D004613', 'NCI:C84684', 'OMIM:225500', 'SNOMEDCT_US_2022_09_01:62501005', 'UMLS_CUI:C0013903']",['DOID:225']
6718,12721,multiple epiphyseal dysplasia,"""An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain."" [url:http\://en.wikipedia.org/wiki/Multiple_epiphyseal_dysplasia, url:http\://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia]",['DO_rare_slim'],"['GARD:10756', 'ICD9CM:756.56', 'MESH:D010009', 'ORDO:251', 'SNOMEDCT_US_2022_09_01:59708000', 'UMLS_CUI:C0026760']",['DOID:2256']
6719,1273,respiratory syncytial virus infectious disease,"""A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress."" [url:http\://www.merck.com/mmhe/sec23/ch273/ch273i.html?qt=respiratory%20syncytial%20virus&alt=sh#sec23-ch273-ch273i-982g]","['DO_infectious_disease_slim', 'NCIthesaurus']","['MESH:D018357', 'NCI:C3354', 'SNOMEDCT_US_2022_09_01:186750007', 'UMLS_CUI:C0035235']",['DOID:934']
6724,12750,cyclosporiasis,"""A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue."" [url:https\://www.cdc.gov/parasites/cyclosporiasis/index.html]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9528', 'ICD10CM:A07.4', 'ICD9CM:007.5', 'MESH:D021866', 'SNOMEDCT_US_2022_09_01:240372001', 'UMLS_CUI:C0343398']",['DOID:2113']
6730,12783,migraine without aura,"""A migraine that is characterized by migraine headaches that are not accompanied by an aura."" [url:http\://en.wikipedia.org/wiki/Migraine]",['NCIthesaurus'],"['ICD10CM:G43.0', 'ICD9CM:346.1', 'MESH:D020326', 'NCI:C117004', 'OMIM:607501', 'SNOMEDCT_US_2022_09_01:56097005', 'UMLS_CUI:C0338480']",['DOID:6364']
6734,12798,mucopolysaccharidosis,"""A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine."" [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Mucopolysaccharidosis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7065', 'ICD10CM:E76.3', 'ICD9CM:277.5', 'MESH:D009083', 'NCI:C61259', 'OMIM:PS607014', 'ORDO:79213', 'SNOMEDCT_US_2022_09_01:267452003', 'UMLS_CUI:C0026703']",['DOID:3211']
6735,12799,mucopolysaccharidosis II,"""A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase."" [url:http\://en.wikipedia.org/wiki/Hunter_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6675', 'ICD10CM:E76.1', 'MESH:D016532', 'NCI:C61260', 'OMIM:309900', 'SNOMEDCT_US_2022_09_01:190936000', 'UMLS_CUI:C0026705']",['DOID:12798']
6736,12800,mucopolysaccharidosis VI,"""A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase."" [url:http\://en.wikipedia.org/wiki/Maroteaux-Lamy_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7095', 'MESH:D009087', 'NCI:C61264', 'OMIM:253200', 'SNOMEDCT_US_2022_09_01:69463008', 'UMLS_CUI:C0026709']",['DOID:12798']
6737,12801,mucopolysaccharidosis III,"""A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain."" [url:http\://en.wikipedia.org/wiki/Sanfilippo_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['MESH:D009084', 'NCI:C61262', 'OMIM:252940', 'ORDO:581', 'SNOMEDCT_US_2022_09_01:190936000', 'UMLS_CUI:C0026706']",['DOID:12798']
6738,12802,mucopolysaccharidosis I,"""A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase."" [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10335', 'ICD10CM:E76.0', 'MESH:D008059', 'NCI:C85053', 'SNOMEDCT_US_2022_09_01:267453008', 'UMLS_CUI:C0023786']",['DOID:12798']
6739,12803,Sly syndrome,"""A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans."" [url:http\://en.wikipedia.org/wiki/Mucopolysaccharidosis_VII, url:http\://omim.org/entry/253220]",['NCIthesaurus'],"['ICD10CM:E76.29', 'MESH:D016538', 'NCI:C84903', 'OMIM:253220', 'SNOMEDCT_US_2022_09_01:43916004', 'UMLS_CUI:C0085132']",['DOID:12798']
6740,12804,mucopolysaccharidosis IV,"""A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain."" [url:http\://en.wikipedia.org/wiki/Morquio_syndrome]",['NCIthesaurus'],"['ICD10CM:E76.219', 'MESH:D009085', 'NCI:C61263', 'SNOMEDCT_US_2022_09_01:378007', 'UMLS_CUI:C0026707']",['DOID:12798']
6747,12841,ancylostomiasis,"""A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition."" [url:http\://en.wikipedia.org/wiki/Ancylostomiasis]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9742', 'ICD10CM:B76.0', 'MESH:D000724', 'NCI:C35805', 'SNOMEDCT_US_2022_09_01:85807000', 'UMLS_CUI:C0002831']",['DOID:883']
6748,12842,Guillain-Barre syndrome,"""An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system."" [url:http\://www.ninds.nih.gov/disorders/gbs/gbs.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6554', 'ICD10CM:G61.0', 'MESH:D020275', 'NCI:C116345', 'OMIM:139393', 'SNOMEDCT_US_2022_09_01:155082001', 'UMLS_CUI:C0018378']",['DOID:0060033']
6749,12849,autistic disorder,"""An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years."" [url:http\://en.wikipedia.org/wiki/Autism, url:http\://www.neurodevnet.ca]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0003758', 'ICD10CM:F84.0', 'ICD9CM:299.0', 'MESH:D001321', 'NCI:C97161', 'OMIM:209850', 'ORDO:106', 'SNOMEDCT_US_2022_09_01:38763009', 'UMLS_CUI:C0004352']",['DOID:0060041']
6752,12858,Huntington's disease,"""A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities."" [url:http\://en.wikipedia.org/wiki/Huntington_disease, url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=118&Disease_Disease_Search_diseaseGroup=huntington&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Huntington-disease&title=Huntington-disease&search=Disease_Search_Simple]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6677', 'ICD10CM:G10', 'ICD9CM:333.4', 'KEGG:05016', 'MESH:D006816', 'NCI:C82342', 'OMIM:143100', 'SNOMEDCT_US_2022_09_01:58756001', 'UMLS_CUI:C0020179']",['DOID:1289']
6753,12859,choreatic disease,"""A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next."" [url:http\://en.wikipedia.org/wiki/Chorea, url:http\://www.ncbi.nlm.nih.gov/mesh?term=Choreatic%20Disorders]",['DO_rare_slim'],"['ICD10CM:G25.5', 'OMIM:118700', 'OMIM:215450', 'ORDO:1429']",['DOID:480']
6754,1287,cardiovascular system disease,"""A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis."" [url:http\://en.wikipedia.org/wiki/Circulatory_system]","['DO_AGR_slim', 'DO_CFDE_slim', 'DO_GXD_slim', 'DO_MGI_slim', 'DO_RAD_slim', 'NCIthesaurus']","['ICD9CM:429.2', 'MESH:D002318', 'NCI:C2931', 'SNOMEDCT_US_2022_09_01:266275004', 'UMLS_CUI:C0007222']",['DOID:7']
6755,12883,hypochondriasis,"""A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness."" [url:http\://en.wikipedia.org/wiki/Hypochondriasis]",['NCIthesaurus'],"['ICD10CM:F45.21', 'ICD9CM:300.7', 'MESH:D006998', 'NCI:C9493', 'SNOMEDCT_US_2022_09_01:18193002', 'UMLS_CUI:C0020604']",['DOID:4737']
6756,12889,Miller Fisher syndrome,"""A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia."" [url:http\://en.wikipedia.org/wiki/Miller_Fisher_syndrome#Classification]","['DO_rare_slim', 'NCIthesaurus']","['GARD:3668', 'ICD10CM:G61.0', 'MESH:D019846', 'NCI:C116958', 'SNOMEDCT_US_2022_09_01:1767005', 'UMLS_CUI:C0393799']",['DOID:12842']
6757,1289,neurodegenerative disease,"""A central nervous system disease that results in the progressive deterioration of function or structure of neurons."" [url:http\://en.wikipedia.org/wiki/Degenerative_disease, url:http\://en.wikipedia.org/wiki/Neurodegeneration]","['DO_FlyBase_slim', 'NCIthesaurus']","['ICD10CM:G31.9', 'MESH:D019636', 'NCI:C27090', 'SNOMEDCT_US_2022_09_01:362975008', 'UMLS_CUI:C0524851', 'UMLS_CUI:C1285162']",['DOID:331']
6758,12894,Sjogren's syndrome,"""An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva."" [url:http\://en.wikipedia.org/wiki/Sj%C3%B6gren%27s_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10252', 'ICD10CM:M35.0', 'ICD9CM:710.2', 'MESH:D012859', 'NCI:C26883', 'NCI:C70647', 'OMIM:270150', 'SNOMEDCT_US_2022_09_01:267875002', 'SNOMEDCT_US_2022_09_01:83901003', 'UMLS_CUI:C0086981', 'UMLS_CUI:C1527336']",['DOID:417']
6762,12900,Mikulicz disease,"""An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection."" [url:https\://rarediseases.org/rare-diseases/mikulicz-syndrome/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7043', 'ICD10CM:K11.8', 'MESH:D008882', 'NCI:C34819', 'SNOMEDCT_US_2022_09_01:7826003', 'UMLS_CUI:C0026103']",['DOID:417']
6767,12919,Plasmodium ovale malaria,"""A malaria characaterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ovale%20malaria]","['DO_infectious_disease_slim', 'zoonotic_infectious_disease']","['ICD10CM:B53.0', 'ICD9CM:084.3', 'SNOMEDCT_US_2022_09_01:19341001', 'UMLS_CUI:C0152072']",['DOID:12365']
6768,12926,hypodermyiasis,"""A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful."" [url:http\://en.wikipedia.org/wiki/Dermatobia_hominis, url:http\://en.wikipedia.org/wiki/Hypodermyiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm]","['DO_infectious_disease_slim', 'DO_rare_slim']","['GARD:2883', 'MESH:D007000', 'UMLS_CUI:C0020607']",['DOID:11080']
6769,12927,screw worm infectious disease,"""A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage."" [url:http\://en.wikipedia.org/wiki/Chrysomya_bezziana, url:http\://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm]",['DO_infectious_disease_slim'],"['MESH:D012610', 'UMLS_CUI:C0036465']",['DOID:11080']
6770,12929,endocardial fibroelastosis,"""An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers."" [url:http\://en.wikipedia.org/wiki/Endocardial_fibroelastosis, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/219/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2121', 'GARD:6336', 'ICD10CM:I42.4', 'ICD9CM:425.3', 'MESH:D004695', 'NCI:C98922', 'OMIM:226000', 'SNOMEDCT_US_2022_09_01:65457005', 'UMLS_CUI:C0014117']",['DOID:0050825']
6771,1293,labia minora carcinoma,"""A vulva carcinoma that is located_in the labia minora."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/13733610]",['NCIthesaurus'],"['NCI:C9364', 'UMLS_CUI:C1334357']",['DOID:1294']
6772,12930,dilated cardiomyopathy,"""An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently."" [url:http\://en.wikipedia.org/wiki/Dilated_cardiomyopathy]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['EFO:0000407', 'GARD:221', 'ICD10CM:I42.0', 'KEGG:05414', 'MESH:D002311', 'NCI:C84673', 'OMIM:PS115200', 'ORDO:217604', 'SNOMEDCT_US_2022_09_01:74368002', 'UMLS_CUI:C0007193']",['DOID:0060036']
6776,1294,vulva carcinoma,"""A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:http\://www.cancer.gov/cancertopics/types/vulvar]",['NCIthesaurus'],"['NCI:C4866', 'UMLS_CUI:C0677055']",['DOID:1245']
6779,12960,acrocephalosyndactylia,"""A synostosis that results_in craniosynostosis and syndactyly."" [url:http\://en.wikipedia.org/wiki/Acrocephalosyndactylia]",['NCIthesaurus'],"['ICD9CM:755.55', 'MESH:D000168', 'NCI:C34348', 'OMIM:101200', 'SNOMEDCT_US_2022_09_01:63661009', 'UMLS_CUI:C1510455']",['DOID:11971']
6780,12961,Poland syndrome,"""A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand."" [url:https\://pubmed.ncbi.nlm.nih.gov/25831684]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7412', 'ICD10CM:Q79.8', 'MESH:D011045', 'NCI:C85017', 'OMIM:173800', 'SNOMEDCT_US_2022_09_01:205524002', 'UMLS_CUI:C0032357']",['DOID:0080015']
6782,12969,central nervous system leukemia,"""A hematologic cancer located_in the central nervous system."" [url:http\://www.springerlink.com/content/gl61tx644217n938/]",['NCIthesaurus'],"['NCI:C5440', 'UMLS_CUI:C1332884']",['DOID:3620']
6783,12971,hereditary spherocytosis,"""A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape."" [url:http\://en.wikipedia.org/wiki/Hereditary_spherocytosis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6639', 'ICD10CM:D58.0', 'ICD9CM:282.0', 'MESH:D013103', 'NCI:C97074', 'ORDO:822', 'SNOMEDCT_US_2022_09_01:154795009', 'UMLS_CUI:C0037889']",['DOID:589']
6785,12978,Plasmodium vivax malaria,"""A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vivax+malaria]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B51', 'ICD9CM:084.1', 'MESH:D016780', 'NCI:C34800', 'SNOMEDCT_US_2022_09_01:27052006', 'UMLS_CUI:C0024537']",['DOID:12365']
6788,12987,agranulocytosis,"""A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood."" [url:https\://en.wikipedia.org/wiki/Agranulocytosis]",['NCIthesaurus'],"['ICD10CM:D70', 'MESH:D000380', 'SNOMEDCT_US_2022_09_01:154830007', 'UMLS_CUI:C0001824']",['DOID:615']
6789,12995,conduct disorder,"""A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated."" [url:http\://en.wikipedia.org/wiki/Conduct_disorder, url:http\://www.nmha.org/go/conduct-disorder]",['NCIthesaurus'],"['EFO:0004216', 'ICD10CM:F91', 'ICD9CM:312.9', 'MESH:D019955', 'NCI:C89329', 'SNOMEDCT_US_2022_09_01:430909002', 'UMLS_CUI:C0149654']",['DOID:0060038']
6798,13026,lobomycosis,"""A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions."" [url:http\://www.cdc.gov/EID/content/15/8/1301.htm, url:http\://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Lobomycosis/index.html]",['DO_infectious_disease_slim'],"['ICD10CM:B48.0', 'ICD9CM:116.2', 'MESH:D060368', 'SNOMEDCT_US_2022_09_01:47306003', 'UMLS_CUI:C0152066']",['DOID:1563']
6799,13027,transient global amnesia,"""An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories."" [url:http\://en.wikipedia.org/wiki/Transient_global_amnesia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8172', 'ICD10CM:G45.4', 'ICD9CM:437.7', 'MESH:D020236', 'NCI:C85198', 'SNOMEDCT_US_2022_09_01:366963000', 'UMLS_CUI:C0338591']",['DOID:10914']
6802,13034,relapsing fever,"""A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse."" [url:http\://www.cdc.gov/ncidod/dvbid/RelapsingFever/index.html]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease']","['ICD10CM:A68', 'ICD9CM:087', 'MESH:D012061', 'SNOMEDCT_US_2022_09_01:186820006', 'UMLS_CUI:C0035021']",['DOID:0050338']
6803,13035,louse-borne relapsing fever,"""A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30869050]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus']","['ICD10CM:A68.0', 'ICD9CM:087.0', 'MESH:D012061', 'NCI:C128426', 'SNOMEDCT_US_2022_09_01:14683004', 'UMLS_CUI:C0152061']",['DOID:13034']
6804,13036,tick-borne relapsing fever,"""A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy."" [url:http\://en.wikipedia.org/wiki/Relapsing_fever]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'tick-borne_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A68.1', 'ICD9CM:087.1', 'NCI:C34976', 'SNOMEDCT_US_2022_09_01:10301003', 'UMLS_CUI:C0035022']",['DOID:13034']
6812,1307,dementia,"""A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior."" [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000739.htm]",['DO_RAD_slim'],"['ICD9CM:290.8', 'UMLS_CUI:C0154319']",['DOID:1561']
6814,13074,tinea unguium,"""A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved."" [url:http\://en.wikipedia.org/wiki/Nail_disease, url:http\://en.wikipedia.org/wiki/Onychomycosis]",['DO_infectious_disease_slim'],"['ICD9CM:681.9', 'UMLS_CUI:C0007644']",['DOID:8913']
6815,13078,eumycotic mycetoma,"""A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules."" [url:http\://en.wikipedia.org/wiki/Maduromycosis, url:http\://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Mycetoma/index.html]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B47', 'MESH:D008271', 'NCI:C85505', 'SNOMEDCT_US_2022_09_01:410039003', 'UMLS_CUI:C0024449']",['DOID:1563']
6818,13087,Lown-Ganong-Levine syndrome,"""A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles."" [url:http\://en.wikipedia.org/wiki/Lown-Ganong-Levine_syndrome]",['DO_rare_slim'],"['ICD10CM:I45.6', 'ICD9CM:426.81', 'MESH:D008151', 'OMIM:108950', 'ORDO:844', 'SNOMEDCT_US_2022_09_01:55475008', 'UMLS_CUI:C0024054']",['DOID:225']
6823,13096,Sneddon syndrome,"""An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11."" [url:https\://pubmed.ncbi.nlm.nih.gov/25075847/]",['DO_rare_slim'],"['GARD:7664', 'MESH:D018860', 'OMIM:182410', 'SNOMEDCT_US_2022_09_01:716745004', 'UMLS_CUI:C0282492']",['DOID:0050828']
6825,13098,central retinal artery occlusion,"""A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery."" [url:http\://en.wikipedia.org/wiki/Central_retinal_artery_occlusion]",['NCIthesaurus'],"['ICD10CM:H34.1', 'ICD9CM:362.31', 'MESH:D015356', 'NCI:C34456', 'SNOMEDCT_US_2022_09_01:38742007', 'UMLS_CUI:C0007688']",['DOID:8483']
6826,13099,Moyamoya disease,"""A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots."" [url:http\://en.wikipedia.org/wiki/Moyamoya_disease, url:http\://rarediseases.info.nih.gov/gard/7064/moyamoya-disease/resources/1]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7064', 'ICD10CM:I67.5', 'ICD9CM:437.5', 'MESH:D009072', 'NCI:C84895', 'OMIM:252350', 'OMIM:300845', 'OMIM:607151', 'OMIM:608796', 'OMIM:614042', 'OMIM:615750', 'ORDO:2573', 'ORDO:280679', 'ORDO:401945', 'SNOMEDCT_US_2022_09_01:69116000', 'UMLS_CUI:C0026654']",['DOID:3527']
6828,13109,bladder leiomyoma,"""A bladder benign neoplasm that derives_from smooth muscle cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532898/]",['NCIthesaurus'],"['NCI:C6178', 'UMLS_CUI:C1332560']",['DOID:0050623']
6832,13117,paronychia,"""A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate."" [url:http\://en.wikipedia.org/wiki/Paronychia]",['NCIthesaurus'],"['ICD10CM:L03.0', 'MESH:D010304', 'NCI:C79702', 'SNOMEDCT_US_2022_09_01:267830000', 'UMLS_CUI:C0030578']",['DOID:4123']
6838,13133,HELLP syndrome,"""A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24400024, url:https\://www.ncbi.nlm.nih.gov/pubmed/25879992]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8528', 'ICD10CM:O14.2', 'MESH:D017359', 'NCI:C84750', 'SNOMEDCT_US_2022_09_01:95605009', 'UMLS_CUI:C0162739']",['DOID:13129']
6841,13137,Werdnig-Hoffmann disease,"""A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/?term=10700541]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7883', 'ICD10CM:G12.0', 'ICD9CM:335.0', 'MESH:D014897', 'NCI:C98670', 'OMIM:253300', 'SNOMEDCT_US_2022_09_01:64383006', 'UMLS_CUI:C0043116']",['DOID:0060160']
6845,13141,uveitis,"""An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid."" [url:https\://www.mayoclinic.org/diseases-conditions/uveitis/symptoms-causes/syc-20378734]",['NCIthesaurus'],"['ICD10CM:H20.9', 'MESH:D014605', 'NCI:C26909', 'SNOMEDCT_US_2022_09_01:267719008', 'UMLS_CUI:C0042164']",['DOID:3480']
6848,13146,esophageal candidiasis,"""A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain."" [url:http\://en.wikipedia.org/wiki/Esophageal_candidiasis]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B37.81', 'ICD9CM:112.84', 'NCI:C27027', 'SNOMEDCT_US_2022_09_01:20639004', 'UMLS_CUI:C0239295']",['DOID:1508']
6850,13148,acute cystitis,"""A cystitis characterized by a sudden onset or severe symptoms."" [url:http\://en.wikipedia.org/wiki/Urinary_tract_infection]",['NCIthesaurus'],"['ICD10CM:N30.0', 'ICD9CM:595.0', 'NCI:C26934', 'SNOMEDCT_US_2022_09_01:197833009', 'UMLS_CUI:C0149523']",['DOID:1679']
6851,13159,scrotum squamous cell carcinoma,"""A squamous cell carcinoma that is located_in the scrotum."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26113906]",['NCIthesaurus'],"['NCI:C4643', 'SNOMEDCT_US_2022_09_01:276860003', 'UMLS_CUI:C0349551']",['DOID:3445']
6853,13166,allergic bronchopulmonary aspergillosis,"""An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever."" [url:http\://www.merck.com/mmhe/sec04/ch051/ch051d.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000070.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:602', 'ICD10CM:B44.81', 'ICD9CM:518.6', 'MESH:D001229', 'NCI:C84547', 'OMIM:103920', 'SNOMEDCT_US_2022_09_01:37981002', 'UMLS_CUI:C0004031']",['DOID:13564']
6859,13189,gout,"""An arthritis that has_material_basis_in uric acid crystal deposits located_in joint."" [url:http\://en.wikipedia.org/wiki/Gout, url:http\://www.mayoclinic.com/health/gout/DS00090, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000422.htm]",['NCIthesaurus'],"['EFO:0004274', 'ICD10CM:M10', 'ICD9CM:274', 'ICD9CM:274.0', 'MESH:D006073', 'MESH:D015210', 'NCI:C34650', 'SNOMEDCT_US_2022_09_01:201661008', 'SNOMEDCT_US_2022_09_01:90560007', 'UMLS_CUI:C0003868', 'UMLS_CUI:C0018099']",['DOID:848']
6860,1319,brain cancer,"""A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain."" [url:http\://www.cancer.gov/dictionary?CdrID=387264]","['DO_cancer_slim', 'DO_CFDE_slim', 'DO_FlyBase_slim', 'DO_RAD_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C71', 'ICD9CM:191', 'ICD9CM:239.6', 'MESH:D001932', 'NCI:C170814', 'NCI:C2907', 'NCI:C3568', 'NCI:C5115', 'NCI:C7710', 'SNOMEDCT_US_2022_09_01:126952004', 'SNOMEDCT_US_2022_09_01:428061005', 'SNOMEDCT_US_2022_09_01:93727008', 'UMLS_CUI:C0006118', 'UMLS_CUI:C0153633', 'UMLS_CUI:C0220624', 'UMLS_CUI:C0750974', 'UMLS_CUI:C0750979', 'UMLS_CUI:C1334557']",['DOID:3620']
6864,13198,endemic goiter,"""A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency."" [url:https\://medicalguidelines.msf.org/viewport/CG/english/endemic-goitre-and-iodine-deficiency-18482487.html]",['NCIthesaurus'],"['ICD10CM:E01.2', 'ICD9CM:240.0', 'MESH:D006043', 'NCI:C35023', 'SNOMEDCT_US_2022_09_01:271949009', 'UMLS_CUI:C0018022']",['DOID:5113']
6872,13223,uterine fibroid,"""An uterine benign neoplasm derived from the smooth muscle layer of the uterus."" [url:http\://en.wikipedia.org/wiki/Uterine_fibroid, url:http\://www.nlm.nih.gov/medlineplus/uterinefibroids.html]",['NCIthesaurus'],"['EFO:0000731', 'ICD10CM:D25', 'ICD9CM:218', 'MESH:D007889', 'NCI:C3434', 'OMIM:150699', 'SNOMEDCT_US_2022_09_01:44598004', 'UMLS_CUI:C0042133']",['DOID:0060095']
6873,13226,oculoglandular tularemia,"""A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear."" [url:http\://www.cdc.gov/tularemia/signssymptoms/]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'tick-borne_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A21.1', 'ICD9CM:021.3', 'SNOMEDCT_US_2022_09_01:73363000', 'UMLS_CUI:C0152944']",['DOID:2123']
6875,13238,Haverhill fever,"""A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain."" [url:https\://en.wikipedia.org/wiki/Haverhill_fever]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A25.1', 'ICD9CM:026.1', 'SNOMEDCT_US_2022_09_01:52138004', 'UMLS_CUI:C0152063']",['DOID:0050338']
6877,1324,lung cancer,"""A respiratory system cancer that is located_in the lung."" [url:http\://en.wikipedia.org/wiki/Lung_cancer]","['DO_cancer_slim', 'DO_CFDE_slim', 'TopNodes_DOcancerslim']","['ICD10CM:C34.1', 'ICD10CM:C34.2', 'ICD10CM:C34.3', 'ICD9CM:162.3', 'ICD9CM:162.4', 'ICD9CM:162.5', 'ICD9CM:162.8', 'OMIM:211980', 'OMIM:608935', 'OMIM:612571', 'OMIM:612593', 'OMIM:614210', 'SNOMEDCT_US_2022_09_01:187860004', 'SNOMEDCT_US_2022_09_01:187864008', 'SNOMEDCT_US_2022_09_01:187868006', 'SNOMEDCT_US_2022_09_01:187874006', 'UMLS_CUI:C0024624', 'UMLS_CUI:C0153491', 'UMLS_CUI:C0153492', 'UMLS_CUI:C0153493']",['DOID:0050615']
6879,13241,Behcet's disease,"""A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis."" [url:http\://en.wikipedia.org/wiki/Beh%C3%A7et%27s_disease, url:http\://www.nlm.nih.gov/medlineplus/behcetssyndrome.html]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0003780', 'GARD:848', 'ICD10CM:M35.2', 'ICD9CM:136.1', 'MESH:D001528', 'NCI:C34416', 'OMIM:109650', 'SNOMEDCT_US_2022_09_01:310701003', 'UMLS_CUI:C0004943']",['DOID:865']
6883,13250,diarrhea,"""A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea."" [url:http\://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea]",['GOLD'],"['ICD9CM:009.2', 'MESH:D004403', 'SNOMEDCT_US_2022_09_01:154268000', 'UMLS_CUI:C0013369']",['DOID:77']
6886,13258,typhoid fever,"""A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia."" [url:http\://www.merriam-webster.com/medlineplus/typhoid%20fever]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus']","['GARD:9564', 'ICD10CM:A01.0', 'ICD9CM:002.0', 'MESH:D014435', 'NCI:C35089', 'SNOMEDCT_US_2022_09_01:186091002', 'UMLS_CUI:C0041466']",['DOID:0050338']
6887,13268,porphyria,"""An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins."" [url:http\://en.wikipedia.org/wiki/Porphyria#Subtypes]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10353', 'ICD10CM:E80.20', 'ICD9CM:277.1', 'MESH:D011164', 'NCI:C97096', 'SNOMEDCT_US_2022_09_01:190912004', 'UMLS_CUI:C0032708']",['DOID:655']
6889,13270,erythropoietic protoporphyria,"""An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue."" [url:http\://en.wikipedia.org/wiki/Erythropoietic_protoporphyria]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4527', 'ICD10CM:E80.0', 'MESH:D046351', 'NCI:C84698', 'OMIM:177000', 'OMIM:300752', 'ORDO:79278', 'SNOMEDCT_US_2022_09_01:51022005', 'UMLS_CUI:C0162568']",['DOID:3133']
6891,13272,Klebsiella pneumonia,"""A bacterial pneumonia involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis."" [url:http\://en.wikipedia.org/wiki/Klebsiella_pneumonia, url:https\://www.ncbi.nlm.nih.gov/pubmed/1555037]","['DO_IEDB_slim', 'DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease']","['ICD10CM:J15.0', 'ICD9CM:482.0', 'MESH:D007710']",['DOID:874']
6892,13276,Mycoplasma pneumoniae pneumonia,"""A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat."" [url:http\://en.wikipedia.org/wiki/Pneumonia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000082.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/20632053]","['DO_IEDB_slim', 'DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease']","['ICD10CM:J15.7', 'ICD9CM:483.0', 'MESH:D011019']",['DOID:874']
6893,1328,Rift Valley fever,"""A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites."" [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/rvf/rvf_qa.htm, url:http\://www.who.int/mediacentre/factsheets/fs207/en/]","['DO_infectious_disease_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['ICD10CM:A92.4', 'MESH:D012295', 'NCI:C128419', 'SNOMEDCT_US_2022_09_01:7077006', 'UMLS_CUI:C0035613']",['DOID:934']
6894,13282,intestinal tuberculosis,"""A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting."" [url:http\://smj.sma.org.sg/5006/5006pe1.pdf]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD9CM:014.8', 'UMLS_CUI:C0152724']",['DOID:404']
6896,133,vaginal Mullerian papilloma,"""A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26948653]",['NCIthesaurus'],"['NCI:C40255', 'UMLS_CUI:C1519926']",['DOID:0060114']
6897,13300,Scheuermann's disease,"""An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column."" [url:http\://en.wikipedia.org/wiki/Scheuermann%27s_disease, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Scheuermann%27s%20disease]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7610', 'ICD10CM:M42.0', 'ICD9CM:732.0', 'MESH:D012544', 'NCI:C34999', 'OMIM:181440', 'SNOMEDCT_US_2022_09_01:53406005', 'UMLS_CUI:C0036310']",['DOID:8125']
6901,13316,exocrine pancreatic insufficiency,"""A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK555926/]",['NCIthesaurus'],"['ICD10CM:K86.81', 'MESH:D010188', 'NCI:C84316', 'SNOMEDCT_US_2022_09_01:47367009', 'UMLS_CUI:C0267963']",['DOID:26']
6902,13317,hyperinsulinemic hypoglycemia,"""A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin."" [url:http\://en.wikipedia.org/wiki/Hyperinsulinemic_hypoglycemia]",['NCIthesaurus'],"['ICD10CM:E16.9', 'MESH:D046768', 'NCI:C4375', 'OMIM:PS256450', 'SNOMEDCT_US_2022_09_01:42681006', 'UMLS_CUI:C0027773']",['DOID:2978']
6908,13336,congenital toxoplasmosis,"""A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur."" [url:http\://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh, url:http\://www.who.int/bulletin/volumes/91/7/12-111732.pdf]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:10326', 'ICD10CM:P37.1', 'MESH:D014125', 'NCI:C50503', 'SNOMEDCT_US_2022_09_01:268875000', 'UMLS_CUI:C0040560']",['DOID:9965']
6916,13359,Ehlers-Danlos syndrome,"""A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules."" [url:http\://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome, url:http\://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome, url:http\://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706, url:http\://www.merriam-webster.com/medlineplus/ehlers-Danlos, url:http\://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html, url:https\://www.ehlers-danlos.com/what-is-eds/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23711271]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6322', 'ICD10CM:Q79.6', 'ICD9CM:756.83', 'MESH:D004535', 'NCI:C34568', 'OMIM:PS130000', 'SNOMEDCT_US_2022_09_01:268352002', 'UMLS_CUI:C0013720']",['DOID:854']
6918,13366,Stiff-Person syndrome,"""A movement disease that is of unknown etiology characterized by progressive rigidity."" [url:http\://en.wikipedia.org/wiki/Stiff_person_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5023', 'ICD10CM:G25.82', 'ICD9CM:333.91', 'MESH:D016750', 'NCI:C85170', 'OMIM:184850', 'SNOMEDCT_US_2022_09_01:5217008', 'UMLS_CUI:C0085292']",['DOID:480']
6919,13368,tinea profunda,"""A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses."" [url:https\://www.medigoo.com/articles/tinea-profunda/]",['DO_infectious_disease_slim'],"['SNOMEDCT_US_2022_09_01:58950002', 'UMLS_CUI:C1279621']",['DOID:12179']
6920,13369,tinea manuum,"""A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling."" [url:http\://en.wikipedia.org/wiki/Tinea_manuum]",['DO_infectious_disease_slim'],"['ICD10CM:B35.2', 'ICD9CM:110.2', 'MESH:C000656824', 'SNOMEDCT_US_2022_09_01:48971001', 'UMLS_CUI:C0153246']",['DOID:8913']
6921,13371,scrub typhus,"""A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy."" [url:http\://en.wikipedia.org/wiki/Scrub_typhus]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A75.3', 'ICD9CM:081.2', 'MESH:D012612', 'SNOMEDCT_US_2022_09_01:73911003', 'UMLS_CUI:C0036472']",['DOID:11256']
6922,13372,alpha 1-antitrypsin deficiency,"""A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells."" [url:http\://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000120.htm]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:5784', 'ICD10CM:E88.01', 'ICD9CM:273.4', 'MESH:D019896', 'NCI:C84397', 'OMIM:613490', 'SNOMEDCT_US_2022_09_01:30188007', 'UMLS_CUI:C0221757']",['DOID:2345']
6923,13374,fibrodysplasia ossificans progressiva,"""A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene."" [url:http\://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva, url:http\://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/, url:https\://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia-ossificans-progressiva]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6445', 'ICD10CM:M61.1', 'ICD9CM:728.11', 'MESH:D009221', 'NCI:C3040', 'OMIM:135100', 'ORDO:337', 'SNOMEDCT_US_2022_09_01:82725007', 'UMLS_CUI:C0016037']",['DOID:65']
6924,13375,temporal arteritis,"""A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head."" [url:https\://www.mayoclinic.org/diseases-conditions/giant-cell-arteritis/symptoms-causes/syc-20372758]","['DO_rare_slim', 'NCIthesaurus']","['ICD9CM:446.5', 'MESH:D013700', 'NCI:C35065', 'OMIM:187360', 'ORDO:397', 'SNOMEDCT_US_2022_09_01:195354005', 'UMLS_CUI:C0039483']",['DOID:525']
6925,13378,Kawasaki disease,"""A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities."" [url:http\://en.wikipedia.org/wiki/Kawasaki_disease]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0004246', 'GARD:6816', 'ICD10CM:M30.3', 'ICD9CM:446.1', 'MESH:D009080', 'NCI:C34825', 'OMIM:611775', 'SNOMEDCT_US_2022_09_01:75053002', 'UMLS_CUI:C0026691']",['DOID:1602']
6926,1338,congenital dyserythropoietic anemia,"""A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood."" [url:http\://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia, url:http\://www.ncbi.nlm.nih.gov/books/NBK5313/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1999', 'ICD10CM:D64.4', 'MESH:D000742', 'NCI:C84646', 'OMIM:PS224120', 'ORDO:85', 'SNOMEDCT_US_2022_09_01:191272005', 'UMLS_CUI:C0002876']",['DOID:589']
6927,13381,pernicious anemia,"""A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors."" [url:https\://medlineplus.gov/ency/article/000569.htm, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3441227/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:12671', 'ICD10CM:D51.0', 'ICD9CM:281.0', 'MESH:D000752', 'NCI:C2871', 'OMIM:170900', 'SNOMEDCT_US_2022_09_01:191139001', 'UMLS_CUI:C0002892']",['DOID:5113']
6928,13382,megaloblastic anemia,"""A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production."" [url:http\://en.wikipedia.org/wiki/Megaloblastic_anemia]",['NCIthesaurus'],"['ICD10CM:D53.1', 'MESH:D000749', 'NCI:C34382', 'OMIM:261100', 'OMIM:613839', 'SNOMEDCT_US_2022_09_01:191138009', 'UMLS_CUI:C0002888']",['DOID:2361']
6929,13386,gastrointestinal anthrax,"""An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite."" [url:http\://www.springerlink.com/content/g3575hwr232l4411/, url:https\://en.wikipedia.org/wiki/Anthrax#Gastrointestinal]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A22.2', 'ICD9CM:022.2', 'MESH:C571911', 'SNOMEDCT_US_2022_09_01:186302005', 'UMLS_CUI:C0152945']",['DOID:7427']
6930,13389,labia majora carcinoma,"""A vulva carcinoma that is located_in the labia majora."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27917514]",['NCIthesaurus'],"['NCI:C9363', 'UMLS_CUI:C1334356']",['DOID:1294']
6931,1339,Diamond-Blackfan anemia,"""A congenital hypoplastic anemia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction."" [url:http\://en.wikipedia.org/wiki/Diamond%E2%80%93Blackfan_anemia, url:http\://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia, url:http\://www.cdc.gov/ncbddd/dba/, url:http\://www.omim.org/entry/105650]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6274', 'ICD10CM:D61.01', 'MESH:D029503', 'NCI:C61236', 'OMIM:PS105650', 'ORDO:124']",['DOID:1342']
6932,13399,color blindness,"""A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions."" [url:http\://en.wikipedia.org/wiki/Color_blindness]",['NCIthesaurus'],"['ICD10CM:H53.5', 'ICD9CM:368.5', 'MESH:D003117', 'NCI:C3891', 'SNOMEDCT_US_2022_09_01:193683001', 'UMLS_CUI:C0242225']",['DOID:1432']
6933,134,vaginal glandular tumor,"""A vaginal cancer that has_material_basis_in glandular tissue."" [url:https\://www.mayoclinic.org/diseases-conditions/vaginal-cancer/symptoms-causes/syc-20352447]",['NCIthesaurus'],"['NCI:C40250', 'UMLS_CUI:C1519921']",['DOID:119']
6937,13403,neurosarcoidosis,"""A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975794/]",['NCIthesaurus'],"['NCI:C35441', 'SNOMEDCT_US_2022_09_01:111936002', 'UMLS_CUI:C0398676']",['DOID:11335']
6939,13405,cardiac sarcoidosis,"""A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731586/]",['NCIthesaurus'],"['NCI:C35589', 'SNOMEDCT_US_2022_09_01:75403004', 'UMLS_CUI:C0392077']",['DOID:11335']
6940,13406,pulmonary sarcoidosis,"""A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction."" [url:https\://www.atsjournals.org/doi/full/10.1164/rccm.201006-0865CI]",['NCIthesaurus'],"['ICD10CM:D86.0', 'MEDDRA:10037430', 'MESH:D017565', 'NCI:C34997', 'SNOMEDCT_US_2022_09_01:187230004', 'UMLS_CUI:C0036205']",['DOID:11335']
6943,13413,hepatic encephalopathy,"""A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood."" [url:https\://en.wikipedia.org/wiki/Hepatic_encephalopathy]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10452', 'ICD10CM:K76.82', 'ICD9CM:572.2', 'MESH:D006501', 'NCI:C79596', 'SNOMEDCT_US_2022_09_01:197332007', 'UMLS_CUI:C0019151']",['DOID:936']
6948,13431,bejel,"""A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. The infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face."" [url:http\://en.wikipedia.org/wiki/Bejel, url:http\://www.merckmanuals.com/home/sec17/ch190/ch190d.html]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease']","['GARD:5905', 'MESH:D014211', 'SNOMEDCT_US_2022_09_01:186978001', 'UMLS_CUI:C0004945']",['DOID:0050338']
6949,13444,glanders,"""A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs."" [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/glanders/]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:9536', 'ICD10CM:A24.0', 'ICD9CM:024', 'MESH:D005896', 'NCI:C34638', 'SNOMEDCT_US_2022_09_01:4639008', 'UMLS_CUI:C0017589']",['DOID:0050338']
6953,13450,coccidioidomycosis,"""A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules."" [url:http\://www.merck.com/mmhe/sec17/ch197/ch197e.html]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9525', 'ICD10CM:B38', 'ICD9CM:114', 'MESH:D003047', 'NCI:C84642', 'SNOMEDCT_US_2022_09_01:266218008', 'UMLS_CUI:C0009186']",['DOID:0050292']
6961,13477,balanitis xerotica obliterans,"""A balantitis characterized by white plaques or patches on genitals."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24295833]",['NCIthesaurus'],"['ICD9CM:607.81', 'NCI:C3523', 'SNOMEDCT_US_2022_09_01:198028006', 'UMLS_CUI:C0152460']",['DOID:13033']
6962,13481,thanatophoric dysplasia,"""An osteochondrodysplasia that results_in short arms and legs with excess folds of skin."" [url:http\://en.wikipedia.org/wiki/Thanatophoric_dysplasia, url:http\://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:85', 'ICD10CM:Q77.1', 'MESH:D013796', 'NCI:C85187', 'OMIM:187600', 'OMIM:187601', 'OMIM:273680', 'ORDO:1860', 'ORDO:2655', 'ORDO:93274', 'ORDO:93275', 'SNOMEDCT_US_2022_09_01:29352008', 'UMLS_CUI:C0039743']",['DOID:2256']
6963,13482,Proteus syndrome,"""A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues."" [url:https\://ghr.nlm.nih.gov/condition/proteus-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK99495/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7475', 'MESH:D016715', 'NCI:C85032', 'OMIM:176920', 'SNOMEDCT_US_2022_09_01:394527003', 'UMLS_CUI:C0085261']",['DOID:0080191']
6964,13487,childhood disintegrative disease,"""A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress."" [url:http\://en.wikipedia.org/wiki/Heller%27s_syndrome, url:http\://www.patient.co.uk/doctor/Heller%27s-Syndrome.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6040', 'ICD10CM:F84.3', 'ICD9CM:299.1', 'NCI:C97164', 'SNOMEDCT_US_2022_09_01:71961003', 'UMLS_CUI:C0236791']",['DOID:0060040']
6970,135,benign vaginal carcinosarcoma,"""A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components."" [url:https\://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5]",['NCIthesaurus'],"['NCI:C40275', 'UMLS_CUI:C1511106']",['DOID:0060114']
6973,13501,Moebius syndrome,"""A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s)."" [url:https\://pubmed.ncbi.nlm.nih.gov/33474647/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082742/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8549', 'ICD10CM:Q87.0', 'MESH:D020331', 'NCI:C84893', 'OMIM:157900', 'SNOMEDCT_US_2022_09_01:89444000', 'UMLS_CUI:C0221060']",['DOID:1756']
6976,13515,tuberous sclerosis,"""A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body."" [url:https\://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#synonyms]","['DO_cancer_slim', 'DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7830', 'ICD10CM:Q85.1', 'ICD9CM:759.5', 'MESH:D014402', 'NCI:C3424', 'OMIM:PS191100', 'SNOMEDCT_US_2022_09_01:157033002', 'UMLS_CUI:C0041341']",['DOID:225']
6979,13521,tetanus neonatorum,"""A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion."" [url:https\://en.wikipedia.org/wiki/Neonatal_tetanus]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['ICD10CM:A33', 'ICD9CM:771.3', 'NCI:C116814', 'SNOMEDCT_US_2022_09_01:43424001', 'UMLS_CUI:C0343312']",['DOID:11338']
6980,13523,loiasis,"""A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis."" [url:http\://en.wikipedia.org/wiki/Loiasis]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:3283', 'ICD10CM:B74.3', 'ICD9CM:125.2', 'MESH:D008118', 'NCI:C34784', 'SNOMEDCT_US_2022_09_01:44250009', 'UMLS_CUI:C0023968']",['DOID:1080']
6981,13533,osteopetrosis,"""An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones."" [url:http\://en.wikipedia.org/wiki/Osteopetrosis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4155', 'ICD10CM:Q78.2', 'ICD9CM:756.52', 'MESH:D010022', 'NCI:C26840', 'OMIM:PS259700', 'OMIM:PS607634', 'ORDO:667', 'SNOMEDCT_US_2022_09_01:205500005', 'UMLS_CUI:C0029454']",['DOID:4254']
6984,13543,hyperparathyroidism,"""A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body."" [url:http\://en.wikipedia.org/wiki/Hyperparathyroidism, url:http\://ghr.nlm.nih.gov/glossary=hyperparathyroidism]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:E21.3', 'ICD9CM:252.0', 'MESH:D006961', 'NCI:C48259', 'OMIM:145000', 'OMIM:145001', 'OMIM:610071', 'ORDO:99879', 'SNOMEDCT_US_2022_09_01:190451000', 'UMLS_CUI:C0020502']",['DOID:11201']
6989,13550,angle-closure glaucoma,"""A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis."" [url:https\://en.wikipedia.org/wiki/Glaucoma, url:https\://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma]",['NCIthesaurus'],"['MESH:D015812', 'NCI:C34639', 'SNOMEDCT_US_2022_09_01:270882001', 'UMLS_CUI:C0017605']",['DOID:1686']
6992,13564,aspergillosis,"""An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system."" [url:http\://mycology.adelaide.edu.au/Mycoses/Opportunistic/Aspergillosis/, url:http\://www.mayoclinic.com/print/aspergillosis/DS00950/METHOD=print&DSECTION=all]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:5856', 'ICD10CM:B44', 'ICD9CM:117.3', 'MESH:D001228', 'NCI:C2886', 'SNOMEDCT_US_2022_09_01:266218008', 'UMLS_CUI:C0004030']",['DOID:2473']
6993,13565,neuroaspergillosis,"""An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aspergillosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/17377359]",['DO_infectious_disease_slim'],"['MESH:D020953', 'UMLS_CUI:C0752342']",['DOID:13564']
7001,13580,cholestasis,"""A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum."" [url:https\://en.wikipedia.org/wiki/Cholestasis]",['NCIthesaurus'],"['ICD10CM:K83.1', 'ICD9CM:576.2', 'MESH:D002779', 'NCI:C83006', 'SNOMEDCT_US_2022_09_01:33688009', 'UMLS_CUI:C0008370']",['DOID:4138']
7004,13593,eclampsia,"""A pre-eclampsia characterized by the presence of seizures."" [url:http\://ghr.nlm.nih.gov/condition/preeclampsia, url:https\://www.ncbi.nlm.nih.gov/pubmed/24400024]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6316', 'ICD10CM:O15', 'MESH:D004461', 'NCI:C87167', 'SNOMEDCT_US_2022_09_01:156111007', 'UMLS_CUI:C0013537']",['DOID:10591']
7005,136,vaginal carcinosarcoma,"""A vaginal carcinoma that has_material_basis_in connective tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12588439]",['NCIthesaurus'],"['NCI:C40274', 'NCI:C40276', 'NCI:C40278', 'UMLS_CUI:C1512974', 'UMLS_CUI:C1519918', 'UMLS_CUI:C1519924']",['DOID:0050918']
7007,13603,obstructive jaundice,"""A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction."" [url:https\://en.wikipedia.org/wiki/Jaundice]",['NCIthesaurus'],"['MESH:D041781', 'NCI:C34742', 'SNOMEDCT_US_2022_09_01:59848001', 'UMLS_CUI:C0022354']",['DOID:13580']
7008,13608,biliary atresia,"""A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder."" [url:http\://en.wikipedia.org/wiki/Biliary_atresia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000215.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:12010', 'ICD10CM:Q44.2', 'ICD9CM:751.61', 'MESH:D001656', 'NCI:C34421', 'OMIM:210500', 'ORDO:30391', 'SNOMEDCT_US_2022_09_01:77480004', 'UMLS_CUI:C0005411']",['DOID:13580']
7010,13619,extrahepatic cholestasis,"""A cholestasis resulting from causes located_in bile ducts outside the liver."" [url:https\://medlineplus.gov/ency/article/000215.htm]",['NCIthesaurus'],"['MESH:D001651', 'NCI:C34420', 'SNOMEDCT_US_2022_09_01:20719006', 'UMLS_CUI:C0005398']",['DOID:13580']
7011,1362,paranasal sinus sarcoma,"""A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus."" [url:http\://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient]",['NCIthesaurus'],"['NCI:C6849', 'UMLS_CUI:C1335342']",['DOID:0050619']
7013,13622,campylobacteriosis,"""A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever."" [url:http\://en.wikipedia.org/wiki/Campylobacteriosis, url:https\://www.health.ny.gov/diseases/communicable/campylobacteriosis/fact_sheet.htm]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease']","['MESH:D002169', 'SNOMEDCT_US_2022_09_01:86500004', 'UMLS_CUI:C0006818']",['DOID:2326']
7015,13628,favism,"""A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans."" [url:http\://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency]",['NCIthesaurus'],"['ICD10CM:D55.0', 'MESH:D005236', 'NCI:C34607', 'SNOMEDCT_US_2022_09_01:154801000', 'UMLS_CUI:C0015702']",['DOID:2862']
7018,13636,Fanconi anemia,"""A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair."" [url:http\://en.wikipedia.org/wiki/Fanconi_anemia, url:http\://ghr.nlm.nih.gov/condition/fanconi-anemia, url:http\://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6425', 'ICD10CM:D61.09', 'MESH:D005199', 'NCI:C62505', 'OMIM:PS227650', 'ORDO:84', 'SNOMEDCT_US_2022_09_01:30575002', 'UMLS_CUI:C0015625']",['DOID:1342']
7020,13641,exfoliation syndrome,"""A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157521/]",['NCIthesaurus'],"['EFO:0004235', 'ICD9CM:365.52', 'MESH:D017889', 'NCI:C129025', 'OMIM:177650', 'SNOMEDCT_US_2022_09_01:111514006', 'UMLS_CUI:C0206368']",['DOID:12571']
7031,13677,SAPHO syndrome,"""A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC8802951/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7606', 'MESH:D020083', 'NCI:C119049', 'SNOMEDCT_US_2022_09_01:60684003', 'UMLS_CUI:C0263859']",['DOID:225']
7035,13691,dermoid cyst of skin,"""A dermoid cyst that is located_in the skin."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23488469]",['NCIthesaurus'],"['NCI:C4632', 'SNOMEDCT_US_2022_09_01:154630005', 'UMLS_CUI:C0349502']",['DOID:2658']
7036,137,vaginal squamous papilloma,"""A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C6374]",['NCIthesaurus'],"['NCI:C6374', 'UMLS_CUI:C1336943']",['DOID:0060114']
7038,1371,uterine corpus adenomatoid tumor,"""An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917104/]",['NCIthesaurus'],"['NCI:C27250', 'UMLS_CUI:C1336902']",['DOID:0060095']
7039,13711,dental fluorosis,"""A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation."" [url:https\://pubmed.ncbi.nlm.nih.gov/21701193/]",['NCIthesaurus'],"['ICD10CM:K00.3', 'ICD9CM:520.3', 'MESH:D009050', 'NCI:C85059', 'SNOMEDCT_US_2022_09_01:30265004', 'UMLS_CUI:C0026618']",['DOID:1091']
7040,13714,anodontia,"""A tooth disease that is characterized by complete absence of permanent teeth."" [url:https\://rarediseases.info.nih.gov/diseases/5818/index]",['DO_rare_slim'],"['GARD:5818', 'ICD10CM:K00.0', 'ICD9CM:520.0', 'MESH:D000848', 'NCI:C172328', 'OMIM:206780', 'SNOMEDCT_US_2022_09_01:234951001', 'UMLS_CUI:C0399352']",['DOID:1091']
7042,13722,neuroschistosomiasis,"""A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure."" [url:https\://www.ajtmh.org/view/journals/tpmd/76/5/article-p964.xml, url:https\://www.ncbi.nlm.nih.gov/pubmed/16138195, url:https\://wwwnc.cdc.gov/eid/article/12/9/06-0113_article]",['DO_infectious_disease_slim'],"['MESH:D020818', 'SNOMEDCT_US_2022_09_01:1177012000', 'UMLS_CUI:C0752191']",['DOID:1395']
7043,13724,scurvy,"""A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing."" [url:https\://medlineplus.gov/ency/article/000355.htm, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567249/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10406', 'ICD10CM:E54', 'MESH:D012614', 'NCI:C35010', 'OMIM:240400', 'SNOMEDCT_US_2022_09_01:267493006', 'UMLS_CUI:C0036474']",['DOID:5113']
7044,13725,beriberi,"""A thiamine deficiency disease that is characterized by being severe and chronic."" [url:https\://en.wikipedia.org/wiki/Thiamine_deficiency, url:https\://medlineplus.gov/ency/article/000339.htm, url:https\://rarediseases.info.nih.gov/diseases/9948/beriberi]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9948', 'ICD10CM:E51.1', 'ICD9CM:265.0', 'MESH:D001602', 'NCI:C34418', 'SNOMEDCT_US_2022_09_01:267491008', 'UMLS_CUI:C0005122']",['DOID:0070313']
7045,1373,endometrial stromal nodule,"""An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma."" [url:http\://www.pathologyoutlines.com/topic/uterusstromalnodule.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/26221551]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8930/0', 'NCI:C4262', 'SNOMEDCT_US_2022_09_01:189810002', 'UMLS_CUI:C0334485']",['DOID:0060095']
7053,13743,spinal cord lipoma,"""A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord."" [url:http\://neurosurgery.ucla.edu/spinal-cord-lipomas-lipomyelomeningoceles]",['NCIthesaurus'],"['NCI:C4619', 'SNOMEDCT_US_2022_09_01:189017000', 'UMLS_CUI:C0347446']",['DOID:6293']
7057,13760,Pthirus pubis infestation,"""A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin."" [url:http\://www.cdc.gov/lice/pubic/disease.html]","['DO_infectious_disease_slim', 'NCIthesaurus', 'sexually_transmitted_infectious_disease']","['ICD10CM:B85.3', 'ICD9CM:132.2', 'NCI:C35777', 'SNOMEDCT_US_2022_09_01:71011005', 'UMLS_CUI:C0030759']",['DOID:5502']
7058,13767,clonorchiasis,"""A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop."" [url:http\://en.wikipedia.org/wiki/Clonorchiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Clonorchiasis.htm]",['DO_infectious_disease_slim'],"['ICD10CM:B66.1', 'ICD9CM:121.1', 'MESH:D003003', 'SNOMEDCT_US_2022_09_01:11938002', 'UMLS_CUI:C0009021']",['DOID:883']
7059,13768,opisthorchiasis,"""A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and chlolangiocarcinoma."" [url:http\://en.wikipedia.org/wiki/Opisthorchiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm]","['DO_infectious_disease_slim', 'DO_rare_slim']","['GARD:9746', 'ICD10CM:B66.0', 'ICD9CM:121.0', 'MESH:D009889', 'SNOMEDCT_US_2022_09_01:187124006', 'UMLS_CUI:C0029106']",['DOID:883']
7060,13774,Addison's disease,"""An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands."" [url:http\://en.wikipedia.org/wiki/Addison%27s_disease]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5740', 'ICD10CM:E27.1', 'MESH:D000224', 'NCI:C26689', 'OMIM:103230', 'OMIM:240200', 'SNOMEDCT_US_2022_09_01:363732003', 'UMLS_CUI:C0001403']",['DOID:10493']
7061,13775,plantar wart,"""A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot."" [url:http\://en.wikipedia.org/wiki/Plantar_wart]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B07.0', 'ICD9CM:078.12', 'NCI:C26913', 'SNOMEDCT_US_2022_09_01:154363006', 'UMLS_CUI:C0042548']",['DOID:934']
7062,13777,epidermodysplasia verruciformis,"""A primary immunodeficiency disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body."" [url:http\://en.wikipedia.org/wiki/Epidermodysplasia_verruciformis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6357', 'MESH:D004819', 'NCI:C126877', 'OMIM:PS226400', 'ORDO:302', 'SNOMEDCT_US_2022_09_01:19138001', 'UMLS_CUI:C0014522']",['DOID:612']
7063,13778,chancroid,"""A primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted by sexual contact. The infection has symptom painful and soft ulcers."" [url:http\://en.wikipedia.org/wiki/Chancroid]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'sexually_transmitted_infectious_disease']","['GARD:9522', 'ICD10CM:A57', 'ICD9CM:099.0', 'MESH:D002602', 'SNOMEDCT_US_2022_09_01:154391003', 'UMLS_CUI:C0007947']",['DOID:0050338']
7072,138,vaginal squamous tumor,"""A vaginal cancer that has_material_basis_in squamous tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23057430]",['NCIthesaurus'],"['NCI:C40242', 'UMLS_CUI:C1519931']",['DOID:119']
7073,1380,endometrial cancer,"""A uterine cancer that is located_in tissues lining the uterus."" [url:http\://www.cancer.gov/dictionary?CdrID=444987]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['EFO:0004230', 'GARD:11981', 'ICD10CM:C54.1', 'KEGG:05213', 'MESH:D016889', 'NCI:C27815', 'NCI:C3012', 'OMIM:608089', 'SNOMEDCT_US_2022_09_01:123844007', 'UMLS_CUI:C0007103', 'UMLS_CUI:C0014170']",['DOID:363']
7074,13800,inclusion conjunctivitis,"""A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus."" [url:https\://www.visualdx.com/visualdx/diagnosis/inclusion+conjunctivitis?diagnosisId=54853&moduleId=101]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease']","['GARD:6777', 'ICD10CM:A74.0', 'ICD9CM:077.0', 'MESH:D003235', 'SNOMEDCT_US_2022_09_01:111840005', 'UMLS_CUI:C0009770']",['DOID:0050339']
7075,13801,pharyngoconjunctival fever,"""A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache."" [url:http\://en.wikipedia.org/wiki/Pharyngoconjunctival_fever]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD9CM:077.2', 'MESH:D000258', 'NCI:C34924', 'SNOMEDCT_US_2022_09_01:70385007', 'UMLS_CUI:C0031351']",['DOID:934']
7077,1381,Fox-Fordyce disease,"""A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746034/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6462', 'ICD10CM:L75.2', 'ICD9CM:705.82', 'MESH:D005588', 'NCI:C84716', 'SNOMEDCT_US_2022_09_01:254682006', 'UMLS_CUI:C0016632']",['DOID:1383']
7078,13810,familial hypercholesterolemia,"""A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease."" [url:http\://en.wikipedia.org/wiki/Familial_hypercholesterolemia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10416', 'ICD10CM:E78.01', 'MESH:D006938', 'NCI:C34704', 'OMIM:143890', 'ORDO:406', 'SNOMEDCT_US_2022_09_01:190772003', 'UMLS_CUI:C0020445']",['DOID:1168']
7081,13814,hypoglossal nerve disease,"""A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve)."" [url:https\://www.merckmanuals.com/home/brain\,-spinal-cord\,-and-nerve-disorders/cranial-nerve-disorders/hypoglossal-nerve-disorders]",['NCIthesaurus'],"['ICD10CM:G52.3', 'ICD9CM:352.5', 'MESH:D020437', 'NCI:C26954', 'SNOMEDCT_US_2022_09_01:24777009', 'UMLS_CUI:C0152181']",['DOID:3418']
7082,13819,lymphogranuloma venereum,"""A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis."" [url:http\://en.wikipedia.org/wiki/Lymphogranuloma_venereum]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'sexually_transmitted_infectious_disease']","['GARD:9545', 'ICD10CM:A55', 'ICD9CM:099.1', 'MESH:D008219', 'NCI:C26822', 'SNOMEDCT_US_2022_09_01:266213004', 'UMLS_CUI:C0024286']",['DOID:0050339']
7083,1382,miliaria,"""A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts."" [url:http\://www.pathologyoutlines.com/topic/skinnontumormiliaria.html, url:https\://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html, url:https\://www.ncbi.nlm.nih.gov/books/NBK537176/, url:https\://www.ncbi.nlm.nih.gov/pubmed/30725861]",['NCIthesaurus'],"['ICD10CM:L74.3', 'MESH:D008883', 'NCI:C34820', 'SNOMEDCT_US_2022_09_01:63951004', 'UMLS_CUI:C0026113']",['DOID:1383']
7084,13822,tetanic cataract,"""A cataract resulting from hypocalcemia."" [url:https\://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35068]",['NCIthesaurus'],"['ICD9CM:366.42', 'NCI:C35068', 'SNOMEDCT_US_2022_09_01:193607003', 'UMLS_CUI:C0039613']",['DOID:83']
7090,1386,abetalipoproteinemia,"""A hypolipoproteinemia that is characterized by an inablility to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS."" [url:http\://en.wikipedia.org/wiki/Abetalipoproteinemia, url:http\://rarediseases.info.nih.gov/gard/5/abetalipoproteinemia/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=14]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5', 'ICD10CM:E78.6', 'MESH:D000012', 'NCI:C84525', 'OMIM:200100', 'SNOMEDCT_US_2022_09_01:83123000', 'UMLS_CUI:C0000744']",['DOID:1387']
7098,1387,hypolipoproteinemia,"""A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood."" [url:https\://en.wikipedia.org/wiki/Hypolipoproteinemia, url:https\://rarediseases.info.nih.gov/diseases/8394/hypolipoproteinemia]",['DO_rare_slim'],"['GARD:8394', 'ICD10CM:E78.6', 'ICD9CM:272.5', 'MESH:D007009', 'SNOMEDCT_US_2022_09_01:363140000', 'UMLS_CUI:C0020623']",['DOID:3146']
7099,1388,Tangier disease,"""A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31."" [url:https\://pubmed.ncbi.nlm.nih.gov/10431236/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7731', 'ICD10CM:E78.6', 'MESH:D013631', 'NCI:C85182', 'OMIM:205400', 'SNOMEDCT_US_2022_09_01:190783007', 'UMLS_CUI:C0039292']",['DOID:1387']
7101,1389,polyneuropathy,"""A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain."" [url:https\://en.wikipedia.org/wiki/Polyneuropathy, url:https\://www.virginiamason.org/polyneuropathy]","['DO_FlyBase_slim', 'NCIthesaurus']","['ICD10CM:A69.22', 'MESH:D011115', 'NCI:C26951', 'SNOMEDCT_US_2022_09_01:193166009', 'UMLS_CUI:C0152025']",['DOID:574']
7102,13891,bird fancier's lung,"""An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen."" [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1841781/pdf/brmedj02140-0025.pdf]",['NCIthesaurus'],"['ICD10CM:J67.2', 'ICD9CM:495.2', 'MESH:D001716', 'NCI:C34425', 'SNOMEDCT_US_2022_09_01:69339004', 'UMLS_CUI:C0005592']",['DOID:841']
7105,13902,white piedra,"""A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft."" [url:http\://mycology.adelaide.edu.au/Mycoses/Superficial/White_piedra/]",['DO_infectious_disease_slim'],"['ICD10CM:B36.2', 'ICD9CM:111.2', 'MESH:D010854', 'SNOMEDCT_US_2022_09_01:266218008', 'SNOMEDCT_US_2022_09_01:35586003', 'UMLS_CUI:C0031898', 'UMLS_CUI:C0040249']",['DOID:0050133']
7109,13911,achromatopsia,"""A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance."" [url:http\://en.wikipedia.org/wiki/Achromatopsia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1418/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=49382, url:http\://www.sciencedirect.com/science/article/pii/S0161642009010008]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:H53.51', 'ICD9CM:368.54', 'MESH:D003117', 'NCI:C84528', 'ORDO:49382', 'SNOMEDCT_US_2022_09_01:56852002', 'UMLS_CUI:C0152200']",['DOID:13399']
7116,13922,eosinophilic esophagitis,"""An esophagitis characterized by inflammation involving eosinophils located_in esophagus."" [url:http\://en.wikipedia.org/wiki/Eosinophilic_esophagitis]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0004232', 'ICD10CM:K20.0', 'ICD9CM:530.13', 'MESH:D057765', 'NCI:C27105', 'OMIM:610247', 'OMIM:613412', 'ORDO:73247', 'SNOMEDCT_US_2022_09_01:235599003', 'UMLS_CUI:C0341106']",['DOID:11963']
7119,1393,visual pathway disease,"""An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35342]",['NCIthesaurus'],"['ICD10CM:H47.9', 'NCI:C35342', 'SNOMEDCT_US_2022_09_01:54767005', 'UMLS_CUI:C0155287']",['DOID:5614']
7121,13938,amenorrhea,"""A female reproductive system disease that is characterized by the absence of menstruation."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23939500]",['NCIthesaurus'],"['ICD10CM:N91.2', 'ICD9CM:626.0', 'MESH:D000568', 'NCI:C61443', 'SNOMEDCT_US_2022_09_01:156034000', 'UMLS_CUI:C0002453']",['DOID:229']
7122,1394,urinary schistosomiasis,"""A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer."" [url:http\://en.wikipedia.org/wiki/Schistosoma_haematobium, url:http\://www.dpd.cdc.gov/dpdx/HTML/Schistosomiasis.htm]","['DO_infectious_disease_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['ICD9CM:120.0', 'MESH:D012553', 'NCI:C39294', 'SNOMEDCT_US_2022_09_01:60979006', 'UMLS_CUI:C0276926']",['DOID:1395']
7123,13941,benign paroxysmal positional vertigo,"""A peripheral vertigo that is characterized by episodic vertigo followed by gait imbalance and oscillopsia with profound bilateral vestibular loss despite normal hearing."" [url:https\://pubmed.ncbi.nlm.nih.gov/8290084/]",['DO_rare_slim'],"['GARD:5915', 'ICD9CM:386.11', 'MESH:D065635', 'OMIM:193007', 'OMIM:613106', 'SNOMEDCT_US_2022_09_01:111541001', 'UMLS_CUI:C0155502']",['DOID:9847']
7126,13945,CADASIL,"""A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10476042, url:https\://www.ncbi.nlm.nih.gov/pubmed/8878478]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1049', 'ICD10CM:I67.850', 'MESH:D046589', 'NCI:C84606', 'OMIM:600142', 'OMIM:PS125310', 'ORDO:136', 'SNOMEDCT_US_2022_09_01:390723008', 'UMLS_CUI:C0751587']",['DOID:10579']
7129,1395,schistosomiasis,"""A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria."" [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001321.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=schistosomiasis]","['DO_infectious_disease_slim', 'DO_rare_slim']","['GARD:9687', 'ICD9CM:120.8', 'SNOMEDCT_US_2022_09_01:187116001', 'UMLS_CUI:C0029827']",['DOID:883']
7130,13951,uterine corpus epithelioid leiomyoma,"""An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures."" [url:http\://www.pathologyoutlines.com/topic/uterusleiomyomavariants.html#epithelioid]",['NCIthesaurus'],"['NCI:C40164', 'UMLS_CUI:C1519850']",['DOID:13223']
7131,13953,uterine corpus dissecting leiomyoma,"""A uterine fibroid that is characterized by the presence of intramural tearing."" [url:http\://www.turkjpath.org/text.php3?doi=10.5146/tjpath.2011.01085, url:https\://www.ncbi.nlm.nih.gov/pubmed/23370645]",['NCIthesaurus'],"['NCI:C40172', 'UMLS_CUI:C1519847']",['DOID:13223']
7133,13956,uterine corpus myxoid leiomyoma,"""An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity."" [url:http\://www.pathologyoutlines.com/topic/uterusleiomyomamyxoid.html]",['NCIthesaurus'],"['NCI:C40166', 'UMLS_CUI:C1519860']",['DOID:13223']
7134,13957,uterine corpus lipoleiomyoma,"""An uterine fibroid that is characterized by the presence of adipocytes."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299967/]",['NCIthesaurus'],"['NCI:C40168', 'UMLS_CUI:C1519856']",['DOID:13223']
7135,13958,uterine corpus bizarre leiomyoma,"""An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells."" [url:http\://www.pathologyoutlines.com/topic/softtissuebizarreleiomyoma.html]",['NCIthesaurus'],"['NCI:C40167', 'UMLS_CUI:C1519853']",['DOID:0060095']
7141,1398,parasitic infectious disease,"""A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host."" [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4071]","['DO_AGR_slim', 'DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:H44.12', 'ICD9CM:360.13', 'NCI:C34587', 'SNOMEDCT_US_2022_09_01:57100005', 'UMLS_CUI:C0014238']",['DOID:0050117']
7143,13994,cleidocranial dysplasia,"""An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull."" [url:http\://en.wikipedia.org/wiki/Cleidocranial_dysostosis, url:http\://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia, url:http\://www.healthline.com/galecontent/cleidocranial-dysplasia-1, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001589.htm, url:https\://www.faces-cranio.org/cleidocranial]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6118', 'ICD10CM:Q74.0', 'MESH:D002973', 'NCI:C75020', 'OMIM:119600', 'OMIM:216330', 'ORDO:1452', 'SNOMEDCT_US_2022_09_01:65976001', 'UMLS_CUI:C0008928']",['DOID:2256']
7146,1400,lacrimal apparatus disease,"""An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26809]",['NCIthesaurus'],"['ICD10CM:H04', 'ICD9CM:375', 'MESH:D007766', 'NCI:C26809', 'SNOMEDCT_US_2022_09_01:267740009', 'UMLS_CUI:C0022904']",['DOID:5614']
7148,14004,thoracic aortic aneurysm,"""An aortic aneurysm that is located_in the thoracic aorta."" [url:http\://en.wikipedia.org/wiki/Aortic_aneurysm, url:http\://en.wikipedia.org/wiki/Thoracic_aortic_aneurysm]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0004282', 'MESH:D017545', 'NCI:C27001', 'OMIM:132900', 'OMIM:607086', 'OMIM:607087', 'OMIM:611788', 'OMIM:613780', 'OMIM:615436', 'ORDO:91387', 'SNOMEDCT_US_2022_09_01:155421001', 'UMLS_CUI:C0162872']",['DOID:3627']
7151,14019,Brucella canis brucellosis,"""A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly."" [url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/1172954]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A23.3', 'ICD9CM:023.3', 'SNOMEDCT_US_2022_09_01:428174001', 'UMLS_CUI:C0494040']",['DOID:11077']
7158,14039,POEMS syndrome,"""A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation."" [url:https\://rarediseases.info.nih.gov/diseases/7411/poems-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7411', 'MESH:D016878', 'NCI:C80303', 'SNOMEDCT_US_2022_09_01:79268002', 'UMLS_CUI:C0085404']",['DOID:620']
7160,14040,autoimmune polyendocrine syndrome,"""An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs."" [url:https\://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome]",['NCIthesaurus'],"['ICD10CM:E31.0', 'MESH:D016884', 'NCI:C84576', 'SNOMEDCT_US_2022_09_01:41864002', 'UMLS_CUI:C0085409']",['DOID:0060005']
7163,14049,phaeohyphomycosis,"""A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Curvularia hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals."" [url:http\://www.thelancet.com/journals/laninf/article/PIIS1473-3099%2809%2970131-8/abstract, url:https\://drfungus.org/knowledge-base/phaeohyphomycosis/, url:https\://www.adelaide.edu.au/mycology/mycoses/subcutaneous-mycoses#phaeohyphomycosis]","['DO_infectious_disease_slim', 'DO_rare_slim']","['GARD:12803', 'MESH:D060446']",['DOID:0050292']
7169,14067,Plasmodium falciparum malaria,"""A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=falciparum+malaria]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B50', 'ICD9CM:084.0', 'MESH:D016778', 'NCI:C34798', 'SNOMEDCT_US_2022_09_01:62676009', 'UMLS_CUI:C0024535']",['DOID:12365']
7170,14068,blackwater fever,"""A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax."" [url:http\://en.wikipedia.org/wiki/Blackwater_fever, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=blackwater%20fever]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD9CM:084.8', 'MESH:D001742', 'NCI:C34426', 'SNOMEDCT_US_2022_09_01:56625005', 'UMLS_CUI:C0005681']",['DOID:12365']
7171,14069,cerebral malaria,"""A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species."" [url:http\://en.wikipedia.org/wiki/Malaria]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B50.0', 'MESH:D016779', 'NCI:C128373', 'SNOMEDCT_US_2022_09_01:53622003', 'UMLS_CUI:C0024534']",['DOID:12365']
7177,14087,epicondylitis,"""A bone inflammation disease that results_in inflammation located_in epicondyle."" [url:http\://en.wikipedia.org/wiki/Epicondylitis]",['NCIthesaurus'],"['ICD10CM:M77.1', 'ICD9CM:726.32', 'MESH:D013716', 'NCI:C34589', 'NCI:C35067', 'SNOMEDCT_US_2022_09_01:156659008', 'SNOMEDCT_US_2022_09_01:268088003', 'UMLS_CUI:C0014488', 'UMLS_CUI:C0039516']",['DOID:3342']
7180,14095,boutonneuse fever,"""A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities."" [url:http\://en.wikipedia.org/wiki/Boutonneuse_fever, url:http\://www.cdc.gov/otherspottedfever/index.html]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'tick-borne_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A77.1', 'ICD9CM:082.1', 'MESH:D001907', 'SNOMEDCT_US_2022_09_01:186779000', 'UMLS_CUI:C0006060']",['DOID:11104']
7184,14110,anus cancer,"""A large intestine cancer that is located_in the anus."" [url:http\://en.wikipedia.org/wiki/Anus]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9300', 'ICD10CM:C21.0', 'ICD10CM:C21.1', 'ICD9CM:154.2', 'ICD9CM:154.3', 'NCI:C7379', 'SNOMEDCT_US_2022_09_01:93669004', 'SNOMEDCT_US_2022_09_01:93676009', 'UMLS_CUI:C0153445', 'UMLS_CUI:C0153446']",['DOID:5672']
7186,14115,toxic shock syndrome,"""A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus , which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities."" [url:http\://en.wikipedia.org/wiki/Toxic_shock_syndrome]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['ICD10CM:A48.3', 'ICD9CM:040.82', 'MESH:D012772', 'NCI:C35498', 'SNOMEDCT_US_2022_09_01:18504008', 'UMLS_CUI:C0600327']",['DOID:0050339']
7188,14118,familial lipoprotein lipase deficiency,"""A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides."" [url:https\://pubmed.ncbi.nlm.nih.gov/35415234/, url:https\://rarediseases.org/rare-diseases/familial-lipoprotein-lipase-deficiency/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:12241', 'ICD10CM:E78.3', 'ICD9CM:272.3', 'MESH:D008072', 'NCI:C84771', 'OMIM:238600', 'ORDO:309015', 'SNOMEDCT_US_2022_09_01:34171006', 'UMLS_CUI:C0023817']",['DOID:0111417']
7199,14146,ureterolithiasis,"""An ureteral disease this is characterized by the formation of stoney concentrations in the ureter."" [url:https\://www.jucm.com/ureterolithiasis-leaving-stone-unturned/, url:https\://www.ncbi.nlm.nih.gov/pubmed/28513524]",['NCIthesaurus'],"['ICD10CM:N20.1', 'ICD9CM:592.1', 'MESH:D053039', 'NCI:C114696', 'SNOMEDCT_US_2022_09_01:31054009', 'UMLS_CUI:C0041952']",['DOID:1426']
7201,14150,spinal cord lymphoma,"""A spinal cancer that is located_in the spinal cord and derives_from lymphocytes."" [url:http\://www.virtualmedicalcentre.com/diseases.asp?did=583]",['NCIthesaurus'],"['NCI:C5157', 'UMLS_CUI:C1336044']",['DOID:5612']
7207,1417,choroid disease,"""An uveal disease that is located_in the choroid."" [url:https\://www.vagelos.columbia.edu/departments-centers/ophthalmology/education/digital-reference-ophthalmology/vitreous-and-retina/retina-choroid-disorders]",['NCIthesaurus'],"['ICD10CM:H31.9', 'ICD9CM:363.9', 'MESH:D015862', 'NCI:C34468', 'SNOMEDCT_US_2022_09_01:193480005', 'UMLS_CUI:C0008521']",['DOID:3480']
7211,14176,selective IgG deficiency disease,"""A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26846287]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10371', 'ICD10CM:D80.3', 'MESH:D017099', 'NCI:C27142', 'SNOMEDCT_US_2022_09_01:190981001', 'UMLS_CUI:C0162539']",['DOID:11702']
7213,14179,X-linked agammaglobulinemia,"""An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement."" [url:http\://en.wikipedia.org/wiki/X-linked_agammaglobulinemia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001307.htm]","['DO_rare_slim', 'NCIthesaurus']","['MESH:C537409', 'NCI:C3822', 'OMIM:300755', 'ORDO:47', 'SNOMEDCT_US_2022_09_01:65880007', 'UMLS_CUI:C0221026']",['DOID:2583']
7222,14213,hypophosphatasia,"""A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in ALPL on chromosome 1p36.12."" [url:https\://ghr.nlm.nih.gov/condition/hypophosphatasia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6734', 'ICD10CM:E83.39', 'MESH:C562440', 'MESH:D007014', 'NCI:C26798', 'ORDO:436', 'SNOMEDCT_US_2022_09_01:30174008', 'SNOMEDCT_US_2022_09_01:70848009', 'UMLS_CUI:C0020630', 'UMLS_CUI:C0220743']",['DOID:225']
7223,14218,dihydropyrimidine dehydrogenase deficiency,"""A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine."" [url:http\://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency]","['DO_rare_slim', 'NCIthesaurus']","['GARD:19', 'MESH:D054067', 'NCI:C84672', 'OMIM:274270', 'SNOMEDCT_US_2022_09_01:238016000', 'UMLS_CUI:C1959620', 'UMLS_CUI:C3495551']",['DOID:653']
7224,14219,renal tubular acidosis,"""A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine."" [url:http\://en.wikipedia.org/wiki/Renal_tubular_acidosis, url:http\://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/renal_tubular_acidosis_rta.html]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7552', 'ICD10CM:N25.89', 'MESH:D000141', 'NCI:C28129', 'OMIM:179830', 'OMIM:267200', 'OMIM:602722', 'SNOMEDCT_US_2022_09_01:1776003', 'UMLS_CUI:C0001126']",['DOID:447']
7225,14221,abdominal obesity-metabolic syndrome 1,"""An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events."" [url:https\://en.wikipedia.org/wiki/Metabolic_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0000195', 'GARD:9226', 'ICD10CM:E88.81', 'ICD9CM:277.7', 'MESH:D024821', 'NCI:C84442', 'OMIM:605552', 'SNOMEDCT_US_2022_09_01:190394009', 'UMLS_CUI:C0524620']",['DOID:0060611']
7226,14223,ochronosis,"""A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions."" [url:https\://en.wikipedia.org/wiki/Ochronosis, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681189/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7231', 'ICD10CM:E70.29', 'MESH:D009794', 'NCI:C84938', 'SNOMEDCT_US_2022_09_01:21924005', 'UMLS_CUI:C0028817']",['DOID:65']
7229,14227,azoospermia,"""A male infertility disease characterized by the absence of any measurable level of sperm in semen."" [url:http\://en.wikipedia.org/wiki/Azoospermia, url:http\://ghr.nlm.nih.gov/glossary=azoospermia]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['EFO:0000279', 'ICD10CM:N46.0', 'ICD9CM:606.0', 'MESH:D053713', 'NCI:C80076', 'ORDO:217034', 'SNOMEDCT_US_2022_09_01:145008007', 'UMLS_CUI:C0004509']",['DOID:12336']
7230,14228,oligospermia,"""A male fertility issue defined as a low sperm concentration in the ejaculate."" [url:https\://en.wikipedia.org/wiki/Oligospermia]",['NCIthesaurus'],"['ICD10CM:N46.1', 'ICD9CM:606.1', 'MESH:D009845', 'NCI:C34860', 'UMLS_CUI:C0028960']",['DOID:12336']
7233,14239,gastrointestinal tularemia,"""A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting."" [url:https\://www.cdc.gov/tularemia/index.html]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'tick-borne_infectious_disease', 'zoonotic_infectious_disease']","['ICD9CM:021.1', 'ICD9CM:021.8', 'SNOMEDCT_US_2022_09_01:186292001', 'SNOMEDCT_US_2022_09_01:186298002', 'UMLS_CUI:C0029835', 'UMLS_CUI:C0152942']",['DOID:2123']
7237,14247,chronic purulent otitis media,"""A suppurative otitis media which is persistent and long-lasting."" [url:http\://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false]",['NCIthesaurus'],"['ICD10CM:H66.3', 'ICD9CM:382.3', 'NCI:C128386', 'SNOMEDCT_US_2022_09_01:38394007', 'UMLS_CUI:C0271454']",['DOID:11506']
7240,14250,Down syndrome,"""A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability."" [url:http\://en.wikipedia.org/wiki/Down_syndrome, url:http\://ghr.nlm.nih.gov/condition/down-syndrome, url:http\://www.nichd.nih.gov/health/topics/down/Pages/default.aspx, url:http\://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:10247', 'ICD10CM:Q90', 'ICD9CM:758.0', 'MESH:D004314', 'NCI:C2993', 'OMIM:190685', 'ORDO:870', 'SNOMEDCT_US_2022_09_01:41040004', 'UMLS_CUI:C0013080']",['DOID:0080014']
7244,14256,adult-onset Still's disease,"""A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain."" [url:http\://en.wikipedia.org/wiki/Adult-onset_Still%27s_disease, url:http\://www.mayoclinic.com/health/adult-stills-disease/DS00792, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000450.htm, url:http\://www.thedoctorwillseeyounow.com/content/arthritis/art1928.html, url:https\://www.aiarthritis.org/stillsdisease]",['DO_rare_slim'],"['GARD:436', 'ICD10CM:M06.1', 'MESH:D016706', 'SNOMEDCT_US_2022_09_01:239920006', 'UMLS_CUI:C0085253']",['DOID:7148']
7245,1426,ureteral disease,"""A urinary system disease that is located_in the ureter."" [url:http\://www.nlm.nih.gov/medlineplus/ureteraldisorders.html]",['NCIthesaurus'],"['MESH:D014515', 'UMLS_CUI:C0041954']",['DOID:18']
7246,14261,fragile X syndrome,"""A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function."" [url:http\://en.wikipedia.org/wiki/Fragile_X_syndrome, url:http\://omim.org/entry/300624, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6464', 'ICD10CM:Q99.2', 'ICD9CM:759.83', 'MESH:D005600', 'NCI:C84717', 'OMIM:300624', 'ORDO:908', 'SNOMEDCT_US_2022_09_01:390007001', 'UMLS_CUI:C0016667']",['DOID:225']
7247,14262,oral candidiasis,"""A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes."" [url:http\://en.wikipedia.org/wiki/Oral_candidiasis]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B37.9', 'ICD9CM:112.0', 'MESH:D002180', 'NCI:C28137', 'SNOMEDCT_US_2022_09_01:187006006', 'UMLS_CUI:C0006849']",['DOID:1508']
7248,14264,benign neonatal seizures,"""A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion."" [url:http\://en.wikipedia.org/wiki/Benign_familial_neonatal_epilepsy, url:http\://www.ncbi.nlm.nih.gov/books/NBK32534/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140927]","['DO_rare_slim', 'NCIthesaurus']","['MESH:D020936', 'NCI:C84593', 'OMIM:121200', 'OMIM:121201', 'OMIM:269720', 'ORDO:1949', 'SNOMEDCT_US_2022_09_01:38281008', 'UMLS_CUI:C0270851']",['DOID:0050702']
7249,14265,pulmonary valve insufficiency,"""A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur."" [url:http\://en.wikipedia.org/wiki/pulmonary_insufficiency]",['NCIthesaurus'],"['MESH:D011665', 'NCI:C62436', 'SNOMEDCT_US_2022_09_01:91434003', 'UMLS_CUI:C0034088']",['DOID:5749']
7262,14289,Ebstein anomaly,"""A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart."" [url:http\://en.wikipedia.org/wiki/Ebstein_anomaly]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6313', 'ICD10CM:Q22.5', 'ICD9CM:746.2', 'MESH:D004437', 'NCI:C84681', 'OMIM:224700', 'SNOMEDCT_US_2022_09_01:1796006', 'UMLS_CUI:C0013481']",['DOID:0050826']
7263,14291,Noonan syndrome with multiple lentigines,"""A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest  and short stature."" [url:https\://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance, url:https\://rarediseases.info.nih.gov/diseases/1100/leopard-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1100', 'MESH:D044542', 'NCI:C84820', 'OMIM:PS151100', 'ORDO:500', 'SNOMEDCT_US_2022_09_01:111306001', 'UMLS_CUI:C0175704']",['DOID:0080690']
7264,14292,vulvar dystrophy,"""A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1449423]",['NCIthesaurus'],"['ICD10CM:N90.4', 'ICD9CM:624.0', 'NCI:C34565', 'SNOMEDCT_US_2022_09_01:198378001', 'UMLS_CUI:C0013426']",['DOID:2059']
7265,14305,tuberculous empyema,"""A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula."" [url:http\://erj.ersjournals.com/cgi/reprint/10/4/942, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=empyema]",['NCIthesaurus'],"['MESH:D004654', 'NCI:C34575', 'SNOMEDCT_US_2022_09_01:186184002', 'UMLS_CUI:C0014014']",['DOID:3798']
7268,1432,blindness,"""An eye disease characterized by a lack or loss of vision."" [url:https\://en.wikipedia.org/wiki/Visual_impairment, url:https\://nei.nih.gov/eyedata/blind, url:https\://www.cdc.gov/healthcommunication/toolstemplates/entertainmented/tips/Blindness.html]",['DO_FlyBase_slim'],"['ICD10CM:H54', 'ICD9CM:369', 'SNOMEDCT_US_2022_09_01:193698004', 'UMLS_CUI:C0155020']",['DOID:5614']
7269,14320,generalized anxiety disorder,"""An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation."" [url:http\://en.wikipedia.org/wiki/Anxiety_disorder]",['NCIthesaurus'],"['ICD10CM:F41.1', 'ICD9CM:300.02', 'NCI:C92622', 'SNOMEDCT_US_2022_09_01:192401002', 'UMLS_CUI:C0270549']",['DOID:2030']
7270,14323,Marfan syndrome,"""A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens."" [url:https\://ghr.nlm.nih.gov/condition/marfan-syndrome#inheritance, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34807, url:https\://rarediseases.org/rare-diseases/marfan-syndrome/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6975', 'ICD10CM:Q87.4', 'ICD9CM:759.82', 'MESH:D008382', 'NCI:C34807', 'OMIM:154700', 'SNOMEDCT_US_2022_09_01:19346006', 'UMLS_CUI:C0024796']",['DOID:65']
7271,14324,Plasmodium malariae malaria,"""A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malariae%20malaria]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B52', 'ICD9CM:084.2', 'NCI:C34799', 'SNOMEDCT_US_2022_09_01:27618009', 'UMLS_CUI:C0024536']",['DOID:12365']
7272,14325,mixed malaria,"""A malaria that involves infection with more than one species of Plasmodium at the same time."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15105024]",['DO_infectious_disease_slim'],"['ICD9CM:084.5', 'SNOMEDCT_US_2022_09_01:21070001', 'UMLS_CUI:C0153121']",['DOID:12365']
7273,14330,Parkinson's disease,"""A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions."" [url:http\://en.wikipedia.org/wiki/Parkinson%27s_disease, url:https\://pubmed.ncbi.nlm.nih.gov/26474316/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877503/]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['EFO:0002508', 'GARD:10251', 'ICD10CM:G20', 'ICD9CM:332', 'KEGG:05012', 'MESH:D010300', 'NCI:C26845', 'OMIM:PS168600', 'ORDO:2828', 'SNOMEDCT_US_2022_09_01:49049000', 'UMLS_CUI:C0030567']",['DOID:0050890']
7275,14336,estrogen excess,"""An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen."" [url:https\://www.icd10data.com/ICD10CM/Codes/E00-E89/E20-E35/E28-/E28.0]",['NCIthesaurus'],"['ICD10CM:E28.0', 'ICD9CM:256.0', 'NCI:C113344', 'SNOMEDCT_US_2022_09_01:190533004', 'UMLS_CUI:C0154209']",['DOID:1414']
7280,14365,systemic primary carnitine deficiency disease,"""An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy."" [url:http\://en.wikipedia.org/wiki/Carnitine_deficiency]",['NCIthesaurus'],"['ICD10CM:E71.41', 'ICD9CM:277.81', 'MESH:C536778', 'NCI:C98864', 'OMIM:212140', 'SNOMEDCT_US_2022_09_01:21764004', 'UMLS_CUI:C0342788']",['DOID:9252']
7281,14374,norwegian scabies,"""A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching."" [url:http\://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm]","['DO_infectious_disease_slim', 'NCIthesaurus']","['NCI:C34855', 'SNOMEDCT_US_2022_09_01:128870005', 'UMLS_CUI:C0028425']",['DOID:8295']
7282,14384,parietal lobe neoplasm,"""A cerebrum cancer that is located_in the parietal lobe."" [url:http\://en.wikipedia.org/wiki/Parietal_lobe]",['NCIthesaurus'],"['ICD10CM:C71.3', 'ICD9CM:191.3', 'NCI:C5573', 'SNOMEDCT_US_2022_09_01:126956001', 'SNOMEDCT_US_2022_09_01:93946000', 'UMLS_CUI:C0153637', 'UMLS_CUI:C1263888']",['DOID:368']
7286,1440,Machado-Joseph disease,"""An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene."" [url:http\://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease, url:http\://omim.org/entry/109150, url:http\://rarediseases.org/rare-disease-information/rare-diseases/byID/110/viewAbstract]","['DO_FlyBase_slim', 'NCIthesaurus']","['MESH:D017827', 'NCI:C84830', 'OMIM:109150', 'SNOMEDCT_US_2022_09_01:91952008', 'UMLS_CUI:C0024408']",['DOID:1441']
7287,14400,capillary leak syndrome,"""A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5481509/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1084', 'MESH:D019559', 'NCI:C62578', 'ORDO:188', 'SNOMEDCT_US_2022_09_01:87730004', 'UMLS_CUI:C0343084']",['DOID:1271']
7289,1441,autosomal dominant cerebellar ataxia,"""A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance."" [url:http\://www.ncbi.nlm.nih.gov/books/NBK1138/, url:http\://www.ncbi.nlm.nih.gov/books/NBK22234/]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['MESH:D020754', 'NCI:C82341', 'OMIM:PS164400', 'ORDO:94', 'SNOMEDCT_US_2022_09_01:129609000', 'UMLS_CUI:C0087012']",['DOID:0050753']
7291,14415,Legg-Calve-Perthes disease,"""An osteochondrosis that results_in death and fracture located_in hip joint."" [url:http\://en.wikipedia.org/wiki/Legg%E2%80%93Calv%C3%A9%E2%80%93Perthes_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6874', 'ICD10CM:M91.2', 'MESH:D007873', 'NCI:C34766', 'OMIM:150600', 'SNOMEDCT_US_2022_09_01:15739006', 'SNOMEDCT_US_2022_09_01:270545000', 'UMLS_CUI:C0022441', 'UMLS_CUI:C0023234']",['DOID:8125']
7292,14418,dracunculiasis,"""A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection."" [url:http\://en.wikipedia.org/wiki/Dracunculiasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Dracunculiasis.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6286', 'ICD10CM:B72', 'ICD9CM:125.7', 'MESH:D004320', 'NCI:C84677', 'SNOMEDCT_US_2022_09_01:48874008', 'UMLS_CUI:C0013100']",['DOID:883']
7293,14422,dipetalonemiasis,"""A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis."" [url:http\://books.google.com/books?id=OBZbR4vpg0YC&pg=PA158&lpg#v=onepage&q&f=false]","['DO_infectious_disease_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['ICD9CM:125.4', 'MESH:D004154', 'NCI:C34540', 'SNOMEDCT_US_2022_09_01:15629006', 'UMLS_CUI:C0012517']",['DOID:1080']
7296,1443,cerebral degeneration,"""A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue."" [url:https\://en.wikipedia.org/wiki/Neurodegeneration]","['DO_RAD_slim', 'DO_rare_slim']","['GARD:6019', 'ICD9CM:331.9', 'SNOMEDCT_US_2022_09_01:52522001', 'UMLS_CUI:C0154671']",['DOID:936']
7301,14447,gonadal dysgenesis,"""A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo."" [url:http\://en.wikipedia.org/wiki/Gonadal_dysgenesis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2538', 'ICD9CM:758.6', 'MESH:D006059', 'NCI:C61420', 'SNOMEDCT_US_2022_09_01:268356004', 'UMLS_CUI:C0018051']",['DOID:1923']
7302,14448,"46,XY sex reversal","""A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo."" [url:http\://en.wikipedia.org/wiki/XY_gonadal_dysgenesis, url:https\://ghr.nlm.nih.gov/condition/swyer-syndrome#synonyms]",['NCIthesaurus'],"['MESH:D006061', 'NCI:C120198', 'OMIM:607080', 'OMIM:PS400044', 'UMLS_CUI:C0018054']",['DOID:14447']
7303,14449,mixed gonadal dysgenesis,"""A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis."" [url:https\://www.pathologyoutlines.com/topic/ovarynontumormixedgonadaldysgenesis.html]",['NCIthesaurus'],"['MESH:D006060', 'NCI:C120199', 'SNOMEDCT_US_2022_09_01:205682006', 'UMLS_CUI:C0018055']",['DOID:14447']
7304,14450,46 XX gonadal dysgenesis,"""A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female."" [url:http\://en.wikipedia.org/wiki/XX_gonadal_dysgenesis, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=243]","['DO_rare_slim', 'NCIthesaurus']","['MESH:D023961', 'NCI:C120197', 'OMIM:PS233300', 'ORDO:243', 'UMLS_CUI:C0949595']",['DOID:14447']
7307,14453,farmer's lung,"""An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness."" [url:http\://www.merck.com/media/mmpe/pdf/Table_055-5.pdf, url:http\://www.merriam-webster.com/dictionary/farmer%27s%20lung]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6427', 'ICD10CM:J67.0', 'ICD9CM:495.0', 'MESH:D005203', 'NCI:C34605', 'SNOMEDCT_US_2022_09_01:155581001', 'UMLS_CUI:C0015634']",['DOID:841']
7308,14456,Brucella melitensis brucellosis,"""A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain."" [url:http\://www.bmj.com/cgi/reprint/1/5644/612.pdf]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A23.0', 'ICD9CM:023.0', 'SNOMEDCT_US_2022_09_01:186305007', 'UMLS_CUI:C0302362']",['DOID:11077']
7309,14457,Brucella abortus brucellosis,"""A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia."" [url:http\://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/10790142]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A23.1', 'ICD9CM:023.1', 'MESH:D002007', 'SNOMEDCT_US_2022_09_01:427795000', 'UMLS_CUI:C0302363']",['DOID:11077']
7312,14464,neuroleptic malignant syndrome,"""A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers."" [url:http\://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12561]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7195', 'ICD10CM:G21.0', 'ICD9CM:333.92', 'MESH:D009459', 'NCI:C94829', 'ORDO:94093', 'SNOMEDCT_US_2022_09_01:15244003', 'UMLS_CUI:C0027849']",['DOID:863']
7313,14472,hantavirus pulmonary syndrome,"""A viral infectious disease that results in infection located in lung, has_material_basis_in Sin Nombre virus, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Black Creek Canal orthohantavirus, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Bayou virus, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Laguna Negra virus, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Andes virus, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications."" [url:http\://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false, url:http\://www.cdc.gov/ncidod/diseases/hanta/hps/noframes/generalinfoindex.htm, url:http\://www.ncbi.nlm.nih.gov/sites/entrez/10742726, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hantavirus%20pulmonary%20syndrome]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:69', 'MESH:D018804', 'NCI:C84747', 'SNOMEDCT_US_2022_09_01:120639003', 'UMLS_CUI:C0243025']",['DOID:934']
7314,14482,pemphigoid gestationis,"""A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3062810/]",['NCIthesaurus'],"['ICD10CM:O26.4', 'MESH:D006559', 'NCI:C85003', 'SNOMEDCT_US_2022_09_01:86081009', 'UMLS_CUI:C0019343']",['DOID:0080841']
7316,14484,sporotrichosis,"""A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation."" [url:https\://www.health.ny.gov/diseases/communicable/sporotrichosis/fact_sheet.htm]","['DO_infectious_disease_slim', 'DO_rare_slim']","['GARD:7692', 'ICD10CM:B42', 'ICD9CM:117.1', 'MESH:D013174', 'SNOMEDCT_US_2022_09_01:266218008', 'UMLS_CUI:C0038034']",['DOID:0050292']
7322,14499,Fabry disease,"""A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22."" [url:https\://ghr.nlm.nih.gov/condition/fabry-disease]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6400', 'ICD10CM:E75.21', 'MESH:D000795', 'NCI:C84701', 'OMIM:301500', 'SNOMEDCT_US_2022_09_01:16652001', 'UMLS_CUI:C0002986']",['DOID:1927']
7324,14501,Sjogren-Larsson syndrome,"""A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11."" [url:https\://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome, url:https\://www.omim.org/entry/270200]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7654', 'MESH:D016111', 'NCI:C85070', 'OMIM:270200', 'ORDO:816', 'SNOMEDCT_US_2022_09_01:111303009', 'UMLS_CUI:C0037231']",['DOID:225']
7327,14504,Niemann-Pick disease,"""A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells."" [url:https\://en.wikipedia.org/wiki/Niemann-Pick_disease, url:https\://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:13334', 'ICD10CM:E75.24', 'MESH:D009542', 'NCI:C61269', 'SNOMEDCT_US_2022_09_01:58459009', 'UMLS_CUI:C0028064']",['DOID:1927']
7329,14512,candidal paronychia,"""A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884921/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323378/]",['DO_infectious_disease_slim'],"['ICD10CM:B37.2', 'ICD9CM:112.3', 'SNOMEDCT_US_2022_09_01:187014000', 'UMLS_CUI:C0006842']",['DOID:1508']
7330,14515,WAGR syndrome,"""A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes."" [url:http\://en.wikipedia.org/wiki/WAGR_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5528', 'MESH:D017624', 'NCI:C3718', 'OMIM:194072', 'SNOMEDCT_US_2022_09_01:715215007', 'UMLS_CUI:C0206115']",['DOID:0060388']
7334,14525,Reye syndrome,"""A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use."" [url:https\://en.wikipedia.org/wiki/Reye_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/2680560]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7570', 'ICD10CM:G93.7', 'ICD9CM:331.81', 'MESH:D012202', 'NCI:C34983', 'SNOMEDCT_US_2022_09_01:74351001', 'UMLS_CUI:C0035400']",['DOID:225']
7339,14544,rete testis adenocarcinoma,"""A rete testis neoplasm that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C8955', 'UMLS_CUI:C0863024']",['DOID:5639']
7340,14545,seminal vesicle adenocarcinoma,"""A male reproductive organ cancer that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C39906', 'UMLS_CUI:C1519233']",['DOID:3856']
7342,14547,sphenoid sinus squamous cell carcinoma,"""A squamous cell carcinoma that is located_in the sphenoid sinus."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25748513]",['NCIthesaurus'],"['NCI:C6066', 'UMLS_CUI:C1336039']",['DOID:14546']
7344,1455,geographic tongue,"""An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface."" [url:http\://en.wikipedia.org/wiki/Geographic_tongue]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6493', 'ICD10CM:K14.1', 'ICD9CM:529.1', 'MESH:D005929', 'NCI:C84588', 'OMIM:137400', 'SNOMEDCT_US_2022_09_01:59032001', 'UMLS_CUI:C0017677']",['DOID:1453']
7347,14557,primary pulmonary hypertension,"""A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling."" [url:http\://en.wikipedia.org/wiki/Pulmonary_hypertension, url:http\://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:I27.0', 'ICD9CM:416.0', 'OMIM:178600', 'OMIM:265400', 'OMIM:615342', 'OMIM:615343', 'OMIM:615344', 'ORDO:422', 'SNOMEDCT_US_2022_09_01:26174007', 'UMLS_CUI:C0152171']",['DOID:12326']
7352,1459,hypothyroidism,"""A thyroid gland disease which involves an underproduction of thyroid hormone."" [url:https\://medlineplus.gov/hypothyroidism.html]",['NCIthesaurus'],"['EFO:0004705', 'ICD10CM:E03.9', 'ICD9CM:244.9', 'MESH:D007037', 'NCI:C26800', 'SNOMEDCT_US_2022_09_01:267465007', 'UMLS_CUI:C0020676']",['DOID:50']
7357,14669,acrodysostosis,"""A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency."" [url:http\://children.webmd.com/acrodysostosis, url:http\://en.wikipedia.org/wiki/Acrodysostosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001248.htm]",['DO_rare_slim'],"['GARD:2015', 'GARD:5724', 'MESH:C538179', 'OMIM:101800', 'OMIM:614613', 'ORDO:950', 'SNOMEDCT_US_2022_09_01:66758006', 'UMLS_CUI:C0220659']",['DOID:1934']
7359,14670,"hypertelorism, microtia, facial clefting syndrome","""A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia."" [url:http\://rarediseases.info.nih.gov/gard/897/bixler-christian-gorlin-syndrome/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213, url:https\://www.ncbi.nlm.nih.gov/pubmed/11152141]",['DO_rare_slim'],"['MESH:C537632', 'OMIM:239800', 'ORDO:2213', 'SNOMEDCT_US_2022_09_01:721836009', 'UMLS_CUI:C0220742']",['DOID:225']
7360,14671,multiple intestinal atresia,"""An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in TTC7A on chromosome 2p21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23423984]",['DO_rare_slim'],"['GARD:3013', 'MEDDRA:10028210', 'MESH:C562441', 'OMIM:243150', 'ORDO:2300', 'SNOMEDCT_US_2022_09_01:95472001', 'UMLS_CUI:C0220744']",['DOID:5295']
7361,14679,VACTERL association,"""A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities."" [url:http\://en.wikipedia.org/wiki/VACTERL_association, url:http\://ghr.nlm.nih.gov/condition/vacterl-association, url:http\://www.cincinnatichildrens.org/health/v/vacterl/]",['DO_rare_slim'],"['GARD:5443', 'ICD10CM:Q87.2', 'MESH:C536534', 'OMIM:192350', 'OMIM:276950', 'SNOMEDCT_US_2022_09_01:205830006', 'UMLS_CUI:C0220708']",['DOID:225']
7363,14681,Silver-Russell syndrome,"""A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations."" [url:https\://ghr.nlm.nih.gov/condition/russell-silver-syndrome, url:https\://rarediseases.org/rare-diseases/russell-silver-syndrome/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4870', 'ICD10CM:Q87.19', 'MESH:D056730', 'NCI:C85068', 'OMIM:180860', 'SNOMEDCT_US_2022_09_01:15069006', 'UMLS_CUI:C0175693']",['DOID:0080015']
7365,14686,Axenfeld-Rieger syndrome,"""An eye disease characterized by abnormalities of the front part of the eye, the anterior segment."" [url:http\://en.wikipedia.org/wiki/Axenfeld_syndrome, url:http\://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5701', 'ICD10CM:Q13.81', 'MESH:C535679', 'NCI:C131001', 'ORDO:782', 'SNOMEDCT_US_2022_09_01:47507006', 'UMLS_CUI:C0265341']",['DOID:5614']
7366,14687,diastrophic dysplasia,"""An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism."" [url:http\://en.wikipedia.org/wiki/Diastrophic_dysplasia, url:http\://ghr.nlm.nih.gov/condition/diastrophic-dysplasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK22219/]",['DO_rare_slim'],"['GARD:6275', 'ICD10CM:Q77.5', 'MESH:C536170', 'NCI:C156311', 'OMIM:222600', 'SNOMEDCT_US_2022_09_01:58561002', 'UMLS_CUI:C0220726']",['DOID:2256']
7368,14693,Clouston syndrome,"""An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12."" [url:https\://pubmed.ncbi.nlm.nih.gov/8845850/]",['DO_rare_slim'],"['GARD:2056', 'MESH:D004476', 'OMIM:129500', 'SNOMEDCT_US_2022_09_01:54209007', 'UMLS_CUI:C0162361']",['DOID:2121']
7369,14694,Johanson-Blizzard syndrome,"""A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner."" [url:http\://en.wikipedia.org/wiki/Johanson-Blizzard_syndrome]",['DO_rare_slim'],"['GARD:80', 'MESH:C535880', 'OMIM:243800', 'ORDO:2315', 'SNOMEDCT_US_2022_09_01:75979009', 'UMLS_CUI:C0175692']",['DOID:225']
7370,14695,galactokinase deficiency,"""A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase."" [url:http\://en.wikipedia.org/wiki/Galactokinase_deficiency]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2422', 'ICD10CM:E74.29', 'MESH:D005693', 'NCI:C114767', 'OMIM:230200', 'SNOMEDCT_US_2022_09_01:124302001', 'UMLS_CUI:C0268155']",['DOID:9870']
7371,14699,thrombocytopenia-absent radius syndrome,"""A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other."" [url:https\://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK23758/]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:Q87.2', 'MESH:C536940', 'NCI:C99038', 'OMIM:274000', 'ORDO:3320', 'SNOMEDCT_US_2022_09_01:85589009', 'UMLS_CUI:C0175703']",['DOID:0060388']
7372,1470,major depressive disorder,"""A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality."" [url:http\://en.wikipedia.org/wiki/Major_depressive_disorder]",['NCIthesaurus'],"['EFO:0003761', 'ICD10CM:F32', 'ICD10CM:F33.9', 'ICD9CM:296.2', 'ICD9CM:296.3', 'NCI:C34796', 'OMIM:608520', 'OMIM:608691', 'SNOMEDCT_US_2022_09_01:268621008', 'SNOMEDCT_US_2022_09_01:36923009', 'UMLS_CUI:C0024517', 'UMLS_CUI:C0154409']",['DOID:1596']
7373,14701,propionic acidemia,"""An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy."" [url:http\://en.wikipedia.org/wiki/Propionic_acidemia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:467', 'ICD10CM:E71.121', 'MESH:D056693', 'NCI:C85030', 'OMIM:606054', 'SNOMEDCT_US_2022_09_01:69080001', 'UMLS_CUI:C0268579', 'UMLS_CUI:C2717876']",['DOID:0060159']
7374,14702,branchiootorenal syndrome,"""A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/263442]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:10147', 'MEDDRA:10071135', 'MESH:D019280', 'NCI:C98983', 'SNOMEDCT_US_2022_09_01:290006', 'UMLS_CUI:C0265234']",['DOID:225']
7375,14705,Pfeiffer syndrome,"""An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull."" [url:http\://en.wikipedia.org/wiki/Pfeiffer_syndrome, url:http\://ghr.nlm.nih.gov/condition/pfeiffer-syndrome, url:http\://www.healthline.com/galecontent/pfeiffer-syndrome, url:https\://www.faces-cranio.org/pfeiffer]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7380', 'MESH:D000168', 'NCI:C99100', 'OMIM:101600', 'ORDO:710', 'SNOMEDCT_US_2022_09_01:70410008', 'UMLS_CUI:C0220658']",['DOID:12960']
7376,14711,FG syndrome,"""A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern."" [url:http\://en.wikipedia.org/wiki/FG_syndrome, url:http\://ghr.nlm.nih.gov/condition/fg-syndrome, url:http\://rarediseases.info.nih.gov/gard/2317/fg-syndrome/resources/1]",['DO_rare_slim'],"['GARD:2317', 'MESH:C537923', 'OMIM:300321', 'OMIM:300406', 'OMIM:300422', 'OMIM:300581', 'OMIM:305450', 'ORDO:323', 'ORDO:93932', 'SNOMEDCT_US_2022_09_01:49984004', 'UMLS_CUI:C0220769']",['DOID:225']
7377,14717,centronuclear myopathy,"""A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery."" [url:http\://en.wikipedia.org/wiki/Centronuclear_myopathy, url:http\://ghr.nlm.nih.gov/condition/centronuclear-myopathy]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:101', 'ICD10CM:G71.22', 'MESH:D020914', 'NCI:C84648', 'ORDO:595', 'ORDO:596', 'ORDO:69186', 'ORDO:69189', 'SNOMEDCT_US_2022_09_01:193223007', 'UMLS_CUI:C0175709']",['DOID:422']
7378,14720,Ehlers-Danlos syndrome classic type 1,"""An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34."" [url:https\://pubmed.ncbi.nlm.nih.gov/28306229/]",['NCIthesaurus'],"['MESH:C536194', 'NCI:C125696', 'OMIM:130000', 'SNOMEDCT_US_2022_09_01:83470009', 'UMLS_CUI:C0268335']",['DOID:13359']
7379,14723,beta-ketothiolase deficiency,"""An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones."" [url:https\://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency#statistics]",['DO_rare_slim'],"['GARD:872', 'MESH:C535818', 'OMIM:203750', 'ORDO:134', 'SNOMEDCT_US_2022_09_01:238067002', 'UMLS_CUI:C1533628']",['DOID:9252']
7381,14731,Weaver syndrome,"""A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36."" [url:https\://ghr.nlm.nih.gov/condition/weaver-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/30793471]",['DO_rare_slim'],"['GARD:5545', 'GARD:7878', 'MESH:C562443', 'OMIM:277590', 'UMLS_CUI:C0220765']",['DOID:225']
7382,14735,hereditary angioedema,"""An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes."" [url:https\://medlineplus.gov/genetics/condition/hereditary-angioedema/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5979', 'MESH:D054179', 'NCI:C84758', 'SNOMEDCT_US_2022_09_01:82966003', 'UMLS_CUI:C0019243']",['DOID:1558']
7383,14737,craniofrontonasal syndrome,"""A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton."" [url:https\://www.omim.org/entry/304110, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1520]",['DO_rare_slim'],"['GARD:1578', 'MESH:C536456', 'OMIM:304110', 'ORDO:1520', 'SNOMEDCT_US_2022_09_01:715421009', 'UMLS_CUI:C0220767']",['DOID:225']
7385,14743,trichorhinophalangeal syndrome type I,"""A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly)."" [url:http\://rarediseases.info.nih.gov/gard/7802/trichorhinophalangeal-syndrome-type-3/resources/1, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77258, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/732/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['MESH:C536820', 'NCI:C75109', 'OMIM:190350', 'ORDO:77258', 'SNOMEDCT_US_2022_09_01:239016009', 'UMLS_CUI:C0432233']",['DOID:225']
7386,14744,Partington syndrome,"""A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria."" [url:http\://ghr.nlm.nih.gov/condition/partington-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/23622180]",['DO_rare_slim'],"['GARD:4235', 'MESH:C562446', 'OMIM:309510', 'ORDO:94083', 'UMLS_CUI:C0220775']",['DOID:0060309']
7387,14748,Sotos syndrome,"""A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life."" [url:http\://en.wikipedia.org/wiki/Cerebral_gigantism]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10091', 'ICD10CM:Q87.3', 'MESH:D058495', 'NCI:C75019', 'OMIM:PS117550', 'ORDO:821', 'SNOMEDCT_US_2022_09_01:75968004', 'UMLS_CUI:C0175695']",['DOID:225']
7388,14749,methylmalonic acidemia,"""An organic acidemia that involves an accumulation of methylmalonic acid in the blood."" [url:http\://ghr.nlm.nih.gov/condition/methylmalonic-acidemia]",['DO_rare_slim'],"['GARD:7033', 'MESH:C537358']",['DOID:0060159']
7389,1475,lymphangioma,"""A benign vascular tumor that is composed of dilated lymphatic channels."" [url:https\://en.wikipedia.org/wiki/Lymphangioma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9789', 'ICD10CM:D18.1', 'ICD9CM:228.1', 'ICDO:9170/0', 'MESH:D008202', 'NCI:C8965', 'SNOMEDCT_US_2022_09_01:154625006', 'UMLS_CUI:C0024221']",['DOID:60006']
7390,14753,isovaleric acidemia,"""An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine."" [url:http\://en.wikipedia.org/wiki/Isovaleric_acidemia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:465', 'ICD10CM:E71.110', 'MESH:C538167', 'NCI:C98964', 'OMIM:243500', 'SNOMEDCT_US_2022_09_01:87827003', 'UMLS_CUI:C0268575']",['DOID:0060159']
7391,14755,argininosuccinic aciduria,"""An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine."" [url:http\://en.wikipedia.org/wiki/Argininosuccinic_aciduria]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5843', 'MESH:D056807', 'NCI:C84569', 'OMIM:207900', 'SNOMEDCT_US_2022_09_01:41013004', 'UMLS_CUI:C0268547']",['DOID:9252']
7392,14756,vascular type Ehlers-Danlos syndrome,"""An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits."" [url:https\://pubmed.ncbi.nlm.nih.gov/21637106/]",['DO_rare_slim'],"['GARD:2082', 'NCI:C125699', 'OMIM:130050', 'ORDO:286']",['DOID:13359']
7393,14757,Ehlers-Danlos syndrome hypermobility type,"""An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity."" [url:https\://pubmed.ncbi.nlm.nih.gov/28306229/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2081', 'ICD10CM:Q79.62', 'MESH:C536196', 'NCI:C125698', 'OMIM:130020', 'SNOMEDCT_US_2022_09_01:30652003', 'UMLS_CUI:C0268337']",['DOID:13359']
7395,14761,Greig cephalopolysyndactyly syndrome,"""An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face."" [url:http\://en.wikipedia.org/wiki/Greig_cephalopolysyndactyly_syndrome, url:http\://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6550]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6550', 'MESH:C537300', 'NCI:C35255', 'OMIM:175700', 'SNOMEDCT_US_2022_09_01:32985001', 'UMLS_CUI:C0265306']",['DOID:12960']
7397,14764,Larsen syndrome,"""A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities."" [url:http\://en.wikipedia.org/wiki/Larsen_syndrome, url:https\://ghr.nlm.nih.gov/condition/larsen-syndrome]",['DO_rare_slim'],"['GARD:6860', 'MESH:C580241', 'OMIM:150250']",['DOID:225']
7398,14766,renal agenesis,"""A renal disease that is characterized by the failure of one or both kidneys to develop."" [url:https\://en.wikipedia.org/wiki/Renal_agenesis]",['DO_rare_slim'],"['GARD:9228', 'MESH:C563261', 'OMIM:191830', 'ORDO:93108']",['DOID:557']
7399,14768,Saethre-Chotzen syndrome,"""An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull."" [url:http\://children.webmd.com/saethre-chotzen-syndrome, url:http\://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome, url:http\://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome, url:http\://www.healthline.com/galecontent/saethre-chotzen-syndrome, url:https\://www.faces-cranio.org/saethre-chotzen]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7598', 'MESH:D000168', 'NCI:C75034', 'OMIM:101400', 'OMIM:180750', 'ORDO:794', 'SNOMEDCT_US_2022_09_01:390726000', 'UMLS_CUI:C0175699']",['DOID:12960']
7400,14773,cartilage-hair hypoplasia,"""An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in RMRP on chromosome 9p13.3."" [url:https\://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/11207361]",['NCIthesaurus'],"['MESH:C535916', 'NCI:C61245', 'OMIM:250250', 'SNOMEDCT_US_2022_09_01:234421004', 'UMLS_CUI:C0220748']",['DOID:2121']
7401,14775,brittle cornea syndrome 1,"""An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24."" [url:https\://pubmed.ncbi.nlm.nih.gov/28306229/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1019', 'MESH:C536198', 'NCI:C125700', 'OMIM:229200', 'SNOMEDCT_US_2022_09_01:25606004', 'UMLS_CUI:C0268342']",['DOID:13359']
7404,14780,KBG syndrome,"""A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton."" [url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=KBG%20Syndrome]",['DO_rare_slim'],"['GARD:82', 'MESH:C537015', 'OMIM:148050', 'ORDO:2332', 'SNOMEDCT_US_2022_09_01:711156009', 'UMLS_CUI:C0220687']",['DOID:225']
7405,14784,olivopontocerebellar atrophy,"""A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives."" [url:http\://www.ninds.nih.gov/disorders/opca/opca.htm]","['DO_FlyBase_slim', 'NCIthesaurus']","['MESH:D009849', 'NCI:C84947', 'SNOMEDCT_US_2022_09_01:67761004', 'UMLS_CUI:C0028968']",['DOID:1289']
7406,14789,spondyloepiphyseal dysplasia congenita,"""A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11."" [url:https\://pubmed.ncbi.nlm.nih.gov/1971141/]",['DO_rare_slim'],"['GARD:4987', 'MESH:C535788', 'OMIM:183900']",['DOID:0112280']
7407,14791,Leber congenital amaurosis,"""A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness."" [url:http\://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:634', 'MESH:D057130', 'NCI:C129075', 'OMIM:PS204000', 'ORDO:65', 'SNOMEDCT_US_2022_09_01:193413001', 'UMLS_CUI:C0339527']",['DOID:5679']
7408,14793,hypohidrotic ectodermal dysplasia,"""An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth)."" [url:http\://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1112/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468]","['DO_rare_slim', 'NCIthesaurus']","['GARD:76', 'MESH:D053358', 'NCI:C84562', 'ORDO:238468', 'SNOMEDCT_US_2022_09_01:239007005', 'UMLS_CUI:C0162359']",['DOID:2121']
7409,14796,Dubowitz syndrome,"""A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids."" [url:http\://en.wikipedia.org/wiki/Dubowitz_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6290', 'ICD10CM:Q87.19', 'MEDDRA:10059589', 'MESH:C535718', 'NCI:C125591', 'OMIM:223370', 'SNOMEDCT_US_2022_09_01:2593002', 'UMLS_CUI:C0175691']",['DOID:225']
7410,14798,Blount's disease,"""An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally."" [url:http\://en.wikipedia.org/wiki/Blount%27s_disease, url:http\://www.e-radiography.net/radpath/b/blountsdisease.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001584.htm, url:http\://www.wheelessonline.com/ortho/blounts_disease]",['DO_rare_slim'],"['GARD:916', 'OMIM:188700', 'OMIM:259200', 'SNOMEDCT_US_2022_09_01:880067009', 'UMLS_CUI:C0220757']",['DOID:2256']
7412,1485,cystic fibrosis,"""A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs."" [url:http\://en.wikipedia.org/wiki/Cystic_fibrosis, url:http\://ghr.nlm.nih.gov/condition/cystic-fibrosis, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/cf/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6233', 'ICD10CM:E84', 'ICD9CM:277.0', 'MESH:D003550', 'NCI:C2975', 'OMIM:219700', 'ORDO:586', 'SNOMEDCT_US_2022_09_01:85809002', 'UMLS_CUI:C0010674']",['DOID:225']
7413,1495,cystic echinococcosis,"""An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected."" [url:http\://www.who.int/mediacentre/factsheets/fs377/en/]",['DO_infectious_disease_slim'],"['ICD10CM:B67.4', 'ICD9CM:122.4', 'SNOMEDCT_US_2022_09_01:75006000', 'UMLS_CUI:C0152068']",['DOID:1496']
7414,1496,echinococcosis,"""A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys."" [url:http\://en.wikipedia.org/wiki/Echinococcosis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=echinococcosis]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B67', 'ICD9CM:122', 'MESH:D004443', 'NCI:C84682', 'SNOMEDCT_US_2022_09_01:154414008', 'UMLS_CUI:C0013502']",['DOID:883']
7415,1498,cholera,"""A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock."" [url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/#what, url:http\://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html]","['DO_FlyBase_slim', 'DO_infectious_disease_slim', 'DO_rare_slim', 'GOLD', 'gram-negative_bacterial_infectious_disease']","['GARD:6043', 'ICD10CM:A00', 'ICD9CM:001', 'MESH:D002771', 'SNOMEDCT_US_2022_09_01:186087007', 'UMLS_CUI:C0008354']",['DOID:0050338']
7416,15,reproductive system disease,"""A disease of anatomical entity that is located_in reproductive system organs."" [url:http\://en.wikipedia.org/wiki/Reproductive_system]","['DO_AGR_slim', 'DO_CFDE_slim', 'DO_GXD_slim', 'DO_MGI_slim', 'NCIthesaurus']","['NCI:C27613', 'UMLS_CUI:C1335037']",['DOID:7']
7417,150,disease of mental health,"""A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture."" [url:http\://en.wikipedia.org/wiki/Mental_disorder]","['DO_AGR_slim', 'DO_CFDE_slim', 'DO_GXD_slim', 'DO_MGI_slim', 'DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:F99', 'MESH:D001523', 'NCI:C2893', 'SNOMEDCT_US_2022_09_01:74732009', 'UMLS_CUI:C0004936']",['DOID:4']
7418,1508,candidiasis,"""An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons."" [url:http\://en.wikipedia.org/wiki/Candidiasis, url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B37', 'ICD9CM:112', 'MESH:D002177', 'NCI:C26711', 'SNOMEDCT_US_2022_09_01:154403005', 'UMLS_CUI:C0006840']",['DOID:2473']
7419,1509,avoidant personality disorder,"""A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction."" [url:http\://en.wikipedia.org/wiki/Avoidant_personality_disorder]",['NCIthesaurus'],"['ICD10CM:F60.6', 'ICD9CM:301.82', 'MESH:D010554', 'NCI:C92636', 'SNOMEDCT_US_2022_09_01:191771004', 'UMLS_CUI:C0004444']",['DOID:1510']
7420,1510,personality disorder,"""A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work."" [url:http\://www.nlm.nih.gov/medlineplus/personalitydisorders.html]",['DO_RAD_slim'],"['ICD9CM:301.8', 'SNOMEDCT_US_2022_09_01:191770003', 'UMLS_CUI:C0029707']",['DOID:150']
7422,1513,chronic cervicitis,"""A cervicitis that is present for weeks or more."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27243142]",['NCIthesaurus'],"['NCI:C27057', 'SNOMEDCT_US_2022_09_01:198210003', 'UMLS_CUI:C0269062']",['DOID:2568']
7423,1517,cecal benign neoplasm,"""An intestinal benign neoplasm that is located_in the cecum."" [url:http\://en.wikipedia.org/wiki/Cecum]",['NCIthesaurus'],"['MESH:D002430', 'NCI:C4433', 'SNOMEDCT_US_2022_09_01:126839008', 'UMLS_CUI:C0007528']",['DOID:4610']
7425,1519,cecum carcinoma,"""A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:http\://en.wikipedia.org/wiki/Carcinoma]",['NCIthesaurus'],"['NCI:C3491', 'SNOMEDCT_US_2022_09_01:269538009', 'UMLS_CUI:C0149640']",['DOID:1521']
7426,1520,colon carcinoma,"""A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:http\://en.wikipedia.org/wiki/Carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C4910', 'SNOMEDCT_US_2022_09_01:154454005', 'UMLS_CUI:C0699790']",['DOID:219']
7427,1521,cecum cancer,"""A large intestine cancer that is located_in the cecum."" [url:http\://en.wikipedia.org/wiki/Cecum]",['NCIthesaurus'],"['ICD10CM:C18.0', 'ICD9CM:153.4', 'MESH:D002430', 'NCI:C9329', 'SNOMEDCT_US_2022_09_01:93736007', 'UMLS_CUI:C0153437']",['DOID:5672']
7431,1526,panniculitis,"""A skin disease that is characterized by inflammation of subcutaneous adipose tissue."" [url:https\://en.wikipedia.org/wiki/Panniculitis]",['NCIthesaurus'],"['ICD10CM:M79.3', 'ICD9CM:729.30', 'MESH:D015434', 'NCI:C112112', 'SNOMEDCT_US_2022_09_01:268122002', 'UMLS_CUI:C0030326']",['DOID:37']
7433,1532,pleural disease,"""A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism."" [url:http\://en.wikipedia.org/wiki/Pleural_disease]","['DO_RAD_slim', 'NCIthesaurus']","['MESH:D010995', 'NCI:C26859', 'SNOMEDCT_US_2022_09_01:88075009', 'UMLS_CUI:C0032226']",['DOID:0050161']
7434,154,mixed cell type cancer,"""A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue."" [url:http\://medical-dictionary.thefreedictionary.com/mixed+neoplasm]",['NCIthesaurus'],"['MESH:D018198', 'NCI:C3729', 'NCI:C6930', 'SNOMEDCT_US_2022_09_01:8145008', 'UMLS_CUI:C0206625', 'UMLS_CUI:C1368354']",['DOID:0050687']
7435,1540,parathyroid carcinoma,"""An endocrine gland cancer located_in the parathyroid glands located in the neck."" [url:http\://en.wikipedia.org/wiki/Parathyroid_gland]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7329', 'ICD10CM:C75.0', 'ICD9CM:194.1', 'MESH:D010282', 'NCI:C3313', 'NCI:C4906', 'NCI:C9322', 'OMIM:608266', 'SNOMEDCT_US_2022_09_01:127020005', 'SNOMEDCT_US_2022_09_01:255037004', 'SNOMEDCT_US_2022_09_01:363481002', 'UMLS_CUI:C0030521', 'UMLS_CUI:C0153653', 'UMLS_CUI:C0687150']",['DOID:170']
7436,1542,head and neck carcinoma,"""A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx."" [url:http\://en.wikipedia.org/wiki/Head_and_neck_cancer, url:http\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.09e&code=C35850&ns=NCI_Thesaurus&key=153772862&b=1&n=null, url:http\://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6077', 'UMLS_CUI:C1334927']",['DOID:11934']
7437,1554,vibratory urticaria,"""A physical urticaria that is characterized by itching, reddish skin and swelling within minutes of local exposure to dermal vibration and that has_material_basis_in heterozygous mutation in the ADGRE2 gene on chromosome 19p13."" [url:https\://pubmed.ncbi.nlm.nih.gov/26841242/]",['DO_rare_slim'],"['GARD:9806', 'ICD10CM:L50.4', 'ICD9CM:708.4', 'MESH:D000094482', 'OMIM:125630', 'SNOMEDCT_US_2022_09_01:51247001', 'UMLS_CUI:C0157743']",['DOID:0060220']
7439,1556,arthus reaction,"""A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls."" [url:https\://en.wikipedia.org/wiki/Arthus_reaction]",['NCIthesaurus'],"['ICD10CM:T78.41', 'ICD9CM:995.21', 'MESH:D001183', 'NCI:C34400', 'SNOMEDCT_US_2022_09_01:402413008', 'UMLS_CUI:C0003907']",['DOID:1557']
7441,1558,angioedema,"""A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues."" [url:http\://en.wikipedia.org/wiki/Angioedema, url:https\://www.ncbi.nlm.nih.gov/books/NBK430889/]",['NCIthesaurus'],"['ICD10CM:T78.3', 'MESH:D000799', 'NCI:C112175', 'SNOMEDCT_US_2022_09_01:41291007', 'UMLS_CUI:C0002994']",['DOID:37']
7442,1561,cognitive disorder,"""A disease of mental health that affects cognitive functions including memory processing, perception and problem solving."" [url:http\://en.wikipedia.org/wiki/Cognitive_disorder]","['DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:F09', 'MESH:D019965', 'NCI:C34870', 'SNOMEDCT_US_2022_09_01:111479008', 'UMLS_CUI:C0029227']",['DOID:150']
7443,1562,chromoblastomycosis,"""A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection."" [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4005]","['DO_infectious_disease_slim', 'DO_rare_slim']","['GARD:1319', 'ICD10CM:B43.9', 'ICD9CM:117.2', 'MESH:D002862', 'SNOMEDCT_US_2022_09_01:187079000', 'UMLS_CUI:C0008582']",['DOID:0050135']
7444,1563,dermatomycosis,"""A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes."" [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4004]",['DO_infectious_disease_slim'],"['ICD9CM:111.9', 'MESH:D003881', 'SNOMEDCT_US_2022_09_01:47382004', 'UMLS_CUI:C0011630']",['DOID:0050134']
7445,1564,fungal infectious disease,"""A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body."" [url:http\://en.wikipedia.org/wiki/Mycoses]","['DO_AGR_slim', 'DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B49', 'ICD9CM:110-118.99', 'MESH:D009181', 'NCI:C3245', 'SNOMEDCT_US_2022_09_01:154393000', 'UMLS_CUI:C0026946']",['DOID:0050117']
7451,1574,alcohol use disorder,"""A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences."" [url:http\://en.wikipedia.org/wiki/Alcohol_abuse, url:https\://www.niaaa.nih.gov/alcohol-health/overview-alcohol-consumption/alcohol-use-disorders]","['DO_FlyBase_slim', 'NCIthesaurus']","['ICD10CM:F10.1', 'ICD9CM:305.0', 'MESH:D000437', 'NCI:C20701', 'SNOMEDCT_US_2022_09_01:15167005', 'UMLS_CUI:C0085762']",['DOID:302']
7455,1579,respiratory system disease,"""A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm."" [url:http\://en.wikipedia.org/wiki/File\:Respiratory_system_complete_en.svg, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory%20system]","['DO_AGR_slim', 'DO_CFDE_slim', 'DO_GXD_slim', 'DO_MGI_slim', 'DO_RAD_slim']","['ICD10CM:J98', 'ICD9CM:519', 'SNOMEDCT_US_2022_09_01:155603009', 'UMLS_CUI:C0029582']",['DOID:7']
7457,1583,laryngeal tuberculosis,"""A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia."" [url:http\://www.cdc.gov/mmwr/PDF/rr/rr5417.pdf, url:http\://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16749607, url:http\://www.springerlink.com/content/58281g77v7054641/fulltext.pdf]",['NCIthesaurus'],"['ICD10CM:A15.5', 'ICD9CM:012.3', 'MESH:D014387', 'NCI:C26895', 'SNOMEDCT_US_2022_09_01:70341005', 'UMLS_CUI:C0041315']",['DOID:3437']
7458,1584,acute chest syndrome,"""A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph."" [url:http\://en.wikipedia.org/wiki/Acute_chest_syndrome]",['NCIthesaurus'],"['ICD9CM:517.3', 'MESH:D056586', 'NCI:C138179', 'SNOMEDCT_US_2022_09_01:372146004', 'UMLS_CUI:C0742343']",['DOID:850']
7459,1586,rheumatic fever,"""A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever."" [url:https\://en.wikipedia.org/wiki/Rheumatic_fever, url:https\://medlineplus.gov/ency/article/003940.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['GARD:5699', 'ICD10CM:I00', 'ICD10CM:I00-I02', 'ICD9CM:390', 'ICD9CM:390-392.99', 'MESH:D012213', 'NCI:C34984', 'SNOMEDCT_US_2022_09_01:155265007', 'SNOMEDCT_US_2022_09_01:274095001', 'UMLS_CUI:C0035436', 'UMLS_CUI:C0264743']",['DOID:104']
7461,1588,thrombocytopenia,"""A blood platelet disease that is characterized by low a platelet count in the blood."" [url:http\://en.wikipedia.org/wiki/Thrombocytopenia, url:http\://ghr.nlm.nih.gov/glossary=thrombocytopenia, url:http\://www.merckmanuals.com/professional/hematology_and_oncology/thrombocytopenia_and_platelet_dysfunction/overview_of_platelet_disorders.html]",['DO_rare_slim'],"['ICD10CM:D69.6', 'ICD9CM:287.5', 'MESH:D013921', 'OMIM:188000', 'OMIM:273900', 'OMIM:300367', 'OMIM:313900', 'OMIM:612004', 'ORDO:852', 'SNOMEDCT_US_2022_09_01:165556002', 'UMLS_CUI:C0040034']",['DOID:2218']
7463,1595,melancholic depression,"""A major depressive disorder characterized by near-complete absence of pleasure."" [url:https\://pubmed.ncbi.nlm.nih.gov/15596079/]",['NCIthesaurus'],"['MESH:D003866', 'NCI:C34532', 'NCI:C34812', 'OMIM:608516', 'SNOMEDCT_US_2022_09_01:191599006', 'SNOMEDCT_US_2022_09_01:35489007', 'UMLS_CUI:C0011573', 'UMLS_CUI:C0041696']",['DOID:1470']
7464,1596,depressive disorder,"""A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function."" [url:https\://my.clevelandclinic.org/health/diseases/9290-depression, url:https\://pubmed.ncbi.nlm.nih.gov/31550874/]",['NCIthesaurus'],"['ICD10CM:F33.9', 'MESH:D003866', 'NCI:C2982', 'SNOMEDCT_US_2023_02_28:35489007', 'UMLS_CUI:C0011570']",['DOID:3324']
7466,1602,lymphadenitis,"""A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes."" [url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/lymphadenitis]",['NCIthesaurus'],"['ICD10CM:I88.1', 'ICD10CM:L04', 'ICD9CM:289.1', 'ICD9CM:683', 'MESH:D008199', 'NCI:C26821', 'NCI:C26966', 'NCI:C26978', 'SNOMEDCT_US_2022_09_01:154836001', 'SNOMEDCT_US_2022_09_01:156318008', 'SNOMEDCT_US_2022_09_01:19471005', 'UMLS_CUI:C0024205', 'UMLS_CUI:C0154304', 'UMLS_CUI:C0157705']",['DOID:9942']
7468,161,keratosis,"""A skin disease characterized_by growth of keratin on the skin or mucous membranes."" [url:https\://en.wikipedia.org/wiki/Keratosis]",['NCIthesaurus'],"['MESH:D007642', 'NCI:C34747', 'SNOMEDCT_US_2022_09_01:254666005', 'UMLS_CUI:C0022593']",['DOID:37']
7469,1612,breast cancer,"""A thoracic cancer that originates in the mammary gland."" [url:http\://en.wikipedia.org/wiki/Breast_cancer, url:http\://en.wikipedia.org/wiki/Mammary, url:http\://www.cancer.gov/cancertopics/types/breast, url:http\://www.nlm.nih.gov/medlineplus/breastcancer.html]","['DO_cancer_slim', 'DO_CFDE_slim', 'DO_RAD_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C50', 'MESH:D001943', 'NCI:C9335', 'OMIM:114480', 'SNOMEDCT_US_2022_09_01:254837009', 'UMLS_CUI:C0006142']",['DOID:5093']
7470,1614,male breast cancer,"""A breast cancer that occurs in males."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24131976]",['DO_rare_slim'],"['GARD:9312', 'MESH:D018567', 'SNOMEDCT_US_2022_09_01:126937006', 'UMLS_CUI:C0242788']",['DOID:1612']
7471,1616,benign eccrine breast spiradenoma,"""A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25284865/, url:https\://www.ncbi.nlm.nih.gov/pubmed/26236527/]",['NCIthesaurus'],"['NCI:C5193', 'UMLS_CUI:C1332492']",['DOID:0060082']
7472,1618,breast fibroadenoma,"""A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast."" [url:http\://en.wikipedia.org/wiki/Fibroadenoma, url:http\://www.nlm.nih.gov/medlineplus/ency/article/007216.htm]",['NCIthesaurus'],"['ICD10CM:D24', 'MESH:D018226', 'NCI:C3744', 'NCI:C4276', 'NCI:C5194', 'SNOMEDCT_US_2022_09_01:254847007', 'SNOMEDCT_US_2022_09_01:269640007', 'SNOMEDCT_US_2022_09_01:65877006', 'UMLS_CUI:C0178421', 'UMLS_CUI:C0206650', 'UMLS_CUI:C0346158', 'UMLS_CUI:C1333137']",['DOID:0060082']
7473,162,cancer,"""A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis."" [url:http\://en.wikipedia.org/wiki/cancer, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cancer]","['DO_AGR_slim', 'DO_cancer_slim', 'DO_CFDE_slim', 'DO_FlyBase_slim', 'DO_GXD_slim', 'DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:C80.1', 'ICD9CM:199', 'ICDO:8000/3', 'MESH:D009369', 'NCI:C9305', 'SNOMEDCT_US_2022_09_01:269513004', 'UMLS_CUI:C0006826']",['DOID:14566']
7474,1623,breast leiomyoma,"""A breast benign neoplasm that has_material_basis_in smooth muscle cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094828/]",['NCIthesaurus'],"['NCI:C40399', 'UMLS_CUI:C1511317']",['DOID:0060082']
7475,1625,breast adenoma,"""A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/949710]",['NCIthesaurus'],"['NCI:C40382', 'SNOMEDCT_US_2022_09_01:269640007', 'UMLS_CUI:C1328385']",['DOID:0060082']
7476,1626,breast duct papilloma,"""An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue."" [url:https\://en.wikipedia.org/wiki/Intraductal_papilloma]",['NCIthesaurus'],"['NCI:C3863', 'SNOMEDCT_US_2022_09_01:254848002', 'UMLS_CUI:C0238034']",['DOID:1628']
7478,1628,intraductal papillary breast neoplasm,"""An intraductal breast benign neoplasm that is characterized by fingerlike growth projections."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22336153]",['NCIthesaurus'],"['NCI:C36090', 'UMLS_CUI:C1334252']",['DOID:3013']
7479,1629,breast myofibroblastoma,"""A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation."" [url:http\://www.pathologyoutlines.com/topic/breastmyofibroblastoma.html, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199680/]",['NCIthesaurus'],"['NCI:C40397', 'UMLS_CUI:C1511320']",['DOID:0060082']
7480,1631,benign breast phyllodes tumor,"""A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast."" [url:https\://en.wikipedia.org/wiki/Phyllodes_tumor]",['NCIthesaurus'],"['ICD10CM:D48.6', 'MESH:D003557', 'NCI:C2977', 'NCI:C4274', 'NCI:C5196', 'SNOMEDCT_US_2022_09_01:16566002', 'SNOMEDCT_US_2022_09_01:71232009', 'SNOMEDCT_US_2022_09_01:720344007', 'UMLS_CUI:C0010701', 'UMLS_CUI:C0334501', 'UMLS_CUI:C1332533']",['DOID:0060082']
7481,1637,breast angiomatosis,"""A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia."" [url:http\://surgpathcriteria.stanford.edu/breast/angiomatosisbr/printable.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/23488550]",['NCIthesaurus'],"['NCI:C40381', 'UMLS_CUI:C1511284']",['DOID:1271']
7482,1638,central nervous system tuberculosis,"""An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord."" [url:https\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD9CM:013.2', 'MESH:D016862', 'SNOMEDCT_US_2022_09_01:40769007', 'UMLS_CUI:C0085388']",['DOID:0050598']
7483,1639,skeletal tuberculosis,"""An extrapulmonary tuberculosis that results in formation of lesions located in bone."" [url:http\://en.wikipedia.org/wiki/Bone_Tuberculosis]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD10CM:A18.0', 'ICD9CM:015.9', 'MESH:D014394', 'SNOMEDCT_US_2022_09_01:154287006', 'UMLS_CUI:C0041324']",['DOID:0050598']
7484,1641,benign breast adenomyoepithelioma,"""A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23627458]",['NCIthesaurus'],"['NCI:C5144', 'UMLS_CUI:C1332477']",['DOID:0060082']
7485,1642,breast adenomyoepithelioma,"""A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells."" [url:http\://www.ajronline.org/cgi/content/full/180/3/799]",['NCIthesaurus'],"['NCI:C5143', 'NCI:C6899', 'UMLS_CUI:C1334564', 'UMLS_CUI:C1510795']",['DOID:3004']
7489,1657,ventricular septal defect,"""A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles."" [url:http\://en.wikipedia.org/wiki/Ventricular_septal_defect, url:http\://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/ventricular_septal_defect_vsd.html]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7853', 'ICD10CM:Q21.0', 'ICD9CM:745.4', 'MESH:D006345', 'NCI:C84506', 'OMIM:614429', 'OMIM:614431', 'OMIM:614432', 'ORDO:1480', 'SNOMEDCT_US_2022_09_01:156914003', 'UMLS_CUI:C0018818']",['DOID:1681']
7490,1659,supratentorial cancer,"""A brain cancer that is located in the supratentorial region."" [url:http\://en.wikipedia.org/wiki/Tentorium_cerebelli]",['NCIthesaurus'],"['ICD10CM:C71.0', 'MESH:D015173', 'NCI:C3397', 'NCI:C4964', 'UMLS_CUI:C0038874', 'UMLS_CUI:C0751589']",['DOID:1319']
7493,1664,pineoblastoma,"""A pineal gland neoplasm located_in the brain."" [url:http\://en.wikipedia.org/wiki/Pinealoblastoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/28327927]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9369', 'ICDO:9362/3', 'MESH:D010871', 'NCI:C9344', 'SNOMEDCT_US_2022_09_01:31671006', 'UMLS_CUI:C0205898']",['DOID:5032']
7499,1679,cystitis,"""A bladder disease that is characterized by inflammation of the bladder."" [url:https\://www.mayoclinic.org/diseases-conditions/cystitis/symptoms-causes/syc-20371306]",['NCIthesaurus'],"['ICD10CM:N30', 'ICD9CM:595', 'MESH:D003556', 'NCI:C26738', 'SNOMEDCT_US_2022_09_01:38822007', 'UMLS_CUI:C0010692']",['DOID:365']
7503,1686,glaucoma,"""An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function."" [url:https\://en.wikipedia.org/wiki/Glaucoma, url:https\://www.aao.org/eye-health/diseases/what-is-glaucoma]","['DO_FlyBase_slim', 'NCIthesaurus']","['EFO:0000516', 'ICD10CM:H40', 'ICD9CM:365', 'MESH:D005901', 'NCI:C26782', 'SNOMEDCT_US_2022_09_01:155120009', 'UMLS_CUI:C0017601']",['DOID:5614']
7505,169,neuroendocrine tumor,"""An endocrine gland cancer that has_material_basis_in neuroendocrine cells."" [url:http\://en.wikipedia.org/wiki/Neuroendocrine_cell, url:http\://en.wikipedia.org/wiki/Neuroendocrine_tumor, url:http\://www.cancer.gov/dictionary?CdrID=44904]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:D3A.8', 'ICD9CM:209-209.99', 'ICDO:8240/3', 'MESH:D018358', 'NCI:C3809', 'SNOMEDCT_US_2022_09_01:55937004', 'UMLS_CUI:C0206754']",['DOID:170']
7506,1697,ichthyosis,"""A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed."" [url:http\://purl.obolibrary.org/obo/HP_0008064, url:http\://www.dermnetnz.org/topics/ichthyosis/, url:https\://en.wikipedia.org/wiki/Ichthyosis, url:https\://www.ncbi.nlm.nih.gov/books/NBK1420/]",['DO_rare_slim'],"['MESH:D007057', 'ORDO:79354']",['DOID:37']
7507,17,musculoskeletal system disease,"""A disease of anatomical entity that occurs in the muscular and/or skeletal system."" [url:http\://en.wikipedia.org/wiki/Human_musculoskeletal_system#Diseases_and_disorders]","['DO_AGR_slim', 'DO_CFDE_slim', 'DO_GXD_slim', 'DO_MGI_slim', 'NCIthesaurus']","['MESH:D009140', 'NCI:C107377', 'SNOMEDCT_US_2022_09_01:268047003', 'UMLS_CUI:C0026857']",['DOID:7']
7508,170,endocrine gland cancer,"""An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system."" [url:http\://en.wikipedia.org/wiki/Endocrine_system]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C75.9', 'ICD9CM:194.9', 'MESH:D004701', 'NCI:C3010', 'NCI:C3575', 'SNOMEDCT_US_2022_09_01:127015005', 'SNOMEDCT_US_2022_09_01:93780007', 'UMLS_CUI:C0014132', 'UMLS_CUI:C0153658']",['DOID:0050686']
7509,1700,X-linked ichthyosis,"""An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22."" [url:https\://rarediseases.info.nih.gov/diseases/7904/disease, url:https\://www.omim.org/entry/308100]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7904', 'ICD10CM:Q80.1', 'MESH:D016114', 'NCI:C84779', 'OMIM:308100', 'SNOMEDCT_US_2022_09_01:72523005', 'UMLS_CUI:C0079588']",['DOID:1697']
7511,1702,ichthyosis vulgaris,"""An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface."" [url:https\://www.mayoclinic.org/diseases-conditions/ichthyosis-vulgaris/symptoms-causes/syc-20373754]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6752', 'ICD10CM:Q80.0', 'MESH:D016112', 'NCI:C84778', 'OMIM:146700', 'SNOMEDCT_US_2022_09_01:205551004', 'UMLS_CUI:C0079584']",['DOID:1697']
7514,1712,aortic valve stenosis,"""An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening."" [url:http\://en.wikipedia.org/wiki/Aortic_valve_stenosis, url:https\://rarediseases.info.nih.gov/diseases/5830/aortic-valve-stenosis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5830', 'ICD10CM:I06.0', 'ICD10CM:Q23.0', 'ICD10CM:Q25.1', 'ICD9CM:395.0', 'ICD9CM:746.3', 'MESH:D001024', 'NCI:C50462', 'SNOMEDCT_US_2022_09_01:155282009', 'SNOMEDCT_US_2022_09_01:18546004', 'SNOMEDCT_US_2022_09_01:60573004', 'UMLS_CUI:C0003507', 'UMLS_CUI:C0152417', 'UMLS_CUI:C0155567']",['DOID:62']
7518,1725,peritoneum cancer,"""An organ system cancer that is located in the peritoneum."" [url:http\://en.wikipedia.org/wiki/Peritoneal_cancer]","['DO_MGI_slim', 'TopNodes_DOcancerslim']","['ICD10CM:C48.1', 'ICD9CM:158.8', 'SNOMEDCT_US_2022_09_01:187808008', 'UMLS_CUI:C0153466']",['DOID:0050686']
7523,1731,histoplasmosis,"""A primary systemic mycosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains."" [url:http\://www.cdc.gov/niosh/hi97146.html]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B39', 'ICD9CM:115', 'MESH:C538362', 'MESH:D006660', 'NCI:C34977', 'NCI:C77201', 'SNOMEDCT_US_2022_09_01:266218008', 'UMLS_CUI:C0019655', 'UMLS_CUI:C0035288']",['DOID:0050292']
7524,1733,cryptosporidiosis,"""A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection."" [url:http\://www.dpd.cdc.gov/DPDx/HTML/Cryptosporidiosis.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:6219', 'ICD10CM:A07.2', 'ICD9CM:007.4', 'MESH:D003457', 'NCI:C128408', 'SNOMEDCT_US_2022_09_01:186126003', 'UMLS_CUI:C0010418']",['DOID:2113']
7526,1738,small intestine leiomyoma,"""A small intestine benign neoplasm that is located_in the small intestine."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1869141/]",['NCIthesaurus'],"['NCI:C7725', 'SNOMEDCT_US_2022_09_01:424279009', 'UMLS_CUI:C0238197']",['DOID:7505']
7529,1748,conjunctival squamous cell carcinoma,"""A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19883851, url:https\://www.ncbi.nlm.nih.gov/pubmed/27584160]",['NCIthesaurus'],"['NCI:C4549', 'SNOMEDCT_US_2022_09_01:255003007', 'UMLS_CUI:C0346359']",['DOID:5467']
7530,1749,squamous cell carcinoma,"""A carcinoma that derives_from squamous epithelial cells."" [url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['EFO:0000707', 'GARD:1091', 'ICDO:8070/3', 'MESH:D002294', 'MESH:D018307', 'NCI:C2929', 'SNOMEDCT_US_2022_09_01:154605007', 'UMLS_CUI:C0007137', 'UMLS_CUI:C0751688']",['DOID:305']
7531,175,vascular cancer,"""A cardiovascular cancer that is located_in blood vessels."" [url:http\://en.wikipedia.org/wiki/Vascular]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['MESH:D019043', 'NCI:C5348', 'NCI:C5380', 'NCI:C5383', 'NCI:C5388', 'NCI:C7390', 'SNOMEDCT_US_2022_09_01:126737003', 'SNOMEDCT_US_2022_09_01:93817006', 'UMLS_CUI:C0282607', 'UMLS_CUI:C0346845', 'UMLS_CUI:C1290407', 'UMLS_CUI:C1334616', 'UMLS_CUI:C1334617', 'UMLS_CUI:C1334630', 'UMLS_CUI:C1335753']",['DOID:176']
7533,1752,ocular melanoma,"""An ocular cancer that has_material_basis_in melanocytes and is located_in the eye."" [url:http\://www.cancer.gov/dictionary?CdrID=269467]","['DO_cancer_slim', 'DO_rare_slim']","['GARD:7236', 'GARD:8621']",['DOID:2174']
7534,1754,mitral valve stenosis,"""A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart."" [url:http\://en.wikipedia.org/wiki/Mitral_valve_stenosis]",['NCIthesaurus'],"['MESH:D008946', 'NCI:C50654', 'SNOMEDCT_US_2022_09_01:79619009', 'UMLS_CUI:C0026269']",['DOID:61']
7535,1756,facial nerve disease,"""A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve."" [url:https\://ent.uci.edu/more-at-uc-irvine/conditions/facial-nerve-disorders.asp]",['NCIthesaurus'],"['ICD10CM:G51', 'ICD9CM:351', 'MESH:D005155', 'NCI:C27594', 'SNOMEDCT_US_2022_09_01:90039006', 'UMLS_CUI:C0015464']",['DOID:5656']
7537,1759,American histoplasmosis,"""A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted by airborne spores and has symptom nonproductive cough, has symptom headache, has symptom loss of appetite and has symptom muscle pains."" [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/16940867]",['DO_infectious_disease_slim'],"['ICD10CM:B39.4', 'ICD9CM:115.0', 'MESH:D006660', 'SNOMEDCT_US_2022_09_01:187036002', 'UMLS_CUI:C0153261']",['DOID:1731']
7538,176,cardiovascular cancer,"""An organ system cancer that located_in the heart and blood vessels."" [url:http\://www.cancer.gov/dictionary?CdrID=44005, url:https\://www.ncbi.nlm.nih.gov/books/NBK537144/]",['NCIthesaurus'],"['NCI:C4784', 'SNOMEDCT_US_2022_09_01:721573003', 'UMLS_CUI:C0497243']",['DOID:0050686']
7541,1762,cheilitis,"""A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa."" [url:http\://en.wikipedia.org/wiki/Cheilitis]",['NCIthesaurus'],"['ICD10CM:K13.0', 'MESH:D002613', 'NCI:C79545', 'SNOMEDCT_US_2022_09_01:155664000', 'UMLS_CUI:C0007971']",['DOID:9297']
7543,1768,conversion disorder,"""A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause."" [url:http\://en.wikipedia.org/wiki/Conversion_disorder]",['DO_rare_slim'],"['GARD:6191', 'ICD10CM:F44', 'ICD9CM:300.11', 'MESH:D003291', 'SNOMEDCT_US_2022_09_01:20734000', 'UMLS_CUI:C0009946']",['DOID:4737']
7547,178,vascular disease,"""A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart."" [url:http\://en.wikipedia.org/wiki/Vascular_disease]","['DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:I72.9', 'ICD9CM:442.9', 'MESH:D000783', 'MESH:D014652', 'MESH:D020758', 'MESH:D020760', 'NCI:C26693', 'NCI:C35117', 'SNOMEDCT_US_2022_09_01:27550009', 'SNOMEDCT_US_2022_09_01:371029002', 'SNOMEDCT_US_2022_09_01:432119003', 'UMLS_CUI:C0002940', 'UMLS_CUI:C0042373', 'UMLS_CUI:C0752127', 'UMLS_CUI:C0752130']",['DOID:1287']
7548,1781,thyroid gland cancer,"""An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."" [url:http\://en.wikipedia.org/wiki/Thyroid_gland]","['DO_cancer_slim', 'DO_CFDE_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C73', 'ICD9CM:193', 'KEGG:05216', 'MESH:D013964', 'NCI:C3414', 'NCI:C7510', 'SNOMEDCT_US_2022_09_01:127018007', 'SNOMEDCT_US_2022_09_01:94098005', 'UMLS_CUI:C0007115', 'UMLS_CUI:C0040136']",['DOID:170']
7549,1785,pituitary cancer,"""An endocrine gland cancer located_in the pituitary gland located at the base of the brain."" [url:http\://en.wikipedia.org/wiki/Pituitary_gland]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9371', 'ICD10CM:C75.1', 'MESH:D010911', 'NCI:C3330', 'NCI:C4769', 'SNOMEDCT_US_2022_09_01:127024001', 'SNOMEDCT_US_2022_09_01:93964007', 'UMLS_CUI:C0032019', 'UMLS_CUI:C0496842']",['DOID:170']
7551,1787,pericarditis,"""A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain."" [url:http\://en.wikipedia.org/wiki/Pericarditis]","['DO_RAD_slim', 'NCIthesaurus']","['MESH:D010493', 'NCI:C34915', 'SNOMEDCT_US_2022_09_01:3238004', 'UMLS_CUI:C0031046']",['DOID:0050829']
7552,1788,peritoneal mesothelioma,"""A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum."" [url:http\://en.wikipedia.org/wiki/Mesothelioma]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:C45.1', 'NCI:C8704', 'NCI:C9350', 'SNOMEDCT_US_2022_09_01:187806007', 'UMLS_CUI:C0346109', 'UMLS_CUI:C0854886']",['DOID:1725']
7554,1790,malignant mesothelioma,"""A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs."" [url:http\://cancergenome.nih.gov/cancersselected/Mesothelioma, url:http\://www.cancer.gov/dictionary?CdrID=44323, url:http\://www.merriam-webster.com/medlineplus/mesothelioma, url:https\://en.wikipedia.org/wiki/Mesothelioma]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:D000086002', 'NCI:C27926', 'NCI:C4456', 'NCI:C7865', 'NCI:C8420', 'OMIM:156240', 'SNOMEDCT_US_2022_09_01:109378008', 'UMLS_CUI:C0278752', 'UMLS_CUI:C0345967', 'UMLS_CUI:C0392400', 'UMLS_CUI:C1332338']",['DOID:0050687']
7555,1791,peritoneal carcinoma,"""A peritoneum cancer that is located_in the inside of the abdomen."" [url:https\://www.cedars-sinai.org/health-library/diseases-and-conditions/p/peritoneal-cancer.html]",['NCIthesaurus'],"['NCI:C40022', 'UMLS_CUI:C1514428']",['DOID:1725']
7557,1793,pancreatic cancer,"""An endocrine gland cancer located_in the pancreas."" [url:http\://en.wikipedia.org/wiki/Pancreatic]","['DO_cancer_slim', 'DO_CFDE_slim', 'DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['GARD:9364', 'ICD10CM:C25.0', 'ICD10CM:C25.1', 'ICD10CM:C25.2', 'ICD9CM:157.0', 'ICD9CM:157.1', 'ICD9CM:157.2', 'ICD9CM:157.8', 'KEGG:05212', 'MESH:D010190', 'NCI:C3305', 'ORDO:1333', 'ORDO:217074', 'SNOMEDCT_US_2022_09_01:126859007', 'SNOMEDCT_US_2022_09_01:187796007', 'SNOMEDCT_US_2022_09_01:93715005', 'SNOMEDCT_US_2022_09_01:93823001', 'SNOMEDCT_US_2022_09_01:94082003', 'UMLS_CUI:C0030297', 'UMLS_CUI:C0153458', 'UMLS_CUI:C0153459', 'UMLS_CUI:C0153460', 'UMLS_CUI:C0153463']",['DOID:170']
7558,1795,malignant exocrine pancreas neoplasm,"""A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7430]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C7430', 'SNOMEDCT_US_2022_09_01:255088001', 'UMLS_CUI:C0346648']",['DOID:1793']
7559,1796,pancreas sarcoma,"""A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin."" [url:https\://brief.land/rro/articles/5126.html]",['NCIthesaurus'],"['NCI:C5715', 'UMLS_CUI:C1096346']",['DOID:1793']
7560,1798,pancreatic endocrine carcinoma,"""An islet cell tumor that has_material_basis_in epithelial cells."" [url:http\://en.wikipedia.org/wiki/Carcinoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:13034', 'ICD10CM:C25.4', 'ICD9CM:157.4', 'MESH:D018273', 'NCI:C3770', 'SNOMEDCT_US_2022_09_01:254612002', 'UMLS_CUI:C1328479']",['DOID:1799']
7561,1799,islet cell tumor,"""A pancreatic cancer that is located_in the pancreatic islet cells."" [url:http\://en.wikipedia.org/wiki/Islets_of_Langerhans, url:http\://en.wikipedia.org/wiki/Neuroendocrine_tumor]",['NCIthesaurus'],"['ICD10CM:C25.4', 'ICD10CM:D13.7', 'MESH:D007516', 'SNOMEDCT_US_2022_09_01:254611009', 'SNOMEDCT_US_2022_09_01:261713004', 'UMLS_CUI:C0242363', 'UMLS_CUI:C0496784']",['DOID:1793']
7562,18,urinary system disease,"""A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra."" [url:http\://en.wikipedia.org/wiki/Urinary_system]","['DO_AGR_slim', 'DO_CFDE_slim', 'DO_GXD_slim', 'DO_MGI_slim', 'NCIthesaurus']","['NCI:C27599', 'UMLS_CUI:C1335051']",['DOID:7']
7563,180,ossifying fibroma,"""A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma."" [url:http\://en.wikipedia.org/wiki/Ossifying_fibroma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9262/0', 'MESH:D018214', 'NCI:C8422', 'SNOMEDCT_US_2022_09_01:189896007', 'UMLS_CUI:C0206640']",['DOID:0060094']
7564,1800,neuroendocrine carcinoma,"""A carcinoma that derives_from neuroendocrine cells."" [url:https\://www.mayoclinic.org/diseases-conditions/neuroendocrine-tumors/symptoms-causes/syc-20354132]",['NCIthesaurus'],"['ICDO:8246/3', 'MESH:D018278', 'NCI:C3773', 'SNOMEDCT_US_2022_09_01:55937004', 'UMLS_CUI:C0206695']",['DOID:305']
7568,182,calcinosis,"""A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue."" [url:http\://en.wikipedia.org/wiki/Calcinosis]",['NCIthesaurus'],"['MESH:D002114', 'NCI:C3672', 'SNOMEDCT_US_2022_09_01:237881004', 'UMLS_CUI:C0006663']",['DOID:10575']
7571,1825,childhood absence epilepsy,"""A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years."" [url:http\://en.wikipedia.org/wiki/Childhood_absence_epilepsy]",['NCIthesaurus'],"['MESH:D004832', 'NCI:C3023', 'SNOMEDCT_US_2022_09_01:163596002', 'UMLS_CUI:C0014553']",['DOID:0050704']
7572,1826,epilepsy,"""A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions."" [url:http\://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false, url:http\://www.merriam-webster.com/medlineplus/epilepsy]","['DO_FlyBase_slim', 'NCIthesaurus']","['EFO:0000474', 'ICD10CM:G40.909', 'ICD9CM:345.9', 'MESH:D004827', 'NCI:C3020', 'SNOMEDCT_US_2022_09_01:267698007', 'UMLS_CUI:C0014544']",['DOID:936']
7573,1827,idiopathic generalized epilepsy,"""An epilepsy syndrome that is characterised by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain."" [url:http\://en.wikipedia.org/wiki/Epilepsy, url:http\://en.wikipedia.org/wiki/Generalized_epilepsy]",['NCIthesaurus'],"['MESH:D004829', 'NCI:C3021', 'OMIM:600669', 'SNOMEDCT_US_2022_09_01:155043003', 'UMLS_CUI:C0014548']",['DOID:1826']
7576,1837,diabetic ketoacidosis,"""A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus."" [url:https\://medlineplus.gov/ency/article/000320.htm, url:https\://www.mayoclinic.org/diseases-conditions/diabetic-ketoacidosis/symptoms-causes/syc-20371551]",['NCIthesaurus'],"['ICD9CM:250.1', 'MESH:D016883', 'NCI:C50530', 'OMIM:612227', 'SNOMEDCT_US_2022_09_01:154671004', 'UMLS_CUI:C0011880']",['DOID:0050758']
7578,184,bone cancer,"""A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue."" [url:http\://www.cancer.gov/cancertopics/factsheet/Sites-Types/bone, url:http\://www.cancer.gov/cancertopics/types/bone]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['MESH:D001859', 'NCI:C9343', 'SNOMEDCT_US_2022_09_01:126537000', 'UMLS_CUI:C0005967']",['DOID:201']
7580,1849,cannabis dependence,"""A drug dependence that involves the continued use of cannabis despite problems related to use of the substance."" [url:http\://en.wikipedia.org/wiki/Cannabis_dependence]",['NCIthesaurus'],"['ICD10CM:F12.2', 'ICD9CM:304.3', 'MESH:D002189', 'NCI:C34445', 'SNOMEDCT_US_2022_09_01:268766005', 'UMLS_CUI:C0006870']",['DOID:9977']
7581,1852,intrahepatic cholestasis,"""A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver."" [url:https\://medlineplus.gov/ency/article/000215.htm]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:10214', 'MESH:D002780', 'NCI:C84400', 'ORDO:284385', 'SNOMEDCT_US_2022_09_01:4637005', 'UMLS_CUI:C0008372']",['DOID:13580']
7582,1856,cherubism,"""A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in SH3BP2 on chromosome 4p16.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10364528, url:https\://www.ncbi.nlm.nih.gov/pubmed/11381256]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6036', 'ICD10CM:M27.8', 'MESH:D002636', 'NCI:C84630', 'OMIM:118400', 'SNOMEDCT_US_2022_09_01:76098004', 'UMLS_CUI:C0008029']",['DOID:37']
7583,1858,McCune Albright syndrome,"""A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis."" [url:http\://en.wikipedia.org/wiki/McCune%E2%80%93Albright_syndrome, url:http\://ghr.nlm.nih.gov/condition/mccune-albright-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK537092/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6995', 'ICD10CM:Q78.1', 'ICD9CM:756.54', 'MESH:D005359', 'NCI:C34610', 'OMIM:174800', 'SNOMEDCT_US_2022_09_01:205508003', 'UMLS_CUI:C0016065']",['DOID:225']
7589,1876,sexual dysfunction,"""A male reproductive system disease that is characterized by disturbances in sexual desire or performance."" [url:https\://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction]",['NCIthesaurus'],"['ICD10CM:F52.9', 'NCI:C3347', 'SNOMEDCT_US_2022_09_01:39894007', 'UMLS_CUI:C0549622']",['DOID:48']
7590,1882,atrial heart septal defect,"""A heart septal defect located_in in the septum that separates the two atria of the heart."" [url:https\://en.wikipedia.org/wiki/Atrial_septal_defect]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:Q21.1', 'MESH:D006344', 'NCI:C84473', 'OMIM:PS108800', 'ORDO:1478', 'SNOMEDCT_US_2022_09_01:156915002', 'UMLS_CUI:C0018817']",['DOID:1681']
7591,1883,hepatitis C,"""A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice."" [url:http\://www.cdc.gov/hepatitis/HCV/index.htm, url:http\://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf, url:http\://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf]","['DO_infectious_disease_slim', 'NCIthesaurus']","['EFO:0003047', 'ICD10CM:B19.20', 'ICD9CM:070.7', 'MESH:D006526', 'NCI:C3098', 'SNOMEDCT_US_2022_09_01:154349000', 'UMLS_CUI:C0019196']",['DOID:934']
7592,1884,viral hepatitis,"""A hepatitis that involves viral infection causing inflammation of the liver."" [url:http\://www.cdc.gov/HEPATITIS/]",['DO_infectious_disease_slim'],"['MESH:D006524', 'UMLS_CUI:C0019194']",['DOID:2237']
7593,1891,optic nerve disease,"""A cranial nerve disease that is located_in the optic nerve."" [url:http\://www.academy.org.uk/lectures/barnard3.htm, url:http\://www.nature.com/eye/journal/v18/n11/full/6701575a.html]",['NCIthesaurus'],"['MESH:D009901', 'NCI:C79698', 'SNOMEDCT_US_2022_09_01:77157004', 'UMLS_CUI:C0029132']",['DOID:5656']
7599,1901,vagina sarcoma,"""A vaginal cancer that has_material_basis_in connective tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21816677]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C7737', 'UMLS_CUI:C0238519']",['DOID:119']
7602,1909,melanoma,"""A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye."" [url:http\://en.wikipedia.org/wiki/Melanoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/22123420]","['DO_cancer_slim', 'DO_RAD_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['EFO:0000756', 'ICDO:8720/3', 'KEGG:05218', 'MESH:D008545', 'NCI:C3224', 'SNOMEDCT_US_2022_09_01:2092003', 'UMLS_CUI:C0025202']",['DOID:0050687']
7603,1910,vaginal yolk sac tumor,"""A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30814243]",['NCIthesaurus'],"['NCI:C6379', 'UMLS_CUI:C1336945']",['DOID:119']
7604,1911,endodermal sinus tumor,"""A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo."" [url:http\://en.wikipedia.org/wiki/Endodermal_sinus_tumor, url:http\://en.wikipedia.org/wiki/Germ_cell_tumor, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=876, url:https\://www.cincinnatichildrens.org/health/y/yolk-sac/]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9071/3', 'MESH:D018240', 'NCI:C3011', 'SNOMEDCT_US_2022_09_01:74409009', 'UMLS_CUI:C0014145']",['DOID:2994']
7605,1919,Lesch-Nyhan syndrome,"""A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26."" [url:https\://pubmed.ncbi.nlm.nih.gov/31182398/]",['NCIthesaurus'],"['ICD10CM:E79.1', 'MESH:D007926', 'NCI:C61255', 'OMIM:300322', 'SNOMEDCT_US_2022_09_01:190918000', 'UMLS_CUI:C0023374']",['DOID:653']
7606,192,sex cord-gonadal stromal tumor,"""A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts."" [url:http\://en.wikipedia.org/wiki/Sex_cord-gonadal_stromal_tumour]",['NCIthesaurus'],"['ICDO:8590/1', 'MESH:D018312', 'NCI:C3794', 'SNOMEDCT_US_2022_09_01:253028001', 'UMLS_CUI:C0206724']",['DOID:193']
7607,1920,hyperuricemia,"""An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood."" [url:http\://en.wikipedia.org/wiki/Hyperuricemia]",['NCIthesaurus'],"['MESH:D033461', 'NCI:C3961', 'SNOMEDCT_US_2022_09_01:271198001', 'UMLS_CUI:C0740394']",['DOID:0060158']
7608,1921,Klinefelter syndrome,"""A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men."" [url:https\://ghr.nlm.nih.gov/condition/klinefelter-syndrome, url:https\://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8705', 'ICD10CM:Q98.0', 'ICD9CM:758.7', 'MESH:D007713', 'NCI:C34752', 'SNOMEDCT_US_2022_09_01:405770005', 'UMLS_CUI:C0022735']",['DOID:0060429']
7610,1924,hypogonadism,"""A gonadal disease that is characterized by diminished functional activity of the gonads."" [url:http\://en.wikipedia.org/wiki/Hypogonadism]",['NCIthesaurus'],"['MESH:D007006', 'NCI:C9227', 'OMIM:241100', 'OMIM:312300', 'SNOMEDCT_US_2022_09_01:48130008', 'UMLS_CUI:C0020619']",['DOID:2277']
7611,1925,Coffin-Siris syndrome,"""An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails."" [url:http\://en.wikipedia.org/wiki/Coffin%E2%80%93Siris_syndrome, url:http\://ghr.nlm.nih.gov/condition/coffin-siris-syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1465]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6124', 'MESH:C536436', 'NCI:C35321', 'OMIM:PS135900', 'ORDO:1465', 'SNOMEDCT_US_2022_09_01:10007009', 'UMLS_CUI:C0265338']",['DOID:0060307']
7612,1926,Gaucher's disease,"""A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver."" [url:http\://en.wikipedia.org/wiki/Gaucher%27s_disease, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:8233', 'ICD10CM:E75.22', 'MESH:D005776', 'NCI:C61268', 'ORDO:355', 'SNOMEDCT_US_2022_09_01:190794006', 'UMLS_CUI:C0017205']",['DOID:1927']
7613,1927,sphingolipidosis,"""A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates."" [url:https\://en.wikipedia.org/wiki/Sphingolipidoses, url:https\://www.ncbi.nlm.nih.gov/pubmed/28857617]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7672', 'ICD10CM:E75.3', 'MESH:D013106', 'NCI:C117254', 'SNOMEDCT_US_2022_09_01:58459009', 'UMLS_CUI:C0037899']",['DOID:9455']
7614,1928,Williams-Beuren syndrome,"""A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23."" [url:https\://ghr.nlm.nih.gov/condition/williams-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1249/]","['DO_FlyBase_slim', 'NCIthesaurus']","['ICD10CM:Q93.82', 'MESH:D018980', 'NCI:C85232', 'OMIM:194050', 'SNOMEDCT_US_2022_09_01:63247009', 'UMLS_CUI:C0175702']",['DOID:225']
7615,1929,supravalvular aortic stenosis,"""An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart."" [url:https\://ghr.nlm.nih.gov/condition/supravalvular-aortic-stenosis, url:https\://rarediseases.info.nih.gov/diseases/743/supravalvular-aortic-stenosis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:743', 'ICD10CM:Q25.3', 'MESH:D021921', 'NCI:C85176', 'OMIM:185500', 'SNOMEDCT_US_2022_09_01:204436002', 'UMLS_CUI:C0003499']",['DOID:1712']
7616,193,reproductive organ cancer,"""An organ system cancer that is manifested in the reproductive organs."" [url:http\://en.wikipedia.org/wiki/Reproductive_system#Examples_of_cancers]",['NCIthesaurus'],"['NCI:C3674', 'UMLS_CUI:C0178830']",['DOID:0050686']
7617,1930,Laurence-Moon syndrome,"""A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on chromosome 19p13.2."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25480986]","['DO_rare_slim', 'NCIthesaurus']","['GARD:12635', 'MEDDRA:10056710', 'MESH:D007849', 'NCI:C34760', 'OMIM:245800', 'ORDO:2377', 'SNOMEDCT_US_2022_09_01:232059000', 'UMLS_CUI:C0023138']",['DOID:225']
7619,1932,Angelman syndrome,"""A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance."" [url:https\://en.wikipedia.org/wiki/Angelman_syndrome, url:https\://ghr.nlm.nih.gov/condition/angelman-syndrome#genes]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:5810', 'ICD10CM:Q93.51', 'MESH:D017204', 'NCI:C75462', 'OMIM:105830', 'SNOMEDCT_US_2022_09_01:76880004', 'UMLS_CUI:C0162635']",['DOID:225']
7620,1933,Rubinstein-Taybi syndrome,"""A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes."" [url:http\://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome, url:http\://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7593', 'ICD10CM:Q87.2', 'MESH:D012415', 'NCI:C75466', 'OMIM:180849', 'OMIM:610543', 'OMIM:613684', 'ORDO:783', 'SNOMEDCT_US_2022_09_01:157032007', 'UMLS_CUI:C0035934']",['DOID:225']
7621,1934,dysostosis,"""A bone development disease that results in defective ossification of bone."" [url:http\://en.wikipedia.org/wiki/Dysostosis, url:http\://medical-dictionary.thefreedictionary.com/dysostosis]",['NCIthesaurus'],"['MESH:D004413', 'NCI:C34560', 'SNOMEDCT_US_2022_09_01:109420003', 'UMLS_CUI:C0013393']",['DOID:0080006']
7622,1935,Bardet-Biedl syndrome,"""A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases."" [url:http\://en.wikipedia.org/wiki/Bardet-Biedl_syndrome, url:http\://en.wikipedia.org/wiki/Ciliopathy, url:http\://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6866', 'ICD10CM:Q87.89', 'MESH:D020788', 'NCI:C118632', 'OMIM:PS209900', 'ORDO:110', 'SNOMEDCT_US_2022_09_01:5619004', 'UMLS_CUI:C0752166']",['DOID:225']
7626,1947,trichomoniasis,"""A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively."" [url:http\://en.wikipedia.org/wiki/Trichomoniasis]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:A59', 'ICD9CM:131', 'MEDDRA:10044620', 'MESH:D014245', 'NCI:C35720', 'SNOMEDCT_US_2022_09_01:56335008', 'UMLS_CUI:C0040921']",['DOID:2789']
7627,1949,cholecystitis,"""A cholangitis that is characterized by an inflammation that is located in the gallbladder."" [url:http\://en.wikipedia.org/wiki/Cholecystitis, url:https\://www.merriam-webster.com/dictionary/cholecystitis#medicalDictionary]","['DO_rare_slim', 'NCIthesaurus']","['GARD:30', 'ICD10CM:K81', 'ICD9CM:575.10', 'MESH:D002764', 'NCI:C34465', 'OMIM:600803', 'SNOMEDCT_US_2022_09_01:76581006', 'UMLS_CUI:C0008325']",['DOID:9446']
7628,1962,fallopian tube disease,"""A female reproductive system disease that is located_in the fallopian tube."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21415195]",['NCIthesaurus'],"['MESH:D005184', 'NCI:C26771', 'SNOMEDCT_US_2022_09_01:128134005', 'UMLS_CUI:C0015556']",['DOID:229']
7629,1963,fallopian tube carcinoma,"""A fallopian tube cancer that is located_in the fallopian tube."" [url:http\://www.cancer.gov/dictionary/?CdrID=45687]",['NCIthesaurus'],"['MESH:D005185', 'NCI:C3867', 'SNOMEDCT_US_2022_09_01:276870001', 'UMLS_CUI:C0238122']",['DOID:1964']
7630,1964,fallopian tube cancer,"""A female reproductive organ cancer that is located_in fallopian tube."" [url:http\://en.wikipedia.org/wiki/Fallopian_tube_cancer]","['DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['GARD:9162', 'ICD10CM:C57.0', 'ICD9CM:183.2', 'MESH:D005185', 'NCI:C3032', 'NCI:C7480', 'SNOMEDCT_US_2022_09_01:126916003', 'SNOMEDCT_US_2022_09_01:93794008', 'UMLS_CUI:C0015558', 'UMLS_CUI:C0153579']",['DOID:120']
7631,1965,fallopian tube leiomyosarcoma,"""A fallopian tube cancer that dervies_from smooth muscle cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20191300]",['NCIthesaurus'],"['NCI:C40128', 'UMLS_CUI:C1517116']",['DOID:1964']
7632,1967,leiomyosarcoma,"""A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis."" [url:http\://www.cancer.gov/dictionary/?CdrID=46027]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6880', 'ICDO:8890/3', 'MESH:D007890', 'NCI:C3158', 'SNOMEDCT_US_2022_09_01:443719001', 'UMLS_CUI:C0023269']",['DOID:4230']
7633,1969,cerebral palsy,"""A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance."" [url:http\://en.wikipedia.org/wiki/Cerebral_palsy, url:http\://www.brainandspinalcord.org/cerebral-palsy/index.html, url:http\://www.cerebralpalsy.org/what-is-cerebral-palsy/]","['DO_FlyBase_slim', 'NCIthesaurus']","['ICD10CM:G80', 'MESH:D002547', 'NCI:C34460', 'SNOMEDCT_US_2022_09_01:155024003', 'UMLS_CUI:C0007789']",['DOID:936']
7634,1970,fallopian tube carcinosarcoma,"""A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue."" [url:http\://en.wikipedia.org/wiki/Carcinosarcoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C40124', 'UMLS_CUI:C1517117']",['DOID:1964']
7635,1973,fallopian tube adenosarcoma,"""A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24557435]",['NCIthesaurus'],"['NCI:C40125', 'UMLS_CUI:C1517121']",['DOID:1970']
7636,1974,adenosarcoma,"""A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium."" [url:http\://en.wikipedia.org/wiki/Adenosarcoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8933/3', 'MESH:D018195', 'NCI:C9474', 'SNOMEDCT_US_2022_09_01:189804002', 'UMLS_CUI:C0001442']",['DOID:4236']
7637,1975,thymus lipoma,"""An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24736228]",['NCIthesaurus'],"['NCI:C6452', 'SNOMEDCT_US_2022_09_01:447137005', 'UMLS_CUI:C1336744']",['DOID:0060092']
7639,1984,rectal benign neoplasm,"""An intestinal benign neoplasm located_in the rectum."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK6994/]",['NCIthesaurus'],"['MESH:D012004', 'NCI:C3350', 'SNOMEDCT_US_2022_09_01:126847008', 'UMLS_CUI:C0034885']",['DOID:4610']
7642,1993,rectum cancer,"""A colorectal cancer that is located_in the rectum."" [url:http\://www.cancer.gov/dictionary?CdrID=529764]","['DO_cancer_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C20', 'ICD9CM:154.1', 'MESH:D012004', 'NCI:C7418', 'NCI:C9382', 'SNOMEDCT_US_2022_09_01:254582000', 'SNOMEDCT_US_2022_09_01:93984006', 'UMLS_CUI:C0007113', 'UMLS_CUI:C0949022']",['DOID:9256']
7643,1995,rectum sarcoma,"""A sarcoma and malignant tumor of rectum that is located_in the rectum."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23712252]",['NCIthesaurus'],"['NCI:C5548', 'UMLS_CUI:C1335688']",['DOID:1993']
7644,1996,rectum adenocarcinoma,"""A rectum cancer that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C9383', 'SNOMEDCT_US_2022_09_01:254582000', 'UMLS_CUI:C0149978']",['DOID:1993']
7649,2001,neuroma,"""A nervous system benign neoplasm that is characterized as a nerve tissue tumor."" [url:http\://en.wikipedia.org/wiki/Neuroma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9570/0', 'MESH:D009463', 'NCI:C3275', 'SNOMEDCT_US_2022_09_01:443892003', 'UMLS_CUI:C0027858']",['DOID:0060115']
7652,201,connective tissue cancer,"""A musculoskeletal system cancer that is located_in connective tissue."" [url:http\://en.wikipedia.org/wiki/Connective_tissue]",['TopNodes_DOcancerslim'],"['MESH:D009372', 'SNOMEDCT_US_2022_09_01:126598008', 'UMLS_CUI:C0027656']",['DOID:0060100']
7653,2012,Nezelof syndrome,"""A T cell deficiency that results from the disfunction or underdevelopment of the thymus."" [url:https\://en.wikipedia.org/wiki/Nezelof_syndrome, url:https\://meshb.nlm.nih.gov/record/ui?ui=C536288]",['DO_rare_slim'],"['ICD10CM:D81.4', 'ICD9CM:279.13', 'OMIM:242700', 'ORDO:83471', 'SNOMEDCT_US_2022_09_01:55602000', 'UMLS_CUI:C0152094']",['DOID:11200']
7655,2021,placenta cancer,"""A female reproductive organ cancer that is located_in the placenta."" [url:https\://www.medstarcancer.org/conditions/gynecologic-cancer/placenta-cancer/, url:https\://www.ncbi.nlm.nih.gov/pubmed/26156670\,]",['NCIthesaurus'],"['ICD10CM:C58', 'ICD9CM:181', 'NCI:C3555', 'SNOMEDCT_US_2022_09_01:188187004', 'UMLS_CUI:C0153572']",['DOID:120']
7656,2024,placental choriocarcinoma,"""A gestational choriocarcinoma that is located_in the placenta."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577684/]",['NCIthesaurus'],"['NCI:C8893', 'SNOMEDCT_US_2022_09_01:448401007', 'UMLS_CUI:C0855173']",['DOID:2025']
7657,2025,gestational choriocarcinoma,"""A choriocarcicoma that develops in the presence of a preceding gestational event."" [url:https\://en.wikipedia.org/wiki/Gestational_choriocarcinoma]",['NCIthesaurus'],"['NCI:C4646', 'SNOMEDCT_US_2022_09_01:1884006', 'UMLS_CUI:C0349557']",['DOID:3594']
7658,203,exostosis,"""A hyperostosis that involves formation of new bone on the surface of preexisting bone."" [url:http\://en.wikipedia.org/wiki/Exostosis, url:http\://medical-dictionary.thefreedictionary.com/exostosis]",['NCIthesaurus'],"['ICD10CM:M27.8', 'ICD9CM:726.91', 'MESH:D005096', 'NCI:C3029', 'SNOMEDCT_US_2022_09_01:80400009', 'UMLS_CUI:C1442903']",['DOID:205']
7659,2030,anxiety disorder,"""A cognitive disorder that involves an excessive, irrational dread of everyday situations."" [url:http\://www.nimh.nih.gov/health/topics/anxiety-disorders/index.shtml]","['DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:F41.9', 'MESH:D001008', 'NCI:C2878', 'OMIM:607834', 'SNOMEDCT_US_2022_09_01:65673007', 'UMLS_CUI:C0003469']",['DOID:1561']
7660,2033,communication disorder,"""A specific developmental disorder that involves specific developmental disorders of speech and language."" [url:http\://en.wikipedia.org/wiki/Communication_disorder]",['NCIthesaurus'],"['ICD10CM:F80.9', 'MESH:D003147', 'NCI:C2958', 'SNOMEDCT_US_2022_09_01:74825008', 'UMLS_CUI:C0009460']",['DOID:0060038']
7661,2034,encephalomalacia,"""A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system."" [url:https\://en.wikipedia.org/wiki/Cerebral_softening]",['NCIthesaurus'],"['MESH:D004678', 'NCI:C98920', 'SNOMEDCT_US_2022_09_01:58762006', 'UMLS_CUI:C0014068']",['DOID:936']
7663,2043,hepatitis B,"""A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice."" [url:http\://en.wikipedia.org/wiki/Hepatitis_B#Transmission, url:http\://www.cdc.gov/hepatitis/HBV/index.htm, url:http\://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf]","['DO_infectious_disease_slim', 'NCIthesaurus', 'sexually_transmitted_infectious_disease']","['EFO:0004197', 'MESH:D006509', 'NCI:C3097', 'SNOMEDCT_US_2022_09_01:66071002', 'UMLS_CUI:C0019163']",['DOID:934']
7665,2047,hepatitis D,"""A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma."" [url:http\://www.cdc.gov/hepatitis/HDV/index.htm, url:http\://www.who.int/csr/disease/hepatitis/whocdscsrncs20011/en/index3.html]",['DO_infectious_disease_slim'],"['MESH:D003699', 'SNOMEDCT_US_2022_09_01:424460009', 'UMLS_CUI:C0011226']",['DOID:934']
7666,2048,autoimmune hepatitis,"""An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells."" [url:http\://en.wikipedia.org/wiki/Autoimmune_hepatitis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5871', 'ICD9CM:571.42', 'MESH:D019693', 'NCI:C27778', 'SNOMEDCT_US_2022_09_01:16098491000119109', 'UMLS_CUI:C0241910', 'UMLS_CUI:C1332355']",['DOID:0060031']
7667,205,hyperostosis,"""A bone remodeling disease that results in an abnormal growth of located in bone."" [url:http\://en.wikipedia.org/wiki/Hyperostosis]",['NCIthesaurus'],"['ICD10CM:M89.3', 'MESH:D015576', 'NCI:C34712', 'SNOMEDCT_US_2022_09_01:13814009', 'UMLS_CUI:C0020492']",['DOID:0080005']
7669,2051,maxillary sinusitis,"""A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache."" [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html]",['NCIthesaurus'],"['ICD10CM:J32.0', 'MESH:D015523', 'NCI:C34809', 'SNOMEDCT_US_2022_09_01:275484005', 'UMLS_CUI:C0024959']",['DOID:0050127']
7671,2055,post-traumatic stress disorder,"""An anxiety disorder which results from a traumatic experience that results in psychological trauma."" [url:http\://en.wikipedia.org/wiki/Post-traumatic_stress_disorder]",['NCIthesaurus'],"['ICD10CM:F43.1', 'ICD9CM:309.81', 'MESH:D013313', 'NCI:C3389', 'SNOMEDCT_US_2022_09_01:192415000', 'UMLS_CUI:C0038436']",['DOID:2030']
7672,2058,chronic mucocutaneous candidiasis,"""A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp."" [url:http\://www.merck.com/mmpe/sec13/ch164/ch164f.html?qt=Chronic%20mucocutaneous%20candidiasis&alt=sh]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:12313', 'MESH:D002178', 'NCI:C34444', 'OMIM:114580', 'OMIM:212050', 'OMIM:607644', 'OMIM:613108', 'OMIM:613956', 'OMIM:614162', 'OMIM:615527', 'OMIM:616445', 'ORDO:1334', 'SNOMEDCT_US_2022_09_01:234568006', 'UMLS_CUI:C0006845']",['DOID:1508']
7673,2059,vulvar disease,"""A female reproductive system disease that is located_in the vulva."" [url:https\://en.wikipedia.org/wiki/Vulvar_disease]",['NCIthesaurus'],"['MESH:D014845', 'NCI:C27631', 'SNOMEDCT_US_2022_09_01:5089007', 'UMLS_CUI:C0042994']",['DOID:229']
7674,206,hereditary multiple exostoses,"""An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth."" [url:http\://atlasgeneticsoncology.org/Kprones/HeredMultExostosID10061.html, url:http\://en.wikipedia.org/wiki/Hereditary_multiple_exostoses, url:http\://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses, url:http\://www.mheresearchfoundation.org/, url:http\://www.wheelessonline.com/ortho/multiple_cartilaginous_exostoses_hereditary_exostosis]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:Q78.6', 'MESH:D005097', 'NCI:C5183', 'OMIM:133700', 'OMIM:133701', 'OMIM:600209', 'ORDO:321', 'SNOMEDCT_US_2022_09_01:254044004', 'UMLS_CUI:C0015306']",['DOID:203']
7675,2060,vulvar nodular hidradenoma,"""A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells."" [url:http\://www.pathologyoutlines.com/topic/skintumornonmelanocyticeccrineacrospiroma.html]",['NCIthesaurus'],"['NCI:C40312', 'UMLS_CUI:C1520091']",['DOID:0060109']
7677,2064,vulvar syringoma,"""A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching."" [url:https\://en.wikipedia.org/wiki/Syringoma, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588787/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190724/]",['NCIthesaurus'],"['NCI:C40311', 'UMLS_CUI:C1520099']",['DOID:0060109']
7679,2066,vulvar angiokeratoma,"""A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228019/]",['NCIthesaurus'],"['NCI:C8596', 'SNOMEDCT_US_2022_09_01:402841001', 'UMLS_CUI:C1274281']",['DOID:0060109']
7682,2072,vulvar squamous tumor,"""A vulva cancer that has_material_basis_in squamous tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24342664]",['NCIthesaurus'],"['NCI:C40283', 'UMLS_CUI:C1520097']",['DOID:1245']
7685,2075,minor vestibular glands adenoma,"""A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures."" [url:http\://atlasgeneticsoncology.org/Tumors/VulVaginaCarcID5274.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/14714720]",['NCIthesaurus'],"['NCI:C40301', 'UMLS_CUI:C1510791']",['DOID:0060088']
7686,2076,vulvar glandular tumor,"""A vulva cancer that has_material_basis_in glandular tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24342664]",['NCIthesaurus'],"['NCI:C40292', 'UMLS_CUI:C1520082']",['DOID:1245']
7689,2080,vulvar trichoepithelioma,"""A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236999/]",['NCIthesaurus'],"['NCI:C40314', 'UMLS_CUI:C1520100']",['DOID:0060109']
7691,2093,vulvar melanoma,"""A vulva cancer that has_material_basis_in melanocytes."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514586/]",['NCIthesaurus'],"['NCI:C40329', 'SNOMEDCT_US_2022_09_01:254896002', 'UMLS_CUI:C0241989']",['DOID:1245']
7693,2096,vulvar sarcoma,"""A vulva cancer that has_material_basis_in connective tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25816393]",['NCIthesaurus'],"['NCI:C40317', 'SNOMEDCT_US_2022_09_01:254897006', 'UMLS_CUI:C0238525']",['DOID:1245']
7694,2097,vulval Paget's disease,"""A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26971063]",['NCIthesaurus'],"['NCI:C4027', 'SNOMEDCT_US_2022_09_01:254898001', 'UMLS_CUI:C1275217']",['DOID:2098']
7695,2098,vulva adenocarcinoma,"""A vulva carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C6380', 'UMLS_CUI:C1336975']",['DOID:1294']
7697,2101,vulva squamous cell carcinoma,"""A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue."" [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma, url:http\://en.wikipedia.org/wiki/Vulvar_cancer#Squamous_cell_carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C4052', 'SNOMEDCT_US_2022_09_01:254895003', 'UMLS_CUI:C0280856']",['DOID:1294']
7698,2106,myotonia congenita,"""A muscle tissue disease that is characterised by slow muscle relaxation associated with hyperexcitation of the muscle fibres."" [url:http\://rarediseases.org/rare-diseases/myotonia-congenita/, url:http\://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=614, url:https\://medlineplus.gov/genetics/condition/myotonia-congenita/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:12301', 'ICD9CM:359.22', 'MESH:D009224', 'NCI:C84912', 'ORDO:614', 'UMLS_CUI:C0027127']",['DOID:66']
7699,2112,cystoisosporiasis,"""A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss."" [url:http\://www.dpd.cdc.gov/DPDx/HTML/Cystoisosporiasis.htm]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:A07.3', 'MESH:D021865', 'NCI:C4076', 'SNOMEDCT_US_2022_09_01:73034009', 'UMLS_CUI:C0311386']",['DOID:2113']
7700,2113,coccidiosis,"""A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection."" [url:http\://en.wikipedia.org/wiki/Coccidiosis]","['DO_infectious_disease_slim', 'NCIthesaurus']","['MESH:D003048', 'NCI:C34493', 'SNOMEDCT_US_2022_09_01:186125004', 'UMLS_CUI:C0009187']",['DOID:2789']
7702,2120,focal dermal hypoplasia,"""A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23."" [url:https\://rarediseases.info.nih.gov/diseases/6457/disease]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6457', 'MESH:D005489', 'NCI:C84715', 'OMIM:305600', 'ORDO:2092', 'SNOMEDCT_US_2022_09_01:205573006', 'UMLS_CUI:C0016395']",['DOID:225']
7703,2121,ectodermal dysplasia,"""A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings."" [url:https\://en.wikipedia.org/wiki/Ectodermal_dysplasia, url:https\://medlineplus.gov/ency/article/001469.htm, url:https\://www.omim.org/entry/305100]",['DO_rare_slim'],"['GARD:6317', 'ICD9CM:757.31', 'MESH:D004476', 'NCI:C84683', 'OMIM:PS305100', 'ORDO:79373', 'SNOMEDCT_US_2022_09_01:8654005', 'UMLS_CUI:C0013575']",['DOID:225']
7704,2122,pneumonic tularemia,"""A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing."" [url:http\://www.cdc.gov/tularemia/signssymptoms/]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'tick-borne_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A21.2', 'ICD9CM:021.2', 'SNOMEDCT_US_2022_09_01:186297007', 'UMLS_CUI:C0339946']",['DOID:2123']
7705,2123,tularemia,"""A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted by dog tick bite (Dermacentor variabilis), transmitted by deer flies (Chrysops sp) or transmitted by contact with infected animal tissues."" [url:http\://www.cdc.gov/tularemia/index.html]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'tick-borne_infectious_disease', 'zoonotic_infectious_disease']","['GARD:396', 'ICD9CM:021.8', 'SNOMEDCT_US_2022_09_01:186298002', 'UMLS_CUI:C0029835']",['DOID:0050338']
7706,2127,brain germinoma,"""A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells."" [url:https\://en.wikipedia.org/wiki/Germinoma]",['NCIthesaurus'],"['NCI:C6284', 'UMLS_CUI:C1332606']",['DOID:1319']
7707,2129,atypical teratoid rhabdoid tumor,"""A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system."" [url:http\://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor]","['DO_cancer_slim', 'DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['ICDO:9508/3', 'NCI:C6906', 'OMIM:609322', 'ORDO:99966', 'SNOMEDCT_US_2022_09_01:128792003', 'UMLS_CUI:C1266184']",['DOID:1319']
7708,2132,brain sarcoma,"""A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12170093]",['NCIthesaurus'],"['NCI:C5154', 'UMLS_CUI:C1332607']",['DOID:1319']
7709,2133,central nervous system sarcoma,"""A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm."" [url:https\://en.wikipedia.org/wiki/Sarcoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/12170093]",['NCIthesaurus'],"['NCI:C5153', 'UMLS_CUI:C1332892']",['DOID:3620']
7714,2142,urethra leiomyoma,"""An urethral benign neoplasm that derives_from smooth muscle cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141528/]",['NCIthesaurus'],"['NCI:C6171', 'UMLS_CUI:C1336888']",['DOID:730']
7715,2143,ovarian malignant mesothelioma,"""An ovarian cancer that derives_from mesothelial tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8764743]",['NCIthesaurus'],"['NCI:C40444', 'UMLS_CUI:C1518721']",['DOID:2394']
7716,2145,malignant ovarian cyst,"""An ovarian cancer that is characterized by cystic structure."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23627408]",['NCIthesaurus'],"['NCI:C3843', 'UMLS_CUI:C0235770']",['DOID:2394']
7717,2146,ovary sarcoma,"""An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21740740]",['NCIthesaurus'],"['NCI:C8267', 'SNOMEDCT_US_2022_09_01:423627007', 'UMLS_CUI:C0280746']",['DOID:2394']
7718,2148,tuberculous oophoritis,"""An urogenital tuberculosis that results_in inflammtion located_in ovary."" [url:https\://www1.cgmh.org.tw/intr/intr5/c6700/OBGYN/f/web/Oophoritis/index.htm]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD10CM:A18.17', 'ICD9CM:016.6', 'SNOMEDCT_US_2022_09_01:186242002', 'UMLS_CUI:C0152828']",['DOID:2149']
7719,2149,urogenital tuberculosis,"""An extrapulmonary tuberculosis that is located_in urogenital system."" [url:http\://en.wikipedia.org/wiki/Urogenital_tuberculosis]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD10CM:A18.1', 'ICD9CM:016', 'MESH:D014401', 'SNOMEDCT_US_2022_09_01:4445009', 'UMLS_CUI:C0041333']",['DOID:0050598']
7720,2150,ovarian lymphoma,"""An ovarian cancer that arises_from lymphocytes."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23905454]",['NCIthesaurus'],"['NCI:C40021', 'UMLS_CUI:C1518720']",['DOID:2394']
7721,2151,malignant ovarian surface epithelial-stromal neoplasm,"""An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary."" [url:https\://www.sciencedirect.com/science/article/pii/0046817791902054]",['NCIthesaurus'],"['NCI:C40026', 'UMLS_CUI:C1518236']",['DOID:2152']
7722,2152,ovary epithelial cancer,"""An ovarian cancer that is derives_from ovarian surface epithelium."" [url:http\://en.wikipedia.org/wiki/Ovarian_cancer, url:http\://en.wikipedia.org/wiki/Surface_epithelial-stromal_tumor]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C4381', 'SNOMEDCT_US_2022_09_01:237057005', 'UMLS_CUI:C0341823']",['DOID:2394']
7723,2153,ovarian Wilms' cancer,"""A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18260155]",['NCIthesaurus'],"['NCI:C40443', 'UMLS_CUI:C1518746']",['DOID:2394']
7724,2154,nephroblastoma,"""A kidney cancer that affects the kidneys and typically located_in children."" [url:http\://en.wikipedia.org/wiki/Wilms%27_tumor]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8960/3', 'MESH:D009396', 'NCI:C27730', 'NCI:C3267', 'NCI:C6180', 'OMIM:194070', 'SNOMEDCT_US_2022_09_01:25081006', 'UMLS_CUI:C0027708', 'UMLS_CUI:C1332219', 'UMLS_CUI:C1333015']",['DOID:263']
7726,2156,ovarian germ cell cancer,"""An ovarian cancer that originates in the germ (egg) cells of the ovary."" [url:http\://www.cancer.gov/cancertopics/pdq/treatment/ovarian-germ-cell/Patient]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9330', 'NCI:C3873', 'OMIM:603737', 'SNOMEDCT_US_2022_09_01:237059008', 'UMLS_CUI:C0238324']",['DOID:2394']
7727,216,dental caries,"""A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel."" [url:https\://www.nidcr.nih.gov/health-info/tooth-decay]",['NCIthesaurus'],"['EFO:0003819', 'ICD10CM:K02', 'ICD10CM:K02.6', 'ICD9CM:521.0', 'ICD9CM:521.07', 'MESH:D003731', 'NCI:C52593', 'SNOMEDCT_US_2022_09_01:155632007', 'UMLS_CUI:C0011334', 'UMLS_CUI:C1456145']",['DOID:214']
7730,2170,vaginitis,"""A vaginal disease that is characterized by inflammation of the vagina."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21524046]",['NCIthesaurus'],"['ICD9CM:616.1', 'MESH:D014627', 'NCI:C26911', 'SNOMEDCT_US_2022_09_01:198212006', 'SNOMEDCT_US_2022_09_01:393596009', 'UMLS_CUI:C0042267', 'UMLS_CUI:C0042268']",['DOID:121']
7732,2174,ocular cancer,"""A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye."" [url:http\://en.wikipedia.org/wiki/Eye, url:http\://en.wikipedia.org/wiki/Eye_neoplasm]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD9CM:190.8', 'MESH:D005134', 'NCI:C3030', 'SNOMEDCT_US_2022_09_01:126995000', 'SNOMEDCT_US_2022_09_01:188277006', 'UMLS_CUI:C0015414', 'UMLS_CUI:C0153632']",['DOID:0060116']
7736,2187,amelogenesis imperfecta,"""A dental enamel hypoplasia characterized by abnormal enamel formation."" [url:http\://en.wikipedia.org/wiki/Amelogenesis_imperfecta, url:http\://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/501/viewAbstract]",['DO_rare_slim'],"['GARD:5791', 'ICD10CM:K00.5', 'MESH:D000567', 'OMIM:PS104500', 'ORDO:88661', 'SNOMEDCT_US_2022_09_01:78494001', 'UMLS_CUI:C0002452']",['DOID:693']
7737,219,colon cancer,"""A colorectal cancer that is located_in the colon."" [url:http\://www.cancer.gov/dictionary?CdrID=44237]","['DO_cancer_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C18', 'ICD9CM:153', 'MESH:D003110', 'NCI:C9242', 'SNOMEDCT_US_2022_09_01:363406005', 'UMLS_CUI:C0007102']",['DOID:9256']
7739,2211,factor XIII deficiency,"""A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor."" [url:http\://omim.org/entry/613225, url:http\://omim.org/entry/613235, url:https\://ghr.nlm.nih.gov/condition/factor-xiii-deficiency#inheritance]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10766', 'MESH:D005177', 'NCI:C98941', 'OMIM:613225', 'OMIM:613235', 'SNOMEDCT_US_2022_09_01:50189006', 'UMLS_CUI:C0015530']",['DOID:1247']
7741,2215,factor VII deficiency,"""A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade."" [url:http\://omim.org/entry/227500, url:https\://ghr.nlm.nih.gov/condition/factor-vii-deficiency#genes]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2238', 'ICD10CM:D68.2', 'MESH:D005168', 'NCI:C131631', 'SNOMEDCT_US_2022_09_01:154820003', 'UMLS_CUI:C0015503']",['DOID:1247']
7743,2217,Bernard-Soulier syndrome,"""A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10706630, url:https\://www.ncbi.nlm.nih.gov/pubmed/8481514, url:https\://www.ncbi.nlm.nih.gov/pubmed/8703016, url:https\://www.ncbi.nlm.nih.gov/pubmed/9616133]","['DO_rare_slim', 'NCIthesaurus']","['MESH:D001606', 'NCI:C84595', 'OMIM:231200', 'ORDO:274', 'SNOMEDCT_US_2022_09_01:54569005', 'UMLS_CUI:C0005129']",['DOID:1247']
7745,2219,Glanzmann's thrombasthenia,"""A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16463284, url:https\://www.ncbi.nlm.nih.gov/pubmed/2014236, url:https\://www.ncbi.nlm.nih.gov/pubmed/9160670]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2478', 'ICD10CM:D69.1', 'MESH:D013915', 'NCI:C61249', 'OMIM:273800', 'ORDO:849', 'SNOMEDCT_US_2022_09_01:32942005', 'UMLS_CUI:C0040015']",['DOID:1247']
7747,2222,factor X deficiency,"""A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood."" [url:https\://rarediseases.org/rare-diseases/factor-x-deficiency/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6404', 'MESH:D005171', 'NCI:C131632', 'SNOMEDCT_US_2022_09_01:76642003', 'UMLS_CUI:C0015519']",['DOID:1247']
7749,2224,essential thrombocythemia,"""A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets."" [url:http\://www.webmd.com/a-to-z-guides/thrombocythemia-essential]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6594', 'ICD10CM:D47.3', 'ICD9CM:238.71', 'ICDO:9962/3', 'MESH:D013920', 'NCI:C3407', 'OMIM:187950', 'OMIM:601977', 'OMIM:614521', 'ORDO:3318', 'ORDO:71493', 'SNOMEDCT_US_2022_09_01:234499005', 'UMLS_CUI:C0040028']",['DOID:2226']
7750,2226,myeloproliferative neoplasm,"""A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood."" [url:http\://www.bloodjournal.org/content/114/5/937.long, url:http\://www.cancer.gov/cancertopics/types/myeloproliferative]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:D47.1', 'ICDO:9960/3', 'NCI:C4345', 'SNOMEDCT_US_2022_09_01:115248004', 'UMLS_CUI:C1292778']",['DOID:0070004']
7751,2228,thrombocytosis,"""A blood platelet disease that is characterized by the presence of high platelet counts in the blood."" [url:http\://en.wikipedia.org/wiki/Thrombocytosis, url:http\://my.clevelandclinic.org/disorders/thrombocytosis/hic_thrombocytosis.aspx]",['NCIthesaurus'],"['ICD10CM:D75.83', 'MESH:D013922', 'NCI:C35530', 'SNOMEDCT_US_2022_09_01:165557006', 'UMLS_CUI:C0836924']",['DOID:2218']
7752,2229,factor XI deficiency,"""A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2."" [url:https\://ghr.nlm.nih.gov/condition/factor-xi-deficiency, url:https\://www.omim.org/entry/612416]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9670', 'ICD10CM:D68.1', 'ICD9CM:286.2', 'MESH:D005173', 'NCI:C84705', 'OMIM:612416', 'SNOMEDCT_US_2022_09_01:49762007', 'UMLS_CUI:C0015523']",['DOID:1247']
7754,2231,factor XII deficiency,"""A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33."" [url:http\://omim.org/entry/234000, url:https\://rarediseases.org/rare-diseases/factor-xii-deficiency/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6558', 'MESH:D005175', 'NCI:C131740', 'OMIM:234000', 'ORDO:330', 'SNOMEDCT_US_2022_09_01:46981006', 'UMLS_CUI:C0015526']",['DOID:1247']
7755,2234,focal epilepsy,"""An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response."" [url:http\://en.wikipedia.org/wiki/Epilepsy, url:http\://en.wikipedia.org/wiki/Focal_epilepsy, url:http\://www.aafp.org/afp/2001/0701/p91.html]",['NCIthesaurus'],"['MESH:D004828', 'NCI:C122812', 'SNOMEDCT_US_2022_09_01:230381009', 'UMLS_CUI:C0014547']",['DOID:1826']
7756,2235,prothrombin deficiency,"""A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11."" [url:https\://ghr.nlm.nih.gov/condition/prothrombin-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/30306070, url:https\://www.omim.org/entry/613679, url:https\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=325]","['DO_rare_slim', 'NCIthesaurus']","['NCI:C26799', 'OMIM:613679', 'ORDO:325', 'UMLS_CUI:C0272317']",['DOID:2452']
7757,2236,congenital afibrinogenemia,"""A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I)."" [url:https\://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia#synonyms]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5761', 'MESH:D000347', 'NCI:C98130', 'OMIM:202400', 'SNOMEDCT_US_2022_09_01:278504009', 'UMLS_CUI:C0001733']",['DOID:1247']
7760,224,transient cerebral ischemia,"""A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death."" [url:https\://en.wikipedia.org/wiki/Transient_ischemic_attack]",['NCIthesaurus'],"['ICD10CM:G45.9', 'MESH:D002546', 'NCI:C50781', 'SNOMEDCT_US_2022_09_01:195196001', 'UMLS_CUI:C0007787']",['DOID:2316']
7762,225,syndrome,"""A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syndrome]","['DO_AGR_slim', 'DO_CFDE_slim', 'DO_GXD_slim', 'DO_MGI_slim', 'NCIthesaurus']","['MESH:D013577', 'NCI:C28193', 'SNOMEDCT_US_2022_09_01:64572001', 'UMLS_CUI:C0039082']",['DOID:4']
7764,2253,cervix disease,"""An uterine disease that is located_in the cervix."" [url:https\://www.mdedge.com/obgmanagement/article/136739/gynecology/2017-update-cervical-disease]",['NCIthesaurus'],"['MESH:D002577', 'NCI:C40241', 'SNOMEDCT_US_2022_09_01:63339007', 'UMLS_CUI:C0007867']",['DOID:345']
7765,2256,osteochondrodysplasia,"""A bone development disease that results_in defective development of cartilage or bone."" [url:http\://en.wikipedia.org/wiki/Osteochondrodysplasia]",['NCIthesaurus'],"['ICD10CM:Q78.9', 'ICD9CM:756.4', 'MESH:D010009', 'NCI:C34466', 'NCI:C84978', 'SNOMEDCT_US_2022_09_01:205510001', 'SNOMEDCT_US_2022_09_01:67988000', 'UMLS_CUI:C0008449', 'UMLS_CUI:C0029422']",['DOID:0080006']
7767,2272,vulvovaginal candidiasis,"""A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge."" [url:http\://en.wikipedia.org/wiki/Vulvovaginal_candidiasis, url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B37.3', 'ICD9CM:112.1', 'MESH:D002181', 'NCI:C2914', 'SNOMEDCT_US_2022_09_01:154404004', 'UMLS_CUI:C0700345']",['DOID:1508']
7768,2273,vulvovaginitis,"""A female reproductive system disease that is characterized by inflammation of the vagina and vulva."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26001874]",['NCIthesaurus'],"['ICD10CM:N76.0', 'MESH:D014848', 'NCI:C35131', 'SNOMEDCT_US_2022_09_01:155981006', 'UMLS_CUI:C0042998']",['DOID:229']
7769,2275,pharyngitis,"""An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever."" [url:http\://en.wikipedia.org/wiki/Pharyngitis, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A5016]",['NCIthesaurus'],"['ICD10CM:J02', 'ICD9CM:462', 'ICD9CM:472', 'ICD9CM:478.20', 'MESH:D010608', 'MESH:D010612', 'NCI:C26850', 'NCI:C26851', 'NCI:C34355', 'SNOMEDCT_US_2022_09_01:195654001', 'SNOMEDCT_US_2022_09_01:195763009', 'SNOMEDCT_US_2022_09_01:37616004', 'SNOMEDCT_US_2022_09_01:75860007', 'UMLS_CUI:C0001344', 'UMLS_CUI:C0031345', 'UMLS_CUI:C0031350', 'UMLS_CUI:C0155824']",['DOID:974']
7770,2277,gonadal disease,"""An endocrine system disease that is located_in the gonads."" [url:https\://www.nature.com/subjects/gonadal-disorders]",['NCIthesaurus'],"['MESH:D006058', 'NCI:C26786', 'UMLS_CUI:C0018050']",['DOID:28']
7771,2280,hidradenitis suppurativa,"""A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402905/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6658', 'ICD10CM:L73.2', 'MESH:D017497', 'NCI:C128429', 'OMIM:142690', 'OMIM:613736', 'OMIM:613737', 'SNOMEDCT_US_2022_09_01:201204008', 'UMLS_CUI:C0162836']",['DOID:2282']
7772,2282,hidradenitis,"""A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain."" [url:https\://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf?dictionary=NCI_Thesaurus&version=18.09d&code=C112190&ns=ncit&type=properties&key=null&b=1&n=0&vse=null]",['NCIthesaurus'],"['ICD9CM:705.83', 'MESH:D016575', 'NCI:C112190', 'SNOMEDCT_US_2022_09_01:267866004', 'UMLS_CUI:C0085160']",['DOID:1383']
7776,2297,leptospirosis,"""A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly."" [url:http\://en.wikipedia.org/wiki/Leptospirosis]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:7881', 'ICD10CM:A27', 'ICD10CM:A27.0', 'ICD9CM:100', 'ICD9CM:100.0', 'MESH:D007922', 'MESH:D014895', 'NCI:C84825', 'SNOMEDCT_US_2022_09_01:154391003', 'SNOMEDCT_US_2022_09_01:398067003', 'UMLS_CUI:C0023364', 'UMLS_CUI:C0043102']",['DOID:0050338']
7777,230,lateral sclerosis,"""A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs."" [url:http\://en.wikipedia.org/wiki/Primary_lateral_sclerosis, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/645/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:G12.23', 'ICD9CM:335.24', 'MESH:D016472', 'NCI:C129933', 'OMIM:611637', 'ORDO:35689', 'SNOMEDCT_US_2022_09_01:81211007', 'UMLS_CUI:C0154682']",['DOID:231']
7778,2300,spondylolysis,"""A bone structure disease that involves a defect located_in lumbar vertebral column."" [url:http\://en.wikipedia.org/wiki/Spondylolysis, url:http\://my.clevelandclinic.org/disorders/back_pain/hic_spondylolysis.aspx, url:http\://orthoinfo.aaos.org/topic.cfm?topic=a00053, url:http\://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm]",['NCIthesaurus'],"['ICD10CM:M43.0', 'MESH:D013169', 'NCI:C35034', 'SNOMEDCT_US_2022_09_01:203688008', 'UMLS_CUI:C0038018']",['DOID:0080010']
7781,231,motor neuron disease,"""A neurodegenerative disease that is located_in the motor neurons."" [url:http\://en.wikipedia.org/wiki/Motor_neuron_disease]",['DO_FlyBase_slim'],"['ICD10CM:G12.2', 'ICD9CM:335.2', 'MESH:D016472', 'SNOMEDCT_US_2022_09_01:37340000', 'UMLS_CUI:C0085084']",['DOID:1289']
7782,2312,nocardiosis,"""An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy."" [url:http\://en.wikipedia.org/wiki/Nocardiosis]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-positive_bacterial_infectious_disease']","['GARD:7210', 'ICD10CM:A43', 'MESH:D009617', 'NCI:C171147', 'SNOMEDCT_US_2022_09_01:29227009', 'UMLS_CUI:C0028242']",['DOID:0050340']
7786,2326,gastroenteritis,"""A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen."" [url:http\://www.merck.com/mmhe/sec09/ch122/ch122a.html]",['NCIthesaurus'],"['ICD10CM:K52.9', 'MESH:D005759', 'NCI:C34632', 'SNOMEDCT_US_2022_09_01:154278002', 'UMLS_CUI:C0017160']",['DOID:77']
7787,2327,viral gastritis,"""A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting."" [url:http\://www.merck.com/mmpe/sec02/ch013/ch013c.html]","['DO_infectious_disease_slim', 'NCIthesaurus']","['NCI:C27184', 'SNOMEDCT_US_2022_09_01:285344007', 'UMLS_CUI:C0563238']",['DOID:4029']
7788,2338,mandibular cancer,"""A jaw cancer and mandibular disease that affects your lower jawbone."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C35178]",['NCIthesaurus'],"['ICD10CM:C41.1', 'ICD9CM:170.1', 'MESH:D008339', 'NCI:C35178', 'SNOMEDCT_US_2022_09_01:126551000', 'SNOMEDCT_US_2022_09_01:448668007', 'UMLS_CUI:C0024694', 'UMLS_CUI:C0153511']",['DOID:1862']
7789,2339,Crouzon syndrome,"""A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene."" [url:http\://en.wikipedia.org/wiki/Crouzon_syndrome, url:http\://ghr.nlm.nih.gov/condition/crouzon-syndrome, url:http\://rarediseases.about.com/cs/crouzonsyndrome/a/011804.htm, url:https\://www.faces-cranio.org/crouzon]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6206', 'ICD10CM:Q75.1', 'MESH:D003394', 'NCI:C84653', 'OMIM:123500', 'SNOMEDCT_US_2022_09_01:28861008', 'UMLS_CUI:C0010273']",['DOID:2340']
7790,234,colon adenocarcinoma,"""A colon carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:D003110', 'NCI:C4349', 'SNOMEDCT_US_2022_09_01:255082000', 'UMLS_CUI:C0338106']",['DOID:1520']
7791,2340,craniosynostosis,"""A synostosis that results_in premature fusion located_in skull."" [url:http\://en.wikipedia.org/wiki/Craniosynostosis, url:http\://www.mayoclinic.com/health/craniosynostosis/DS00959, url:http\://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001590.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6209', 'ICD10CM:Q75.0', 'MESH:D003398', 'NCI:C84655', 'OMIM:123100', 'OMIM:182212', 'OMIM:600593', 'OMIM:600775', 'OMIM:604757', 'OMIM:615314', 'ORDO:1531', 'SNOMEDCT_US_2022_09_01:205414007', 'UMLS_CUI:C0010278']",['DOID:11971']
7797,2349,arteriosclerosis,"""An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries."" [url:http\://en.wikipedia.org/wiki/Arteriosclerosis]",['NCIthesaurus'],"['ICD10CM:I70', 'MESH:D001161', 'NCI:C34398', 'SNOMEDCT_US_2022_09_01:195251000', 'UMLS_CUI:C0003850']",['DOID:0050828']
7798,235,colonic benign neoplasm,"""An intestinal benign neoplasm that is located_in the colon."" [url:http\://en.wikipedia.org/wiki/Benign_tumor]",['NCIthesaurus'],"['MESH:D003110', 'NCI:C2953', 'SNOMEDCT_US_2022_09_01:126838000', 'UMLS_CUI:C0009375']",['DOID:4610']
7800,2352,hemochromatosis,"""A metal metabolism disorder characterized by the accumulation of iron in various organs of the body."" [url:http\://en.wikipedia.org/wiki/HFE_hereditary_haemochromatosis, url:http\://ghr.nlm.nih.gov/condition/hemochromatosis, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/13/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:E83.11', 'MESH:D006432', 'NCI:C82892', 'OMIM:231100', 'OMIM:PS235200', 'ORDO:139498', 'SNOMEDCT_US_2022_09_01:86781004', 'UMLS_CUI:C0018995']",['DOID:896']
7801,2354,myelophthisic anemia,"""An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas."" [url:http\://en.wikipedia.org/wiki/Myelophthisic_anemia]",['NCIthesaurus'],"['ICD10CM:D61.82', 'MESH:D000750', 'SNOMEDCT_US_2022_09_01:2694001', 'UMLS_CUI:C0002890']",['DOID:12449']
7802,2355,anemia,"""A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells."" [url:http\://en.wikipedia.org/wiki/Anemia, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/anemia/]",['NCIthesaurus'],"['EFO:0004272', 'ICD10CM:D64.9', 'ICD9CM:285.9', 'MESH:D000740', 'NCI:C2869', 'SNOMEDCT_US_2022_09_01:64593003', 'UMLS_CUI:C0002871']",['DOID:74']
7805,2365,West Nile encephalitis,"""A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, Aedes, or Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis."" [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm, url:http\://www.cdc.gov/ncidod/dvbid/westnile/wnv_factsheet.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'zoonotic_infectious_disease']","['GARD:9959', 'ICD10CM:A92.31', 'ICD9CM:066.41', 'MESH:D014901', 'SNOMEDCT_US_2022_09_01:392662004', 'UMLS_CUI:C0751583']",['DOID:934']
7806,2366,West Nile fever,"""A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting."" [url:http\://www.cdc.gov/ncidod/eid/vol5no5/hubalek.htm, url:http\://www.cfsph.iastate.edu/FastFacts/pdfs/west_nile_fever_F.pdf]","['DO_infectious_disease_slim', 'zoonotic_infectious_disease']","['ICD10CM:A92.3', 'ICD9CM:066.4', 'MESH:D014901', 'SNOMEDCT_US_2022_09_01:12381007', 'UMLS_CUI:C0043124']",['DOID:934']
7808,2368,gangliosidosis,"""A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides."" [url:https\://en.wikipedia.org/wiki/Gangliosidosis]",['DO_rare_slim'],"['GARD:12510', 'ICD10CM:E75.10', 'MESH:D005733', 'ORDO:309144', 'SNOMEDCT_US_2022_09_01:50967008', 'UMLS_CUI:C0017083']",['DOID:1927']
7809,2373,hereditary elliptocytosis,"""A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present."" [url:http\://en.wikipedia.org/wiki/Hereditary_elliptocytosis, url:http\://www.merckmanuals.com/professional/hematology_and_oncology/anemias_caused_by_hemolysis/hereditary_spherocytosis_and_hereditary_elliptocytosis.html]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6621', 'ICD10CM:D58.1', 'ICD9CM:282.1', 'MESH:D004612', 'NCI:C35882', 'OMIM:130600', 'OMIM:611804', 'ORDO:288', 'SNOMEDCT_US_2022_09_01:154801000', 'UMLS_CUI:C0013902']",['DOID:74']
7810,2377,multiple sclerosis,"""A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring."" [url:http\://en.wikipedia.org/wiki/Multiple_sclerosis, url:https\://ghr.nlm.nih.gov/condition/multiple-sclerosis]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0003885', 'GARD:10255', 'ICD10CM:G35', 'ICD9CM:340', 'MESH:D009103', 'NCI:C3243', 'OMIM:612594', 'OMIM:612595', 'OMIM:612596', 'SNOMEDCT_US_2022_09_01:155023009', 'UMLS_CUI:C0026769']",['DOID:3213']
7813,2382,kernicterus,"""A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction."" [url:https\://en.wikipedia.org/wiki/Kernicterus, url:https\://www.nlm.nih.gov/medlineplus/ency/article/007309.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6830', 'ICD10CM:P57', 'MESH:D007647', 'NCI:C84799', 'SNOMEDCT_US_2022_09_01:157135006', 'UMLS_CUI:C0022610']",['DOID:936']
7814,2383,neonatal jaundice,"""A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant."" [url:http\://en.wikipedia.org/wiki/Neonatal_jaundice, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001559.htm]",['NCIthesaurus'],"['ICD10CM:P59.9', 'MESH:D007567', 'NCI:C99246', 'SNOMEDCT_US_2022_09_01:299968002', 'UMLS_CUI:C0022353']",['DOID:10123']
7818,2394,ovarian cancer,"""A female reproductive organ cancer that is located_in the ovary."" [url:http\://www.cancer.gov/dictionary?CdrID=445074]","['DO_cancer_slim', 'DO_CFDE_slim', 'DO_FlyBase_slim', 'DO_RAD_slim', 'DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['GARD:7295', 'ICD10CM:C56', 'ICD9CM:183.0', 'MESH:D010051', 'NCI:C4984', 'NCI:C7431', 'OMIM:167000', 'OMIM:607893', 'ORDO:213500', 'ORDO:213517', 'SNOMEDCT_US_2022_09_01:123843001', 'SNOMEDCT_US_2022_09_01:372117006', 'SNOMEDCT_US_2022_09_01:93934004', 'UMLS_CUI:C0919267', 'UMLS_CUI:C1140680', 'UMLS_CUI:C1299247']",['DOID:120']
7820,2401,clitoris cancer,"""A vulva cancer that is located_in the clitoris."" [url:https\://scialert.net/fulltext/?doi=ijcr.2008.110.126]",['NCIthesaurus'],"['ICD10CM:C51.2', 'ICD9CM:184.3', 'NCI:C3557', 'NCI:C9362', 'SNOMEDCT_US_2022_09_01:93758009', 'UMLS_CUI:C0153589', 'UMLS_CUI:C1333070']",['DOID:1245']
7821,2409,rhinosporidiosis,"""A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed."" [url:https\://www.sciencedirect.com/science/article/abs/pii/S2213219817305093?via%3Dihub]",['DO_infectious_disease_slim'],"['ICD10CM:B48.1', 'ICD9CM:117.0', 'MESH:D012227', 'SNOMEDCT_US_2022_09_01:18140003', 'UMLS_CUI:C0035469']",['DOID:0050291']
7825,2426,gangliocytoma,"""A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells."" [url:https\://link.springer.com/chapter/10.1007/978-1-4419-1062-2_18, url:https\://radiopaedia.org/articles/gangliocytoma, url:https\://rarediseases.info.nih.gov/diseases/10638/gangliocytoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:10638', 'ICDO:9492/0', 'MESH:D005729', 'NCI:C6934', 'SNOMEDCT_US_2021_09_01:128919000']",['DOID:0060090']
7827,2431,glomus tumor,"""A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body."" [url:https\://en.wikipedia.org/wiki/Glomus_tumor]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8711/0', 'MESH:D005918', 'NCI:C3060', 'SNOMEDCT_US_2022_09_01:189193002', 'UMLS_CUI:C0017653']",['DOID:3850']
7832,2441,frontal sinus squamous cell carcinoma,"""A squamous cell carcinoma that is located_in the frontal sinus."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22169549]",['NCIthesaurus'],"['NCI:C6067', 'UMLS_CUI:C1333646']",['DOID:1360']
7834,2449,acromegaly,"""A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb."" [url:http\://en.wikipedia.org/wiki/Acromegaly, url:http\://www.acromegaly.org/, url:http\://www.mayoclinic.com/health/acromegaly/DS00478, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000321.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5725', 'MESH:D000172', 'NCI:C84533', 'SNOMEDCT_US_2022_09_01:154698000', 'UMLS_CUI:C0001206']",['DOID:2444']
7836,2451,protein S deficiency,"""A thrombophilia that is characterized by increased risk of developing abnormal blood clots."" [url:https\://medlineplus.gov/genetics/condition/protein-s-deficiency/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4524', 'ICD10CM:D68.59', 'MESH:D018455', 'NCI:C99026', 'SNOMEDCT_US_2022_09_01:1563006', 'UMLS_CUI:C0242666']",['DOID:2452']
7837,2452,thrombophilia,"""A blood coagulation disease that is characterized by an increased tendency to form clots."" [url:https\://en.wikipedia.org/wiki/Thrombophilia, url:https\://www.nhs.uk/conditions/thrombophilia/]",['NCIthesaurus'],"['ICD10CM:D68.59', 'MESH:D019851', 'NCI:C84479', 'OMIM:PS188050', 'SNOMEDCT_US_2022_09_01:191302007', 'UMLS_CUI:C0398623']",['DOID:1247']
7839,2456,blepharoconjunctivitis,"""A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis."" [url:http\://en.wikipedia.org/wiki/Conjunctivitis]",['NCIthesaurus'],"['ICD10CM:H10.5', 'ICD9CM:372.2', 'NCI:C34430', 'SNOMEDCT_US_2022_09_01:155164001', 'UMLS_CUI:C0005743']",['DOID:9423']
7844,2468,psychotic disorder,"""A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality."" [url:http\://www.nlm.nih.gov/medlineplus/psychoticdisorders.html]",['DO_RAD_slim'],"['EFO:0000677', 'ICD9CM:298.8', 'UMLS_CUI:C0029516']",['DOID:1561']
7845,2473,opportunistic mycosis,"""A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices."" [url:http\://www.mycology.adelaide.edu.au/Mycoses/, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006]",['DO_infectious_disease_slim'],"['ICD9CM:118', 'SNOMEDCT_US_2022_09_01:78999002', 'UMLS_CUI:C0029119']",['DOID:0050136']
7848,2476,hereditary spastic paraplegia,"""A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs."" [url:http\://en.wikipedia.org/wiki/Familial_spastic_paraplegia]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:6637', 'ICD10CM:G11.4', 'ICD9CM:334.1', 'MESH:D015419', 'NCI:C140267', 'OMIM:PS303350', 'SNOMEDCT_US_2022_09_01:267692008', 'UMLS_CUI:C0037773']",['DOID:607']
7849,2477,motor peripheral neuropathy,"""A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves."" [url:https\://www.ninds.nih.gov/health-information/disorders/peripheral-neuropathy]",['NCIthesaurus'],"['ICD10CM:G60.0', 'MESH:D015417', 'NCI:C3500', 'SNOMEDCT_US_2022_09_01:128202008', 'UMLS_CUI:C0027888']",['DOID:870']
7851,248,trachea leiomyoma,"""A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26026331]",['NCIthesaurus'],"['MESH:D014134', 'NCI:C3419', 'NCI:C6049', 'SNOMEDCT_US_2022_09_01:126703006', 'UMLS_CUI:C0040582', 'UMLS_CUI:C1336772']",['DOID:0050621']
7854,2491,sensory peripheral neuropathy,"""A neuropathy that involves damage to nerves of the peripheral nervous system."" [url:https\://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061]",['NCIthesaurus'],"['ICD9CM:356.2', 'MESH:D009477', 'NCI:C3501', 'SNOMEDCT_US_2022_09_01:193163001', 'SNOMEDCT_US_2022_09_01:95662005', 'UMLS_CUI:C0151313', 'UMLS_CUI:C0699739']",['DOID:870']
7860,2508,Takayasu's arteritis,"""A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body."" [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001250.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7730', 'ICD10CM:M31.4', 'ICD9CM:446.7', 'MESH:D001015', 'MESH:D013625', 'NCI:C34391', 'NCI:C35062', 'OMIM:207600', 'SNOMEDCT_US_2022_09_01:359789008', 'SNOMEDCT_US_2022_09_01:42153001', 'UMLS_CUI:C0003490', 'UMLS_CUI:C0039263']",['DOID:865']
7862,2510,Kluver-Bucy syndrome,"""An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior."" [url:http\://en.wikipedia.org/wiki/Kl%C3%BCver%E2%80%93Bucy_syndrome, url:http\://www.ninds.nih.gov/disorders/kluver_bucy/kluver_bucy.htm]",['NCIthesaurus'],"['MESH:D020232', 'NCI:C84802', 'SNOMEDCT_US_2022_09_01:10651001', 'UMLS_CUI:C0270707']",['DOID:10937']
7863,2512,nevoid basal cell carcinoma syndrome,"""A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities."" [url:https\://medlineplus.gov/genetics/condition/gorlin-syndrome/, url:https\://pubmed.ncbi.nlm.nih.gov/11932998/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7166', 'MEDDRA:10062804', 'MESH:D001478', 'NCI:C2892', 'OMIM:PS109400', 'ORDO:377', 'SNOMEDCT_US_2022_09_01:69408002', 'UMLS_CUI:C0004779']",['DOID:225']
7864,2513,basal cell carcinoma,"""A skin carcinoma affecting basal cells."" [url:http\://en.wikipedia.org/wiki/Basal-cell_carcinoma]","['DO_cancer_slim', 'DO_RAD_slim', 'NCIthesaurus']","['EFO:0004193', 'ICDO:8090/3', 'KEGG:05217', 'MESH:D018295', 'NCI:C156767', 'NCI:C3784', 'NCI:C7586', 'SNOMEDCT_US_2022_09_01:127570002', 'SNOMEDCT_US_2022_09_01:154507009', 'SNOMEDCT_US_2022_09_01:252995000', 'UMLS_CUI:C0007117', 'UMLS_CUI:C0206710', 'UMLS_CUI:C1368295']",['DOID:3451']
7870,2526,prostate adenocarcinoma,"""A prostate carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://cancergenome.nih.gov/cancersselected/prostatecancer, url:http\://en.wikipedia.org/wiki/Adenocarcinoma, url:http\://en.wikipedia.org/wiki/Prostate_cancer]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C2919', 'SNOMEDCT_US_2022_09_01:399490008', 'UMLS_CUI:C0007112']",['DOID:10286']
7874,2531,hematologic cancer,"""An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes."" [url:http\://en.wikipedia.org/wiki/Blood_cancer, url:http\://www.cancer.gov/dictionary/?CdrID=45708]","['DO_cancer_slim', 'DO_CFDE_slim', 'DO_FlyBase_slim', 'DO_RAD_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['MESH:D019337', 'NCI:C27134', 'SNOMEDCT_US_2022_09_01:414388001', 'UMLS_CUI:C0376544']",['DOID:0050686']
7878,2538,Landau-Kleffner syndrome,"""A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients."" [url:https\://rarediseases.org/rare-diseases/landau-kleffner-syndrome/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6855', 'ICD10CM:G40.8', 'MESH:D018887', 'NCI:C84806', 'OMIM:245570', 'ORDO:98818', 'SNOMEDCT_US_2022_09_01:230438007', 'UMLS_CUI:C0282512']",['DOID:0050704']
7880,2544,extratemporal epilepsy,"""An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe."" [url:http\://www.webmd.com/epilepsy/extratemporal-cortical-resection]",['NCIthesaurus'],"['NCI:C7760', 'SNOMEDCT_US_2022_09_01:111498005', 'UMLS_CUI:C0270849']",['DOID:1826']
7881,2548,reflex epilepsy,"""A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5779309/]",['NCIthesaurus'],"['MESH:D020195', 'NCI:C85041', 'SNOMEDCT_US_2022_09_01:79745005', 'UMLS_CUI:C0270857']",['DOID:0050706']
7882,255,hemangioma,"""A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterised by increased number of normal or abnormal vessels filled with blood."" [url:http\://en.wikipedia.org/wiki/Hemangioma]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:D18.0', 'ICD9CM:228.00', 'ICDO:9120/0', 'MESH:D006391', 'NCI:C3085', 'SNOMEDCT_US_2022_09_01:154625006', 'UMLS_CUI:C0018916']",['DOID:0060091']
7885,2556,relapsing polychondritis,"""A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body."" [url:https\://pubmed.ncbi.nlm.nih.gov/26711694/, url:https\://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis]",['DO_rare_slim'],"['GARD:7417', 'ICD10CM:M94.1', 'MESH:D011081', 'NCI:C157268', 'SNOMEDCT_US_2022_09_01:72275000', 'UMLS_CUI:C0032453']",['DOID:2557']
7891,2565,macular corneal dystrophy,"""A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea."" [url:http\://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-macular, url:http\://en.wikipedia.org/wiki/Macular_corneal_dystrophy, url:http\://www.omim.org/entry/217800?search=217800&highlight=217800, url:https\://www.ncbi.nlm.nih.gov/pubmed/11017086, url:https\://www.ncbi.nlm.nih.gov/pubmed/17093400]",['NCIthesaurus'],"['ICD10CM:H18.55', 'ICD9CM:371.55', 'MESH:D003317', 'NCI:C34793', 'OMIM:217800', 'SNOMEDCT_US_2022_09_01:60258001', 'UMLS_CUI:C0024439']",['DOID:0060442']
7893,2568,cervicitis,"""A cervix disease that is characterized by inflammation of the cervix."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23584805]",['NCIthesaurus'],"['ICD10CM:N72', 'ICD9CM:616.0', 'MESH:D002575', 'NCI:C26716', 'SNOMEDCT_US_2022_09_01:198199009', 'SNOMEDCT_US_2022_09_01:237081003', 'UMLS_CUI:C0007860', 'UMLS_CUI:C0007861']",['DOID:2253']
7896,2571,Langerhans-cell histiocytosis,"""A histiocytosis that is characterized by clonal proliferation of Langerhans cells."" [url:http\://en.wikipedia.org/wiki/Langerhans_cell_histiocytosis]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:C96.0', 'ICD10CM:C96.6', 'ICD9CM:202.5', 'ICDO:9751/1', 'MESH:C538636', 'MESH:D006646', 'NCI:C3107', 'NCI:C3160', 'OMIM:246400', 'OMIM:604856', 'SNOMEDCT_US_2022_09_01:154583006', 'SNOMEDCT_US_2022_09_01:234439008', 'UMLS_CUI:C0019621', 'UMLS_CUI:C0023381']",['DOID:3405']
7898,2580,rhizomelic chondrodysplasia punctata,"""A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity."" [url:http\://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata, url:http\://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata, url:https\://www.ncbi.nlm.nih.gov/pubmed/15679822]","['DO_rare_slim', 'NCIthesaurus']","['GARD:13160', 'ICD10CM:E71.540', 'MESH:D018902', 'NCI:C85047', 'OMIM:PS215100', 'ORDO:177', 'SNOMEDCT_US_2022_09_01:56692003', 'UMLS_CUI:C0282529']",['DOID:2581']
7899,2581,chondrodysplasia punctata,"""A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography."" [url:https\://en.wikipedia.org/wiki/Chondrodysplasia_punctata#cite_note-Fitz2-1, url:https\://www.ncbi.nlm.nih.gov/pubmed/22229330]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8542', 'ICD10CM:Q77.3', 'MESH:D002806', 'NCI:C84632', 'OMIM:215105', 'ORDO:93442', 'SNOMEDCT_US_2022_09_01:205486004', 'UMLS_CUI:C0008445']",['DOID:225']
7900,2582,acatalasia,"""A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13."" [url:https\://pubmed.ncbi.nlm.nih.gov/1999334/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:363', 'MESH:D020642', 'NCI:C84526', 'OMIM:614097', 'ORDO:926', 'SNOMEDCT_US_2022_09_01:190954001', 'UMLS_CUI:C0268419']",['DOID:906']
7901,2583,agammaglobulinemia,"""A B cell deficiency that is caused by a reduction in all types of gamma globulins."" [url:http\://en.wikipedia.org/wiki/Dysgammaglobulinemia]",['NCIthesaurus'],"['ICD10CM:D80.1', 'ICD9CM:279.00', 'MESH:D000361', 'NCI:C26931', 'OMIM:PS601495', 'SNOMEDCT_US_2022_09_01:119250001', 'SNOMEDCT_US_2022_09_01:267512002', 'UMLS_CUI:C0001768', 'UMLS_CUI:C0086438']",['DOID:2115']
7902,2590,familial nephrotic syndrome,"""A nephrotic syndrome that has_material_basis_in genetic mutations."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19066979]",['NCIthesaurus'],"['ICD10CM:N04', 'MESH:C535761', 'NCI:C35337', 'OMIM:PS256300', 'SNOMEDCT_US_2022_09_01:48796009', 'UMLS_CUI:C3501848']",['DOID:1184']
7904,2596,larynx cancer,"""A respiratory system cancer that is located_in the larynx."" [url:http\://en.wikipedia.org/wiki/Larynx]","['DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['GARD:6862', 'ICD10CM:C32', 'ICD9CM:161', 'MESH:D007822', 'NCI:C7484', 'SNOMEDCT_US_2022_09_01:93859007', 'UMLS_CUI:C0007107']",['DOID:0050615']
7910,2600,laryngeal carcinoma,"""A larynx cancer that has_material_basis_in epithelial cells."" [url:http\://en.wikipedia.org/wiki/Carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C4855', 'SNOMEDCT_US_2022_09_01:154480006', 'UMLS_CUI:C0595989']",['DOID:2596']
7912,2602,chondroma,"""A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern."" [url:http\://en.wikipedia.org/wiki/Chondroma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6052', 'ICDO:9220/0', 'MESH:D002812', 'NCI:C53459', 'SNOMEDCT_US_2022_09_01:269638002', 'UMLS_CUI:C0936248']",['DOID:0060084']
7913,2609,adenomyoma,"""A cell type benign neoplasm that has_material_basis_in gland and muscle components."" [url:http\://en.wikipedia.org/wiki/Adenomyoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8932/0', 'MESH:D018194', 'NCI:C3726', 'SNOMEDCT_US_2022_09_01:40293003', 'UMLS_CUI:C0206622']",['DOID:0060084']
7916,2615,papilloma,"""A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue."" [url:http\://www.merriam-webster.com/medlineplus/papilloma]",['NCIthesaurus'],"['ICDO:8050/0', 'MESH:D010212', 'NCI:C3713', 'NCI:C7440', 'SNOMEDCT_US_2022_09_01:711329002', 'SNOMEDCT_US_2022_09_01:82049002', 'UMLS_CUI:C0030354', 'UMLS_CUI:C0205875']",['DOID:0060084']
7917,2616,Wolffian duct adenoma,"""A reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the region of the Wolffian duct."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14515653]",['NCIthesaurus'],"['SNOMEDCT_US_2022_09_01:72889001', 'UMLS_CUI:C0334530']",['DOID:0050622']
7918,262,kidney hemangiopericytoma,"""A kidney cancer which is manifested in the kidney."" [url:http\://en.wikipedia.org/wiki/Hemangiopericytoma, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1466284/]",['NCIthesaurus'],"['NCI:C4527', 'SNOMEDCT_US_2022_09_01:254923001', 'UMLS_CUI:C0346256']",['DOID:263']
7919,2621,autonomic nervous system neoplasm,"""A peripheral nervous system neoplasm that is located_in the autonomic nervous system."" [url:http\://en.wikipedia.org/wiki/Autonomic_nervous_system]",['NCIthesaurus'],"['NCI:C5112', 'UMLS_CUI:C1332356']",['DOID:1192']
7921,263,kidney cancer,"""A urinary system cancer that is located_in the kidney."" [url:http\://en.wikipedia.org/wiki/Kidney_cancer]","['DO_cancer_slim', 'DO_CFDE_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C64', 'ICD9CM:189.0', 'MESH:D007680', 'NCI:C120456', 'NCI:C3150', 'NCI:C7548', 'SNOMEDCT_US_2022_09_01:126880001', 'SNOMEDCT_US_2022_09_01:93849006', 'UMLS_CUI:C0022665', 'UMLS_CUI:C0494158', 'UMLS_CUI:C0740457']",['DOID:3996']
7922,2632,papillary serous adenocarcinoma,"""A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies."" [url:https\://www.ajronline.org/doi/10.2214/ajr.182.6.1821534]",['NCIthesaurus'],"['NCI:C4182', 'SNOMEDCT_US_2021_09_01:90725004']",['DOID:3112']
7923,2634,cystadenoma,"""An adenoma that forms a cyst."" [url:http\://en.wikipedia.org/wiki/Cystadenoma]",['NCIthesaurus'],"['ICDO:8440/0', 'MESH:D003537', 'NCI:C2972', 'SNOMEDCT_US_2022_09_01:189680006', 'UMLS_CUI:C0010633']",['DOID:657']
7924,2636,ovarian Brenner tumor,"""An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary."" [url:https\://en.wikipedia.org/wiki/Brenner_tumour]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9397', 'MESH:D001948', 'NCI:C39954', 'UMLS_CUI:C0006160']",['DOID:0060112']
7925,2639,breast pericanalicular fibroadenoma,"""A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures."" [url:https\://en.wikipedia.org/wiki/Fibroadenoma]",['NCIthesaurus'],"['NCI:C4272', 'SNOMEDCT_US_2022_09_01:41382006', 'UMLS_CUI:C0334497']",['DOID:1618']
7926,264,hemangiopericytoma,"""A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries."" [url:http\://en.wikipedia.org/wiki/Hemangiopericytoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:2627', 'ICDO:9150/3', 'MESH:D006393', 'NCI:C3087', 'SNOMEDCT_US_2022_09_01:134335004', 'UMLS_CUI:C0018922']",['DOID:3850']
7927,2640,struma ovarii,"""An ovarian germ cell monodermal and highly specialized teratoma that is composed either exclusively or predominantly of thyroid tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26374222]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9090/0', 'MESH:D013330', 'NCI:C7468', 'SNOMEDCT_US_2022_09_01:24327009', 'UMLS_CUI:C0038478']",['DOID:2641']
7928,2641,ovarian germ cell monodermal and highly specialized teratoma,"""A monodermal teratoma that has_material_basis_in germ cells that are highly specialized and is located_in the ovary."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12440821]",['NCIthesaurus'],"['NCI:C8113', 'UMLS_CUI:C0280134']",['DOID:5207']
7930,2645,benign mesothelioma,"""A cell type benign neoplasm that has_material_basis_in mesothelium."" [url:http\://www.mayoclinic.org/diseases-conditions/mesothelioma/basics/definition/con-20026157?_ga=1.105809091.1500897651.1410548817]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:C45', 'MESH:D008654', 'NCI:C3234', 'SNOMEDCT_US_2022_09_01:154491004', 'UMLS_CUI:C0025500']",['DOID:0060084']
7933,2649,chondroblastoma,"""A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints."" [url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/chondroblastoma, url:https\://www.ncbi.nlm.nih.gov/books/NBK536947/]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6047', 'ICDO:9230/1', 'MESH:D002804', 'NCI:C2945', 'SNOMEDCT_US_2022_09_01:9001003', 'UMLS_CUI:C0008441']",['DOID:0060123']
7934,265,spleen angiosarcoma,"""An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen."" [url:https\://pubs.rsna.org/doi/full/10.1148/radiol.2351040308]",['NCIthesaurus'],"['NCI:C4564', 'SNOMEDCT_US_2022_09_01:187821001', 'UMLS_CUI:C0346424']",['DOID:0001816']
7936,2656,breast intracanalicular fibroadenoma,"""A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts."" [url:https\://en.wikipedia.org/wiki/Fibroadenoma]",['NCIthesaurus'],"['NCI:C4271', 'SNOMEDCT_US_2022_09_01:72905006', 'UMLS_CUI:C0334496']",['DOID:1618']
7937,2658,dermoid cyst,"""A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm)."" [url:https\://en.wikipedia.org/wiki/Dermoid_cyst]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:K09.8', 'ICDO:9084/0', 'MESH:D003884', 'NCI:C9011', 'SNOMEDCT_US_2022_09_01:189117002', 'UMLS_CUI:C0011649']",['DOID:2660']
7938,2660,cystic teratoma,"""A benign teratoma that is characterized by the presence of cysts or cystic spaces."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23905455]",['NCIthesaurus'],"['NCI:C9014', 'SNOMEDCT_US_2022_09_01:42717009', 'UMLS_CUI:C1368903']",['DOID:0080602']
7939,2661,myoepithelioma,"""A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland."" [url:http\://medical-dictionary.thefreedictionary.com/myoepithelioma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8982/0', 'MESH:D009208', 'NCI:C40392', 'SNOMEDCT_US_2022_09_01:69291002', 'UMLS_CUI:C0027070']",['DOID:2664']
7944,2671,transitional cell carcinoma,"""A carcinoma that derives_from transitional epithelial cells."" [url:http\://en.wikipedia.org/wiki/Transitional_cell_carcinoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7794', 'ICDO:8120/3', 'MESH:D002295', 'NCI:C2930', 'NCI:C6783', 'SNOMEDCT_US_2022_09_01:118287003', 'SNOMEDCT_US_2022_09_01:27090000', 'UMLS_CUI:C0007138', 'UMLS_CUI:C0334265']",['DOID:305']
7947,268,liver angiosarcoma,"""An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30093472]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5813', 'ICD10CM:C22.3', 'NCI:C4438', 'SNOMEDCT_US_2022_09_01:187770005', 'UMLS_CUI:C0345907']",['DOID:0001816']
7949,2683,adenofibroma,"""A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands."" [url:http\://www.ncbi.nlm.nih.gov/mesh/68000232]",['DO_cancer_slim'],"['ICDO:9013/0', 'MESH:D000232', 'SNOMEDCT_US_2022_09_01:189823009', 'UMLS_CUI:C0001422']",['DOID:0060084']
7951,2687,skin sarcoma,"""A sarcoma that is located_in the skin."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21146736]",['NCIthesaurus'],"['NCI:C5585', 'UMLS_CUI:C0856900']",['DOID:4159']
7952,2689,lymphangiosarcoma,"""A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels."" [url:https\://en.wikipedia.org/wiki/Lymphangiosarcoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/9796078]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9170/3', 'MESH:C537491', 'MESH:D008204', 'NCI:C3205', 'NCI:C4490', 'SNOMEDCT_US_2022_09_01:403986008', 'SNOMEDCT_US_2022_09_01:62497000', 'UMLS_CUI:C0024224', 'UMLS_CUI:C0346082']",['DOID:0060073']
7953,2691,myoma,"""A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/29789793]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:D21', 'ICDO:8895/0', 'MESH:D009214', 'NCI:C4882', 'SNOMEDCT_US_2022_09_01:66357004', 'UMLS_CUI:C0027086']",['DOID:461']
7954,2696,Leydig cell tumor,"""A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle."" [url:https\://en.wikipedia.org/wiki/Leydig_cell_tumour]",['NCIthesaurus'],"['MESH:D007984', 'NCI:C3188', 'NCI:C4213', 'SNOMEDCT_US_2022_09_01:45002009', 'SNOMEDCT_US_2022_09_01:77870005', 'UMLS_CUI:C0023601', 'UMLS_CUI:C0334410']",['DOID:192']
7957,270,liver sarcoma,"""A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver."" [url:http\://www.cancersupportivecare.com/liver.html]",['NCIthesaurus'],"['NCI:C4437', 'SNOMEDCT_US_2022_09_01:254601002', 'UMLS_CUI:C0345906']",['DOID:3571']
7958,2700,mucinous adenofibroma,"""An adenofibroma that is characterized by the presence of mucin."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977110/]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9015/0', 'NCI:C8978', 'SNOMEDCT_US_2022_09_01:10705005', 'UMLS_CUI:C0334499']",['DOID:2683']
7961,2703,synovitis,"""A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling."" [url:https\://en.wikipedia.org/wiki/Synovitis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7722', 'MESH:D013585', 'NCI:C50766', 'SNOMEDCT_US_2022_09_01:268092005', 'UMLS_CUI:C0039103']",['DOID:65']
7969,2717,Bloom syndrome,"""A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability."" [url:http\://ghr.nlm.nih.gov/condition/bloom-syndrome, url:https\://en.wikipedia.org/wiki/Bloom_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/10823897, url:https\://www.ncbi.nlm.nih.gov/pubmed/9482582]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['MESH:D001816', 'NCI:C2903', 'OMIM:210900', 'ORDO:125', 'SNOMEDCT_US_2022_09_01:4434006', 'UMLS_CUI:C0005859']",['DOID:225']
7971,272,hepatic vascular disease,"""A vascular disease that is located_in the liver."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21055687]",['NCIthesaurus'],"['NCI:C35442', 'SNOMEDCT_US_2022_09_01:235878005', 'UMLS_CUI:C0400923']",['DOID:178']
7972,2722,acrodermatitis,"""A dermatitis that selectively affects the hands and feet."" [url:http\://en.wikipedia.org/wiki/Acrodermatitis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5722', 'MESH:D000169', 'NCI:C84532', 'SNOMEDCT_US_2022_09_01:8197001', 'UMLS_CUI:C0001197']",['DOID:2723']
7973,2723,dermatitis,"""A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin."" [url:http\://en.wikipedia.org/wiki/Dermatitis, url:http\://www.nlm.nih.gov/medlineplus/eczema.html]",['NCIthesaurus'],"['ICD10CM:L30.9', 'MESH:D003872', 'NCI:C2983', 'SNOMEDCT_US_2022_09_01:238538009', 'UMLS_CUI:C0011603']",['DOID:37']
7974,2725,capillary hemangioma,"""A hemangioma that is  characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells."" [url:https\://eyewiki.aao.org/Capillary_Hemangioma]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:Q82.5', 'ICDO:9131/0', 'MESH:D018324', 'NCI:C7457', 'SNOMEDCT_US_2022_09_01:56975005', 'UMLS_CUI:C0206733']",['DOID:255']
7975,2729,dyskeratosis congenita,"""A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer."" [url:http\://en.wikipedia.org/wiki/Dyskeratosis_congenita, url:http\://ghr.nlm.nih.gov/condition/dyskeratosis-congenita]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10905', 'MESH:D019871', 'NCI:C111802', 'OMIM:PS127550', 'ORDO:1775', 'SNOMEDCT_US_2022_09_01:74911008', 'UMLS_CUI:C0265965']",['DOID:37']
7976,2730,epidermolysis bullosa,"""A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin."" [url:https\://rarediseases.org/rare-diseases/epidermolysis-bullosa/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6359', 'ICD10CM:Q81', 'MESH:D004820', 'NCI:C67383', 'SNOMEDCT_US_2022_09_01:205580008', 'UMLS_CUI:C0014527']",['DOID:2731']
7978,2732,Rothmund-Thomson syndrome,"""A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24."" [url:https\://pubmed.ncbi.nlm.nih.gov/20113479/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4392', 'ICD10CM:Q82.8', 'MESH:D011038', 'NCI:C3335', 'OMIM:268400', 'SNOMEDCT_US_2022_09_01:205572001', 'UMLS_CUI:C0032339']",['DOID:37']
7981,2736,Hajdu-Cheney syndrome,"""A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in NOTCH2 on chromosome 1p12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21378985, url:https\://www.ncbi.nlm.nih.gov/pubmed/21378989, url:https\://www.ncbi.nlm.nih.gov/pubmed/9714016]","['DO_rare_slim', 'NCIthesaurus']","['GARD:508', 'MESH:D030981', 'MESH:D031845', 'NCI:C35545', 'NCI:C84745', 'OMIM:102500', 'SNOMEDCT_US_2022_09_01:63122002', 'UMLS_CUI:C0917715', 'UMLS_CUI:C0917990']",['DOID:0080001']
7982,2738,pseudoxanthoma elasticum,"""A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system."" [url:http\://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum, url:http\://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/253/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9643', 'MESH:D011561', 'NCI:C85036', 'OMIM:177850', 'OMIM:264800', 'ORDO:758', 'SNOMEDCT_US_2022_09_01:7109007', 'UMLS_CUI:C0033847']",['DOID:65']
7983,2739,Gilbert syndrome,"""A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity."" [url:http\://en.wikipedia.org/wiki/Gilbert%27s_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6507', 'ICD10CM:E80.4', 'MESH:D005878', 'NCI:C84729', 'OMIM:143500', 'SNOMEDCT_US_2022_09_01:27503000', 'UMLS_CUI:C0017551']",['DOID:2741']
7984,2741,bilirubin metabolic disorder,"""An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism."" [url:http\://en.wikipedia.org/wiki/Hereditary_hyperbilirubinemia]",['NCIthesaurus'],"['MESH:D006932', 'MESH:D006933', 'NCI:C84761', 'SNOMEDCT_US_2022_09_01:154770008', 'UMLS_CUI:C0020433', 'UMLS_CUI:C0020435']",['DOID:655']
7985,2742,auditory system disease,"""A sensory system disease that is characterized by auditory dysfunction located_in the auditory system."" [url:https\://books.google.com/books?id=r3I0BwAAQBAJ&newbks=1&newbks_redir=0&lpg=PP1&dq=disorders%20of%20auditory%20system&pg=PP1#v=onepage&q=disorders%20of%20auditory%20system&f=false]","['DO_FlyBase_slim', 'NCIthesaurus']","['ICD10CM:H93.9', 'ICD9CM:388.9', 'MESH:D004427', 'NCI:C26757', 'SNOMEDCT_US_2022_09_01:194193002', 'UMLS_CUI:C0013447']",['DOID:0050155']
7988,2745,narcissistic personality disorder,"""A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity."" [url:http\://en.wikipedia.org/wiki/Narcissistic_personality_disorder]",['NCIthesaurus'],"['ICD10CM:F60.81', 'ICD9CM:301.81', 'MESH:D010554', 'NCI:C92635', 'SNOMEDCT_US_2022_09_01:80711002', 'UMLS_CUI:C0027402']",['DOID:1510']
7989,2746,glycogen storage disease V,"""A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13."" [url:https\://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6528', 'ICD10CM:E74.04', 'MESH:D006012', 'NCI:C84738', 'OMIM:232600', 'ORDO:368', 'SNOMEDCT_US_2022_09_01:55912009', 'UMLS_CUI:C0017924']",['DOID:2747']
7990,2747,glycogen storage disease,"""A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types."" [url:http\://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism, url:http\://en.wikipedia.org/wiki/Glycogen_storage_disease, url:http\://www.slideshare.net/anjupaed/glcogen-storage-disorders]",['NCIthesaurus'],"['ICD10CM:E74.0', 'ICD9CM:271.0', 'MESH:D006008', 'NCI:C61272', 'SNOMEDCT_US_2022_09_01:267498002', 'UMLS_CUI:C0017919']",['DOID:0050728']
7991,2748,glycogen storage disease III,"""A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21."" [url:https\://pubmed.ncbi.nlm.nih.gov/17047887/]",['NCIthesaurus'],"['ICD10CM:E74.03', 'MESH:D006010', 'NCI:C84736', 'OMIM:232400', 'SNOMEDCT_US_2022_09_01:66937008', 'UMLS_CUI:C0017922']",['DOID:2747']
7994,2750,glycogen storage disease IV,"""A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12."" [url:https\://pubmed.ncbi.nlm.nih.gov/17915577/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2520', 'ICD10CM:E74.09', 'MESH:D006011', 'NCI:C84737', 'OMIM:232500', 'SNOMEDCT_US_2022_09_01:11179002', 'UMLS_CUI:C0017923']",['DOID:2747']
7996,2752,glycogen storage disease II,"""A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome."" [url:http\://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5714', 'ICD10CM:E74.02', 'MESH:D006009', 'NCI:C84734', 'OMIM:232300', 'SNOMEDCT_US_2022_09_01:237967002', 'UMLS_CUI:C0017921']",['DOID:2747']
7997,2754,glycogen storage disease VI,"""A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation."" [url:http\://en.wikipedia.org/wiki/Glycogen_storage_disease_type_VI, url:http\://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/401/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:E74.09', 'MESH:D006013', 'NCI:C126875', 'OMIM:232700', 'ORDO:369', 'SNOMEDCT_US_2022_09_01:29291001', 'UMLS_CUI:C0017925']",['DOID:2747']
7998,2755,Mycobacterium avium complex disease,"""A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons."" [url:https\://clinicalinfo.hiv.gov/en/guidelines/adult-and-adolescent-opportunistic-infection/mycobacterium-avium-complex-disease, url:https\://pubmed.ncbi.nlm.nih.gov/35400550/]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['GARD:7123', 'MESH:D015270', 'NCI:C36197', 'SNOMEDCT_US_2022_09_01:14009004', 'UMLS_CUI:C0026916']",['DOID:0050338']
7999,2762,bone carcinoma,"""A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:http\://en.wikipedia.org/wiki/Carcinoma]",['NCIthesaurus'],"['NCI:C36082', 'SNOMEDCT_US_2022_09_01:269568000', 'UMLS_CUI:C0700110']",['DOID:184']
8000,2763,ethmoid sinus squamous cell carcinoma,"""A squamous cell carcinoma that is located_in the ethmoid sinus."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726268/]",['NCIthesaurus'],"['NCI:C6065', 'UMLS_CUI:C1333477']",['DOID:1363']
8002,2766,ethmoid sinus adenocarcinoma,"""An ethmoid sinus cancer that derives from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C6237', 'UMLS_CUI:C1333472']",['DOID:1363']
8003,2768,transient tic disorder,"""A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months."" [url:http\://en.wikipedia.org/wiki/Tic_disorder]",['NCIthesaurus'],"['ICD10CM:F95.0', 'ICD9CM:307.21', 'MESH:D013981', 'NCI:C116767', 'SNOMEDCT_US_2022_09_01:192622000', 'UMLS_CUI:C0040702']",['DOID:2769']
8006,2772,irritant dermatitis,"""A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation."" [url:https\://www.dermcoll.edu.au/atoz/irritant-contact-dermatitis-icd/]",['NCIthesaurus'],"['ICD10CM:L24.9', 'MESH:D017453', 'NCI:C27151', 'SNOMEDCT_US_2022_09_01:110979008', 'UMLS_CUI:C0162823']",['DOID:2773']
8009,2776,adamantinoma,"""A bone cancer that is located_in almost exclusively in the long bones."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30844202]","['DO_rare_slim', 'NCIthesaurus']","['MESH:D050398', 'NCI:C7644', 'ORDO:55881', 'SNOMEDCT_US_2022_09_01:56763007', 'UMLS_CUI:C0334556']",['DOID:184']
8013,2784,lung sarcoma,"""A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin."" [url:https\://www.sciencedirect.com/topics/medicine-and-dentistry/lung-sarcoma]",['NCIthesaurus'],"['NCI:C4860', 'UMLS_CUI:C0598790']",['DOID:1324']
8014,2785,Dandy-Walker syndrome,"""A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle."" [url:http\://omim.org/entry/220200, url:https\://en.wikipedia.org/wiki/Dandy-Walker_syndrome, url:https\://ghr.nlm.nih.gov/condition/dandy-walker-malformation]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6242', 'ICD10CM:Q03.1', 'MESH:D003616', 'NCI:C75012', 'OMIM:220200', 'SNOMEDCT_US_2022_09_01:14447001', 'UMLS_CUI:C0010964']",['DOID:2786']
8015,2786,cerebellar disease,"""A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome."" [url:https\://en.wikipedia.org/wiki/Cerebellum, url:https\://www.ncbi.nlm.nih.gov/pubmed/15377747]",['DO_RAD_slim'],"['MESH:D002526', 'SNOMEDCT_US_2022_09_01:267691001', 'UMLS_CUI:C0007760']",['DOID:936']
8016,2789,parasitic protozoa infectious disease,"""A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes."" [url:http\://en.wikipedia.org/wiki/Protozoan, url:http\://en.wikipedia.org/wiki/Protozoan_infection]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B64', 'MESH:D011528', 'NCI:C34953', 'SNOMEDCT_US_2022_09_01:95896000', 'UMLS_CUI:C0033740']",['DOID:1398']
8017,2790,necatoriasis,"""A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching."" [url:http\://en.wikipedia.org/wiki/Necator_americanus]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B76.1', 'MESH:D009332', 'NCI:C34838', 'SNOMEDCT_US_2022_09_01:36667009', 'UMLS_CUI:C0027528']",['DOID:883']
8019,2799,bronchiolitis obliterans,"""A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiolitis%20obliterans]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9551', 'MESH:D001989', 'NCI:C62580', 'SNOMEDCT_US_2022_09_01:40100001', 'UMLS_CUI:C0006272']",['DOID:3082']
8020,28,endocrine system disease,"""A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body."" [url:http\://en.wikipedia.org/wiki/Endocrine_system]","['DO_AGR_slim', 'DO_CFDE_slim', 'DO_GXD_slim', 'DO_MGI_slim', 'DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:E34.9', 'ICD9CM:259.9', 'MESH:D004700', 'NCI:C3009', 'SNOMEDCT_US_2022_09_01:67432001', 'UMLS_CUI:C0014130']",['DOID:7']
8021,2800,acute interstitial pneumonia,"""A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure."" [url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh, url:https\://www.ncbi.nlm.nih.gov/pubmed/11790668]","['DO_rare_slim', 'NCIthesaurus']","['GARD:12835', 'ICD10CM:J84.114', 'ICD9CM:516.33', 'NCI:C35806', 'ORDO:79126', 'SNOMEDCT_US_2022_09_01:129459004', 'UMLS_CUI:C1279945']",['DOID:2797']
8022,2801,nonspecific interstitial pneumonia,"""An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur."" [url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh]",['NCIthesaurus'],"['NCI:C35717', 'SNOMEDCT_US_2022_09_01:129452008', 'UMLS_CUI:C1290344']",['DOID:2797']
8025,2815,cranial nerve malignant neoplasm,"""A central nervous system cancer that affects a cranial nerve, develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells."" [url:https\://link.springer.com/chapter/10.1007/978-3-642-02874-8_15]",['NCIthesaurus'],"['ICD10CM:C72.50', 'ICD9CM:192.0', 'MESH:D003390', 'NCI:C2963', 'NCI:C3571', 'SNOMEDCT_US_2022_09_01:126966009', 'SNOMEDCT_US_2022_09_01:188311003', 'UMLS_CUI:C0010267', 'UMLS_CUI:C0153644']",['DOID:3620']
8029,2828,acalculous cholecystitis,"""A cholecystitis characterized by the absence of gallstones."" [url:https\://pubmed.ncbi.nlm.nih.gov/30487697/, url:https\://pubmed.ncbi.nlm.nih.gov/34657038/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362504/]",['NCIthesaurus'],"['MESH:D042101', 'NCI:C35578', 'SNOMEDCT_US_2022_09_01:19968009', 'UMLS_CUI:C0267841']",['DOID:1949']
8030,2832,geotrichosis,"""An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people."" [url:https\://pubmed.ncbi.nlm.nih.gov/35018329/]",['DO_infectious_disease_slim'],"['ICD10CM:B48.3', 'MESH:D005847', 'SNOMEDCT_US_2022_09_01:187105008', 'UMLS_CUI:C0017455']",['DOID:2473']
8036,2841,asthma,"""A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing."" [url:http\://www.nhlbi.nih.gov/health/dci/Diseases/Asthma/Asthma_WhatIs.html, url:https\://www.ncbi.nlm.nih.gov/books/NBK430901/, url:https\://www.ncbi.nlm.nih.gov/books/NBK7223/]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0000270', 'GARD:10246', 'ICD10CM:J45', 'ICD9CM:493', 'KEGG:05310', 'MESH:D001249', 'NCI:C28397', 'OMIM:600807', 'SNOMEDCT_US_2022_09_01:187687003', 'UMLS_CUI:C0004096']",['DOID:1176']
8038,2843,long QT syndrome,"""An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles)."" [url:http\://en.wikipedia.org/wiki/Long_QT_syndrome]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6922', 'ICD10CM:I45.81', 'ICD9CM:426.82', 'MESH:D008133', 'NCI:C34786', 'OMIM:PS192500', 'ORDO:101016', 'ORDO:768', 'SNOMEDCT_US_2022_09_01:9651007', 'UMLS_CUI:C0023976']",['DOID:0060036']
8039,2846,bruxism,"""A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping."" [url:http\://en.wikipedia.org/wiki/Bruxism]",['NCIthesaurus'],"['ICD10CM:F45.8', 'ICD10CM:G47.63', 'ICD9CM:327.53', 'MESH:D002012', 'MESH:D020186', 'NCI:C73511', 'SNOMEDCT_US_2022_09_01:274950005', 'SNOMEDCT_US_2022_09_01:90207007', 'UMLS_CUI:C0006325', 'UMLS_CUI:C0393774']",['DOID:535']
8040,285,hairy cell leukemia,"""A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope."" [url:https\://en.wikipedia.org/wiki/Hairy_cell_leukemia, url:https\://www.mayoclinic.org/diseases-conditions/hairy-cell-leukemia/symptoms-causes/syc-20372956, url:https\://www.ncbi.nlm.nih.gov/pubmed/30723113]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6560', 'ICD10CM:C91.4', 'ICD9CM:202.4', 'ICDO:9940/3', 'MESH:D007943', 'NCI:C7402', 'SNOMEDCT_US_2022_09_01:118613001', 'UMLS_CUI:C0023443']",['DOID:1040']
8041,2855,hyperthyroxinemia,"""A thyroid gland disease that is characterized by elevated thyroxine levels in the blood."" [url:https\://en.wikipedia.org/wiki/Hyperthyroxinemia]",['NCIthesaurus'],"['MESH:D006981', 'NCI:C131850', 'UMLS_CUI:C0020551']",['DOID:50']
8046,2862,glucosephosphate dehydrogenase deficiency,"""A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH)."" [url:http\://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6520', 'MESH:D005955', 'NCI:C98933', 'SNOMEDCT_US_2022_09_01:124134002', 'UMLS_CUI:C2939465']",['DOID:2978']
8047,2870,endometrial adenocarcinoma,"""An endometrial carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6287', 'NCI:C6290', 'NCI:C7359', 'SNOMEDCT_US_2022_09_01:123845008', 'SNOMEDCT_US_2022_09_01:762458004', 'UMLS_CUI:C0279763', 'UMLS_CUI:C1153706', 'UMLS_CUI:C1336905']",['DOID:2871']
8048,2871,endometrial carcinoma,"""A endometrial cancer that is located_in the tissue lining the uterus."" [url:http\://www.cancer.gov/cancertopics/types/endometrial]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:D016889', 'MESH:D018269', 'NCI:C7558', 'SNOMEDCT_US_2022_09_01:30289006', 'SNOMEDCT_US_2022_09_01:93781006', 'UMLS_CUI:C0206687', 'UMLS_CUI:C0476089']",['DOID:1380']
8049,2876,laryngeal squamous cell carcinoma,"""A laryngeal carcinoma that has_material_basis_in squamous cells."" [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:D000077195', 'NCI:C4044', 'SNOMEDCT_US_2022_09_01:707358000', 'UMLS_CUI:C0280324']",['DOID:2600']
8050,2877,larynx sarcoma,"""A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm."" [url:https\://www.sciencedirect.com/science/article/pii/S1726490109701893]",['NCIthesaurus'],"['NCI:C6020', 'UMLS_CUI:C1334377']",['DOID:2596']
8052,288,endometriosis of uterus,"""A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium."" [url:https\://en.wikipedia.org/wiki/Endometriosis]",['NCIthesaurus'],"['ICD10CM:N80.0', 'ICD9CM:617.0', 'OMIM:600458', 'SNOMEDCT_US_2022_09_01:76376003', 'UMLS_CUI:C0341858']",['DOID:345']
8053,2883,prostatic adenoma,"""A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate."" [url:https\://pubmed.ncbi.nlm.nih.gov/33102081/, url:https\://www.ncbi.nlm.nih.gov/pubmed/24649766]",['NCIthesaurus'],"['MESH:D011470', 'NCI:C4795', 'SNOMEDCT_US_2022_09_01:21173002', 'UMLS_CUI:C0520477']",['DOID:0060087']
8055,2887,prostate leiomyoma,"""A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037125/]",['NCIthesaurus'],"['NCI:C5544', 'UMLS_CUI:C1335510']",['DOID:0060087']
8057,289,endometriosis,"""A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body."" [url:https\://en.wikipedia.org/?title=Endometriosis, url:https\://www.ncbi.nlm.nih.gov/pubmed/20574791]",['NCIthesaurus'],"['EFO:0001065', 'ICD10CM:N80', 'ICD9CM:617', 'MESH:D004715', 'NCI:C3014', 'SNOMEDCT_US_2022_09_01:11871002', 'UMLS_CUI:C0014175']",['DOID:229']
8058,2891,thyroid adenoma,"""An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells."" [url:https\://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/thyroid-adenoma]",['NCIthesaurus'],"['MESH:D013964', 'NCI:C3502', 'SNOMEDCT_US_2022_09_01:189174004', 'UMLS_CUI:C0151468']",['DOID:0060089']
8059,2892,exocervical carcinoma,"""A cervix carcinoma that is located_in the exocervix."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14675699]",['NCIthesaurus'],"['NCI:C7453', 'SNOMEDCT_US_2022_09_01:372100004', 'UMLS_CUI:C1299238']",['DOID:2893']
8060,2893,cervix carcinoma,"""A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:http\://en.wikipedia.org/wiki/Cervical_cancer]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C9039', 'SNOMEDCT_US_2022_09_01:285432005', 'UMLS_CUI:C0302592']",['DOID:4362']
8061,2907,Goldenhar syndrome,"""A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch."" [url:http\://en.wikipedia.org/wiki/Goldenhar_syndrome, url:http\://www.healthline.com/galecontent/goldenhar-syndrome, url:https\://www.faces-cranio.org/goldenhar]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6540', 'ICD10CM:Q87.0', 'MESH:D006053', 'NCI:C84740', 'OMIM:164210', 'ORDO:374', 'SNOMEDCT_US_2022_09_01:46567003', 'UMLS_CUI:C0265240']",['DOID:225']
8062,2908,Treacher Collins syndrome,"""A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK1532/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9124', 'ICD10CM:Q75.4', 'MESH:D008342', 'NCI:C75018', 'OMIM:PS154500', 'SNOMEDCT_US_2022_09_01:205416009', 'UMLS_CUI:C0242387']",['DOID:225']
8063,2913,acute pancreatitis,"""A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock."" [url:https\://www.nhs.uk/conditions/acute-pancreatitis/]",['NCIthesaurus'],"['ICD10CM:K85', 'ICD9CM:577.0', 'MESH:D010195', 'NCI:C95437', 'SNOMEDCT_US_2022_09_01:39726008', 'UMLS_CUI:C0001339']",['DOID:4989']
8064,2914,immune system disease,"""A disease of anatomical entity that is located_in the immune system."" [url:http\://en.wikipedia.org/wiki/Immune_system]","['DO_AGR_slim', 'DO_CFDE_slim', 'DO_FlyBase_slim', 'DO_GXD_slim', 'DO_MGI_slim']","['EFO:0000540', 'ICD10CM:D89.9', 'ICD9CM:279.9', 'SNOMEDCT_US_2022_09_01:154782004', 'UMLS_CUI:C0041806']",['DOID:7']
8066,2917,cryoglobulinemia,"""A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures."" [url:http\://en.wikipedia.org/wiki/Cryoglobulinemia, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000540.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6217', 'ICD10CM:D89.1', 'MESH:D003449', 'NCI:C26736', 'SNOMEDCT_US_2022_09_01:30911005', 'UMLS_CUI:C0010403']",['DOID:2916']
8069,2921,glomerulonephritis,"""A nephritis that causes inflammation of the glomeruli located_in kidney."" [url:http\://en.wikipedia.org/wiki/Glomerulonephritis]","['DO_RAD_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6516', 'ICD10CM:N08', 'MESH:D005921', 'NCI:C26784', 'SNOMEDCT_US_2022_09_01:36171008', 'UMLS_CUI:C0017658']",['DOID:10952']
8070,2926,Klippel-Trenaunay syndrome,"""A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues."" [url:http\://en.wikipedia.org/wiki/Klippel%E2%80%93Tr%C3%A9naunay_syndrome, url:http\://omim.org/entry/149000]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:Q87.2', 'MESH:D007715', 'NCI:C84801', 'OMIM:149000', 'ORDO:90308', 'SNOMEDCT_US_2022_09_01:59078009', 'UMLS_CUI:C0022739']",['DOID:225']
8071,2929,Newcastle disease,"""A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Avian orthoavulavirus 1, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds."" [url:https\://en.wikipedia.org/wiki/Virulent_Newcastle_disease, url:https\://www.agric.wa.gov.au/livestock-biosecurity/newcastle-disease, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1526237/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1822603/]","['DO_infectious_disease_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['MESH:D009521', 'NCI:C34849', 'SNOMEDCT_US_2022_09_01:258300000', 'UMLS_CUI:C0027983']",['DOID:934']
8073,2934,aleutian mink disease,"""A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia."" [url:http\://en.wikipedia.org/wiki/Aleutian_Disease, url:http\://www.cdc.gov/eid/content/15/12/2040.htm]","['DO_infectious_disease_slim', 'zoonotic_infectious_disease']","['MESH:D000453', 'SNOMEDCT_US_2022_09_01:62251004', 'UMLS_CUI:C0002016']",['DOID:934']
8074,2935,Chediak-Higashi syndrome,"""A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42."" [url:http\://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/25129365]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6035', 'ICD10CM:E70.330', 'MESH:D002609', 'NCI:C2941', 'OMIM:214500', 'ORDO:167', 'SNOMEDCT_US_2022_09_01:111396008', 'UMLS_CUI:C0007965']",['DOID:225']
8076,2942,bronchiolitis,"""A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen."" [url:http\://en.wikipedia.org/wiki/Bronchiolitis]",['NCIthesaurus'],"['MESH:D001988', 'NCI:C39658', 'SNOMEDCT_US_2022_09_01:4120002', 'UMLS_CUI:C0006271']",['DOID:850']
8077,2945,severe acute respiratory syndrome,"""A Coronavirus infection that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia."" [url:http\://en.wikipedia.org/wiki/Severe_acute_respiratory_syndrome, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=SARS]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:9237', 'ICD10CM:J12.81', 'ICD9CM:079.82', 'MESH:D045169', 'NCI:C85064', 'SNOMEDCT_US_2022_09_01:398447004', 'UMLS_CUI:C1175175']",['DOID:0080599']
8078,295,eye carcinoma,"""An ocular cancer that has_material_basis_in abnormally proliferating cells,  derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye."" [url:http\://www.cancer.gov/dictionary/?CdrID=444991]",['NCIthesaurus'],"['NCI:C6079', 'UMLS_CUI:C0848866']",['DOID:2174']
8080,2952,inner ear disease,"""An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium."" [url:https\://www.merckmanuals.com/professional/ear\,-nose\,-and-throat-disorders/inner-ear-disorders/introduction-to-inner-ear-disorders]",['NCIthesaurus'],"['ICD10CM:H83.9', 'MESH:D007759', 'NCI:C128369', 'NCI:C27166', 'SNOMEDCT_US_2022_09_01:194690003', 'SNOMEDCT_US_2022_09_01:20425006', 'UMLS_CUI:C0022890', 'UMLS_CUI:C0494559']",['DOID:2742']
8081,2957,pulmonary tuberculosis,"""A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis."" [url:http\://www.cdc.gov/tb/publications/factsheets/general/tb.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tuberculosis]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['ICD10CM:A15', 'ICD9CM:011', 'MESH:D014397', 'NCI:C26899', 'SNOMEDCT_US_2022_09_01:81483001', 'UMLS_CUI:C0041327']",['DOID:399']
8082,2959,hyperimmunoglobulin syndrome,"""A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others."" [url:https\://ncithesaurus-stage.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27579]",['NCIthesaurus'],"['NCI:C27579', 'UMLS_CUI:C1334069']",['DOID:2115']
8084,2960,photosensitive trichothiodystrophy,"""A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight."" [url:https\://ghr.nlm.nih.gov/condition/trichothiodystrophy, url:https\://pubmed.ncbi.nlm.nih.gov/18603627/]","['DO_FlyBase_slim', 'NCIthesaurus']","['MESH:D054463', 'NCI:C4924', 'SNOMEDCT_US_2021_09_01:723551003']",['DOID:0111866']
8085,2962,Cockayne syndrome,"""A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development."" [url:http\://en.wikipedia.org/wiki/Cockayne_syndrome, url:https\://medlineplus.gov/genetics/condition/cockayne-syndrome/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1342/]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6122', 'ICD10CM:Q87.19', 'MESH:D003057', 'NCI:C9460', 'ORDO:191', 'SNOMEDCT_US_2022_09_01:205832003', 'UMLS_CUI:C0009207']",['DOID:225']
8092,2977,primary hyperoxaluria,"""A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones."" [url:https\://ghr.nlm.nih.gov/condition/primary-hyperoxaluria, url:https\://www.ncbi.nlm.nih.gov/pubmed/27815184]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:E72.53', 'ICD10CM:R82.992', 'MESH:D006959', 'MESH:D006960', 'NCI:C123158', 'OMIM:PS259900', 'ORDO:416', 'SNOMEDCT_US_2022_09_01:190766003', 'SNOMEDCT_US_2022_09_01:367621000119107', 'UMLS_CUI:C0020500', 'UMLS_CUI:C0020501']",['DOID:2978']
8093,2978,carbohydrate metabolic disorder,"""An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates."" [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_carbohydrate_metabolism]","['DO_CFDE_slim', 'DO_FlyBase_slim']","['MESH:D002239', 'UMLS_CUI:C0007001']",['DOID:655']
8094,298,lacrimal gland adenocarcinoma,"""A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C4541', 'SNOMEDCT_US_2022_09_01:254988008', 'UMLS_CUI:C0346341']",['DOID:293']
8098,2986,IgA glomerulonephritis,"""A glomerulonephritis characterized by build up of IgA antibody in the glomerulus."" [url:http\://en.wikipedia.org/wiki/IgA_nephropathy, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000466.htm]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0004194', 'GARD:863', 'MESH:D005922', 'NCI:C34643', 'OMIM:161950', 'SNOMEDCT_US_2022_09_01:236407003', 'UMLS_CUI:C0017661']",['DOID:2921']
8099,2987,familial Mediterranean fever,"""An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin."" [url:http\://en.wikipedia.org/wiki/Familial_Mediterranean_fever, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/127/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6421', 'ICD10CM:M04.1', 'ICD9CM:277.31', 'MESH:D010505', 'NCI:C84707', 'OMIM:134610', 'OMIM:249100', 'ORDO:342', 'SNOMEDCT_US_2022_09_01:12579009', 'UMLS_CUI:C0031069']",['DOID:417']
8100,2988,antiphospholipid syndrome,"""An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin)."" [url:http\://en.wikipedia.org/wiki/Antiphospholipid_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5824', 'ICD10CM:D68.61', 'MESH:D016736', 'NCI:C61283', 'OMIM:107320', 'SNOMEDCT_US_2022_09_01:201450008', 'UMLS_CUI:C0085278']",['DOID:417']
8101,299,adenocarcinoma,"""A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['ICDO:8140/3', 'MESH:D000230', 'NCI:C2852', 'SNOMEDCT_US_2022_09_01:35917007', 'UMLS_CUI:C0001418']",['DOID:305']
8103,2994,germ cell cancer,"""A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells."" [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor]","['DO_RAD_slim', 'NCIthesaurus']","['MESH:D009373', 'NCI:C3708', 'SNOMEDCT_US_2022_09_01:302853003', 'UMLS_CUI:C0205851']",['DOID:0050687']
8105,2997,Sertoli-Leydig cell tumor,"""A sex cord-gonadal stromal tumor characterized by variable proportions of Sertoli cells, Leydig cells, primitive gonadal stroma and/or heterologous elements located_in the ovaries and testicles."" [url:https\://en.wikipedia.org/wiki/Sertoli–Leydig_cell_tumour]","['DO_cancer_slim', 'DO_rare_slim']","['GARD:9967', 'MESH:D018310', 'SNOMEDCT_US_2022_09_01:34110004', 'UMLS_CUI:C0206723']",['DOID:192']
8106,2998,testicular cancer,"""A male reproductive system cancer that is located_in the testicles."" [url:http\://www.cancer.gov/dictionary?CdrID=445090]","['DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['GARD:7746', 'ICD10CM:C62', 'ICD9CM:186', 'MESH:D013736', 'NCI:C3404', 'NCI:C5053', 'NCI:C7251', 'SNOMEDCT_US_2022_09_01:126900000', 'SNOMEDCT_US_2022_09_01:94087009', 'UMLS_CUI:C0039590', 'UMLS_CUI:C0153594', 'UMLS_CUI:C1333010']",['DOID:3856']
8107,2999,granulosa cell tumor,"""A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma."" [url:https\://en.wikipedia.org/wiki/Granulosa_cell_tumour]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:D006106', 'NCI:C3070', 'NCI:C4205', 'SNOMEDCT_US_2022_09_01:18861007', 'SNOMEDCT_US_2022_09_01:46585005', 'UMLS_CUI:C0018206', 'UMLS_CUI:C0334401']",['DOID:192']
8108,3001,female reproductive endometrioid cancer,"""A female reproductive organ cancer that is characterized by a resemblance to endometrium."" [url:https\://en.wikipedia.org/wiki/Endometrioid_tumor]",['NCIthesaurus'],"['NCI:C7113', 'SNOMEDCT_US_2022_09_01:253013001', 'UMLS_CUI:C0474809']",['DOID:120']
8109,3002,ovary neuroendocrine neoplasm,"""An ovarian cancer that has_material_basis_in nuroendocrine cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26976990]",['NCIthesaurus'],"['NCI:C5237', 'UMLS_CUI:C1335172']",['DOID:2394']
8110,3003,nipple benign neoplasm,"""A breast benign neoplasm that is located_in the nipple."" [url:https\://en.wikipedia.org/wiki/Nipple_adenoma]",['NCIthesaurus'],"['NCI:C5212', 'UMLS_CUI:C1112166']",['DOID:0060082']
8111,3004,breast myoepithelial neoplasm,"""A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439666/]",['NCIthesaurus'],"['NCI:C40389', 'UMLS_CUI:C1511319']",['DOID:1612']
8112,3007,breast ductal carcinoma,"""A breast carcinoma that derives_from the lining of milk ducts."" [url:http\://cancergenome.nih.gov/cancersselected/breastductal, url:http\://www.cancer.gov/dictionary?CdrID=45085]",['DO_cancer_slim'],"['MESH:D044584', 'SNOMEDCT_US_2022_09_01:82711006', 'UMLS_CUI:C1176475']",['DOID:3459']
8113,3008,invasive ductal carcinoma,"""A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated."" [url:https\://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/25343550]",['NCIthesaurus'],"['MESH:D018270', 'NCI:C4017', 'NCI:C4194', 'SNOMEDCT_US_2022_09_01:408643008', 'UMLS_CUI:C1134719', 'UMLS_CUI:C1527349']",['DOID:3007']
8114,3009,breast neuroendocrine neoplasm,"""A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system."" [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/neuroendocrine-tumor]",['NCIthesaurus'],"['NCI:C5169', 'UMLS_CUI:C1332635']",['DOID:0060082']
8115,3010,lobular neoplasia,"""A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast."" [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/lobular-neoplasia]",['NCIthesaurus'],"['NCI:C27939', 'UMLS_CUI:C0861352']",['DOID:8791']
8116,3011,breast granular cell tumor,"""A breast cancer that is believed to arises_from Schwann cells."" [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/granular-cell-tumor]",['NCIthesaurus'],"['NCI:C40400', 'UMLS_CUI:C1511312']",['DOID:1612']
8117,3012,Li-Fraumeni syndrome,"""A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata."" [url:http\://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome, url:http\://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6902', 'MESH:D016864', 'NCI:C3476', 'OMIM:PS151623', 'ORDO:524', 'SNOMEDCT_US_2022_09_01:428850001', 'UMLS_CUI:C0085390']",['DOID:225']
8118,3013,intraductal breast benign neoplasm,"""A breast benign neoplasm that is located_in the breast ducts."" [url:https\://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/23025963]",['NCIthesaurus'],"['NCI:C36083', 'UMLS_CUI:C0948967']",['DOID:0060082']
8119,3016,breast malignant phyllodes tumor,"""A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s)."" [url:https\://www.sciencedirect.com/science/article/pii/S2214330016300256]",['NCIthesaurus'],"['MESH:D003557', 'NCI:C4275', 'NCI:C4504', 'NCI:C7575', 'SNOMEDCT_US_2022_09_01:254844000', 'SNOMEDCT_US_2022_09_01:712989008', 'SNOMEDCT_US_2022_09_01:87913009', 'UMLS_CUI:C0238031', 'UMLS_CUI:C0346154', 'UMLS_CUI:C0600066']",['DOID:1612']
8120,3017,breast sarcoma,"""A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells."" [url:http\://en.wikipedia.org/wiki/Sarcoma]",['NCIthesaurus'],"['NCI:C4670', 'SNOMEDCT_US_2022_09_01:278050001', 'UMLS_CUI:C0349667']",['DOID:1612']
8121,302,substance abuse,"""A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning."" [url:http\://allpsych.com/disorders/substance/substanceabuse.html, url:http\://en.wikipedia.org/wiki/Substance_abuse]",['NCIthesaurus'],"['MESH:D019966', 'NCI:C16522', 'SNOMEDCT_US_2022_09_01:26416006', 'UMLS_CUI:C0013146']",['DOID:303']
8124,3025,acinar cell carcinoma,"""A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells."" [url:https\://pubmed.ncbi.nlm.nih.gov/15215543/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8568', 'ICDO:8550/3', 'MESH:D018267', 'NCI:C3768', 'SNOMEDCT_US_2022_09_01:45410002', 'UMLS_CUI:C0206685']",['DOID:305']
8126,303,substance-related disorder,"""A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning."" [url:https\://www.psychologytoday.com/us/conditions/substance-related-disorders]","['DO_RAD_slim', 'NCIthesaurus']","['MESH:D019966', 'NCI:C92203', 'UMLS_CUI:C0236969']",['DOID:150']
8127,3030,mucinous adenocarcinoma,"""An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin."" [url:http\://coloncancer.about.com/od/typesofcancer/a/Mucinous_Tumor.htm, url:http\://medical-dictionary.thefreedictionary.com/mucinous+carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8480/3', 'MESH:D002288', 'NCI:C26712', 'NCI:C27379', 'SNOMEDCT_US_2022_09_01:72495009', 'SNOMEDCT_US_2022_09_01:900006', 'UMLS_CUI:C0007130', 'UMLS_CUI:C0334368']",['DOID:299']
8130,3039,cecum adenocarcinoma,"""A cecum carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C5543', 'SNOMEDCT_US_2022_09_01:413446001', 'UMLS_CUI:C1332866']",['DOID:1519']
8131,3042,allergic contact dermatitis,"""A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign."" [url:http\://en.wikipedia.org/wiki/Allergic_contact_dermatitis]",['NCIthesaurus'],"['ICD10CM:L23', 'MESH:D017449', 'NCI:C26998', 'SNOMEDCT_US_2022_09_01:200841005', 'UMLS_CUI:C0162820']",['DOID:2773']
8132,3044,food allergy,"""A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system."" [url:http\://www.niaid.nih.gov/topics/foodAllergy/understanding/Pages/whatIsIt.aspx]",['DO_IEDB_slim'],"['MESH:D005512', 'NCI:C172304', 'SNOMEDCT_US_2022_09_01:213018006', 'UMLS_CUI:C0016470']",['DOID:0060502']
8133,3047,Wissler-Fanconi syndrome,"""A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease."" [url:http\://en.wikipedia.org/wiki/Wissler%27s_syndrome, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5098720/, url:https\://www.ncbi.nlm.nih.gov/pubmed/8150635]",['gram-positive_bacterial_infectious_disease'],"['MESH:D014924', 'SNOMEDCT_US_2022_09_01:68190001', 'UMLS_CUI:C0043195']",['DOID:225']
8134,3049,Churg-Strauss syndrome,"""A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding."" [url:http\://www.hopkinsvasculitis.org/types-vasculitis/churgstrauss-syndrome-css/, url:http\://www.mayoclinic.com/health/churg-strauss-syndrome/DS00855]",['NCIthesaurus'],"['ICD10CM:M30.1', 'MESH:D015267', 'NCI:C34481', 'SNOMEDCT_US_2022_09_01:82275008', 'UMLS_CUI:C0008728']",['DOID:865']
8135,305,carcinoma,"""A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:http\://en.wikipedia.org/wiki/Carcinoma]","['DO_cancer_slim', 'DO_FlyBase_slim', 'NCIthesaurus']","['ICDO:8010/3', 'MESH:D002277', 'MESH:D009375', 'NCI:C2916', 'NCI:C3709', 'SNOMEDCT_US_2022_09_01:188083002', 'SNOMEDCT_US_2022_09_01:269513004', 'SNOMEDCT_US_2022_09_01:71298006', 'UMLS_CUI:C0007097', 'UMLS_CUI:C0553707', 'UMLS_CUI:C1368683']",['DOID:0050687']
8137,3055,paratyphoid fever,"""A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly."" [url:http\://en.wikipedia.org/wiki/Paratyphoid_fever]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus']","['ICD10CM:A01.1', 'ICD10CM:A01.2', 'ICD10CM:A01.3', 'ICD10CM:A01.4', 'ICD9CM:002.1', 'ICD9CM:002.2', 'ICD9CM:002.3', 'ICD9CM:002.9', 'MESH:D010284', 'NCI:C34894', 'NCI:C34895', 'NCI:C34896', 'NCI:C34897', 'SNOMEDCT_US_2022_09_01:51254007', 'SNOMEDCT_US_2022_09_01:71085009', 'SNOMEDCT_US_2022_09_01:76623002', 'SNOMEDCT_US_2022_09_01:85904008', 'UMLS_CUI:C0030528', 'UMLS_CUI:C0343375', 'UMLS_CUI:C0343376', 'UMLS_CUI:C0343377']",['DOID:0050338']
8138,3068,glioblastoma,"""A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes."" [url:http\://cancergenome.nih.gov/cancersselected/glioblastomamultiforme, url:http\://en.wikipedia.org/wiki/Glioblastoma_multiforme, url:https\://www.ncbi.nlm.nih.gov/pubmed/20129251, url:https\://www.ncbi.nlm.nih.gov/pubmed/23029035]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:2491', 'ICDO:9440/3', 'MESH:D005909', 'NCI:C129295', 'NCI:C39750', 'NCI:C9094', 'SNOMEDCT_US_2022_09_01:63634009', 'UMLS_CUI:C0017636', 'UMLS_CUI:C0278878', 'UMLS_CUI:C1514422']",['DOID:3069']
8139,3069,malignant astrocytoma,"""A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord."" [url:http\://en.wikipedia.org/wiki/Astrocytoma, url:http\://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9400/3', 'MESH:D001254', 'NCI:C4951', 'NCI:C60781', 'SNOMEDCT_US_2022_09_01:189914005', 'SNOMEDCT_US_2022_09_01:99131000119108', 'UMLS_CUI:C0004114', 'UMLS_CUI:C0750935']",['DOID:3070']
8140,3070,high grade glioma,"""A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine."" [url:http\://en.wikipedia.org/wiki/Malignant_glioma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['ICDO:9380/3', 'KEGG:05214', 'MESH:D005910', 'NCI:C3059', 'NCI:C4822', 'OMIM:PS137800', 'ORDO:182067', 'SNOMEDCT_US_2022_09_01:393564001', 'SNOMEDCT_US_2022_09_01:74532006', 'UMLS_CUI:C0017638', 'UMLS_CUI:C0555198']",['DOID:0050687']
8141,3071,gliosarcoma,"""A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation."" [url:https\://en.wikipedia.org/wiki/Gliosarcoma, url:https\://www.cancer.gov/rare-brain-spine-tumor/tumors/gliosarcoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:5653', 'ICDO:9442/3', 'MESH:D018316', 'NCI:C3796', 'SNOMEDCT_US_2022_09_01:35262004', 'UMLS_CUI:C0206726']",['DOID:3068']
8142,3073,brain glioblastoma multiforme,"""A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems."" [url:https\://en.wikipedia.org/wiki/Glioblastoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C4642', 'SNOMEDCT_US_2022_09_01:276828006', 'UMLS_CUI:C0349543']",['DOID:0060108']
8143,3074,giant cell glioblastoma,"""A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells."" [url:http\://en.wikipedia.org/wiki/Giant-cell_glioblastoma, url:http\://neuro-oncology.oxfordjournals.org/content/11/6/833.full]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9441/3', 'MESH:D005909', 'NCI:C4325', 'SNOMEDCT_US_2022_09_01:44529004', 'UMLS_CUI:C0334588']",['DOID:3068']
8144,3076,adult astrocytic tumor,"""A malignant astrocytoma that occurs during adulthood."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7049]",['NCIthesaurus'],"['NCI:C7049', 'UMLS_CUI:C1332183']",['DOID:3069']
8145,3078,anaplastic astrocytoma,"""A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei."" [url:http\://en.wikipedia.org/wiki/Anaplastic_astrocytoma, url:http\://www.cancer.gov/dictionary?CdrID=45591]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:5860', 'MESH:D001254', 'NCI:C9477', 'SNOMEDCT_US_2022_09_01:55353007', 'UMLS_CUI:C0334579']",['DOID:3069']
8149,3082,interstitial lung disease,"""A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215823/]",['DO_rare_slim'],"['GARD:13336', 'ICD10CM:J84.9', 'MESH:D017563', 'NCI:C164315', 'SNOMEDCT_US_2022_09_01:64667001', 'UMLS_CUI:C0206062']",['DOID:850']
8150,3083,chronic obstructive pulmonary disease,"""An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD).  Lung volume is increased and pulmonary hypertension may occur.  The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both."" [url:https\://pubmed.ncbi.nlm.nih.gov/28513453/, url:https\://pubmed.ncbi.nlm.nih.gov/32745458/, url:https\://pubmed.ncbi.nlm.nih.gov/32800196/, url:https\://www.nhlbi.nih.gov/health-topics/copd]","['DO_RAD_slim', 'NCIthesaurus']","['EFO:0000341', 'ICD10CM:J44.9', 'MESH:D029424', 'NCI:C3199', 'OMIM:606963', 'SNOMEDCT_US_2022_09_01:13645005', 'UMLS_CUI:C0024117']",['DOID:2320']
8155,3093,nervous system cancer,"""An organ system cancer located_in the nervous system that affects the central or peripheral nervous system."" [url:http\://en.wikipedia.org/wiki/Nervous_system_disease]",['NCIthesaurus'],"['ICD9CM:192.9', 'MESH:D009380', 'NCI:C35562', 'SNOMEDCT_US_2022_09_01:188306000', 'UMLS_CUI:C0027665', 'UMLS_CUI:C0153643', 'UMLS_CUI:C1334956']",['DOID:0050686']
8160,3103,thoracic outlet syndrome,"""A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles."" [url:http\://en.wikipedia.org/wiki/Thoracic_outlet_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7759', 'ICD10CM:G54.0', 'MESH:D013901', 'NCI:C85188', 'SNOMEDCT_US_2022_09_01:2040007', 'UMLS_CUI:C0039984']",['DOID:178']
8161,3107,toxascariasis,"""A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite."" [url:http\://en.wikipedia.org/wiki/Toxascaris_leonina]",['DO_infectious_disease_slim'],"['MESH:D017227', 'UMLS_CUI:C0040522']",['DOID:883']
8162,3108,ascaridiasis,"""A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18367882]",['DO_infectious_disease_slim'],"['MESH:D001198', 'SNOMEDCT_US_2022_09_01:2435008', 'UMLS_CUI:C0003952']",['DOID:883']
8163,3109,idiopathic CD4-positive T-lymphocytopenia,"""A lymphopenia that is caused by a reduction of CD4+ T lymphocytes."" [url:http\://en.wikipedia.org/wiki/Idiopathic_CD4%2B_lymphocytopenia]",['NCIthesaurus'],"['MESH:D018344', 'NCI:C84780', 'UMLS_CUI:C0206744']",['DOID:614']
8164,3110,papillary cystadenocarcinoma,"""A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections."" [url:http\://www.sciencedirect.com/science/article/pii/S1741940905000841]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10162', 'ICDO:8450/3', 'MESH:D018283', 'NCI:C3777', 'SNOMEDCT_US_2022_09_01:2735009', 'UMLS_CUI:C0206700']",['DOID:3111']
8165,3111,cystadenocarcinoma,"""An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed."" [url:http\://en.wikipedia.org/wiki/Cystadenocarcinoma]",['NCIthesaurus'],"['ICDO:8440/3', 'MESH:D003536', 'NCI:C2971', 'SNOMEDCT_US_2022_09_01:21008007', 'UMLS_CUI:C0010631']",['DOID:60004']
8166,3112,papillary adenocarcinoma,"""An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue."" [url:http\://en.wikipedia.org/wiki/Papillary_adenocarcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8260/3', 'MESH:D000231', 'NCI:C2853', 'SNOMEDCT_US_2022_09_01:4797003', 'UMLS_CUI:C0001420']",['DOID:299']
8167,3113,papillary carcinoma,"""A carcinoma that is derives_from epithelial cells with finger like projections."" [url:http\://breastcancer.about.com/od/types/p/papillary_ca.htm]",['NCIthesaurus'],"['ICDO:8050/3', 'MESH:D002291', 'NCI:C2927', 'SNOMEDCT_US_2022_09_01:25910003', 'UMLS_CUI:C0007133']",['DOID:305']
8168,3114,serous cystadenocarcinoma,"""A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions."" [url:http\://ukpmc.ac.uk/abstract/MED/16025006]",['NCIthesaurus'],"['MESH:D018284', 'NCI:C3778', 'SNOMEDCT_US_2022_09_01:90725004', 'UMLS_CUI:C0206701']",['DOID:3111']
8170,3117,hepatobiliary benign neoplasm,"""A gastrointestinal system benign neoplasm located_in the hepatobiliary system."" [url:http\://en.wikipedia.org/wiki/Hepatobiliary_system]",['NCIthesaurus'],"['NCI:C8614', 'UMLS_CUI:C0854196']",['DOID:0050624']
8171,3118,hepatobiliary disease,"""A gastrointestinal system disease that is located_in the liver and/or biliary tract."" [url:http\://en.wikipedia.org/wiki/Hepato-biliary_diseases]",['NCIthesaurus'],"['MESH:D004066', 'NCI:C3959', 'UMLS_CUI:C0267792']",['DOID:77']
8172,3119,gastrointestinal system cancer,"""An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system."" [url:http\://en.wikipedia.org/wiki/Human_gastrointestinal_tract]","['DO_cancer_slim', 'DO_FlyBase_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C26.9', 'ICD9CM:239.0', 'MESH:D004067', 'MESH:D005770', 'NCI:C3052', 'NCI:C4890', 'SNOMEDCT_US_2022_09_01:128348002', 'SNOMEDCT_US_2022_09_01:276806006', 'SNOMEDCT_US_2022_09_01:428905002', 'UMLS_CUI:C0012243', 'UMLS_CUI:C0017185', 'UMLS_CUI:C0685938']",['DOID:0050686']
8174,3120,gallbladder papillomatosis,"""A gallbladder benign neoplasm composed of epithelial tissue on papillae of vascularized connective tissue."" [url:https\://pubmed.ncbi.nlm.nih.gov/25351203/]",['NCIthesaurus'],"['NCI:C7130', 'UMLS_CUI:C1333754']",['DOID:0080640']
8175,3121,gallbladder cancer,"""A biliary tract cancer that is located_in the gallbladder."" [url:http\://en.wikipedia.org/wiki/Gallbladder]","['DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['GARD:9328', 'ICD10CM:C23', 'ICD9CM:156.0', 'MESH:D005706', 'NCI:C3048', 'NCI:C35676', 'NCI:C7481', 'SNOMEDCT_US_2022_09_01:126854002', 'SNOMEDCT_US_2022_09_01:93810008', 'UMLS_CUI:C0016978', 'UMLS_CUI:C0153452', 'UMLS_CUI:C0278806']",['DOID:4607']
8178,3127,proctitis,"""A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding."" [url:http\://www.cdc.gov/std/Treatment/2006/proctitis.htm, url:http\://www.merck.com/mmpe/sec02/ch020/ch020i.html#sec02-ch020-ch020g-1361]",['NCIthesaurus'],"['ICD10CM:K62.89', 'MESH:D011349', 'NCI:C38011', 'SNOMEDCT_US_2022_09_01:266534007', 'UMLS_CUI:C0033246']",['DOID:1285']
8179,3128,anus disease,"""A rectal disease located_in the anus."" [url:https\://www.health.harvard.edu/a_to_z/anal-disorders-a-to-z]",['NCIthesaurus'],"['MESH:D001004', 'NCI:C26695', 'SNOMEDCT_US_2022_09_01:32110003', 'UMLS_CUI:C0003462']",['DOID:1285']
8180,3132,porphyria cutanea tarda,"""An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin."" [url:http\://en.wikipedia.org/wiki/Porphyria_cutanea_tarda, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/321/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7433', 'ICD10CM:E80.1', 'MESH:D017119', 'NCI:C27725', 'OMIM:176090', 'OMIM:176100', 'ORDO:101330', 'SNOMEDCT_US_2022_09_01:61860000', 'UMLS_CUI:C0162566']",['DOID:3133']
8181,3133,acute porphyria,"""A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis."" [url:http\://en.wikipedia.org/wiki/Porphyria, url:http\://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/porphyrias/acute_porphyrias.html]",['DO_rare_slim'],"['MESH:D017094', 'OMIM:612740', 'ORDO:100924', 'SNOMEDCT_US_2022_09_01:55056006', 'UMLS_CUI:C0162533']",['DOID:13268']
8184,3138,acanthosis nigricans,"""A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas."" [url:https\://pubmed.ncbi.nlm.nih.gov/32516476/, url:https\://www.ncbi.nlm.nih.gov/books/NBK431057/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8603', 'ICD10CM:L83', 'MESH:D000052', 'NCI:C26687', 'OMIM:100600', 'OMIM:200170', 'SNOMEDCT_US_2022_09_01:72129000', 'UMLS_CUI:C0000889']",['DOID:10123']
8186,3140,scleredema adultorum,"""A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30128796]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5975', 'MESH:D012592', 'NCI:C85057', 'SNOMEDCT_US_2022_09_01:72967001', 'UMLS_CUI:C0036413']",['DOID:37']
8189,3144,cutis laxa,"""A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity."" [url:http\://en.wikipedia.org/wiki/Cutis_laxa, url:http\://ghr.nlm.nih.gov/condition/cutis-laxa, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/175/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6227', 'ICD10CM:Q82.8', 'MESH:D003483', 'NCI:C84663', 'OMIM:PS123700', 'ORDO:209', 'SNOMEDCT_US_2022_09_01:238825007', 'UMLS_CUI:C0010495']",['DOID:37']
8190,3145,hyperlipoproteinemia type III,"""A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13."" [url:https\://omim.org/entry/617347]",['NCIthesaurus'],"['MESH:D006952', 'NCI:C34710', 'OMIM:617347', 'SNOMEDCT_US_2022_09_01:42569002', 'UMLS_CUI:C0020479']",['DOID:1168']
8191,3146,lipid metabolism disorder,"""An inherited metabolic disorder that involves the creation and degradation of lipids."" [url:http\://en.wikipedia.org/wiki/Lipid_metabolism]",['DO_FlyBase_slim'],"['MESH:D008052', 'UMLS_CUI:C0023772']",['DOID:655']
8195,3151,skin squamous cell carcinoma,"""A skin carcinoma that has_material_basis_in squamous cells."" [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C4819', 'SNOMEDCT_US_2022_09_01:254651007', 'UMLS_CUI:C0553723']",['DOID:3451']
8197,3156,hypomelanosis of Ito,"""A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation)."" [url:https\://rarediseases.org/rare-diseases/hypomelanosis-of-ito/]",['NCIthesaurus'],"['MESH:D010859', 'NCI:C7582', 'OMIM:300337', 'SNOMEDCT_US_2022_09_01:367520004', 'UMLS_CUI:C0022283']",['DOID:37']
8200,3162,malignant spindle cell melanoma,"""A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144801/]",['NCIthesaurus'],"['NCI:C4237', 'SNOMEDCT_US_2022_09_01:68827007', 'UMLS_CUI:C0334444']",['DOID:1909']
8202,3168,squamous cell neoplasm,"""A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities."" [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma]",['NCIthesaurus'],"['MESH:D018307', 'NCI:C3792', 'SNOMEDCT_US_2022_09_01:118286007', 'UMLS_CUI:C0206720']",['DOID:0060084']
8204,3173,fallopian tube serous papilloma,"""A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth."" [url:https\://en.wikipedia.org/wiki/Papilloma, url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=true&q=serous]",['NCIthesaurus'],"['NCI:C40112', 'UMLS_CUI:C1517123']",['DOID:0060111']
8206,3178,skin papilloma,"""A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK560737/]",['NCIthesaurus'],"['NCI:C4614', 'SNOMEDCT_US_2022_09_01:189051001', 'UMLS_CUI:C0347390']",['DOID:3165']
8212,3185,spinal cord glioma,"""A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells."" [url:http\://www.cancer.gov/dictionary?CdrID=45700]",['NCIthesaurus'],"['NCI:C4534', 'SNOMEDCT_US_2022_09_01:254946004', 'UMLS_CUI:C2937245']",['DOID:5612']
8214,3187,brain oligodendroglioma,"""A brain glioma that has_material_basis_in oligodendrocytes."" [url:http\://www.cancer.gov/dictionary?CdrID=46257]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C9377', 'SNOMEDCT_US_2022_09_01:254940005', 'UMLS_CUI:C0346286']",['DOID:0060108']
8216,3191,nemaline myopathy,"""A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies."" [url:http\://en.wikipedia.org/wiki/Nemaline_myopathy, url:http\://ghr.nlm.nih.gov/condition/nemaline-myopathy, url:https\://www.mda.org/disease/congenital-myopathies/types/nemaline-myopathy, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:12033', 'ICD10CM:G71.21', 'MESH:D017696', 'OMIM:PS161800', 'ORDO:607', 'SNOMEDCT_US_2022_09_01:75072002', 'UMLS_CUI:C0206157']",['DOID:0081337']
8217,3192,neurilemmoma,"""A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells."" [url:https\://en.wikipedia.org/wiki/Schwannoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9560/3', 'MESH:D009442', 'NCI:C3269', 'SNOMEDCT_US_2022_09_01:985004', 'UMLS_CUI:C0027809']",['DOID:2001']
8218,3193,peripheral nerve sheath neoplasm,"""A peripheral nervous system neoplasm that is located in the connective tissue surrounding nerves."" [url:http\://en.wikipedia.org/wiki/Malignant_peripheral_nerve_sheath_tumor]",['DO_cancer_slim'],"['MESH:D018317', 'UMLS_CUI:C0751689']",['DOID:1192']
8219,3196,cellular schwannoma,"""A neurilemmoma with a predominantly cellular growth but no Verocay bodies."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2400975]",['NCIthesaurus'],"['NCI:C4724', 'SNOMEDCT_US_2022_09_01:253086004', 'UMLS_CUI:C0431124']",['DOID:3192']
8220,3197,schwannoma of twelfth cranial nerve,"""A neurilemmoma that is located_in the 12th cranial nerve."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078147/]",['NCIthesaurus'],"['NCI:C5434', 'UMLS_CUI:C1335928']",['DOID:3192']
8224,3200,cerebellopontine angle tumor,"""A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopotine angle."" [url:https\://en.wikipedia.org/wiki/Cerebellopontine_angle_syndrome]",['NCIthesaurus'],['NCI:C5414'],['DOID:4203']
8231,3209,junctional epidermolysis bullosa,"""An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin."" [url:https\://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa#genes]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2152', 'MESH:D016109', 'NCI:C90598', 'SNOMEDCT_US_2022_09_01:76905008', 'UMLS_CUI:C0079301']",['DOID:2730']
8232,321,tropical spastic paraparesis,"""A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms."" [url:http\://en.wikipedia.org/wiki/Tropical_spastic_paraparesis, url:http\://www.merckmanuals.com/professional/sec16/ch224/ch224k.html]",['DO_infectious_disease_slim'],"['ICD10CM:G04.1', 'MESH:D015493', 'NCI:C179058', 'OMIM:159580', 'SNOMEDCT_US_2022_09_01:45129002', 'UMLS_CUI:C0030481']",['DOID:934']
8233,3210,Pelizaeus-Merzbacher disease,"""A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK560522/, url:https\://www.ncbi.nlm.nih.gov/pubmed/15627202, url:https\://www.ncbi.nlm.nih.gov/pubmed/2773936, url:https\://www.ncbi.nlm.nih.gov/pubmed/3476455]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4265', 'MESH:D020371', 'NCI:C75487', 'OMIM:312080', 'ORDO:702', 'SNOMEDCT_US_2022_09_01:64855000', 'UMLS_CUI:C0205711']",['DOID:0060786']
8234,3211,lysosomal storage disease,"""An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function."" [url:http\://en.wikipedia.org/wiki/Lysosomal_storage_disease]","['DO_FlyBase_slim', 'NCIthesaurus']","['MESH:D016464', 'NCI:C61250', 'SNOMEDCT_US_2022_09_01:23585005', 'UMLS_CUI:C0085078']",['DOID:655']
8235,3213,demyelinating disease,"""A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17071802]",['NCIthesaurus'],"['MESH:D003711', 'NCI:C34527', 'UMLS_CUI:C0011303']",['DOID:331']
8238,322,myelitis,"""A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord."" [url:https\://en.wikipedia.org/wiki/Myelitis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7130', 'MESH:D009187', 'NCI:C26832', 'SNOMEDCT_US_2022_09_01:192682002', 'UMLS_CUI:C0026975']",['DOID:319']
8245,3234,central nervous system lymphoma,"""A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system."" [url:https\://www.lls.org/lymphoma/non-hodgkin-lymphoma/treatment/treatment-for-aggressive-nhl-subtypes/central-nervous-system-cns-lymphoma]",['NCIthesaurus'],"['ICD9CM:200.5', 'NCI:C9301', 'SNOMEDCT_US_2022_09_01:69110006', 'UMLS_CUI:C0280803']",['DOID:3620']
8246,3240,aspiration pneumonitis,"""A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disease has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration."" [url:http\://www.nejm.org/doi/full/10.1056/NEJM200103013440908]",['NCIthesaurus'],"['ICD10CM:J69.0', 'MESH:D011015', 'SNOMEDCT_US_2022_09_01:47839005', 'UMLS_CUI:C0032290']",['DOID:552']
8248,3246,embryonal rhabdomyosarcoma,"""A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs."" [url:http\://en.wikipedia.org/wiki/Embryonal_rhabdomyosarcoma, url:http\://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/Patient/page1]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:4702', 'ICDO:8910/3', 'MESH:D018233', 'NCI:C8971', 'OMIM:268210', 'ORDO:99757', 'SNOMEDCT_US_2022_09_01:404051002', 'UMLS_CUI:C0206656']",['DOID:3247']
8249,3247,rhabdomyosarcoma,"""A skeletal muscle cancer that arise from skeletal muscle progenitors."" [url:http\://en.wikipedia.org/wiki/Rhabdomyosarcoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8900/3', 'MESH:D012208', 'NCI:C3359', 'SNOMEDCT_US_2022_09_01:302847003', 'UMLS_CUI:C0035412']",['DOID:4043']
8251,3251,prostate embryonal rhabdomyosarcoma,"""A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863144/]",['NCIthesaurus'],"['NCI:C5525', 'UMLS_CUI:C1335508']",['DOID:3252']
8252,3252,prostate rhabdomyosarcoma,"""A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26776454, url:https\://www.ncbi.nlm.nih.gov/pubmed/29468476]",['NCIthesaurus'],"['NCI:C5522', 'UMLS_CUI:C1335518']",['DOID:4054']
8254,3254,bile duct rhabdomyosarcoma,"""A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct."" [url:http\://en.wikipedia.org/wiki/Rhabdomyosarcoma]",['NCIthesaurus'],"['NCI:C5860', 'UMLS_CUI:C2064434']",['DOID:3247']
8256,3258,orbit embryonal rhabdomyosarcoma,"""An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/]",['NCIthesaurus'],"['NCI:C6246', 'UMLS_CUI:C1335127']",['DOID:3259']
8257,3259,orbit rhabdomyosarcoma,"""An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children."" [url:https\://eyewiki.aao.org/Orbital_Rhabdomyosarcoma, url:https\://link.springer.com/chapter/10.1007/978-1-4613-2029-6_14, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/]",['NCIthesaurus'],"['MESH:C537605', 'NCI:C4543', 'SNOMEDCT_US_2022_09_01:254994000', 'UMLS_CUI:C0346347']",['DOID:9987']
8258,326,ischemia,"""A vascular disease that is characterized by a restriction in blood supply to tissues."" [url:http\://en.wikipedia.org/wiki/Ischemia]",['NCIthesaurus'],"['MESH:D007511', 'NCI:C34738', 'SNOMEDCT_US_2022_09_01:52674009', 'UMLS_CUI:C0022116']",['DOID:178']
8260,3261,hyper IgE recurrent infection syndrome 1,"""A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21."" [url:https\://www.niaid.nih.gov/diseases-conditions/hyper-immunoglobulin-e-syndrome-hies]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6800', 'MESH:D007589', 'NCI:C126342', 'NCI:C126343', 'OMIM:147060', 'ORDO:2314', 'UMLS_CUI:C1968689', 'UMLS_CUI:C2936739']",['DOID:0080545']
8262,3263,piebaldism,"""An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in either KIT or SNAI2 on chromosome 4q12 or 8q11.21, respectively."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12955764, url:https\://www.ncbi.nlm.nih.gov/pubmed/15485525, url:https\://www.ncbi.nlm.nih.gov/pubmed/1717985]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4344', 'ICD10CM:E70.39', 'MESH:D016116', 'NCI:C85009', 'OMIM:172800', 'ORDO:2884', 'SNOMEDCT_US_2022_09_01:718122005', 'UMLS_CUI:C0080024']",['DOID:16']
8264,3265,chronic granulomatous disease,"""A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs,  liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed."" [url:http\://en.wikipedia.org/wiki/Chronic_granulomatous_disease, url:https\://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/, url:https\://rarediseases.org/rare-diseases/chronic-granulomatous-disease/, url:https\://www.ncbi.nlm.nih.gov/books/NBK99496/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6100', 'ICD10CM:D71', 'MESH:D006105', 'NCI:C26788', 'OMIM:PS306400', 'ORDO:379', 'SNOMEDCT_US_2022_09_01:11210002', 'UMLS_CUI:C0018203']",['DOID:3262']
8265,3267,mucinous ovarian cystadenoma,"""An ovarian cystadenoma that is characterized by the presence of mucin."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22476372]",['NCIthesaurus'],"['NCI:C4512', 'SNOMEDCT_US_2022_09_01:119422004', 'UMLS_CUI:C0346172']",['DOID:3269']
8266,3269,ovarian cystadenoma,"""An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27244785]",['NCIthesaurus'],"['NCI:C4060', 'SNOMEDCT_US_2022_09_01:198297004', 'UMLS_CUI:C0346169']",['DOID:0060112']
8268,3274,proliferative type fibrocystic change of breast,"""A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia."" [url:https\://pubmed.ncbi.nlm.nih.gov/34967547/]",['NCIthesaurus'],"['NCI:C8365', 'SNOMEDCT_US_2022_09_01:35813005', 'UMLS_CUI:C0334056']",['DOID:10354']
8269,3275,thymoma,"""A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus."" [url:http\://cancergenome.nih.gov/cancersselected/Thymoma, url:http\://en.wikipedia.org/wiki/Thymoma, url:http\://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8580/3', 'MESH:D013945', 'NCI:C3411', 'SNOMEDCT_US_2022_09_01:444231005', 'UMLS_CUI:C0040100']",['DOID:3277']
8270,3277,thymus cancer,"""An immune system cancer located_in the thymus."" [url:http\://en.wikipedia.org/wiki/Thymus]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C37', 'ICD9CM:164.0', 'MESH:D013953', 'NCI:C4962', 'SNOMEDCT_US_2022_09_01:94096009', 'UMLS_CUI:C0751552']",['DOID:0060083']
8275,3282,thymoma type B,"""A thymoma that is an epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC9964105/]",['NCIthesaurus'],"['NCI:C7114', 'ORDO:263317', 'SNOMEDCT_US_2022_09_01:1144924007', 'UMLS_CUI:C1328042']",['DOID:3275']
8277,3284,thymic carcinoma,"""A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found."" [url:http\://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8586/3', 'MESH:D013945', 'NCI:C7569', 'SNOMEDCT_US_2022_09_01:128717008', 'UMLS_CUI:C0205969']",['DOID:3277']
8278,3292,mpox,"""A viral infectious disease that results in infection of primates, rodents and humans, located in skin, has_material_basis_in Monkeypox virus, which is transmitted by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted by fomites, and transmitted by respiratory droplets. The infection has symptom fever, has symptom muscle ache, has symptom headache, and has symptom lymphadenopathy."" [url:http\://www.cdc.gov/ncidod/monkeypox/factsheet2.htm, url:https\://www.who.int/news/item/28-11-2022-who-recommends-new-name-for-monkeypox-disease]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:10722', 'ICD10CM:B04', 'ICD9CM:059.01', 'MESH:D045908', 'NCI:C128421', 'SNOMEDCT_US_2022_09_01:240466002', 'UMLS_CUI:C0276180']",['DOID:934']
8279,3298,vaccinia,"""A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches."" [url:http\://en.wikipedia.org/wiki/Vaccinia, url:https\://www.cdc.gov/smallpox/clinicians/vaccines.html]",['DO_infectious_disease_slim'],"['MESH:D014615', 'SNOMEDCT_US_2022_09_01:111852003', 'UMLS_CUI:C0042214']",['DOID:934']
8280,3301,gonadoblastoma,"""A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells)."" [url:http\://en.wikipedia.org/wiki/Gonadoblastoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9073/1', 'MESH:D018238', 'NCI:C3754', 'OMIM:424500', 'SNOMEDCT_US_2022_09_01:74751003', 'UMLS_CUI:C0206661']",['DOID:0060084']
8281,3302,chordoma,"""A notochordal cancer that derives_from cellular remnants of the notochord."" [url:http\://en.wikipedia.org/wiki/Chordoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:1303', 'ICDO:9370/3', 'MESH:D002817', 'NCI:C2947', 'SNOMEDCT_US_2022_09_01:50007008', 'UMLS_CUI:C0008487']",['DOID:3303']
8282,3303,notochordal cancer,"""An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord."" [url:http\://en.wikipedia.org/wiki/Notochord]",['NCIthesaurus'],"['NCI:C7063', 'UMLS_CUI:C1335069']",['DOID:184']
8283,3304,germinoma,"""A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain."" [url:http\://en.wikipedia.org/wiki/Germinoma, url:https\://en.wikipedia.org/wiki/Germinoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9064/3', 'MESH:D018237', 'SNOMEDCT_US_2022_09_01:154603000', 'UMLS_CUI:C0206660']",['DOID:2994']
8284,3305,teratocarcinoma,"""A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both."" [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9081/3', 'MESH:D018243', 'NCI:C3756', 'SNOMEDCT_US_2022_09_01:67830002', 'UMLS_CUI:C0206664']",['DOID:3095']
8285,3306,mixed germ cell cancer,"""A germ cell cancer that occurs in many forms."" [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9085/3', 'NCI:C4290', 'SNOMEDCT_US_2022_09_01:189853002', 'UMLS_CUI:C0334524']",['DOID:2994']
8286,3307,teratoma,"""A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers."" [url:http\://en.wikipedia.org/wiki/Teratoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9080/3', 'MESH:D013724', 'NCI:C3403', 'SNOMEDCT_US_2022_09_01:36591000119102', 'UMLS_CUI:C0039538']",['DOID:3095']
8287,3308,embryonal carcinoma,"""An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes."" [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:5140', 'ICDO:9070/3', 'MESH:D018236', 'NCI:C3752', 'NCI:C8880', 'SNOMEDCT_US_2022_09_01:1156454002', 'UMLS_CUI:C0206659', 'UMLS_CUI:C0855159']",['DOID:688']
8288,3309,neurodermatitis,"""A dermatitis that is characterized by chronic itching or scaling."" [url:https\://www.mayoclinic.org/diseases-conditions/neurodermatitis/symptoms-causes/syc-20375634]",['NCIthesaurus'],"['MESH:D009450', 'NCI:C111963', 'SNOMEDCT_US_2022_09_01:156383005', 'UMLS_CUI:C0027822']",['DOID:2723']
8289,331,central nervous system disease,"""A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system."" [url:http\://en.wikipedia.org/wiki/Central_nervous_system_disease]","['DO_AGR_slim', 'DO_CFDE_slim', 'DO_GXD_slim', 'NCIthesaurus']","['ICD10CM:G96.9', 'MESH:D002493', 'NCI:C2934', 'SNOMEDCT_US_2022_09_01:267144009', 'UMLS_CUI:C0007682']",['DOID:863']
8291,3312,bipolar disorder,"""A mood disorder that involves alternating periods of mania and depression."" [url:http\://en.wikipedia.org/wiki/Mood_disorder]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0000289', 'GARD:10249', 'ICD10CM:F31', 'ICD9CM:296.40', 'ICD9CM:296.60', 'ICD9CM:296.80', 'MESH:D001714', 'NCI:C34423', 'NCI:C34424', 'NCI:C34805', 'SNOMEDCT_US_2022_09_01:16506000', 'SNOMEDCT_US_2022_09_01:191627008', 'SNOMEDCT_US_2022_09_01:192355004', 'SNOMEDCT_US_2022_09_01:68569003', 'UMLS_CUI:C0005586', 'UMLS_CUI:C0005587', 'UMLS_CUI:C0024713', 'UMLS_CUI:C0236780']",['DOID:3324']
8292,3314,angiomyolipoma,"""A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells."" [url:http\://en.wikipedia.org/wiki/Angiomyolipoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/9503504]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8860/0', 'MESH:D018207', 'NCI:C3734', 'SNOMEDCT_US_2022_09_01:19929002', 'UMLS_CUI:C0206633']",['DOID:0060084']
8293,3315,lipoma,"""A cell type benign neoplasm that is composed of lipocytes."" [url:http\://en.wikipedia.org/wiki/Benign_tumor]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:D17', 'ICD10CM:D17.9', 'ICD9CM:214', 'ICDO:8850/0', 'MESH:D008067', 'MESH:D018205', 'NCI:C3192', 'NCI:C4248', 'NCI:C4502', 'OMIM:151900', 'SNOMEDCT_US_2022_09_01:115227001', 'SNOMEDCT_US_2022_09_01:154612003', 'SNOMEDCT_US_2022_09_01:254830006', 'UMLS_CUI:C0023798', 'UMLS_CUI:C0206631', 'UMLS_CUI:C0346118']",['DOID:0060084']
8297,3319,lymphangioleiomyomatosis,"""A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas."" [url:https\://pubmed.ncbi.nlm.nih.gov/31610670/]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:3319', 'ICDO:9174/1', 'NCI:C38153', 'OMIM:606690', 'ORDO:538', 'SNOMEDCT_US_2022_09_01:277844007', 'UMLS_CUI:C0349649']",['DOID:850']
8298,332,amyotrophic lateral sclerosis,"""A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing."" [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis, url:http\://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['EFO:0000253', 'GARD:5786', 'ICD10CM:G12.21', 'ICD9CM:335.20', 'KEGG:05014', 'MESH:D000690', 'NCI:C34373', 'OMIM:PS105400', 'ORDO:803', 'SNOMEDCT_US_2022_09_01:86044005', 'UMLS_CUI:C0002736']",['DOID:231']
8299,3320,Tay-Sachs disease,"""A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23."" [url:https\://medlineplus.gov/genetics/condition/tay-sachs-disease/, url:https\://www.ncbi.nlm.nih.gov/books/NBK1218/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7737', 'ICD10CM:E75.02', 'MESH:D013661', 'NCI:C85184', 'OMIM:272800', 'SNOMEDCT_US_2022_09_01:111385000', 'UMLS_CUI:C0039373']",['DOID:3321']
8301,3322,GM1 gangliosidosis,"""A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside."" [url:https\://ghr.nlm.nih.gov/condition/gm1-gangliosidosis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10891', 'ICD10CM:E75.19', 'MESH:D016537', 'NCI:C84739', 'SNOMEDCT_US_2022_09_01:32917001', 'UMLS_CUI:C0085131']",['DOID:2368']
8302,3323,Sandhoff disease,"""A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13."" [url:https\://ghr.nlm.nih.gov/condition/sandhoff-disease]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7604', 'ICD10CM:E75.01', 'MESH:D012497', 'NCI:C85052', 'OMIM:268800', 'SNOMEDCT_US_2022_09_01:23849003', 'UMLS_CUI:C0036161']",['DOID:3321']
8303,3324,mood disorder,"""A cognitive disorder that involves a disturbance in mood as the predominant underlying feature."" [url:https\://en.wikipedia.org/wiki/Mood_disorder]",['NCIthesaurus'],"['EFO:0004247', 'ICD10CM:F39', 'MESH:D019964', 'NCI:C92200', 'SNOMEDCT_US_2022_09_01:46206005', 'UMLS_CUI:C0525045']",['DOID:1561']
8308,3329,benign epilepsy with centrotemporal spikes,"""A childhood electroclinical syndrome characterized by partial seizures involving the rolandic area of the brain and electroencephalographic centrotemporal sharp waves."" [url:https\://pubmed.ncbi.nlm.nih.gov/19172991/, url:https\://www.ncbi.nlm.nih.gov/books/NBK534845/]",['DO_rare_slim'],"['GARD:10287', 'MESH:D019305', 'OMIM:117100', 'ORDO:1945', 'UMLS_CUI:C0376532']",['DOID:0050704']
8311,3332,haemonchiasis,"""A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue."" [url:http\://en.wikipedia.org/wiki/Haemonchus_contortus]",['DO_infectious_disease_slim'],"['MESH:D006188', 'UMLS_CUI:C0018477']",['DOID:1255']
8312,334,histrionic personality disorder,"""A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood."" [url:http\://en.wikipedia.org/wiki/Histrionic_personality_disorder]",['NCIthesaurus'],"['ICD10CM:F60.4', 'ICD9CM:301.5', 'MESH:D006677', 'NCI:C92634', 'SNOMEDCT_US_2022_09_01:192489002', 'UMLS_CUI:C0019681']",['DOID:1510']
8313,3341,osteitis fibrosa,"""A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone."" [url:http\://en.wikipedia.org/wiki/Osteitis_fibrosa_cystica, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001252.htm]",['NCIthesaurus'],"['MESH:D010002', 'NCI:C34875', 'SNOMEDCT_US_2022_09_01:190451000', 'UMLS_CUI:C0029405']",['DOID:0080011']
8315,3343,glycoproteinosis,"""A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase)."" [url:http\://en.wikipedia.org/wiki/Sialidosis, url:https\://en.wikipedia.org/wiki/Glycoproteinosis, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:10670', 'MESH:D009081', 'NCI:C61267', 'OMIM:256550', 'SNOMEDCT_US_2022_09_01:70528007', 'UMLS_CUI:C0026697']",['DOID:0080488']
8317,3347,osteosarcoma,"""A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin."" [url:http\://en.wikipedia.org/wiki/Osteosarcoma, url:http\://www.cancer.gov/dictionary?cdrid=45395]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7284', 'ICDO:9180/3', 'MESH:D012516', 'MESH:D018213', 'NCI:C9145', 'OMIM:259500', 'ORDO:668', 'SNOMEDCT_US_2022_09_01:189878003', 'UMLS_CUI:C0029463', 'UMLS_CUI:C0206639']",['DOID:0080639']
8318,3350,mesenchymal cell neoplasm,"""A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system."" [url:http\://en.wikipedia.org/wiki/Mesenchymal_cell, url:http\://www.ncbi.nlm.nih.gov/books/NBK9549/]",['NCIthesaurus'],"['NCI:C6587', 'NCI:C7059', 'UMLS_CUI:C1332517', 'UMLS_CUI:C1334699']",['DOID:0050687']
8322,3355,fibrosarcoma,"""A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern."" [url:http\://en.wikipedia.org/wiki/Fibrosarcoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:2327', 'ICDO:8810/3', 'MESH:D005354', 'MESH:D018218', 'NCI:C3043', 'NCI:C6605', 'NCI:C7075', 'SNOMEDCT_US_2022_09_01:443250000', 'UMLS_CUI:C0016057', 'UMLS_CUI:C0206643', 'UMLS_CUI:C1336021']",['DOID:201']
8329,3368,Ewing sarcoma of bone,"""A peripheral primitive neuroectodermal tumor that is located_in bone."" [url:http\://en.wikipedia.org/wiki/Ewing%27s_sarcoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C35871', 'NCI:C4835', 'NCI:C6623', 'SNOMEDCT_US_2022_09_01:307608006', 'UMLS_CUI:C0585474', 'UMLS_CUI:C1333481', 'UMLS_CUI:C1334406']",['DOID:3369']
8330,3369,Ewing sarcoma,"""A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm."" [url:http\://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor, url:http\://www.cancer.gov/dictionary?cdrid=383924]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6390', 'ICDO:9364/3', 'MESH:C563168', 'MESH:D012512', 'MESH:D018241', 'NCI:C27901', 'NCI:C27903', 'NCI:C4817', 'NCI:C7542', 'NCI:C7806', 'NCI:C9341', 'OMIM:612219', 'SNOMEDCT_US_2022_09_01:134210007', 'SNOMEDCT_US_2022_09_01:73676002', 'SNOMEDCT_US_2022_09_01:76909002', 'UMLS_CUI:C0553580', 'UMLS_CUI:C0684337', 'UMLS_CUI:C0796547', 'UMLS_CUI:C0863029', 'UMLS_CUI:C0877849', 'UMLS_CUI:C1334408']",['DOID:201']
8332,3371,chondrosarcoma,"""A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage."" [url:http\://en.wikipedia.org/wiki/Chondrosarcoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6004', 'GARD:6055', 'ICDO:9220/3', 'MESH:D002813', 'NCI:C2946', 'NCI:C7155', 'OMIM:215300', 'SNOMEDCT_US_2022_09_01:443520009', 'SNOMEDCT_US_2022_09_01:735679005', 'UMLS_CUI:C0008479', 'UMLS_CUI:C1335473']",['DOID:0080639']
8340,3382,liposarcoma,"""A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities."" [url:http\://en.wikipedia.org/wiki/Liposarcoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6913', 'ICDO:8850/3', 'MESH:D008080', 'NCI:C3194', 'SNOMEDCT_US_2022_09_01:254829001', 'UMLS_CUI:C0023827']",['DOID:201']
8341,3385,bacterial vaginosis,"""A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bacterial+vaginosis]","['DO_infectious_disease_slim', 'NCIthesaurus']","['MESH:D016585', 'NCI:C116973', 'SNOMEDCT_US_2022_09_01:237092002', 'UMLS_CUI:C0085166']",['DOID:2170']
8342,3388,periodontal disease,"""A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth."" [url:https\://www.nidcr.nih.gov/health-info/gum-disease/more-info]",['NCIthesaurus'],"['ICD10CM:K05.6', 'MESH:D010510', 'NCI:C63743', 'SNOMEDCT_US_2022_09_01:196354003', 'UMLS_CUI:C0031090']",['DOID:403']
8343,3389,Papillon-Lefevre disease,"""An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14."" [url:https\://en.wikipedia.org/wiki/Papillon–Lefevre_syndrome, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507741/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:3100', 'MESH:D010214', 'NCI:C84992', 'OMIM:245000', 'ORDO:678', 'SNOMEDCT_US_2022_09_01:40158001', 'UMLS_CUI:C0030360']",['DOID:2121']
8344,339,accessory nerve disease,"""A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve)."" [url:https\://en.wikipedia.org/wiki/Accessory_nerve_disorder]",['NCIthesaurus'],"['ICD9CM:352.4', 'MESH:D020436', 'NCI:C26953', 'SNOMEDCT_US_2022_09_01:84759007', 'UMLS_CUI:C0152180']",['DOID:3418']
8345,3390,palmoplantar keratosis,"""A keratosis characterized by abnormal thickening of the palms and the soles."" [url:http\://en.wikipedia.org/wiki/Palmoplantar_keratoderma]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8167', 'ICD10CM:L85.2', 'SNOMEDCT_US_2022_09_01:28596004', 'UMLS_CUI:C0022596']",['DOID:161']
8346,3393,coronary artery disease,"""An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles."" [url:http\://en.wikipedia.org/wiki/Coronary_heart_disease]","['DO_RAD_slim', 'NCIthesaurus']","['EFO:0001645', 'ICD10CM:I20-I25', 'ICD10CM:I25', 'ICD10CM:I25.10', 'ICD9CM:410-414.99', 'ICD9CM:414.0', 'ICD9CM:414.9', 'MESH:D003324', 'MESH:D003327', 'MESH:D017202', 'NCI:C35505', 'NCI:C50625', 'OMIM:300464', 'OMIM:607339', 'OMIM:608316', 'OMIM:608318', 'OMIM:608320', 'OMIM:610947', 'OMIM:611139', 'OMIM:612030', 'OMIM:614293', 'SNOMEDCT_US_2022_09_01:194852007', 'SNOMEDCT_US_2022_09_01:233822007', 'SNOMEDCT_US_2022_09_01:41702007', 'SNOMEDCT_US_2022_09_01:53741008', 'UMLS_CUI:C0010054', 'UMLS_CUI:C0010068', 'UMLS_CUI:C0151744', 'UMLS_CUI:C0264694']",['DOID:0050828']
8347,3401,inappropriate ADH syndrome,"""A pituitary gland disease resulting from excessive production of antidiuretic hormone (ADH)."" [url:https\://medlineplus.gov/ency/article/000314.htm]",['NCIthesaurus'],"['ICD10CM:E22.2', 'MESH:D007177', 'NCI:C3988', 'SNOMEDCT_US_2022_09_01:55004003', 'UMLS_CUI:C0021141']",['DOID:53']
8348,3405,histiocytosis,"""A lymphatic system disease that is characterized by an excessive number of histiocytes."" [url:http\://en.wikipedia.org/wiki/Histiocytosis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000068.htm]",['NCIthesaurus'],"['MESH:D015614', 'NCI:C3106', 'SNOMEDCT_US_2022_09_01:60657004', 'UMLS_CUI:C0019618']",['DOID:75']
8352,3413,alpha-mannosidosis,"""A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome."" [url:http\://en.wikipedia.org/wiki/Alpha-mannosidosis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6968', 'MESH:D008363', 'NCI:C84548', 'OMIM:248500', 'SNOMEDCT_US_2022_09_01:65524005', 'UMLS_CUI:C0024748']",['DOID:3211']
8360,3429,inclusion body myositis,"""A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle."" [url:http\://en.wikipedia.org/wiki/Inclusion_body_myositis, url:https\://ghr.nlm.nih.gov/condition/idiopathic-inflammatory-myopathy]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:3896', 'ICD10CM:G72.41', 'ICD9CM:359.71', 'MESH:D018979', 'NCI:C84786', 'OMIM:147421', 'ORDO:611', 'SNOMEDCT_US_2022_09_01:72315009', 'UMLS_CUI:C0238190']",['DOID:633']
8361,3431,cerebritis,"""A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition."" [url:https\://en.wikipedia.org/wiki/Cerebritis]",['NCIthesaurus'],"['NCI:C27199', 'UMLS_CUI:C0742115']",['DOID:936']
8362,3436,viral laryngitis,"""A acute laryngitis which is caused by viral infection."" [url:http\://www.merck.com/mmpe/sec08/ch092/ch092d.html]","['DO_infectious_disease_slim', 'NCIthesaurus']","['NCI:C27305', 'SNOMEDCT_US_2022_09_01:441551009', 'UMLS_CUI:C0853195']",['DOID:9396']
8363,3437,laryngitis,"""A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption."" [url:http\://en.wikipedia.org/wiki/Laryngitis]",['NCIthesaurus'],"['MESH:D007827', 'NCI:C26811', 'SNOMEDCT_US_2022_09_01:45913009', 'UMLS_CUI:C0023067']",['DOID:786']
8364,3443,mammary Paget's disease,"""A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371672/]",['NCIthesaurus'],"['NCI:C7073', 'UMLS_CUI:C1368019']",['DOID:3458']
8368,3447,anus adenocarcinoma,"""An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C5600', 'SNOMEDCT_US_2022_09_01:423607006', 'UMLS_CUI:C1332257']",['DOID:4908']
8370,3449,penis carcinoma,"""A penile cancer that is located_in the skin or tissues of the penis."" [url:http\://en.wikipedia.org/wiki/Carcinoma_of_the_penis]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C9061', 'SNOMEDCT_US_2022_09_01:372106005', 'UMLS_CUI:C0853105']",['DOID:11615']
8371,345,uterine disease,"""A female reproductive system disease that is located_in the uterus."" [url:http\://www.merriam-webster.com/dictionary/uterus]",['NCIthesaurus'],"['ICD10CM:N85.9', 'ICD9CM:621.9', 'MESH:D014591', 'NCI:C26907', 'SNOMEDCT_US_2022_09_01:237068005', 'UMLS_CUI:C0042131']",['DOID:229']
8372,3450,cutaneous Paget's disease,"""A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli."" [url:https\://ncit.nci.nih.gov/ncitbrowser/pages/home.jsf;jsessionid=C48DBFA9A55E2FE31390EDF86D581ABE]",['NCIthesaurus'],"['MESH:D010145', 'NCI:C3302']",['DOID:3451']
8373,3451,skin carcinoma,"""A skin cancer that is located_in tissues of the skin and develops from epithelial cells."" [url:http\://www.cancer.gov/cancertopics/types/skin]","['DO_RAD_slim', 'NCIthesaurus']","['NCI:C4914', 'UMLS_CUI:C0699893']",['DOID:4159']
8376,3457,invasive lobular carcinoma,"""A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated."" [url:http\://www.breastcancer.org/symptoms/types/ilc, url:https\://www.ncbi.nlm.nih.gov/pubmed/25849106]",['NCIthesaurus'],"['MESH:D018275', 'NCI:C3771', 'SNOMEDCT_US_2022_09_01:89740008', 'UMLS_CUI:C0206692']",['DOID:0050938']
8377,3458,breast adenocarcinoma,"""A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast."" [url:http\://www.virtualmedicalcentre.com/diseases.asp?did=696]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C5214', 'SNOMEDCT_US_2022_09_01:865954003', 'UMLS_CUI:C0858252']",['DOID:3459']
8378,3459,breast carcinoma,"""A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:http\://en.wikipedia.org/wiki/Breast_cancer]","['DO_cancer_slim', 'NCIthesaurus']","['EFO:0000305', 'MESH:D001943', 'NCI:C4872', 'SNOMEDCT_US_2022_09_01:154513000', 'UMLS_CUI:C0678222']",['DOID:1612']
8379,3463,breast disease,"""A thoracic disease that is located_in the breast."" [url:http\://www.nlm.nih.gov/medlineplus/breastdiseases.html]",['NCIthesaurus'],"['ICD10CM:N64.9', 'ICD9CM:610-612.99', 'MESH:D001941', 'NCI:C26709', 'SNOMEDCT_US_2022_09_01:79604008', 'UMLS_CUI:C0006145']",['DOID:0060118']
8381,3479,uveal cancer,"""An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes."" [url:https\://www.umkelloggeye.org/conditions-treatments/uveal-melanoma-ocular-melanoma]",['NCIthesaurus'],"['NCI:C6105', 'UMLS_CUI:C3665670']",['DOID:2174']
8383,3480,uveal disease,"""An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26908]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8192', 'MESH:D014603', 'NCI:C26908', 'SNOMEDCT_US_2022_09_01:95678007', 'UMLS_CUI:C0042161']",['DOID:5614']
8384,3481,septicemic plague,"""A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs."" [url:http\://en.wikipedia.org/wiki/Plague_%28disease%29#Septicemic_plague, url:http\://www.cdc.gov/ncidod/dvbid/plague/facts.htm]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'zoonotic_infectious_disease']","['ICD10CM:A20.7', 'ICD9CM:020.2', 'MESH:D010930', 'SNOMEDCT_US_2022_09_01:9012003', 'UMLS_CUI:C0152936']",['DOID:3482']
8385,3482,plague,"""A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/29628173]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'zoonotic_infectious_disease']","['ICD10CM:A20', 'ICD9CM:020', 'MESH:D010930', 'NCI:C85015', 'SNOMEDCT_US_2022_09_01:58750007', 'UMLS_CUI:C0032064']",['DOID:0050338']
8387,3488,cellulitis,"""A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion."" [url:http\://en.wikipedia.org/wiki/Cellulitis]",['NCIthesaurus'],"['ICD10CM:L03.90', 'MESH:D002481', 'NCI:C26715', 'NCI:C34454', 'SNOMEDCT_US_2022_09_01:267833003', 'SNOMEDCT_US_2022_09_01:74276003', 'UMLS_CUI:C0007642', 'UMLS_CUI:C0007646']",['DOID:37']
8389,3490,Noonan syndrome,"""A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms."" [url:https\://ghr.nlm.nih.gov/condition/noonan-syndrome#definition, url:https\://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:10955', 'ICD10CM:Q87.19', 'MESH:D009634', 'NCI:C34854', 'OMIM:PS163950', 'ORDO:648', 'SNOMEDCT_US_2022_09_01:88327006', 'UMLS_CUI:C0028326']",['DOID:0080690']
8390,3491,Turner syndrome,"""A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome."" [url:https\://ghr.nlm.nih.gov/condition/turner-syndrome, url:https\://rarediseases.org/rare-diseases/turner-syndrome/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2540', 'GARD:7831', 'ICD10CM:Q96', 'MESH:D014424', 'NCI:C26900', 'NCI:C34434', 'SNOMEDCT_US_2022_09_01:38804009', 'UMLS_CUI:C0041408', 'UMLS_CUI:C1527168']",['DOID:14447']
8391,3492,mixed connective tissue disease,"""A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen."" [url:http\://www.merckmanuals.com/professional/sec04/ch032/ch032c.html]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7051', 'ICD10CM:M35.1', 'MESH:D008947', 'NCI:C84892', 'SNOMEDCT_US_2022_09_01:33110008', 'UMLS_CUI:C0026272']",['DOID:854']
8392,3493,signet ring cell adenocarcinoma,"""An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance."" [url:http\://en.wikipedia.org/wiki/Signet_ring_cell_carcinoma]",['NCIthesaurus'],"['MESH:D018279', 'NCI:C3774', 'SNOMEDCT_US_2022_09_01:189701002', 'UMLS_CUI:C0206696']",['DOID:299']
8394,3495,extrahepatic bile duct adenocarcinoma,"""An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C7975', 'UMLS_CUI:C0279659']",['DOID:4682']
8396,3498,pancreatic ductal adenocarcinoma,"""A pancreatic adenocarcinoma that derives_from pancreatic duct cells."" [url:http\://cancergenome.nih.gov/cancersselected/PancreaticDuctalAdenocarcinoma, url:http\://en.wikipedia.org/wiki/Pancreatic_cancer]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C9120', 'SNOMEDCT_US_2022_09_01:792907004', 'UMLS_CUI:C1335302']",['DOID:4074']
8399,3500,gallbladder adenocarcinoma,"""A gallbladder carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C9166', 'UMLS_CUI:C0279651']",['DOID:4948']
8401,3502,ampulla of Vater adenocarcinoma,"""An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C6650', 'UMLS_CUI:C1332243']",['DOID:4932']
8402,3503,breast signet ring cell adenocarcinoma,"""A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751374/]",['NCIthesaurus'],"['NCI:C5175', 'UMLS_CUI:C1335964']",['DOID:3458']
8404,3507,dermatofibrosarcoma protuberans,"""A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly."" [url:http\://en.wikipedia.org/wiki/Dermatofibrosarcoma_protuberans, url:http\://www.cancer.gov/dictionary?CdrID=44276]","['DO_cancer_slim', 'DO_rare_slim']","['GARD:9569', 'ICDO:8832/1', 'MESH:D018223', 'OMIM:607907', 'SNOMEDCT_US_2022_09_01:302844005', 'UMLS_CUI:C0206647']",['DOID:3355']
8410,3522,lateral medullary syndrome,"""A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome."" [url:https\://en.wikipedia.org/wiki/Lateral_medullary_syndrome]",['NCIthesaurus'],"['ICD10CM:G46.3', 'MESH:D014854', 'NCI:C84807', 'SNOMEDCT_US_2022_09_01:78569004', 'UMLS_CUI:C0043019']",['DOID:3523']
8413,3526,cerebral infarction,"""A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain."" [url:https\://en.wikipedia.org/wiki/Cerebral_infarction]",['NCIthesaurus'],"['ICD10CM:I63', 'MESH:D002544', 'NCI:C50486', 'OMIM:601367', 'SNOMEDCT_US_2022_09_01:195188006', 'UMLS_CUI:C0007785']",['DOID:3454']
8416,3529,congenital myopathy 1A,"""A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe."" [url:https\://medlineplus.gov/genetics/condition/central-core-disease/, url:https\://pubmed.ncbi.nlm.nih.gov/23553484/, url:https\://pubmed.ncbi.nlm.nih.gov/34627702/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6014', 'ICD10CM:G71.29', 'MESH:D020512', 'NCI:C83010', 'OMIM:117000', 'ORDO:597', 'SNOMEDCT_US_2022_09_01:43152001', 'UMLS_CUI:C0751951']",['DOID:0081337']
8418,3534,Lafora disease,"""A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19267391, url:https\://www.ncbi.nlm.nih.gov/pubmed/19469843]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:8214', 'MESH:D020192', 'NCI:C84804', 'OMIM:254780', 'SNOMEDCT_US_2022_09_01:230425004', 'UMLS_CUI:C0751783']",['DOID:891']
8419,3535,Unverricht-Lundborg syndrome,"""A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19469843]",['DO_rare_slim'],"['GARD:3876', 'MESH:D020194', 'NCI:C179710', 'SNOMEDCT_US_2022_09_01:192847001', 'UMLS_CUI:C0751785']",['DOID:891']
8420,3540,choroid plexus cancer,"""A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain."" [url:http\://en.wikipedia.org/wiki/Choroid_plexus]",['NCIthesaurus'],"['MESH:D016545', 'NCI:C3473', 'SNOMEDCT_US_2022_09_01:254942002', 'UMLS_CUI:C0085138']",['DOID:3541']
8421,3541,cerebral ventricle cancer,"""A cerebrum cancer that is located_in the cerebral ventricles."" [url:http\://en.wikipedia.org/wiki/Ventricular_system]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6025', 'ICD10CM:C71.5', 'ICD9CM:191.5', 'MESH:D002551', 'NCI:C2937', 'SNOMEDCT_US_2022_09_01:126958000', 'SNOMEDCT_US_2022_09_01:363471001', 'UMLS_CUI:C0007798', 'UMLS_CUI:C0346906']",['DOID:368']
8425,355,mast-cell sarcoma,"""A sarcoma that has_material_basis_in mast cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24745684]",['NCIthesaurus'],"['ICD10CM:C96.22', 'ICD9CM:202.6', 'MESH:D012515', 'NCI:C9348', 'SNOMEDCT_US_2022_09_01:118615008', 'UMLS_CUI:C0036221']",['DOID:1115']
8426,3557,superior mesenteric artery syndrome,"""A duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery."" [url:https\://rarediseases.org/rare-diseases/superior-mesenteric-artery-syndrome/, url:https\://www.ncbi.nlm.nih.gov/books/NBK482209/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7712', 'MESH:D013478', 'NCI:C85175', 'ORDO:622099', 'SNOMEDCT_US_2022_09_01:24988007', 'UMLS_CUI:C0038828']",['DOID:3558']
8428,3559,pseudomyxoma peritonei,"""An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis."" [url:http\://en.wikipedia.org/wiki/Pseudomyxoma_peritonei, url:http\://www.cancer.gov/dictionary?CdrID=44256, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/843/viewAbstract, url:https\://www.ncbi.nlm.nih.gov/pubmed/14567019]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7488', 'ICDO:8480/6', 'MESH:D011553', 'NCI:C3345', 'SNOMEDCT_US_2022_09_01:307601000', 'UMLS_CUI:C0033822']",['DOID:11239']
8429,3565,meningioma,"""A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges."" [url:http\://en.wikipedia.org/wiki/Meningioma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['GARD:7015', 'ICD10CM:D32.9', 'ICDO:9530/0', 'MESH:D008579', 'NCI:C3230', 'NCI:C6971', 'SNOMEDCT_US_2022_09_01:269643009', 'UMLS_CUI:C0025286', 'UMLS_CUI:C1334698']",['DOID:3620']
8430,3571,liver cancer,"""A hepatobiliary system cancer that is located_in the liver."" [url:http\://en.wikipedia.org/wiki/Liver]","['DO_cancer_slim', 'DO_CFDE_slim', 'DO_RAD_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C22.0', 'ICD10CM:C22.9', 'ICD9CM:155.0', 'ICD9CM:155.2', 'MESH:D008113', 'NCI:C34803', 'NCI:C7692', 'SNOMEDCT_US_2022_09_01:126851005', 'SNOMEDCT_US_2022_09_01:187771009', 'SNOMEDCT_US_2022_09_01:93870000', 'UMLS_CUI:C0023903', 'UMLS_CUI:C0024620', 'UMLS_CUI:C0345904', 'UMLS_CUI:C0854795']",['DOID:0080355']
8435,3577,Sertoli cell tumor,"""A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells."" [url:https\://en.wikipedia.org/wiki/Sertoli_cell_tumour]",['NCIthesaurus'],"['ICDO:8640/1', 'MESH:D012707', 'NCI:C39976', 'SNOMEDCT_US_2022_09_01:128857001', 'UMLS_CUI:C0036769']",['DOID:192']
8436,3578,ovarian gonadoblastoma,"""An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21879333]",['NCIthesaurus'],"['NCI:C39985', 'SNOMEDCT_US_2022_09_01:716594002', 'UMLS_CUI:C1518716']",['DOID:0060112']
8438,3587,pancreatic ductal carcinoma,"""A pancreatic carcinoma located_in the pancreatic duct."" [url:http\://en.wikipedia.org/wiki/Pancreatic_cancer, url:http\://en.wikipedia.org/wiki/Pancreatic_duct]",['DO_cancer_slim'],"['ICD10CM:C25.3', 'ICD9CM:157.3', 'MESH:D021441', 'SNOMEDCT_US_2022_09_01:93939009', 'UMLS_CUI:C0153461', 'UMLS_CUI:C0887833']",['DOID:4905']
8441,3594,choriocarcinoma,"""A placenta cancer that has_material_basis_in trophoblastic cells."" [url:https\://en.wikipedia.org/wiki/Choriocarcinoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6059', 'ICD10CM:C58', 'ICDO:9100/3', 'MESH:D002822', 'NCI:C2948', 'SNOMEDCT_US_2022_09_01:189444004', 'UMLS_CUI:C0008497']",['DOID:2021']
8442,3596,placental site trophoblastic tumor,"""A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14614893]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9104/1', 'MESH:D018245', 'NCI:C3757', 'SNOMEDCT_US_2022_09_01:75320001', 'UMLS_CUI:C0206666']",['DOID:3594']
8443,3602,toxic encephalopathy,"""A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems."" [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521923/, url:https\://en.wikipedia.org/wiki/Toxic_encephalopathy]",['NCIthesaurus'],"['MESH:D020258', 'NCI:C27961', 'SNOMEDCT_US_2022_09_01:19466003', 'UMLS_CUI:C0235032']",['DOID:863']
8444,3603,mucinous cystadenocarcinoma,"""A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells."" [url:https\://www.thehealthboard.com/what-is-a-mucinous-cystadenocarcinoma.htm]",['NCIthesaurus'],"['ICDO:8470/3', 'MESH:D018282', 'NCI:C3776', 'SNOMEDCT_US_2022_09_01:79143006', 'UMLS_CUI:C0206699']",['DOID:3111']
8445,3604,ovarian mucinous cystadenocarcinoma,"""An ovarian cystadenocarcinoma that is characterized by the presence of mucin."" [url:https\://en.wikipedia.org/wiki/Ovarian_mucinous_tumor]",['NCIthesaurus'],"['NCI:C4026', 'SNOMEDCT_US_2022_09_01:254851009', 'UMLS_CUI:C0279665']",['DOID:3605']
8446,3605,ovarian cystadenocarcinoma,"""An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces."" [url:https\://pubmed.ncbi.nlm.nih.gov/2196390/]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C5228', 'SNOMEDCT_US_2022_09_01:314191009', 'UMLS_CUI:C1096638']",['DOID:3713']
8447,3606,ovarian mucinous adenocarcinoma,"""An ovary adenocarcinoma that is characterized by the presence of mucin."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24487473]",['NCIthesaurus'],"['NCI:C5243', 'UMLS_CUI:C1335167']",['DOID:3713']
8449,3608,appendix adenocarcinoma,"""An appendix carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C7718', 'SNOMEDCT_US_2022_09_01:413445002', 'UMLS_CUI:C0238003']",['DOID:4902']
8450,3609,breast mucinous cystadenocarcinoma,"""A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643878/]",['NCIthesaurus'],"['NCI:C40354', 'UMLS_CUI:C1511318']",['DOID:3610']
8451,361,cervix endometriosis,"""A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21890095]",['NCIthesaurus'],"['ICD10CM:N80.0', 'NCI:C27623', 'SNOMEDCT_US_2022_09_01:61640006', 'UMLS_CUI:C0269107']",['DOID:2253']
8452,3610,breast mucinous carcinoma,"""A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout."" [url:http\://surgpathcriteria.stanford.edu/breast/mucincabr/, url:https\://www.ncbi.nlm.nih.gov/pubmed/24305754]",['NCIthesaurus'],"['NCI:C9131', 'SNOMEDCT_US_2022_09_01:444712000', 'UMLS_CUI:C1334807']",['DOID:3458']
8456,3614,Kallmann syndrome,"""A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26194704]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10771', 'ICD10CM:E23.0', 'MESH:D017436', 'NCI:C75479', 'ORDO:478', 'SNOMEDCT_US_2022_09_01:190559001', 'UMLS_CUI:C0162809']",['DOID:0090070']
8457,3615,infiltrating angiolipoma,"""An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue."" [url:https\://www.spandidos-publications.com/10.3892/ol.2014.2737]",['NCIthesaurus'],"['NCI:C7449', 'SNOMEDCT_US_2022_09_01:24045002', 'UMLS_CUI:C1305256']",['DOID:3616']
8458,3616,angiolipoma,"""A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma."" [url:http\://en.wikipedia.org/wiki/Angiolipoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8861/0', 'MESH:D018206', 'NCI:C3733', 'SNOMEDCT_US_2022_09_01:404057003', 'UMLS_CUI:C0206632']",['DOID:3315']
8461,3620,central nervous system cancer,"""A nervous system cancer that is located_in the central nervous system."" [url:http\://en.wikipedia.org/wiki/Central_nervous_system]",['NCIthesaurus'],"['EFO:0000326', 'ICD10CM:C72.9', 'MESH:D016543', 'NCI:C4627', 'NCI:C9293', 'SNOMEDCT_US_2022_09_01:126951006', 'SNOMEDCT_US_2022_09_01:93744007', 'UMLS_CUI:C0085136', 'UMLS_CUI:C0348374']",['DOID:3093']
8462,3627,aortic aneurysm,"""An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size."" [url:http\://en.wikipedia.org/wiki/Aortic_aneurysm]",['NCIthesaurus'],"['ICD10CM:I71.1', 'ICD10CM:I71.3', 'ICD10CM:I71.5', 'ICD10CM:I71.8', 'ICD10CM:I71.9', 'ICD9CM:441.1', 'ICD9CM:441.3', 'ICD9CM:441.5', 'ICD9CM:441.6', 'MESH:D001014', 'MESH:D001019', 'NCI:C26697', 'NCI:C27046', 'NCI:C27198', 'NCI:C27299', 'SNOMEDCT_US_2022_09_01:14336007', 'SNOMEDCT_US_2022_09_01:155419006', 'SNOMEDCT_US_2022_09_01:195265003', 'SNOMEDCT_US_2022_09_01:34365005', 'SNOMEDCT_US_2022_09_01:73067008', 'UMLS_CUI:C0003486', 'UMLS_CUI:C0265010', 'UMLS_CUI:C0265012', 'UMLS_CUI:C0741160', 'UMLS_CUI:C1305122']",['DOID:520']
8463,363,uterine cancer,"""A female reproductive organ cancer that is located_in the uterus."" [url:http\://www.cancer.gov/dictionary?CdrID=445094]","['DO_cancer_slim', 'DO_CFDE_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C55', 'ICD9CM:179', 'MESH:D014594', 'NCI:C3435', 'NCI:C3552', 'SNOMEDCT_US_2022_09_01:126908007', 'SNOMEDCT_US_2022_09_01:371973000', 'UMLS_CUI:C0042138', 'UMLS_CUI:C0153567']",['DOID:120']
8464,3633,beta-mannosidosis,"""A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism."" [url:http\://en.wikipedia.org/wiki/Beta-mannosidosis]",['NCIthesaurus'],"['MESH:D044905', 'NCI:C84596', 'OMIM:248510', 'SNOMEDCT_US_2022_09_01:238047006', 'UMLS_CUI:C4048196']",['DOID:3211']
8465,3635,congenital myasthenic syndrome,"""A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic)."" [url:http\://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590]","['DO_rare_slim', 'NCIthesaurus']","['GARD:11902', 'MESH:D020294', 'NCI:C84647', 'OMIM:PS601462', 'ORDO:590', 'SNOMEDCT_US_2022_09_01:230672006', 'UMLS_CUI:C0751882']",['DOID:439']
8468,3640,central nervous system teratoma,"""A teratoma that is located_in the central nervous system."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21150046]",['NCIthesaurus'],"['NCI:C5441', 'UMLS_CUI:C1332895']",['DOID:4439']
8474,3649,pyruvate decarboxylase deficiency,"""A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex."" [url:http\://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency, url:http\://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4620', 'GARD:7513', 'ICD10CM:E74.4', 'MESH:D015325', 'NCI:C103968', 'OMIM:245348', 'OMIM:245349', 'OMIM:312170', 'OMIM:608782', 'OMIM:614111', 'ORDO:79243', 'SNOMEDCT_US_2022_09_01:46683007', 'UMLS_CUI:C0034345']",['DOID:2978']
8475,365,bladder disease,"""A urinary system disease that is located_in the bladder."" [url:http\://www.nlm.nih.gov/medlineplus/bladderdiseases.html]",['NCIthesaurus'],"['ICD10CM:N32.9', 'ICD9CM:596.9', 'MESH:D001745', 'NCI:C2900', 'SNOMEDCT_US_2022_09_01:42643001', 'UMLS_CUI:C0005686']",['DOID:18']
8476,3650,lactic acidosis,"""A metabolic acidosis characterized by buildup of lactate."" [url:http\://en.wikipedia.org/wiki/Lactic_acidosis]",['NCIthesaurus'],"['ICD10CM:E87.20', 'MESH:D000140', 'NCI:C98969', 'SNOMEDCT_US_2022_09_01:91273001', 'UMLS_CUI:C0001125']",['DOID:0050758']
8477,3651,pyruvate carboxylase deficiency disease,"""A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis."" [url:http\://omim.org/entry/266150, url:https\://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency]",['NCIthesaurus'],"['ICD10CM:E74.4', 'MESH:D015324', 'NCI:C85040', 'OMIM:266150', 'SNOMEDCT_US_2022_09_01:87694001', 'UMLS_CUI:C0034341']",['DOID:2978']
8478,3652,Leigh disease,"""A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity."" [url:http\://en.wikipedia.org/wiki/Leigh%27s_disease, url:http\://ghr.nlm.nih.gov/condition/leigh-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/392/viewAbstract]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6877', 'ICD10CM:G31.82', 'MESH:D007888', 'NCI:C84814', 'OMIM:256000', 'ORDO:506', 'SNOMEDCT_US_2022_09_01:29570005', 'UMLS_CUI:C0023264']",['DOID:700']
8479,3659,sialuria,"""A lysosomal storage disease characterized by increased sialic acid in the urine."" [url:http\://en.wikipedia.org/wiki/Sialuria, url:http\://www.ncbi.nlm.nih.gov/books/NBK1164/, url:http\://www.omim.org/entry/269921]",['NCIthesaurus'],"['MESH:D029461', 'NCI:C85067', 'OMIM:269921', 'OMIM:604369', 'SNOMEDCT_US_2022_09_01:238051008', 'UMLS_CUI:C0342853']",['DOID:3211']
8480,3660,wheat allergy,"""A food allergy that develops_from exposure to and particularly consumption of wheat, and has_symptom that are both gastrointestinal and nongastrointestinal in nature, such as diarrhea, mouth and throat irritation, headache, hives, skin rashes, and anaphylaxis."" [url:https\://www.mayoclinic.org/diseases-conditions/wheat-allergy/symptoms-causes/syc-20378897]",['DO_IEDB_slim'],"['MESH:D021182', 'SNOMEDCT_US_2022_09_01:420174000', 'UMLS_CUI:C0949570']",['DOID:3044']
8482,3664,mast cell neoplasm,"""A hematologic cancer that has_material_basis_in mast cells."" [url:http\://en.wikipedia.org/wiki/Mastocytoma, url:http\://www.cancer.gov/dictionary?CdrID=410729]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:D47.09', 'NCI:C9295', 'SNOMEDCT_US_2022_09_01:127581004', 'UMLS_CUI:C0334664']",['DOID:2531']
8486,367,olfactory nerve disease,"""A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell."" [url:https\://en.wikipedia.org/wiki/Olfactory_nerve]",['NCIthesaurus'],"['ICD10CM:G52.0', 'ICD9CM:352.0', 'MESH:D020431', 'NCI:C27210', 'SNOMEDCT_US_2022_09_01:68982002', 'UMLS_CUI:C0751937']",['DOID:3418']
8488,3672,rhabdoid cancer,"""A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system."" [url:https\://rarediseases.info.nih.gov/diseases/7572/rhabdoid-tumor]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7572', 'MESH:D018335', 'NCI:C3808', 'SNOMEDCT_US_2022_09_01:83118000', 'UMLS_CUI:C0206743']",['DOID:3675']
8489,3674,kidney rhabdoid cancer,"""A embryonal cancer that is located in the kidney."" [url:https\://pubmed.ncbi.nlm.nih.gov/32853941/]",['NCIthesaurus'],"['NCI:C8715', 'UMLS_CUI:C0854917']",['DOID:3672']
8492,368,cerebrum cancer,"""A supratentorial cancer that is located_in the cerebrum."" [url:http\://en.wikipedia.org/wiki/Cerebrum]",['NCIthesaurus'],"['ICD9CM:191.8', 'NCI:C4874', 'SNOMEDCT_US_2022_09_01:126953009', 'SNOMEDCT_US_2022_09_01:188300006', 'UMLS_CUI:C0153642', 'UMLS_CUI:C1263885']",['DOID:1659']
8494,3687,MELAS syndrome,"""A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins."" [url:https\://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes#genes]",['NCIthesaurus'],"['ICD10CM:E88.41', 'MESH:D017241', 'NCI:C84885', 'OMIM:540000', 'SNOMEDCT_US_2022_09_01:39925003', 'UMLS_CUI:C0162671']",['DOID:890']
8496,3689,brachial plexus neuritis,"""A brachial plexus neuropathy that affects the chest, shoulder, arm and hand."" [url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/brachial-neuritis]",['NCIthesaurus'],"['ICD10CM:G54.5', 'MESH:D020968', 'NCI:C84600', 'SNOMEDCT_US_2022_09_01:26609002', 'UMLS_CUI:C0221759']",['DOID:3690']
8498,3690,brachial plexus neuropathy,"""A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves."" [url:https\://pubmed.ncbi.nlm.nih.gov/30688233/, url:https\://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061]",['NCIthesaurus'],"['ICD10CM:G54.0', 'MESH:D020516', 'NCI:C27194', 'SNOMEDCT_US_2022_09_01:3548001', 'UMLS_CUI:C0700251']",['DOID:574']
8499,3691,anal colloid adenocarcinoma,"""An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C5606', 'UMLS_CUI:C1332272']",['DOID:3447']
8500,3692,anal canal adenocarcinoma,"""An anal canal cancer that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C7471', 'SNOMEDCT_US_2022_09_01:764845008', 'UMLS_CUI:C1332259']",['DOID:0050688']
8505,3699,uterine ligament mucinous adenocarcinoma,"""A uterine ligament adenocarcinoma that produces mucin."" [url:https\://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf]",['NCIthesaurus'],"['NCI:C40137', 'UMLS_CUI:C5557429']",['DOID:3700']
8506,37,skin disease,"""An integumentary system disease that is located_in skin."" [url:http\://en.wikipedia.org/wiki/Skin_disease]","['DO_RAD_slim', 'NCIthesaurus']","['ICD9CM:702', 'MESH:D012871', 'MESH:D012873', 'NCI:C156032', 'NCI:C3371', 'SNOMEDCT_US_2022_09_01:201095006', 'SNOMEDCT_US_2022_09_01:5613003', 'SNOMEDCT_US_2022_09_01:95320005', 'UMLS_CUI:C0029574', 'UMLS_CUI:C0037274', 'UMLS_CUI:C0037277']",['DOID:16']
8508,3700,uterine ligament adenocarcinoma,"""A uterine ligament cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26699941]",['NCIthesaurus'],"['NCI:C40135', 'UMLS_CUI:C5557428']",['DOID:5727']
8509,3701,cervical mucinous adenocarcinoma,"""A cervical adenocarcinoma that derives_from mucin producing epithelial cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24199926]",['NCIthesaurus'],"['NCI:C36095', 'UMLS_CUI:C1332919']",['DOID:3702']
8510,3702,cervical adenocarcinoma,"""A cervix carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C4029', 'SNOMEDCT_US_2022_09_01:254887002', 'UMLS_CUI:C0279672']",['DOID:2893']
8511,3703,prostate colloid adenocarcinoma,"""A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11145249]",['NCIthesaurus'],"['NCI:C5537', 'UMLS_CUI:C1335513']",['DOID:2526']
8512,3704,fallopian tube mucinous adenocarcinoma,"""A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987967/]",['NCIthesaurus'],"['NCI:C40103', 'UMLS_CUI:C1517119']",['DOID:3706']
8513,3705,fallopian tube mucinous tumor,"""A fallopian tube benign neoplasm that produces mucin."" [url:https\://pubmed.ncbi.nlm.nih.gov/26894303/]",['NCIthesaurus'],"['NCI:C40109', 'UMLS_CUI:C1517120']",['DOID:0060111']
8514,3706,fallopian tube adenocarcinoma,"""A fallopian tube carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C6265', 'UMLS_CUI:C1333590']",['DOID:1963']
8515,3707,endometrial mucinous adenocarcinoma,"""An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22569105]",['NCIthesaurus'],"['NCI:C40144', 'UMLS_CUI:C1519859']",['DOID:2870']
8516,3709,rectum mucinous adenocarcinoma,"""A rectal adenocarcinoma that produces mucin."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110493/]",['NCIthesaurus'],"['NCI:C7973', 'UMLS_CUI:C0279652']",['DOID:1996']
8519,3711,bladder adenocarcinoma,"""A bladder carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C4032', 'SNOMEDCT_US_2022_09_01:255110003', 'UMLS_CUI:C0279682']",['DOID:4007']
8520,3713,ovary adenocarcinoma,"""An ovarian carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C7700', 'UMLS_CUI:C0948216']",['DOID:4001']
8522,3717,gastric adenocarcinoma,"""A stomach carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C4004', 'SNOMEDCT_US_2022_09_01:408647009', 'UMLS_CUI:C0278701']",['DOID:5517']
8528,3733,theileriasis,"""A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks."" [url:http\://en.wikipedia.org/wiki/East_Coast_fever]","['DO_infectious_disease_slim', 'tick-borne_infectious_disease']","['MESH:D013801', 'SNOMEDCT_US_2022_09_01:68771000', 'UMLS_CUI:C0039753']",['DOID:2789']
8529,3737,verrucous carcinoma,"""A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium."" [url:http\://en.wikipedia.org/wiki/Verrucous_carcinoma]",['NCIthesaurus'],"['ICDO:8051/3', 'MESH:D018289', 'NCI:C3781', 'SNOMEDCT_US_2022_09_01:89906000', 'UMLS_CUI:C0206706']",['DOID:1749']
8530,374,nutrition disease,"""An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods."" [url:http\://www.who.int/topics/nutrition_disorders/en/]",['NCIthesaurus'],"['MESH:D009748', 'NCI:C26836', 'SNOMEDCT_US_2022_09_01:191077005', 'UMLS_CUI:C3714509']",['DOID:0060158']
8531,3740,vulva verrucous carcinoma,"""A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429114/]",['NCIthesaurus'],"['NCI:C6383', 'UMLS_CUI:C1336983']",['DOID:2101']
8533,3742,bladder squamous cell carcinoma,"""A carcinoma of bladder that is manifested in squamous cells of the bladder."" [url:http\://www.cancer.gov/cancertopics/types/bladder]",['NCIthesaurus'],"['NCI:C4031', 'SNOMEDCT_US_2022_09_01:255111004', 'UMLS_CUI:C0279681']",['DOID:4007']
8534,3743,cervical verrucous carcinoma,"""A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. It shows no more than minimal nuclear atypia and does not exhibit infiltrative growth."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18214065]",['NCIthesaurus'],"['NCI:C40190', 'UMLS_CUI:C1516435']",['DOID:3744']
8535,3744,cervical squamous cell carcinoma,"""A cervix carcinoma that has_material_basis_in squamous cells of the cervix."" [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma, url:http\://www.cancer.gov/dictionary?CdrID=752829]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C4028', 'SNOMEDCT_US_2022_09_01:254886006', 'UMLS_CUI:C0279671']",['DOID:2893']
8537,3748,esophagus squamous cell carcinoma,"""An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus."" [url:http\://www.cancer.gov/cancertopics/types/esophageal]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:D000077277', 'NCI:C4024', 'SNOMEDCT_US_2022_09_01:276804009', 'UMLS_CUI:C0279626']",['DOID:1107']
8539,3750,urethra squamous cell carcinoma,"""A cancer of urethra that shows squamous cell differentiation."" [url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma]",['NCIthesaurus'],"['NCI:C6165', 'UMLS_CUI:C1336890']",['DOID:734']
8542,3753,Hermansky-Pudlak syndrome,"""A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin."" [url:http\://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome, url:http\://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6643', 'ICD10CM:E70.331', 'MESH:D022861', 'NCI:C37261', 'OMIM:PS203300', 'ORDO:231531', 'ORDO:231537', 'ORDO:280663', 'ORDO:79430', 'SNOMEDCT_US_2022_09_01:60255003', 'UMLS_CUI:C0079504']",['DOID:225']
8543,3755,antithrombin III deficiency,"""A thrombophilia that is characterized by the tendency to form clots in the veins."" [url:http\://en.wikipedia.org/wiki/Antithrombin_III_deficiency, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/99/viewAbstract]",['NCIthesaurus'],"['ICD10CM:D68.59', 'MESH:D020152', 'NCI:C98815', 'OMIM:613118', 'SNOMEDCT_US_2022_09_01:36351005', 'UMLS_CUI:C0272375']",['DOID:2452']
8544,3756,protein C deficiency,"""A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14."" [url:https\://pubmed.ncbi.nlm.nih.gov/10942114/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4521', 'ICD10CM:D68.59', 'MESH:D020151', 'NCI:C99025', 'ORDO:745', 'SNOMEDCT_US_2022_09_01:76407009', 'UMLS_CUI:C0398625']",['DOID:2452']
8545,3762,cytochrome-c oxidase deficiency disease,"""A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation."" [url:https\://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders, url:https\://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/26846578]","['DO_FlyBase_slim', 'NCIthesaurus']","['MESH:D030401', 'NCI:C98910', 'OMIM:220110', 'SNOMEDCT_US_2022_09_01:237991006', 'UMLS_CUI:C0268237']",['DOID:700']
8547,3764,Denys-Drash syndrome,"""A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene)."" [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049926/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=220&lng=EN]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5576', 'MESH:D030321', 'NCI:C84668', 'OMIM:194080', 'SNOMEDCT_US_2022_09_01:236385009', 'UMLS_CUI:C0950121']",['DOID:225']
8549,3766,leukorrhea,"""A vaginal discharge that is characterized by a whitish or yellow color."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27773511]",['NCIthesaurus'],"['ICD10CM:N89.8', 'MESH:D007973', 'NCI:C34775', 'SNOMEDCT_US_2022_09_01:156017008', 'UMLS_CUI:C0023533']",['DOID:3767']
8550,3767,vaginal discharge,"""A vaginal disease that is characterized by the presence of discharge."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23889917]",['NCIthesaurus'],"['MESH:D019522', 'SNOMEDCT_US_2022_09_01:70856007', 'UMLS_CUI:C0227791']",['DOID:121']
8551,3770,pulmonary fibrosis,"""An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation."" [url:https\://www.sciencedirect.com/science/article/pii/S0954611106004331]",['NCIthesaurus'],"['MESH:D011658', 'NCI:C26869', 'SNOMEDCT_US_2022_09_01:155613001', 'UMLS_CUI:C0034069']",['DOID:3082']
8553,3774,chordoid glioma,"""A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates."" [url:https\://pubmed.ncbi.nlm.nih.gov/28315998/, url:https\://www.frontiersin.org/articles/10.3389/fonc.2020.00502/full]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['ICDO:9444/1', 'NCI:C5592', 'ORDO:251674', 'SNOMEDCT_US_2022_09_01:128789002', 'UMLS_CUI:C1322252']",['DOID:3070']
8555,3781,anovulation,"""An ovarian disease that is characterized by the absence of ovulation."" [url:https\://en.wikipedia.org/wiki/Anovulation]",['NCIthesaurus'],"['MESH:D000858', 'NCI:C34388', 'SNOMEDCT_US_2022_09_01:34571000', 'UMLS_CUI:C0003128']",['DOID:1100']
8556,3783,Coffin-Lowry syndrome,"""A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene  on chromosome Xp22."" [url:https\://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome#inheritance]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6123', 'MESH:D038921', 'NCI:C84643', 'OMIM:303600', 'SNOMEDCT_US_2022_09_01:15182000', 'UMLS_CUI:C0265252']",['DOID:225']
8557,379,external ear disease,"""An auditory system disease that is located_in the external ear."" [url:https\://app1.unmc.edu/medicine/heywood/otology/unit3-external-ear-disease-diagnosis.cfm]",['NCIthesaurus'],"['ICD10CM:H61.9', 'ICD9CM:380', 'NCI:C26972', 'SNOMEDCT_US_2022_09_01:49130001', 'UMLS_CUI:C0155388']",['DOID:2742']
8558,3798,pleural empyema,"""A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath."" [url:http\://en.wikipedia.org/wiki/Pleural_empyema, url:http\://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=Pleural%20empyema%20&alt=sh]",['NCIthesaurus'],"['ICD10CM:J86', 'MESH:D016724', 'NCI:C45692', 'SNOMEDCT_US_2022_09_01:196069007', 'UMLS_CUI:C0014013']",['DOID:1532']
8559,3803,Crigler-Najjar syndrome,"""A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT)."" [url:https\://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['MESH:D003414', 'OMIM:218800', 'ORDO:205', 'SNOMEDCT_US_2022_09_01:8933000', 'UMLS_CUI:C0010324']",['DOID:2741']
8562,381,arthropathy,"""A bone disease that is located_in the joint."" [url:http\://en.wikipedia.org/wiki/Arthropathy]",['NCIthesaurus'],"['ICD10CM:M00-M02', 'ICD10CM:M12.9', 'ICD9CM:711', 'ICD9CM:719.90', 'MESH:D007592', 'NCI:C35760', 'NCI:C78402', 'SNOMEDCT_US_2022_09_01:48548006', 'SNOMEDCT_US_2022_09_01:8316001', 'UMLS_CUI:C0022408', 'UMLS_CUI:C0157749']",['DOID:0080001']
8566,3817,cranial nerve palsy,"""A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve."" [url:https\://aapos.org/glossary/cranial-nerve-palsy]",['NCIthesaurus'],"['MESH:D003389', 'NCI:C26941', 'SNOMEDCT_US_2022_09_01:73013002', 'UMLS_CUI:C0151311']",['DOID:5656']
8571,3827,congenital diaphragmatic hernia,"""A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs."" [url:http\://en.wikipedia.org/wiki/Congenital_diaphragmatic_hernia, url:http\://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1481', 'ICD10CM:K44', 'MESH:D006548', 'NCI:C34687', 'OMIM:142340', 'OMIM:222400', 'OMIM:610187', 'ORDO:2140', 'SNOMEDCT_US_2022_09_01:155748004', 'UMLS_CUI:C0019284']",['DOID:10481']
8573,3829,pituitary adenoma,"""A pituitary gland benign neoplasm that derives_from glandular epithelial cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24010395]",['NCIthesaurus'],"['ICDO:8272/0', 'MESH:D010911', 'NCI:C3329', 'OMIM:PS102200', 'SNOMEDCT_US_2022_09_01:154621002', 'UMLS_CUI:C0032000']",['DOID:60009']
8581,3852,Peutz-Jeghers syndrome,"""An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13."" [url:https\://pubmed.ncbi.nlm.nih.gov/10499464/, url:https\://pubmed.ncbi.nlm.nih.gov/10874301/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7378', 'ICD10CM:Q85.89', 'MESH:D010580', 'NCI:C3324', 'NCI:C4733', 'NCI:C7755', 'OMIM:175200', 'ORDO:2869', 'SNOMEDCT_US_2022_09_01:157029009', 'SNOMEDCT_US_2022_09_01:277161008', 'SNOMEDCT_US_2022_09_01:53633000', 'UMLS_CUI:C0031269', 'UMLS_CUI:C0265323', 'UMLS_CUI:C0456487']",['DOID:5295']
8583,3856,male reproductive organ cancer,"""A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum."" [url:http\://en.wikipedia.org/wiki/Template\:Male_genital_neoplasia, url:http\://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm]",['NCIthesaurus'],"['ICD10CM:C63.9', 'ICD9CM:187.9', 'MESH:D005834', 'NCI:C3054', 'NCI:C8561', 'SNOMEDCT_US_2022_09_01:126895004', 'SNOMEDCT_US_2022_09_01:363515000', 'UMLS_CUI:C0017417', 'UMLS_CUI:C0153606']",['DOID:193']
8584,3857,large cell medulloblastoma,"""A medulloblastoma that is characterized by cells that are larger than would be normally expected."" [url:http\://en.wikipedia.org/wiki/Large_cell]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['ICDO:9474/3', 'NCI:C6904', 'ORDO:251855', 'SNOMEDCT_US_2022_09_01:128790006', 'UMLS_CUI:C1266180']",['DOID:0050902']
8588,3865,adult central nervous system embryonal tumor,"""A central nervous system embryonal tumor that occurs in adults."" [url:https\://pubmed.ncbi.nlm.nih.gov/33477185/]",['NCIthesaurus'],"['NCI:C5411', 'UMLS_CUI:C1332196']",['DOID:0060103']
8591,3870,childhood central nervous system embryonal tumor,"""A central nervous system embryonal tumor that occurs in childhood."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315657/]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C5961', 'UMLS_CUI:C1332957']",['DOID:0060103']
8592,3873,desmoplastic/nodular medulloblastoma,"""A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network."" [url:https\://pubmed.ncbi.nlm.nih.gov/32304218/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910646/]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9471/3', 'NCI:C5407', 'SNOMEDCT_US_2022_09_01:733902001', 'UMLS_CUI:C1334970']",['DOID:0050902']
8593,3875,thrombophlebitis,"""A phlebitis that results from a blood clot in the vessel."" [url:http\://en.wikipedia.org/wiki/Thrombophlebitis, url:http\://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/thrombophlebitis.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001108.htm]",['NCIthesaurus'],"['ICD10CM:I80.0', 'ICD9CM:451.0', 'MESH:D013924', 'NCI:C3410', 'SNOMEDCT_US_2022_09_01:40283005', 'SNOMEDCT_US_2022_09_01:64156001', 'UMLS_CUI:C0040046', 'UMLS_CUI:C0265057']",['DOID:864']
8596,3883,Lynch syndrome,"""A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers."" [url:http\://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer, url:http\://ghr.nlm.nih.gov/condition/lynch-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9905', 'MESH:D003123', 'NCI:C120083', 'OMIM:PS120435', 'ORDO:144', 'SNOMEDCT_US_2022_09_01:700064004', 'UMLS_CUI:C0009405', 'UMLS_CUI:C1333990']",['DOID:225']
8599,3892,insulinoma,"""A pancreatic cystadenoma that is characterized by the overproduction of insulin."" [url:https\://en.wikipedia.org/wiki/Insulinoma]","['DO_rare_slim', 'NCIthesaurus']","['GARD:3010', 'ICDO:8151/3', 'MESH:D007340', 'MESH:D007516', 'NCI:C65184', 'NCI:C95598', 'SNOMEDCT_US_2022_09_01:189586007', 'SNOMEDCT_US_2022_09_01:25324008', 'UMLS_CUI:C0021670', 'UMLS_CUI:C0022134']",['DOID:3918']
8602,3896,hidradenoma,"""A sweat gland benign neoplasm that is located_in an apical sweat gland."" [url:https\://en.wikipedia.org/wiki/Hidradenoma]",['NCIthesaurus'],"['ICDO:8402/0', 'MESH:D006607', 'NCI:C7560', 'SNOMEDCT_US_2022_09_01:81393009', 'UMLS_CUI:C0019522']",['DOID:2664']
8604,3904,bronchus carcinoma,"""A bronchus cancer that has_material_basis_in epithelial cells."" [url:http\://en.wikipedia.org/wiki/Carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:D002283', 'NCI:C35875', 'SNOMEDCT_US_2022_09_01:254622008', 'UMLS_CUI:C0007121']",['DOID:1325']
8605,3905,lung carcinoma,"""A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis."" [url:https\://merck.com/mmpe/sec05/ch062/ch062b.html]","['DO_cancer_slim', 'NCIthesaurus']","['EFO:0001071', 'NCI:C4878', 'SNOMEDCT_US_2022_09_01:154485001', 'UMLS_CUI:C0684249']",['DOID:1324']
8607,3907,lung squamous cell carcinoma,"""A non-small cell lung carcinoma that has_material_basis_in the squamous cell."" [url:http\://cancergenome.nih.gov/cancersselected/lungsquamouscell, url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma, url:http\://en.wikipedia.org/wiki/Squamous_cell_carcinoma_of_the_lung, url:http\://www.cancer.gov/dictionary?CdrID=46595]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C3493', 'SNOMEDCT_US_2022_09_01:254634000', 'UMLS_CUI:C0149782']",['DOID:3908']
8608,3908,lung non-small cell carcinoma,"""A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma."" [url:http\://en.wikipedia.org/wiki/Non-small-cell_lung_carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['EFO:0003060', 'KEGG:05223', 'MESH:D002289', 'NCI:C2926', 'SNOMEDCT_US_2022_09_01:254637007', 'UMLS_CUI:C0007131']",['DOID:3905']
8609,3910,lung adenocarcinoma,"""A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://cancergenome.nih.gov/cancersselected/lungadenocarcinoma, url:http\://en.wikipedia.org/wiki/Adenocarcinoma, url:http\://en.wikipedia.org/wiki/Adenocarcinoma_of_the_lung]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['EFO:0000571', 'GARD:5742', 'MESH:D000077192', 'NCI:C27745', 'NCI:C3512', 'SNOMEDCT_US_2022_09_01:254626006', 'UMLS_CUI:C0152013', 'UMLS_CUI:C1335060']",['DOID:3908']
8610,3911,progeria,"""A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in LMNA on chromosome 1q22."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12714972, url:https\://www.ncbi.nlm.nih.gov/pubmed/16838330]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7467', 'ICD10CM:E34.8', 'MEDDRA:10036794', 'MESH:D011371', 'NCI:C34951', 'OMIM:176670', 'ORDO:740', 'SNOMEDCT_US_2022_09_01:190590004', 'UMLS_CUI:C0033300']",['DOID:0081332']
8620,3930,otitis interna,"""An inner ear disease which involves inflammation of the inner ear."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otitis%20interna]",['NCIthesaurus'],['UMLS_CUI:C1168225'],['DOID:2952']
8625,3948,adrenocortical carcinoma,"""An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:http\://cancergenome.nih.gov/cancersselected/AdrenocorticalCarcinoma, url:http\://www.cancer.gov/cancertopics/types/adrenocortical]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:558', 'MESH:D018268', 'NCI:C9325', 'OMIM:202300', 'SNOMEDCT_US_2022_09_01:255035007', 'UMLS_CUI:C0206686']",['DOID:660']
8629,3953,adrenal gland cancer,"""An endocrine gland cancer located_in the adrenal glands which are located above the kidneys."" [url:http\://en.wikipedia.org/wiki/Adrenal_gland]","['DO_CFDE_slim', 'DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['GARD:5751', 'ICD10CM:C74', 'ICD9CM:194.0', 'MESH:D000310', 'NCI:C2859', 'NCI:C9338', 'SNOMEDCT_US_2022_09_01:127021009', 'SNOMEDCT_US_2022_09_01:93665005', 'UMLS_CUI:C0001624', 'UMLS_CUI:C0750887']",['DOID:170']
8631,396,Loeffler endocarditis,"""A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils."" [url:http\://en.wikipedia.org/wiki/L%C3%B6ffler%27s_endocarditis]",['NCIthesaurus'],"['ICD10CM:I42.3', 'NCI:C27044', 'SNOMEDCT_US_2022_09_01:33258008', 'UMLS_CUI:C0264834']",['DOID:397']
8632,3962,thyroid gland follicular carcinoma,"""A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells."" [url:http\://en.wikipedia.org/wiki/Follicular_thyroid_cancer]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:D018263', 'NCI:C8054', 'OMIM:188470', 'SNOMEDCT_US_2022_09_01:255028004', 'UMLS_CUI:C0206682']",['DOID:0080525']
8633,3963,thyroid gland carcinoma,"""A thyroid gland cancer that has_material_basis_in epithelial cells."" [url:http\://en.wikipedia.org/wiki/Carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['EFO:0002892', 'MESH:D013964', 'NCI:C4815', 'UMLS_CUI:C0549473']",['DOID:1781']
8637,3969,thyroid gland papillary carcinoma,"""A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland."" [url:http\://cancergenome.nih.gov/cancersselected/thyroid, url:http\://en.wikipedia.org/wiki/Papillary_thyroid_cancer, url:https\://www.ncbi.nlm.nih.gov/pubmed/21455196]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:12027', 'MESH:D000077273', 'NCI:C4035', 'OMIM:188550', 'SNOMEDCT_US_2022_09_01:255029007', 'UMLS_CUI:C0238463']",['DOID:0080525']
8638,397,restrictive cardiomyopathy,"""An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8995091]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:I42.5', 'MESH:D002313', 'NCI:C62798', 'OMIM:115210', 'OMIM:PS115210', 'ORDO:75249', 'SNOMEDCT_US_2022_09_01:389996009', 'UMLS_CUI:C0007196']",['DOID:0060036']
8639,3973,thyroid gland medullary carcinoma,"""A thyroid gland carcinoma that has_material_basis_in parafollicular cells."" [url:http\://en.wikipedia.org/wiki/Medullary_thyroid_cancer]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:C536914', 'NCI:C3879', 'SNOMEDCT_US_2022_09_01:255032005', 'UMLS_CUI:C0238462']",['DOID:3963']
8641,3981,pantothenate kinase-associated neurodegeneration,"""A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13."" [url:http\://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6564', 'ICD10CM:G23.0', 'MESH:D006211', 'NCI:C8967', 'OMIM:234200', 'ORDO:157850', 'SNOMEDCT_US_2022_09_01:2992000', 'UMLS_CUI:C0018523']",['DOID:0110734']
8642,3982,Meige syndrome,"""A cranio-facial dystonia that is accompanied by blepharospasm."" [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]",['DO_rare_slim'],"['GARD:7008', 'MESH:D008538', 'SNOMEDCT_US_2022_09_01:230325003', 'UMLS_CUI:C0025183']",['DOID:0050845']
8643,3983,oesophagostomiasis,"""A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules."" [url:http\://www.dpd.cdc.gov/dpdx/HTML/Oesophagostomiasis.htm]",['DO_infectious_disease_slim'],"['MESH:D009814', 'SNOMEDCT_US_2022_09_01:22500005', 'UMLS_CUI:C0028887']",['DOID:883']
8644,3985,ostertagiasis,"""A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia."" [url:http\://jvdi.org/cgi/reprint/1/2/195.pdf]",['DO_infectious_disease_slim'],"['MESH:D010029', 'UMLS_CUI:C0029471']",['DOID:1255']
8645,399,tuberculosis,"""A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes."" [url:https\://www.merckmanuals.com/home/infections/tuberculosis-and-related-infections/tuberculosis-tb]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-positive_bacterial_infectious_disease']","['GARD:7827', 'MESH:D014375', 'SNOMEDCT_US_2022_09_01:15202009', 'UMLS_CUI:C0041295']",['DOID:0050338']
8647,3998,Bartholin's gland transitional cell carcinoma,"""A Bartholin's gland carcinoma that derives_from transitional epithelial cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4081365/]",['NCIthesaurus'],"['NCI:C40297', 'UMLS_CUI:C1511053']",['DOID:3999']
8648,3999,Bartholin's gland carcinoma,"""A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland."" [url:http\://en.wikipedia.org/wiki/Bartholin%27s_gland, url:http\://en.wikipedia.org/wiki/Carcinoma]",['NCIthesaurus'],"['NCI:C9055', 'SNOMEDCT_US_2022_09_01:399533005', 'UMLS_CUI:C0349561']",['DOID:1294']
8650,4000,ovary transitional cell carcinoma,"""An ovarian epithelial cancer that derives_from epithelial transitional cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362466/]",['NCIthesaurus'],"['NCI:C5240', 'UMLS_CUI:C1335184']",['DOID:2152']
8651,4001,ovarian carcinoma,"""An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary."" [url:https\://www.cancer.gov/types/ovarian]","['DO_cancer_slim', 'NCIthesaurus']","['EFO:0001075', 'UMLS_CUI:C0677886']",['DOID:2151']
8653,4005,endometrial transitional cell carcinoma,"""An endometrial carcinoma that derives_from transitional epithelial cells."" [url:http\://en.wikipedia.org/wiki/Transitional_cell_carcinoma]",['NCIthesaurus'],"['NCI:C40154', 'UMLS_CUI:C1516864']",['DOID:2871']
8654,4006,bladder urothelial carcinoma,"""A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder."" [url:http\://cancergenome.nih.gov/cancersselected/UrothelialBladderCarcinoma, url:http\://www.cancer.gov/dictionary?cdrid=46629]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C39851', 'SNOMEDCT_US_2022_09_01:393562002', 'UMLS_CUI:C0279680']",['DOID:4007']
8655,4007,bladder carcinoma,"""A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:https\://www.mayoclinic.org/diseases-conditions/bladder-cancer/symptoms-causes/syc-20356104]","['DO_cancer_slim', 'NCIthesaurus']","['EFO:0000292', 'NCI:C4912', 'SNOMEDCT_US_2022_09_01:269607003', 'UMLS_CUI:C0699885']",['DOID:11054']
8656,4008,fallopian tube transitional cell carcinoma,"""A fallopian tube carcinoma that derives_from epithelial transitional cells."" [url:https\://pubmed.ncbi.nlm.nih.gov/26894303/]",['NCIthesaurus'],"['NCI:C40104', 'UMLS_CUI:C1517128']",['DOID:1963']
8657,401,multidrug-resistant tuberculosis,"""A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs."" [url:http\://en.wikipedia.org/wiki/Multidrug-resistant_tuberculosis]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['MESH:D018088', 'NCI:C128415', 'SNOMEDCT_US_2022_09_01:423092005', 'UMLS_CUI:C0206526']",['DOID:399']
8659,4012,papillary transitional carcinoma,"""A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium."" [url:https\://www.healthline.com/health/papillary-urothelial-carcinoma]",['NCIthesaurus'],"['NCI:C4122', 'SNOMEDCT_US_2022_09_01:12400006', 'UMLS_CUI:C0334274']",['DOID:2671']
8660,4013,urethra transitional cell carcinoma,"""An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter."" [url:https\://pubmed.ncbi.nlm.nih.gov/31950597/, url:https\://pubmed.ncbi.nlm.nih.gov/9730148/]",['NCIthesaurus'],"['NCI:C6166', 'UMLS_CUI:C0863015']",['DOID:734']
8661,4014,sarcomatoid transitional cell carcinoma,"""A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium."" [url:http\://www.sciencedirect.com/science/article/pii/S0090429505013439, url:https\://pubmed.ncbi.nlm.nih.gov/16504263/]",['NCIthesaurus'],"['NCI:C4120', 'SNOMEDCT_US_2022_09_01:112676006', 'UMLS_CUI:C0334271']",['DOID:2671']
8662,4015,sarcomatoid carcinoma,"""A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27004]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:D002277', 'NCI:C27004', 'SNOMEDCT_US_2022_09_01:65692009', 'UMLS_CUI:C0205697']",['DOID:305']
8663,402,oral tuberculosis,"""A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located in tongue, located in palate, located in maxilla or located in mandible."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16900894]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['MESH:D014393', 'SNOMEDCT_US_2022_09_01:235067001', 'UMLS_CUI:C0041323']",['DOID:404']
8664,4022,ureterocele,"""A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23969704]",['NCIthesaurus'],"['MESH:D014518', 'NCI:C123159', 'OMIM:191650', 'SNOMEDCT_US_2022_09_01:12818004', 'UMLS_CUI:C0041960']",['DOID:1426']
8666,4024,scirrhous adenocarcinoma,"""An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma."" [url:https\://pubmed.ncbi.nlm.nih.gov/34084475/]",['NCIthesaurus'],"['ICDO:8141/3', 'MESH:D002293', 'NCI:C2928', 'SNOMEDCT_US_2022_09_01:4584002', 'UMLS_CUI:C0007135']",['DOID:299']
8667,4028,angioma serpiginosum,"""A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin."" [url:http\://www.dermnetnz.org/vascular/angioma-serpiginosa.html]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:L81.7', 'NCI:C3926', 'OMIM:106050', 'OMIM:300652', 'ORDO:95429', 'SNOMEDCT_US_2022_09_01:49465005', 'UMLS_CUI:C0263637']",['DOID:471']
8668,4029,gastritis,"""A stomach disease that is an inflammation of the lining of the stomach."" [url:http\://en.wikipedia.org/wiki/Gastritis]",['NCIthesaurus'],"['ICD10CM:K29.7', 'MESH:D005756', 'NCI:C26780', 'SNOMEDCT_US_2022_09_01:155711008', 'UMLS_CUI:C0017152']",['DOID:76']
8669,403,mouth disease,"""A gastrointestinal system disease that is located_in the mouth."" [url:http\://en.wikipedia.org/wiki/Oral_and_maxillofacial_pathology]","['DO_RAD_slim', 'NCIthesaurus']","['MESH:D009059', 'NCI:C27641', 'SNOMEDCT_US_2022_09_01:118938008', 'UMLS_CUI:C0026636']",['DOID:77']
8672,4033,bacterial gastritis,"""A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting."" [url:http\://www.merck.com/mmhe/sec09/ch121/ch121b.html, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/gastritis-gastropathy/definition-facts]","['DO_infectious_disease_slim', 'NCIthesaurus']","['NCI:C27340', 'SNOMEDCT_US_2022_09_01:723096000', 'UMLS_CUI:C0948039']",['DOID:4029']
8673,4034,fungal gastritis,"""A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients."" [url:http\://www.merck.com/mmpe/sec02/ch013/ch013c.html]","['DO_infectious_disease_slim', 'NCIthesaurus']","['NCI:C27342', 'SNOMEDCT_US_2022_09_01:723097009', 'UMLS_CUI:C0948638']",['DOID:4029']
8677,404,gastrointestinal tuberculosis,"""An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom constipation, has_symptom nausea, and has_symptom vomiting."" [url:http\://smj.sma.org.sg/5006/5006pe1.pdf, url:https\://www.ncbi.nlm.nih.gov/pubmed/12864956]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['MESH:D014385', 'SNOMEDCT_US_2022_09_01:154286002', 'UMLS_CUI:C0041312']",['DOID:0050599']
8680,4045,muscle cancer,"""A musculoskeletal system cancer that is located_in muscle."" [url:http\://en.wikipedia.org/wiki/Muscle]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C49', 'MESH:D009217', 'MESH:D019042', 'NCI:C4883', 'SNOMEDCT_US_2022_09_01:20667008', 'SNOMEDCT_US_2022_09_01:93913006', 'UMLS_CUI:C0027095', 'UMLS_CUI:C0684743']",['DOID:0060100']
8681,4047,liver rhabdomyosarcoma,"""A rhabdomyosarcoma and sarcoma of liver that are located_in the liver."" [url:http\://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/HealthProfessional/page6]",['NCIthesaurus'],"['NCI:C5834', 'UMLS_CUI:C1333975']",['DOID:270']
8683,4049,mediastinum rhabdomyosarcoma,"""A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents."" [url:https\://pubmed.ncbi.nlm.nih.gov/28024111/]",['NCIthesaurus'],"['NCI:C6617', 'UMLS_CUI:C1334677']",['DOID:3247']
8684,4050,mediastinum sarcoma,"""A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum."" [url:https\://www.sciencedirect.com/science/article/pii/S1556086415305220]",['NCIthesaurus'],"['NCI:C6606', 'UMLS_CUI:C1334678']",['DOID:5559']
8686,4053,rectum rhabdomyosarcoma,"""A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors."" [url:http\://en.wikipedia.org/wiki/Rhabdomyosarcoma]",['NCIthesaurus'],"['NCI:C5627', 'UMLS_CUI:C1335687']",['DOID:1995']
8687,4054,prostate sarcoma,"""A prostate cancer that is located_in the prostate."" [url:https\://radiopaedia.org/articles/prostate-sarcoma]",['NCIthesaurus'],"['NCI:C7731', 'UMLS_CUI:C0238393']",['DOID:10283']
8689,4057,gallbladder rhabdomyosarcoma,"""A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles."" [url:http\://en.wikipedia.org/wiki/Rhabdomyosarcoma, url:https\://gut.bmj.com/content/35/6/854]",['NCIthesaurus'],"['NCI:C5839', 'UMLS_CUI:C1333756']",['DOID:3247']
8690,4058,gallbladder sarcoma,"""A sarcoma that is located_in the gallbladder."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19194282]",['NCIthesaurus'],"['NCI:C5736', 'UMLS_CUI:C1333757']",['DOID:3121']
8691,4059,ovary rhabdomyosarcoma,"""An ovary sarcoma that arises from skeletal muscle progenitors."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9553806]",['NCIthesaurus'],"['NCI:C5236', 'UMLS_CUI:C1335176']",['DOID:3247']
8692,4060,breast rhabdomyosarcoma,"""A breast sarcoma that arises from skeletal muscle cells."" [url:https\://en.wikipedia.org/wiki/Rhabdomyosarcoma]",['NCIthesaurus'],"['NCI:C5190', 'UMLS_CUI:C1332637']",['DOID:3017']
8693,4061,testis rhabdomyosarcoma,"""A testis sarcoma that arises from mesenchymal cells and is located_in the testis."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21470524]",['NCIthesaurus'],"['NCI:C6378', 'UMLS_CUI:C1336726']",['DOID:4062']
8694,4062,testis sarcoma,"""A sarcoma and malignant neoplasm of testis that is located_in the testis."" [url:https\://jamanetwork.com/journals/jama/fullarticle/462919]",['NCIthesaurus'],"['NCI:C6359', 'UMLS_CUI:C1336727']",['DOID:2998']
8695,4064,bile duct sarcoma,"""A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct."" [url:http\://en.wikipedia.org/wiki/Sarcoma_botryoides]",['NCIthesaurus'],"['NCI:C5029', 'UMLS_CUI:C2205442']",['DOID:4606']
8697,4066,anus rhabdomyosarcoma,"""A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422314/]",['NCIthesaurus'],"['NCI:C5610', 'UMLS_CUI:C1332276']",['DOID:3247']
8698,4067,anus sarcoma,"""A sarcoma and malignant neoplasm of anus that is located_in the anus."" [url:http\://en.wikipedia.org/wiki/Sarcoma]",['NCIthesaurus'],"['NCI:C5611', 'UMLS_CUI:C1332277']",['DOID:14110']
8699,407,hepatic tuberculosis,"""A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425874/]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['MESH:D014386', 'SNOMEDCT_US_2022_09_01:186273003', 'UMLS_CUI:C0041313']",['DOID:404']
8703,4074,pancreatic adenocarcinoma,"""A pancreatic carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C8294', 'SNOMEDCT_US_2022_09_01:700423003', 'UMLS_CUI:C0281361']",['DOID:4905']
8705,4078,tricuspid valve stenosis,"""A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve."" [url:http\://en.wikipedia.org/wiki/Tricuspid_valve_stenosis]",['NCIthesaurus'],"['MESH:D014264', 'NCI:C50783', 'SNOMEDCT_US_2022_09_01:49915006', 'UMLS_CUI:C0040963']",['DOID:0050826']
8706,4079,heart valve disease,"""A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right)."" [url:http\://en.wikipedia.org/wiki/Heart_valve_disease]","['DO_RAD_slim', 'NCIthesaurus']","['MESH:D006349', 'MESH:D016127', 'NCI:C45525', 'SNOMEDCT_US_2022_09_01:368009', 'SNOMEDCT_US_2022_09_01:398995000', 'UMLS_CUI:C0018824', 'UMLS_CUI:C0079485']",['DOID:114']
8707,4080,tricuspid valve insufficiency,"""A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal."" [url:http\://en.wikipedia.org/wiki/Tricuspid_insufficiency]",['NCIthesaurus'],"['MESH:D014262', 'NCI:C50842', 'SNOMEDCT_US_2022_09_01:111287006', 'UMLS_CUI:C0040961']",['DOID:0050826']
8709,4085,trophoblastic neoplasm,"""A germ cell and embryonal cancer that derives_from trophoblastic tissue."" [url:http\://en.wikipedia.org/wiki/Trophoblastic_neoplasm]",['NCIthesaurus'],"['MESH:D014328', 'NCI:C3422', 'SNOMEDCT_US_2022_09_01:115234004', 'UMLS_CUI:C0041182']",['DOID:3095']
8710,4086,testicular germ cell tumor non-seminomatous,"""A testicular germ cell cancer characterized by the absence of a seminomatous component."" [url:https\://pubmed.ncbi.nlm.nih.gov/24819978/]",['NCIthesaurus'],"['ICDO:9065/3', 'NCI:C9313', 'SNOMEDCT_US_2022_09_01:107691000119101', 'UMLS_CUI:C1336724']",['DOID:5557']
8713,4090,agnosia,"""A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss."" [url:http\://en.wikipedia.org/wiki/Agnosia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8', 'ICD10CM:R48.1', 'MESH:D000377', 'NCI:C84542', 'SNOMEDCT_US_2022_09_01:42341009', 'UMLS_CUI:C0001816']",['DOID:2033']
8714,4109,tick infestation,"""A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice."" [url:http\://en.wikipedia.org/wiki/Tick, url:http\://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm]",['DO_infectious_disease_slim'],"['MESH:D013984', 'UMLS_CUI:C0040196']",['DOID:4110']
8715,4110,parasitic ectoparasitic infectious disease,"""A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host."" [url:http\://en.wikipedia.org/wiki/Ectoparasitic_infestation]",['DO_infectious_disease_slim'],"['MESH:D004478', 'UMLS_CUI:C0013578']",['DOID:1398']
8716,4111,cervical adenosarcoma,"""A cervical carcinosarcoma that is located_in the cervix."" [url:https\://pubmed.ncbi.nlm.nih.gov/17292949/]",['NCIthesaurus'],"['NCI:C40229', 'SNOMEDCT_US_2022_09_01:764847000', 'UMLS_CUI:C1516426']",['DOID:4112']
8717,4112,cervical carcinosarcoma,"""A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18357808]",['NCIthesaurus'],"['NCI:C36097', 'NCI:C40226', 'NCI:C40228', 'SNOMEDCT_US_2022_09_01:764951002', 'UMLS_CUI:C1332917', 'UMLS_CUI:C1516420', 'UMLS_CUI:C1518168']",['DOID:4362']
8718,4113,uterine corpus adenosarcoma,"""An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus."" [url:http\://www.wrongdiagnosis.com/a/adenosarcoma_of_the_uterus/intro.htm]",['NCIthesaurus'],"['NCI:C6336', 'UMLS_CUI:C1336917']",['DOID:4114']
8719,4114,uterine body mixed cancer,"""A uterine corpus cancer that has_material_basis_in more than one type of cell."" [url:http\://en.wikipedia.org/wiki/Uterine_cancer]",['NCIthesaurus'],"['NCI:C6311', 'UMLS_CUI:C1334628']",['DOID:9460']
8720,4115,ovarian mesodermal adenosarcoma,"""An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12360039]",['NCIthesaurus'],"['NCI:C7317', 'UMLS_CUI:C1335169']",['DOID:6170']
8721,4117,vaginal adenosarcoma,"""A vaginal carcinosarcoma derives_from the glands that line the uterus."" [url:http\://www.wrongdiagnosis.com/medical/mullerian_adenosarcoma_of_the_uterus.htm]",['NCIthesaurus'],"['NCI:C40277', 'UMLS_CUI:C1519914']",['DOID:136']
8728,4138,bile duct disease,"""A biliary tract disease located_in one or more bile ducts."" [url:https\://medlineplus.gov/bileductdiseases.html, url:https\://www.health.harvard.edu/a_to_z/bile-duct-diseases-a-to-z, url:https\://www.nyp.org/cadc/liver-diseases-and-transplantation/bile-duct-disorders]",['NCIthesaurus'],"['MESH:D001649', 'NCI:C96716', 'SNOMEDCT_US_2022_09_01:118926004', 'UMLS_CUI:C0005395']",['DOID:9741']
8730,4141,intraorbital meningioma,"""A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance."" [url:http\://www.mayfieldclinic.com/pe-meni.htm]",['NCIthesaurus'],"['MESH:D008579', 'NCI:C6778', 'UMLS_CUI:C1334261']",['DOID:4143']
8731,4143,orbital cancer,"""A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK13668/]",['NCIthesaurus'],"['ICD10CM:C69.6', 'ICD9CM:190.1', 'MESH:D009918', 'NCI:C3290', 'NCI:C3562', 'SNOMEDCT_US_2022_09_01:127003006', 'SNOMEDCT_US_2022_09_01:363462005', 'UMLS_CUI:C0029185', 'UMLS_CUI:C0153626']",['DOID:184']
8734,4151,skull base chordoma,"""A chordoma that is located_in the skull base."" [url:https\://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=134&ContentID=85]",['NCIthesaurus'],"['NCI:C5453', 'UMLS_CUI:C1335975']",['DOID:3302']
8735,4152,chondroid chordoma,"""A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma."" [url:http\://www.ajnr.org/ajnr-case-collections-diagnosis/chondroid-chordoma, url:https\://my.clevelandclinic.org/health/diseases/17916-chordoma, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263615/]","['DO_rare_slim', 'NCIthesaurus']","['ICDO:9371/3', 'NCI:C6902', 'SNOMEDCT_US_2022_09_01:128784007', 'UMLS_CUI:C1266173']",['DOID:3302']
8736,4153,spinal chordoma,"""A chordoma that derives_from the spine."" [url:http\://www.hopkinsmedicine.org/neurology_neurosurgery/conditions_main/chordoma.html]",['NCIthesaurus'],['NCI:C5156'],['DOID:3302']
8737,4154,dentinogenesis imperfecta,"""A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22."" [url:https\://pubmed.ncbi.nlm.nih.gov/19021896/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6258', 'ICD10CM:K00.5', 'MESH:D003811', 'NCI:C84667', 'OMIM:125490', 'OMIM:125500', 'ORDO:49042', 'SNOMEDCT_US_2022_09_01:367461002', 'UMLS_CUI:C0011436']",['DOID:1091']
8738,4156,primary syphilis,"""A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=primary+syphilis]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'sexually_transmitted_infectious_disease']","['ICD9CM:091', 'SNOMEDCT_US_2022_09_01:186846005', 'UMLS_CUI:C0153139']",['DOID:4166']
8739,4157,secondary syphilis,"""A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=secondary+syphilis]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'sexually_transmitted_infectious_disease']","['ICD9CM:091.9', 'MESH:C536773', 'NCI:C128413', 'SNOMEDCT_US_2022_09_01:154382002', 'UMLS_CUI:C0149985']",['DOID:4166']
8740,4159,skin cancer,"""An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."" [url:https\://medlineplus.gov/skincancer.html]","['DO_CFDE_slim', 'DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['GARD:10421', 'MESH:D012878', 'NCI:C2920', 'SNOMEDCT_US_2022_09_01:94047004', 'UMLS_CUI:C0007114']",['DOID:0060122']
8743,4164,cerebral neuroblastoma,"""A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells."" [url:https\://en.wikipedia.org/wiki/Neuroblastoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/6886755]",['NCIthesaurus'],"['NCI:C4826', 'SNOMEDCT_US_2022_09_01:281560004', 'UMLS_CUI:C0559458']",['DOID:1319']
8744,4166,syphilis,"""A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years."" [url:http\://en.wikipedia.org/wiki/Syphilis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syphilis]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'sexually_transmitted_infectious_disease']","['ICD10CM:A51.0', 'MESH:D002601', 'SNOMEDCT_US_2022_09_01:736686006', 'UMLS_CUI:C0007939']",['DOID:0050338']
8748,418,systemic scleroderma,"""A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies."" [url:https\://ghr.nlm.nih.gov/condition/systemic-scleroderma]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0000717', 'GARD:9748', 'ICD10CM:M34.0', 'ICD9CM:710.1', 'MESH:D012595', 'NCI:C72070', 'OMIM:181750', 'SNOMEDCT_US_2022_09_01:89155008', 'UMLS_CUI:C0036421']",['DOID:419']
8752,4188,echolalia,"""A speech disorder that involves the automatic repetition of vocalizations made by another person."" [url:http\://en.wikipedia.org/wiki/Echolalia]",['NCIthesaurus'],"['MESH:D004454', 'NCI:C97166', 'SNOMEDCT_US_2022_09_01:64712007', 'UMLS_CUI:C0013528']",['DOID:92']
8754,419,scleroderma,"""A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs."" [url:http\://www.niams.nih.gov/Health_Info/Scleroderma/default.asp]",['NCIthesaurus'],"['MESH:D012594', 'NCI:C26746', 'SNOMEDCT_US_2022_09_01:201440007', 'UMLS_CUI:C0011644']",['DOID:1575']
8758,4196,femoral neuropathy,"""A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve."" [url:https\://medlineplus.gov/ency/article/000687.htm]",['NCIthesaurus'],"['ICD10CM:G57.2', 'MESH:D020428', 'NCI:C27595', 'SNOMEDCT_US_2022_09_01:25690000', 'UMLS_CUI:C0751931']",['DOID:1188']
8759,420,hypertrichosis,"""A hair disease characterized by hair growth that is abnormal in quantity or location."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18328202]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:L68', 'MESH:D006983', 'NCI:C79597', 'ORDO:79365', 'SNOMEDCT_US_2022_09_01:201164001', 'UMLS_CUI:C0020555']",['DOID:421']
8761,4202,brain stem glioma,"""A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells."" [url:https\://en.wikipedia.org/wiki/Brainstem_glioma]",['NCIthesaurus'],"['NCI:C8501', 'SNOMEDCT_US_2022_09_01:444545003', 'UMLS_CUI:C0677865']",['DOID:4203']
8764,4206,childhood brain stem neoplasm,"""A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5969]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C5969', 'UMLS_CUI:C1332951']",['DOID:4203']
8765,4207,childhood infratentorial neoplasm,"""A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5802]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C5802', 'UMLS_CUI:C1332973']",['DOID:4203']
8767,421,hair disease,"""An integumentary system disease that is located_in hair."" [url:http\://en.wikipedia.org/wiki/Hair_disease]",['NCIthesaurus'],"['MESH:D006201', 'NCI:C34656', 'SNOMEDCT_US_2022_09_01:267862002', 'UMLS_CUI:C0018500']",['DOID:16']
8769,4211,posterior fossa meningioma,"""A meningioma that affects the posterior cranial fossa."" [url:https\://pubmed.ncbi.nlm.nih.gov/33814376/]",['NCIthesaurus'],"['MESH:D008579', 'NCI:C6775', 'UMLS_CUI:C1565950']",['DOID:3565']
8770,4217,malignant ovarian Brenner tumor,"""A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40026]",['NCIthesaurus'],"['MESH:D001948', 'NCI:C4270', 'SNOMEDCT_US_2022_09_01:42194009', 'UMLS_CUI:C0334495']",['DOID:2151']
8771,422,congenital structural myopathy,"""A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills."" [url:https\://pubmed.ncbi.nlm.nih.gov/23897157/]","['DO_FlyBase_slim', 'NCIthesaurus']","['MESH:D020914', 'NCI:C84648', 'UMLS_CUI:C0752282']",['DOID:0081337']
8773,4226,endometrial stromal sarcoma,"""An endometrial stromal tumor that has_material_basis_in connective tissue."" [url:https\://en.wikipedia.org/wiki/Endometrial_stromal_sarcoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6339', 'ICDO:8930/3', 'MESH:D018203', 'NCI:C8973', 'SNOMEDCT_US_2022_09_01:1178986006', 'UMLS_CUI:C0206630']",['DOID:5166']
8774,4227,uterine corpus endometrial stromal sarcoma,"""A uterine corpus sarcoma that has_material_basis_in the connective tissue of the uterine lining."" [url:https\://www.cancer.org/cancer/uterine-sarcoma/about/what-is-uterine-sarcoma.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/21652246]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C40219', 'UMLS_CUI:C1519849']",['DOID:5165']
8775,423,myopathy,"""A muscular disease in which the muscle fibers do not function resulting in muscular weakness."" [url:http\://en.wikipedia.org/wiki/Myopathy]","['DO_FlyBase_slim', 'NCIthesaurus']","['ICD10CM:G72.9', 'ICD9CM:359.9', 'MESH:D009135', 'NCI:C101216', 'SNOMEDCT_US_2022_09_01:155094005', 'UMLS_CUI:C0026848']",['DOID:66']
8778,4232,extraosseous Ewing sarcoma,"""A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27293]","['DO_rare_slim', 'NCIthesaurus']","['NCI:C27293', 'ORDO:370334', 'UMLS_CUI:C1333514']",['DOID:3369']
8779,4233,clear cell sarcoma,"""A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated."" [url:http\://en.wikipedia.org/wiki/Clear-cell_sarcoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9044/3', 'MESH:D018227', 'NCI:C27370', 'NCI:C3745', 'SNOMEDCT_US_2022_09_01:12622007', 'UMLS_CUI:C0206651', 'UMLS_CUI:C1332198']",['DOID:1115']
8780,4235,spindle cell sarcoma,"""A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy."" [url:http\://medical-dictionary.thefreedictionary.com/spindle+cell+sarcoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8801/3', 'MESH:D012509', 'NCI:C27005', 'SNOMEDCT_US_2022_09_01:9801004', 'UMLS_CUI:C0205945']",['DOID:1115']
8781,4236,carcinosarcoma,"""A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components."" [url:http\://en.wikipedia.org/wiki/Mixed_M%C3%BCllerian_tumor, url:http\://www.cancer.gov/Common/PopUps/popDefinition.aspx?id=44003&version=Patient&language=English, url:http\://www.cancer.gov/dictionary/?CdrID=44003]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8980/3', 'MESH:D002296', 'MESH:D018199', 'MESH:D018200', 'NCI:C34448', 'NCI:C3730', 'NCI:C8975', 'SNOMEDCT_US_2022_09_01:112684005', 'SNOMEDCT_US_2022_09_01:63264007', 'SNOMEDCT_US_2022_09_01:84427001', 'UMLS_CUI:C0007140', 'UMLS_CUI:C0206627', 'UMLS_CUI:C1334603']",['DOID:154']
8782,4239,alveolar soft part sarcoma,"""A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults."" [url:http\://en.wikipedia.org/wiki/Alveolar_soft_part_sarcoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:5654', 'ICDO:9581/3', 'MESH:D018234', 'NCI:C3750', 'NCI:C7943', 'NCI:C8092', 'OMIM:606243', 'ORDO:163699', 'SNOMEDCT_US_2022_09_01:88195001', 'UMLS_CUI:C0206657', 'UMLS_CUI:C0279544', 'UMLS_CUI:C0279985']",['DOID:4043']
8784,4242,kidney sarcoma,"""A kidney cancer that is located in the kidney's connective tissue."" [url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_kidney_cancer_22.asp]",['NCIthesaurus'],"['NCI:C4525', 'SNOMEDCT_US_2022_09_01:254918001', 'UMLS_CUI:C0346251']",['DOID:263']
8787,4249,Gerstmann-Straussler-Scheinker syndrome,"""A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain."" [url:http\://en.wikipedia.org/wiki/Gerstmann-Str%C3%A4ussler-Scheinker_syndrome, url:http\://en.wikipedia.org/wiki/Gerstmann-straussler-scheinker_disease, url:http\://www.cdc.gov/ncidod/dvrd/prions/]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7690', 'ICD10CM:A81.82', 'ICD9CM:046.71', 'MESH:D016098', 'NCI:C84727', 'OMIM:137440', 'SNOMEDCT_US_2022_09_01:67155006', 'UMLS_CUI:C0017495']",['DOID:649']
8789,4251,conjunctival disease,"""An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27605]",['NCIthesaurus'],"['ICD10CM:H11.9', 'ICD9CM:372.9', 'MESH:D003229', 'NCI:C27605', 'SNOMEDCT_US_2022_09_01:194583004', 'UMLS_CUI:C0009759']",['DOID:5614']
8790,4252,Alexander disease,"""A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes."" [url:http\://en.wikipedia.org/wiki/Alexander_disease, url:http\://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm, url:http\://www.omim.org/entry/203450, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:5774', 'MESH:D038261', 'NCI:C84545', 'OMIM:203450', 'SNOMEDCT_US_2022_09_01:81854007', 'UMLS_CUI:C0270726']",['DOID:10579']
8791,4253,melorheostosis,"""An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex."" [url:http\://en.wikipedia.org/wiki/Melorheostosis, url:http\://www.melorheostosis.com/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9474', 'MESH:D008557', 'NCI:C84887', 'OMIM:155950', 'SNOMEDCT_US_2022_09_01:240173003', 'UMLS_CUI:C0025239']",['DOID:4254']
8792,4254,osteosclerosis,"""A bone remodeling disease that results_in abnormal elevated bone density or mass."" [url:http\://en.wikipedia.org/wiki/Osteosclerosis]",['NCIthesaurus'],"['ICD10CM:Q78.2', 'MESH:D010026', 'NCI:C41236', 'SNOMEDCT_US_2022_09_01:49347007', 'UMLS_CUI:C0029464']",['DOID:0080005']
8793,4257,Caffey disease,"""A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability."" [url:http\://en.wikipedia.org/wiki/Infantile_cortical_hyperostosis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1051', 'ICD10CM:M89.8', 'MESH:D006958', 'NCI:C84645', 'OMIM:114000', 'SNOMEDCT_US_2022_09_01:24752008', 'UMLS_CUI:C0020497']",['DOID:3342']
8794,4258,Weissenbacher-Zweymuller syndrome,"""An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities."" [url:http\://en.wikipedia.org/wiki/Weissenbacher-Zweym%C3%BCller_syndrome, url:http\://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=4351, url:http\://www.healthline.com/galecontent/weissenbacher-zweymuller-syndrome-1]",['NCIthesaurus'],"['ICD10CM:Q87.0', 'MESH:D010855', 'NCI:C85010', 'OMIM:261800', 'SNOMEDCT_US_2022_09_01:156908005', 'UMLS_CUI:C0031900']",['DOID:2256']
8796,4265,angiomyoma,"""A leiomyoma that is located_in the blood vessels."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4202094/]",['NCIthesaurus'],"['MESH:D018229', 'NCI:C3747', 'SNOMEDCT_US_2022_09_01:86959002', 'UMLS_CUI:C0206653']",['DOID:178']
8799,4270,encephalitozoonosis,"""A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal  infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem."" [url:https\://pubmed.ncbi.nlm.nih.gov/35202528/]","['DO_infectious_disease_slim', 'zoonotic_infectious_disease']","['MESH:D016890', 'SNOMEDCT_US_2022_09_01:12825006', 'UMLS_CUI:C0085412']",['DOID:4271']
8800,4271,microsporidiosis,"""An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members."" [url:http\://www.dpd.cdc.gov/dpdx/HTML/Microsporidiosis.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:3655', 'ICD10CM:B60.8', 'MESH:D016881', 'NCI:C84891', 'SNOMEDCT_US_2022_09_01:61842000', 'UMLS_CUI:C0085407']",['DOID:2473']
8801,4277,penis basal cell carcinoma,"""A basal cell carcinoma that is located_in the penis."" [url:https\://www.cancer.org/cancer/penile-cancer/about/what-is-penile-cancer.html]",['NCIthesaurus'],"['NCI:C39961', 'UMLS_CUI:C1518949']",['DOID:3449']
8804,4280,nodular basal cell carcinoma,"""A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573444/]",['NCIthesaurus'],"['NCI:C62282', 'SNOMEDCT_US_2022_09_01:716274007', 'UMLS_CUI:C1304300']",['DOID:2513']
8807,4283,anal margin basal cell carcinoma,"""A basal cell carcinoma that is located_in the anal margin."" [url:https\://www.cancer.org/cancer/anal-cancer/about/what-is-anal-cancer.html]",['NCIthesaurus'],"['ICD10CM:C44.510', 'NCI:C7473', 'UMLS_CUI:C1332269']",['DOID:2513']
8808,4284,anal margin carcinoma,"""An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus)."" [url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp]",['NCIthesaurus'],"['NCI:C7472', 'SNOMEDCT_US_2022_09_01:255084004', 'UMLS_CUI:C0349534']",['DOID:4908']
8811,4288,external ear carcinoma,"""An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:http\://en.wikipedia.org/wiki/Carcinoma]",['NCIthesaurus'],"['NCI:C6081', 'UMLS_CUI:C1333492']",['DOID:5665']
8813,429,gynatresia,"""A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina."" [url:https\://fertilitypedia.org/edu/diagnoses/gynatresia, url:https\://www.ncbi.nlm.nih.gov/pubmed/22717415]",['NCIthesaurus'],"['MESH:D006175', 'NCI:C84743', 'UMLS_CUI:C0018414']",['DOID:229']
8820,4297,scimitar syndrome,"""A congenital heart disease that is characterized by partial or entire anomalous curved venous  drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung."" [url:https\://en.wikipedia.org/wiki/Scimitar_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/31536209]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:Q26.8', 'MESH:D012587', 'NCI:C85056', 'OMIM:106700', 'ORDO:185', 'SNOMEDCT_US_2022_09_01:39905002', 'UMLS_CUI:C0036400']",['DOID:1682']
8823,4301,vulva basal cell carcinoma,"""A vulva carcinoma that has_material_basis_in basal cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22935972]",['NCIthesaurus'],"['NCI:C6381', 'SNOMEDCT_US_2022_09_01:717731002', 'UMLS_CUI:C1336977']",['DOID:1294']
8827,4305,bone giant cell tumor,"""A benign giant cell tumor that results_in the presence of multinucleated giant cells."" [url:http\://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:D018212', 'NCI:C121932', 'SNOMEDCT_US_2022_09_01:697970009', 'UMLS_CUI:C0206638']",['DOID:200']
8829,4307,polyradiculopathy,"""A radiculopathy that is present in more than one nerve."" [url:https\://en.wikipedia.org/wiki/Radiculopathy]",['NCIthesaurus'],"['MESH:D011128', 'NCI:C34934', 'SNOMEDCT_US_2022_09_01:75572007', 'UMLS_CUI:C0032586']",['DOID:4306']
8833,4313,epidermolysis bullosa acquisita,"""An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen."" [url:https\://www.nejm.org/doi/full/10.1056/NEJMicm1204895]",['NCIthesaurus'],"['ICD10CM:L12.3', 'MESH:D016107', 'NCI:C84690', 'SNOMEDCT_US_2022_09_01:2772003', 'UMLS_CUI:C0079293']",['DOID:2730']
8839,4325,Ebola hemorrhagic fever,"""A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding."" [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/ebola/qa.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:2035', 'ICD10CM:A98.4', 'MESH:D019142', 'NCI:C36171', 'SNOMEDCT_US_2022_09_01:123323003', 'UMLS_CUI:C0282687']",['DOID:934']
8840,4327,Marburg hemorrhagic fever,"""A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Marburgvirus, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding."" [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/marburg/qa.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9444', 'ICD10CM:A98.3', 'MESH:D008379', 'NCI:C84883', 'SNOMEDCT_US_2022_09_01:123322008', 'UMLS_CUI:C0024788']",['DOID:934']
8841,4329,Erdheim-Chester disease,"""A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs."" [url:https\://medlineplus.gov/genetics/condition/erdheim-chester-disease/, url:https\://rarediseases.org/rare-diseases/erdheim-chester-disease/]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6369', 'ICDO:9749/3', 'MESH:D031249', 'NCI:C53972', 'SNOMEDCT_US_2022_09_01:703711007', 'UMLS_CUI:C0878675']",['DOID:4330']
8842,4330,non-Langerhans-cell histiocytosis,"""A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells."" [url:https\://pubmed.ncbi.nlm.nih.gov/15547923/]",['DO_rare_slim'],"['GARD:8231', 'MESH:D015616', 'SNOMEDCT_US_2022_09_01:127069007', 'UMLS_CUI:C0019624']",['DOID:3405']
8843,4331,burning mouth syndrome,"""A mouth disease that is characterized by long-lasting burning sensations of the mouth."" [url:https\://pubmed.ncbi.nlm.nih.gov/30189984/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5974', 'MESH:D002054', 'NCI:C62545', 'SNOMEDCT_US_2022_09_01:111349000', 'UMLS_CUI:C0006430']",['DOID:403']
8846,4336,tinea favosa,"""A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885931/]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B35', 'MESH:D014007', 'NCI:C35072', 'SNOMEDCT_US_2022_09_01:85375000', 'UMLS_CUI:C0040254']",['DOID:4337']
8847,4337,tinea capitis,"""A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern."" [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000878.htm, url:https\://drfungus.org/knowledge-base/tinea-capitis/]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD9CM:110.0', 'NCI:C34536', 'SNOMEDCT_US_2022_09_01:186985002', 'UMLS_CUI:C0011640']",['DOID:8913']
8851,4353,ciliary body disease,"""An iris disease that is located_in the ciliary body."" [url:https\://pubmed.ncbi.nlm.nih.gov/35695216/]",['NCIthesaurus'],"['NCI:C35775', 'SNOMEDCT_US_2022_09_01:68575007', 'UMLS_CUI:C0271100']",['DOID:240']
8855,4362,cervical cancer,"""A female reproductive organ cancer that is located_in the cervix."" [url:http\://cancergenome.nih.gov/cancersselected/cervicalcancer, url:http\://en.wikipedia.org/wiki/Cervical_cancer, url:http\://www.cancer.gov/dictionary?CdrID=444973]","['DO_cancer_slim', 'DO_CFDE_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C53', 'ICD9CM:180', 'MESH:D002583', 'NCI:C2940', 'NCI:C9311', 'OMIM:603956', 'SNOMEDCT_US_2022_09_01:123841004', 'SNOMEDCT_US_2022_09_01:254885005', 'UMLS_CUI:C0007847', 'UMLS_CUI:C0007873']",['DOID:120']
8856,4364,malignant breast melanoma,"""A breast cancer that arises_from melanocytes."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15845569]",['NCIthesaurus'],"['NCI:C8410', 'SNOMEDCT_US_2022_09_01:188050009', 'UMLS_CUI:C0346787']",['DOID:1612']
8857,4367,apparent mineralocorticoid excess syndrome,"""A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16."" [url:https\://www.omim.org/entry/218030]","['DO_rare_slim', 'NCIthesaurus']","['GARD:433', 'MESH:D043204', 'NCI:C123231', 'OMIM:218030', 'ORDO:320', 'SNOMEDCT_US_2022_09_01:237770005', 'UMLS_CUI:C0342488']",['DOID:1701']
8858,437,myasthenia gravis,"""An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath."" [url:https\://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Myasthenia-Gravis-Fact-Sheet]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7122', 'ICD10CM:G70.0', 'ICD10CM:G70.00', 'ICD9CM:358.0', 'ICD9CM:358.00', 'MESH:D009157', 'NCI:C60989', 'OMIM:254200', 'SNOMEDCT_US_2022_09_01:155092009', 'UMLS_CUI:C0026896', 'UMLS_CUI:C1260409']",['DOID:438']
8860,4371,Schnitzler syndrome,"""A hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy."" [url:https\://rarediseases.org/rare-diseases/schnitzler-syndrome/]",['DO_rare_slim'],"['GARD:12390', 'MESH:D019873', 'SNOMEDCT_US_2022_09_01:402415001', 'UMLS_CUI:C0524988']",['DOID:2916']
8863,4376,milk allergy,"""A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual."" [url:http\://en.wikipedia.org/wiki/Milk_hypersensitivity]",['DO_IEDB_slim'],"['MESH:D016269', 'UMLS_CUI:C0079840']",['DOID:3044']
8864,4377,egg allergy,"""A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms."" [url:http\://en.wikipedia.org/wiki/Allergy#Foods]",['DO_IEDB_slim'],"['MESH:D021181', 'NCI:C172313', 'SNOMEDCT_US_2022_09_01:91930004', 'UMLS_CUI:C0559469']",['DOID:3044']
8865,4378,peanut allergy,"""A legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms."" [url:http\://en.wikipedia.org/wiki/Allergy#Foods]",['DO_IEDB_slim'],"['MESH:D021183', 'SNOMEDCT_US_2022_09_01:91935009', 'UMLS_CUI:C0559470']",['DOID:0060904']
8866,4379,nut allergy,"""A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis."" [url:https\://en.wikipedia.org/wiki/Tree_nut_allergy]",['DO_IEDB_slim'],"['MESH:D021184', 'NCI:C175521', 'SNOMEDCT_US_2022_09_01:395654004', 'UMLS_CUI:C0577620']",['DOID:3044']
8867,438,autoimmune disease of the nervous system,"""An autoimmune disease affecting the nervous system."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1003353/, url:https\://www.ncbi.nlm.nih.gov/pubmed/21619947]",['NCIthesaurus'],"['MESH:D020274', 'NCI:C99383', 'UMLS_CUI:C0751871']",['DOID:417']
8868,4384,orbit alveolar rhabdomyosarcoma,"""An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form."" [url:https\://pubmed.ncbi.nlm.nih.gov/31146616/]",['NCIthesaurus'],"['NCI:C6247', 'UMLS_CUI:C1335126']",['DOID:3259']
8869,4385,papillary squamous carcinoma,"""A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation."" [url:http\://www.sciencedirect.com/science/article/pii/S0090825803003299]",['NCIthesaurus'],"['NCI:C4102', 'SNOMEDCT_US_2022_09_01:39056008', 'UMLS_CUI:C0334244']",['DOID:1749']
8882,4407,phototoxic dermatitis,"""An irritant dermatitis that is caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight."" [url:https\://dermnetnz.org/cme/dermatitis/photosensitivity-dermatitis]",['NCIthesaurus'],"['MESH:D017484', 'NCI:C4816', 'SNOMEDCT_US_2022_09_01:53597009', 'UMLS_CUI:C0162830']",['DOID:2772']
8884,4411,hepatitis E,"""A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice."" [url:http\://www.cdc.gov/hepatitis/HEV/HEVfaq.htm#section1]","['DO_infectious_disease_slim', 'DO_rare_slim', 'zoonotic_infectious_disease']","['GARD:9541', 'MESH:D016751', 'SNOMEDCT_US_2022_09_01:7111000119109', 'UMLS_CUI:C0085293']",['DOID:934']
8885,4413,cervix melanoma,"""A cervical cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25046205]",['NCIthesaurus'],"['NCI:C40239', 'UMLS_CUI:C0877611']",['DOID:4362']
8890,4423,sea-blue histiocytosis,"""A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids."" [url:https\://en.wikipedia.org/wiki/Sea-blue_histiocytosis, url:https\://rarediseases.info.nih.gov/diseases/8241/sea-blue-histiocytosis]",['NCIthesaurus'],"['MESH:D012618', 'NCI:C85062', 'OMIM:269600', 'SNOMEDCT_US_2022_09_01:37821003', 'UMLS_CUI:C0036489']",['DOID:1927']
8891,4424,juvenile xanthogranuloma,"""A non-Langerhans-cell histiocytosis is characterized as a benign skin lump or bump caused by a collection of cells called histiocytes. These may be red, orange or tan at first, but over time may become more yellow in color. These bumps usually appear on the head, neck and trunk."" [url:https\://www.nationwidechildrens.org/conditions/juvenile-xanthogranuloma, url:https\://www.ncbi.nlm.nih.gov/books/NBK526103/]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9749/1', 'MESH:D014972', 'NCI:C3451', 'SNOMEDCT_US_2022_09_01:71709009', 'UMLS_CUI:C0043324']",['DOID:4330']
8892,4428,dyslexia,"""A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability."" [url:http\://en.wikipedia.org/wiki/Dyslexia]",['NCIthesaurus'],"['ICD10CM:F81.0', 'MESH:D004410', 'NCI:C96410', 'OMIM:300509', 'OMIM:600202', 'OMIM:604254', 'OMIM:606616', 'OMIM:606896', 'OMIM:608995', 'SNOMEDCT_US_2022_09_01:154954003', 'UMLS_CUI:C0476254']",['DOID:13365']
8901,4439,central nervous system germ cell tumor,"""A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25233069]",['NCIthesaurus'],"['NCI:C5461', 'UMLS_CUI:C1332880']",['DOID:3620']
8902,4440,seminoma,"""A germinoma that has_material_basis_in cells that make sperm and eggs."" [url:http\://www.cancer.gov/dictionary?CdrID=46577]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9061/3', 'MESH:D018239', 'NCI:C9309', 'SNOMEDCT_US_2022_09_01:443675005', 'UMLS_CUI:C0036631']",['DOID:2994']
8903,4441,dysgerminoma,"""A germ cell cancer that derives_from cells that give rise to egg cells."" [url:http\://en.wikipedia.org/wiki/Dysgerminoma, url:http\://www.cancer.gov/dictionary?CdrID=672835]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9060/3', 'MESH:D004407', 'SNOMEDCT_US_2022_09_01:60718004', 'UMLS_CUI:C0013377']",['DOID:2394']
8904,4442,cervical alveolar soft part sarcoma,"""An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2479947]",['NCIthesaurus'],"['NCI:C40225', 'UMLS_CUI:C1516408']",['DOID:4362']
8906,4448,macular degeneration,"""A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss."" [url:http\://ghr.nlm.nih.gov/condition/age-related-macular-degeneration, url:http\://rarediseases.info.nih.gov/gard/10260/macular-degeneration/resources/1]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['MESH:D008268', 'NCI:C123330', 'ORDO:279', 'SNOMEDCT_US_2022_09_01:302891003', 'UMLS_CUI:C0024437']",['DOID:8466']
8909,4450,renal cell carcinoma,"""A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney."" [url:http\://en.wikipedia.org/wiki/Renal_cell_carcinoma, url:http\://www.cancer.gov/dictionary?CdrID=661352]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['EFO:0000681', 'GARD:13215', 'ICDO:8312/3', 'MESH:D002292', 'NCI:C9385', 'OMIM:300854', 'ORDO:217071', 'SNOMEDCT_US_2022_09_01:254915003', 'UMLS_CUI:C0007134']",['DOID:4451']
8910,4451,renal carcinoma,"""A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products)."" [url:http\://en.wikipedia.org/wiki/Renal_cell_carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C9384', 'SNOMEDCT_US_2022_09_01:254915003', 'UMLS_CUI:C1378703']",['DOID:263']
8913,446,primary hyperaldosteronism,"""An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands."" [url:https\://en.wikipedia.org/wiki/Primary_aldosteronism, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34510]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:E24', 'ICD10CM:E26', 'ICD9CM:255.0', 'ICD9CM:255.1', 'MESH:D003480', 'MESH:D006929', 'NCI:C113213', 'NCI:C2969', 'OMIM:605635', 'OMIM:613677', 'ORDO:235936', 'SNOMEDCT_US_2022_09_01:154705004', 'SNOMEDCT_US_2022_09_01:88213004', 'UMLS_CUI:C0010481', 'UMLS_CUI:C0020428']",['DOID:3947']
8915,4464,collecting duct carcinoma,"""A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material."" [url:https\://en.wikipedia.org/wiki/Collecting_duct_carcinoma, url:https\://rarediseases.info.nih.gov/diseases/9573/collecting-duct-carcinoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/26684811]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9573', 'ICDO:8319/3', 'MESH:D002292', 'NCI:C6194', 'SNOMEDCT_US_2022_09_01:733470002', 'UMLS_CUI:C1266044']",['DOID:4450']
8916,4465,papillary renal cell carcinoma,"""A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors."" [url:http\://cancergenome.nih.gov/cancersselected/kidneypapillary, url:http\://www.omim.org/entry/605074]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9572', 'MESH:C538614', 'MESH:D002292', 'NCI:C27890', 'NCI:C6975', 'OMIM:605074', 'SNOMEDCT_US_2022_09_01:4797003', 'UMLS_CUI:C1306837', 'UMLS_CUI:C1336078']",['DOID:4450']
8917,4467,clear cell renal cell carcinoma,"""A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope."" [url:http\://www.cancer.gov/dictionary?CdrID=45063, url:https\://cancergenome.nih.gov/cancersselected/kidneyclearcell]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9574', 'MESH:D002292', 'NCI:C4033', 'SNOMEDCT_US_2022_09_01:254915003', 'UMLS_CUI:C0279702']",['DOID:4450']
8918,4468,clear cell adenocarcinoma,"""An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm."" [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/clear-cell-adenocarcinoma]",['NCIthesaurus'],"['ICDO:8310/3', 'MESH:D008649', 'MESH:D018262', 'NCI:C36815', 'NCI:C4072', 'NCI:C4156', 'SNOMEDCT_US_2022_09_01:2221008', 'SNOMEDCT_US_2022_09_01:30546008', 'SNOMEDCT_US_2022_09_01:80727009', 'UMLS_CUI:C0025490', 'UMLS_CUI:C0206681', 'UMLS_CUI:C0334322']",['DOID:299']
8920,4471,chromophobe renal cell carcinoma,"""A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells."" [url:http\://www.cancer.org/acs/groups/cid/documents/webcontent/003107-pdf.pdf, url:https\://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6064', 'MESH:D002292', 'NCI:C4146', 'SNOMEDCT_US_2022_09_01:128667008', 'UMLS_CUI:C1266042']",['DOID:4450']
8924,4480,achondroplasia,"""An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and  that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone."" [url:http\://en.wikipedia.org/wiki/Achondroplasia, url:http\://ghr.nlm.nih.gov/condition/achondroplasia, url:http\://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION%3Dsymptoms, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001577.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8173', 'ICD10CM:Q77.4', 'MESH:D000130', 'NCI:C34345', 'OMIM:100800', 'SNOMEDCT_US_2022_09_01:268273004', 'UMLS_CUI:C0001080']",['DOID:2256']
8925,4481,allergic rhinitis,"""A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites."" [url:http\://en.wikipedia.org/wiki/Allergic_rhinitis, url:http\://en.wikipedia.org/wiki/Rhinitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=allergic%20rhinitis]",['NCIthesaurus'],"['EFO:0003956', 'NCI:C34987', 'OMIM:607154', 'SNOMEDCT_US_2022_09_01:38103000', 'UMLS_CUI:C0002103']",['DOID:4483']
8926,4483,rhinitis,"""A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip."" [url:http\://en.wikipedia.org/wiki/Rhinitis]",['NCIthesaurus'],"['MESH:D012220', 'NCI:C34986', 'SNOMEDCT_US_2022_09_01:70076002', 'UMLS_CUI:C0035455']",['DOID:2163']
8932,4492,avian influenza,"""An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress."" [url:http\://www.cdc.gov/flu/avian/gen-info/avian-flu-humans.htm, url:http\://www.who.int/mediacentre/factsheets/avian_influenza/en/index.html, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=avian%20influenza]","['DO_infectious_disease_slim', 'zoonotic_infectious_disease']","['ICD10CM:J09.X', 'MESH:D005585', 'SNOMEDCT_US_2022_09_01:55604004', 'UMLS_CUI:C0016627']",['DOID:8469']
8933,450,myotonic disease,"""A muscular dystrophy that is characterized by progressive muscle wasting and weakness."" [url:http\://en.wikipedia.org/wiki/Myotonic_dystrophy, url:http\://ghr.nlm.nih.gov/condition/myotonic-dystrophy, url:http\://www.genome.gov/25521207]","['DO_FlyBase_slim', 'NCIthesaurus']","['ICD10CM:G71.1', 'ICD9CM:359.2', 'MESH:D020967', 'NCI:C84913', 'SNOMEDCT_US_2022_09_01:155096007', 'UMLS_CUI:C0553604']",['DOID:9884']
8936,4504,central nervous system angiosarcoma,"""A central nervous system sarcoma that is located_in the inner lining of blood vessels."" [url:http\://thejns.org/doi/abs/10.3171/jns.1991.75.1.0073]",['NCIthesaurus'],"['NCI:C5450', 'UMLS_CUI:C1332875']",['DOID:2133']
8937,4505,childhood angiosarcoma,"""An angiosarcoma that affects children."" [url:http\://findarticles.com/p/articles/mi_qa3725/is_201003/ai_n53080216/]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C9174', 'UMLS_CUI:C0279988']",['DOID:0001816']
8938,4510,aorta angiosarcoma,"""An angiosarcoma that is located_in the aorta."" [url:https\://academic.oup.com/icvts/article/6/6/832/649705, url:https\://pubmed.ncbi.nlm.nih.gov/34238080/]",['NCIthesaurus'],"['NCI:C5376', 'UMLS_CUI:C1332312']",['DOID:0001816']
8939,4511,breast angiosarcoma,"""An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area."" [url:http\://breastcancer.about.com/od/types/p/angiosarcoma.htm]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:C536368', 'NCI:C5184', 'UMLS_CUI:C1332614']",['DOID:3017']
8941,4513,gallbladder angiosarcoma,"""An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15861270]",['NCIthesaurus'],"['NCI:C5840', 'UMLS_CUI:C1333742']",['DOID:0001816']
8942,4514,thyroid angiosarcoma,"""A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter."" [url:http\://www.pathologyoutlines.com/thyroid.html]",['NCIthesaurus'],"['NCI:C6043', 'UMLS_CUI:C1336748']",['DOID:4515']
8943,4515,thyroid sarcoma,"""A thyroid gland cancer that is located_in the supporting cells of the thyroid."" [url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_thyroid_cancer_43.asp]",['NCIthesaurus'],"['NCI:C6041', 'UMLS_CUI:C1336756']",['DOID:1781']
8944,4517,skin angiosarcoma,"""An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration."" [url:http\://ezinearticles.com/?Symptoms-of-Angiosarcoma&id=2101634]",['NCIthesaurus'],"['NCI:C4489', 'SNOMEDCT_US_2022_09_01:254794007', 'UMLS_CUI:C0346081']",['DOID:2687']
8945,452,pleomorphic adenoma,"""A gastrointestinal system benign neoplasm that is a located_in the salivary glands."" [url:http\://en.wikipedia.org/wiki/Pleomorphic_adenoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8940/0', 'MESH:D008949', 'NCI:C35691', 'OMIM:181030', 'SNOMEDCT_US_2022_09_01:8360001', 'UMLS_CUI:C0026277']",['DOID:0050624']
8946,4520,cervical endometrial stromal sarcoma,"""A cervix endometrical stromal tumor that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22986788]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C40220', 'UMLS_CUI:C3642326']",['DOID:4521']
8947,4521,cervix endometrial stromal tumor,"""A cervical cancer that derives_from the fibrous connective tissue of the endometrium."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17619891]",['NCIthesaurus'],"['NCI:C40218', 'UMLS_CUI:C4289586']",['DOID:4362']
8949,4524,prostate angiosarcoma,"""An angiosarcoma and sarcoma of prostate that is located_in the prostate."" [url:http\://informahealthcare.com/doi/abs/10.3109/00313029009063790?journalCode=pat]",['NCIthesaurus'],"['NCI:C5528', 'UMLS_CUI:C1335504']",['DOID:4054']
8950,4525,mediastinum angiosarcoma,"""An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925857/]",['NCIthesaurus'],"['NCI:C6613', 'UMLS_CUI:C1334649']",['DOID:0001816']
8951,4527,ovarian angiosarcoma,"""An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24520828]",['NCIthesaurus'],"['NCI:C5232', 'UMLS_CUI:C1335152']",['DOID:0001816']
8952,4531,mucoepidermoid carcinoma,"""A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation."" [url:http\://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10671', 'ICDO:8430/3', 'MESH:D018277', 'NCI:C3772', 'SNOMEDCT_US_2022_09_01:4079000', 'UMLS_CUI:C0206694']",['DOID:305']
8953,4534,Hallermann-Streiff syndrome,"""A syndrome that affects growth, cranial development, hair growth and dental development."" [url:http\://en.wikipedia.org/wiki/Hallermann-Streiff_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:288', 'MESH:D006210', 'NCI:C84746', 'OMIM:234100', 'ORDO:2108', 'SNOMEDCT_US_2022_09_01:7903009', 'UMLS_CUI:C0018522']",['DOID:225']
8954,4535,hypotrichosis,"""A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis_in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles."" [url:http\://en.wikipedia.org/wiki/Hypotrichosis, url:http\://ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis]","['DO_rare_slim', 'NCIthesaurus']","['MESH:D007039', 'OMIM:PS605389', 'ORDO:55654', 'SNOMEDCT_US_2022_09_01:53602002', 'UMLS_CUI:C0020678']",['DOID:421']
8956,4541,nominal aphasia,"""An agnosia that involves a severe problem with recalling words or names."" [url:http\://en.wikipedia.org/wiki/Nominal_aphasia]",['NCIthesaurus'],"['MESH:D000849', 'NCI:C34386', 'SNOMEDCT_US_2022_09_01:10325006', 'UMLS_CUI:C0003113']",['DOID:0060046']
8958,4543,retrograde amnesia,"""An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection."" [url:http\://en.wikipedia.org/wiki/Amnesia]",['NCIthesaurus'],"['ICD10CM:R41.2', 'MESH:D000648', 'NCI:C34372', 'SNOMEDCT_US_2022_09_01:51921000', 'UMLS_CUI:C0002624']",['DOID:10914']
8961,4547,adult mesenchymal chondrosarcoma,"""An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage."" [url:http\://sarcomahelp.org/learning_center/mesenchymal_chondrosarcoma.html]",['NCIthesaurus'],"['NCI:C27375', 'UMLS_CUI:C1332207']",['DOID:4545']
8963,4549,extraskeletal myxoid chondrosarcoma,"""A chondrosarcoma that is located_in exclusively soft tissue and that is characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern."" [url:https\://en.wikipedia.org/wiki/Myxoid_chondrosarcoma, url:https\://pubmed.ncbi.nlm.nih.gov/10564384/, url:https\://www.ncbi.nlm.nih.gov/pubmed/16084955]",['DO_cancer_slim'],"['ICDO:9231/3', 'MESH:C563195', 'NCI:C27502', 'OMIM:612237', 'SNOMEDCT_US_2022_09_01:404079008', 'UMLS_CUI:C1275278']",['DOID:3371']
8966,4552,large cell carcinoma,"""A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm."" [url:http\://en.wikipedia.org/wiki/Carcinoma]",['NCIthesaurus'],"['ICDO:8012/3', 'MESH:D018287', 'NCI:C3780', 'SNOMEDCT_US_2022_09_01:22687000', 'UMLS_CUI:C0206704']",['DOID:305']
8969,4555,ovarian large-cell neuroendocrine carcinoma,"""An ovarian carcinoma that is characterized by large pleiomorphic cells with large round or oval nuclei, presence of mitoses and staining for neuroendocrine (NE) markers and has_material_basis_in neuroendocrine cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014794/]",['NCIthesaurus'],"['NCI:C5238', 'UMLS_CUI:C1335174']",['DOID:4001']
8973,456,ascariasis,"""A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation."" [url:http\://en.wikipedia.org/wiki/Ascariasis, url:http\://www.dpd.cdc.gov/DPDx/HTML/Ascariasis.htm, url:http\://www.merck.com/mmpe/sec14/ch182/ch182d.html?qt=ascariasis&alt=sh]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B77', 'ICD9CM:127.0', 'MESH:D001196', 'NCI:C128392', 'SNOMEDCT_US_2022_09_01:2435008', 'UMLS_CUI:C0003950']",['DOID:883']
8974,4560,non specific chronic endometritis,"""An endometritis that is present for weeks or more and does not have an identifiable causative organism."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9653909]",['NCIthesaurus'],"['NCI:C27625', 'UMLS_CUI:C1335061']",['DOID:1002']
8975,4561,granulomatous endometritis,"""An endometritis that is characterized by the presence of granulomas in the uterus."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1326899]",['NCIthesaurus'],"['NCI:C27626', 'UMLS_CUI:C1333876']",['DOID:1002']
8984,4603,epidermolytic hyperkeratosis,"""An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth."" [url:https\://dermnetnz.org/topics/epidermolytic-ichthyosis, url:https\://medlineplus.gov/genetics/condition/epidermolytic-hyperkeratosis/]","['DO_rare_slim', 'NCIthesaurus']","['MESH:D017488', 'NCI:C62569', 'OMIM:PS113800', 'UMLS_CUI:C0079153']",['DOID:1697']
8985,4606,bile duct cancer,"""A biliary tract cancer that is located_in the bile duct."" [url:http\://www.cancer.gov/dictionary/?CdrID=527370]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C24.0', 'ICD9CM:156.1', 'MESH:D001650', 'NCI:C2898', 'NCI:C7483', 'SNOMEDCT_US_2022_09_01:93790004', 'UMLS_CUI:C0005396', 'UMLS_CUI:C0153453']",['DOID:4607']
8986,4607,biliary tract cancer,"""A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct."" [url:http\://en.wikipedia.org/wiki/Biliary_tract_cancer]","['DO_cancer_slim', 'DO_rare_slim']","['GARD:5924', 'GARD:9304', 'ICD10CM:C24.9', 'ICD9CM:156.9', 'MESH:D001661', 'SNOMEDCT_US_2022_09_01:126853008', 'SNOMEDCT_US_2022_09_01:93688006', 'UMLS_CUI:C0005426', 'UMLS_CUI:C0750952']",['DOID:0080355']
8989,4610,intestinal benign neoplasm,"""A gastrointestinal system benign neoplasm that is located_in the intestine."" [url:http\://en.wikipedia.org/wiki/Benign_tumor]",['NCIthesaurus'],"['MESH:D007414', 'NCI:C3141', 'SNOMEDCT_US_2022_09_01:126769007', 'UMLS_CUI:C0021841']",['DOID:0050624']
8993,4621,holoprosencephaly,"""A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies."" [url:http\://en.wikipedia.org/wiki/Holoprosencephaly, url:http\://www.ncbi.nlm.nih.gov/books/NBK1530/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6665', 'ICD10CM:Q04.2', 'MESH:D016142', 'NCI:C74988', 'OMIM:PS236100', 'ORDO:2162', 'SNOMEDCT_US_2022_09_01:30915001', 'UMLS_CUI:C0079541']",['DOID:2490']
8994,4624,Ollier disease,"""A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet."" [url:http\://en.wikipedia.org/wiki/Ollier_disease, url:http\://rarediseases.info.nih.gov/GARD/Condition/7251/Ollier_disease.aspx]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7251', 'ICD10CM:Q78.4', 'MESH:D004687', 'NCI:C3213', 'OMIM:166000', 'ORDO:296', 'SNOMEDCT_US_2022_09_01:46041001', 'UMLS_CUI:C0024454']",['DOID:225']
9004,4644,epidermolysis bullosa simplex,"""An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin."" [url:https\://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#genes]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10752', 'ICD10CM:Q81.0', 'MESH:D016110', 'NCI:C84692', 'OMIM:601001', 'OMIM:615425', 'ORDO:304', 'SNOMEDCT_US_2022_09_01:205585003', 'UMLS_CUI:C0079298']",['DOID:2730']
9008,4650,bilateral retinoblastoma,"""A retinoblastoma that develops in both eyes."" [url:http\://en.wikipedia.org/wiki/Retinoblastoma]",['NCIthesaurus'],"['NCI:C8713', 'UMLS_CUI:C0854914']",['DOID:768']
9009,4651,unilateral retinoblastoma,"""A retinoblastoma that effects only one eye."" [url:http\://en.wikipedia.org/wiki/Retinoblastoma]",['NCIthesaurus'],"['NCI:C8714', 'UMLS_CUI:C0854915']",['DOID:768']
9010,4653,intraocular retinoblastoma,"""A retinoblastoma that is located_in the eye and has not spread to other parts of the body."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28620731]",['NCIthesaurus'],"['NCI:C7846', 'UMLS_CUI:C0278717']",['DOID:768']
9011,4656,extraocular retinoblastoma,"""A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body."" [url:http\://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7]",['NCIthesaurus'],"['NCI:C7848', 'UMLS_CUI:C0278719']",['DOID:768']
9016,4662,thalamic disease,"""A brain disease that is characterized by Dejerine-Roussy syndrome that develops from thalamic injury."" [url:https\://en.wikipedia.org/wiki/Thalamus]",['NCIthesaurus'],"['MESH:D013786', 'NCI:C85186', 'UMLS_CUI:C0039726']",['DOID:936']
9020,4674,androgen insensitivity syndrome,"""A disorder of sexual developement that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup."" [url:http\://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome, url:https\://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1429/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5803', 'ICD10CM:E34.5', 'ICD9CM:259.51', 'MESH:D013734', 'NCI:C27226', 'OMIM:300068', 'ORDO:754', 'SNOMEDCT_US_2022_09_01:12313004', 'UMLS_CUI:C0039585']",['DOID:1923']
9023,4677,keratitis,"""A corneal disease that is characterized by inflammation of the cornea."" [url:http\://www.mayoclinic.org/diseases-conditions/keratitis/basics/definition/con-20035288]",['NCIthesaurus'],"['ICD10CM:H16', 'ICD9CM:370', 'MESH:D007634', 'NCI:C26805', 'SNOMEDCT_US_2022_09_01:193757003', 'UMLS_CUI:C0022568']",['DOID:10124']
9024,4678,thymus mucoepidermoid carcinoma,"""A mucoepidermoid carcinoma located_in the thymus."" [url:https\://www.pathologyoutlines.com/topic/salivaryglandsMEC.html]",['NCIthesaurus'],"['NCI:C6457', 'UMLS_CUI:C1334814']",['DOID:4531']
9025,4679,breast mucoepidermoid carcinoma,"""A breast metaplastic carcinoma that is characterized by the presence of four cell types (basaloid, intermediate, epidermoid, and mucinous) in varying proportions."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758243/]",['NCIthesaurus'],"['NCI:C5166', 'UMLS_CUI:C1334813']",['DOID:4680']
9027,4680,breast metaplastic carcinoma,"""A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types."" [url:http\://www.archivesofpathology.org/doi/pdf/10.5858/arpa.2013-0358-RS?code=coap-site, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3388429/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10804', 'ICDO:8575/3', 'NCI:C5164', 'SNOMEDCT_US_2022_09_01:763479005', 'UMLS_CUI:C1334708']",['DOID:3459']
9028,4681,bile duct mucoepidermoid carcinoma,"""A mucoepidermoid carcinoma located_in a bile duct."" [url:https\://pubmed.ncbi.nlm.nih.gov/35140960/, url:https\://pubmed.ncbi.nlm.nih.gov/35697621/]",['NCIthesaurus'],"['NCI:C5862', 'UMLS_CUI:C1332552']",['DOID:4531']
9029,4682,extrahepatic bile duct carcinoma,"""A cholangiocarcinoma that arises from the extrahepatic bile ducts."" [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/extrahepatic-bile-duct-cancer]",['NCIthesaurus'],"['NCI:C3860', 'SNOMEDCT_US_2022_09_01:372101000', 'UMLS_CUI:C0238019']",['DOID:4947']
9031,4685,lacrimal gland mucoepidermoid carcinoma,"""A mucoepidermoid carcinoma located_in the lacrimal gland."" [url:https\://www.pathologyoutlines.com/topic/salivaryglandsMEC.html]",['NCIthesaurus'],"['NCI:C6091', 'UMLS_CUI:C1334359']",['DOID:4531']
9033,4687,thyroid gland mucoepidermoid carcinoma,"""A thyroid gland carcinoma that is composed of groups of squamoid and mucous cells, surrounded by fibrous tissue."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C38762]",['NCIthesaurus'],"['NCI:C38762', 'UMLS_CUI:C1513721']",['DOID:3963']
9034,4688,laryngeal mucoepidermoid carcinoma,"""A mucoepidermoid carcinoma located_in the larynx."" [url:https\://www.pathologyoutlines.com/topic/salivaryglandsMEC.html]",['NCIthesaurus'],"['NCI:C9463', 'UMLS_CUI:C1334373']",['DOID:4531']
9037,4691,malignant mediastinal neurogenic neoplasm,"""A mediastinal cancer that has_material_basis_in neural cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11154721]",['NCIthesaurus'],"['NCI:C6624', 'UMLS_CUI:C1334672']",['DOID:5559']
9038,4692,endophthalmitis,"""A globe disease that is characterized by inflammation of the inside of the eye."" [url:http\://en.wikipedia.org/wiki/Endophthalmitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=endophthalmitis, url:https\://www.merckmanuals.com/home/eye-disorders/uveitis-and-related-disorders/endophthalmitis]",['NCIthesaurus'],"['MESH:D009877', 'NCI:C34586', 'SNOMEDCT_US_2022_09_01:1847009', 'UMLS_CUI:C0014236']",['DOID:1242']
9047,4706,infratentorial cancer,"""A brain cancer that is located_in the infratentorial region."" [url:http\://en.wikipedia.org/wiki/Tentorium_cerebelli, url:http\://www.ncbi.nlm.nih.gov/mesh/68015192]",['NCIthesaurus'],"['ICD10CM:C71.7', 'MESH:D015192', 'NCI:C3139', 'NCI:C4966', 'UMLS_CUI:C0021432', 'UMLS_CUI:C0751593']",['DOID:1319']
9053,4717,extragonadal germ cell cancer,"""A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary."" [url:http\://tcrc.acor.org/egc.html, url:http\://www.cancer.gov/cancertopics/types/extragonadal-germ-cell]",['NCIthesaurus'],"['NCI:C3918', 'NCI:C8881', 'UMLS_CUI:C0262963', 'UMLS_CUI:C1334581']",['DOID:2994']
9054,4719,bone giant cell sarcoma,"""A malignant giant cell tumor that is composed_of multinucleated giant cells."" [url:http\://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone]",['NCIthesaurus'],"['NCI:C4304', 'SNOMEDCT_US_2022_09_01:10069009', 'UMLS_CUI:C0334552']",['DOID:2705']
9058,4730,vasomotor rhinitis,"""A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food."" [url:http\://en.wikipedia.org/wiki/Rhinitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vasomotor%20rhinitis]",['NCIthesaurus'],"['ICD10CM:J30.0', 'MESH:D012223', 'NCI:C34988', 'SNOMEDCT_US_2022_09_01:155537009', 'UMLS_CUI:C0035460']",['DOID:4483']
9061,4737,somatoform disorder,"""A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate."" [url:http\://en.wikipedia.org/wiki/Somatoform_disorder]","['DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:F45', 'ICD10CM:F45.0', 'ICD9CM:300.8', 'ICD9CM:300.81', 'MESH:D013001', 'NCI:C34956', 'SNOMEDCT_US_2022_09_01:192430009', 'SNOMEDCT_US_2022_09_01:60368009', 'UMLS_CUI:C0037650', 'UMLS_CUI:C0520482']",['DOID:150']
9062,4739,testicular Brenner tumor,"""A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C39953, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5245059/]",['NCIthesaurus'],"['NCI:C39953', 'UMLS_CUI:C1515281']",['DOID:2998']
9064,4743,mixed testicular germ cell tumor,"""A mixed germ cell cancer that is located_in the testis."" [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6347', 'UMLS_CUI:C1336720']",['DOID:5556']
9065,4744,placenta accreta,"""A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium."" [url:http\://en.wikipedia.org/wiki/Placenta_accreta]",['NCIthesaurus'],"['ICD10CM:O43.21', 'MESH:D010921', 'NCI:C26856', 'SNOMEDCT_US_2022_09_01:70129008', 'UMLS_CUI:C0032044']",['DOID:780']
9070,4757,testicular sex cord-stromal neoplasm,"""A sex cord-gonadal stromal tumor that is located_in the testis."" [url:https\://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf?dictionary=NCI_Thesaurus&version=18.10e&code=C6358&ns=ncit&type=relationship&key=null&b=1&n=0&vse=null]",['NCIthesaurus'],"['NCI:C39948', 'UMLS_CUI:C1515289']",['DOID:192']
9071,476,breast hemangioma,"""A breast benign neoplasm that is characterized by a collection of excess blood vessels."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22434703]",['NCIthesaurus'],"['NCI:C5353', 'UMLS_CUI:C0853715']",['DOID:0060082']
9073,4765,pulmonary blastoma,"""A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children."" [url:http\://www.cancer.gov/dictionary/?CdrID=446557]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8972/3', 'MESH:D018202', 'NCI:C3732', 'SNOMEDCT_US_2022_09_01:189815007', 'UMLS_CUI:C0206629']",['DOID:1324']
9074,4766,embryoma,"""A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells."" [url:http\://en.wikipedia.org/wiki/Embryoma]",['NCIthesaurus'],"['NCI:C8997', 'SNOMEDCT_US_2022_09_01:86049000', 'UMLS_CUI:C0936282']",['DOID:688']
9077,4769,pleuropulmonary blastoma,"""A pulmonary blastoma that derives_from the lung or pleural cavity."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30480950]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:8757', 'ICDO:8973/3', 'MESH:C537516', 'NCI:C5669', 'ORDO:64742', 'SNOMEDCT_US_2022_09_01:707670009', 'UMLS_CUI:C1266144']",['DOID:4765']
9078,4773,congenital mesoblastic nephroma,"""A kidney cancer that is characterized by the presence of fibroblastic cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588847/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1493', 'MESH:D018201', 'NCI:C6569', 'UMLS_CUI:C1332965']",['DOID:263']
9083,4780,anti-basement membrane glomerulonephritis,"""A Goodpasture syndrome that is characterized by damage to only kidney capillaries."" [url:https\://unckidneycenter.org/kidneyhealthlibrary/glomerular-disease/anti-gbm-disease/]",['NCIthesaurus'],"['NCI:C35798', 'UMLS_CUI:C1332309']",['DOID:9808']
9093,4795,"GM2 gangliosidosis, AB variant","""A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex."" [url:https\://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant]",['NCIthesaurus'],"['MESH:D049290', 'NCI:C133084', 'OMIM:272750', 'SNOMEDCT_US_2022_09_01:71253000', 'UMLS_CUI:C0268275']",['DOID:3321']
9098,480,movement disease,"""A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity."" [url:https\://en.wikipedia.org/wiki/Movement_disorders]",['NCIthesaurus'],"['MESH:D009069', 'NCI:C116757', 'SNOMEDCT_US_2022_09_01:60342002', 'UMLS_CUI:C0026650']",['DOID:936']
9099,4810,cerebrotendinous xanthomatosis,"""A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma."" [url:http\://en.wikipedia.org/wiki/Cerebrotendineous_xanthomatosis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1409/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5622', 'MESH:D019294', 'NCI:C84628', 'OMIM:213700', 'ORDO:909', 'SNOMEDCT_US_2022_09_01:63246000', 'UMLS_CUI:C0238052']",['DOID:3345']
9101,4813,adult brain stem glioma,"""A brain stem cancer that is characterized by mass lesion of the brainstem in adulthood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells and derives_from glial cells."" [url:https\://en.wikipedia.org/wiki/Brainstem_glioma]",['NCIthesaurus'],"['NCI:C9091', 'UMLS_CUI:C0278873']",['DOID:4202']
9102,4817,ganglioneuroma,"""An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum."" [url:https\://medlineplus.gov/ency/article/001437.htm]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9490/0', 'MESH:D005729', 'NCI:C3049', 'NCI:C42065', 'SNOMEDCT_US_2022_09_01:189929007', 'UMLS_CUI:C0017075', 'UMLS_CUI:C1513025']",['DOID:0080321']
9104,4829,adenosquamous lung carcinoma,"""An adenosquamous carcinoma located_in lung that derives_from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells."" [url:https\://en.wikipedia.org/wiki/Adenosquamous_lung_carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C9133', 'UMLS_CUI:C0279557']",['DOID:1324']
9106,4830,adenosquamous carcinoma,"""A squamous cell carcinoma that contains squamous cells and gland-like cells."" [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC476239/]",['NCIthesaurus'],"['ICDO:8560/3', 'MESH:D018196', 'NCI:C3727', 'SNOMEDCT_US_2022_09_01:403902008', 'UMLS_CUI:C0206623']",['DOID:1749']
9107,4837,Gorham's disease,"""A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones."" [url:http\://en.wikipedia.org/wiki/Gorham%27s_disease, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Gorham%27s%20Disease]",['DO_rare_slim'],"['GARD:6542', 'MESH:D010015', 'SNOMEDCT_US_2022_09_01:240161003', 'UMLS_CUI:C0029436']",['DOID:225']
9108,4838,myoepithelial carcinoma,"""A carcinoma that derives_from myoepithelial cells."" [url:http\://www.diagnosticpathology.org/content/3/1/7]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:10558', 'ICDO:8982/3', 'NCI:C7596', 'SNOMEDCT_US_2022_09_01:24292006', 'UMLS_CUI:C0334699']",['DOID:305']
9111,4840,sebaceous carcinoma,"""A skin cancer that arises from the sebaceous glands."" [url:https\://www.mayoclinic.org/diseases-conditions/sebaceous-carcinoma/cdc-20352957]",['NCIthesaurus'],"['ICD10CM:C44', 'ICDO:8410/3', 'NCI:C8409', 'SNOMEDCT_US_2022_09_01:188083002', 'UMLS_CUI:C1382026']",['DOID:4159']
9114,4845,pilomyxoid astrocytoma,"""A pilocytic astrocytoma that is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies."" [url:https\://pubmed.ncbi.nlm.nih.gov/30945015/, url:https\://radiopaedia.org/articles/pilomyxoid-astrocytoma?lang=us]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9425/3', 'NCI:C40315', 'SNOMEDCT_US_2022_09_01:388600004', 'UMLS_CUI:C1519086']",['DOID:4851']
9118,4851,pilocytic astrocytoma,"""A childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain."" [url:http\://en.wikipedia.org/wiki/Pilocytic_astrocytoma, url:http\://www.cancer.gov/dictionary?CdrID=44341]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9808', 'ICDO:9421/1', 'MESH:D001254', 'NCI:C4047', 'SNOMEDCT_US_2022_09_01:67859002', 'UMLS_CUI:C0334583']",['DOID:0080830']
9119,4852,pleomorphic xanthoastrocytoma,"""A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies."" [url:https\://www.cancer.gov/rare-brain-spine-tumor/tumors/pleomorphic-xanthroastrocytoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9424/3', 'NCI:C4323', 'SNOMEDCT_US_2022_09_01:189924002', 'UMLS_CUI:C0334586']",['DOID:0080829']
9123,4857,diffuse astrocytoma,"""A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures."" [url:https\://braintumorcenter.ucsf.edu/condition/diffuse-astrocytoma-grade-ii]",['DO_cancer_slim'],['NCI:C7173'],['DOID:0080829']
9126,4860,brain stem astrocytic neoplasm,"""A brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells derives_from astrocytes."" [url:https\://en.wikipedia.org/wiki/Astrocytoma]",['NCIthesaurus'],"['NCI:C7445', 'SNOMEDCT_US_2022_09_01:107581000119103', 'UMLS_CUI:C1332608']",['DOID:4202']
9128,4866,salivary gland adenoid cystic carcinoma,"""A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes."" [url:https\://oralcancerfoundation.org/facts/rare/adenoid-cystic-carcinoma/]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:D003528', 'NCI:C2970', 'SNOMEDCT_US_2022_09_01:11671000', 'UMLS_CUI:C0010606']",['DOID:0050904']
9129,4867,cervical adenoid cystic carcinoma,"""A cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. It shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. Cytologically, the nuclei are angulated and hyperchromatic, without prominent nucleoli."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26090035, url:https\://www.ncbi.nlm.nih.gov/pubmed/28348909]",['NCIthesaurus'],"['NCI:C6346', 'SNOMEDCT_US_2022_09_01:763064007', 'UMLS_CUI:C1332911']",['DOID:2893']
9138,4877,breast adenoid cystic carcinoma,"""A breast carcinoma that is characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266822/]",['NCIthesaurus'],"['NCI:C5130', 'UMLS_CUI:C1332167']",['DOID:3459']
9139,4878,esophageal adenoid cystic carcinoma,"""An esophageal carcinoma that derives_from epithelial cells of the salivary gland."" [url:http\://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma]",['NCIthesaurus'],"['NCI:C5342', 'UMLS_CUI:C1333441']",['DOID:1107']
9140,4879,Bartholin's gland adenoid cystic carcinoma,"""A Bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic periodic acid-Schiff-positive diastase-resistant material."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17488169]",['NCIthesaurus'],"['NCI:C40295', 'UMLS_CUI:C1511047']",['DOID:3999']
9141,4880,kidney clear cell sarcoma,"""A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope."" [url:http\://en.wikipedia.org/wiki/Clear-cell_sarcoma_of_the_kidney, url:http\://www.cancer.gov/dictionary?CdrID=44997]","['DO_rare_slim', 'NCIthesaurus']","['NCI:C4264', 'ORDO:457246', 'SNOMEDCT_US_2022_09_01:24007003', 'UMLS_CUI:C0334488']",['DOID:4242']
9142,4885,Colorado tick fever,"""A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue."" [url:https\://www.cdc.gov/coloradotickfever/index.html]","['DO_infectious_disease_slim', 'tick-borne_infectious_disease']","['ICD10CM:A93.2', 'MESH:D003121', 'SNOMEDCT_US_2022_09_01:186607005', 'UMLS_CUI:C0009400']",['DOID:934']
9143,4889,lymph node tuberculosis,"""An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough."" [url:https\://pubmed.ncbi.nlm.nih.gov/25131362/, url:https\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['ICD10CM:A18.2', 'MESH:D014388', 'MESH:D018601', 'NCI:C26896', 'SNOMEDCT_US_2022_09_01:10893003', 'UMLS_CUI:C0041316', 'UMLS_CUI:C0242830']",['DOID:0050598']
9144,4890,juvenile myoclonic epilepsy,"""A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years."" [url:http\://en.wikipedia.org/wiki/Juvenile_myoclonic_epilepsy, url:http\://www.epilepsy.com/epilepsy/epilepsy_juvenilemyoclonic, url:http\://www.ilae-epilepsy.org/Visitors/Documents/EngelClassificationRepo]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6808', 'MESH:D020190', 'NCI:C84796', 'OMIM:254770', 'ORDO:307', 'ORDO:862', 'SNOMEDCT_US_2022_09_01:6204001', 'UMLS_CUI:C0270853']",['DOID:0050705']
9145,4892,middle ear adenocarcinoma,"""A middle ear carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C6848', 'UMLS_CUI:C1334758']",['DOID:4893']
9146,4893,middle ear carcinoma,"""A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:http\://en.wikipedia.org/wiki/Carcinoma]",['NCIthesaurus'],"['NCI:C6089', 'UMLS_CUI:C1334760']",['DOID:5099']
9147,4894,rete ovarii adenocarcinoma,"""An ovary adenocarcinoma that arises from the rete ovarii."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21139896]",['NCIthesaurus'],"['NCI:C40017', 'SNOMEDCT_US_2022_09_01:703655009', 'UMLS_CUI:C3840223']",['DOID:3713']
9148,4895,rete ovarii benign neoplasm,"""A female reporoductive organ benign neoplasm that is located_in the rete ovarii."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2852648]",['NCIthesaurus'],"['NCI:C40016', 'UMLS_CUI:C1514909']",['DOID:0060086']
9149,4896,bile duct adenocarcinoma,"""A bile duct carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C27813', 'SNOMEDCT_US_2022_09_01:70179006', 'UMLS_CUI:C1370800']",['DOID:4897']
9150,4897,bile duct carcinoma,"""A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:http\://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_bile_duct_cancer_69.asp]",['NCIthesaurus'],"['MESH:D001650', 'NCI:C27814', 'SNOMEDCT_US_2022_09_01:70179006', 'UMLS_CUI:C0740277']",['DOID:4606']
9153,4902,appendix carcinoma,"""An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:http\://en.wikipedia.org/wiki/Carcinoma]",['NCIthesaurus'],"['NCI:C9330', 'SNOMEDCT_US_2022_09_01:269541000', 'UMLS_CUI:C0728951']",['DOID:11239']
9154,4903,granular cell carcinoma,"""A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm."" [url:http\://en.wikipedia.org/wiki/Granular_cell_tumor]",['NCIthesaurus'],"['ICDO:8320/3', 'MESH:D000230', 'NCI:C3681', 'SNOMEDCT_US_2022_09_01:69028005', 'UMLS_CUI:C0205644']",['DOID:305']
9155,4905,pancreatic carcinoma,"""A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas."" [url:http\://en.wikipedia.org/wiki/Carcinoma, url:http\://www.cancer.gov/cancertopics/types/pancreatic]","['DO_cancer_slim', 'NCIthesaurus']","['EFO:0002618', 'MESH:C562463', 'NCI:C3850', 'OMIM:260350', 'SNOMEDCT_US_2022_09_01:154475002', 'UMLS_CUI:C0235974']",['DOID:1793']
9156,4906,small intestine adenocarcinoma,"""A small intestine carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]","['DO_rare_slim', 'NCIthesaurus']","['GARD:13090', 'NCI:C7888', 'SNOMEDCT_US_2022_09_01:424440001', 'UMLS_CUI:C0278803']",['DOID:4907']
9157,4907,small intestine carcinoma,"""A small intestine cancer that develops from epithelial cells and is located_in the small intestine."" [url:http\://en.wikipedia.org/wiki/Small_intestine_cancer]",['NCIthesaurus'],"['NCI:C7724', 'UMLS_CUI:C0238196']",['DOID:10154']
9158,4908,anal carcinoma,"""A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus."" [url:http\://en.wikipedia.org/wiki/Anal_cancer]",['NCIthesaurus'],"['MESH:D001005', 'NCI:C9291', 'SNOMEDCT_US_2022_09_01:187762000', 'UMLS_CUI:C0279637']",['DOID:14110']
9159,4910,urethra adenocarcinoma,"""An urethra cancer that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C6167', 'UMLS_CUI:C1336885']",['DOID:734']
9160,4914,esophagus adenocarcinoma,"""An esophageal carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:C562730', 'NCI:C4025', 'SNOMEDCT_US_2022_09_01:276803003', 'UMLS_CUI:C0279628']",['DOID:1107']
9163,4917,villous adenocarcinoma,"""An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15489649]",['NCIthesaurus'],"['ICDO:8262/3', 'NCI:C4142', 'SNOMEDCT_US_2022_09_01:28558000', 'UMLS_CUI:C0334306']",['DOID:299']
9164,4918,renal pelvis adenocarcinoma,"""A renal pelvis carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C6143', 'UMLS_CUI:C1335748']",['DOID:4919']
9169,4922,breast secretory carcinoma,"""A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm."" [url:http\://surgpathcriteria.stanford.edu/breast/secretcabr/printable.html]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:C537535', 'NCI:C4189', 'SNOMEDCT_US_2022_09_01:41919003', 'UMLS_CUI:C0334371']",['DOID:3458']
9170,4923,thymus adenocarcinoma,"""A thymic carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C6459', 'UMLS_CUI:C1336743']",['DOID:3284']
9171,4926,bronchiolo-alveolar adenocarcinoma,"""A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension."" [url:https\://en.wikipedia.org/wiki/Adenocarcinoma_in_situ_of_the_lung, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C2923, url:https\://www.ncbi.nlm.nih.gov/pubmed/15562552, url:https\://www.ncbi.nlm.nih.gov/pubmed/9498957]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:D002282', 'NCI:C2923', 'SNOMEDCT_US_2022_09_01:307595008', 'UMLS_CUI:C0007120']",['DOID:3910']
9172,4927,Klatskin's tumor,"""An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts."" [url:https\://meshb.nlm.nih.gov/record/ui?ui=D018285]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10175', 'MESH:D018285', 'NCI:C36077', 'SNOMEDCT_US_2022_09_01:253017000', 'UMLS_CUI:C0206702']",['DOID:4928']
9173,4928,intrahepatic cholangiocarcinoma,"""A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree."" [url:https\://www.dana-farber.org/intrahepatic-cholangiocarcinoma/]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6042', 'ICD10CM:C22.1', 'MESH:D018281', 'NCI:C35417', 'SNOMEDCT_US_2022_09_01:109842005', 'UMLS_CUI:C0345905']",['DOID:4947']
9174,4929,tubular adenocarcinoma,"""An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK553180/]",['NCIthesaurus'],"['ICDO:8211/3', 'MESH:D000230', 'NCI:C65192', 'SNOMEDCT_US_2022_09_01:4631006', 'UMLS_CUI:C0205645']",['DOID:299']
9175,4930,nasal cavity adenocarcinoma,"""A nasal cavity carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C6015', 'UMLS_CUI:C1334920']",['DOID:4931']
9176,4931,nasal cavity carcinoma,"""A nasal cavity cancer that has_material_basis_in epithelial cells."" [url:http\://en.wikipedia.org/wiki/Carcinoma]",['NCIthesaurus'],"['NCI:C9336', 'UMLS_CUI:C1377785']",['DOID:10811']
9177,4932,ampulla of Vater carcinoma,"""An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:http\://en.wikipedia.org/wiki/Carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C3908', 'SNOMEDCT_US_2022_09_01:254609000', 'UMLS_CUI:C0262401']",['DOID:10020']
9178,4933,apocrine carcinoma,"""An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['DO_rare_slim'],"['GARD:12138', 'ICDO:8401/3', 'NCI:C4169', 'SNOMEDCT_US_2022_09_01:57141000', 'UMLS_CUI:C0334346']",['DOID:4934']
9180,4938,ureter adenocarcinoma,"""An ureter carcinoma that derives_from epithelial cells of glandular origin."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C6155', 'UMLS_CUI:C1336873']",['DOID:4939']
9181,4939,ureter carcinoma,"""An ureter cancer that is located_in the ureter."" [url:http\://www.mayoclinic.org/ureter-cancer/]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C8993', 'UMLS_CUI:C0600079']",['DOID:11819']
9182,4943,adenocarcinoma in situ,"""An in situ carcinoma that derives_from epithelial cells of glandular origin."" [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/adenocarcinoma-in-situ]",['NCIthesaurus'],"['ICDO:8140/2', 'MESH:D065311', 'NCI:C4123', 'SNOMEDCT_US_2022_09_01:51642000', 'UMLS_CUI:C0334276']",['DOID:8719']
9184,4947,cholangiocarcinoma,"""A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells."" [url:http\://cancergenome.nih.gov/cancersselected/Cholangiocarcinoma, url:http\://en.wikipedia.org/wiki/Cholangiocarcinoma, url:http\://www.cancer.gov/dictionary?CdrID=335064]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:C22.1', 'ICDO:8160/3', 'MESH:D018281', 'NCI:C4436', 'NCI:C8265', 'SNOMEDCT_US_2022_09_01:70179006', 'UMLS_CUI:C0206698', 'UMLS_CUI:C0280725']",['DOID:4896']
9185,4948,gallbladder carcinoma,"""A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:https\://www.mayoclinic.org/diseases-conditions/gallbladder-cancer/symptoms-causes/syc-20353370]",['NCIthesaurus'],"['NCI:C3844', 'SNOMEDCT_US_2022_09_01:93810008', 'UMLS_CUI:C0235782']",['DOID:3121']
9187,4952,postpoliomyelitis syndrome,"""A poliomyelitis that results in atrophy located in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has symptom muscle weakness, has symptom muscle pain, has symptom sleep apnea, and has symptom breathing problems."" [url:http\://en.wikipedia.org/wiki/Postpolio_syndrome, url:http\://www.mayoclinic.com/health/post-polio-syndrome/DS00494/DSECTION=symptoms]","['DO_infectious_disease_slim', 'DO_rare_slim']","['GARD:4454', 'ICD10CM:G14', 'MESH:D016262', 'SNOMEDCT_US_2022_09_01:31097004', 'UMLS_CUI:C0080040']",['DOID:4953']
9188,4953,poliomyelitis,"""A viral infectious disease that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, has symptom muscle spasms, and has symptom acute flaccid paralysis."" [url:http\://en.wikipedia.org/wiki/Poliomyelitis, url:http\://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf, url:http\://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7413', 'ICD10CM:A80', 'ICD9CM:045', 'MESH:D011051', 'NCI:C35550', 'SNOMEDCT_US_2022_09_01:54839009', 'UMLS_CUI:C0032371']",['DOID:934']
9189,4955,central nervous system melanocytic neoplasm,"""A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has_material_basis_in abnormally proliferating cells derives_from neural crest cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209706/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10403296]",['NCIthesaurus'],"['NCI:C5504', 'SNOMEDCT_US_2022_09_01:277523004', 'UMLS_CUI:C0349623', 'UMLS_CUI:C1332887']",['DOID:3620']
9191,4959,epidermolysis bullosa dystrophica,"""An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen."" [url:https\://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2150', 'ICD10CM:Q81.2', 'MESH:D016108', 'NCI:C84691', 'SNOMEDCT_US_2022_09_01:254185007', 'UMLS_CUI:C0079294']",['DOID:2730']
9193,4960,bone marrow cancer,"""A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow."" [url:http\://nci.nih.gov/dictionary/?CdrID=430857]",['DO_cancer_slim'],"['EFO:0004251', 'ICD10CM:D47.1', 'MESH:D009196', 'SNOMEDCT_US_2022_09_01:128925001', 'UMLS_CUI:C0027022']",['DOID:2531']
9194,4961,bone marrow disease,"""A hematopoietic system disease that is located_in the bone marrow."" [url:https\://medlineplus.gov/bonemarrowdiseases.html]","['DO_RAD_slim', 'NCIthesaurus']","['MESH:D001855', 'NCI:C34433', 'SNOMEDCT_US_2022_09_01:127035006', 'UMLS_CUI:C0005956']",['DOID:74']
9195,4962,pericardial tuberculosis,"""An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction."" [url:https\://pubmed.ncbi.nlm.nih.gov/23843490/, url:https\://pubmed.ncbi.nlm.nih.gov/26699941/, url:https\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD10CM:A18.84', 'MESH:D010495', 'SNOMEDCT_US_2022_09_01:67256000', 'UMLS_CUI:C0031049']",['DOID:0050598']
9196,4964,neurotic disorder,"""An anxiety disorder that involves discress but neither delusions nor hallucinations."" [url:http\://en.wikipedia.org/wiki/Neurosis]",['NCIthesaurus'],"['ICD10CM:F34.1', 'ICD10CM:F48.9', 'MESH:D000275', 'MESH:D003866', 'MESH:D009497', 'NCI:C34533', 'NCI:C34848', 'NCI:C35369', 'SNOMEDCT_US_2022_09_01:154881002', 'SNOMEDCT_US_2022_09_01:78667006', 'SNOMEDCT_US_2022_09_01:87414006', 'UMLS_CUI:C0011579', 'UMLS_CUI:C0027932', 'UMLS_CUI:C0282126']",['DOID:2030']
9198,4969,Gerstmann syndrome,"""A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia."" [url:http\://en.wikipedia.org/wiki/Gerstmann_syndrome, url:http\://www.ninds.nih.gov/disorders/gerstmanns/gerstmanns.htm]",['DO_rare_slim'],"['GARD:8660', 'MEDDRA:10048608', 'MESH:D005862', 'ORDO:221117', 'SNOMEDCT_US_2022_09_01:36785009', 'UMLS_CUI:C0017494']",['DOID:863']
9199,4970,prosopagnosia,"""An agnosia that results in the loss of the ability to consciously recognize familiar faces."" [url:http\://en.wikipedia.org/wiki/Agnosia]",['NCIthesaurus'],"['ICD10CM:R48.3', 'MESH:D020238', 'NCI:C85031', 'SNOMEDCT_US_2022_09_01:18358003', 'UMLS_CUI:C0234512']",['DOID:4090']
9200,4971,myelofibrosis,"""A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue."" [url:http\://en.wikipedia.org/wiki/Myelofibrosis]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:8618', 'ICD10CM:D47.4', 'ICD10CM:D75.81', 'ICD9CM:238.76', 'ICD9CM:289.83', 'MESH:D055728', 'NCI:C2862', 'NCI:C3248', 'OMIM:254450', 'SNOMEDCT_US_2022_09_01:128843003', 'SNOMEDCT_US_2022_09_01:267572005', 'UMLS_CUI:C0001815', 'UMLS_CUI:C0026987']",['DOID:0070004']
9201,4972,myelodysplastic/myeloproliferative neoplasm,"""A myeloid neoplasm that results_in the overproduction of white blood cells."" [url:http\://www.bloodjournal.org/content/114/5/937.long, url:http\://www.bloodjournal.org/content/127/20/2391, url:http\://www.bloodjournal.org/content/128/3/462, url:https\://www.cancer.gov/types/myeloproliferative/patient/mds-mpd-treatment-pdq]",['NCIthesaurus'],"['MESH:D054437', 'NCI:C27262', 'SNOMEDCT_US_2022_09_01:445738007', 'UMLS_CUI:C1301355']",['DOID:0070004']
9202,4974,actinobacillosis,"""A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media."" [url:http\://www.sciencedirect.com/science/article/pii/073646799500066J, url:https\://www.merckvetmanual.com/generalized-conditions/actinobacillosis/actinobacillosis]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'zoonotic_infectious_disease']","['MESH:D000187', 'SNOMEDCT_US_2022_09_01:16140007', 'UMLS_CUI:C0001247']",['DOID:0050339']
9206,4986,nonparalytic poliomyelitis,"""A poliomyelitis that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, and has symptom muscle spasms."" [url:https\://www.mayoclinic.org/diseases-conditions/polio/symptoms-causes/syc-20376512]",['DO_infectious_disease_slim'],"['ICD10CM:A80.4', 'ICD9CM:045.2', 'SNOMEDCT_US_2022_09_01:14535005', 'UMLS_CUI:C0152998']",['DOID:4953']
9208,4989,pancreatitis,"""A pancreas disease that is characterized by inflammation of the pancreas."" [url:https\://medlineplus.gov/pancreatitis.html]",['NCIthesaurus'],"['EFO:0000278', 'ICD10CM:K85.9', 'MESH:D010195', 'NCI:C3306', 'OMIM:167800', 'SNOMEDCT_US_2022_09_01:393591004', 'UMLS_CUI:C0030305']",['DOID:26']
9209,4990,essential tremor,"""A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms."" [url:http\://en.wikipedia.org/wiki/Essential_tremor, url:http\://ghr.nlm.nih.gov/condition/essential-tremor]",['DO_rare_slim'],"['GARD:5910', 'ICD10CM:G25.0', 'MESH:D020329', 'NCI:C182453', 'OMIM:PS190300', 'ORDO:862', 'SNOMEDCT_US_2022_09_01:192839001', 'UMLS_CUI:C0270736']",['DOID:480']
9212,4993,atypical polypoid adenomyoma,"""An adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm."" [url:http\://www.pathologyoutlines.com/topic/uterusapa.html]",['NCIthesaurus'],"['NCI:C6895', 'SNOMEDCT_US_2022_09_01:40293003', 'UMLS_CUI:C1300347']",['DOID:2609']
9213,4994,adenomyoma of uterine corpus,"""A uterine benign neoplasm that has_material_basis_in gland and muscle components."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16990713]",['NCIthesaurus'],"['NCI:C6338', 'UMLS_CUI:C1336903']",['DOID:0060095']
9214,4995,cervical adenomyoma,"""A cervical benign neoplasm that has_material_basis_in gland and muscle components."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24582628]",['NCIthesaurus'],"['NCI:C40231', 'UMLS_CUI:C1516404']",['DOID:0060110']
9215,4997,Camurati-Engelmann disease,"""An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone."" [url:http\://en.wikipedia.org/wiki/Camurati-Engelmann_disease, url:http\://ghr.nlm.nih.gov/condition/camurati-engelmann-disease, url:http\://www.ncbi.nlm.nih.gov/books/NBK1156/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1328, url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Camurati-Engelmann%20Disease]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1072', 'ICD10CM:Q78.3', 'MESH:D003966', 'NCI:C84610', 'OMIM:131300', 'OMIM:606631', 'SNOMEDCT_US_2022_09_01:34643004', 'UMLS_CUI:C0011989']",['DOID:4254']
9216,4998,trichorhinophalangeal syndrome type II,"""A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose."" [url:http\://en.wikipedia.org/wiki/Langer-Giedion_syndrome, url:http\://ghr.nlm.nih.gov/condition/langer-giedion-syndrome, url:http\://www.healthline.com/galecontent/langer-giedion-syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=502, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1074/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7801', 'MESH:D015826', 'NCI:C75118', 'OMIM:150230', 'ORDO:502', 'SNOMEDCT_US_2022_09_01:41069008', 'UMLS_CUI:C0023003']",['DOID:225']
9217,50,thyroid gland disease,"""An endocrine system disease that is located_in the thyroid."" [url:http\://en.wikipedia.org/wiki/Thyroid]",['NCIthesaurus'],"['ICD10CM:E07.9', 'ICD9CM:246.9', 'MESH:D013959', 'NCI:C26893', 'SNOMEDCT_US_2022_09_01:14304000', 'UMLS_CUI:C0040128']",['DOID:28']
9220,5015,fibrolamellar carcinoma,"""A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers."" [url:http\://www.nejm.org/doi/full/10.1056/NEJMra1001683, url:https\://en.wikipedia.org/wiki/Fibrolamellar_hepatocellular_carcinoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['MESH:C537258', 'NCI:C4131', 'ORDO:401920', 'SNOMEDCT_US_2022_09_01:15619004', 'UMLS_CUI:C0334287']",['DOID:684']
9227,5032,pineal gland cancer,"""An endocrine gland located_in the pineal gland located in the brain."" [url:http\://en.wikipedia.org/wiki/Pineal_gland]",['NCIthesaurus'],"['ICD10CM:C75.3', 'ICD9CM:194.4', 'MESH:D010871', 'NCI:C3328', 'NCI:C3573', 'NCI:C6965', 'SNOMEDCT_US_2022_09_01:127026004', 'SNOMEDCT_US_2022_09_01:93962006', 'UMLS_CUI:C0031941', 'UMLS_CUI:C0153655', 'UMLS_CUI:C1412004']",['DOID:170']
9230,5041,esophageal cancer,"""A gastrointestinal system cancer that is located_in the esophagus."" [url:http\://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer, url:http\://en.wikipedia.org/wiki/Esophagus]","['DO_cancer_slim', 'DO_CFDE_slim', 'DO_RAD_slim', 'DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['GARD:6383', 'ICD10CM:C15.3', 'ICD10CM:C15.4', 'ICD10CM:C15.5', 'ICD9CM:150.2', 'ICD9CM:150.3', 'ICD9CM:150.4', 'ICD9CM:150.5', 'ICD9CM:150.8', 'MESH:D004938', 'NCI:C3028', 'NCI:C3533', 'NCI:C3534', 'NCI:C3535', 'NCI:C4764', 'OMIM:133239', 'SNOMEDCT_US_2022_09_01:126817006', 'SNOMEDCT_US_2022_09_01:187729008', 'SNOMEDCT_US_2022_09_01:93656003', 'SNOMEDCT_US_2022_09_01:93877002', 'SNOMEDCT_US_2022_09_01:93895004', 'SNOMEDCT_US_2022_09_01:94119000', 'UMLS_CUI:C0014859', 'UMLS_CUI:C0153413', 'UMLS_CUI:C0153414', 'UMLS_CUI:C0153415', 'UMLS_CUI:C0153416', 'UMLS_CUI:C0496775']",['DOID:3119']
9232,5043,vulvar granular cell tumor,"""A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. They occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei."" [url:https\://en.wikipedia.org/wiki/Granular_cell_tumor, url:https\://www.ncbi.nlm.nih.gov/pubmed/24303488, url:https\://www.ncbi.nlm.nih.gov/pubmed/27510686]",['NCIthesaurus'],"['NCI:C40328', 'UMLS_CUI:C1520083']",['DOID:0060109']
9235,5047,granular cell tumor of the sellar region,"""A posterior pituitary gland neoplasm that arises from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes."" [url:https\://pubmed.ncbi.nlm.nih.gov/32926559/]",['NCIthesaurus'],"['NCI:C7017', 'SNOMEDCT_US_2022_09_01:699331002', 'UMLS_CUI:C1333873']",['DOID:5048']
9236,5048,posterior pituitary gland neoplasm,"""A pituitary gland benign neoplasm that arises from the neurohypophysis."" [url:https\://pubmed.ncbi.nlm.nih.gov/33709954/]",['NCIthesaurus'],"['NCI:C7157', 'UMLS_CUI:C1334957']",['DOID:60009']
9239,5052,melioidosis,"""A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain."" [url:http\://www.cdc.gov/melioidosis/symptoms/index.html]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:9546', 'ICD10CM:A24.9', 'ICD9CM:025', 'MESH:D008554', 'NCI:C128336', 'SNOMEDCT_US_2022_09_01:428111003', 'UMLS_CUI:C0025229']",['DOID:0050338']
9247,5074,high grade ependymoma,"""A high grade glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain."" [url:http\://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9391/3', 'NCI:C6770', 'UMLS_CUI:C1333407']",['DOID:3070']
9251,5078,ganglioglioma,"""A cell type benign neoplasm that has_material_basis_in glial-type cells."" [url:http\://en.wikipedia.org/wiki/Ganglioglioma, url:http\://www.stjude.org/stjude/v/index.jsp?vgnextoid=7e0d061585f70110VgnVCM1000001e0215acRCRD]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:2430', 'ICDO:9505/1', 'MESH:D018303', 'NCI:C27362', 'NCI:C27363', 'NCI:C3788', 'SNOMEDCT_US_2022_09_01:87191000119100', 'UMLS_CUI:C0206716', 'UMLS_CUI:C1332202', 'UMLS_CUI:C1332969']",['DOID:0060084']
9255,5090,sternum cancer,"""A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum."" [url:http\://www.cancer.gov/dictionary/?CdrID=482347]",['NCIthesaurus'],"['NCI:C6730', 'NCI:C8408', 'SNOMEDCT_US_2022_09_01:126559003', 'UMLS_CUI:C1290244', 'UMLS_CUI:C1382025']",['DOID:184']
9256,5093,thoracic cancer,"""An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall."" [url:https\://radonc.ucsf.edu/thoracic-cancers]",['NCIthesaurus'],"['ICD10CM:C76.1', 'ICD9CM:195.1', 'MESH:D013899', 'NCI:C3406', 'NCI:C3576', 'SNOMEDCT_US_2022_09_01:188361007', 'SNOMEDCT_US_2022_09_01:255058005', 'UMLS_CUI:C0039981', 'UMLS_CUI:C0153661']",['DOID:0050686']
9257,5099,middle ear cancer,"""An ear cancer that is located_in the middle ear."" [url:http\://my.clevelandclinic.org/services/head-neck/diseases-conditions/tumors]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['NCI:C4412', 'SNOMEDCT_US_2022_09_01:127006003', 'UMLS_CUI:C0345617']",['DOID:5101']
9260,5102,inner ear cancer,"""An ear cancer located_in the inner ear."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C39784&key=1800983797&b=1&n=null]",['NCIthesaurus'],"['NCI:C39784', 'UMLS_CUI:C1512779']",['DOID:5101']
9264,5117,dermoid cyst of ovary,"""A dermoid cyst that is located_in the ovary."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24056662]",['NCIthesaurus'],"['MESH:C562731', 'NCI:C3856', 'OMIM:166950', 'SNOMEDCT_US_2022_09_01:189116006', 'UMLS_CUI:C0237020']",['DOID:2658']
9265,5118,ovarian cystic teratoma,"""A cystic teratoma that is located_in the ovary."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22902841]",['NCIthesaurus'],"['NCI:C7283', 'UMLS_CUI:C1335155']",['DOID:6231']
9268,5123,mediastinum leiomyoma,"""A thoracic benign neoplasm that derives_from smooth muscle cells and is located_in the mediastinum."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740108/]",['NCIthesaurus'],"['NCI:C6598', 'UMLS_CUI:C1334659']",['DOID:0060097']
9269,5124,fallopian tube leiomyoma,"""A fallopian tube benign neoplasm that has_material_basis_in smooth muscle cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5137476/]",['NCIthesaurus'],"['NCI:C40127', 'UMLS_CUI:C1517115']",['DOID:0060111']
9270,5125,extrahepatic bile duct leiomyoma,"""A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the extrahepatic bile duct."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11896229]",['NCIthesaurus'],"['NCI:C5855', 'UMLS_CUI:C1333507']",['DOID:0050624']
9271,5126,central nervous system leiomyoma,"""A central nervous system benign neoplasm that derives_from smooth muscle cells."" [url:https\://pubmed.ncbi.nlm.nih.gov/30725665/]",['NCIthesaurus'],"['NCI:C6998', 'UMLS_CUI:C1334382']",['DOID:0060090']
9272,5127,bizarre leiomyoma,"""A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures."" [url:http\://www.pathologyoutlines.com/topic/softtissuebizarreleiomyoma.html]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8893/0', 'NCI:C4257', 'SNOMEDCT_US_2022_09_01:48897006', 'UMLS_CUI:C0334478']",['DOID:127']
9273,5128,deep leiomyoma,"""A leiomyoma that is located_in deep soft tissue."" [url:http\://surgpathcriteria.stanford.edu/softsmoothmuscle/soft_tissue_leiomyoma/differentialdiagnosis.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/27186256]",['NCIthesaurus'],"['NCI:C6512', 'UMLS_CUI:C1333266']",['DOID:127']
9276,5134,anus leiomyoma,"""A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9187805]",['NCIthesaurus'],"['NCI:C5608', 'UMLS_CUI:C1332266']",['DOID:0050624']
9277,5136,lung leiomyoma,"""A lung benign neoplasm that derives_from some smooth muscle cell."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26941368]",['NCIthesaurus'],"['NCI:C5660', 'SNOMEDCT_US_2022_09_01:707374005', 'UMLS_CUI:C1334447']",['DOID:3683']
9278,5137,pericardium leiomyoma,"""A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/4453980]",['NCIthesaurus'],"['NCI:C6743', 'UMLS_CUI:C1335380']",['DOID:0060091']
9279,5138,leiomyomatosis,"""A leiomyoma that is multiple and diffuse."" [url:https\://ghr.nlm.nih.gov/condition/hereditary-leiomyomatosis-and-renal-cell-cancer]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8890/1', 'MESH:D018231', 'NCI:C3748', 'SNOMEDCT_US_2022_09_01:1157154004', 'UMLS_CUI:C0206654']",['DOID:127']
9280,5139,cellular leiomyoma,"""A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures."" [url:http\://www.pathologyoutlines.com/topic/uterusleiomyomacellular.html]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8892/0', 'NCI:C4256', 'SNOMEDCT_US_2022_09_01:90955001', 'UMLS_CUI:C0334477']",['DOID:127']
9281,5140,gallbladder leiomyoma,"""A gastrointestinal system benign neoplasm that is located_in the gallbladder and derives_from smooth muscle cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17059154]",['NCIthesaurus'],"['NCI:C5747', 'UMLS_CUI:C1333745']",['DOID:0080640']
9282,5142,vulvar leiomyoma,"""A vulvar benign neoplasm that is located_in smooth muscle cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5080524/]",['NCIthesaurus'],"['NCI:C40326', 'UMLS_CUI:C1520087']",['DOID:0060109']
9283,5143,large bowel leiomyoma,"""An intestinal benign neoplasm that derives_from smooth muscle cells and  that is located_in the large bowel."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17201349]",['NCIthesaurus'],"['NCI:C5677', 'SNOMEDCT_US_2022_09_01:1196826007', 'UMLS_CUI:C1333113']",['DOID:4610']
9284,5146,appendix leiomyoma,"""A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the appendix."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7414395]",['NCIthesaurus'],"['NCI:C5514', 'SNOMEDCT_US_2022_09_01:1196825006', 'UMLS_CUI:C1332327']",['DOID:0050624']
9285,5147,dartoic leiomyoma,"""A reproductive organ benign neoplasm that has_material_basis_in the dartos muscle located_in the scrotum or labia majora."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4483, url:https\://www.ncbi.nlm.nih.gov/pubmed/27529047]",['NCIthesaurus'],"['NCI:C4483', 'SNOMEDCT_US_2022_09_01:254770007', 'UMLS_CUI:C0346066']",['DOID:0050622']
9291,5154,borna disease,"""A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment."" [url:http\://www.biomedcentral.com/1471-244X/10/70]","['DO_infectious_disease_slim', 'zoonotic_infectious_disease']","['MESH:D001890', 'SNOMEDCT_US_2022_09_01:76851008', 'UMLS_CUI:C0006023']",['DOID:934']
9294,5158,pleural cancer,"""A connective tissue cancer that located_in the pleura."" [url:http\://en.wikipedia.org/wiki/Pleural_cavity]",['NCIthesaurus'],"['ICD10CM:C38.4', 'ICD9CM:163', 'MESH:D010997', 'NCI:C3332', 'NCI:C3547', 'SNOMEDCT_US_2022_09_01:126719004', 'SNOMEDCT_US_2022_09_01:363433009', 'UMLS_CUI:C0032229', 'UMLS_CUI:C0153494']",['DOID:201']
9297,5162,arteriolosclerosis,"""An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia."" [url:https\://en.wikipedia.org/wiki/Arteriolosclerosis]",['NCIthesaurus'],"['ICD10CM:I70', 'MESH:D050379', 'NCI:C35543', 'SNOMEDCT_US_2022_09_01:17941002', 'UMLS_CUI:C0878486']",['DOID:2349']
9298,5165,uterine corpus sarcoma,"""An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus."" [url:http\://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9383', 'NCI:C6339', 'SNOMEDCT_US_2022_09_01:254877001', 'UMLS_CUI:C0338113']",['DOID:9460']
9300,5169,ovarian endometrioid stromal sarcoma,"""An ovary sarcoma that arises from endometrial stromal tissue."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609926/]",['NCIthesaurus'],"['NCI:C40065', 'UMLS_CUI:C4288544']",['DOID:2146']
9301,5170,vaginal endometrial stromal sarcoma,"""A vagina sarcoma that has_material_basis_in endometrial stroma."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24294390]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C40270', 'UMLS_CUI:C3642329']",['DOID:1901']
9302,5171,vaginal endometrial stromal tumor,"""A vaginal cancer that has_material_basis_in endometrial stroma."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24294390]",['NCIthesaurus'],"['NCI:C40269', 'UMLS_CUI:C4289585']",['DOID:119']
9309,5183,hereditary Wilms' tumor,"""A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour."" [url:http\://www.cancerindex.org/geneweb/X210202.htm]",['NCIthesaurus'],"['NCI:C8496', 'UMLS_CUI:C0677779']",['DOID:2154']
9312,5190,cervical Wilms' tumor,"""A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10620450]",['NCIthesaurus'],"['NCI:C40236', 'UMLS_CUI:C1516437']",['DOID:4112']
9317,5196,fallopian tube adenomatoid tumor,"""A fallopian tube benign neoplasm that derives_from mesothelium."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/13222203]",['NCIthesaurus'],"['NCI:C40129', 'UMLS_CUI:C1517110']",['DOID:0060111']
9319,520,aortic disease,"""An artery disease that is characterized by degeneration of the cells composing the aortic wall."" [url:http\://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/aorta.html]",['NCIthesaurus'],"['MESH:D001018', 'NCI:C101253', 'SNOMEDCT_US_2022_09_01:47040006', 'UMLS_CUI:C0003493']",['DOID:0050828']
9321,5204,"fructose-1,6-bisphosphatase deficiency","""A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis."" [url:http\://en.wikipedia.org/wiki/Fructose-1\,6-bisphosphatase_deficiency, url:http\://en.wikipedia.org/wiki/Fructose_bisphosphatase_deficiency]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2400', 'ICD10CM:E74.19', 'MESH:D015319', 'NCI:C128119', 'OMIM:229700', 'SNOMEDCT_US_2022_09_01:28183005', 'UMLS_CUI:C0016756']",['DOID:2978']
9322,5207,monodermal teratoma,"""An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm)."" [url:https\://pubs.rsna.org/doi/full/10.1148/radiographics.21.2.g01mr09475]",['NCIthesaurus'],"['NCI:C7286', 'SNOMEDCT_US_2022_09_01:399632009', 'UMLS_CUI:C1302569']",['DOID:5567']
9323,5208,malignant struma ovarii,"""A struma ovarii that is cancerous."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25640097]",['NCIthesaurus'],"['NCI:C4291', 'SNOMEDCT_US_2022_09_01:18854008', 'UMLS_CUI:C0334525']",['DOID:2640']
9324,5209,benign struma ovarii,"""An ovarian benign neoplasm struma ovarii that is not cancerous and that is composed either exclusively or predominantly of thyroid tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25640097]",['NCIthesaurus'],"['NCI:C40012', 'UMLS_CUI:C1511104']",['DOID:0060112']
9325,5212,congenital disorder of glycosylation,"""A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids."" [url:http\://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10307', 'MESH:D018981', 'NCI:C84615', 'ORDO:137', 'SNOMEDCT_US_2022_09_01:238049009', 'UMLS_CUI:C0282577']",['DOID:2978']
9326,5213,chronic inflammatory demyelinating polyradiculoneuropathy,"""An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers."" [url:https\://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6102', 'ICD10CM:G61.81', 'ICD9CM:357.81', 'MESH:D020277', 'NCI:C84636', 'SNOMEDCT_US_2022_09_01:128209004', 'UMLS_CUI:C0393819']",['DOID:0060033']
9340,525,central nervous system vasculitis,"""A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine."" [url:https\://my.clevelandclinic.org/health/diseases/13205-central-nervous-system-vasculitis]",['NCIthesaurus'],"['MESH:D020293', 'NCI:C84622', 'UMLS_CUI:C0751878']",['DOID:865']
9341,5251,inflammatory leiomyosarcoma,"""A leiomyosarcoma that is characterized by a prominent intristic inflammatory component."" [url:https\://www.nature.com/articles/modpathol2017113]",['NCIthesaurus'],"['NCI:C27495', 'UMLS_CUI:C1334179']",['DOID:1967']
9342,5253,conventional leiomyosarcoma,"""A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma."" [url:https\://www.mayoclinic.org/diseases-conditions/leiomyosarcoma/cdc-20387733]",['NCIthesaurus'],"['NCI:C9428', 'UMLS_CUI:C1333157']",['DOID:1967']
9343,5254,central nervous system leiomyosarcoma,"""A leiomyosarcoma that is located_in the central nervous system."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10761660]",['NCIthesaurus'],"['NCI:C6999', 'UMLS_CUI:C1334385']",['DOID:502']
9344,5258,granular cell leiomyosarcoma,"""A leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/3232754]",['NCIthesaurus'],"['NCI:C27494', 'UMLS_CUI:C1333871']",['DOID:1967']
9345,5259,colon leiomyosarcoma,"""A leiomyosarcoma and sarcoma of colon that is located_in the colon."" [url:http\://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm]",['NCIthesaurus'],"['NCI:C5494', 'SNOMEDCT_US_2022_09_01:1156788007', 'UMLS_CUI:C1333093']",['DOID:1967']
9346,526,human immunodeficiency virus infectious disease,"""A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands."" [url:http\://en.wikipedia.org/wiki/HIV, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000602.htm]","['DO_infectious_disease_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['ICD10CM:B20', 'ICD9CM:042-042.99', 'MESH:D015658', 'NCI:C3108', 'SNOMEDCT_US_2022_09_01:86406008', 'UMLS_CUI:C0019693']",['DOID:934']
9347,5260,colon sarcoma,"""A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon."" [url:https\://pubmed.ncbi.nlm.nih.gov/31243197/]",['NCIthesaurus'],"['NCI:C5495', 'UMLS_CUI:C1333098']",['DOID:219']
9349,5262,heart sarcoma,"""A sarcoma and malignant neoplasm of heart that is located_in the heart."" [url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/sarcoma/cardiac-sarcoma]",['NCIthesaurus'],"['NCI:C7723', 'UMLS_CUI:C0238152']",['DOID:117']
9350,5263,ovary leiomyosarcoma,"""An ovary sarcoma that arises from smooth muscle progenitors."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22873115]",['NCIthesaurus'],"['NCI:C5234', 'UMLS_CUI:C1335163']",['DOID:1967']
9351,5264,epithelioid leiomyosarcoma,"""A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28288693]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8891/3', 'MESH:D007890', 'NCI:C3700', 'SNOMEDCT_US_2022_09_01:42392001', 'UMLS_CUI:C0205815']",['DOID:1967']
9352,5265,lung leiomyosarcoma,"""A leiomyosarcoma and sarcoma of lung that is located_in the lung."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774417/]",['NCIthesaurus'],"['NCI:C5667', 'UMLS_CUI:C1334448']",['DOID:1967']
9353,5267,anus leiomyosarcoma,"""A leiomyosarcoma and sarcoma of the anus that is located_in the anus."" [url:http\://www.springerlink.com/content/t57853114066u8n8/]",['NCIthesaurus'],"['NCI:C5599', 'UMLS_CUI:C1332267']",['DOID:1967']
9354,5268,myxoid leiomyosarcoma,"""A leiomyosarcoma that is characterized by abundant myxoid stroma."" [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/leiomyosarcoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/26866354]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8896/3', 'MESH:D007890', 'NCI:C3701', 'SNOMEDCT_US_2022_09_01:189792003', 'UMLS_CUI:C0205816']",['DOID:1967']
9355,5271,small intestine leiomyosarcoma,"""A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines."" [url:http\://en.wikipedia.org/wiki/Leiomyosarcoma]",['NCIthesaurus'],"['NCI:C7085', 'SNOMEDCT_US_2022_09_01:716651004', 'UMLS_CUI:C0920305']",['DOID:1967']
9356,5272,small intestinal sarcoma,"""A sarcoma and malignant tumor of small intestine that is located_in the small intestine."" [url:http\://www.cancer.gov/cancertopics/types/smallintestine]",['NCIthesaurus'],"['NCI:C5335', 'UMLS_CUI:C1336007']",['DOID:10154']
9359,5275,gallbladder leiomyosarcoma,"""A gallbladder sarcoma that is located_in the soft tissues of the gallbladder."" [url:http\://en.wikipedia.org/wiki/Leiomyosarcoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/2278917]",['NCIthesaurus'],"['NCI:C5841', 'UMLS_CUI:C1333746']",['DOID:1967']
9363,5282,prostate leiomyosarcoma,"""A prostate sarcoma that is located_in the prostate."" [url:http\://www3.interscience.wiley.com/journal/112677325/abstract]",['NCIthesaurus'],"['NCI:C5526', 'UMLS_CUI:C1335511']",['DOID:4054']
9364,5283,vagina leiomyosarcoma,"""A vagina sarcoma that has_material_basis_in smooth muscle."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25909129]",['NCIthesaurus'],"['NCI:C6326', 'UMLS_CUI:C1336940']",['DOID:1901']
9366,5285,breast leiomyosarcoma,"""A breast sarcoma that arises from smooth muscle cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094828/]",['NCIthesaurus'],"['NCI:C5186', 'UMLS_CUI:C1332631']",['DOID:3017']
9367,5286,vulvar leiomyosarcoma,"""A vulvar sarcoma that has_material_basis_in smooth muscle cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26010680]",['NCIthesaurus'],['NCI:C40318'],['DOID:2096']
9368,5287,kidney leiomyosarcoma,"""A leiomyosarcoma and sarcoma of kidney that is located_in the kidney."" [url:http\://www.sage-hindawi.com/journals/pri/2010/652398.html]",['NCIthesaurus'],"['NCI:C6183', 'UMLS_CUI:C1335743']",['DOID:4242']
9369,5288,larynx leiomyosarcoma,"""A larynx sarcoma that is a smooth muscle connective tissue tymor  located_in the larynx."" [url:http\://findarticles.com/p/articles/mi_m0BUM/is_7_84/ai_n14920168/]",['NCIthesaurus'],"['NCI:C6022', 'UMLS_CUI:C1334371']",['DOID:1967']
9370,5289,uterus leiomyosarcoma,"""A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus."" [url:http\://en.wikipedia.org/wiki/Leiomyosarcoma]",['NCIthesaurus'],"['NCI:C6340', 'SNOMEDCT_US_2022_09_01:447389009', 'UMLS_CUI:C0280631']",['DOID:5165']
9371,529,blepharospasm,"""A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks."" [url:http\://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5909', 'ICD10CM:G24.5', 'ICD9CM:333.81', 'MESH:D001764', 'NCI:C118723', 'SNOMEDCT_US_2022_09_01:155009007', 'UMLS_CUI:C0005747']",['DOID:0050836']
9372,5292,mediastinum leiomyosarcoma,"""A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels."" [url:https\://pubmed.ncbi.nlm.nih.gov/33776690/, url:https\://pubmed.ncbi.nlm.nih.gov/34446630/]",['NCIthesaurus'],"['NCI:C6619', 'UMLS_CUI:C1334660']",['DOID:1967']
9373,5293,extrahepatic bile duct leiomyosarcoma,"""A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver."" [url:http\://www.cancer.gov/dictionary/?CdrID=44498, url:http\://www.cancer.gov/dictionary/?CdrID=46027]",['NCIthesaurus'],"['NCI:C5848', 'UMLS_CUI:C1333508']",['DOID:1967']
9374,5295,intestinal disease,"""A gastrointestinal system disease that is located_in the intestine."" [url:http\://en.wikipedia.org/wiki/Human_gastrointestinal_tract]",['NCIthesaurus'],"['ICD10CM:K63.9', 'ICD9CM:569.9', 'MESH:D007410', 'NCI:C26801', 'SNOMEDCT_US_2022_09_01:266483008', 'UMLS_CUI:C0021831']",['DOID:77']
9375,5296,liver leiomyosarcoma,"""A leiomyosarcoma and sarcoma of liver that is located_in the liver."" [url:http\://www.cancer.gov/dictionary/?CdrID=46027]",['NCIthesaurus'],"['NCI:C5756', 'UMLS_CUI:C1333969']",['DOID:270']
9376,5297,rectum leiomyosarcoma,"""A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum."" [url:http\://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm]",['NCIthesaurus'],"['NCI:C5549', 'SNOMEDCT_US_2022_09_01:1156783003', 'UMLS_CUI:C1335683']",['DOID:1995']
9377,5299,endometrial clear cell adenocarcinoma,"""An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24817975]",['NCIthesaurus'],"['NCI:C8028', 'UMLS_CUI:C0279765']",['DOID:2870']
9379,530,eyelid disease,"""An adnexa disease that is located_in the eyelid."" [url:http\://en.wikipedia.org/wiki/Eye_disease#H00-H06_Disorders_of_eyelid.2C_lacrimal_system_and_orbit]",['NCIthesaurus'],"['ICD10CM:H02.9', 'ICD9CM:374.9', 'MESH:D005141', 'NCI:C26768', 'SNOMEDCT_US_2022_09_01:60113004', 'UMLS_CUI:C0015423']",['DOID:37']
9380,5301,fallopian tube clear cell adenocarcinoma,"""A fallopian tube adenocarcinoma that derives_from epithelial cells which have clear cytoplasm."" [url:https\://www.hindawi.com/journals/criog/2015/183243/]",['NCIthesaurus'],"['NCI:C6280', 'UMLS_CUI:C1333591']",['DOID:3706']
9381,5302,uterine ligament clear cell adenocarcinoma,"""A uterine ligament adenocarcinoma that derives_from epithelial cells which have clear cytoplasm."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26699941]",['NCIthesaurus'],"['NCI:C40139', 'UMLS_CUI:C5557431']",['DOID:3700']
9382,5303,cervical clear cell adenocarcinoma,"""A cervical adenocarcinoma that derives_from epithelial cells which have clear cytoplasm."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23849091]",['NCIthesaurus'],"['NCI:C6344', 'UMLS_CUI:C1332912']",['DOID:3702']
9383,5304,ovarian clear cell adenocarcinoma,"""A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25398420]",['NCIthesaurus'],"['NCI:C40078', 'SNOMEDCT_US_2022_09_01:763131005', 'UMLS_CUI:C1518693']",['DOID:3713']
9384,5306,bladder clear cell adenocarcinoma,"""A clear cell adenocarcinoma that is located_in the bladder."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183708/]",['NCIthesaurus'],"['NCI:C6179', 'UMLS_CUI:C1332557']",['DOID:3711']
9385,5307,urethra clear cell adenocarcinoma,"""A clear cell adenocarcinoma that is located_in the urethra."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25685552]",['NCIthesaurus'],"['NCI:C6172', 'UMLS_CUI:C1336886']",['DOID:4910']
9388,5310,glycogen-rich clear cell breast carcinoma,"""A glycogen-rich carcinoma that is characterized by predominantly clear cytoplasm due to glycogen."" [url:http\://surgpathcriteria.stanford.edu/breast/glycogencabr/, url:https\://www.ncbi.nlm.nih.gov/pubmed/24400866]",['NCIthesaurus'],"['NCI:C40368', 'UMLS_CUI:C2012261']",['DOID:0081028']
9389,5313,vulvar alveolar soft part sarcoma,"""An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/7060986]",['NCIthesaurus'],"['NCI:C40320', 'UMLS_CUI:C1520069']",['DOID:2096']
9390,5324,fallopian tube germ cell cancer,"""A fallopian tube cancer that derives_from germ cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10202679]",['NCIthesaurus'],"['NCI:C40130', 'UMLS_CUI:C1517114']",['DOID:1964']
9391,5325,Roberts syndrome,"""A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in ESCO2 on chromosome 8p21.1."" [url:https\://ghr.nlm.nih.gov/condition/roberts-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/20101700]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7387', 'MESH:C535687', 'NCI:C4681', 'OMIM:268300', 'ORDO:3103', 'SNOMEDCT_US_2022_09_01:48718006', 'UMLS_CUI:C0392475']",['DOID:225']
9394,5330,dental pulp disease,"""A tooth disease located_in dental pulp."" [url:https\://en.wikipedia.org/wiki/Pulp_%28tooth%29, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C34530]",['NCIthesaurus'],"['MESH:D003788', 'NCI:C34530', 'SNOMEDCT_US_2022_09_01:57203004', 'UMLS_CUI:C0011405']",['DOID:1091']
9402,5342,childhood endodermal sinus tumor,"""An endodermal sinus tumor that occurs in children."" [url:http\://en.wikipedia.org/wiki/Endodermal_sinus_tumor]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C27364', 'UMLS_CUI:C1333016']",['DOID:1911']
9406,5348,adult endodermal sinus tumor,"""An endodermal sinus tumor that occurs in adults."" [url:http\://en.wikipedia.org/wiki/Endodermal_sinus_tumor]",['NCIthesaurus'],"['NCI:C27241', 'UMLS_CUI:C1332221']",['DOID:1911']
9408,535,sleep disorder,"""A disease of mental health that involves disruption of sleep patterns."" [url:http\://en.wikipedia.org/wiki/Sleep_disorder]","['DO_FlyBase_slim', 'DO_RAD_slim']","['ICD9CM:307.4', 'UMLS_CUI:C0154564']",['DOID:150']
9409,5350,ovarian endodermal sinus tumor,"""An ovarian primitive germ cell tumor that has_material_basis_in cells that line the yolk sac of the embryo."" [url:https\://en.wikipedia.org/wiki/Endodermal_sinus_tumor]",['NCIthesaurus'],"['NCI:C8107', 'SNOMEDCT_US_2022_09_01:254876005', 'UMLS_CUI:C0346188']",['DOID:5351']
9410,5351,ovarian primitive germ cell tumor,"""A malignant ovarian germ cell neoplasm that has_material_basis_in primitive germ cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24576031]",['NCIthesaurus'],"['NCI:C39986', 'UMLS_CUI:C1518727']",['DOID:2155']
9411,5353,colonic disease,"""A intestinal disease located in the colon."" [url:https\://www.nature.com/subjects/colonic-diseases]",['DO_RAD_slim'],"['MESH:D003108', 'SNOMEDCT_US_2022_09_01:128524007', 'UMLS_CUI:C0009373']",['DOID:5295']
9412,5362,focal epithelial hyperplasia,"""A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity."" [url:https\://en.wikipedia.org/wiki/Heck%27s_disease]","['DO_infectious_disease_slim', 'NCIthesaurus']","['MESH:D017573', 'NCI:C97083', 'OMIM:229045', 'SNOMEDCT_US_2022_09_01:36949004', 'UMLS_CUI:C0206067']",['DOID:934']
9413,5363,myxoid liposarcoma,"""A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has_material_basis_in chromosomal translocations."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8913727]","['DO_cancer_slim', 'DO_rare_slim']","['GARD:7157', 'ICDO:8852/3', 'MESH:D018208', 'OMIM:613488', 'ORDO:99967', 'SNOMEDCT_US_2022_09_01:404069006', 'UMLS_CUI:C0206634']",['DOID:3382']
9415,5368,Wolffian duct adenocarcinoma,"""A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts."" [url:https\://rarediseases.info.nih.gov/diseases/8680/wolffian-tumor, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230074/]",['NCIthesaurus'],"['NCI:C40254', 'UMLS_CUI:C1516419']",['DOID:3702']
9416,5370,breast hemangiopericytoma,"""A hemangiopericytoma that is manifested in the breast."" [url:https\://pubmed.ncbi.nlm.nih.gov/25688313/]",['NCIthesaurus'],"['NCI:C40396', 'UMLS_CUI:C1511313']",['DOID:3017']
9424,5381,bile duct adenoma,"""A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma."" [url:https\://www.sciencedirect.com/topics/medicine-and-dentistry/bile-duct-adenoma]",['NCIthesaurus'],"['ICDO:8160/0', 'MESH:D002759', 'NCI:C2942', 'SNOMEDCT_US_2022_09_01:39471001', 'UMLS_CUI:C0008309']",['DOID:0050625']
9425,5382,Bartholin's gland adenoma,"""A Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue."" [url:https\://en.wikipedia.org/wiki/Adenoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/18152506]",['NCIthesaurus'],"['NCI:C40299', 'UMLS_CUI:C1511048']",['DOID:2068']
9426,5384,bile duct cystadenoma,"""A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106371/]",['NCIthesaurus'],"['ICDO:8161/0', 'NCI:C4129', 'SNOMEDCT_US_2022_09_01:83025009', 'UMLS_CUI:C0334285']",['DOID:0050625']
9427,5385,mixed cell adenoma,"""An adenoma that has_material_basis_in more than one cell type."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25002356]",['NCIthesaurus'],"['ICDO:8323/0', 'NCI:C4157', 'SNOMEDCT_US_2022_09_01:89773001', 'UMLS_CUI:C0334323']",['DOID:657']
9428,5386,lung adenoma,"""A lung benign neoplasm that derives_from glandular epithelial cells."" [url:https\://www.lungcancer.org/find_information/publications/163-lung_cancer_101/268-types_and_staging]",['NCIthesaurus'],"['NCI:C4455', 'SNOMEDCT_US_2022_09_01:254642004', 'UMLS_CUI:C0345964']",['DOID:3683']
9429,5387,middle ear adenoma,"""A sensory organ benign neoplasm that is located_in the middle ear."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25741045]",['NCIthesaurus'],"['NCI:C6834', 'SNOMEDCT_US_2022_09_01:734078009', 'UMLS_CUI:C1334759']",['DOID:0080619']
9432,5390,clear cell adenoma,"""An adenoma that is composed_of cells with a clear cytoplasm located_in ovary."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4151]",['NCIthesaurus'],"['ICDO:8310/0', 'NCI:C4151', 'SNOMEDCT_US_2022_09_01:1752006', 'UMLS_CUI:C0334315']",['DOID:657']
9438,5396,prolactin producing pituitary tumor,"""A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C7910]",['NCIthesaurus'],"['NCI:C5962', 'NCI:C7910', 'UMLS_CUI:C0278863', 'UMLS_CUI:C1334614']",['DOID:4916']
9439,5398,lipoadenoma,"""An adenoma that is composed_of epithelial cells admixed with adipose tissue cells."" [url:http\://en.wiktionary.org/wiki/lipoadenoma, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4159]",['NCIthesaurus'],"['ICDO:8324/0', 'NCI:C4159', 'SNOMEDCT_US_2022_09_01:22024005', 'UMLS_CUI:C0334325']",['DOID:657']
9441,5401,water-clear cell adenoma,"""An adenoma that derives_from epithelial cells which have clear cytoplasm."" [url:https\://www.pathologyoutlines.com/topic/parathyroidwaterclearadenoma.html]",['NCIthesaurus'],"['ICDO:8322/0', 'NCI:C4155', 'SNOMEDCT_US_2022_09_01:26638004', 'UMLS_CUI:C0334321']",['DOID:657']
9442,5402,vaginal adenoma,"""A vaginal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin."" [url:https\://en.wikipedia.org/wiki/Adenoma]",['NCIthesaurus'],"['NCI:C40256', 'UMLS_CUI:C1519913']",['DOID:0060114']
9443,5403,microcystic adenoma,"""A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells."" [url:http\://surgpathcriteria.stanford.edu/pancreas/serous_microcystic_adenoma/, url:https\://www.ncbi.nlm.nih.gov/pubmed/15559952]",['NCIthesaurus'],"['ICDO:8202/0', 'MESH:D000236', 'NCI:C3685', 'SNOMEDCT_US_2022_09_01:189580001', 'UMLS_CUI:C0205648']",['DOID:3918']
9444,5408,Paget's disease of bone,"""A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs."" [url:http\://en.wikipedia.org/wiki/Paget%27s_disease_of_bone, url:http\://orthoinfo.aaos.org/topic.cfm?topic=A00076, url:http\://www.mayoclinic.com/health/pagets-disease-of-bone/DS00485, url:http\://www.nlm.nih.gov/medlineplus/pagetsdiseaseofbone.html, url:https\://pubmed.ncbi.nlm.nih.gov/37180975/]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0004261', 'GARD:8615', 'ICD10CM:M88', 'MESH:D010001', 'NCI:C3292', 'OMIM:PS167250', 'ORDO:280110', 'SNOMEDCT_US_2022_09_01:2089002', 'UMLS_CUI:C0029401']",['DOID:205']
9445,5409,lung small cell carcinoma,"""A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung."" [url:http\://en.wikipedia.org/wiki/Small-cell_carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['KEGG:05222', 'MESH:D055752', 'NCI:C4917', 'OMIM:182280', 'SNOMEDCT_US_2022_09_01:254632001', 'UMLS_CUI:C0149925']",['DOID:3905']
9449,5418,schizoaffective disorder,"""A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality."" [url:http\://en.wikipedia.org/wiki/Schizoaffective_disorder, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000930.htm]",['NCIthesaurus'],"['ICD10CM:F25', 'ICD9CM:295.7', 'MESH:D011618', 'NCI:C94378', 'SNOMEDCT_US_2022_09_01:231490005', 'UMLS_CUI:C0036337']",['DOID:2468']
9450,5419,schizophrenia,"""A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness."" [url:http\://en.wikipedia.org/wiki/Schizophrenia]","['DO_FlyBase_slim', 'NCIthesaurus']","['EFO:0000692', 'ICD10CM:F20', 'ICD9CM:295', 'MESH:D012559', 'NCI:C3362', 'OMIM:181500', 'SNOMEDCT_US_2022_09_01:58214004', 'UMLS_CUI:C0036341']",['DOID:2468']
9451,5421,lung combined type small cell carcinoma,"""A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells."" [url:http\://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma]",['NCIthesaurus'],"['NCI:C9137', 'UMLS_CUI:C1333125']",['DOID:5409']
9453,5426,primary ovarian insufficiency,"""An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40."" [url:http\://en.wikipedia.org/wiki/Premature_ovarian_failure, url:https\://pubmed.ncbi.nlm.nih.gov/27861765/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477642/]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:E28.3', 'MESH:D016649', 'NCI:C113352', 'OMIM:PS311360', 'ORDO:619', 'SNOMEDCT_US_2022_09_01:237788002', 'UMLS_CUI:C0085215']",['DOID:1100']
9456,543,dystonia,"""A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements."" [url:https\://rarediseases.org/rare-diseases/dystonia/, url:https\://www.mayoclinic.org/diseases-conditions/dystonia/symptoms-causes/syc-20350480, url:https\://www.ninds.nih.gov/disorders/patient-caregiver-education/fact-sheets/dystonias-fact-sheet]","['DO_FlyBase_slim', 'NCIthesaurus']","['ICD10CM:G24', 'MESH:D004421', 'MESH:D020821', 'NCI:C34563', 'OMIM:PS128100', 'SNOMEDCT_US_2022_09_01:15802004', 'SNOMEDCT_US_2022_09_01:250068003', 'UMLS_CUI:C0013421', 'UMLS_CUI:C0393593']",['DOID:480']
9461,5437,intrahepatic bile duct adenoma,"""A bile duct adenoma located_in an intrahepatic bile duct."" [url:https\://pubmed.ncbi.nlm.nih.gov/26191317/, url:https\://pubmed.ncbi.nlm.nih.gov/31149539/, url:https\://pubmed.ncbi.nlm.nih.gov/31798791/]",['NCIthesaurus'],"['NCI:C7126', 'UMLS_CUI:C1331535']",['DOID:5381']
9462,5438,extrahepatic bile duct adenoma,"""A bile duct ademona that is composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium."" [url:http\://www.joplink.net/prev/200803/08.html]",['NCIthesaurus'],"['NCI:C5857', 'SNOMEDCT_US_2022_09_01:1196880004', 'UMLS_CUI:C1331534']",['DOID:5381']
9468,5446,eccrine papillary adenoma,"""A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time."" [url:http\://pubs.sciepub.com/ajmcr/4/9/3/, url:https\://www.ncbi.nlm.nih.gov/pubmed/29582790]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10463', 'ICDO:8408/0', 'NCI:C4173', 'SNOMEDCT_US_2022_09_01:253021007', 'UMLS_CUI:C0334350']",['DOID:173']
9469,5453,pulmonary venoocclusive disease,"""A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension."" [url:https\://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease/, url:https\://pubmed.ncbi.nlm.nih.gov/27009171/, url:https\://pubmed.ncbi.nlm.nih.gov/28118962/, url:https\://pubmed.ncbi.nlm.nih.gov/32252933/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10153', 'MESH:D011668', 'NCI:C85039', 'OMIM:PS265450', 'ORDO:31837', 'SNOMEDCT_US_2022_09_01:89420002', 'UMLS_CUI:C0034091']",['DOID:6432']
9472,5465,conjunctival intraepithelial neoplasm,"""A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772848/, url:https\://www.ncbi.nlm.nih.gov/pubmed/27584160]",['NCIthesaurus'],"['NCI:C6120', 'SNOMEDCT_US_2022_09_01:418134006', 'UMLS_CUI:C1333148']",['DOID:0060071']
9474,5468,biliary papillomatosis,"""A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21988050]",['NCIthesaurus'],"['NCI:C65198', 'SNOMEDCT_US_2022_09_01:128663007', 'UMLS_CUI:C1266038']",['DOID:0050625']
9476,5474,ovarian serous adenofibroma,"""An ovarian benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26881611]",['NCIthesaurus'],"['NCI:C40031', 'UMLS_CUI:C1518729']",['DOID:0060112']
9477,5475,uterine corpus adenofibroma,"""An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."" [url:https\://jcp.bmj.com/content/63/4/377.1.short]",['NCIthesaurus'],"['NCI:C6337', 'UMLS_CUI:C1336901']",['DOID:0060095']
9478,5476,cervical adenofibroma,"""A cervical benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12410376]",['NCIthesaurus'],"['NCI:C40230', 'UMLS_CUI:C1516402']",['DOID:0060110']
9479,5477,clear cell adenofibroma,"""An adenofibroma that is characterized by the presence of cells with clear cytoplasm."" [url:http\://www.jcancer.org/v02p0094.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/24721826]",['NCIthesaurus'],"['ICDO:8313/0', 'MESH:D062625', 'NCI:C8985', 'SNOMEDCT_US_2022_09_01:2962009', 'UMLS_CUI:C0334317']",['DOID:2683']
9480,5478,fallopian tube adenofibroma,"""A fallopian tube benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4246679/]",['NCIthesaurus'],"['NCI:C40113', 'UMLS_CUI:C1517109']",['DOID:0060111']
9481,5479,papillary adenofibroma,"""An adenofibroma that is characterized by finger-like projections on histology."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1595599]",['NCIthesaurus'],"['NCI:C8986', 'SNOMEDCT_US_2022_09_01:2962009', 'UMLS_CUI:C1377850']",['DOID:2683']
9482,5480,ovarian endometrioid adenofibroma,"""An ovarian benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by endometrial tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9631607]",['NCIthesaurus'],['NCI:C27287'],['DOID:0060112']
9483,5482,cystadenofibroma,"""An ovarian benign neoplasm that is composed_of epithelial ovarian tissue."" [url:http\://www.ajronline.org/cgi/content/full/182/5/1259]",['NCIthesaurus'],"['MESH:D062625', 'NCI:C8985', 'SNOMEDCT_US_2022_09_01:2962009', 'UMLS_CUI:C0334317']",['DOID:0060112']
9485,5485,synovial sarcoma,"""A synovium cancer which develops in the synovial membrane of the joints."" [url:http\://en.wikipedia.org/wiki/Synovial_sarcoma, url:http\://www.cancer.gov/dictionary?cdrid=44626]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7721', 'ICDO:9040/3', 'MESH:D013584', 'NCI:C3400', 'OMIM:300813', 'SNOMEDCT_US_2022_09_01:63211008', 'UMLS_CUI:C0039101']",['DOID:2706']
9487,5488,mediastinum synovial sarcoma,"""A synovial sarcoma that is located_in the mediastinum."" [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2001131/]",['NCIthesaurus'],"['NCI:C6618', 'UMLS_CUI:C1334681']",['DOID:5485']
9492,5501,Pediculus humanus capitis infestation,"""A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability."" [url:http\://en.wikipedia.org/wiki/Head-louse_infestation, url:http\://www.dpd.cdc.gov/dpdx/HTML/HeadLice.htm]",['DO_infectious_disease_slim'],"['ICD10CM:B85.0', 'ICD9CM:132.0', 'SNOMEDCT_US_2022_09_01:81000006', 'UMLS_CUI:C0030757']",['DOID:5502']
9493,5502,lice infestation,"""A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera."" [url:http\://en.wikipedia.org/wiki/Pediculosis]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B85.2', 'ICD9CM:132.9', 'MESH:D010373', 'NCI:C128401', 'SNOMEDCT_US_2022_09_01:74949007', 'UMLS_CUI:C0030756']",['DOID:4110']
9494,5503,spinal cord ependymoma,"""A high grade ependymoma that has_material_basis_in cells linking the spinal cord central canal."" [url:http\://www.cancer.gov/dictionary?CdrID=46432]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9391/3', 'NCI:C3875', 'SNOMEDCT_US_2022_09_01:254949006', 'UMLS_CUI:C0238432']",['DOID:5074']
9498,5508,brain stem ependymoma,"""A high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, has_material_basis_in abnormally proliferating cells derives_from ependymal cells."" [url:https\://en.wikipedia.org/wiki/Ependyma, url:https\://en.wikipedia.org/wiki/Ependymoma]",['NCIthesaurus'],"['NCI:C5098', 'SNOMEDCT_US_2022_09_01:107561000119107', 'UMLS_CUI:C1332609']",['DOID:5074']
9502,5511,dysgerminoma of ovary,"""A dysgerminoma that is located_in the ovary."" [url:http\://en.wikipedia.org/wiki/Dysgerminoma, url:http\://www.cancer.gov/dictionary?CdrID=672835]",['NCIthesaurus'],"['NCI:C8106', 'SNOMEDCT_US_2022_09_01:254874008', 'UMLS_CUI:C0346185']",['DOID:4441']
9503,5513,Pediculus humanus corporis infestation,"""A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever."" [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000838.htm]",['DO_infectious_disease_slim'],"['ICD10CM:B85.1', 'ICD9CM:132.1', 'SNOMEDCT_US_2022_09_01:25188002', 'UMLS_CUI:C0030758']",['DOID:5502']
9504,5514,breast squamous cell carcinoma,"""A breast metaplastic carcinoma that arises from squamous epithelial cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931217/]",['NCIthesaurus'],"['NCI:C5177', 'UMLS_CUI:C1336079']",['DOID:4680']
9505,5515,nasal cavity squamous cell carcinoma,"""A nasal cavity carcinoma that has_material_basis_in squamous cells."" [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:D000077195', 'NCI:C8192', 'UMLS_CUI:C0280333']",['DOID:10811']
9506,5516,gastric squamous cell carcinoma,"""A squamous cell carcinoma that is located_in the stomach."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21113875]",['NCIthesaurus'],"['NCI:C5475', 'SNOMEDCT_US_2022_09_01:766980008', 'UMLS_CUI:C1333789']",['DOID:5517']
9507,5517,stomach carcinoma,"""A stomach cancer that is located_in the stomach."" [url:http\://en.wikipedia.org/wiki/Stomach_cancer]","['DO_cancer_slim', 'NCIthesaurus']","['EFO:0000178', 'NCI:C4911', 'SNOMEDCT_US_2022_09_01:154446008', 'UMLS_CUI:C0699791']",['DOID:10534']
9508,5518,penis squamous cell carcinoma,"""A penis carcinoma that has_material_basis_in squamous cells."" [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6979', 'NCI:C7729', 'SNOMEDCT_US_2022_09_01:403468003', 'UMLS_CUI:C0238348', 'UMLS_CUI:C1336081']",['DOID:3449']
9509,5519,colon squamous cell carcinoma,"""A squamous cell carcinoma that is located_in the colon."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10211528]",['NCIthesaurus'],"['NCI:C5490', 'SNOMEDCT_US_2022_09_01:766981007', 'UMLS_CUI:C1333100']",['DOID:1520']
9510,552,pneumonia,"""A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing."" [url:http\://en.wikipedia.org/wiki/Pneumonia]",['NCIthesaurus'],"['MESH:D011014', 'NCI:C3333', 'SNOMEDCT_US_2022_09_01:266391003', 'UMLS_CUI:C0032285']",['DOID:850']
9511,5520,head and neck squamous cell carcinoma,"""A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck."" [url:http\://en.wikipedia.org/wiki/Head_and_neck_cancer#Squamous_cell_carcinoma, url:http\://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck, url:http\://www.cancer.gov/dictionary?CdrID=597171]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:8503', 'MESH:D000077195', 'NCI:C34447', 'OMIM:275355', 'SNOMEDCT_US_2022_09_01:716659002', 'UMLS_CUI:C1168401']",['DOID:1542']
9512,5521,keratinizing squamous cell carcinoma,"""A squamous cell carcinoma that presents as single, isolated cells with bizzare cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris."" [url:http\://books.google.com/books?id=TQju7e__pRIC&pg=PA1132&lpg=PA1132&dq#v=onepage&q&f=false]",['NCIthesaurus'],"['NCI:C4105', 'SNOMEDCT_US_2022_09_01:18048008', 'UMLS_CUI:C0334247']",['DOID:1749']
9513,5522,basaloid squamous cell carcinoma,"""A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19738459]",['NCIthesaurus'],"['ICDO:8083/3', 'NCI:C54244', 'SNOMEDCT_US_2022_09_01:128634009', 'UMLS_CUI:C1266005']",['DOID:1749']
9514,5524,adenoid squamous cell carcinoma,"""A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis."" [url:http\://en.wikipedia.org/wiki/Adenoid_squamous-cell_carcinoma]",['NCIthesaurus'],"['NCI:C4200', 'SNOMEDCT_US_2022_09_01:15176003', 'SNOMEDCT_US_2022_09_01:85956000', 'UMLS_CUI:C0334250', 'UMLS_CUI:C0334393']",['DOID:8858']
9515,5525,anal squamous cell carcinoma,"""An anal carcinoma that arises near the squamocolumnar junction."" [url:http\://en.wikipedia.org/wiki/Anal_cancer]",['NCIthesaurus'],"['NCI:C9161', 'SNOMEDCT_US_2022_09_01:255084004', 'UMLS_CUI:C1412036']",['DOID:4908']
9516,5526,middle ear squamous cell carcinoma,"""A middle ear carcinoma that has_material_basis_in squamous cells."" [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6086', 'UMLS_CUI:C1334762']",['DOID:4893']
9517,5527,ampulla of Vater squamous cell carcinoma,"""An ampulla of Vater carcinoma that derives_from epithelial squamous cells."" [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma]",['NCIthesaurus'],"['NCI:C27417', 'UMLS_CUI:C1332251']",['DOID:4932']
9518,5528,rectum squamous cell carcinoma,"""A squamous cell carcinoma that is located_in the rectum."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25956212]",['NCIthesaurus'],"['NCI:C5554', 'SNOMEDCT_US_2022_09_01:766979005', 'UMLS_CUI:C1335690']",['DOID:1993']
9519,5529,lacrimal gland squamous cell carcinoma,"""A squamous cell carcinoma that is located_in the lacrimal gland."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12724709]",['NCIthesaurus'],"['NCI:C6092', 'UMLS_CUI:C5447980']",['DOID:293']
9520,5530,thymus squamous cell carcinoma,"""A squamous cell carcinoma that is located_in the thymus."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23235139]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6455', 'UMLS_CUI:C1336082']",['DOID:3284']
9521,5531,ovarian squamous cell carcinoma,"""An ovarian carcinoma that derives_from squamous epithelial cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25511544]",['NCIthesaurus'],"['NCI:C40093', 'UMLS_CUI:C2019443']",['DOID:2394']
9522,5533,endometrial squamous cell carcinoma,"""An endometrial carcinoma that has_material_basis_in squamous cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24615329]",['NCIthesaurus'],"['NCI:C8719', 'SNOMEDCT_US_2022_09_01:733359005', 'UMLS_CUI:C1333396']",['DOID:2871']
9523,5534,renal pelvis squamous cell carcinoma,"""A squamous cell carcinoma that is located_in the renal pelvis."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24493112]",['NCIthesaurus'],"['NCI:C7732', 'UMLS_CUI:C0238409']",['DOID:4919']
9524,5535,gallbladder squamous cell carcinoma,"""A squamous cell carcinoma that is located_in the gallbladder."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26236536]",['NCIthesaurus'],"['NCI:C9170', 'UMLS_CUI:C0279658']",['DOID:4948']
9526,5537,squamous cell bile duct carcinoma,"""A squamous cell carcinoma that is located_in the bile duct."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15767732]",['NCIthesaurus'],"['NCI:C5777', 'UMLS_CUI:C0861861']",['DOID:4897']
9527,5538,external ear squamous cell carcinoma,"""A squamous cell carcinoma that is located_in the external ear."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2459330/]",['NCIthesaurus'],"['NCI:C6083', 'UMLS_CUI:C1333494']",['DOID:4288']
9528,5539,ureter squamous cell carcinoma,"""A squamous cell carcinoma that is located_in the ureter."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17574059]",['NCIthesaurus'],"['NCI:C6154', 'UMLS_CUI:C1336879']",['DOID:4939']
9529,5540,fallopian tube squamous cell carcinoma,"""A fallopian tube carcinoma that derives_from squamous epithelial cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22707217]",['NCIthesaurus'],"['NCI:C6282', 'UMLS_CUI:C1333596']",['DOID:1963']
9532,5547,pulmonary artery choriocarcinoma,"""A choriocarcinoma that is located_in the pulmonary artery."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11834687]",['NCIthesaurus'],"['NCI:C5381', 'UMLS_CUI:C1335571']",['DOID:60001']
9533,5550,choriocarcinoma of ovary,"""A malignant ovarian germ cell neoplasm that has_material_basis_in trophoblastic cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129104/]",['NCIthesaurus'],"['NCI:C4515', 'SNOMEDCT_US_2022_09_01:254870004', 'UMLS_CUI:C0346181']",['DOID:2155']
9534,5551,choriocarcinoma of the testis,"""A choriocarcinoma that is located_in the testis."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24949806]",['NCIthesaurus'],"['NCI:C7733', 'SNOMEDCT_US_2022_09_01:147371000119101', 'UMLS_CUI:C0238449']",['DOID:3594']
9537,5557,testicular germ cell cancer,"""A testicular cancer that has_material_basis_in germ cells."" [url:http\://cancergenome.nih.gov/cancersselected/TesticularGermCellCancer, url:http\://www.cancer.gov/dictionary?CdrID=445090, url:http\://www.cancer.gov/dictionary?CdrID=695185]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['MESH:C563236', 'NCI:C8591', 'OMIM:273300', 'OMIM:300228', 'ORDO:3636504', 'SNOMEDCT_US_2022_09_01:713577007', 'UMLS_CUI:C1336708']",['DOID:2998']
9538,5559,mediastinal cancer,"""A thoracic cancer that is located_in the mediastinum."" [url:http\://en.wikipedia.org/wiki/Mediastinal]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C38.3', 'ICD9CM:164.9', 'MESH:D008479', 'NCI:C3221', 'NCI:C3549', 'SNOMEDCT_US_2022_09_01:363494000', 'SNOMEDCT_US_2022_09_01:94147001', 'UMLS_CUI:C0025063', 'UMLS_CUI:C0153504']",['DOID:5093']
9540,5561,gastric teratoma,"""A teratoma that is located_in the stomach or other gastric tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26850909]",['NCIthesaurus'],"['NCI:C5259', 'UMLS_CUI:C1333790']",['DOID:10534']
9541,5563,malignant teratoma,"""A teratoma that is cancerous."" [url:https\://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9080/3', 'MESH:D013724', 'NCI:C4286', 'NCI:C8884', 'SNOMEDCT_US_2022_09_01:1157239001', 'UMLS_CUI:C0334520', 'UMLS_CUI:C0855163']",['DOID:3307']
9542,5564,fallopian tube teratoma,"""A fallopian tube germ cell cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14127249]",['NCIthesaurus'],"['NCI:C40131', 'UMLS_CUI:C1517127']",['DOID:1964']
9543,5565,adult teratoma,"""A benign teratoma that is present in an adult."" [url:https\://www.sciencedirect.com/science/article/pii/B9780702031311000353]",['NCIthesaurus'],"['NCI:C9013', 'SNOMEDCT_US_2022_09_01:42717009', 'UMLS_CUI:C1368898']",['DOID:0080602']
9544,5566,mature teratoma,"""A teratoma that is composed exclusively of mature tissues derived from two or three germ layers."" [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/mature-teratoma]",['NCIthesaurus'],"['ICDO:9080/0', 'NCI:C9015', 'SNOMEDCT_US_2022_09_01:55818009', 'UMLS_CUI:C1368910']",['DOID:3307']
9546,5568,mediastinum teratoma,"""A teratoma that is located_in the mediastinum."" [url:https\://radiopaedia.org/articles/mediastinal-teratoma\,, url:https\://www.sciencedirect.com/science/article/pii/S1755001709000323]",['NCIthesaurus'],"['NCI:C6438', 'UMLS_CUI:C1334682']",['DOID:5559']
9548,557,kidney disease,"""A urinary system disease that is located_in the kidney."" [url:http\://www.nlm.nih.gov/medlineplus/kidneydiseases.html]","['DO_FlyBase_slim', 'DO_RAD_slim', 'NCIthesaurus']","['EFO:0003086', 'ICD10CM:N08', 'MESH:D007674', 'NCI:C3149', 'SNOMEDCT_US_2022_09_01:266612003', 'UMLS_CUI:C0022658']",['DOID:18']
9550,5572,Beckwith-Wiedemann syndrome,"""A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations."" [url:http\://en.wikipedia.org/wiki/Beckwith%E2%80%93Wiedemann_syndrome, url:http\://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/52/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['GARD:3343', 'ICD10CM:Q87.3', 'MESH:D001506', 'NCI:C34415', 'OMIM:130650', 'ORDO:116', 'SNOMEDCT_US_2022_09_01:81780002', 'UMLS_CUI:C0004903']",['DOID:225']
9553,5577,gastrinoma,"""A neuroendocrine tumor that results_in an overproduction of gastric acid."" [url:http\://www.cancer.gov/dictionary?CdrID=44239]",['NCIthesaurus'],"['ICDO:8153/3', 'MESH:D015408', 'NCI:C3050', 'SNOMEDCT_US_2022_09_01:16189002', 'UMLS_CUI:C0017150']",['DOID:169']
9556,5583,lung giant cell carcinoma,"""A lung carcinoma that is located_in large undifferentiated cells."" [url:http\://medical-dictionary.thefreedictionary.com/giant+cell+carcinoma]",['NCIthesaurus'],"['MESH:D018286', 'NCI:C3779', 'NCI:C4452', 'SNOMEDCT_US_2022_09_01:254631008', 'SNOMEDCT_US_2022_09_01:42596004', 'UMLS_CUI:C0206703', 'UMLS_CUI:C0345960']",['DOID:4556']
9558,5587,Volkmann contracture,"""A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26815829]",['NCIthesaurus'],"['ICD10CM:T79.6', 'ICD9CM:958.6', 'MESH:D054061', 'NCI:C35130', 'SNOMEDCT_US_2022_09_01:157667008', 'UMLS_CUI:C0042951']",['DOID:65']
9559,5588,lung papillary adenocarcinoma,"""A papillary adenocarcinoma that is located_in the lung."" [url:https\://radiopaedia.org/articles/mediastinal-teratoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/26766978]",['NCIthesaurus'],"['NCI:C5650', 'UMLS_CUI:C1335325']",['DOID:3910']
9563,5592,breast papillary carcinoma,"""A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244819/]",['NCIthesaurus'],"['NCI:C6870', 'UMLS_CUI:C1336027']",['DOID:3459']
9564,5593,gastric papillary adenocarcinoma,"""A papillary adenocarcinoma that is located_in the stomach."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11984707]",['NCIthesaurus'],"['NCI:C5472', 'UMLS_CUI:C1333785']",['DOID:3717']
9566,5597,fallopian tube papillary adenocarcinoma,"""A fallopian tube adenocarcinoma that is characterized by a papillary growth pattern."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3425272/]",['NCIthesaurus'],"['NCI:C6267', 'UMLS_CUI:C1333595']",['DOID:3706']
9567,5598,fallopian tube serous adenocarcinoma,"""A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25163242]",['NCIthesaurus'],"['NCI:C40099', 'UMLS_CUI:C1517124']",['DOID:3706']
9569,5602,T-cell adult acute lymphocytic leukemia,"""An adult acute lymphocytic leukemia occurring in adults and that has_material_basis_in T cells."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9142]",['NCIthesaurus'],"['NCI:C9142', 'UMLS_CUI:C0279592']",['DOID:5604']
9570,5603,T-cell acute lymphoblastic leukemia,"""An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood."" [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/expand/T]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9729/3', 'ICDO:9837/3', 'MESH:D015458', 'UMLS_CUI:C0023492']",['DOID:9952']
9571,5604,adult acute lymphocytic leukemia,"""An acute lymphocytic leukemia occurring during adulthood."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4967]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C4967', 'UMLS_CUI:C0751606']",['DOID:9952']
9572,5605,breast medullary carcinoma,"""A breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology."" [url:http\://surgpathcriteria.stanford.edu/breast/medcabr/printable.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/24065502]",['NCIthesaurus'],"['NCI:C9119', 'UMLS_CUI:C0860580']",['DOID:3458']
9575,5612,spinal cancer,"""A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer)."" [url:http\://en.wikipedia.org/wiki/Spinal_tumor]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C72.0', 'ICD9CM:192.2', 'MESH:D013120', 'MESH:D013125', 'NCI:C168693', 'NCI:C3381', 'NCI:C3572', 'SNOMEDCT_US_2022_09_01:126962006', 'SNOMEDCT_US_2022_09_01:709289008', 'SNOMEDCT_US_2022_09_01:94068003', 'UMLS_CUI:C0037930', 'UMLS_CUI:C0037939', 'UMLS_CUI:C0153646']",['DOID:3620']
9576,5614,eye disease,"""An eye and adnexa disease that is located_in the eye."" [url:http\://en.wikipedia.org/wiki/Eye_disease]","['DO_FlyBase_slim', 'DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:H44', 'ICD9CM:379.90', 'MESH:D005128', 'NCI:C26767', 'SNOMEDCT_US_2022_09_01:371409005', 'UMLS_CUI:C0015397']",['DOID:0050155']
9579,5621,histiocytic and dendritic cell cancer,"""A sarcoma and hematologic cancer that derives_from follicular lymphoma."" [url:http\://www.springerlink.com/content/h9wrn7p72x26q035/]","['DO_cancer_slim', 'DO_RAD_slim', 'NCIthesaurus']","['NCI:C9294', 'UMLS_CUI:C1334030']",['DOID:2531']
9580,5623,adenosquamous breast carcinoma,"""A breast metaplastic carcinoma that is characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma."" [url:https\://www.nature.com/articles/modpathol201082]",['NCIthesaurus'],"['NCI:C40361', 'UMLS_CUI:C1510796']",['DOID:1612']
9581,5624,adenosquamous bile duct carcinoma,"""A bile duct carcinoma that derives_from squamous cells and gland-like cells."" [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma]",['NCIthesaurus'],"['NCI:C5778', 'UMLS_CUI:C0861854']",['DOID:4606']
9582,5625,esophageal adenosquamous carcinoma,"""An esophageal carcinoma that derives_from squamous cells and gland-like cells."" [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma]",['NCIthesaurus'],['NCI:C27421'],['DOID:5041']
9583,5626,thymus adenosquamous carcinoma,"""A thymic carcinoma that derives_from squamous cells and gland-like cells."" [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma]",['NCIthesaurus'],"['NCI:C6458', 'UMLS_CUI:C1332171']",['DOID:3277']
9584,5627,adenosquamous gallbladder carcinoma,"""A gallbladder carcinoma that derives_from squamous cells and gland-like cells."" [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma]",['NCIthesaurus'],"['NCI:C7356', 'UMLS_CUI:C1333741']",['DOID:4948']
9585,5628,ampulla of Vater adenosquamous carcinoma,"""An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells."" [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma]",['NCIthesaurus'],"['NCI:C27418', 'UMLS_CUI:C1332245']",['DOID:10020']
9586,5629,adenosquamous colon carcinoma,"""A colon carcinoma that derives_from squamous cells and gland-like cells."" [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma]",['NCIthesaurus'],"['NCI:C5491', 'UMLS_CUI:C1333082']",['DOID:219']
9587,5630,Bartholin's gland adenosquamous carcinoma,"""A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells."" [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma]",['NCIthesaurus'],"['NCI:C40296', 'UMLS_CUI:C1511050']",['DOID:3999']
9590,5634,adenosquamous prostate carcinoma,"""A prostate carcinoma that derives_from squamous cells and gland-like cells."" [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma]",['NCIthesaurus'],"['NCI:C5538', 'UMLS_CUI:C1335503']",['DOID:10283']
9592,5636,cervical adenosquamous carcinoma,"""A cervical carcinoma that derives_from squamous cells and gland-like cells."" [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma]",['NCIthesaurus'],"['NCI:C4519', 'SNOMEDCT_US_2022_09_01:254888007', 'UMLS_CUI:C0346202']",['DOID:4362']
9593,5637,pancreatic adenosquamous carcinoma,"""A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells."" [url:http\://en.wikipedia.org/wiki/Adenosquamous_carcinoma, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5721, url:https\://www.ncbi.nlm.nih.gov/pubmed/24859531]",['NCIthesaurus'],"['NCI:C5721', 'UMLS_CUI:C1335299']",['DOID:1793']
9596,5641,diffuse pulmonary fibrosis,"""A pulmonary fibrosis that is characterized by diffuse destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation."" [url:https\://www.sciencedirect.com/science/article/pii/S0954611106004331]",['NCIthesaurus'],"['NCI:C27216', 'UMLS_CUI:C0865849']",['DOID:3770']
9597,5642,localized pulmonary fibrosis,"""A pulmonary fibrosis that is characterized by localized destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation."" [url:https\://www.sciencedirect.com/science/article/pii/S0954611106004331]",['NCIthesaurus'],"['NCI:C27103', 'SNOMEDCT_US_2022_09_01:233726000', 'UMLS_CUI:C0340127']",['DOID:3770']
9600,5648,choroid plexus carcinoma,"""A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus."" [url:http\://en.wikipedia.org/wiki/Carcinoma, url:http\://en.wikipedia.org/wiki/Choroid_plexus_carcinoma, url:http\://www.cancer.gov/dictionary?CdrID=45963]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:8238', 'ICDO:9390/3', 'MESH:C562943', 'NCI:C4533', 'NCI:C4715', 'SNOMEDCT_US_2022_09_01:1156471001', 'SNOMEDCT_US_2022_09_01:188292007', 'UMLS_CUI:C0346289', 'UMLS_CUI:C0431109']",['DOID:3540']
9603,5656,cranial nerve disease,"""A neuropathy that is located_in one of the twelve cranial nerves."" [url:http\://en.wikipedia.org/wiki/Cranial_nerve_disease, url:http\://www.ncbi.nlm.nih.gov/mesh/68003389]",['NCIthesaurus'],"['ICD10CM:G52.9', 'ICD9CM:352.9', 'MESH:D003389', 'NCI:C26733', 'SNOMEDCT_US_2022_09_01:73013002', 'UMLS_CUI:C0010266']",['DOID:870']
9604,5658,lipid-rich carcinoma,"""A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids."" [url:http\://www.pathologyoutlines.com/topic/breastmalignantlipidrich.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/25789031\,]",['NCIthesaurus'],"['ICDO:8314/3', 'NCI:C4152', 'SNOMEDCT_US_2022_09_01:189655006', 'UMLS_CUI:C0334318']",['DOID:3459']
9606,5660,lymphoepithelioma-like carcinoma,"""A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588446/]",['NCIthesaurus'],"['NCI:C4107', 'SNOMEDCT_US_2022_09_01:764938007', 'UMLS_CUI:C0334254']",['DOID:305']
9607,5662,pleomorphic carcinoma,"""A sarcomatoid carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma."" [url:https\://pubmed.ncbi.nlm.nih.gov/35361152/]",['NCIthesaurus'],"['ICDO:8022/3', 'NCI:C4094', 'SNOMEDCT_US_2022_09_01:16741004', 'UMLS_CUI:C0334233']",['DOID:4015']
9608,5665,external ear cancer,"""An ear cancer that is located_in the external ear."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C4652&key=943007722&b=1&n=null]",['NCIthesaurus'],"['NCI:C4653', 'SNOMEDCT_US_2022_09_01:277156006', 'UMLS_CUI:C0349576']",['DOID:5101']
9610,5670,comedo carcinoma,"""A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells."" [url:http\://www.cancer.gov/dictionary/?CdrID=44330, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4188]",['NCIthesaurus'],"['NCI:C4188', 'SNOMEDCT_US_2022_09_01:36425007', 'UMLS_CUI:C0334370']",['DOID:0060074']
9611,5672,large intestine cancer,"""An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other."" [url:http\://en.wikipedia.org/wiki/Large_intestine]","['NCIthesaurus', 'TopNodes_DOcancerslim']","['ICD10CM:C18.9', 'NCI:C4978', 'SNOMEDCT_US_2022_09_01:93854002', 'UMLS_CUI:C0346629']",['DOID:10155']
9612,5675,cribriform carcinoma,"""A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells."" [url:http\://surgpathcriteria.stanford.edu/breast/cribcabr/printable.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/24938660\,]",['NCIthesaurus'],"['ICDO:8201/3', 'MESH:D000230', 'NCI:C3680', 'SNOMEDCT_US_2022_09_01:30156004', 'UMLS_CUI:C0205643']",['DOID:3459']
9613,5677,malignant extragonadal nonseminomatous germ cell tumor,"""An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen."" [url:http\://en.wikipedia.org/wiki/Germ_cell_tumor#Nongerminomatous, url:http\://rarediseases.info.nih.gov/gard/10165/nonseminomatous-germ-cell-tumor/resources/1]","['DO_rare_slim', 'NCIthesaurus']","['NCI:C8885', 'UMLS_CUI:C1334582']",['DOID:1319']
9615,5679,retinal disease,"""An eye disease that is located_in the retina."" [url:http\://en.wikipedia.org/wiki/Retina#Diseases_and_disorders]",['NCIthesaurus'],"['ICD10CM:H35.9', 'ICD9CM:362.9', 'MESH:D012164', 'NCI:C26875', 'SNOMEDCT_US_2022_09_01:29555009', 'UMLS_CUI:C0035309']",['DOID:5614']
9616,5680,embryonal testis carcinoma,"""An embryonal carcinoma that is located_in the testis."" [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma]",['NCIthesaurus'],"['NCI:C6341', 'UMLS_CUI:C0238448']",['DOID:2998']
9617,5681,ovarian embryonal carcinoma,"""An embryonal carcinoma that is located_in the ovary."" [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma]",['NCIthesaurus'],"['NCI:C8108', 'SNOMEDCT_US_2022_09_01:254872007', 'UMLS_CUI:C0346183']",['DOID:2394']
9618,5683,hereditary breast ovarian cancer syndrome,"""A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families."" [url:http\://en.wikipedia.org/wiki/Hereditary_breast%E2%80%93ovarian_cancer_syndrome, url:http\://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page1, url:https\://www.jax.org/education-and-learning/clinical-and-continuing-education/cancer-resources/hereditary-breast-and-ovarian-cancer-syndrome-factsheet, url:https\://www.ncbi.nlm.nih.gov/books/NBK1247/]",['NCIthesaurus'],"['MESH:D061325', 'NCI:C8493', 'SNOMEDCT_US_2022_09_01:718220008', 'UMLS_CUI:C0677776']",['DOID:225']
9619,5684,"spondyloepimetaphyseal dysplasia, Sponastrime type","""A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance."" [url:http\://omim.org/entry/271510, url:https\://www.ncbi.nlm.nih.gov/pubmed/10797420]",['NCIthesaurus'],"['NCI:C92206', 'OMIM:271510', 'UMLS_CUI:C0920349']",['DOID:0080027']
9620,5688,Werner syndrome,"""A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8."" [url:https\://en.wikipedia.org/wiki/Werner_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/15946710, url:https\://www.ncbi.nlm.nih.gov/pubmed/9288107]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7885', 'MESH:D014898', 'NCI:C3447', 'OMIM:277700', 'ORDO:902', 'SNOMEDCT_US_2022_09_01:51626007', 'UMLS_CUI:C0043119']",['DOID:0081332']
9621,5690,well-differentiated liposarcoma,"""A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26645460]","['DO_rare_slim', 'NCIthesaurus']","['MESH:D008080', 'NCI:C176979', 'ORDO:99971', 'SNOMEDCT_US_2022_09_01:28655007', 'UMLS_CUI:C1370889']",['DOID:3382']
9627,5696,larynx liposarcoma,"""A liposarcoma that is located_in the larynx."" [url:http\://www.springerlink.com/content/k571r5t8637pg5p5/]",['NCIthesaurus'],"['NCI:C6021', 'UMLS_CUI:C1334372']",['DOID:3382']
9628,5697,liposarcoma of the ovary,"""An ovary sarcoma that arises from fatty tissue."" [url:https\://pubmed.ncbi.nlm.nih.gov/32656967/]",['NCIthesaurus'],"['NCI:C6419', 'UMLS_CUI:C1335165']",['DOID:3382']
9630,5699,kidney liposarcoma,"""A liposarcoma that is located_in the kidney."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15689251, url:https\://www.ncbi.nlm.nih.gov/pubmed/30050631]",['NCIthesaurus'],"['NCI:C6185', 'UMLS_CUI:C1335745']",['DOID:3382']
9631,57,aortic valve insufficiency,"""An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle."" [url:http\://en.wikipedia.org/wiki/Aortic_insufficiency]",['NCIthesaurus'],"['ICD10CM:I06.1', 'ICD9CM:395.1', 'ICD9CM:396.3', 'MESH:D001022', 'NCI:C51223', 'SNOMEDCT_US_2022_09_01:155283004', 'SNOMEDCT_US_2022_09_01:194736003', 'SNOMEDCT_US_2022_09_01:60234000', 'UMLS_CUI:C0003504', 'UMLS_CUI:C0155568', 'UMLS_CUI:C0264774']",['DOID:62']
9633,5701,breast liposarcoma,"""A breast sarcoma that arises from fat cells."" [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/liposarcoma]",['NCIthesaurus'],"['NCI:C5187', 'UMLS_CUI:C1332632']",['DOID:3017']
9640,5711,vulvar liposarcoma,"""A vulvar sarcoma that has_material_basis_in adipocytes."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25469348]",['NCIthesaurus'],['NCI:C40321'],['DOID:3382']
9642,5713,mediastinum liposarcoma,"""A liposarcoma that is located_in the mediastinum."" [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222671/]",['NCIthesaurus'],"['NCI:C6614', 'UMLS_CUI:C1334663']",['DOID:3382']
9646,5718,adrenal neuroblastoma,"""An adrenal gland cancer that derives_from immature neuroblastic cells."" [url:http\://en.wikipedia.org/wiki/Adrenal_tumor#Neuroblastoma, url:http\://www.cancer.gov/cancertopics/types/neuroblastoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C4827', 'SNOMEDCT_US_2022_09_01:281562007', 'UMLS_CUI:C0559460']",['DOID:3953']
9647,5719,adrenal medulla cancer,"""An adrenal gland cancer that is located_in the adrenal medulla."" [url:http\://en.wikipedia.org/wiki/Adrenal_tumor#Tumors_of_the_Adrenal_Medulla]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5755', 'ICD10CM:C74.1', 'NCI:C4396', 'NCI:C4856', 'SNOMEDCT_US_2022_09_01:127023007', 'SNOMEDCT_US_2022_09_01:93666006', 'UMLS_CUI:C0344456', 'UMLS_CUI:C0596046']",['DOID:3953']
9649,5723,optic atrophy,"""An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve."" [url:https\://eyewiki.aao.org/Optic_Atrophy]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['ICD10CM:H47.2', 'ICD9CM:377.1', 'MESH:D009896', 'NCI:C34863', 'OMIM:PS165500', 'ORDO:98673', 'SNOMEDCT_US_2022_09_01:155188004', 'UMLS_CUI:C0029124']",['DOID:1891']
9650,5724,seminal vesicle cystadenoma,"""A seminal vesicle tumor that derives_from glandular epithelial cells and that is located_in the seminal vesicle."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4996551/]",['NCIthesaurus'],"['NCI:C39907', 'UMLS_CUI:C1519234']",['DOID:3855']
9651,5725,rete ovarii cystadenoma,"""A rete ovarii adenoma that is characterized by the presence of cysts and/or cystic spaces."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2852648]",['NCIthesaurus'],"['NCI:C40019', 'UMLS_CUI:C1514907']",['DOID:6837']
9652,5726,uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease,"""A uterine benign neoplasm that is located_in the uterine ligament and has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed and is characterized by the formation of fingerlike projections."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22296276]",['NCIthesaurus'],"['NCI:C40142', 'UMLS_CUI:C3642324']",['DOID:0060095']
9653,5727,uterine ligament cancer,"""A uterine cancer that is located_in the ligaments that support the uterus."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931904/]",['NCIthesaurus'],"['NCI:C40133', 'UMLS_CUI:C1519870']",['DOID:363']
9654,5728,diffuse peritoneal leiomyomatosis,"""A peritoneal benign neoplasm that is located throughout the peritoneum and derives_from smooth muscle."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23815223]","['DO_rare_slim', 'NCIthesaurus']","['GARD:12843', 'NCI:C3958', 'SNOMEDCT_US_2022_09_01:62557001', 'UMLS_CUI:C0267785']",['DOID:0060117']
9655,5729,intravenous leiomyomatosis,"""A leiomyomatosis that is located within the blood vessels."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762011/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10802', 'NCI:C4518', 'SNOMEDCT_US_2022_09_01:254883003', 'UMLS_CUI:C0346200']",['DOID:178']
9657,5730,salpingitis isthmica nodosa,"""A chronic salpingitis that is caused by is nodular thickening of the narrow part of the uterine tube, due to inflammation."" [url:https\://en.wikipedia.org/wiki/Salpingitis_isthmica_nodosa]",['NCIthesaurus'],"['NCI:C40119', 'SNOMEDCT_US_2022_09_01:36742000', 'UMLS_CUI:C0269043']",['DOID:5731']
9660,5733,salpingitis,"""A fallopian tube disease that is characterized by inflammation of the fallopian tube."" [url:https\://en.wikipedia.org/wiki/Salpingitis]",['NCIthesaurus'],"['ICD10CM:N70.91', 'MESH:D012488', 'NCI:C26880', 'SNOMEDCT_US_2022_09_01:155968004', 'UMLS_CUI:C0036130']",['DOID:1962']
9661,574,peripheral nervous system disease,"""A nervous system disease that affects the peripheral nervous system."" [url:http\://en.wikipedia.org/w/index.php?title=Peripheral_neuropathy&redirect=no]","['DO_AGR_slim', 'DO_CFDE_slim', 'DO_GXD_slim', 'NCIthesaurus']","['NCI:C119734', 'NCI:C27587', 'UMLS_CUI:C0031117', 'UMLS_CUI:C1335029']",['DOID:863']
9664,5742,pancreatic acinar cell adenocarcinoma,"""A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase."" [url:http\://en.wikipedia.org/wiki/Acinar_cell_carcinoma_of_the_pancreas, url:http\://www.pathologyoutlines.com/topic/pancreasacinar.html]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C7977', 'SNOMEDCT_US_2022_09_01:783771003', 'UMLS_CUI:C0279661']",['DOID:4074']
9665,5743,acinic cell breast carcinoma,"""A breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148534/]",['NCIthesaurus'],"['NCI:C40367', 'UMLS_CUI:C1515868']",['DOID:3458']
9666,5744,ovary serous adenocarcinoma,"""An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity)."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma, url:http\://en.wikipedia.org/wiki/Serous_carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C40025', 'NCI:C7550', 'UMLS_CUI:C1335177', 'UMLS_CUI:C1518234']",['DOID:3713']
9667,5746,ovarian serous cystadenocarcinoma,"""An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed."" [url:http\://cancergenome.nih.gov/cancersselected/ovarian, url:http\://en.wikipedia.org/wiki/Serous_cystadenocarcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C7978', 'UMLS_CUI:C0279663']",['DOID:3605']
9668,5747,uterine ligament serous adenocarcinoma,"""A uterine ligament adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions."" [url:https\://journals.sagepub.com/doi/pdf/10.1177/1066896915622690]",['NCIthesaurus'],"['NCI:C40136', 'UMLS_CUI:C1519872']",['DOID:3700']
9671,5750,endometrial serous adenocarcinoma,"""A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores,  marked nuclear atypia, psammoma bodies and cilia."" [url:http\://en.wikipedia.org/wiki/Uterine_serous_carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C27838', 'UMLS_CUI:C0854924']",['DOID:9460']
9672,5751,pancreatic serous cystadenocarcinoma,"""A serous cystadenocarcinoma tha tis located_in the pancreas."" [url:https\://en.wikipedia.org/wiki/Pancreatic_serous_cystadenoma]",['NCIthesaurus'],"['NCI:C5724', 'SNOMEDCT_US_2022_09_01:690801000119108', 'UMLS_CUI:C1335315']",['DOID:4073']
9673,5752,cervical serous adenocarcinoma,"""A cervical adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25370301]",['NCIthesaurus'],"['NCI:C40201', 'UMLS_CUI:C1516431']",['DOID:3702']
9674,5757,endocervicitis,"""A cervicitis that is located_in the endocervix."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23134447, url:https\://www.ncbi.nlm.nih.gov/pubmed/29370498]",['NCIthesaurus'],"['NCI:C26762', 'SNOMEDCT_US_2022_09_01:155980007', 'UMLS_CUI:C0014127']",['DOID:2568']
9677,576,proteinuria,"""A kidney disease that is characterized by the presence of excess proteins in the urine."" [url:https\://en.wikipedia.org/wiki/Proteinuria]",['NCIthesaurus'],"['ICD10CM:R80', 'ICD9CM:791.0', 'MESH:D011507', 'NCI:C38012', 'SNOMEDCT_US_2022_09_01:144515004', 'UMLS_CUI:C0033687']",['DOID:557']
9678,5760,sebaceous breast carcinoma,"""A breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. It is a distinct variant of invasive ductal carcinoma."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5323417/]",['NCIthesaurus'],"['NCI:C40369', 'UMLS_CUI:C1519207']",['DOID:3459']
9679,5761,vulvar sebaceous carcinoma,"""A vulva carcinoma that is characterized by the presence of sebaceous secretions."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10535578]",['NCIthesaurus'],"['NCI:C40309', 'UMLS_CUI:C1520094']",['DOID:1294']
9684,5768,Nager acrofacial dysostosis,"""An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children."" [url:http\://en.wikipedia.org/wiki/Nager_acrofacial_dysostosis, url:http\://ghr.nlm.nih.gov/condition/nager-syndrome, url:https\://www.faces-cranio.org/nager]","['DO_rare_slim', 'NCIthesaurus']","['GARD:498', 'NCI:C35795', 'OMIM:154400', 'UMLS_CUI:C1332140']",['DOID:0060379']
9686,5772,central nervous system hematologic cancer,"""A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system."" [url:https\://www.merckmanuals.com/professional/ear\,-nose\,-and-throat-disorders/tumors-of-the-head-and-neck/jaw-tumors]",['NCIthesaurus'],"['NCI:C5503', 'UMLS_CUI:C1332882']",['DOID:3620']
9687,5773,oral submucous fibrosis,"""A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues."" [url:https\://en.wikipedia.org/wiki/Oral_submucous_fibrosis, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627879/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7264', 'ICD10CM:K13.5', 'ICD9CM:528.8', 'MESH:D009914', 'NCI:C34866', 'SNOMEDCT_US_2022_09_01:32883009', 'UMLS_CUI:C0029171', 'UMLS_CUI:C0029172']",['DOID:403']
9697,580,uric acid nephrolithiasis,"""A nephrolithiasis that is characterized by stones composed predominantly uric acid."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1831527/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4100778/]",['NCIthesaurus'],"['ICD9CM:274.11', 'NCI:C123245', 'OMIM:605990', 'SNOMEDCT_US_2022_09_01:267441009', 'UMLS_CUI:C0403719']",['DOID:585']
9699,5805,subvalvular aortic stenosis,"""An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26731888, url:https\://www.ncbi.nlm.nih.gov/pubmed/29377232]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5052', 'MESH:D001020', 'NCI:C85172', 'SNOMEDCT_US_2022_09_01:250915007', 'UMLS_CUI:C0340375']",['DOID:1712']
9702,5810,adenosine deaminase deficiency,"""A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP."" [url:http\://en.wikipedia.org/wiki/Severe_combined_immunodeficiency, url:https\://pubmed.ncbi.nlm.nih.gov/2166947/, url:https\://pubmed.ncbi.nlm.nih.gov/2783588/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5748', 'ICD10CM:D81.30', 'NCI:C3962', 'OMIM:102700', 'SNOMEDCT_US_2022_09_01:190999009', 'UMLS_CUI:C0268124']",['DOID:627']
9703,5812,MHC class II deficiency,"""A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes."" [url:https\://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-ii, url:https\://www.omim.org/entry/209920]",['NCIthesaurus'],"['ICD10CM:D81.6', 'MESH:D016511', 'NCI:C3895', 'OMIM:209920', 'SNOMEDCT_US_2022_09_01:71904008', 'UMLS_CUI:C0242583']",['DOID:627']
9704,5813,purine nucleoside phosphorylase deficiency,"""A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function."" [url:http\://en.wikipedia.org/wiki/Purine_nucleoside_phosphorylase_deficiency, url:https\://pubmed.ncbi.nlm.nih.gov/1384322/, url:https\://pubmed.ncbi.nlm.nih.gov/3029074/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4606', 'ICD10CM:D81.5', 'MESH:C562587', 'NCI:C176817', 'OMIM:613179', 'ORDO:760', 'SNOMEDCT_US_2022_09_01:60743005', 'UMLS_CUI:C0268125']",['DOID:628']
9705,5815,cerebral lymphoma,"""A cerebrum cancer that affects the lymph cells and derives_from the brain."" [url:http\://en.wikipedia.org/wiki/Primary_central_nervous_system_lymphoma, url:http\://www.cancer.gov/cancertopics/pdq/treatment/primary-CNS-lymphoma/Patient/page1, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000734.htm, url:https\://www.ncbi.nlm.nih.gov/pubmed/10563426]",['NCIthesaurus'],"['NCI:C7611', 'SNOMEDCT_US_2022_09_01:276836002', 'UMLS_CUI:C0240803']",['DOID:368']
9707,5820,composite lymphoma,"""A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time."" [url:http\://www.cancer.gov/dictionary/?CdrID=633086]",['NCIthesaurus'],"['MESH:D058617', 'NCI:C38661', 'SNOMEDCT_US_2022_09_01:1156403002', 'UMLS_CUI:C0545080']",['DOID:707']
9709,5822,gray zone lymphoma,"""A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas."" [url:http\://en.wikipedia.org/wiki/Gray_zone_lymphoma]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10897', 'NCI:C37869', 'SNOMEDCT_US_2022_09_01:722954005', 'UMLS_CUI:C1333878']",['DOID:0060058']
9713,5828,endometrioid ovary carcinoma,"""An ovary adenocarcinoma that has_material_basis_in endometrial tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25120828]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C7979', 'SNOMEDCT_US_2022_09_01:254852002', 'UMLS_CUI:C0346163']",['DOID:3713']
9714,5829,uterine ligament endometrioid adenocarcinoma,"""A uterine ligament adenocarcinoma that derives_from endometrial epithelial cells of glandular origin."" [url:https\://journals.sagepub.com/doi/pdf/10.1177/1066896915622690]",['NCIthesaurus'],"['NCI:C40138', 'UMLS_CUI:C5557430']",['DOID:3700']
9716,5830,cervical endometrioid adenocarcinoma,"""A cervical adenocarcinoma that derives_from endometrial epithelial cells of glandular origin."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23722512]",['NCIthesaurus'],"['NCI:C6343', 'UMLS_CUI:C1332913']",['DOID:3702']
9717,5831,fallopian tube endometrioid adenocarcinoma,"""A fallopian tube adenocarcinoma that derives_from endometrial epithelial cells of glandular origin."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8946874]",['NCIthesaurus'],"['NCI:C40111', 'NCI:C6279', 'UMLS_CUI:C1333592', 'UMLS_CUI:C1517113']",['DOID:3706']
9722,5844,myocardial infarction,"""A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia."" [url:https\://en.wikipedia.org/wiki/Myocardial_infarction, url:https\://www.ncbi.nlm.nih.gov/pubmed/17951287]",['NCIthesaurus'],"['EFO:0000612', 'ICD10CM:I21', 'MESH:D009203', 'NCI:C27996', 'OMIM:608557', 'SNOMEDCT_US_2022_09_01:66514008', 'UMLS_CUI:C0027051']",['DOID:3393']
9740,5870,eosinophilic pneumonia,"""A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night."" [url:http\://en.wikipedia.org/wiki/Eosinophilic_pneumonia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:107', 'ICD10CM:J82.81', 'MESH:D011657', 'NCI:C35150', 'SNOMEDCT_US_2022_09_01:196145005', 'UMLS_CUI:C1527407']",['DOID:552']
9742,5875,retroperitoneal cancer,"""A thoracic cancer located_in the retroperitoneal space in the abdominal cavity behind the peritoneum."" [url:http\://en.wikipedia.org/wiki/Retroperitoneal_space]","['DO_MGI_slim', 'NCIthesaurus']","['ICD10CM:C48', 'ICD10CM:C48.0', 'ICD9CM:158', 'ICD9CM:158.0', 'MESH:D012186', 'NCI:C3357', 'NCI:C3537', 'SNOMEDCT_US_2022_09_01:187801002', 'SNOMEDCT_US_2022_09_01:254617008', 'SNOMEDCT_US_2022_09_01:363420003', 'UMLS_CUI:C0035358', 'UMLS_CUI:C0153464', 'UMLS_CUI:C0153465']",['DOID:5093']
9751,5895,clear cell cystadenofibroma,"""A cystadenofibroma that is characterized by the presence of cells with clear cytoplasm."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/514560]",['NCIthesaurus'],"['NCI:C8988', 'SNOMEDCT_US_2022_09_01:58161009', 'UMLS_CUI:C1377853']",['DOID:5482']
9752,5896,ovarian clear cell cystadenofibroma,"""An ovarian clear cell adenofibroma that is characterized by the presence of cysts and/or cystic spaces."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/6692303]",['NCIthesaurus'],"['NCI:C40086', 'UMLS_CUI:C1518695']",['DOID:5897']
9753,5897,ovarian clear cell adenofibroma,"""An ovarian benign neoplasm that is characterized by the presence of serous fluid and has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28861185]",['NCIthesaurus'],"['NCI:C40085', 'UMLS_CUI:C1518694']",['DOID:0060112']
9754,5900,meningeal melanocytoma,"""A central nervous system benign neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges."" [url:https\://radiopaedia.org/articles/meningeal-melanocytosis?lang=us]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['ICDO:8728/1', 'NCI:C4662', 'ORDO:252046', 'SNOMEDCT_US_2022_09_01:128730009', 'UMLS_CUI:C1266113']",['DOID:0060090']
9757,591,phobic disorder,"""An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation."" [url:http\://en.wikipedia.org/wiki/Anxiety_disorder]",['NCIthesaurus'],"['ICD10CM:F40', 'ICD9CM:300.20', 'MESH:D010698', 'NCI:C35420', 'SNOMEDCT_US_2022_09_01:52039009', 'UMLS_CUI:C0349231']",['DOID:2030']
9761,5916,uterine corpus leiomyomatosis,"""An uterine benign neoplasm that is characterized by the presence of multiple tumors composed of smooth muscle cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23383444, url:https\://www.uptodate.com/contents/variants-of-uterine-leiomyomas-fibroids]",['NCIthesaurus'],"['NCI:C40170', 'UMLS_CUI:C1519855']",['DOID:0060095']
9767,593,agoraphobia,"""A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable."" [url:http\://en.wikipedia.org/wiki/Anxiety_disorder]",['NCIthesaurus'],"['ICD10CM:F40.0', 'MESH:D000379', 'NCI:C34362', 'SNOMEDCT_US_2022_09_01:154885006', 'UMLS_CUI:C0001818']",['DOID:591']
9768,5936,ovarian mixed germ cell neoplasm,"""An ovarian primitive germ cell tumor that is characterized by the presence of two or more types of malignant, primitive, germ cell components."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25366470]",['NCIthesaurus'],"['NCI:C8114', 'UMLS_CUI:C0280135']",['DOID:5351']
9769,594,panic disorder,"""An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress."" [url:http\://www.nimh.nih.gov/health/topics/panic-disorder/index.shtml]",['NCIthesaurus'],"['EFO:0004262', 'ICD10CM:F41.0', 'MESH:D016584', 'NCI:C34890', 'OMIM:167870', 'OMIM:607853', 'OMIM:609985', 'SNOMEDCT_US_2022_09_01:191705007', 'UMLS_CUI:C0030319']",['DOID:2030']
9775,5973,kidney pelvis papillary carcinoma,"""A papillary carcinoma that is located_in the kidney pelvis."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/13056223]",['NCIthesaurus'],"['NCI:C6148', 'UMLS_CUI:C1377909']",['DOID:5974']
9781,5983,kidney osteogenic sarcoma,"""A kidney sarcoma that starts in the bones and that is located in the kidney."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1768219]",['NCIthesaurus'],"['NCI:C6181', 'UMLS_CUI:C1335747']",['DOID:4242']
9782,599,specific phobia,"""A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations."" [url:http\://en.wikipedia.org/wiki/Specific_phobia]",['NCIthesaurus'],"['ICD10CM:F40.2', 'MESH:C562465', 'NCI:C35284', 'OMIM:608251', 'SNOMEDCT_US_2022_09_01:54587008', 'UMLS_CUI:C0236801']",['DOID:591']
9784,5997,non-proliferative fibrocystic change of the breast,"""A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27483712]",['NCIthesaurus'],"['NCI:C6943', 'UMLS_CUI:C1332628']",['DOID:10354']
9785,5998,microglandular adenosis,"""A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148517/]",['NCIthesaurus'],"['MESH:D005348', 'NCI:C3484', 'SNOMEDCT_US_2022_09_01:270893004', 'UMLS_CUI:C0085750']",['DOID:3463']
9786,5999,apocrine adenosis of breast,"""A non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20123450]",['NCIthesaurus'],"['NCI:C5198', 'UMLS_CUI:C1332314']",['DOID:5997']
9787,600,animal phobia,"""A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all."" [url:http\://hubpages.com/hub/list-of-animal-phobias]",['NCIthesaurus'],"['MESH:C000719220', 'NCI:C35273', 'SNOMEDCT_US_2022_09_01:54307006', 'UMLS_CUI:C0233711']",['DOID:599']
9788,6000,congestive heart failure,"""A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body."" [url:http\://en.wikipedia.org/wiki/Heart_disease]",['NCIthesaurus'],"['ICD10CM:I50', 'ICD10CM:I50.9', 'ICD9CM:428', 'ICD9CM:428.0', 'MESH:D006333', 'NCI:C3080', 'NCI:C50577', 'SNOMEDCT_US_2022_09_01:155374007', 'SNOMEDCT_US_2022_09_01:195108009', 'UMLS_CUI:C0018801', 'UMLS_CUI:C0018802']",['DOID:114']
9798,6001,breast fibrosarcoma,"""A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern."" [url:https\://en.wikipedia.org/wiki/Fibrosarcoma]",['NCIthesaurus'],"['NCI:C5185', 'UMLS_CUI:C1332630']",['DOID:3017']
9799,6003,aleukemic leukemia cutis,"""An aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood."" [url:https\://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf?dictionary=NCI_Thesaurus&version=20.02d&code=C4983&ns=ncit&type=properties&key=null&b=1&n=0&vse=null]",['NCIthesaurus'],"['NCI:C4983', 'UMLS_CUI:C0887846']",['DOID:6004']
9800,6004,aleukemic leukemia,"""A leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood."" [url:http\://www.merriam-webster.com/medical/aleukemic%20leukemia, url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4982]",['NCIthesaurus'],"['NCI:C4982', 'SNOMEDCT_US_2022_09_01:154602005', 'UMLS_CUI:C0877858']",['DOID:1240']
9803,6017,central nervous system mature teratoma,"""A mature teratoma that is located_in the central nervous system."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21150046]",['NCIthesaurus'],"['NCI:C7013', 'UMLS_CUI:C1332886']",['DOID:3640']
9805,6019,central nervous system immature teratoma,"""A malignant teratoma that is located_in the central nervous system."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21150046]",['NCIthesaurus'],"['NCI:C7014', 'UMLS_CUI:C1332883']",['DOID:3640']
9807,6024,selective IgE deficiency disease,"""A dysgammaglobulinemia that is characterized by isolated deficiency of IgE and subsequent mildly increased susceptibility to parasitic infections and allergic or autoimmune-related diseases."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24717782, url:https\://www.ncbi.nlm.nih.gov/pubmed/28778662]",['NCIthesaurus'],"['NCI:C27143', 'SNOMEDCT_US_2022_09_01:234540007', 'UMLS_CUI:C0398694']",['DOID:11702']
9808,6025,selective immunoglobulin deficiency disease,"""A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27870, url:https\://www.ncbi.nlm.nih.gov/books/NBK507905/]",['NCIthesaurus'],"['NCI:C27870', 'UMLS_CUI:C1335942']",['DOID:2115']
9812,6034,heart malignant hemangiopericytoma,"""A heart sarcoma that is a soft tissue sarcoma located in the heart."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16434949]",['NCIthesaurus'],"['NCI:C5365', 'UMLS_CUI:C1334567']",['DOID:5262']
9813,6037,spindle cell intraocular melanoma,"""An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells."" [url:http\://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page3]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C7986', 'UMLS_CUI:C0279687']",['DOID:1752']
9814,6039,uveal melanoma,"""A uveal cancer that has_material_basis_in uvea pigment cells."" [url:http\://cancergenome.nih.gov/cancersselected/UvealMelanoma, url:http\://en.wikipedia.org/wiki/Uveal_melanoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['MESH:C536494', 'NCI:C7712', 'OMIM:155720', 'OMIM:606660', 'OMIM:606661', 'ORDO:39044', 'UMLS_CUI:C0220633']",['DOID:3479']
9815,6041,choroid spindle cell melanoma,"""A malignant choroid melanoma that is located_in the choroid."" [url:http\://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/allpages/print]",['NCIthesaurus'],"['NCI:C6099', 'UMLS_CUI:C1333027']",['DOID:6438']
9816,6043,ciliary body spindle cell melanoma,"""A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles."" [url:http\://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3968473/, url:https\://www.ncbi.nlm.nih.gov/pubmed/17545559/]",['NCIthesaurus'],"['NCI:C6117', 'UMLS_CUI:C1333052']",['DOID:4352']
9818,605,flying phobia,"""A specific phobia that is characterized by a fear of flying."" [url:http\://en.wikipedia.org/wiki/Fear_of_flying]",['NCIthesaurus'],"['ICD10CM:F40.243', 'MESH:C000719189', 'NCI:C35413', 'SNOMEDCT_US_2022_09_01:247854002', 'UMLS_CUI:C0344318']",['DOID:599']
9819,6050,esophageal disease,"""A gastrointestinal system disease that is located_in the esophagus."" [url:http\://en.wikipedia.org/wiki/Esophageal_disease]",['NCIthesaurus'],"['ICD10CM:K22.9', 'ICD9CM:530.9', 'MESH:D004935', 'NCI:C3027', 'SNOMEDCT_US_2022_09_01:266497000', 'UMLS_CUI:C0014852']",['DOID:77']
9821,6053,childhood germ cell cancer,"""A germ cell cancer that presents in childhood."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23559398]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C7928', 'UMLS_CUI:C0279014']",['DOID:2994']
9826,6067,ovarian mucinous neoplasm,"""An ovary epithelial cancer that is characterized by the presence of mucin."" [url:https\://en.wikipedia.org/wiki/Ovarian_mucinous_tumor]",['NCIthesaurus'],"['NCI:C40033', 'NCI:C5242', 'SNOMEDCT_US_2022_09_01:189683008', 'UMLS_CUI:C1335168', 'UMLS_CUI:C1518233']",['DOID:2152']
9829,6083,childhood ovarian endodermal sinus tumor,"""An ovarian endodermal sinus tumor that presents in childhood."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8649322, url:https\://www.ncbi.nlm.nih.gov/pubmed/9949591]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6551', 'UMLS_CUI:C1332993']",['DOID:5350']
9830,6084,childhood ovarian germ cell tumor,"""An ovarian germ cell cancer that presents in childhood."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24395845]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C8588', 'UMLS_CUI:C0796664']",['DOID:2156']
9838,6101,signet ring cell variant cervical mucinous adenocarcinoma,"""A cervical mucinous adenocarcinoma that is characterized by the presence of signet ring cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802128/]",['NCIthesaurus'],"['NCI:C40205', 'UMLS_CUI:C1516424']",['DOID:3701']
9839,6102,herpetic gastritis,"""A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1063088]","['DO_infectious_disease_slim', 'NCIthesaurus']","['NCI:C27341', 'UMLS_CUI:C1333996']",['DOID:2327']
9848,612,primary immunodeficiency disease,"""An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation."" [url:http\://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases]","['DO_FlyBase_slim', 'NCIthesaurus']","['ICD10CM:D84.9', 'ICD9CM:279.3', 'KEGG:05340', 'MESH:D007153', 'NCI:C39725', 'OMIM:242850', 'OMIM:PS300755', 'SNOMEDCT_US_2022_09_01:191005003', 'UMLS_CUI:C0021051']",['DOID:2914']
9849,6126,anal canal carcinoma,"""An anal canal cancer that derives_from epithelial cells."" [url:http\://en.wikipedia.org/wiki/Carcinoma, url:http\://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp]",['NCIthesaurus'],"['MESH:C563020', 'NCI:C7489', 'OMIM:105580', 'SNOMEDCT_US_2022_09_01:285310000', 'UMLS_CUI:C0563211']",['DOID:0050688']
9850,6128,gliomatosis cerebri,"""A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells."" [url:https\://en.wikipedia.org/wiki/Gliomatosis_cerebri, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5545748/]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6514', 'ICDO:9381/3', 'MESH:D018302', 'NCI:C4318', 'SNOMEDCT_US_2022_09_01:26138003', 'UMLS_CUI:C0334576']",['DOID:1319']
9851,6132,bronchitis,"""A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness."" [url:http\://www.nhlbi.nih.gov/health/dci/Diseases/brnchi/brnchi_whatis.html, url:http\://www.nlm.nih.gov/medlineplus/bronchitis.html, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchitis]",['NCIthesaurus'],"['ICD10CM:J20', 'ICD10CM:J40', 'ICD10CM:J42', 'ICD9CM:466.0', 'ICD9CM:490', 'ICD9CM:491', 'MESH:D001991', 'MESH:D029481', 'NCI:C26722', 'NCI:C26932', 'NCI:C2911', 'SNOMEDCT_US_2022_09_01:155512004', 'SNOMEDCT_US_2022_09_01:155566007', 'SNOMEDCT_US_2022_09_01:32398004', 'UMLS_CUI:C0006277', 'UMLS_CUI:C0008677', 'UMLS_CUI:C0149514']",['DOID:1176']
9852,6139,uterine corpus epithelioid leiomyosarcoma,"""A uterus leiomyosarcoma characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339182/]",['NCIthesaurus'],"['NCI:C40174', 'UMLS_CUI:C1519851']",['DOID:5289']
9856,6160,childhood choriocarcinoma of the testis,"""A choriocarcinoma of the testis that is present during childhood."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204242/]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6544', 'UMLS_CUI:C1333006']",['DOID:5551']
9858,6162,childhood embryonal testis carcinoma,"""An embryonal testis carcinoma that occurs in children."" [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6545', 'UMLS_CUI:C1333007']",['DOID:5680']
9862,6170,ovarian carcinosarcoma,"""A malignant ovarian surface epithelial-stromal neoplasm that is a mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938474/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7296', 'NCI:C9192', 'SNOMEDCT_US_2022_09_01:702368000', 'UMLS_CUI:C0392998']",['DOID:2151']
9863,6171,uterine carcinosarcoma,"""A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma."" [url:http\://cancergenome.nih.gov/cancersselected/UterineCarcinosarcoma, url:http\://en.wikipedia.org/wiki/Carcinosarcoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:12335', 'NCI:C42700', 'SNOMEDCT_US_2022_09_01:702369008', 'UMLS_CUI:C0280630']",['DOID:4114']
9865,6179,ovarian small cell carcinoma,"""An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3858994/]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:10411', 'NCI:C27390']",['DOID:4001']
9866,6190,rectum Kaposi's sarcoma,"""A sarcoma of the rectum that results_in lesions that are located_in the rectum."" [url:http\://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp]",['NCIthesaurus'],"['NCI:C5550', 'SNOMEDCT_US_2022_09_01:1156797006', 'UMLS_CUI:C1335681']",['DOID:1995']
9868,6193,epithelioid sarcoma,"""A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue."" [url:https\://en.wikipedia.org/wiki/Epithelioid_sarcoma, url:https\://www.mayoclinic.org/diseases-conditions/epithelioid-sarcoma/cdc-20392420]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:10181', 'ICDO:8804/3', 'MESH:D012509', 'NCI:C3714', 'SNOMEDCT_US_2022_09_01:782827000', 'UMLS_CUI:C0205944']",['DOID:201']
9869,6195,conjunctivitis,"""A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids."" [url:http\://en.wikipedia.org/wiki/Conjunctivitis]",['NCIthesaurus'],"['ICD10CM:H10', 'ICD9CM:372.30', 'MESH:D003231', 'NCI:C34504', 'SNOMEDCT_US_2022_09_01:193857008', 'UMLS_CUI:C0009763']",['DOID:4251']
9870,6196,reactive arthritis,"""An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body."" [url:http\://en.wikipedia.org/wiki/Reactive_arthritis, url:http\://www.about-reactive-arthritis.com/, url:http\://www.mayoclinic.com/health/reactive-arthritis/DS00486/DSECTION=causes, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000440.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5693', 'ICD10CM:M02.10', 'ICD10CM:M02.3', 'ICD9CM:099.3', 'ICD9CM:711.30', 'MESH:D016918', 'NCI:C34975', 'SNOMEDCT_US_2022_09_01:266212009', 'SNOMEDCT_US_2022_09_01:56528004', 'UMLS_CUI:C0035012', 'UMLS_CUI:C0152085']",['DOID:848']
9874,62,aortic valve disease,"""A heart valve disease that is located_in the aortic valve."" [url:https\://www.mayoclinic.org/diseases-conditions/aortic-valve-disease/symptoms-causes/syc-20355117]",['NCIthesaurus'],"['ICD9CM:424.1', 'MESH:D000082862', 'NCI:C78650', 'SNOMEDCT_US_2022_09_01:8722008', 'UMLS_CUI:C1260873']",['DOID:4079']
9880,6209,malignant mediastinum hemangiopericytoma,"""A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum."" [url:https\://pubmed.ncbi.nlm.nih.gov/7967247/]",['NCIthesaurus'],"['NCI:C6608', 'UMLS_CUI:C1334598']",['DOID:264']
9882,6211,mixed epithelial tumor of ovary,"""An ovarian benign neoplasm that is biphasic and has_material_basis_in epithelial and mesenchymal elements."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957347/]",['NCIthesaurus'],"['NCI:C4508', 'SNOMEDCT_US_2022_09_01:254855000', 'UMLS_CUI:C0346166']",['DOID:0060112']
9883,6212,ovarian endometrial cancer,"""An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary."" [url:http\://en.wikipedia.org/wiki/Endometrial_cancer]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C40051', 'NCI:C6257', 'UMLS_CUI:C1335159', 'UMLS_CUI:C1518231']",['DOID:2152']
9884,6214,ovarian papillary neoplasm,"""An ovary epithelial cancer that is characterized by the presence of finger-like projections on histology."" [url:https\://acsjournals.onlinelibrary.wiley.com/doi/pdf/10.3322/canjclin.16.4.171]",['NCIthesaurus'],"['NCI:C8430', 'SNOMEDCT_US_2022_09_01:189683008', 'UMLS_CUI:C0476121']",['DOID:2152']
9885,6217,gastric diffuse adenocarcinoma,"""A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9159]",['NCIthesaurus'],"['NCI:C4127', 'NCI:C9159', 'SNOMEDCT_US_2022_09_01:24505004', 'UMLS_CUI:C0279635', 'UMLS_CUI:C0334280']",['DOID:3717']
9886,6225,Cronkhite-Canada syndrome,"""A stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea."" [url:https\://pubmed.ncbi.nlm.nih.gov/21881972/]",['NCIthesaurus'],"['NCI:C7035', 'OMIM:175500', 'UMLS_CUI:C1333764']",['DOID:76']
9889,6229,childhood mature teratoma of the ovary,"""A mature teratoma of the ovary that presents in childhood."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30165903]",['NCIthesaurus'],"['NCI:C6548', 'UMLS_CUI:C1332991']",['DOID:6231']
9890,6230,childhood teratoma of the ovary,"""An ovarian germ cell teratoma that presents in childhood."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/682093]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6554', 'UMLS_CUI:C1332992']",['DOID:5567']
9891,6231,mature teratoma of the ovary,"""An ovarian biphasic or triphasic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm)."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20212374]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C8112', 'UMLS_CUI:C1334637']",['DOID:6232']
9892,6232,ovarian biphasic or triphasic teratoma,"""An ovarian germ cell teratoma that is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm."" [url:https\://www.tandfonline.com/doi/abs/10.1586/eog.10.80]",['NCIthesaurus'],"['NCI:C39992', 'UMLS_CUI:C1518691']",['DOID:5567']
9904,626,complement deficiency,"""A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation."" [url:http\://en.wikipedia.org/wiki/Complement_deficiency]",['NCIthesaurus'],"['ICD10CM:D84.1', 'MESH:D000081208', 'NCI:C4691', 'SNOMEDCT_US_2022_09_01:191014008', 'UMLS_CUI:C0272242']",['DOID:612']
9905,6262,follicular dendritic cell sarcoma,"""A dendritic cell sarcoma cancer that effects the follicular dendritic cells."" [url:http\://en.wikipedia.org/wiki/Follicular_dendritic_cell_sarcoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:C96.4', 'ICDO:9758/3', 'MESH:D054740', 'NCI:C9281', 'SNOMEDCT_US_2022_09_01:128816008', 'UMLS_CUI:C1260325']",['DOID:7849']
9906,6263,inflammatory breast carcinoma,"""A breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2852616/]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:D058922', 'NCI:C4001', 'SNOMEDCT_US_2022_09_01:254840009', 'UMLS_CUI:C0278601']",['DOID:3458']
9907,627,severe combined immunodeficiency,"""A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems."" [url:http\://www.merriam-webster.com/medlineplus/severe%20combined%20immunodeficiency, url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=severecombinedimmunodeficiency, url:http\://www.scid.net/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7628', 'MESH:D016511', 'NCI:C3472', 'SNOMEDCT_US_2022_09_01:190994004', 'UMLS_CUI:C0085110']",['DOID:0111962']
9913,6278,ovarian mucinous malignant adenofibroma,"""An ovarian mucinous neoplasm that is cancerous and that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23297622]",['NCIthesaurus'],['NCI:C40034'],['DOID:6067']
9914,628,combined T cell and B cell immunodeficiency,"""A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity."" [url:http\://en.wikipedia.org/wiki/Combined_immunodeficiencies, url:http\://rarediseases.info.nih.gov/gard/7628/severe-combined-immunodeficiency/resources/1, url:https\://link.springer.com/chapter/10.1007/978-3-662-52909-6_2]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:D81', 'ICD9CM:279.2', 'NCI:C27871', 'ORDO:101972', 'SNOMEDCT_US_2022_09_01:442459007', 'UMLS_CUI:C2711630']",['DOID:0111962']
9915,6284,epicardium lipoma,"""A heart lipoma that is located_in the epicardium and derives_from fat cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23438624]",['NCIthesaurus'],"['NCI:C6742', 'UMLS_CUI:C1333411']",['DOID:6285']
9919,6293,central nervous system lipoma,"""A central nervous system benign neoplasm that derives_from fat cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12597248]",['NCIthesaurus'],"['NCI:C5451', 'UMLS_CUI:C1332885']",['DOID:0060090']
9922,630,genetic disease,"""A disease that has_material_basis_in genetic variations in the human genome."" [url:http\://ghr.nlm.nih.gov/]","['DO_CFDE_slim', 'DO_RAD_slim', 'NCIthesaurus']","['MESH:D030342', 'NCI:C3101', 'SNOMEDCT_US_2022_09_01:32895009', 'UMLS_CUI:C0019247']",['DOID:4']
9924,631,fibromyalgia,"""A syndrome that is  is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression."" [url:https\://pubmed.ncbi.nlm.nih.gov/30486733/, url:https\://pubmed.ncbi.nlm.nih.gov/32120395/, url:https\://pubmed.ncbi.nlm.nih.gov/33024295/, url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7660651/]",['NCIthesaurus'],"['ICD10CM:M79.7', 'MESH:D005356', 'NCI:C87497', 'SNOMEDCT_US_2022_09_01:1304004', 'UMLS_CUI:C0016053']",['DOID:225']
9925,6312,clivus chordoma,"""A chordoma of skull base that is located in the clivus."" [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1656331/]",['NCIthesaurus'],"['NCI:C5412', 'SNOMEDCT_US_2022_09_01:446939001', 'UMLS_CUI:C1333071']",['DOID:4151']
9926,6313,clivus chondroid chordoma,"""A chondroid chordoma and chordoma of the clivus that is located_in the clivus."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263615/]",['NCIthesaurus'],"['NCI:C5426', 'UMLS_CUI:C1333072']",['DOID:6312']
9927,6314,ovarian fetiform teratoma,"""A mature teratoma of the ovary that resembles a malformed human fetus with the caudal portion being more developed."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28446797]",['NCIthesaurus'],"['NCI:C39996', 'UMLS_CUI:C1518715']",['DOID:6231']
9928,6315,ovarian solid teratoma,"""A mature teratoma of the ovary that is predominantly solid with interspersed cysts."" [url:https\://pubs.rsna.org/doi/full/10.1148/radiographics.21.2.g01mr09475, url:https\://www.ncbi.nlm.nih.gov/pubmed/27636886]",['NCIthesaurus'],"['NCI:C7285', 'UMLS_CUI:C1335181']",['DOID:6231']
9929,6316,Bartholin's gland adenocarcinoma,"""A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue."" [url:https\://en.wikipedia.org/wiki/Adenocarcinoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/7272963]",['NCIthesaurus'],"['NCI:C7719', 'UMLS_CUI:C0238016']",['DOID:3999']
9930,6322,tibial adamantinoma,"""An adamantinoma of long bone that is located_in the tibia."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30210255]",['NCIthesaurus'],"['NCI:C8461', 'SNOMEDCT_US_2022_09_01:210233007', 'UMLS_CUI:C1273017']",['DOID:2775']
9931,633,myositis,"""A myopathy characterized by muscle inflammation."" [url:http\://www.nlm.nih.gov/medlineplus/myositis.html, url:https\://en.wikipedia.org/wiki/Myositis]",['NCIthesaurus'],"['ICD10CM:M60', 'MESH:D009220', 'NCI:C27578', 'OMIM:160750', 'SNOMEDCT_US_2022_09_01:26889001', 'UMLS_CUI:C0027121']",['DOID:423']
9932,6331,immature teratoma of ovary,"""A malignant ovarian germ cell neoplasm that is a teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26142911]",['NCIthesaurus'],"['NCI:C8111', 'SNOMEDCT_US_2022_09_01:254871000', 'UMLS_CUI:C0346182']",['DOID:2155']
9938,6339,vulvar eccrine adenocarcinoma,"""A vulva adenocarcinoma that has_material_basis_in eccrine glands."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27832810]",['NCIthesaurus'],['NCI:C40305'],['DOID:2098']
9941,635,acquired immunodeficiency syndrome,"""A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS."" [url:http\://en.wikipedia.org/wiki/AIDS, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aids]","['DO_infectious_disease_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['EFO:0000765', 'ICD10CM:B20', 'MESH:D000163', 'NCI:C2851', 'SNOMEDCT_US_2022_09_01:62479008', 'UMLS_CUI:C0001175']",['DOID:526']
9942,6354,chronic lymphocytic leukemia/small lymphocytic lymphoma,"""A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes."" [url:http\://www.cancer.gov/dictionary?CdrID=641291, url:https\://lymphoma.org/aboutlymphoma/cll/]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9823/3', 'NCI:C27911', 'SNOMEDCT_US_2022_09_01:399607007', 'UMLS_CUI:C1302547']",['DOID:1040']
9943,636,central pontine myelinolysis,"""A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria."" [url:https\://en.wikipedia.org/wiki/Central_pontine_myelinolysis, url:https\://pubmed.ncbi.nlm.nih.gov/25220878/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8749', 'ICD10CM:G37.2', 'MESH:D017590', 'NCI:C84623', 'SNOMEDCT_US_2022_09_01:6807001', 'UMLS_CUI:C0206083']",['DOID:3213']
9944,6364,migraine,"""A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing."" [url:http\://en.wikipedia.org/wiki/Migraine, url:http\://www.mayoclinic.com/health/migraine-headache/DS00120]",['NCIthesaurus'],"['EFO:0003821', 'ICD10CM:G43', 'ICD9CM:346', 'MESH:D008881', 'NCI:C89715', 'OMIM:157300', 'SNOMEDCT_US_2022_09_01:155046006', 'SNOMEDCT_US_2022_09_01:193036004', 'UMLS_CUI:C0042331', 'UMLS_CUI:C0149931']",['DOID:936']
9945,6367,acral lentiginous melanoma,"""A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes."" [url:http\://en.wikipedia.org/wiki/Acral_lentiginous_melanoma, url:http\://en.wikipedia.org/wiki/Lentigo, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1352575/]","['DO_cancer_slim', 'DO_rare_slim']",['GARD:9570'],['DOID:8923']
9948,6379,diffuse meningeal melanocytosis,"""A central nervous system melanocytic neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges."" [url:https\://radiopaedia.org/articles/meningeal-melanocytosis?lang=us]","['DO_rare_slim', 'NCIthesaurus']","['ICDO:8728/0', 'NCI:C6890', 'ORDO:252031', 'SNOMEDCT_US_2022_09_01:128729004', 'UMLS_CUI:C1266112']",['DOID:4955']
9952,639,acute disseminated encephalomyelitis,"""An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection."" [url:http\://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis, url:http\://www.ninds.nih.gov/disorders/acute_encephalomyelitis/acute_encephalomyelitis.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8639', 'MESH:D004673', 'NCI:C34578', 'SNOMEDCT_US_2022_09_01:83942000', 'UMLS_CUI:C0014059']",['DOID:640']
9955,6405,ovarian papillary cystadenoma,"""An ovarian cystadenoma that is characterized by the presence of finger-like projections."" [url:https\://www.sciencedirect.com/science/article/pii/S0002961041905159]",['NCIthesaurus'],"['NCI:C7278', 'UMLS_CUI:C1335175']",['DOID:6214']
9957,6407,ovarian surface papilloma,"""An ovarian papillary neoplasm that is an exophytic growth with bland, serous-type epitheliumon the surface of the ovary."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/439088]",['NCIthesaurus'],"['NCI:C7279', 'UMLS_CUI:C1335183']",['DOID:6214']
9958,6408,ovary papillary carcinoma,"""An ovarian carcinoma that has_material_basis_in abnormally proliferating cells and derives_from epithelial cells."" [url:https\://acsjournals.onlinelibrary.wiley.com/doi/pdf/10.3322/canjclin.16.4.171, url:https\://www.ncbi.nlm.nih.gov/pubmed/7185762]",['NCIthesaurus'],"['NCI:C6256', 'UMLS_CUI:C1335178']",['DOID:4001']
9963,6428,cervical adenoid basal carcinoma,"""A cervix carcinoma that has_material_basis_in epithelium and is characterized by the presence of small,\nwell differentiated, rounded nests of basaloid cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10872669, url:https\://www.ncbi.nlm.nih.gov/pubmed/25207054]",['NCIthesaurus'],"['NCI:C40213', 'SNOMEDCT_US_2022_09_01:763063001', 'UMLS_CUI:C1516403']",['DOID:2893']
9964,643,progressive multifocal leukoencephalopathy,"""A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma."" [url:http\://www.merck.com/mmpe/sec16/ch217/ch217f.html, url:http\://www.merriam-webster.com/medical/progressive%20multifocal%20leukoencephalopathy, url:http\://www.ninds.nih.gov/disorders/pml/pml.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7468', 'ICD10CM:A81.2', 'ICD9CM:046.3', 'MESH:D007968', 'NCI:C26815', 'SNOMEDCT_US_2022_09_01:22255007', 'UMLS_CUI:C0023524']",['DOID:934']
9965,6432,pulmonary hypertension,"""A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries."" [url:https\://en.wikipedia.org/wiki/Pulmonary_hypertension, url:https\://www.ncbi.nlm.nih.gov/pubmed/19555858]",['NCIthesaurus'],"['ICD10CM:I27.20', 'MESH:D006976', 'NCI:C3120', 'SNOMEDCT_US_2022_09_01:155328008', 'UMLS_CUI:C0020542']",['DOID:10763']
9969,6448,vulvar apocrine adenocarcinoma,"""A vulva adenocarcinoma that has_material_basis_in apocrine glands."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24179652]",['NCIthesaurus'],['NCI:C40308'],['DOID:2098']
9971,6457,Cowden syndrome,"""A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium."" [url:http\://en.wikipedia.org/wiki/Cowden_syndrome, url:http\://ghr.nlm.nih.gov/condition/cowden-syndrome, url:http\://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/1]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6202', 'ICDO:9493/0', 'MESH:D006223', 'NCI:C3076', 'NCI:C8419', 'OMIM:PS158350', 'ORDO:201', 'SNOMEDCT_US_2022_09_01:58037000', 'SNOMEDCT_US_2022_09_01:67944007', 'UMLS_CUI:C0018553', 'UMLS_CUI:C0391826']",['DOID:0080191']
9972,6458,cerebellar liponeurocytoma,"""A cerebellum cancer that is characterized by consistent neuronal, variable astrocytic and focal lipomatous differentiation."" [url:https\://pubmed.ncbi.nlm.nih.gov/33964714/]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:10642', 'ICDO:9506/1', 'NCI:C6905', 'SNOMEDCT_US_2022_09_01:734134003', 'UMLS_CUI:C1370507']",['DOID:4205']
9973,6459,rectal lipoma,"""A rectal benign neoplasm that has_material_basis_in fat tissue."" [url:https\://pubmed.ncbi.nlm.nih.gov/22084744/]",['NCIthesaurus'],"['NCI:C5551', 'UMLS_CUI:C1335684']",['DOID:1984']
9974,646,viral encephalitis,"""An encephalitis that involves inflammation of the brain caused by viral infection."" [url:http\://www.ncbi.nlm.nih.gov/sites/entrez/14978145]","['DO_infectious_disease_slim', 'NCIthesaurus']","['MESH:D004671', 'NCI:C34576', 'SNOMEDCT_US_2022_09_01:68197003', 'UMLS_CUI:C0014055']",['DOID:9588']
9975,6460,large intestine lipoma,"""An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24950559]",['NCIthesaurus'],"['NCI:C5678', 'SNOMEDCT_US_2022_09_01:1196824005', 'UMLS_CUI:C1333114']",['DOID:4610']
9976,6468,mucinous cystadenofibroma,"""A cystadenofibroma that is characterized by the presence of mucin."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23297622]",['NCIthesaurus'],"['NCI:C8979', 'SNOMEDCT_US_2022_09_01:10705005', 'UMLS_CUI:C1377844']",['DOID:5482']
9977,6469,ovarian mucinous adenofibroma,"""An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1996729]",['NCIthesaurus'],"['NCI:C40040', 'UMLS_CUI:C1518723']",['DOID:0060112']
9984,6483,rete testis adenoma,"""A male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is located_in the rete testis."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10320920]",['NCIthesaurus'],"['NCI:C39956', 'UMLS_CUI:C1514910']",['DOID:0060087']
9987,649,prion disease,"""A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins."" [url:http\://en.wikipedia.org/wiki/Prion, url:http\://www.cdc.gov/ncidod/dvrd/prions/]","['DO_FlyBase_slim', 'NCIthesaurus']","['ICD10CM:A81.9', 'KEGG:05020', 'MESH:D017096', 'NCI:C128346', 'SNOMEDCT_US_2022_09_01:20484008', 'UMLS_CUI:C0162534']",['DOID:936']
9988,6491,breast capillary hemangioma,"""A breast hemangioma that is characterized by capillary-sized vessels."" [url:http\://www.pathologyoutlines.com/topic/breasthemangioma.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/26687640]",['NCIthesaurus'],"['NCI:C5210', 'UMLS_CUI:C1332619']",['DOID:476']
9989,6492,breast epithelioid hemangioma,"""A breast hemangioma that is characterized by islands and cords on hyalinized and myxoid ground substance as well as intracytoplasmic vacuoles that contain typical erythrocytes and are characterized by fusiform or round nucleated cells."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351506/]",['NCIthesaurus'],"['NCI:C5211', 'UMLS_CUI:C1332627']",['DOID:476']
9992,65,connective tissue disease,"""A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage."" [url:http\://www.niams.nih.gov/Health_Info/Scleroderma/default.asp]",['NCIthesaurus'],"['MESH:D003240', 'NCI:C26729', 'SNOMEDCT_US_2022_09_01:201432001', 'UMLS_CUI:C0009782']",['DOID:17']
9994,6501,brain stem angioblastoma,"""A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells."" [url:https\://en.wikipedia.org/wiki/Hemangioblastoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/19787293]",['NCIthesaurus'],"['NCI:C5147', 'UMLS_CUI:C1332611']",['DOID:4203']
9995,6505,vaginal spindle cell epithelioma,"""A benign vaginal carcinosarcoma that has_material_basis_in epithelial cells of the remnants of the vestibular gland and is located_in vagina."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782956/]",['NCIthesaurus'],"['NCI:C40280', 'UMLS_CUI:C1511107']",['DOID:135']
9997,6511,glandular pattern ovarian yolk sac tumor,"""An ovarian endodermal sinus tumor that is characterized by a glandular pattern on histology."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25395492]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C39988', 'UMLS_CUI:C1518747']",['DOID:5350']
9998,6512,hepatoid pattern ovarian yolk sac tumor,"""An ovarian endodermal sinus tumor that is characterized by a hepatoid pattern on histology, which involves large polyhedral cells with hyaline bodies but no bile."" [url:http\://www.pathologyoutlines.com/topic/ovarytumoryolksac.html]",['NCIthesaurus'],"['NCI:C39989', 'UMLS_CUI:C1518748']",['DOID:5350']
9999,6514,polyvesicular vitelline pattern ovarian yolk sac tumor,"""An ovarian endodermal sinus tumor that is characterized by a polyvesicular vitelline pattern, which involves vesicular structures with eccentric constrictions surrounded by a dense spindle cell stroma."" [url:http\://www.pathologyoutlines.com/topic/ovarytumoryolksac.html]",['NCIthesaurus'],"['NCI:C39987', 'UMLS_CUI:C1518749']",['DOID:5350']
10001,6518,Bartholin's gland adenomyoma,"""A Bartholin's gland benign neoplasm that has_material_basis_in gland and muscle components."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9785128]",['NCIthesaurus'],"['NCI:C40300', 'UMLS_CUI:C1511049']",['DOID:2068']
10007,6530,thymoma type B2,"""A thymoma type B that is characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC9964105/]",['NCIthesaurus'],"['NCI:C6888', 'SNOMEDCT_US_2022_09_01:128713007', 'UMLS_CUI:C1266095']",['DOID:3282']
10013,655,inherited metabolic disorder,"""A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality."" [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_metabolism, url:http\://www.ncbi.nlm.nih.gov/mesh/68008659]","['DO_MGI_slim', 'NCIthesaurus']","['MESH:D008661', 'NCI:C34816', 'SNOMEDCT_US_2022_09_01:86095007', 'UMLS_CUI:C0025521']",['DOID:0014667']
10016,6554,ovarian clear cell malignant adenofibroma,"""An ovarian cancer that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/6692303]",['NCIthesaurus'],['NCI:C40079'],['DOID:2394']
10018,656,adrenal adenoma,"""An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland."" [url:http\://en.wikipedia.org/wiki/Adrenal_adenoma]",['DO_rare_slim'],['GARD:5745'],['DOID:0060089']
10022,6567,uterine corpus myxoid leiomyosarcoma,"""A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26866354]",['NCIthesaurus'],"['NCI:C40175', 'UMLS_CUI:C1519861']",['DOID:5289']
10024,657,adenoma,"""A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures."" [url:http\://coloncancer.about.com/od/glossaries/g/Adenoma.htm, url:http\://en.wikipedia.org/wiki/Adenoma]","['DO_RAD_slim', 'NCIthesaurus']","['ICDO:8140/0', 'MESH:D000236', 'NCI:C2855', 'NCI:C4196', 'SNOMEDCT_US_2022_09_01:443416007', 'SNOMEDCT_US_2022_09_01:79041005', 'UMLS_CUI:C0001430', 'UMLS_CUI:C0334389']",['DOID:0060084']
10028,6579,chest wall bone cancer,"""A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/10451260]",['NCIthesaurus'],"['NCI:C6724', 'UMLS_CUI:C1334572']",['DOID:184']
10029,6581,breast apocrine carcinoma,"""A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders."" [url:http\://surgpathcriteria.stanford.edu/breast/apocrinecabr/, url:https\://www.ncbi.nlm.nih.gov/pubmed/23771415]",['NCIthesaurus'],"['NCI:C5141', 'UMLS_CUI:C1332316']",['DOID:3458']
10030,6585,breast oncocytic carcinoma,"""A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria."" [url:http\://surgpathcriteria.stanford.edu/breast/oncocyticcabr/printable.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/21111455]",['NCIthesaurus'],"['ICDO:8290/3', 'NCI:C40366', 'UMLS_CUI:C1518574']",['DOID:3458']
10031,6587,breast tubular carcinoma,"""A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893342/]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8211/3', 'NCI:C9135', 'UMLS_CUI:C1328544']",['DOID:3458']
10043,6612,leukocyte adhesion deficiency,"""A combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system."" [url:https\://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/, url:https\://www.ncbi.nlm.nih.gov/books/NBK539770/]",['DO_rare_slim'],"['GARD:9544', 'MESH:D018370', 'ORDO:2968', 'UMLS_CUI:C0242597']",['DOID:628']
10044,6613,vaginal villous adenoma,"""A vaginal adenoma that is a polyp that resembles colorectal villous adenoma."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/18603704]",['NCIthesaurus'],"['NCI:C40259', 'UMLS_CUI:C1519936']",['DOID:5402']
10045,6620,X-linked hyper IgM syndrome,"""A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene (300386) on chromosome Xq26."" [url:https\://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:73', 'MESH:D053306', 'NCI:C3990', 'SNOMEDCT_US_2022_09_01:82286005', 'UMLS_CUI:C0272236']",['DOID:0080544']
10046,6621,cerebral angioma,"""A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen."" [url:https\://en.wikipedia.org/wiki/Cavernous_hemangioma]",['NCIthesaurus'],"['NCI:C5433', 'UMLS_CUI:C0877388']",['DOID:5393']
10047,6627,cervical adenoma malignum,"""A cervical mucinous adenocarcinoma that is well differentiated, consisting of an endocervical glandular hyperplasia of lobular architecture resembling glands but with the characteristics of adenocarcinoma."" [url:http\://www.pathologyoutlines.com/topic/cervixadenomamalignum.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/23936961]",['NCIthesaurus'],"['NCI:C40206', 'UMLS_CUI:C1516423']",['DOID:3701']
10048,6629,nipple carcinoma,"""A breast carcinoma that is located_in the nipple."" [url:http\://www.cancer.gov/dictionary?CdrID=45963]",['NCIthesaurus'],"['NCI:C28432', 'UMLS_CUI:C1334966']",['DOID:3459']
10050,6634,adult central nervous system choriocarcinoma,"""A choriocarcinoma that is located in the central nervous system of an adult."" [url:https\://en.wikipedia.org/wiki/Choriocarcinoma]",['NCIthesaurus'],"['NCI:C5793', 'UMLS_CUI:C1370505']",['DOID:3594']
10051,6639,childhood CNS choriocarcinoma,"""A choriocarcinoma characterized by extraembryonic differentiation along trophoblastic lines and high serum and CSF levels of HCG/_-HCG, has_material_basis_in abnormally proliferating cells, derives_from germ cells."" [url:http\://www.ajnr.org/content/31/10/1994]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6206', 'UMLS_CUI:C1377604']",['DOID:3594']
10053,6641,breast juvenile papillomatosis,"""A breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years."" [url:http\://surgpathcriteria.stanford.edu/breast/juvpapillomatosis/printable.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/7074576]",['NCIthesaurus'],"['NCI:C9503', 'SNOMEDCT_US_2022_09_01:708518001', 'UMLS_CUI:C1334303']",['DOID:0060082']
10056,6652,diffuse idiopathic skeletal hyperostosis,"""A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine."" [url:http\://www.mayoclinic.com/health/diffuse-idiopathic-skeletal-hyperostosis/DS00740]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6460', 'ICD10CM:M48.1', 'ICD9CM:721.6', 'MESH:D004057', 'NCI:C84671', 'OMIM:106400', 'SNOMEDCT_US_2022_09_01:31487001', 'UMLS_CUI:C0020498']",['DOID:182']
10058,6657,breast large cell neuroendocrine carcinoma,"""A breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and necrosis and in which greater than 50% of the tumor cells are positive for neuroendocrine markers (NSE, chromogranin A, synaptophysin)."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608661/]",['NCIthesaurus'],"['NCI:C40356', 'UMLS_CUI:C1511316']",['DOID:3459']
10060,6659,cervical large cell neuroendocrine carcinoma,"""A cervix carcinoma that has_material_basis_in neuroendocrine tissue and is characerized by a diffuse, organoid, trabecular, or cord-like pattern of neoplastic cells with abundant cytoplasm, large nuclei, prominent nucleoli, and a high mitotic rate."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30642849]",['NCIthesaurus'],"['NCI:C40214', 'UMLS_CUI:C1516417']",['DOID:2893']
10061,6676,Froelich syndrome,"""A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity."" [url:https\://en.wikipedia.org/wiki/Adiposogenital_dystrophy]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6463', 'ICD10CM:E23.6', 'MESH:D007027', 'NCI:C34625', 'SNOMEDCT_US_2022_09_01:62999006', 'UMLS_CUI:C0016724']",['DOID:1931']
10062,6677,diffuse infiltrative lymphocytosis syndrome,"""A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells."" [url:http\://en.wikipedia.org/wiki/Diffuse_infiltrative_lymphocytosis_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/21295898]",['NCIthesaurus'],"['NCI:C35699', 'SNOMEDCT_US_2022_09_01:449784008', 'UMLS_CUI:C1333292']",['DOID:225']
10063,6678,tooth and nail syndrome,"""A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails."" [url:http\://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tooth%20and%20Nail%20Syndrome]",['NCIthesaurus'],"['MESH:C536736', 'NCI:C40553', 'OMIM:189500', 'SNOMEDCT_US_2022_09_01:400036004', 'UMLS_CUI:C0406735']",['DOID:225']
10064,668,myositis ossificans,"""A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles."" [url:http\://en.wikipedia.org/wiki/Myositis_ossificans, url:http\://www.merriam-webster.com/medlineplus/myositis]",['NCIthesaurus'],"['MESH:D009221', 'NCI:C3253', 'SNOMEDCT_US_2022_09_01:44551007', 'UMLS_CUI:C0027122']",['DOID:633']
10065,6680,Capgras syndrome,"""A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor."" [url:http\://en.wikipedia.org/wiki/Capgras_delusion]",['NCIthesaurus'],"['MESH:D002194', 'NCI:C34446', 'SNOMEDCT_US_2022_09_01:44906001', 'UMLS_CUI:C0006895']",['DOID:778']
10066,6682,spondylolisthesis,"""A bone structure disease that has_material_basis_in displacement located_in set of vertebrae."" [url:http\://en.wikipedia.org/wiki/Spondylolisthesis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001260.htm, url:http\://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm]",['NCIthesaurus'],"['ICD10CM:M43.1', 'MESH:D013168', 'NCI:C35033', 'OMIM:184200', 'SNOMEDCT_US_2022_09_01:157003009', 'UMLS_CUI:C0038016']",['DOID:0080010']
10067,6683,X-linked Aarskog syndrome,"""A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face."" [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001654.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4775', 'ICD10CM:Q87.19', 'MESH:C535331', 'NCI:C129720', 'OMIM:305400', 'SNOMEDCT_US_2022_09_01:205809002', 'UMLS_CUI:C0175701']",['DOID:0111824']
10068,6686,Achard syndrome,"""A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet."" [url:http\://en.wikipedia.org/wiki/Achard_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8176', 'MESH:C536012', 'NCI:C35809', 'OMIM:100700', 'UMLS_CUI:C1332135']",['DOID:225']
10070,6688,autoimmune lymphoproliferative syndrome,"""A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen."" [url:http\://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8686', 'ICD10CM:D89.82', 'ICD9CM:279.41', 'MESH:D056735', 'NCI:C37864', 'OMIM:601859', 'ORDO:3261', 'SNOMEDCT_US_2022_09_01:702444009', 'UMLS_CUI:C1328840']",['DOID:2916']
10071,6691,Aagenaes syndrome,"""A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts."" [url:http\://en.wikipedia.org/wiki/Aagenaes_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:370', 'MESH:C535330', 'NCI:C35709', 'OMIM:214900', 'ORDO:1414', 'SNOMEDCT_US_2022_09_01:28724005', 'UMLS_CUI:C0268314']",['DOID:225']
10072,6692,Barre-Lieou syndrome,"""A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers."" [url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1738935/]",['NCIthesaurus'],"['ICD10CM:M53.0', 'MESH:D055010', 'NCI:C34411', 'SNOMEDCT_US_2022_09_01:17300000', 'UMLS_CUI:C0376378']",['DOID:225']
10073,6693,testicular monophasic choriocarcinoma,"""A choriocarcinoma of the testis that is characterized by a composition of only cytotrophoblasts and absent syncytiotrophoblastic giant cells."" [url:https\://pubmed.ncbi.nlm.nih.gov/9060597/]",['NCIthesaurus'],"['NCI:C39935', 'UMLS_CUI:C1515290']",['DOID:5551']
10082,6712,anterior spinal artery syndrome,"""A syndrome that is characterized by loss of function of the anterior two-thirds of the spinal cord that results from ischemia of the anterior spinal artery."" [url:https\://en.wikipedia.org/wiki/Anterior_spinal_artery_syndrome]",['DO_rare_slim'],"['GARD:9653', 'ICD10CM:G83.82', 'MESH:D020759', 'SNOMEDCT_US_2022_09_01:282785008', 'UMLS_CUI:C0221069']",['DOID:6713']
10083,6713,cerebrovascular disease,"""An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain."" [url:http\://en.wikipedia.org/wiki/Cerebrovascular_disease, url:http\://www.ncbi.nlm.nih.gov/books/NBK378/]",['NCIthesaurus'],"['EFO:0000712', 'ICD10CM:I67.9', 'ICD9CM:437.9', 'MESH:D002561', 'NCI:C2938', 'SNOMEDCT_US_2022_09_01:266312006', 'UMLS_CUI:C0007820']",['DOID:178']
10084,672,spleen cancer,"""A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3614769/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7683', 'ICD10CM:C26.1', 'MESH:D013160', 'NCI:C3383', 'NCI:C3539', 'SNOMEDCT_US_2022_09_01:127230005', 'SNOMEDCT_US_2022_09_01:94071006', 'UMLS_CUI:C0037999', 'UMLS_CUI:C0153470']",['DOID:0060073']
10085,6721,Littre gland carcinoma,"""A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands."" [url:http\://en.wikipedia.org/wiki/Urethral_gland]",['NCIthesaurus'],"['NCI:C39865', 'UMLS_CUI:C1516285']",['DOID:3856']
10088,6726,fibrillary astrocytoma,"""A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes."" [url:http\://en.wikipedia.org/wiki/Fibrillary_astrocytoma, url:http\://www.cancer.gov/dictionary?CdrID=45602]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9420/3', 'MESH:D001254', 'NCI:C4322', 'SNOMEDCT_US_2022_09_01:71314006', 'UMLS_CUI:C0334582']",['DOID:3069']
10090,6733,intrahepatic bile duct cystadenoma,"""A bile duct cystadenoma located_in an intrahepatic bile duct."" [url:https\://pubmed.ncbi.nlm.nih.gov/19630118/]",['NCIthesaurus'],"['NCI:C96835', 'UMLS_CUI:C1334257']",['DOID:5384']
10092,674,cleft palate,"""An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate."" [url:http\://en.wikipedia.org/wiki/Cleft_lip_and_palate#Cleft_palate, url:http\://ghr.nlm.nih.gov/glossary=cleftpalate]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:Q35', 'ICD9CM:749.0', 'MESH:D002972', 'NCI:C87069', 'ORDO:99772', 'SNOMEDCT_US_2022_09_01:156940009', 'UMLS_CUI:C0008925']",['DOID:0050567']
10094,6741,bilateral breast cancer,"""A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times."" [url:http\://www.ehow.com/facts_5923640_treatments-bilateral-breast-cancer_.html]",['NCIthesaurus'],"['NCI:C8287', 'UMLS_CUI:C0281267']",['DOID:3459']
10096,6752,internal auditory canal lipoma,"""An auditory system benign neoplasm that derives_from adipose tissue and is located_in the internal auditory canal."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19813171]",['NCIthesaurus'],"['NCI:C5452', 'UMLS_CUI:C1334226']",['DOID:0080619']
10098,6758,chest wall lymphoma,"""A thoracic cancer that is located_in the chest wall."" [url:http\://en.wikipedia.org/wiki/Chest_wall]",['NCIthesaurus'],"['NCI:C4580', 'NCI:C6712', 'SNOMEDCT_US_2022_09_01:93754006', 'UMLS_CUI:C0346948', 'UMLS_CUI:C1332933']",['DOID:5093']
10099,6759,bone lymphoma,"""A bone cancer and lymphoma by site that results_in lymphoma starting in the bone."" [url:http\://lymphoma.about.com/od/nonhodgkinlymphoma/qt/bonelymphoma.htm, url:https\://orthoinfo.aaos.org/en/diseases--conditions/primary-lymphoma-of-bone]",['NCIthesaurus'],"['NCI:C6620', 'SNOMEDCT_US_2022_09_01:766935007', 'UMLS_CUI:C1332582']",['DOID:184']
10100,676,juvenile rheumatoid arthritis,"""A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint."" [url:http\://www.mayoclinic.com/health/juvenile-rheumatoid-arthritis/DS00018, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000451.htm, url:http\://www.umm.edu/ency/article/000451.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:3067', 'ICD10CM:M08.4', 'ICD9CM:714.3', 'ICD9CM:714.31', 'ICD9CM:714.32', 'ICD9CM:714.33', 'NCI:C26979', 'NCI:C61279', 'OMIM:604302', 'ORDO:92', 'SNOMEDCT_US_2022_09_01:201798003', 'SNOMEDCT_US_2022_09_01:74391003', 'SNOMEDCT_US_2022_09_01:7441009', 'SNOMEDCT_US_2022_09_01:83793004', 'UMLS_CUI:C0157916', 'UMLS_CUI:C0157917', 'UMLS_CUI:C0157918', 'UMLS_CUI:C0409667']",['DOID:7148']
10103,6774,polyembryoma of the ovary,"""An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies."" [url:https\://en.wikipedia.org/wiki/Polyembryoma]",['NCIthesaurus'],"['NCI:C39990', 'UMLS_CUI:C1514199']",['DOID:5351']
10104,6776,breast myoepithelial carcinoma,"""A breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840516/]",['NCIthesaurus'],"['NCI:C40395', 'UMLS_CUI:C1518167']",['DOID:3459']
10105,6777,villoglandular endometrial endometrioid adenocarcinoma,"""An endometrial adenocarcinoma that is characterized by papillary differentiation."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8179072]",['NCIthesaurus'],"['NCI:C27846', 'UMLS_CUI:C1336962']",['DOID:2870']
10106,678,progressive supranuclear palsy,"""A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain."" [url:http\://en.wikipedia.org/wiki/Progressive_supranuclear_palsy, url:http\://www.ninds.nih.gov/disorders/psp/psp.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7471', 'ICD10CM:G23.1', 'MESH:D013494', 'NCI:C85028', 'OMIM:601104', 'OMIM:609454', 'OMIM:610898', 'ORDO:683', 'SNOMEDCT_US_2022_09_01:192975003', 'UMLS_CUI:C0038868']",['DOID:480']
10107,6785,desmoplastic small round cell tumor,"""A sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass."" [url:https\://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor, url:https\://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/desmoplastic-small-round-cell-tumors]","['DO_cancer_slim', 'DO_rare_slim']","['GARD:6265', 'ICDO:8806/3', 'NCI:C8300']",['DOID:1115']
10108,6786,childhood botryoid rhabdomyosarcoma,"""A botryoid rhabdomyosarcoma that presents in childhood."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8088765]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C35574', 'UMLS_CUI:C1332944']",['DOID:3255']
10109,6787,childhood vagina botryoid rhabdomyosarcoma,"""A vagina botryoid rhabdomyosarcoma that presents in childhood."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27870705]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C35556', 'UMLS_CUI:C1332945']",['DOID:6788']
10110,6788,vagina botryoid rhabdomyosarcoma,"""A botryoid rhabdomyosarcoma that is located_in the vagina."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15887839]",['NCIthesaurus'],"['NCI:C40268', 'UMLS_CUI:C1511275']",['DOID:3255']
10113,680,tauopathy,"""A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain."" [url:http\://en.wikipedia.org/wiki/Tauopathy]",['DO_FlyBase_slim'],"['MESH:D024801', 'UMLS_CUI:C0949664']",['DOID:1289']
10114,6804,colon Kaposi sarcoma,"""A sarcoma of colon that is located_in the colon."" [url:http\://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp]",['NCIthesaurus'],"['NCI:C5516', 'SNOMEDCT_US_2022_09_01:1156795003', 'UMLS_CUI:C1333091']",['DOID:5260']
10116,6811,juvenile pilocytic astrocytoma,"""A pilocytic astrocytoma that occurs during adolescence."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27081]",['NCIthesaurus'],"['MESH:D001254', 'NCI:C27081', 'UMLS_CUI:C0280783']",['DOID:4851']
10117,6812,childhood pilocytic astrocytoma,"""A pilocytic astrocytoma that occurs during childhood."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4048]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C4048', 'UMLS_CUI:C1332995']",['DOID:4851']
10120,6827,pancreatic solid pseudopapillary carcinoma,"""A pancreatic carcinoma that is characterized by its papillary architecture."" [url:http\://en.wikipedia.org/wiki/Solid_pseudopapillary_tumour, url:https\://www.ncbi.nlm.nih.gov/pubmed/19268906]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C5728', 'SNOMEDCT_US_2022_09_01:782697005', 'UMLS_CUI:C1336029']",['DOID:4905']
10122,6837,rete ovarii adenoma,"""A rete ovarii benign neoplasm that derives_from glandular epithelial cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/9416702]",['NCIthesaurus'],"['NCI:C40018', 'SNOMEDCT_US_2022_09_01:703654008', 'UMLS_CUI:C1514905']",['DOID:4895']
10123,6838,rete ovarii cystadenofibroma,"""A rete ovarii benign neoplasm that is derives_from epithelial and stromal cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/21139896]",['NCIthesaurus'],"['NCI:C40020', 'UMLS_CUI:C1514906']",['DOID:4895']
10124,6839,breast intraductal proliferative lesion,"""An intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the breast. It is confined to the duct-lobular system, originates from the terminal duct-lobular unit and displays different cytological and architectural patterns of proliferation."" [url:https\://www.hindawi.com/journals/ijso/2012/501904/]",['NCIthesaurus'],"['NCI:C27942', 'UMLS_CUI:C1334631']",['DOID:3013']
10125,684,hepatocellular carcinoma,"""A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver."" [url:http\://cancergenome.nih.gov/cancersselected/LiverHepatocellularCarcinoma, url:http\://en.wikipedia.org/wiki/Hepatocellular_carcinoma, url:http\://www.omim.org/entry/114550]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['EFO:0000182', 'ICD10CM:C22.0', 'ICDO:8170/3', 'MESH:D006528', 'NCI:C3099', 'OMIM:114550', 'ORDO:88673', 'SNOMEDCT_US_2022_09_01:154469006', 'UMLS_CUI:C2239176']",['DOID:686']
10126,6841,flat ductal epithelial atypia,"""A breast intraductal proliferative lesion that is characterized by columnar cell changes with cytologic atypia."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424157/]",['NCIthesaurus'],"['NCI:C36086', 'SNOMEDCT_US_2022_09_01:860895001', 'UMLS_CUI:C1333620']",['DOID:6839']
10130,6847,adult botryoid rhabdomyosarcoma,"""A botryoid rhabdomyosarcoma that is present in an adult."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/17955586]",['NCIthesaurus'],"['NCI:C36099', 'UMLS_CUI:C1332185']",['DOID:3255']
10131,6848,adult vagina botryoid rhabdomyosarcoma,"""A vagina botryoid rhabdomyosarcoma that presents in adulthood."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2190875]",['NCIthesaurus'],"['NCI:C40267', 'UMLS_CUI:C1515893']",['DOID:6788']
10134,6857,pineal region mature teratoma,"""A mature teratoma that is located_in the pineal region."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28236067]",['NCIthesaurus'],"['NCI:C6754', 'UMLS_CUI:C1335417']",['DOID:6856']
10136,686,liver carcinoma,"""A liver cancer that has_material_basis_in epithelial cells."" [url:http\://en.wikipedia.org/wiki/Carcinoma, url:http\://en.wikipedia.org/wiki/Liver_cancer]",['NCIthesaurus'],"['NCI:C7927', 'UMLS_CUI:C0279000']",['DOID:3571']
10137,6865,oxyphilic endometrial endometrioid adenocarcinoma,"""An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells."" [url:https\://www.researchgate.net/publication/15385398_Endometrioid_Carcinoma_of_the_Ovary_and_Endometrium_Oxyphilic_Cell_Type]",['NCIthesaurus'],"['NCI:C27849', 'UMLS_CUI:C1518768']",['DOID:2870']
10144,6873,skin tag,"""A reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops_from areas of friction, or may be associated with HPV virus, or Crohn's disease."" [url:https\://en.wikipedia.org/wiki/Skin_tag]",['NCIthesaurus'],"['NCI:C3374', 'SNOMEDCT_US_2022_09_01:156440000', 'UMLS_CUI:C0037293']",['DOID:2053']
10145,688,embryonal cancer,"""A germ cell cancer that is associated with an embryo."" [url:http\://www.cancer.gov/dictionary/?CdrID=44250]",['NCIthesaurus'],"['MESH:D009373', 'NCI:C3264', 'UMLS_CUI:C0027654']",['DOID:2994']
10146,6880,small bowel fibrosarcoma,"""A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel."" [url:http\://en.wikipedia.org/wiki/Fibrosarcoma]",['NCIthesaurus'],"['NCI:C5336', 'UMLS_CUI:C1335994']",['DOID:5272']
10149,6898,ovarian seromucinous carcinoma,"""An ovarian carcinoma that is biphasic and has_material_basis_in epithelial and mesenchymal elements."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24643255]",['NCIthesaurus'],"['NCI:C40090', 'UMLS_CUI:C0279392']",['DOID:4001']
10151,6903,eye lymphoma,"""A lymphoma by site that is manifested in immune system cells called lymphocytes."" [url:http\://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_eye_cancer_74.asp]",['NCIthesaurus'],"['NCI:C35690', 'SNOMEDCT_US_2022_09_01:312939009', 'UMLS_CUI:C0730306']",['DOID:2174']
10152,6906,glomangiomatosis,"""A benign perivascular tumor that is characterized as a vascular variant of a glomus tumor."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28656356]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8711/1', 'NCI:C27496', 'SNOMEDCT_US_2022_09_01:703603008', 'UMLS_CUI:C1333824']",['DOID:5238']
10163,6938,childhood intraocular retinoblastoma,"""An intraocular retinoblastoma that effects children."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/29737052]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C9047', 'UMLS_CUI:C1321869']",['DOID:4653']
10164,6939,childhood brain meningioma,"""A brain meningioma of childhood that is characterized by brain tumor which develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin."" [url:https\://en.wikipedia.org/wiki/Meningioma, url:https\://www.ncbi.nlm.nih.gov/pubmed/15886506]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6253', 'UMLS_CUI:C1332949']",['DOID:0060106']
10165,6943,vulvar inverted follicular keratosis,"""An inverted follicular keratosis that is located_in the vulva."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11109167]",['NCIthesaurus'],"['NCI:C40291', 'UMLS_CUI:C1520084']","['DOID:6944', 'DOID:6945']"
10169,6948,malignant gastric teratoma,"""A malignant teratoma that has_material_basis_in gastric tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2067992]",['NCIthesaurus'],"['NCI:C5256', 'UMLS_CUI:C1334151']",['DOID:4716']
10172,6958,aleukemic monocytic leukemia cutis,"""An aleukemic leukemia cutis that is characterized by infiltration of the skin by neoplastic monocytes."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C5630]",['NCIthesaurus'],"['NCI:C5630', 'UMLS_CUI:C1332232']",['DOID:6003']
10174,6961,Bartholin's gland squamous cell carcinoma,"""A Bartholin's gland carcinoma that derives_from squamous epithelial cells."" [url:https\://en.wikipedia.org/wiki/Bartholin_gland_carcinoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/22369423]",['NCIthesaurus'],"['NCI:C40293', 'UMLS_CUI:C1511052']",['DOID:3999']
10182,699,mitochondrial myopathy,"""A myopathy that is characterized by mitochondrial dysfunction."" [url:http\://en.wikipedia.org/wiki/Mitochondrial_myopathies, url:http\://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm]","['DO_FlyBase_slim', 'NCIthesaurus']","['MESH:D017240', 'NCI:C101328', 'OMIM:251900', 'SNOMEDCT_US_2022_09_01:240096000', 'UMLS_CUI:C0162670']",['DOID:423']
10190,700,mitochondrial metabolism disease,"""An inherited metabolic disorder that involves mitochondrial metabolism dysfunction."" [url:http\://en.wikipedia.org/wiki/Mitochondrial_disease]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:7048', 'MESH:D028361', 'SNOMEDCT_US_2022_09_01:240096000', 'UMLS_CUI:C0751651']",['DOID:655']
10191,7004,ACTH-secreting pituitary adenoma,"""A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome."" [url:http\://en.wikipedia.org/wiki/Cushing%27s_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:12867', 'MESH:D049913', 'NCI:C7462', 'OMIM:219090', 'SNOMEDCT_US_2022_09_01:254958004', 'UMLS_CUI:C1306214']",['DOID:5395']
10195,701,dentin dysplasia,"""A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology."" [url:http\://en.wikipedia.org/wiki/Dentin_dysplasia]",['DO_rare_slim'],"['ICD10CM:K00.5', 'MESH:D003805', 'OMIM:125400', 'OMIM:125420', 'ORDO:1635', 'SNOMEDCT_US_2022_09_01:109492001', 'UMLS_CUI:C0011430']",['DOID:214']
10196,7013,ovarian mucinous cystadenofibroma,"""An ovarian mucinous adenofibroma that is characterized by the presence of cysts or cystic spaces."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24772358]",['NCIthesaurus'],"['NCI:C40041', 'UMLS_CUI:C1518725']",['DOID:6469']
10198,7016,tendon sheath lipoma,"""A synovium neoplasm that is located_in the tendon sheath."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/26665243]",['NCIthesaurus'],"['NCI:C6499', 'UMLS_CUI:C1336703']",['DOID:315']
10202,7031,glottis squamous cell carcinoma,"""A squamous cell carcinoma that is located_in the glottis."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24760498]",['NCIthesaurus'],"['NCI:C8186', 'UMLS_CUI:C0280325']",['DOID:2599']
10203,7032,bile duct clear cell adenocarcinoma,"""A clear cell adenocarcinoma that is located_in the bile duct."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19144165]",['NCIthesaurus'],"['NCI:C5775', 'UMLS_CUI:C0861855']",['DOID:4896']
10204,7033,anisakiasis,"""A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung."" [url:http\://www.dpd.cdc.gov/DPDx/HTML/Anisakiasis.htm, url:http\://www.merck.com/mmpe/sec14/ch182/ch182c.html?qt=Anisakiasis&alt=sh, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC358121/pdf/cmr00053-0060.pdf]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:693', 'ICD10CM:B81.0', 'ICD9CM:127.1', 'MESH:D017129', 'NCI:C128393', 'SNOMEDCT_US_2022_09_01:442652006', 'UMLS_CUI:C0162576']",['DOID:883']
10205,7037,childhood immature teratoma of ovary,"""An immature teratoma of overy that presents in childhood."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/3983017]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6547', 'UMLS_CUI:C1332990']",['DOID:6331']
10211,7046,cervical basaloid squamous cell carcinoma,"""A cervical squamous cell carcinoma that is characterized by nests of immature, basal-type squamous cells with scanty cytoplasm."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/30695899, url:https\://www.ncbi.nlm.nih.gov/pubmed/31393622]",['NCIthesaurus'],"['NCI:C40189', 'UMLS_CUI:C1511063']",['DOID:3744']
10213,7048,vulvar basaloid squamous cell carcinoma,"""A vulva squamous cell carcinoma that is composed of nests of immature, basal-type squamous cells with scanty cytoplasm."" [url:https\://www.hindawi.com/journals/jsc/2011/951250/]",['NCIthesaurus'],['NCI:C40286'],['DOID:2101']
10220,707,B-cell lymphoma,"""A non-Hodgkin lymphoma that has_material_basis_in B cells."" [url:http\://en.wikipedia.org/wiki/B-cell_lymphoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:5877', 'MESH:D016393', 'NCI:C3457', 'SNOMEDCT_US_2022_09_01:109979007', 'UMLS_CUI:C0079731']",['DOID:0060060']
10221,7071,spinal cord dermoid cyst,"""A dermoid cyst that is located_in the spinal cord."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23772254]",['NCIthesaurus'],"['NCI:C6808', 'SNOMEDCT_US_2022_09_01:830015009', 'UMLS_CUI:C1333278']",['DOID:2658']
10222,7076,breast lipid-rich carcinoma,"""A lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40365]",['NCIthesaurus'],"['ICDO:8314/3', 'NCI:C40365', 'UMLS_CUI:C1517894']",['DOID:5658']
10224,7079,adult cystic teratoma,"""A cystic teratoma that is present in an adult."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27038684]",['NCIthesaurus'],"['NCI:C9012', 'SNOMEDCT_US_2022_09_01:42717009', 'UMLS_CUI:C1368888']",['DOID:2660']
10232,710,splenic manifestation of leukemia,"""A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1492871/]",['NCIthesaurus'],"['NCI:C7296', 'UMLS_CUI:C1336065']",['DOID:672']
10235,711,refractory hairy cell leukemia,"""A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment."" [url:http\://en.wikipedia.org/wiki/Hairy_cell_leukemia, url:http\://www.medterms.com/script/main/art.asp?articlekey=5274]",['NCIthesaurus'],"['ICD10CM:C91.42', 'NCI:C142882', 'UMLS_CUI:C0279780']","['DOID:285', 'DOID:712']"
10236,712,refractory hematologic cancer,"""A hematologic cancer that is located in the blood or bone marrow that doesn't respond to treatment."" [url:http\://www.cancer.gov/dictionary/?CdrID=45708, url:http\://www.cancer.gov/templates/db_alpha.aspx?CdrID=45863]",['NCIthesaurus'],"['NCI:C27357', 'UMLS_CUI:C1335724']",['DOID:2531']
10243,7138,cystitis cystica,"""A cysititis that is characterized by hyperplasia of bladder submucosa and cyst formation caused by chronic irritation of the bladder."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28466074, url:https\://www.ncbi.nlm.nih.gov/pubmed/29552345]",['NCIthesaurus'],"['ICD9CM:595.81', 'NCI:C96230', 'SNOMEDCT_US_2022_09_01:13285005', 'UMLS_CUI:C0152262']",['DOID:1679']
10244,7139,endometrial small cell carcinoma,"""An small cell carcinoma that has_material_basis_in small cells and located_in the endometrium."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24615329]",['NCIthesaurus'],"['NCI:C40155', 'UMLS_CUI:C1516858']",['DOID:1380']
10245,7140,Bartholin's gland small cell carcinoma,"""A small cell carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells and located_in Bartholin's gland."" [url:https\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C40298', 'UMLS_CUI:C1511051']",['DOID:3999']
10249,7146,Langerhans cell sarcoma,"""A histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones."" [url:http\://en.wikipedia.org/wiki/Langerhans_cell_sarcoma, url:https\://pubmed.ncbi.nlm.nih.gov/25805533/]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:10491', 'ICD10CM:C96.4', 'ICDO:9756/3', 'MESH:D054752', 'NCI:C6921', 'ORDO:86897', 'SNOMEDCT_US_2022_09_01:724649000', 'UMLS_CUI:C1260327']",['DOID:5621']
10250,7147,ankylosing spondylitis,"""A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage."" [url:http\://en.wikipedia.org/wiki/Ankylosing_spondylitis, url:http\://www.mayoclinic.com/health/ankylosing-spondylitis/DS00483, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000420.htm, url:http\://www.spondylitis.org/about/as.aspx]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0003898', 'GARD:9518', 'ICD10CM:M45', 'ICD9CM:720.0', 'MESH:D013167', 'NCI:C84564', 'OMIM:PS106300', 'ORDO:825', 'SNOMEDCT_US_2022_09_01:156619005', 'UMLS_CUI:C0038013']",['DOID:3342']
10251,7148,rheumatoid arthritis,"""An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint."" [url:http\://en.wikipedia.org/wiki/Rheumatoid_arthritis, url:http\://www.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/home/ovc-20197388, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000431.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rheumatoid%20arthritis]",['NCIthesaurus'],"['EFO:0000685', 'ICD10CM:M06.9', 'ICD9CM:714.0', 'KEGG:05323', 'MESH:D001172', 'NCI:C2884', 'OMIM:180300', 'SNOMEDCT_US_2022_09_01:156471009', 'UMLS_CUI:C0003873']",['DOID:848']
10252,7152,prostate stromal sarcoma,"""A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate."" [url:http\://www.pathologyoutlines.com/topic/prostatestromalsarcoma.html]",['NCIthesaurus'],"['NCI:C5524', 'UMLS_CUI:C1335521']",['DOID:4054']
10253,7154,anaplastic oligodendroglioma,"""An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity)."" [url:https\://en.wikipedia.org/wiki/Anaplastic_oligodendroglioma, url:https\://my.clevelandclinic.org/health/diseases/21191-oligodendroglioma, url:https\://www.cancer.gov/rare-brain-spine-tumor/tumors/oligodendroglioma]",['DO_cancer_slim'],['NCI:C4326'],['DOID:3181']
10254,7160,rectal leiomyoma,"""A rectal benign neoplasm that has_material_basis_in smooth muscle tissue."" [url:https\://pubmed.ncbi.nlm.nih.gov/29657702]",['NCIthesaurus'],"['NCI:C5552', 'UMLS_CUI:C1335682']",['DOID:1984']
10262,7177,anal canal squamous cell carcinoma,"""An anal canal cancer that derives_from epithelial squamous cells."" [url:http\://en.wikipedia.org/wiki/Squamous-cell_carcinoma]",['NCIthesaurus'],"['NCI:C7469', 'UMLS_CUI:C1332262']",['DOID:0050688']
10264,718,autoimmune hemolytic anemia,"""An autoimmune disease of blood that is characterized by deficient red blood cells caused by auto-antibodies."" [url:http\://en.wikipedia.org/wiki/Autoimmune_hemolytic_anemia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5870', 'ICD9CM:283.0', 'MESH:D000744', 'NCI:C34378', 'OMIM:205700', 'SNOMEDCT_US_2022_09_01:25121006', 'UMLS_CUI:C0002880']",['DOID:583']
10267,7188,autoimmune thyroiditis,"""An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues."" [url:https\://en.wikipedia.org/wiki/Autoimmune_thyroiditis]",['NCIthesaurus'],"['ICD10CM:E06.3', 'MESH:D013967', 'NCI:C38766', 'SNOMEDCT_US_2022_09_01:190297000', 'UMLS_CUI:C0920350']",['DOID:0060005']
10268,7191,ovarian endometrioid cystadenoma,"""An ovarian cystadenoma that is characterized by the presence of endometrial tissue."" [url:https\://pubmed.ncbi.nlm.nih.gov/30725635/]",['NCIthesaurus'],"['NCI:C40075', 'UMLS_CUI:C1518713']",['DOID:3269']
10272,7202,intermediate malignant teratoma,"""A malignant teratoma characterized by the presence of an intermediate amount of undifferentiated tissues."" [url:http\://codes.iarc.fr/code/3630]",['NCIthesaurus'],"['NCI:C4288', 'SNOMEDCT_US_2022_09_01:21912003', 'UMLS_CUI:C0334522']",['DOID:5563']
10280,7221,gallbladder papillary carcinoma,"""A papillary carcioma that is located_in the gallbladder."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15974814]",['NCIthesaurus'],"['NCI:C5743', 'UMLS_CUI:C5399921']",['DOID:3121']
10282,7223,breast giant fibroadenoma,"""A breast fibroadenoma that is larger than 5 cm."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596698/]",['NCIthesaurus'],"['NCI:C4273', 'SNOMEDCT_US_2022_09_01:254846003', 'UMLS_CUI:C0346157']",['DOID:1618']
10285,7231,childhood CNS embryonal cell carcinoma,"""A central nervous system childhood germ cell tumor characterized by germ cell tumor that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells."" [url:https\://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq, url:https\://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6208', 'UMLS_CUI:C1377605']",['DOID:6052']
10287,7233,adult central nervous system embryonal carcinoma,"""A central nervous system adult germ cell tumor that develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells."" [url:https\://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq, url:https\://www.ncbi.nlm.nih.gov/pubmed/17997317]",['NCIthesaurus'],"['NCI:C5790', 'UMLS_CUI:C1370503']",['DOID:5349']
10288,7234,mucinous cystadenocarcinoma of pancreas,"""A pancreatic cystadenocarinoma that is characterized by histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK448105/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959310/]",['NCIthesaurus'],"['NCI:C5713', 'SNOMEDCT_US_2022_09_01:785879009', 'UMLS_CUI:C2063873']",['DOID:4073']
10293,7241,uterine corpus apoplectic leiomyoma,"""An uterine corpus cellular leiomyoma that is characterized by stellate zones of recent hemorrhage within nodules of hypercellular smooth muscle."" [url:http\://www.pathologyoutlines.com/topic/uterusleiomyomavariants.html]",['NCIthesaurus'],"['NCI:C40165', 'UMLS_CUI:C1519852']",['DOID:7242']
10294,7242,uterine corpus cellular leiomyoma,"""An uterine benign neoplasm that derives_from smooth muscle cells and that is located_in the uterine corpus."" [url:http\://www.pathologyoutlines.com/topic/uterusleiomyomacellular.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/25490906]",['NCIthesaurus'],"['NCI:C40163', 'UMLS_CUI:C1519845']",['DOID:0060095']
10297,7263,selective IgD deficiency disease,"""A selective immunoglobulin deficiency disease that is characterized by low serum levels of IgD immunoglobulins, but is associated with few clinical symptoms."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27144]",['NCIthesaurus'],"['NCI:C27144', 'SNOMEDCT_US_2022_09_01:234541006', 'UMLS_CUI:C0398695']",['DOID:6025']
10306,7289,"endometrial endometrioid adenocarcinoma, secretory variant","""An endometrial adenocarcinoma that is characterized by the presence of confluent, cribriform or villoglandular voluminous glands with glycogen, subnuclear vacuoles (resembles day 17 - 22 endometrium), plus late secretory pattern in uninvolved endometrium."" [url:http\://www.pathologyoutlines.com/topic/uterussecretory.html]",['NCIthesaurus'],"['NCI:C27839', 'SNOMEDCT_US_2022_09_01:128680006', 'UMLS_CUI:C1266057']",['DOID:2870']
10307,7293,mucin-rich endometrial endometrioid adenocarcinoma,"""An endometrial adenocarcinoma that is characterized by the presence of abundant mucin."" [url:https\://pubmed.ncbi.nlm.nih.gov/28421274/]",['NCIthesaurus'],"['NCI:C8717', 'UMLS_CUI:C1513711']",['DOID:2870']
10311,7305,astroblastoma,"""A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly."" [url:https\://www.futuremedicine.com/doi/full/10.2217/cns-2018-0012, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910607/]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:10635', 'ICDO:9430/3', 'MESH:D018302', 'NCI:C4324', 'SNOMEDCT_US_2022_09_01:48952003', 'UMLS_CUI:C0334587']",['DOID:3069']
10312,731,urinary system benign neoplasm,"""An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra."" [url:http\://en.wikipedia.org/wiki/Urinary_system]",['NCIthesaurus'],"['MESH:D014571', 'NCI:C3431', 'SNOMEDCT_US_2022_09_01:254913005', 'UMLS_CUI:C0042076']",['DOID:0060085']
10316,732,urethral disease,"""A urinary system disease that is located_in the urethra."" [url:http\://www.nlm.nih.gov/medlineplus/urethraldisorders.html]",['NCIthesaurus'],"['ICD10CM:N36.9', 'MESH:D014522', 'NCI:C26903', 'SNOMEDCT_US_2022_09_01:4985009', 'UMLS_CUI:C0041969']",['DOID:18']
10317,7320,ovarian serous cystadenofibroma,"""An ovarian serous adenofibroma that is characterized by the presence of cysts or cystic spaces."" [url:https\://en.wikipedia.org/wiki/Ovarian_serous_cystadenoma]",['NCIthesaurus'],"['NCI:C40032', 'UMLS_CUI:C0877572']",['DOID:5474']
10320,7328,iris spindle cell melanoma,"""A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris."" [url:http\://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5]",['NCIthesaurus'],"['NCI:C6098', 'UMLS_CUI:C1334287']",['DOID:6994']
10321,7332,esophageal tuberculosis,"""A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss."" [url:http\://www.springerlink.com/content/53763553187824h3/fulltext.pdf]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD9CM:017.8', 'SNOMEDCT_US_2022_09_01:15284007', 'UMLS_CUI:C0152902']",['DOID:404']
10324,734,urethra cancer,"""An urinary tract cancer that derives_from the tissues of the urethra."" [url:http\://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9390', 'ICD10CM:C68.0', 'ICD9CM:189.3', 'MESH:D014523', 'NCI:C7507', 'NCI:C9106', 'SNOMEDCT_US_2022_09_01:363459007', 'SNOMEDCT_US_2022_09_01:94123008', 'UMLS_CUI:C0153620', 'UMLS_CUI:C0700101']",['DOID:3996']
10325,7340,childhood ovarian dysgerminoma,"""A childhood ovarian germ cell tumor that derives_from cells that give rise to egg cells."" [url:http\://en.wikipedia.org/wiki/Dysgerminoma, url:http\://www.cancer.gov/dictionary?CdrID=672835]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6550', 'UMLS_CUI:C1332988']",['DOID:6084']
10326,7347,ovarian stromal hyperthecosis,"""An ovarian disease that is characterized by the presence of nests of luteinized theca cells scattered throughout the ovary, which results in severe hyperandrogenism and insulin resistance. Clinical symptoms involve slowly progressive acne, hirsutism, virilization."" [url:https\://en.wikipedia.org/wiki/Hyperthecosis]",['NCIthesaurus'],"['NCI:C40446', 'UMLS_CUI:C1518743']",['DOID:1100']
10331,7363,vulvar keratinizing squamous cell carcinoma,"""A vulva squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16032717]",['NCIthesaurus'],['NCI:C40284'],['DOID:2101']
10333,7371,superficial urinary bladder cancer,"""A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area."" [url:http\://www.malecare.com/new_page_91.htm]",['NCIthesaurus'],"['MESH:D000093284', 'NCI:C27474', 'SNOMEDCT_US_2022_09_01:425231005', 'UMLS_CUI:C1336527']",['DOID:4007']
10335,7379,adrenal medulla carcinoma,"""An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells."" [url:http\://en.wikipedia.org/wiki/Carcinoma]",['NCIthesaurus'],"['NCI:C9276', 'UMLS_CUI:C1334717']",['DOID:5719']
10339,7388,pulmonary vein leiomyosarcoma,"""A leiomyosarcoma that is located_in the pulmonary vein."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11107057]",['NCIthesaurus'],"['NCI:C5374', 'UMLS_CUI:C1335575']",['DOID:175']
10340,7389,pulmonary artery leiomyosarcoma,"""A leiomyosarcoma that is located_in the pulmonary artery."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22214627]",['NCIthesaurus'],"['NCI:C5373', 'UMLS_CUI:C1335572']",['DOID:175']
10341,7390,superior vena cava leiomyosarcoma,"""A leiomyosarcoma that is located_in the superior vena cava."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC2733032/]",['NCIthesaurus'],"['NCI:C6745', 'UMLS_CUI:C1336531']",['DOID:1967']
10343,74,hematopoietic system disease,"""A disease of anatomical entity that has_material_basis_in hematopoietic cells."" [url:http\://en.wikipedia.org/wiki/Hematopathology, url:https\://www.ncbi.nlm.nih.gov/books/NBK1741/]","['DO_AGR_slim', 'DO_CFDE_slim', 'DO_GXD_slim', 'DO_MGI_slim', 'NCIthesaurus']","['ICD10CM:D75.9', 'ICD9CM:289.9', 'MESH:D006402', 'NCI:C26323', 'SNOMEDCT_US_2022_09_01:154785002', 'UMLS_CUI:C0018939']",['DOID:7']
10344,7400,Nijmegen breakage syndrome,"""A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/3277755, url:https\://www.ncbi.nlm.nih.gov/pubmed/9042920]","['DO_rare_slim', 'NCIthesaurus']","['GARD:3904', 'MESH:D049932', 'NCI:C4692', 'OMIM:251260', 'ORDO:647', 'SNOMEDCT_US_2022_09_01:234638009', 'UMLS_CUI:C0398791']",['DOID:225']
10347,7408,vulvar keratoacanthoma,"""A vulva squamous cell carcinoma that is rapidly growing, self-limited, and characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C40288, url:https\://www.ncbi.nlm.nih.gov/pubmed/24719870]",['NCIthesaurus'],"['NCI:C128167', 'UMLS_CUI:C4288007']",['DOID:2101']
10348,7409,vulvar non-keratinizing squamous cell carcinoma,"""A vulva squamous cell carcinoma that is composed of polygonal squamous cells growing in sheets or nests that may have intercellular bridges, but keratin pearls are not present."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374790/]",['NCIthesaurus'],"['NCI:C40285', 'UMLS_CUI:C1520092']",['DOID:2101']
10349,7411,ovarian endometrioid cystadenofibroma,"""An ovarian endometrioid adenofibroma that is characterized by the presence of cysts and/ or cystic spaces."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/514560]",['NCIthesaurus'],"['NCI:C27288', 'UMLS_CUI:C1335158']",['DOID:5480']
10350,7426,cutaneous anthrax,"""An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center."" [url:https\://en.wikipedia.org/wiki/Anthrax#Skin]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-positive_bacterial_infectious_disease', 'zoonotic_infectious_disease']","['GARD:8158', 'ICD10CM:A22.0', 'ICD9CM:022.0', 'MESH:C531621', 'SNOMEDCT_US_2022_09_01:84980006', 'UMLS_CUI:C0003177']",['DOID:7427']
10351,7427,anthrax disease,"""A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath."" [url:https\://en.wikipedia.org/wiki/Anthrax, url:https\://medlineplus.gov/ency/article/001325.htm, url:https\://www.cdc.gov/anthrax/basics/index.html, url:https\://wwwnc.cdc.gov/travel/yellowbook/2020/travel-related-infectious-diseases/anthrax]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:8157', 'ICD10CM:A22', 'ICD9CM:022', 'MESH:D000881', 'NCI:C84565', 'SNOMEDCT_US_2022_09_01:154295005', 'UMLS_CUI:C0003175']",['DOID:0050338']
10353,7429,childhood brain germinoma,"""A brain germinoma that is characterized by tumor of the germ cell in childhood that has_material_basis_in abnormally proliferating cells derives_from germ cells, located_in pineal area and located_in suprasellar area."" [url:https\://en.wikipedia.org/wiki/Germinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6207', 'UMLS_CUI:C1332948']",['DOID:2127']
10354,743,dermatographia,"""A physical urticaria induced by stroking of the skin."" [url:http\://en.wikipedia.org/wiki/Dermatographic_urticaria, url:http\://www.dermnetnz.org/reactions/urticaria.html]",['NCIthesaurus'],"['ICD10CM:L50.3', 'ICD9CM:708.3', 'NCI:C111885', 'OMIM:125635', 'SNOMEDCT_US_2022_09_01:201263000', 'UMLS_CUI:C0343065']",['DOID:0060220']
10355,7430,childhood germ cell brain tumor,"""A central nervous system childhood germ cell tumor that is characterized by germ cell tumor, that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells."" [url:https\://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C5795', 'UMLS_CUI:C1377598']",['DOID:6052']
10357,7436,sarcomatoid uterine corpus endometrioid adenocarcinoma,"""An endometrial adenocarcinoma that has_material_basis_in mesenchymal elements."" [url:https\://en.wikipedia.org/wiki/Sarcomatoid_carcinoma]",['NCIthesaurus'],"['NCI:C27850', 'UMLS_CUI:C1336913']",['DOID:2870']
10358,7437,uterus perivascular epithelioid cell tumor,"""A perivascular epithelioid cell tumor that is located_in the uterus."" [url:http\://www.pathologyoutlines.com/topic/uterusPEComa.html, url:https\://en.wikipedia.org/wiki/Perivascular_epithelioid_cell_tumour, url:https\://www.ncbi.nlm.nih.gov/pubmed/24698426]",['NCIthesaurus'],"['NCI:C40180', 'UMLS_CUI:C1519862']",['DOID:9460']
10359,7438,ovarian clear cell cystadenocarcinoma,"""An ovarian cystadenocarcinoma that is characterized by the presence of cells with clear cytoplasm."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22747504]",['NCIthesaurus'],"['NCI:C7980', 'UMLS_CUI:C0279667']",['DOID:3605']
10362,7442,monoclonal gammopathy of uncertain significance,"""A blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood."" [url:https\://rarediseases.info.nih.gov/diseases/7034/monoclonal-gammopathy-of-undetermined-significance, url:https\://www.mayoclinic.org/diseases-conditions/mgus/symptoms-causes/syc-20352362]",['DO_rare_slim'],['GARD:7034'],['DOID:620']
10363,745,epididymis adenomatoid tumor,"""A male reproductive organ benign neoplasm that is located_in the epididymis."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19893140]",['NCIthesaurus'],"['NCI:C6382', 'SNOMEDCT_US_2022_09_01:449052009', 'UMLS_CUI:C1333415']",['DOID:0060087']
10364,7457,enterobiasis,"""A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching."" [url:http\://www.dpd.cdc.gov/DPDx/HTML/Enterobiasis.htm, url:http\://www.merck.com/mmpe/sec14/ch182/ch182h.html?qt=enterobiasis&alt=sh]",['DO_infectious_disease_slim'],"['ICD10CM:B80', 'MESH:D010123', 'SNOMEDCT_US_2022_09_01:154415009', 'UMLS_CUI:C0030100']",['DOID:883']
10365,7459,acantholytic variant squamous cell breast carcinoma,"""A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3223956/]",['NCIthesaurus'],"['NCI:C40359', 'UMLS_CUI:C1519485']",['DOID:5514']
10367,7460,spindle cell variant squamous cell breast carcinoma,"""A breast squamous cell carcinoma that is characterized by the presence of spindle-shaped malignant cells and arises from the breast parenchyma."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25822766]",['NCIthesaurus'],"['NCI:C40358', 'UMLS_CUI:C1519487']",['DOID:5514']
10368,7461,large cell keratinizing variant squamous cell breast carcinoma,"""A breast squamous cell carcinoma characterized by large epithelial cells that contain keratin."" [url:https\://ncim.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI%20Metathesaurus&code=C1519486]",['NCIthesaurus'],"['NCI:C40357', 'UMLS_CUI:C1519486']",['DOID:5514']
10370,7465,chronic NK-cell lymphocytosis,"""A hypersensitivity reaction type IV disease that is characterized by absolute lymphocytosis of natural killer (CD3- CD16+) cells often with concurrent cytopenia and has_symptom fever, arthralgia, apthous ulcers, vasculitic skin rash, and peripheral neuropathy."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8624463]",['NCIthesaurus'],"['NCI:C39591', 'SNOMEDCT_US_2022_09_01:722955006', 'UMLS_CUI:C1512709']",['DOID:2916']
10371,7474,malignant pleural mesothelioma,"""A pleural cancer that has_material_basis_in mesothelium cells."" [url:http\://en.wikipedia.org/wiki/Mesothelioma]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:C45.0', 'MESH:D000086002', 'NCI:C7376', 'SNOMEDCT_US_2022_09_01:254645002', 'UMLS_CUI:C0812413']",['DOID:5158']
10372,7475,diverticulitis,"""An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall."" [url:https\://en.wikipedia.org/wiki/Diverticulitis]",['NCIthesaurus'],"['MESH:D004238', 'NCI:C26752', 'SNOMEDCT_US_2022_09_01:155779000', 'UMLS_CUI:C0012813']",['DOID:5295']
10376,7483,cervical keratinizing squamous cell carcinoma,"""A cervical squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11688467, url:https\://www.ncbi.nlm.nih.gov/pubmed/31651557]",['NCIthesaurus'],"['NCI:C40187', 'UMLS_CUI:C1517658']",['DOID:3744']
10377,7488,posterior urethra cancer,"""A female urethral cancer located_in the posterior urethra."" [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/posterior-urethral-cancer]",['NCIthesaurus'],"['NCI:C7640', 'UMLS_CUI:C0279931']",['DOID:738']
10378,7489,Osgood-Schlatter's disease,"""A bone inflammation disease that involves rupture of the growth plate in children located_in tibia."" [url:http\://en.wikipedia.org/wiki/Osgood%E2%80%93Schlatter_disease, url:http\://www.mayoclinic.com/health/osgood-schlatter-disease/DS00392, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001258.htm]",['NCIthesaurus'],"['ICD10CM:M92.52', 'MESH:D055034', 'NCI:C34874', 'SNOMEDCT_US_2022_09_01:72047008', 'UMLS_CUI:C0029376']",['DOID:3342']
10382,7497,brain ependymoma,"""A brain glioma that is characterized by tumor of the ependyma, has_material_basis_in abnormally proliferating cells derives_from ependymal cells, located_in spine in adults and located_in intracranial (4th ventricle) in children."" [url:https\://en.wikipedia.org/wiki/Ependyma, url:https\://en.wikipedia.org/wiki/Ependymoma]",['NCIthesaurus'],"['NCI:C3861', 'SNOMEDCT_US_2022_09_01:254939008', 'UMLS_CUI:C0238029']",['DOID:0060108']
10383,75,lymphatic system disease,"""An immune system disease that is located_in the lymphatic system."" [url:http\://en.wikipedia.org/wiki/Lymphatic_disease, url:http\://www.nlm.nih.gov/medlineplus/lymphaticdiseases.html]",['DO_RAD_slim'],"['MESH:D008206', 'SNOMEDCT_US_2022_09_01:266326002', 'UMLS_CUI:C0024228']",['DOID:2914']
10387,7503,extrahepatic bile duct papillary adenoma,"""An extrahepatic bile duct adenoma that is located_in the extrahepatic bile duct."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20690568]",['NCIthesaurus'],"['NCI:C5849', 'UMLS_CUI:C1333510']",['DOID:5438']
10390,7511,breast intraductal papillomatosis,"""A benign breast neoplasm characterized by the presence of multiple intraductal papillomas."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23640929]",['NCIthesaurus'],"['NCI:C5201', 'UMLS_CUI:C1334247']",['DOID:0060082']
10393,7516,childhood central nervous system mixed germ cell tumor,"""A central nervous system germ cell tumor of childhood that is characterized by mixed germ cell tumor, develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells."" [url:https\://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C27403', 'UMLS_CUI:C1332956']",['DOID:6052']
10395,7519,endocervical carcinoma,"""A cervix carcinoma that is located_in the endocervix."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2067992]",['NCIthesaurus'],"['SNOMEDCT_US_2022_09_01:372098004', 'UMLS_CUI:C1299237']",['DOID:2893']
10397,7520,periductal breast myoepitheliosis,"""A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23533258]",['NCIthesaurus'],"['NCI:C40388', 'UMLS_CUI:C1518974']",['DOID:7521']
10398,7521,breast myoepitheliosis,"""A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts."" [url:http\://www.pathologyoutlines.com/topic/breastmyoepithelioma.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/1709559]",['NCIthesaurus'],"['NCI:C40385', 'UMLS_CUI:C1513799']",['DOID:3004']
10399,7522,"childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered","""A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6773]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6773', 'UMLS_CUI:C1332972']","['DOID:4207', 'DOID:7841']"
10401,7528,acute endometritis,"""An endometritis that is characterized by onset within the past 1 - 3 days."" [url:https\://librepathology.org/wiki/Endometritis, url:https\://www.ncbi.nlm.nih.gov/pubmed/23537790]",['NCIthesaurus'],"['NCI:C27022', 'SNOMEDCT_US_2022_09_01:155976002', 'UMLS_CUI:C0238103']",['DOID:1002']
10402,7531,anal gland adenocarcinoma,"""An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland."" [url:http\://en.wikipedia.org/wiki/Adenocarcinoma]",['NCIthesaurus'],"['NCI:C5609', 'SNOMEDCT_US_2022_09_01:128655006', 'UMLS_CUI:C1266027']",['DOID:3447']
10406,7538,breast ductal adenoma,"""A breast adenoma that is characterized by a prominent fibrotic capsule and a bilayered tubular component."" [url:http\://surgpathcriteria.stanford.edu/breast/ductaladenomabr/printable.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/25862065]",['NCIthesaurus'],"['NCI:C40384', 'UMLS_CUI:C1511307']",['DOID:1625']
10407,7539,pregnancy adenoma,"""A breast adenoma that occurs during pregnancy."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25835417]",['NCIthesaurus'],"['NCI:C9473', 'SNOMEDCT_US_2022_09_01:128651002', 'UMLS_CUI:C1266023']",['DOID:1625']
10408,754,bladder tuberculosis,"""An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles."" [url:https\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD10CM:A18.12', 'ICD9CM:016.1', 'SNOMEDCT_US_2022_09_01:32268008', 'UMLS_CUI:C0152793']",['DOID:2149']
10409,7540,breast apocrine adenoma,"""A breast adenoma that is characterized by apocine differentiation."" [url:http\://surgpathcriteria.stanford.edu/breast/apocrineadenomabr/printable.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/17936522]",['NCIthesaurus'],"['NCI:C40383', 'UMLS_CUI:C1388299']",['DOID:1625']
10410,7541,mixed epithelial/mesenchymal metaplastic breast carcinoma,"""A breast metaplastic carcinoma that is characterized by the presence of epithelial and mesenchymal components."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976087/]",['NCIthesaurus'],"['NCI:C40364', 'UMLS_CUI:C1513365']",['DOID:4680']
10413,7551,gonorrhea,"""A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods."" [url:http\://www.cdc.gov/std/gonorrhea/STDFact-gonorrhea.htm]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'sexually_transmitted_infectious_disease']","['ICD10CM:A54', 'ICD9CM:098', 'MEDDRA:10018604', 'MESH:D006069', 'NCI:C92950', 'SNOMEDCT_US_2022_09_01:186943001', 'UMLS_CUI:C0018081']",['DOID:0050338']
10417,7565,vulvar eccrine porocarcinoma,"""A vulva carcinoma that is characterized by heterogenous histology that includes squamous cells, mucinous cells, clear cells, pigmented cells, and spindle cells and derives_from eccrine sweat glands."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5105286/]",['NCIthesaurus'],"['NCI:C40306', 'UMLS_CUI:C1520081']",['DOID:1294']
10419,7567,vulvar clear cell hidradenocarcinoma,"""A vulva carcinoma that derives_from sweat glands and is characterized by the presence of clear cells."" [url:https\://pubmed.ncbi.nlm.nih.gov/8428700/]",['NCIthesaurus'],"['NCI:C40307', 'UMLS_CUI:C1520076']",['DOID:1294']
10422,7575,pancreatic intraductal papillary-mucinous neoplasm,"""A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C38342]",['NCIthesaurus'],"['SNOMEDCT_US_2022_09_01:128689007', 'UMLS_CUI:C1266071']",['DOID:1795']
10424,7578,breast scirrhous carcinoma,"""A breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132957/]",['NCIthesaurus'],"['NCI:C7362', 'SNOMEDCT_US_2022_09_01:254839007', 'UMLS_CUI:C0346151']",['DOID:3459']
10425,758,situs inversus,"""A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs."" [url:https\://en.wikipedia.org/wiki/Situs_inversus, url:https\://rarediseases.info.nih.gov/diseases/4883/situs-inversus]","['DO_rare_slim', 'NCIthesaurus']","['GARD:4883', 'ICD10CM:Q89.3', 'ICD9CM:759.3', 'MESH:D012857', 'NCI:C87121', 'OMIM:270100', 'SNOMEDCT_US_2022_09_01:157033002', 'UMLS_CUI:C0037221']",['DOID:0050545']
10431,7591,gestational ovarian choriocarcinoma,"""A choriocarcinoma of the ovary that develops in the presence of a preceding gestational event."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520233/]",['NCIthesaurus'],"['NCI:C40442', 'UMLS_CUI:C1517538']",['DOID:5550']
10433,7598,cervical lymphoepithelioma-like carcinoma,"""A cervical squamous cell carcinoma that is characterized by poorly defined islands of undifferentiated squamous cells in a background intensely infi ltrated by lymphocytes. The tumour cells have uniform, vesicular nuclei with prominent nucleoli and moderate amounts of slightly eosinophilic cytoplasm. The cell borders are indistinct."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28217683]",['NCIthesaurus'],"['NCI:C40193', 'UMLS_CUI:C1516418']",['DOID:3744']
10435,76,stomach disease,"""A gastrointestinal system disease that is located_in the stomach."" [url:http\://en.wikipedia.org/wiki/Stomach_disease]",['NCIthesaurus'],"['MESH:D013272', 'NCI:C26886', 'SNOMEDCT_US_2022_09_01:196598004', 'UMLS_CUI:C0038354']",['DOID:77']
10437,7602,conventional osteosarcoma,"""A bone osteosarcoma that is characterized by the presence of osteoid extracellular matrix and that arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation."" [url:https\://radiopaedia.org/articles/osteosarcoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:9195/3', 'NCI:C35870', 'SNOMEDCT_US_2022_09_01:128770002', 'UMLS_CUI:C1266166']",['DOID:3376']
10440,7608,parathyroid adenoma,"""A parathyroid gland benign neoplam that is located_in the parathyroid."" [url:https\://en.wikipedia.org/wiki/Parathyroid_adenoma]",['NCIthesaurus'],"['MESH:D010282', 'NCI:C3916', 'SNOMEDCT_US_2022_09_01:128474007', 'UMLS_CUI:C0262587']",['DOID:60008']
10447,7615,sarcomatosis,"""A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body."" [url:https\://www.merriam-webster.com/dictionary/sarcomatosis]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8800/9', 'NCI:C4243', 'SNOMEDCT_US_2022_09_01:9395006', 'UMLS_CUI:C0334451']",['DOID:1115']
10448,7631,"adult embryonal tumor with multilayered rosettes, C19MC-altered","""An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C8290', 'UMLS_CUI:C0281330']",['DOID:0080903']
10449,7632,Cowper gland carcinoma,"""A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland."" [url:http\://en.wikipedia.org/wiki/Cowper_gland]",['NCIthesaurus'],"['NCI:C39864', 'UMLS_CUI:C1516284']",['DOID:3856']
10457,7650,pulmonary type ovarian small cell carcinoma,"""An ovarian small cell carcinoma that resembles pulmonary small cell carcinoma of neuroendocrine type."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23896708]",['NCIthesaurus'],"['NCI:C40440', 'UMLS_CUI:C1518737']",['DOID:6179']
10458,7651,small-cell carcinoma of the ovary of hypercalcemic type,"""An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939673/]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C40439', 'UMLS_CUI:C1518736']",['DOID:6179']
10460,7664,endometrial mixed adenocarcinoma,"""An endometrial adenocarcinoma that is composed of both type I (endometrioid) and type II (serous or clear cell type) tumors, with at least 10% of each component."" [url:http\://www.pathologyoutlines.com/topic/uterusmixedcarcinoma.html]",['NCIthesaurus'],['NCI:C40153'],['DOID:2870']
10461,7665,non-gestational ovarian choriocarcinoma,"""An ovarian primitive germ cell tumor that has_material_basis_in trophoblastic cells and develops in the absence of a preceding gestational event."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20090265]",['NCIthesaurus'],"['NCI:C39991', 'UMLS_CUI:C1518355']","['DOID:5351', 'DOID:5550']"
10467,768,retinoblastoma,"""A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina."" [url:http\://www.cancer.gov/cancertopics/types/retinoblastoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7563', 'ICDO:9510/3', 'MESH:D012175', 'NCI:C7541', 'OMIM:180200', 'SNOMEDCT_US_2022_09_01:154553002', 'UMLS_CUI:C0035335']",['DOID:771']
10471,769,neuroblastoma,"""An autonomic nervous system neoplasm that derives_from immature nerve cells."" [url:http\://www.cancer.gov/cancertopics/types/neuroblastoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['EFO:0000621', 'GARD:7185', 'ICDO:9500/3', 'MESH:D009447', 'NCI:C3270', 'ORDO:635', 'SNOMEDCT_US_2022_09_01:432328008', 'UMLS_CUI:C0027819']",['DOID:2621']
10472,7693,abdominal aortic aneurysm,"""An aortic aneurysm that is located_in the abdominal aorta."" [url:http\://en.wikipedia.org/wiki/Aortic_aneurysm]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0004214', 'GARD:9181', 'MESH:D017544', 'NCI:C27000', 'OMIM:100070', 'OMIM:609782', 'OMIM:611891', 'OMIM:614375', 'SNOMEDCT_US_2022_09_01:155422008', 'UMLS_CUI:C0162871']",['DOID:3627']
10477,77,gastrointestinal system disease,"""A disease of anatomical entity that is located_in the gastrointestinal tract."" [url:http\://en.wikipedia.org/wiki/Human_gastrointestinal_tract]","['DO_AGR_slim', 'DO_CFDE_slim', 'DO_GXD_slim', 'DO_MGI_slim']","['ICD10CM:K92.9', 'ICD9CM:520-579.99', 'MESH:D004066', 'SNOMEDCT_US_2022_09_01:53619000', 'UMLS_CUI:C0012242']",['DOID:7']
10480,771,retinal cell cancer,"""A malignant neoplasm that derives_from the retina."" [url:http\://www.wrongdiagnosis.com/medical/retinal_cancer.htm]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C7061', 'UMLS_CUI:C1335765']",['DOID:4645']
10485,7725,epilepsy with generalized tonic-clonic seizures,"""An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28276060, url:https\://www.ncbi.nlm.nih.gov/pubmed/28842445]",['NCIthesaurus'],"['MESH:D004830', 'NCI:C3022', 'SNOMEDCT_US_2022_09_01:352818000', 'UMLS_CUI:C0014549']",['DOID:0050705']
10493,7747,childhood extraocular retinoblastoma,"""An extraocular retinoblastoma that effects children."" [url:http\://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C9048', 'UMLS_CUI:C1321870']",['DOID:4656']
10495,7750,adult brain ependymoma,"""A brain ependymoma that is characterized by tumor in the ependyma of adults located_in spine, located_in intracranial (4th ventricle) and has_material_basis_in abnormally proliferating cells derives_from ependymal cells."" [url:https\://en.wikipedia.org/wiki/Ependyma, url:https\://en.wikipedia.org/wiki/Ependymoma]",['NCIthesaurus'],"['NCI:C9372', 'UMLS_CUI:C1332186']",['DOID:7497']
10496,7752,extrahepatic biliary papillomatosis,"""A biliary papillomatosis located_in an extrahepatic bile duct."" [url:https\://pubmed.ncbi.nlm.nih.gov/21988050/]",['NCIthesaurus'],"['NCI:C7124', 'UMLS_CUI:C1333511']",['DOID:5468']
10497,7756,neonatal leukemia,"""A childhood leukemia that occurs during the neonatal period."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3845]",['NCIthesaurus'],"['NCI:C3845', 'UMLS_CUI:C0235813']",['DOID:7757']
10498,7757,childhood leukemia,"""A leukemia that occurs in children."" [url:http\://www.nlm.nih.gov/medlineplus/leukemiachildhood.html]","['DO_cancer_slim', 'DO_RAD_slim', 'NCIthesaurus']","['NCI:C4989', 'UMLS_CUI:C1332977']",['DOID:1240']
10499,7762,childhood multilocular cystic kidney neoplasm,"""A kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma."" [url:http\://radiographics.rsna.org/content/15/3/653.abstract]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6566', 'UMLS_CUI:C1332983']",['DOID:3116']
10503,778,delusional disorder,"""A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect."" [url:http\://en.wikipedia.org/wiki/Delusional_disorder]",['NCIthesaurus'],"['ICD10CM:F22', 'ICD9CM:297.1', 'MESH:D012563', 'NCI:C94379', 'SNOMEDCT_US_2022_09_01:48500005', 'UMLS_CUI:C0011251']",['DOID:2468']
10504,7787,breast osteosarcoma,"""A breast sarcoma that arises from bone."" [url:https\://en.wikipedia.org/wiki/Osteosarcoma]",['NCIthesaurus'],"['NCI:C5189', 'UMLS_CUI:C1335149']",['DOID:3017']
10506,780,placenta disease,"""A uterine disease that is located_in the placenta."" [url:http\://en.wikipedia.org/wiki/Placenta_disease]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7402', 'ICD10CM:O43', 'ICD9CM:646.9', 'MESH:D010922', 'MESH:D011248', 'NCI:C26857', 'NCI:C27619', 'NCI:C34941', 'NCI:C35169', 'SNOMEDCT_US_2022_09_01:125586008', 'SNOMEDCT_US_2022_09_01:172422001', 'SNOMEDCT_US_2022_09_01:198881004', 'UMLS_CUI:C0032045', 'UMLS_CUI:C0032962', 'UMLS_CUI:C0151864', 'UMLS_CUI:C1335423']",['DOID:345']
10509,7808,necrotic uveal melanoma,"""An uveal melanoma characterized by the presence of tumor cell necrosis."" [url:https\://www.nature.com/articles/eye2016275]",['NCIthesaurus'],"['NCI:C7990', 'UMLS_CUI:C0279695']",['DOID:6039']
10518,7827,adult extraosseous osteosarcoma,"""An osteosarcoma that is located_in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material."" [url:https\://pubmed.ncbi.nlm.nih.gov/11786582/]",['NCIthesaurus'],"['NCI:C7925', 'UMLS_CUI:C0278985']",['DOID:3347']
10520,7839,infiltrating nipple syringomatous adenoma,"""A nipple benign neoplasm that is characterized a as locally infiltrative nonmetastasizing tumor of the nipple."" [url:https\://www.pathologyoutlines.com/topic/breastsyringomatousadenomanipple.html]",['NCIthesaurus'],"['NCI:C40363', 'SNOMEDCT_US_2022_09_01:703552001', 'UMLS_CUI:C3839745']",['DOID:3003']
10521,784,chronic kidney disease,"""A kidney failure that is characterized by the gradual loss of kidney function."" [url:https\://www.mayoclinic.org/diseases-conditions/chronic-kidney-disease/symptoms-causes/syc-20354521, url:https\://www.ncbi.nlm.nih.gov/books/NBK499861/]",['NCIthesaurus'],"['ICD10CM:N18.9', 'ICD9CM:585.6', 'MESH:D007676', 'NCI:C9438', 'SNOMEDCT_US_2022_09_01:155856009', 'UMLS_CUI:C0022661']",['DOID:1074']
10523,7841,"childhood embryonal tumor with multilayered rosettes, C19MC-altered","""An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C115203]","['DO_cancer_slim', 'NCIthesaurus']",['NCI:C115203'],['DOID:0080903']
10524,7843,female breast carcinoma,"""A breast carcinoma that is manifested in the female breast."" [url:http\://en.wikipedia.org/wiki/Breast_cancer]",['NCIthesaurus'],"['NCI:C2918', 'UMLS_CUI:C0007104']",['DOID:3459']
10525,7848,interdigitating dendritic cell sarcoma,"""A histiocytic and dendritic cell cancer that effect dendritic cells."" [url:http\://en.wikipedia.org/wiki/Interdigitating_dendritic_cell_sarcoma]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:C96.4', 'ICDO:9757/3', 'MESH:D054739', 'NCI:C9282', 'SNOMEDCT_US_2022_09_01:715664005', 'UMLS_CUI:C1260326']",['DOID:5621']
10526,7849,dendritic cell sarcoma,"""A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes."" [url:http\://findarticles.com/p/articles/mi_m0BUM/is_12_83/ai_n8704912/]",['NCIthesaurus'],"['ICD10CM:C96.4', 'NCI:C27260', 'SNOMEDCT_US_2022_09_01:397355008', 'UMLS_CUI:C1301364']",['DOID:5621']
10532,7878,uterine corpus atypical polypoid adenomyoma,"""An atypical polypoid adenomyoma that is located_in the uterine corpus."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23590013]",['NCIthesaurus'],"['NCI:C40235', 'UMLS_CUI:C1519844']",['DOID:4994']
10533,7880,luteoma,"""An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5641443/]",['NCIthesaurus'],"['ICDO:8610/0', 'NCI:C40445', 'UMLS_CUI:C1517842']",['DOID:0060112']
10535,7894,mite infestation,"""A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae."" [url:http\://en.wikipedia.org/wiki/Mite]",['DO_infectious_disease_slim'],"['ICD10CM:B88.9', 'ICD9CM:133', 'MESH:D008924', 'SNOMEDCT_US_2022_09_01:78166003', 'UMLS_CUI:C0026229']",['DOID:4110']
10540,7910,maxillary sinus squamous cell carcinoma,"""A squamous cell carcinoma that is located_in the maxillary sinus."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25674251]",['NCIthesaurus'],"['NCI:C6064', 'UMLS_CUI:C1334647']",['DOID:1357']
10551,7945,adult central nervous system mixed germ cell tumor,"""A central nervous system adult germ cell tumor that develops from misfolding and misplacement of embryonic cells into the lateral mesoderm, causing these cells to become entrapped in different areas of the brain, has_material_basis_in abnormally proliferating cells derives_from germ cells."" [url:https\://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq]",['NCIthesaurus'],"['NCI:C27402', 'UMLS_CUI:C1332195']",['DOID:5349']
10554,7953,nipple duct carcinoma,"""A nipple carcinoma that is located_in the nipple duct."" [url:http\://www.cancer.gov/dictionary?CdrID=45963]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C27234', 'UMLS_CUI:C1334967']",['DOID:6629']
10558,7961,cervical non-keratinizing squamous cell carcinoma,"""A cervial squamous cell carcinoma that is characterized by polygonal squamous cells growing in sheets or nests but keratin pearls are not present."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3702072/]",['NCIthesaurus'],"['NCI:C40188', 'UMLS_CUI:C1518366']",['DOID:3744']
10559,7962,tamoxifen-related endometrial lesion,"""An endometrial disease that is caused by tamoxifen exposure."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC494940/]",['NCIthesaurus'],"['NCI:C40159', 'UMLS_CUI:C1515212']",['DOID:1005']
10565,7983,breast malignant eccrine spiradenoma,"""A breast cancer that arises_from cutaneous sweat glands and is characterized by a focus of benign spiradenoma within or adjacent to the malignant tumor, as evidenced by increased mitotic rate, necrosis, nuclear atypia, pleomorphism, and hyperchromasia, loss of nested and trabecular growth patterns, and absence of a dual cell population."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601958/, url:https\://www.ncbi.nlm.nih.gov/pubmed/10770427]",['NCIthesaurus'],"['NCI:C5180', 'UMLS_CUI:C1334565']",['DOID:1612']
10566,7984,sclerosing breast papilloma,"""A breast duct papilloma that is characterized by a central area of scarring and elastosis, derived from an obliterated duct."" [url:http\://www.archivesofpathology.org/doi/full/10.5858/arpa.2015-0525-RA?code=coap-site#_i51, url:https\://www.ncbi.nlm.nih.gov/pubmed/25650849]",['NCIthesaurus'],"['NCI:C27944', 'UMLS_CUI:C1335932']",['DOID:1626']
10568,799,varicose veins,"""A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin."" [url:http\://www.nlm.nih.gov/medlineplus/varicoseveins.html, url:https\://www.nhlbi.nih.gov/health/health-topics/topics/vv/]",['NCIthesaurus'],"['ICD10CM:I83.90', 'MESH:D014648', 'NCI:C35114', 'OMIM:192200', 'SNOMEDCT_US_2022_09_01:276504003', 'UMLS_CUI:C0042345']",['DOID:866']
10571,7997,thyrotoxicosis,"""A thyroid gland disease that is characterized by excess thyroid hormone."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22394559]",['NCIthesaurus'],"['ICD10CM:E05.9', 'ICD9CM:242', 'MESH:D013971', 'NCI:C61469', 'SNOMEDCT_US_2022_09_01:154655004', 'UMLS_CUI:C0040156']",['DOID:50']
10572,7998,hyperthyroidism,"""A thyroid gland disease that involves an over production of thyroid hormone."" [url:https\://www.niddk.nih.gov/health-information/endocrine-diseases/hyperthyroidism]",['NCIthesaurus'],"['ICD10CM:E05.9', 'MESH:D006980', 'NCI:C113145', 'NCI:C3123', 'SNOMEDCT_US_2022_09_01:190239004', 'UMLS_CUI:C0020550', 'UMLS_CUI:C3714618']",['DOID:50']
10581,8013,penis papillary carcinoma,"""A papillary carcinoma that is located_in the penis."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22367299]",['NCIthesaurus'],"['NCI:C6983', 'UMLS_CUI:C1335322']",['DOID:5518']
10583,8022,liver fibrosarcoma,"""A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver."" [url:http\://en.wikipedia.org/wiki/Fibrosarcoma]",['NCIthesaurus'],"['NCI:C5832', 'UMLS_CUI:C1333966']",['DOID:270']
10584,8023,myxoid liposarcoma of the ovary,"""A myxoid liposarcoma that is located_in the ovary."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20407326]",['NCIthesaurus'],"['NCI:C5235', 'UMLS_CUI:C1335170']","['DOID:5363', 'DOID:5697']"
10586,8029,sporadic breast cancer,"""A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer."" [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/sporadic-cancer]",['NCIthesaurus'],"['NCI:C7566', 'UMLS_CUI:C1336076']",['DOID:3459']
10589,8036,childhood ovarian embryonal carcinoma,"""An ovarian embryonal carcinoma that occurs in childhood."" [url:http\://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6546', 'UMLS_CUI:C1332989']",['DOID:5681']
10591,8043,chest wall parachordoma,"""A parachordoma arising from the chest wall."" [url:https\://pubmed.ncbi.nlm.nih.gov/24135242/]","['DO_rare_slim', 'NCIthesaurus']","['NCI:C6720', 'UMLS_CUI:C1332934']",['DOID:2647']
10597,8068,intraductal breast myoepitheliosis,"""A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in small ducts."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1709559]",['NCIthesaurus'],"['NCI:C40387', 'UMLS_CUI:C1512935']",['DOID:7521']
10609,8104,vaginal tubulovillous adenoma,"""A vaginal adenoma that is a polyp that resembles colorectal tubulovillous adenoma."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23202776, url:https\://www.ncbi.nlm.nih.gov/pubmed/25672089]",['NCIthesaurus'],"['NCI:C40258', 'UMLS_CUI:C1519933']",['DOID:5402']
10610,8105,extrahepatic bile duct cystadenoma,"""A bile duct cystadenoma located_in an extrahepatic bile duct."" [url:https\://pubmed.ncbi.nlm.nih.gov/25830005/]",['NCIthesaurus'],"['NCI:C5851', 'UMLS_CUI:C1333504']",['DOID:5384']
10614,811,lipodystrophy,"""A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25690482, url:https\://www.ncbi.nlm.nih.gov/pubmed/25833179]",['NCIthesaurus'],"['ICD10CM:E88.1', 'ICD9CM:272.6', 'MESH:D008060', 'NCI:C97093', 'SNOMEDCT_US_2022_09_01:190789006', 'UMLS_CUI:C0023787']",['DOID:65']
10616,8117,neuronitis,"""A central nervous system disease that is characterized by neuron inflammation."" [url:https\://en.wikipedia.org/wiki/Neuroinflammation]",['NCIthesaurus'],"['NCI:C34847', 'UMLS_CUI:C0027881']",['DOID:331']
10617,8118,mature gastric teratoma,"""A mature teratoma that has_material_basis_in gastric tissue."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22953284]",['NCIthesaurus'],"['NCI:C5260', 'UMLS_CUI:C1334635']",['DOID:5561']
10620,8125,osteochondrosis,"""An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone."" [url:http\://medical-dictionary.thefreedictionary.com/osteochondrosis]",['NCIthesaurus'],"['ICD10CM:M92', 'ICD10CM:M93.9', 'ICD9CM:732.6', 'MESH:D055034', 'NCI:C34879', 'SNOMEDCT_US_2022_09_01:203398006', 'SNOMEDCT_US_2022_09_01:65477003', 'UMLS_CUI:C0029429', 'UMLS_CUI:C0158445']",['DOID:0080008']
10621,813,septic arthritis,"""An arthritis that involves infection by a pathogen located_in joint."" [url:http\://en.wikipedia.org/wiki/Septic_arthritis, url:http\://www.hmc.psu.edu/healthinfo/s/septicarthritis.htm, url:http\://www.mayoclinic.com/health/bone-and-joint-infections/DS00545, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000430.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6781', 'ICD10CM:M00', 'ICD9CM:711.90', 'ICD9CM:711.91', 'ICD9CM:711.92', 'ICD9CM:711.93', 'ICD9CM:711.94', 'ICD9CM:711.95', 'ICD9CM:711.96', 'ICD9CM:711.97', 'MESH:D001170', 'NCI:C26700', 'SNOMEDCT_US_2022_09_01:201594004', 'SNOMEDCT_US_2022_09_01:201595003', 'SNOMEDCT_US_2022_09_01:201596002', 'SNOMEDCT_US_2022_09_01:201597006', 'SNOMEDCT_US_2022_09_01:201598001', 'SNOMEDCT_US_2022_09_01:201599009', 'SNOMEDCT_US_2022_09_01:372938004', 'SNOMEDCT_US_2022_09_01:428437005', 'UMLS_CUI:C0003869', 'UMLS_CUI:C0157843', 'UMLS_CUI:C0157844', 'UMLS_CUI:C0157845', 'UMLS_CUI:C0157846', 'UMLS_CUI:C0157847', 'UMLS_CUI:C0157848', 'UMLS_CUI:C0157849']",['DOID:848']
10622,8130,breast columnar cell mucinous carcinoma,"""A breast mucinous carcinoma that is characterized by tall columnar cells with basal, bland nuclei, intracytoplasmic and extracytoplasmic mucin and is grossly solid."" [url:http\://www.pathologyoutlines.com/topic/breastmalignantmucinouscystadenocarcinoma.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/29658333]",['NCIthesaurus'],"['NCI:C40355', 'UMLS_CUI:C1511305']",['DOID:3610']
10633,8158,complement component 5 deficiency,"""A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system."" [url:http\://omim.org/entry/609536, url:https\://ghr.nlm.nih.gov/gene/C5]","['DO_rare_slim', 'NCIthesaurus']","['MESH:C537005', 'NCI:C9469', 'OMIM:609536', 'ORDO:169150']",['DOID:626']
10634,8161,thyroid gland Hurthle cell carcinoma,"""A thyroid gland follicular carcinoma that is characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4946]","['DO_cancer_slim', 'NCIthesaurus']","['MESH:C536913', 'NCI:C4946', 'OMIM:607464', 'SNOMEDCT_US_2022_09_01:423158009', 'UMLS_CUI:C0749424']",['DOID:3962']
10639,8177,endocervical type cervical adenomyoma,"""A cervical adenomyoma that is located_in the endocervix and is characterized by a well circumscribed neoplasm composed of irregularly shaped, benign endocervical-type glands, admixed with myomatous smooth muscle."" [url:http\://www.pathologyoutlines.com/topic/cervixadenomyoma.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/23805464]",['NCIthesaurus'],"['NCI:C40232', 'UMLS_CUI:C1516405']",['DOID:4995']
10640,8178,endometrial type cervical adenomyoma,"""A cervical adenomyoma that is characterized by glands and cysts lined by a single layer of endocervical-type mucinous epithelium admixed with smooth muscle."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8685218]",['NCIthesaurus'],"['NCI:C40233', 'UMLS_CUI:C5557432']",['DOID:4995']
10641,8179,cervical atypical polypoid adenomyoma,"""A cervical adenomyoma that is aumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23805464]",['NCIthesaurus'],"['NCI:C40234', 'UMLS_CUI:C1516409']",['DOID:4995']
10642,8186,fallopian tube gestational choriocarcinoma,"""A gestational choriocarcinoma that is located_in the fallopian tube."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/24219747]",['NCIthesaurus'],"['NCI:C6278', 'UMLS_CUI:C1333593']","['DOID:1963', 'DOID:2025']"
10644,8188,uterine corpus choriocarcinoma,"""A choriocarcinoma that is located_in the uterine corpus."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16720931]",['NCIthesaurus'],"['NCI:C27246', 'UMLS_CUI:C1336904']","['DOID:3594', 'DOID:9460']"
10645,819,mediastinitis,"""A connective tissue disease characterized by inflammation located_in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities."" [url:http\://www.clinicalradiologyonline.net/article/S0009-9260(04)00002-9/fulltext]",['NCIthesaurus'],"['ICD10CM:J98.51', 'ICD9CM:519.2', 'MESH:D008480', 'NCI:C26827', 'SNOMEDCT_US_2022_09_01:47597000', 'UMLS_CUI:C0025064']",['DOID:65']
10648,82,myotonic cataract,"""A cataract that is characterized by multicolored, iridescent opacification of the lens of the eye, and associated with myotonic dystrophy."" [url:https\://www.nature.com/articles/s41433-018-0161-9, url:https\://www.ncbi.nlm.nih.gov/pubmed/25037086]",['NCIthesaurus'],"['ICD9CM:366.43', 'NCI:C34833', 'SNOMEDCT_US_2022_09_01:64741003', 'UMLS_CUI:C0027128']",['DOID:83']
10649,820,myocarditis,"""An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle."" [url:http\://en.wikipedia.org/wiki/Myocarditis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7137', 'ICD10CM:I51.4', 'ICD9CM:429.0', 'KEGG:05416', 'MESH:D009205', 'NCI:C34831', 'SNOMEDCT_US_2022_09_01:50920009', 'UMLS_CUI:C0027059']",['DOID:3978']
10650,8200,tertiary syphilis,"""A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tertiary+syphilis]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'sexually_transmitted_infectious_disease']","['ICD10CM:A52', 'ICD9CM:097.0', 'MESH:C536774', 'NCI:C128414', 'SNOMEDCT_US_2022_09_01:72083004', 'UMLS_CUI:C0153188']",['DOID:4166']
10654,8211,fallopian tube cystadenofibroma,"""A fallopian tube adenofibroma that is characterized by the presence of cysts and/or cystic spaces."" [url:http\://atlasgeneticsoncology.org/Tumors/FallopTubTumID5279.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/26549083]",['NCIthesaurus'],"['NCI:C40114', 'UMLS_CUI:C1517111']",['DOID:5478']
10658,8224,central breast papilloma,"""A breast duct papilloma that is located_in a major duct."" [url:https\://radiopaedia.org/articles/intraductal-papilloma-of-breast, url:https\://www.ncbi.nlm.nih.gov/pubmed/21310798]",['NCIthesaurus'],"['NCI:C36087', 'UMLS_CUI:C1332896']",['DOID:1626']
10660,8227,atypical breast papilloma,"""A breast duct papilloma that is characterized by the presence of cells that are abnormal but are not yet malignant."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20407326]",['NCIthesaurus'],"['NCI:C36089', 'UMLS_CUI:C1332346']",['DOID:1626']
10662,8230,intrahepatic biliary papillomatosis,"""A biliary papillomatosis located_in an intrahepatic bile duct."" [url:https\://pubmed.ncbi.nlm.nih.gov/26885145/]",['NCIthesaurus'],"['NCI:C7125', 'UMLS_CUI:C1334258']",['DOID:5468']
10666,8243,meningeal melanomatosis,"""A central nervous system melanocytic neoplasm that is characterized as an extra-axial well-encapsulated malignant tumour with diffuse meningeal growth and dark coloration (due to high melanin contents)."" [url:https\://neurosurgery.directory/2020/10/04/diffuse-leptomeningeal-melanocytosis/]","['DO_cancer_slim', 'NCIthesaurus']","['ICDO:8728/3', 'NCI:C6891', 'SNOMEDCT_US_2022_09_01:128731008', 'UMLS_CUI:C1266114']",['DOID:4955']
10668,8252,chronic rhinitis,"""A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding."" [url:http\://www.merck.com/mmhe/sec19/ch221/ch221g.html?qt=chronic%20rhinitis&alt=sh]",['NCIthesaurus'],"['ICD10CM:J31.0', 'ICD9CM:472.0', 'NCI:C34479', 'SNOMEDCT_US_2022_09_01:155522005', 'UMLS_CUI:C0008711']",['DOID:4483']
10672,827,ureter tuberculosis,"""An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/28087922]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD9CM:016.2', 'SNOMEDCT_US_2022_09_01:81359005', 'UMLS_CUI:C0152800']",['DOID:2149']
10673,8272,anterior urethra cancer,"""A female urethral cancer located_in the anterior urethra."" [url:https\://www.cancer.gov/publications/dictionaries/cancer-terms/def/anterior-urethral-cancer]",['NCIthesaurus'],"['NCI:C7641', 'UMLS_CUI:C0279930']",['DOID:738']
10675,8275,intratubular embryonal carcinoma,"""An embryonal testis carcinoma that is located within a tubule."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/11900581]",['NCIthesaurus'],"['NCI:C7325', 'UMLS_CUI:C1336096']",['DOID:5680']
10680,8295,scabies,"""A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades."" [url:http\://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B86', 'ICD9CM:133.0', 'MESH:D012532', 'NCI:C34998', 'SNOMEDCT_US_2022_09_01:266224002', 'UMLS_CUI:C0036262']",['DOID:7894']
10681,83,cataract,"""A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision."" [url:http\://en.wikipedia.org/wiki/Cataract, url:https\://www.ncbi.nlm.nih.gov/pubmed/10414631]",['DO_RAD_slim'],"['ICD10CM:H26', 'ICD9CM:366.8', 'OMIM:601371', 'OMIM:PS116200', 'SNOMEDCT_US_2022_09_01:193620000', 'UMLS_CUI:C0029531']",['DOID:110']
10682,8302,mixed endometrial stromal and smooth muscle tumor,"""A uterine corpus cancer that has_material_basis_in endometrial stroma and smooth muscle cells."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25755804]",['NCIthesaurus'],"['NCI:C40178', 'UMLS_CUI:C1513364']",['DOID:9460']
10684,8304,lymph node palisaded myofibroblastoma,"""A lymph node benign neoplasm that is composed of myoid or myofibroblastic spindle cells, with focal palisading and so-called amianthoid fibers."" [url:http\://www.pathologyoutlines.com/topic/softtissueintranodalpalisaded.html]",['NCIthesaurus'],"['NCI:C6584', 'UMLS_CUI:C1335295']",['DOID:0080617']
10686,8307,early invasive cervical adenocarcinoma,"""A cervical adenocarcinoma that is characterized by tumor cells that are identical to those in adenocarcinoma in situ (ACIS) and mcroscopic findings that suggest invasion."" [url:https\://www.uptodate.com/contents/invasive-cervical-adenocarcinoma]",['NCIthesaurus'],"['NCI:C36096', 'UMLS_CUI:C1333369']",['DOID:3702']
10687,8310,sclerosing adenosis of breast,"""A proliferative type fibrocystic change of breast that is characterized by enlarged lobules that are distorted by scar-like tissue and excess glandular tissue."" [url:https\://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/adenosis-of-the-breast.html]",['NCIthesaurus'],"['NCI:C5205', 'SNOMEDCT_US_2022_09_01:105261000119101', 'UMLS_CUI:C1335931']",['DOID:3274']
10688,833,auditory system cancer,"""An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs."" [url:http\://en.wikipedia.org/wiki/Ear]",['NCIthesaurus'],"['MESH:D004428', 'NCI:C3000', 'SNOMEDCT_US_2022_09_01:363228008', 'UMLS_CUI:C0013449']",['DOID:0060116']
10691,8336,childhood choriocarcinoma of the ovary,"""A choriocarcinoma of the ovary that is present during childhood."" [url:https\://www.sciencedirect.com/science/article/pii/S1875957211000349]","['DO_cancer_slim', 'NCIthesaurus']","['NCI:C6549', 'UMLS_CUI:C1332987']",['DOID:5550']
10692,8337,appendicitis,"""A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever."" [url:http\://www.merck.com/mmhe/sec09/ch132/ch132e.html#sec09-ch132-ch132e-1018, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/appendicitis]",['NCIthesaurus'],"['ICD10CM:K37', 'ICD9CM:540-543.99', 'MESH:D001064', 'NCI:C35145', 'SNOMEDCT_US_2022_09_01:155729003', 'UMLS_CUI:C0003615']",['DOID:1518']
10693,8338,villoglandular variant cervical mucinous adenocarcinoma,"""A cervical mucinous adenocarcinoma that is characterized by a dominant pattern of well differentiated, thin and simple papillary structures without broad, fibrovascular cores."" [url:http\://www.pathologyoutlines.com/topic/uterusvilloglandular.html]",['NCIthesaurus'],"['NCI:C40208', 'UMLS_CUI:C4289808']",['DOID:3701']
10694,8339,intestinal variant cervical mucinous adenocarcinoma,"""A cervical mucinous adenocarcinoma that is characterized by areas of intestinal type differentiation."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780314/]",['NCIthesaurus'],"['NCI:C40203', 'UMLS_CUI:C1516422']",['DOID:3701']
10695,8340,endocervical type cervical mucinous adenocarcinoma,"""A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix."" [url:https\://pubmed.ncbi.nlm.nih.gov/22990556/]",['NCIthesaurus'],"['ICDO:8482/3', 'NCI:C40202', 'UMLS_CUI:C1266079']",['DOID:3701']
10696,8352,aortic malignant tumor,"""A vascular cancer that is located_in the aorta."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/14681654]",['NCIthesaurus'],"['NCI:C5375', 'UMLS_CUI:C1334560']",['DOID:175']
10698,8354,complement component 3 deficiency,"""A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections."" [url:https\://www.omim.org/entry/613779]","['DO_rare_slim', 'NCIthesaurus']","['NCI:C9468', 'OMIM:613779', 'ORDO:280133', 'SNOMEDCT_US_2022_09_01:771443008', 'UMLS_CUI:C1332655']",['DOID:626']
10700,8361,glassy cell variant cervical adenosquamous carcinoma,"""A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm."" [url:http\://en.wikipedia.org/wiki/Glassy_cell_carcinoma_of_the_cervix, url:https\://www.ncbi.nlm.nih.gov/pubmed/14749637, url:https\://www.ncbi.nlm.nih.gov/pubmed/15318016]",['NCIthesaurus'],"['NCI:C40212', 'UMLS_CUI:C1516407']",['DOID:5636']
10702,8368,chordoid meningioma,"""A meningioma that is characterized by the predominance of tissues that are histologically similar to chordoma."" [url:https\://pubmed.ncbi.nlm.nih.gov/36692061/]","['DO_rare_slim', 'NCIthesaurus']","['ICDO:9538/1', 'NCI:C6908', 'SNOMEDCT_US_2022_09_01:57606003', 'UMLS_CUI:C1370510']",['DOID:3565']
10708,8399,trombiculiasis,"""A mite infestation that involves rash caused by Leptotrombidium deliense."" [url:http\://en.wikipedia.org/wiki/Trombiculosis]",['DO_infectious_disease_slim'],"['MESH:D014323', 'UMLS_CUI:C0041170']",['DOID:7894']
10709,84,osteochondritis dissecans,"""An ischemic bone disease that results_in necrosis located_in epiphysis."" [url:http\://en.wikipedia.org/wiki/Osteochondritis_dissecans, url:http\://www.mayoclinic.com/health/osteochondritis-dissecans/DS00741]","['DO_rare_slim', 'NCIthesaurus']","['GARD:12703', 'ICD10CM:M93.2', 'ICD10CM:M93.9', 'ICD9CM:732.7', 'MESH:D010007', 'MESH:D010008', 'NCI:C34877', 'NCI:C34878', 'OMIM:165800', 'SNOMEDCT_US_2022_09_01:156821002', 'SNOMEDCT_US_2022_09_01:70736000', 'UMLS_CUI:C0029420', 'UMLS_CUI:C0029421']",['DOID:0080008']
10712,8408,Meckel's diverticulitis,"""A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth."" [url:https\://en.wikipedia.org/wiki/Meckel's_diverticulum#Diverticulitis, url:https\://www.ncbi.nlm.nih.gov/pubmed/17021300, url:https\://www.ncbi.nlm.nih.gov/pubmed/17579156]",['NCIthesaurus'],"['NCI:C27300', 'SNOMEDCT_US_2022_09_01:48241004', 'UMLS_CUI:C0267497']",['DOID:7475']
10713,8409,microinvasive cervical squamous cell carcinoma,"""A cervical squamous cell carcinoma that is characterized by invasion which diagnosed by microscopy only. Invasion is limited to measured stromal invasion with a maximum depth of 5_mm and no wider than 7_mm diameter."" [url:http\://www.pathologyoutlines.com/topic/cervixmicroinvasivescc.html]",['NCIthesaurus'],"['NCI:C36094', 'UMLS_CUI:C1333370']",['DOID:3744']
10714,841,extrinsic allergic alveolitis,"""An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss."" [url:http\://www.merck.com/mmhe/sec04/ch051/ch051b.html, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000109.htm]","['DO_rare_slim', 'NCIthesaurus']","['GARD:12', 'ICD10CM:J67.9', 'ICD9CM:495', 'MESH:D000542', 'NCI:C34369', 'SNOMEDCT_US_2022_09_01:155581001', 'UMLS_CUI:C0002390']",['DOID:3082']
10723,8428,breast apocrine carcinoma in situ,"""A breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast."" [url:http\://surgpathcriteria.stanford.edu/breast/dcis/apocrinedcis.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/23771415, url:https\://www.ncbi.nlm.nih.gov/pubmed/25374127]",['NCIthesaurus'],"['NCI:C5140', 'UMLS_CUI:C1332315']",['DOID:8791']
10725,8432,polycythemia,"""A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow."" [url:https\://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera, url:https\://www.nhlbi.nih.gov/health-topics/polycythemia-vera]",['NCIthesaurus'],"['ICD10CM:D75.1', 'MESH:D011086', 'NCI:C26863', 'SNOMEDCT_US_2022_09_01:127062003', 'UMLS_CUI:C0032461']",['DOID:4961']
10733,8445,intestinal volvulus,"""An intestinal obstruction characterized by abnormal rotation of the intestines."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/20549505]",['NCIthesaurus'],"['ICD10CM:K56.2', 'ICD9CM:560.2', 'MESH:D045822', 'NCI:C98963', 'OMIM:193250', 'SNOMEDCT_US_2022_09_01:9707006', 'UMLS_CUI:C0042961']",['DOID:8437']
10738,8455,pyridoxine deficiency anemia,"""A nutritional deficiency disease that is characterized by normocytic anemia associated with deficiency of pyridoxine (vitamin B6), and has_material_basis_in decreased intake, malabsorption, increased clearance or breakdown, and certain medications (eg isoniazid)."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK470579/]",['NCIthesaurus'],"['ICD10CM:E53.1', 'ICD9CM:266.1', 'MESH:D026681', 'NCI:C85221', 'SNOMEDCT_US_2022_09_01:18881008', 'UMLS_CUI:C0936215']",['DOID:5113']
10740,8457,pellagra,"""A nutritional deficiency disease that is characterized by deficiency of niacin (vitamin B3), has_symptom gastrointestinal disturbance, anorexia, diarrhea, dementia, hallucinations, depression, psychosis, and/or non-specific skin changes, and has_material_basis_in deficiency of niacin, often from inadequate diet, malabsorption, or medication side effects."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/16207585]",['DO_rare_slim'],"['GARD:10014', 'ICD9CM:265.2', 'MESH:D010383', 'SNOMEDCT_US_2022_09_01:267491008', 'UMLS_CUI:C0030783']",['DOID:5113']
10741,8461,Aicardi syndrome,"""A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye."" [url:http\://en.wikipedia.org/wiki/Aicardi_syndrome, url:http\://ghr.nlm.nih.gov/condition/aicardi-syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5764', 'MESH:D058540', 'NCI:C35256', 'OMIM:304050', 'ORDO:50', 'SNOMEDCT_US_2022_09_01:80651009', 'UMLS_CUI:C0175713']",['DOID:225']
10745,8466,retinal degeneration,"""A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina."" [url:https\://en.wikipedia.org/wiki/Retinal_degeneration_(rhodopsin_mutation)]","['DO_FlyBase_slim', 'NCIthesaurus']","['MESH:D012162', 'NCI:C34979', 'SNOMEDCT_US_2022_09_01:95695004', 'UMLS_CUI:C0035304']",['DOID:9799']
10746,8469,influenza,"""A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness."" [url:http\://www.merck.com/mmhe/sec17/ch198/ch198d.html, url:http\://www.who.int/mediacentre/factsheets/2003/fs211/en/]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:J11.1', 'ICD9CM:487', 'MESH:D007251', 'NCI:C53482', 'SNOMEDCT_US_2022_09_01:155559006', 'UMLS_CUI:C0021400']",['DOID:934']
10749,8478,actinomycosis,"""A commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures."" [url:http\://en.wikipedia.org/wiki/Actinomycosis]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['GARD:5728', 'ICD10CM:A42', 'ICD9CM:039.9', 'MESH:D000196', 'NCI:C34350', 'SNOMEDCT_US_2022_09_01:50508009', 'UMLS_CUI:C0001261']",['DOID:0050339']
10750,848,arthritis,"""A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint."" [url:http\://en.wikipedia.org/wiki/Arthritis, url:http\://www.arthritis.org/, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001243.htm, url:https\://www.cdc.gov/arthritis/index.htm]",['NCIthesaurus'],"['ICD10CM:M19.90', 'MESH:D001168', 'NCI:C2883', 'SNOMEDCT_US_2022_09_01:372091005', 'UMLS_CUI:C0003864']",['DOID:3342']
10754,8484,maple bark strippers' lung,"""An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/2735559]",['DO_infectious_disease_slim'],"['ICD10CM:J67.6', 'ICD9CM:495.6', 'SNOMEDCT_US_2022_09_01:86638007', 'UMLS_CUI:C0155890']",['DOID:2473']
10755,8485,mucormycosis,"""An opportunistic mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds."" [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000649.htm]",['DO_infectious_disease_slim'],['MESH:D009091'],['DOID:2473']
10756,8488,polyhydramnios,"""A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac."" [url:http\://en.wikipedia.org/wiki/Polyhydramnios]",['NCIthesaurus'],"['ICD10CM:O40', 'ICD9CM:657.0', 'MESH:D006831', 'NCI:C92848', 'SNOMEDCT_US_2022_09_01:157052008', 'UMLS_CUI:C0020224']",['DOID:780']
10759,8499,night blindness,"""A retinal disease that is characterized by difficulty or the inability to see in relatively low light."" [url:https\://en.wikipedia.org/wiki/Nyctalopia]",['NCIthesaurus'],"['ICD10CM:H53.6', 'ICD9CM:368.6', 'MESH:D009755', 'NCI:C34850', 'SNOMEDCT_US_2022_09_01:75390007', 'UMLS_CUI:C0028077']",['DOID:5679']
10760,850,lung disease,"""A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide."" [url:http\://www.niehs.nih.gov/health/topics/conditions/lung-disease/index.cfm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000066.htm]","['DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:J98.4', 'MESH:D008171', 'NCI:C3198', 'SNOMEDCT_US_2022_09_01:266374002', 'UMLS_CUI:C0024115']",['DOID:0050161']
10764,8503,impetigo herpetiformis,"""An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy."" [url:http\://en.wikipedia.org/wiki/Impetigo_herpetiformis]",['gram-positive_bacterial_infectious_disease'],"['ICD10CM:L40.1', 'ICD9CM:694.3', 'SNOMEDCT_US_2022_09_01:200973000', 'UMLS_CUI:C1314968']",['DOID:8504']
10765,8504,impetigo,"""A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous."" [url:https\://www.mayoclinic.org/diseases-conditions/impetigo/symptoms-causes/syc-20352352]","['gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['ICD10CM:L01.0', 'ICD9CM:684', 'MESH:D007169', 'NCI:C99088', 'SNOMEDCT_US_2022_09_01:156319000', 'UMLS_CUI:C0021099']",['DOID:4223']
10767,8506,bullous pemphigoid,"""A pemphigoid that is characterized by large blisters."" [url:https\://rarediseases.org/rare-diseases/bullous-pemphigoid/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5972', 'ICD10CM:L12.0', 'ICD9CM:694.5', 'MESH:D010391', 'NCI:C84389', 'SNOMEDCT_US_2022_09_01:77090002', 'UMLS_CUI:C0030805']",['DOID:0080841']
10770,851,Bartholin's duct cyst,"""A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12887119]",['NCIthesaurus'],"['ICD10CM:N75.0', 'ICD9CM:616.2', 'NCI:C26706', 'SNOMEDCT_US_2022_09_01:57044006', 'UMLS_CUI:C0004767']",['DOID:229']
10779,853,polymyalgia rheumatica,"""A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck."" [url:https\://medlineplus.gov/polymyalgiarheumatica.html]",['NCIthesaurus'],"['ICD10CM:M35.3', 'ICD9CM:725', 'MESH:D011111', 'NCI:C85018', 'SNOMEDCT_US_2022_09_01:202834009', 'UMLS_CUI:C0032533']",['DOID:854']
10780,8533,hypopharynx cancer,"""A pharynx cancer that is located_in the hypopharynx."" [url:http\://en.wikipedia.org/wiki/Hypopharynx]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9334', 'ICD10CM:C13', 'ICD10CM:C13.2', 'ICD9CM:148', 'ICD9CM:148.3', 'MESH:D007012', 'NCI:C7190', 'SNOMEDCT_US_2022_09_01:93831006', 'SNOMEDCT_US_2022_09_01:93968005', 'UMLS_CUI:C0153398', 'UMLS_CUI:C0496770']",['DOID:0060119']
10782,8536,herpes zoster,"""A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia."" [url:http\://en.wikipedia.org/wiki/Herpes_zoster, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000858.htm]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B02', 'ICD9CM:053', 'MESH:D006562', 'NCI:C71079', 'SNOMEDCT_US_2022_09_01:186514003', 'UMLS_CUI:C0019360']",['DOID:934']
10784,854,collagen disease,"""A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen."" [url:https\://en.wikipedia.org/wiki/Connective_tissue_disease]","['DO_FlyBase_slim', 'NCIthesaurus']","['MESH:D003095', 'NCI:C27204', 'SNOMEDCT_US_2022_09_01:268048008', 'UMLS_CUI:C0009326']",['DOID:65']
10787,8544,chronic fatigue syndrome,"""A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions."" [url:http\://en.wikipedia.org/wiki/Chronic_fatigue_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7121', 'ICD10CM:G93.32', 'ICD9CM:780.71', 'MESH:D015673', 'NCI:C3037', 'SNOMEDCT_US_2022_09_01:193054000', 'UMLS_CUI:C0015674']",['DOID:225']
10788,8545,malignant hyperthermia,"""A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine)."" [url:http\://en.wikipedia.org/wiki/Malignant_hyperthermia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6964', 'ICD10CM:T88.3', 'ICD9CM:995.86', 'MESH:D008305', 'NCI:C84869', 'OMIM:PS145600', 'ORDO:423', 'SNOMEDCT_US_2022_09_01:111738008', 'UMLS_CUI:C0024591']",['DOID:66']
10790,8552,chronic myeloid leukemia,"""A myeloid leukemia that is characterized by over production of white blood cells."" [url:http\://www.cancer.gov/dictionary?CdrID=46755]","['DO_cancer_slim', 'DO_RAD_slim', 'DO_rare_slim', 'NCIthesaurus']","['EFO:0000339', 'GARD:6105', 'ICD9CM:205.1', 'ICDO:9863/3', 'KEGG:05220', 'OMIM:608232', 'ORDO:521', 'SNOMEDCT_US_2022_09_01:154592009', 'UMLS_CUI:C0023473']",['DOID:8692']
10793,8557,oropharynx cancer,"""A pharynx cancer that is located_in the  oropharynx."" [url:http\://www.cancer.gov/dictionary?CdrID=446523]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:C10', 'ICD10CM:C10.2', 'ICD10CM:C10.3', 'ICD10CM:C10.8', 'ICD9CM:146', 'ICD9CM:146.5', 'ICD9CM:146.6', 'ICD9CM:146.7', 'NCI:C7398', 'SNOMEDCT_US_2022_09_01:187686007', 'SNOMEDCT_US_2022_09_01:93933005', 'SNOMEDCT_US_2022_09_01:93971002', 'UMLS_CUI:C0153382', 'UMLS_CUI:C0153388', 'UMLS_CUI:C0153389', 'UMLS_CUI:C0153390']",['DOID:0060119']
10794,856,biotinidase deficiency,"""A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25."" [url:http\://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79241]","['DO_rare_slim', 'NCIthesaurus']","['GARD:894', 'ICD10CM:D81.810', 'MESH:D028921', 'NCI:C84598', 'OMIM:253260', 'SNOMEDCT_US_2022_09_01:8808004', 'UMLS_CUI:C0220754']",['DOID:857']
10796,8566,herpes simplex,"""A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person."" [url:http\://en.wikipedia.org/wiki/Herpes_simplex, url:https\://www.aad.org/public/diseases/a-z/herpes-simplex-overview]",['DO_infectious_disease_slim'],"['ICD10CM:B00.9', 'ICD9CM:054', 'MESH:D006561', 'NCI:C155871', 'SNOMEDCT_US_2022_09_01:88594005', 'UMLS_CUI:C0019348']",['DOID:934']
10797,8567,Hodgkin's lymphoma,"""A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell."" [url:https\://en.wikipedia.org/wiki/Hodgkin%27s_lymphoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/22835602]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['EFO:0000183', 'GARD:2714', 'ICD10CM:C81', 'ICD9CM:201', 'MESH:D006689', 'NCI:C9357', 'OMIM:236000', 'OMIM:300221', 'OMIM:400021', 'ORDO:98293', 'SNOMEDCT_US_2022_09_01:118599009', 'UMLS_CUI:C0019829']",['DOID:0060058']
10798,8568,infectious mononucleosis,"""A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly."" [url:http\://en.wikipedia.org/wiki/Infectious_mononucleosis, url:http\://www.cdc.gov/ncidod/diseases/ebv.htm]","['DO_FlyBase_slim', 'DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B27', 'ICD9CM:075', 'MESH:D007244', 'NCI:C34726', 'SNOMEDCT_US_2022_09_01:154359004', 'UMLS_CUI:C0021345']",['DOID:934']
10799,857,multiple carboxylase deficiency,"""An amino acid metabolic disorder that involves failures of carboxylation enzymes."" [url:http\://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=148]",['DO_rare_slim'],"['GARD:3824', 'ICD10CM:D81.81', 'MESH:D009100', 'SNOMEDCT_US_2022_09_01:62151000119109', 'UMLS_CUI:C0026755']","['DOID:2978', 'DOID:9252']"
10802,8577,ulcerative colitis,"""A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores."" [url:http\://en.wikipedia.org/wiki/Ulcerative_colitis, url:https\://meshb.nlm.nih.gov/record/ui?ui=D003093]",['NCIthesaurus'],"['EFO:0000729', 'ICD10CM:K51', 'ICD9CM:556', 'ICD9CM:556.5', 'MESH:D003093', 'NCI:C2952', 'SNOMEDCT_US_2022_09_01:196988003', 'SNOMEDCT_US_2022_09_01:441971007', 'UMLS_CUI:C0009324', 'UMLS_CUI:C0375359']",['DOID:0060180']
10804,8584,Burkitt lymphoma,"""A mature B-cell neoplasm of B-cells found in the germinal center."" [url:http\://en.wikipedia.org/wiki/Burkitt%27s_lymphoma, url:http\://www.cancer.gov/dictionary?CdrID=45203]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:5973', 'ICD10CM:C83.7', 'ICD9CM:200.2', 'ICDO:9687/3', 'MESH:D002051', 'NCI:C2912', 'OMIM:113970', 'ORDO:543', 'SNOMEDCT_US_2022_09_01:118617000', 'UMLS_CUI:C0006413']",['DOID:706']
10805,859,holocarboxylase synthetase deficiency,"""A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase."" [url:http\://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2721', 'ICD10CM:D81.818', 'MESH:D028922', 'NCI:C98842', 'OMIM:253270', 'SNOMEDCT_US_2022_09_01:15307001', 'UMLS_CUI:C0268581']",['DOID:857']
10808,8596,scarlet fever,"""An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=scarlet%20fever]",['NCIthesaurus'],"['ICD10CM:A38', 'ICD9CM:034', 'ICD9CM:034.1', 'MESH:D012541', 'NCI:C94575', 'SNOMEDCT_US_2022_09_01:154301006', 'SNOMEDCT_US_2022_09_01:154303009', 'UMLS_CUI:C0036285', 'UMLS_CUI:C0343487']",['DOID:974']
10811,8607,herpetic whitlow,"""A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 and has_material_basis_in Human herpesvirus 2 and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes."" [url:http\://en.wikipedia.org/wiki/Herpetic_whitlow]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD9CM:054.6', 'NCI:C128402', 'SNOMEDCT_US_2022_09_01:43891009', 'UMLS_CUI:C0153042']",['DOID:8566']
10813,8618,oral cavity cancer,"""A gastrointestinal system cancer that is located_in the oral cavity."" [url:http\://en.wikipedia.org/wiki/Oral_cancer]","['DO_rare_slim', 'NCIthesaurus', 'TopNodes_DOcancerslim']","['GARD:9360', 'ICD10CM:C04', 'ICD10CM:C04.0', 'ICD10CM:C04.1', 'ICD9CM:144', 'ICD9CM:144.0', 'ICD9CM:144.1', 'NCI:C9318', 'SNOMEDCT_US_2022_09_01:93672006', 'SNOMEDCT_US_2022_09_01:93802007', 'SNOMEDCT_US_2022_09_01:93860002', 'UMLS_CUI:C0153368', 'UMLS_CUI:C0153369', 'UMLS_CUI:C0496758']",['DOID:3119']
10816,8622,measles,"""A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash."" [url:http\://en.wikipedia.org/wiki/Measles]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:3434', 'ICD10CM:B05', 'ICD9CM:055', 'MESH:D008457', 'NCI:C96406', 'SNOMEDCT_US_2022_09_01:154338006', 'UMLS_CUI:C0025007']",['DOID:934']
10818,863,nervous system disease,"""A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system."" [url:http\://en.wikipedia.org/wiki/Nervous_system]","['DO_CFDE_slim', 'DO_GXD_slim', 'DO_MGI_slim', 'NCIthesaurus']","['ICD10CM:G98', 'ICD9CM:349.9', 'MESH:D009422', 'NCI:C26835', 'SNOMEDCT_US_2022_09_01:155262005', 'UMLS_CUI:C0027765']",['DOID:7']
10820,8632,Kaposi's sarcoma,"""A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8)."" [url:http\://cancerres.aacrjournals.org/content/58/8/1599.full.pdf, url:http\://en.wikipedia.org/wiki/Kaposi%27s_sarcoma]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6814', 'ICD10CM:C46', 'ICD10CM:C46.0', 'ICD10CM:C46.1', 'ICD10CM:C46.2', 'ICD10CM:C46.3', 'ICD10CM:C46.4', 'ICD10CM:C46.5', 'ICD9CM:176', 'ICD9CM:176.0', 'ICD9CM:176.1', 'ICD9CM:176.2', 'ICD9CM:176.3', 'ICD9CM:176.4', 'ICD9CM:176.5', 'MESH:D012514', 'NCI:C27500', 'NCI:C3550', 'NCI:C3551', 'NCI:C4578', 'NCI:C4579', 'NCI:C5363', 'NCI:C5523', 'NCI:C5529', 'NCI:C5602', 'NCI:C5706', 'NCI:C5842', 'NCI:C6377', 'NCI:C6749', 'NCI:C7006', 'NCI:C9087', 'SNOMEDCT_US_2022_09_01:109385007', 'SNOMEDCT_US_2022_09_01:109388009', 'SNOMEDCT_US_2022_09_01:109390005', 'SNOMEDCT_US_2022_09_01:188029000', 'SNOMEDCT_US_2022_09_01:188144002', 'SNOMEDCT_US_2022_09_01:188775002', 'SNOMEDCT_US_2022_09_01:255114007', 'SNOMEDCT_US_2022_09_01:255115008', 'UMLS_CUI:C0036220', 'UMLS_CUI:C0153560', 'UMLS_CUI:C0153561', 'UMLS_CUI:C0153562', 'UMLS_CUI:C0153563', 'UMLS_CUI:C0153564', 'UMLS_CUI:C0153565', 'UMLS_CUI:C0346935', 'UMLS_CUI:C0346936', 'UMLS_CUI:C1332265', 'UMLS_CUI:C1332847', 'UMLS_CUI:C1333453', 'UMLS_CUI:C1333744', 'UMLS_CUI:C1333776', 'UMLS_CUI:C1334318', 'UMLS_CUI:C1334457', 'UMLS_CUI:C1335372', 'UMLS_CUI:C1335509']",['DOID:201']
10822,8634,prostate carcinoma in situ,"""An in situ carcinoma that is located_in the prostate."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/25046199]",['NCIthesaurus'],"['ICD10CM:D07.5', 'ICD9CM:233.4', 'SNOMEDCT_US_2022_09_01:92691004', 'UMLS_CUI:C0154088']",['DOID:8719']
10824,864,phlebitis,"""A vein disease that is characterized by inflammation of a vein."" [url:http\://en.wikipedia.org/wiki/Phlebitis]",['NCIthesaurus'],"['ICD10CM:I80', 'MESH:D010689', 'NCI:C38003', 'SNOMEDCT_US_2022_09_01:61599003', 'UMLS_CUI:C0031542']",['DOID:866']
10831,865,vasculitis,"""A vascular disease that is characterized by inflammation of the blood vessels."" [url:http\://en.wikipedia.org/wiki/Vasculitis, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/vas/, url:http\://www.nlm.nih.gov/medlineplus/vasculitis.html]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9565', 'MESH:D014657', 'NCI:C26912', 'SNOMEDCT_US_2022_09_01:195375002', 'UMLS_CUI:C0042384']",['DOID:178']
10834,8659,chickenpox,"""A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters."" [url:http\://www.nlm.nih.gov/medlineplus/chickenpox.html]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B01.9', 'ICD9CM:052', 'MESH:D002644', 'NCI:C97132', 'SNOMEDCT_US_2022_09_01:186508005', 'UMLS_CUI:C0008049']",['DOID:934']
10839,867,maxillary sinus cholesteatoma,"""A cholesteatoma located_in paranasal sinus."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/1503726]",['NCIthesaurus'],"['NCI:C35868', 'UMLS_CUI:C1334644']",['DOID:869']
10840,8670,eating disorder,"""A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health."" [url:http\://en.wikipedia.org/wiki/Eating_disorder]",['NCIthesaurus'],"['ICD10CM:F50', 'ICD9CM:307.50', 'MESH:D001068', 'NCI:C89332', 'SNOMEDCT_US_2022_09_01:72366004', 'UMLS_CUI:C0013473']",['DOID:0060038']
10846,8687,skin carcinoma in situ,"""A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues."" [url:http\://en.wikipedia.org/wiki/Carcinoma_in_situ]",['NCIthesaurus'],"['ICD10CM:D04', 'ICD10CM:D04.0', 'ICD10CM:D04.2', 'ICD10CM:D04.3', 'ICD10CM:D04.4', 'ICD10CM:D04.6', 'ICD10CM:D04.7', 'ICD9CM:232', 'ICD9CM:232.0', 'ICD9CM:232.2', 'ICD9CM:232.3', 'ICD9CM:232.4', 'ICD9CM:232.5', 'ICD9CM:232.6', 'ICD9CM:232.7', 'NCI:C3640', 'SNOMEDCT_US_2022_09_01:189276007', 'SNOMEDCT_US_2022_09_01:189291009', 'SNOMEDCT_US_2022_09_01:189295000', 'SNOMEDCT_US_2022_09_01:190179004', 'SNOMEDCT_US_2022_09_01:255144005', 'SNOMEDCT_US_2022_09_01:92735004', 'SNOMEDCT_US_2022_09_01:92747005', 'SNOMEDCT_US_2022_09_01:92749008', 'UMLS_CUI:C0154073', 'UMLS_CUI:C0154074', 'UMLS_CUI:C0154077', 'UMLS_CUI:C0154078', 'UMLS_CUI:C0154079', 'UMLS_CUI:C0154080', 'UMLS_CUI:C0154081', 'UMLS_CUI:C0347139']",['DOID:8719']
10848,8689,anorexia nervosa,"""An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image."" [url:http\://en.wikipedia.org/wiki/Anorexia_nervosa]",['NCIthesaurus'],"['ICD10CM:F50.0', 'ICD9CM:307.1', 'MESH:D000856', 'NCI:C34387', 'SNOMEDCT_US_2022_09_01:192445002', 'UMLS_CUI:C0003125']",['DOID:8670']
10849,869,cholesteatoma,"""A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction."" [url:https\://en.wikipedia.org/wiki/Cholesteatoma, url:https\://www.ncbi.nlm.nih.gov/pubmed/26223725]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10422', 'ICD10CM:H71.9', 'ICD9CM:385.30', 'MESH:D002781', 'NCI:C2944', 'SNOMEDCT_US_2022_09_01:155244001', 'UMLS_CUI:C0008373']",['DOID:161']
10851,8692,myeloid leukemia,"""A leukemia that is located_in myeloid tissue."" [url:http\://en.wikipedia.org/wiki/Myeloid_leukemia]","['DO_RAD_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:8226', 'ICD10CM:C92', 'ICD9CM:205', 'ICDO:9860/3', 'MESH:D007951', 'NCI:C3172', 'SNOMEDCT_US_2022_09_01:269631008', 'UMLS_CUI:C0023470']",['DOID:1240']
10853,870,neuropathy,"""A nervous system disease that is located_in nerves or nerve cells."" [url:http\://en.wikipedia.org/wiki/Neuropathy_%28disambiguation%29]",['NCIthesaurus'],"['ICD10CM:G62.9', 'NCI:C4731', 'SNOMEDCT_US_2022_09_01:42658009', 'UMLS_CUI:C0442874']",['DOID:574']
10855,8704,genital herpes,"""A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands."" [url:http\://www.cdc.gov/std/herpes/stdfact-herpes.htm]","['DO_infectious_disease_slim', 'NCIthesaurus', 'sexually_transmitted_infectious_disease']","['ICD9CM:054.1', 'MESH:D006558', 'NCI:C14364', 'SNOMEDCT_US_2022_09_01:154333002', 'UMLS_CUI:C0019342']",['DOID:8566']
10857,8717,decubitus ulcer,"""A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bedsore]",['NCIthesaurus'],"['ICD10CM:L89', 'ICD9CM:707.0', 'MESH:D003668', 'NCI:C50706', 'SNOMEDCT_US_2022_09_01:28103007', 'UMLS_CUI:C0011127']",['DOID:8549']
10858,8719,in situ carcinoma,"""A carcinoma that is an early development defined by the absence of invasion of surrounding tissues."" [url:http\://en.wikipedia.org/wiki/Carcinoma_in_situ]","['DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:D09.9', 'ICD9CM:230-234.99', 'MESH:D002278', 'NCI:C2917', 'SNOMEDCT_US_2022_09_01:189208007', 'UMLS_CUI:C0007099']",['DOID:0060071']
10859,8725,vascular dementia,"""A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain."" [url:http\://www.mayoclinic.com/health/vascular-dementia/DS00934, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000739.htm]",['NCIthesaurus'],"['ICD10CM:F01', 'ICD9CM:290.4', 'MESH:D015140', 'MESH:D015161', 'NCI:C34522', 'NCI:C34525', 'SNOMEDCT_US_2022_09_01:192165000', 'SNOMEDCT_US_2022_09_01:56267009', 'UMLS_CUI:C0011263', 'UMLS_CUI:C0011269']",['DOID:1307']
10860,8729,milker's nodule,"""A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy."" [url:http\://www.cfsph.iastate.edu/FastFacts/pdfs/pseudocowpox_F.pdf]","['DO_infectious_disease_slim', 'zoonotic_infectious_disease']","['ICD10CM:B08.04', 'ICD9CM:051.9', 'MESH:D011213', 'SNOMEDCT_US_2022_09_01:266193008', 'UMLS_CUI:C0026143']",['DOID:934']
10861,873,anaerobic pneumonia,"""An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease."" [url:http\://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg]",['DO_infectious_disease_slim'],"['ICD9CM:482.81', 'UMLS_CUI:C0375327']",['DOID:0050152']
10862,8731,carotid body cancer,"""A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery."" [url:http\://www.wrongdiagnosis.com/medical/carotid_body_tumor.htm]",['NCIthesaurus'],"['ICD10CM:C75.4', 'ICD9CM:194.5', 'NCI:C3574', 'SNOMEDCT_US_2022_09_01:93740003', 'UMLS_CUI:C0153656']",['DOID:175']
10863,8736,smallpox,"""A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus, which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk."" [url:http\://www.who.int/csr/disease/smallpox/en/]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7444', 'ICD10CM:B03', 'ICD9CM:050', 'MESH:D012899', 'NCI:C35027', 'SNOMEDCT_US_2022_09_01:266193008', 'UMLS_CUI:C0037354']",['DOID:934']
10865,874,bacterial pneumonia,"""A pneumonia involving inflammation of the lungs caused by bacteria."" [url:http\://en.wikipedia.org/wiki/Bacterial_pneumonia]","['DO_infectious_disease_slim', 'GOLD', 'NCIthesaurus']","['ICD10CM:J15.9', 'ICD9CM:482.9', 'MESH:D018410', 'NCI:C26704', 'SNOMEDCT_US_2022_09_01:53084003', 'UMLS_CUI:C0004626']",['DOID:552']
10866,8741,seborrheic dermatitis,"""A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss."" [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000963.htm]",['NCIthesaurus'],"['ICD10CM:L21', 'ICD9CM:690.1', 'MESH:D012628', 'NCI:C111888', 'SNOMEDCT_US_2022_09_01:156328004', 'UMLS_CUI:C0036508']",['DOID:2723']
10870,8761,acute megakaryocytic leukemia,"""An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers."" [url:https\://en.wikipedia.org/wiki/Acute_megakaryoblastic_leukemia, url:https\://pubmed.ncbi.nlm.nih.gov/26228843/, url:https\://www.orpha.net/data/patho/GB/uk-AMLM7.pdf]","['DO_RAD_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:524', 'ICD10CM:C94.2', 'ICD9CM:207.2', 'ICDO:9910/3', 'MESH:D007947', 'NCI:C3170', 'SNOMEDCT_US_2022_09_01:52220008', 'UMLS_CUI:C0023462']",['DOID:9119']
10871,8771,contagious pustular dermatitis,"""A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis."" [url:http\://en.wikipedia.org/wiki/Orf_%28disease%29, url:http\://www.cdc.gov/mmwr/preview/mmwrhtml/mm5503a1.htm]","['DO_infectious_disease_slim', 'zoonotic_infectious_disease']","['ICD10CM:B08.02', 'ICD9CM:051.2', 'MESH:D004474', 'SNOMEDCT_US_2022_09_01:74050005', 'UMLS_CUI:C0013570']",['DOID:934']
10872,8778,Crohn's disease,"""An intestinal disease that involves inflammation located_in intestine."" [url:http\://en.wikipedia.org/wiki/Chron%27s_disease]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0000384', 'GARD:10232', 'ICD10CM:K50.1', 'ICD9CM:555.1', 'MESH:D003424', 'NCI:C37262', 'SNOMEDCT_US_2022_09_01:7620006', 'UMLS_CUI:C0156147']",['DOID:0050589']
10873,8781,rubella,"""A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis."" [url:http\://en.wikipedia.org/wiki/Rubella]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:4742', 'ICD10CM:B06.9', 'ICD9CM:056', 'MESH:D012409', 'NCI:C85051', 'SNOMEDCT_US_2022_09_01:266192003', 'UMLS_CUI:C0035920']",['DOID:2365']
10878,8802,trachea carcinoma in situ,"""An in situ carcinoma that is located_in the trachea."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076722/]",['NCIthesaurus'],"['ICD10CM:D02.1', 'ICD9CM:231.1', 'NCI:C3639', 'SNOMEDCT_US_2022_09_01:92772005', 'UMLS_CUI:C0154070']",['DOID:8719']
10880,882,heterophyiasis,"""A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected."" [url:http\://www.dpd.cdc.gov/dpdx/HTML/Heterophyiasis.htm]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B66.8', 'ICD9CM:121.6', 'NCI:C128389', 'SNOMEDCT_US_2022_09_01:22905009', 'UMLS_CUI:C0152071']",['DOID:883']
10882,883,parasitic helminthiasis infectious disease,"""A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes."" [url:http\://en.wikipedia.org/wiki/Helminth, url:http\://en.wikipedia.org/wiki/Helminthiasis]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B83.9', 'ICD9CM:120-129.99', 'MESH:D006373', 'NCI:C84751', 'SNOMEDCT_US_2022_09_01:187518006', 'UMLS_CUI:C0018889']",['DOID:1398']
10884,884,metagonimiasis,"""A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected."" [url:http\://www.dpd.cdc.gov/dpdx/HTML/Metagonimiasis.htm]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B66.8', 'ICD9CM:121.5', 'MESH:D014201', 'NCI:C128390', 'SNOMEDCT_US_2022_09_01:37832003', 'UMLS_CUI:C0025530']",['DOID:883']
10885,8849,sublingual gland cancer,"""A  salivary gland cancer that is located_in the sublingual gland."" [url:http\://en.wikipedia.org/wiki/Sublingual_gland]",['NCIthesaurus'],"['ICD10CM:C08.1', 'ICD9CM:142.2', 'NCI:C3527', 'SNOMEDCT_US_2022_09_01:94076001', 'UMLS_CUI:C0153361']",['DOID:8850']
10886,885,fascioliasis,"""A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa."" [url:http\://www.dpd.cdc.gov/dpdx/HTML/Fascioliasis.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:6428', 'ICD10CM:B66.3', 'ICD9CM:121.3', 'MESH:D005211', 'NCI:C128387', 'SNOMEDCT_US_2022_09_01:187125007', 'UMLS_CUI:C0015652']",['DOID:883']
10887,8850,salivary gland cancer,"""An oral cavity cancer that is located_in the salivary gland."" [url:http\://www.cancer.gov/dictionary?CdrID=446528]","['DO_cancer_slim', 'TopNodes_DOcancerslim']","['ICD10CM:C08', 'ICD9CM:142.8', 'SNOMEDCT_US_2022_09_01:187648003', 'UMLS_CUI:C0153362']",['DOID:8618']
10888,8857,lupus erythematosus,"""An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/29366725]",['NCIthesaurus'],"['ICD10CM:L93', 'ICD9CM:695.4', 'NCI:C27153', 'SNOMEDCT_US_2022_09_01:200936003', 'UMLS_CUI:C0409974']",['DOID:417']
10891,8864,acute monocytic leukemia,"""A monocytic leukemia where the majority of monocytic cells are promonocytes."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=18.09d&ns=ncit&code=C4861]",['DO_rare_slim'],"['GARD:525', 'ICD9CM:206.0', 'ICDO:9891/3', 'MESH:D007948', 'OMIM:151380', 'SNOMEDCT_US_2022_09_01:91859000', 'UMLS_CUI:C0023465']",['DOID:8527']
10893,8867,molluscum contagiosum,"""A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center."" [url:http\://en.wikipedia.org/wiki/Molluscum_contagiosum, url:http\://www.cdc.gov/ncidod/dvrd/molluscum/overview.htm]","['DO_infectious_disease_slim', 'sexually_transmitted_infectious_disease']","['ICD10CM:B08.1', 'ICD9CM:078.0', 'MESH:D008976', 'NCI:C155872', 'SNOMEDCT_US_2022_09_01:154360009', 'UMLS_CUI:C0026393']",['DOID:934']
10894,8869,neuromyelitis optica,"""A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis)."" [url:http\://en.wikipedia.org/wiki/Neuromyelitis_optica, url:http\://rarediseases.org/rare-diseases/neuromyelitis-optica/]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0004256', 'GARD:6267', 'ICD10CM:G36.0', 'ICD9CM:341.0', 'MESH:D009471', 'NCI:C84934', 'SNOMEDCT_US_2022_09_01:25044007', 'UMLS_CUI:C0027873']",['DOID:0060004']
10895,8872,penis carcinoma in situ,"""An in situ carcinoma that is located_in the penis."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/8126803]",['NCIthesaurus'],"['ICD10CM:D07.4', 'ICD9CM:233.5', 'NCI:C27790', 'SNOMEDCT_US_2022_09_01:92679008', 'UMLS_CUI:C0154089']",['DOID:8719']
10896,888,fasciolopsiasis,"""A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction."" [url:http\://www.dpd.cdc.gov/dpdx/HTML/Fasciolopsiasis.htm]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B66.5', 'ICD9CM:121.4', 'MESH:D014201', 'NCI:C128388', 'SNOMEDCT_US_2022_09_01:54266002', 'UMLS_CUI:C0015656']",['DOID:883']
10900,8892,pityriasis rosea,"""A dermatitis that is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs."" [url:https\://www.mayoclinic.org/diseases-conditions/pityriasis-rosea/symptoms-causes/syc-20376405]",['NCIthesaurus'],"['ICD10CM:L42', 'ICD9CM:696.3', 'MESH:D017515', 'NCI:C26855', 'SNOMEDCT_US_2022_09_01:156373006', 'UMLS_CUI:C0032026']",['DOID:2723']
10901,8893,psoriasis,"""A skin disease that is characterized by patches of thick red skin and silvery scales."" [url:https\://www.cdc.gov/psoriasis/index.htm]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0000676', 'GARD:10262', 'ICD10CM:L40', 'MESH:D011565', 'NCI:C3346', 'OMIM:PS177900', 'SNOMEDCT_US_2022_09_01:156369008', 'UMLS_CUI:C0033860']",['DOID:37']
10903,891,progressive myoclonus epilepsy,"""A variable age at onset electroclinical syndrome characterised by a relentlessly progressive disease course until death."" [url:http\://pn.bmj.com/content/15/3/164.long]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7140', 'MESH:D020191', 'NCI:C7636', 'OMIM:310370', 'OMIM:PS254800', 'SNOMEDCT_US_2022_09_01:192844008', 'UMLS_CUI:C0751778']",['DOID:0050706']
10904,8912,tinea nigra,"""A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions."" [url:http\://www.mycology.adelaide.edu.au/Mycoses/Superficial/Tinea_nigra/index.html]",['DO_infectious_disease_slim'],"['ICD10CM:B36.1', 'ICD9CM:111.1', 'MESH:C000656904', 'SNOMEDCT_US_2022_09_01:1022006', 'UMLS_CUI:C0152067']",['DOID:0050133']
10905,8913,dermatophytosis,"""A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source."" [url:http\://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/index.html]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B35', 'ICD9CM:110', 'NCI:C26745', 'SNOMEDCT_US_2022_09_01:154394006', 'UMLS_CUI:C0011636']",['DOID:0050134']
10906,8920,leukoplakia of vagina,"""A vaginal disease that is a precancerous lesion that is characterized by the presence of white plaques which cannot be rubbed off. Histology shows increased keratin."" [url:https\://en.wikipedia.org/wiki/Leukoplakia]",['NCIthesaurus'],"['ICD10CM:N89.4', 'ICD9CM:623.1', 'NCI:C3663', 'SNOMEDCT_US_2022_09_01:111420009', 'UMLS_CUI:C0156385']",['DOID:121']
10907,8923,skin melanoma,"""A skin cancer that has_material_basis_in melanocytes."" [url:http\://cancergenome.nih.gov/cancersselected/melanoma, url:http\://en.wikipedia.org/wiki/Melanoma, url:http\://www.cancer.gov/dictionary?CdrID=45135]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:C43.9', 'ICD9CM:172.9', 'MESH:C562393', 'NCI:C3510', 'OMIM:608035', 'OMIM:612263', 'SNOMEDCT_US_2022_09_01:269577007', 'UMLS_CUI:C0151779']",['DOID:4159']
10908,8924,autoimmune thrombocytopenic purpura,"""A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies."" [url:https\://rarediseases.org/rare-diseases/immune-thrombocytopenia/]",['NCIthesaurus'],"['ICD10CM:D69.3', 'ICD9CM:287.31', 'MESH:D016553', 'NCI:C3446', 'OMIM:188030', 'SNOMEDCT_US_2022_09_01:234490009', 'UMLS_CUI:C0398650']",['DOID:8925']
10910,8927,learning disability,"""A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information."" [url:http\://en.wikipedia.org/wiki/Learning_disability, url:http\://www.ldonline.org/ldbasics/whatisld]","['DO_FlyBase_slim', 'NCIthesaurus']","['ICD10CM:F81.9', 'MESH:D007859', 'NCI:C89334', 'SNOMEDCT_US_2022_09_01:1855002', 'SNOMEDCT_US_2022_09_01:192531005', 'UMLS_CUI:C0023186', 'UMLS_CUI:C0751265']",['DOID:0060038']
10912,893,Wilson disease,"""A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes."" [url:https\://pubmed.ncbi.nlm.nih.gov/32279718/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7893', 'ICD10CM:E83.01', 'MESH:D006527', 'NCI:C84756', 'OMIM:277900', 'SNOMEDCT_US_2022_09_01:88518009', 'UMLS_CUI:C0019202']",['DOID:896']
10915,8936,plantar fascial fibromatosis,"""A connective tissue disease characterized by progressive fibrosis and thickening located_in the palmar fascia and has_symptom early painless nodules, has_symptom decreased range of motion, has_symptom weakened grip, and has_symptom eventual contracture."" [url:https\://en.wikipedia.org/wiki/Plantar_fibromatosis]",['NCIthesaurus'],"['ICD10CM:M72.2', 'ICD9CM:728.71', 'MESH:D000071380', 'NCI:C4680', 'SNOMEDCT_US_2022_09_01:240032001', 'UMLS_CUI:C0158360']",['DOID:65']
10921,8955,sideroblastic anemia,"""An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes)."" [url:http\://en.wikipedia.org/wiki/Sideroblastic_anemia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:667', 'ICD10CM:D64.3', 'ICD9CM:285.0', 'MESH:D000756', 'NCI:C36078', 'OMIM:PS300751', 'SNOMEDCT_US_2022_09_01:154810008', 'UMLS_CUI:C0002896']",['DOID:12449']
10922,8956,cowpox,"""A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face."" [url:https\://www.nejm.org/doi/10.1056/NEJMicm1702548?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub%3Dwww.ncbi.nlm.nih.gov]","['DO_infectious_disease_slim', 'zoonotic_infectious_disease']","['ICD10CM:B08.010', 'ICD9CM:051.01', 'MESH:D015605', 'SNOMEDCT_US_2022_09_01:154344005', 'UMLS_CUI:C0010232']",['DOID:934']
10925,8970,subacute sclerosing panencephalitis,"""A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant."" [url:http\://en.wikipedia.org/wiki/Subacute_sclerosing_panencephalitis]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7708', 'ICD10CM:A81.1', 'ICD9CM:046.2', 'MESH:D013344', 'NCI:C85171', 'OMIM:260470', 'SNOMEDCT_US_2022_09_01:84196008', 'UMLS_CUI:C0038522']",['DOID:934']
10926,898,autosomal dominant polycystic kidney disease,"""A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion."" [url:https\://en.wikipedia.org/wiki/Ciliopathy#cite_note-davenport2008-4, url:https\://rarediseases.info.nih.gov/diseases/10413/autosomal-dominant-polycystic-kidney-disease]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7419', 'ICD10CM:Q61.3', 'ICD9CM:753.12', 'MESH:D007690', 'NCI:C75464', 'ORDO:730', 'SNOMEDCT_US_2022_09_01:204955006', 'UMLS_CUI:C0022680']",['DOID:0080322']
10927,8986,narcolepsy,"""A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work."" [url:http\://en.wikipedia.org/wiki/Narcolepsy]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0000614', 'GARD:7162', 'ICD10CM:G47.41', 'ICD9CM:347.0', 'MESH:D009290', 'NCI:C84489', 'OMIM:161400', 'OMIM:605841', 'OMIM:609039', 'OMIM:612417', 'OMIM:612851', 'OMIM:614223', 'OMIM:614250', 'ORDO:2073', 'SNOMEDCT_US_2022_09_01:155059003', 'UMLS_CUI:C0027404']",['DOID:535']
10928,899,choledochal cyst,"""A bile duct disease characterized by cystic dilation of one or more extrahepatic or intrahepatic bile ducts."" [url:https\://pubmed.ncbi.nlm.nih.gov/35212316/, url:https\://www.ncbi.nlm.nih.gov/books/NBK557762/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9229', 'ICD10CM:Q44.4', 'MESH:D015529', 'NCI:C2943', 'OMIM:603003', 'ORDO:480501', 'SNOMEDCT_US_2022_09_01:30533003', 'UMLS_CUI:C0008340']",['DOID:4138']
10929,8991,cervix uteri carcinoma in situ,"""An uterus carcinoma in situ that is located_in the uterine cervix."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1503328/]",['NCIthesaurus'],"['ICD10CM:D06', 'ICD9CM:233.1', 'MESH:D002578', 'SNOMEDCT_US_2022_09_01:92564006', 'UMLS_CUI:C0851140']",['DOID:9108']
10930,8997,polycythemia vera,"""A myeloproliferative neoplasm characterized by erythroid hyperplasia,  myeloid leukocytosis, thrombocytosis, and splenomegaly."" [url:https\://en.wikipedia.org/wiki/Polycythemia_vera, url:https\://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera, url:https\://www.mayoclinic.org/diseases-conditions/polycythemia-vera/symptoms-causes/syc-20355850]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7422', 'ICD10CM:D45', 'ICD9CM:207.1', 'ICD9CM:238.4', 'ICDO:9950/3', 'MESH:D011087', 'NCI:C3336', 'OMIM:263300', 'SNOMEDCT_US_2022_09_01:154644004', 'SNOMEDCT_US_2022_09_01:188753004', 'UMLS_CUI:C0032463', 'UMLS_CUI:C0152272']",['DOID:2226']
10931,90,degenerative disc disease,"""A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc."" [url:http\://en.wikipedia.org/wiki/Degenerative_disc_disease, url:http\://www.cedars-sinai.edu/Patients/Health-Conditions/Degenerative-Disc-Disease.aspx]",['NCIthesaurus'],"['EFO:0004994', 'NCI:C27156', 'SNOMEDCT_US_2022_09_01:156633005', 'UMLS_CUI:C0410606']",['DOID:0080007']
10933,9007,sudden infant death syndrome,"""A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation."" [url:http\://en.wikipedia.org/wiki/Sudden_infant_death_syndrome, url:http\://omim.org/entry/272120, url:http\://www.nlm.nih.gov/medlineplus/suddeninfantdeathsyndrome.html]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7711', 'ICD9CM:798.0', 'MESH:D013398', 'NCI:C85173', 'OMIM:272120', 'SNOMEDCT_US_2022_09_01:51178009', 'UMLS_CUI:C0038644']",['DOID:225']
10934,9008,psoriatic arthritis,"""An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis."" [url:http\://en.wikipedia.org/wiki/Psoriatic_arthropathy, url:http\://www.mayoclinic.com/health/psoriatic-arthritis/DS00476, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000413.htm, url:https\://ghr.nlm.nih.gov/condition/psoriatic-arthritis]",['NCIthesaurus'],"['EFO:0003778', 'ICD10CM:L40.5', 'ICD9CM:696.0', 'MESH:D015535', 'NCI:C61277', 'SNOMEDCT_US_2022_09_01:33339001', 'UMLS_CUI:C0003872']",['DOID:848']
10940,9036,parotid gland cancer,"""A salivary gland cancer that is located_in the parotid gland."" [url:http\://en.wikipedia.org/wiki/Parotid_gland]",['NCIthesaurus'],"['ICD10CM:C07', 'ICD9CM:142.0', 'MESH:D010307', 'NCI:C3525', 'SNOMEDCT_US_2022_09_01:93949007', 'UMLS_CUI:C0747273']",['DOID:8850']
10942,9043,uterine cervix leukoplakia,"""A cervix disease that is characterized by the presence of a hyperkeratotic lesion."" [url:https\://www.ajog.org/article/0002-9378(73)91053-3/abstract?code=ymob-site]",['NCIthesaurus'],"['ICD10CM:N88.0', 'ICD9CM:622.2', 'NCI:C3976', 'SNOMEDCT_US_2022_09_01:50923006', 'UMLS_CUI:C0269194']",['DOID:2253']
10943,905,Zellweger syndrome,"""A peroxisomal biogenesis disorder that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes."" [url:http\://en.wikipedia.org/wiki/Zellweger_Syndrome, url:http\://www.ninds.nih.gov/disorders/zellweger/zellweger.htm, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7917', 'ICD10CM:E71.510', 'MESH:D015211', 'NCI:C85239', 'ORDO:912', 'SNOMEDCT_US_2022_09_01:88469006', 'UMLS_CUI:C0043459']",['DOID:0080377']
10944,9053,bladder carcinoma in situ,"""An in situ carcinoma that is located_in the bladder."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4647140/]",['NCIthesaurus'],"['ICD10CM:D09.0', 'ICD9CM:233.7', 'SNOMEDCT_US_2022_09_01:92546004', 'UMLS_CUI:C0154091']",['DOID:8719']
10945,906,peroxisomal disease,"""An inherited metabolic disorder that involves peroxisome malfunction."" [url:http\://en.wikipedia.org/wiki/Peroxisomal_disorder]","['DO_FlyBase_slim', 'NCIthesaurus']","['ICD10CM:E71.5', 'ICD9CM:277.86', 'MESH:D018901', 'NCI:C85005', 'SNOMEDCT_US_2022_09_01:238059005', 'UMLS_CUI:C0282528']",['DOID:655']
10946,9060,pityriasis versicolor,"""A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales."" [url:http\://mycology.adelaide.edu.au/Mycoses/Superficial/Malassezia_infections/]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B36.0', 'ICD9CM:111.0', 'MESH:D014010', 'NCI:C112833', 'SNOMEDCT_US_2022_09_01:56454009', 'UMLS_CUI:C0040262']",['DOID:0050133']
10947,9063,Ritter's disease,"""A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptom redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability."" [url:http\://en.wikipedia.org/wiki/Ritter%27s_disease, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=staphylococcal+scalded+skin]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['ICD10CM:L00', 'ICD9CM:695.81', 'MESH:D013206', 'NCI:C85077', 'SNOMEDCT_US_2022_09_01:87758007', 'UMLS_CUI:C0038165']",['DOID:0050339']
10948,9065,leishmaniasis,"""A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae)."" [url:http\://www.cdc.gov/ncidod/dpd/parasites/leishmania/factsht_leishmania.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:6881', 'ICD10CM:B55', 'ICD9CM:085', 'MESH:D007896', 'NCI:C34767', 'SNOMEDCT_US_2022_09_01:266206004', 'UMLS_CUI:C0023281']",['DOID:2789']
10951,9074,systemic lupus erythematosus,"""A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart."" [url:http\://en.wikipedia.org/wiki/Systemic_lupus_erythematosus]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0002690', 'GARD:10253', 'ICD10CM:M32.9', 'ICD9CM:710.0', 'KEGG:05322', 'MESH:D008180', 'NCI:C3201', 'OMIM:152700', 'OMIM:300809', 'OMIM:605480', 'OMIM:608437', 'OMIM:609903', 'OMIM:609939', 'OMIM:610065', 'OMIM:610066', 'OMIM:612254', 'OMIM:612378', 'OMIM:613145', 'OMIM:614420', 'ORDO:536', 'SNOMEDCT_US_2022_09_01:156450004', 'UMLS_CUI:C0024141']",['DOID:8857']
10962,9111,cutaneous leishmaniasis,"""A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions."" [url:http\://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm]","['DO_infectious_disease_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['ICD10CM:B55.1', 'MESH:D016773', 'NCI:C34768', 'SNOMEDCT_US_2022_09_01:240637006', 'UMLS_CUI:C0023283']",['DOID:9065']
10963,9113,granuloma inguinale,"""A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers."" [url:http\://en.wikipedia.org/wiki/Granuloma_inguinale]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'sexually_transmitted_infectious_disease']","['GARD:9532', 'ICD10CM:A58', 'ICD9CM:099.2', 'MESH:D006100', 'NCI:C3065', 'SNOMEDCT_US_2022_09_01:186947000', 'UMLS_CUI:C0018190']",['DOID:0050338']
10964,9119,acute myeloid leukemia,"""A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells."" [url:http\://cancergenome.nih.gov/cancersselected/acutemyeloidleukemia, url:http\://en.wikipedia.org/wiki/Acute_myeloid_leukemia, url:http\://www.cancer.gov/dictionary?cdrid=44363, url:https\://www.cancer.org/cancer/acute-myeloid-leukemia/detection-diagnosis-staging/how-classified.html]","['DO_cancer_slim', 'DO_FlyBase_slim', 'DO_RAD_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:12757', 'ICD10CM:C92.0', 'ICD9CM:205.0', 'ICDO:9861/3', 'KEGG:05221', 'MESH:D015470', 'NCI:C3171', 'OMIM:601626', 'SNOMEDCT_US_2022_09_01:17788007', 'UMLS_CUI:C0023467']",['DOID:8692']
10965,9120,amyloidosis,"""A disease of metabolsism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition."" [url:https\://en.wikipedia.org/wiki/Amyloidosis, url:https\://pubmed.ncbi.nlm.nih.gov/33100054/, url:https\://pubmed.ncbi.nlm.nih.gov/33787033/, url:https\://www.tandfonline.com/doi/pdf/10.1080/13506129.2020.1835263?needAccess=true]","['DO_FlyBase_slim', 'DO_MGI_slim', 'NCIthesaurus']","['ICD10CM:E85', 'ICD9CM:277.3', 'MESH:D000686', 'NCI:C2868', 'SNOMEDCT_US_2022_09_01:154769007', 'UMLS_CUI:C0002726']",['DOID:0014667']
10966,9123,eczema herpeticum,"""A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520662/]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B00.0', 'ICD9CM:054.0', 'ICD9CM:054.41', 'MESH:D007617', 'NCI:C35620', 'SNOMEDCT_US_2022_09_01:186544000', 'SNOMEDCT_US_2022_09_01:52464003', 'UMLS_CUI:C0153037', 'UMLS_CUI:C0854331', 'UMLS_CUI:C0936250']",['DOID:8566']
10968,913,atrophic muscular disease,"""A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84574]",['NCIthesaurus'],"['MESH:D020966', 'NCI:C84574', 'UMLS_CUI:C0752352']",['DOID:440']
10973,9146,visceral leishmaniasis,"""A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver."" [url:http\://en.wikipedia.org/wiki/Visceral_leishmaniasis, url:http\://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['ICD10CM:B55.0', 'ICD9CM:085.0', 'MESH:D007898', 'NCI:C34771', 'OMIM:608207', 'OMIM:611381', 'OMIM:611382', 'ORDO:507', 'SNOMEDCT_US_2022_09_01:48115004', 'UMLS_CUI:C0023290']",['DOID:9065']
10975,9153,variola minor,"""A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions."" [url:https\://www.fda.gov/vaccines-blood-biologics/vaccines/smallpox]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD9CM:050.1', 'MESH:D012899', 'NCI:C34365', 'SNOMEDCT_US_2022_09_01:72294005', 'UMLS_CUI:C0001906']",['DOID:8736']
10976,9155,mucocutaneous leishmaniasis,"""A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa."" [url:http\://www.bmj.com/cgi/content/full/329/7470/842]","['DO_infectious_disease_slim', 'zoonotic_infectious_disease']","['ICD10CM:B55.2', 'ICD9CM:085.5', 'MESH:D007897', 'SNOMEDCT_US_2022_09_01:721813000', 'UMLS_CUI:C1328252']",['DOID:9065']
10977,9159,gas gangrene,"""A commensal bacterial infectious disease that results in infection, located in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has symptom large blisters, has symptom pain in the infected area, has symptom myonecrosis, has symptom gas production, and has symptom sepsis."" [url:http\://en.wikipedia.org/wiki/Gas_gangrene, url:http\://www.merckmanuals.com/home/sec17/ch190/ch190g.html#sec17-ch190-ch190g-157]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD10CM:A48.0', 'ICD9CM:040.0', 'MESH:D005738', 'SNOMEDCT_US_2022_09_01:186413007', 'UMLS_CUI:C0017105']",['DOID:0050339']
10979,9164,achalasia,"""An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing."" [url:http\://www.nlm.nih.gov/medlineplus/ency/article/000267.htm]",['NCIthesaurus'],"['ICD10CM:K22.0', 'ICD9CM:530.0', 'MESH:D004931', 'NCI:C84699', 'OMIM:200400', 'SNOMEDCT_US_2022_09_01:17460002', 'UMLS_CUI:C0014848']",['DOID:6050']
10981,9169,Wiskott-Aldrich syndrome,"""A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia)."" [url:https\://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome]",['NCIthesaurus'],"['ICD10CM:D82.0', 'ICD9CM:279.12', 'MESH:D014923', 'NCI:C3448', 'OMIM:301000', 'SNOMEDCT_US_2022_09_01:36070007', 'UMLS_CUI:C0043194']",['DOID:225']
10986,9181,amebiasis,"""A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs."" [url:http\://en.wikipedia.org/wiki/Amoebiasis, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000298.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:652', 'ICD10CM:A06', 'ICD9CM:006', 'MESH:D000562', 'NCI:C84551', 'SNOMEDCT_US_2022_09_01:387754006', 'UMLS_CUI:C0002438']",['DOID:2789']
10987,9182,pemphigus,"""An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causeing lesions and blisters that are easily ruptured."" [url:https\://en.wikipedia.org/wiki/Pemphigus, url:https\://medlineplus.gov/pemphigus.html, url:https\://rarediseases.org/rare-diseases/pemphigus/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7352', 'ICD10CM:L10', 'ICD9CM:694.4', 'MESH:D010392', 'NCI:C34909', 'SNOMEDCT_US_2022_09_01:156355008', 'UMLS_CUI:C0030807']",['DOID:0060039']
10991,92,speech disorder,"""A communication disorder that involves difficulty with the act of speech production."" [url:http\://en.wikipedia.org/wiki/Speech_disorders]",['NCIthesaurus'],"['MESH:D013064', 'NCI:C5041', 'UMLS_CUI:C0037822']",['DOID:2033']
10992,9201,lichen planus,"""A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes."" [url:http\://en.wikipedia.org/wiki/Lichen_planus]","['DO_rare_slim', 'NCIthesaurus']","['GARD:12344', 'ICD10CM:L43', 'ICD9CM:697.0', 'MESH:D008010', 'NCI:C3189', 'SNOMEDCT_US_2022_09_01:156377007', 'UMLS_CUI:C0023646']",['DOID:8574']
10993,9206,Barrett's esophagus,"""An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium."" [url:https\://pubmed.ncbi.nlm.nih.gov/21461873/]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0000280', 'GARD:20', 'ICD10CM:K22.7', 'ICD9CM:530.85', 'MESH:D001471', 'NCI:C2891', 'OMIM:614266', 'SNOMEDCT_US_2022_09_01:302914006', 'UMLS_CUI:C0004763']",['DOID:6050']
10995,9210,herpes zoster oticus,"""A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache."" [url:https\://rarediseases.info.nih.gov/diseases/7525/index]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7525', 'ICD10CM:B02.21', 'ICD9CM:053.11', 'MESH:D016697', 'NCI:C84763', 'SNOMEDCT_US_2022_09_01:21954000', 'UMLS_CUI:C0017409']",['DOID:934']
10996,9212,pityriasis rubra pilaris,"""A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma."" [url:https\://pubmed.ncbi.nlm.nih.gov/29302927/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7401', 'ICD10CM:L44.0', 'ICD9CM:696.4', 'MESH:D010916', 'NCI:C85014', 'OMIM:173200', 'SNOMEDCT_US_2022_09_01:3755001', 'UMLS_CUI:C0032027']",['DOID:37']
10997,9220,central sleep apnea,"""A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing."" [url:http\://en.wikipedia.org/wiki/Central_sleep_apnea, url:http\://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286, url:http\://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/]",['NCIthesaurus'],"['MESH:D020182', 'NCI:C116046', 'OMIM:107640', 'OMIM:207720', 'UMLS_CUI:C0520680']",['DOID:0050847']
11001,9240,erythromelalgia,"""A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature."" [url:https\://en.wikipedia.org/wiki/Erythromelalgia, url:https\://ghr.nlm.nih.gov/condition/erythromelalgia, url:https\://rarediseases.org/rare-diseases/erythromelalgia/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6377', 'ICD10CM:I73.81', 'ICD9CM:443.82', 'MESH:D004916', 'NCI:C34593', 'OMIM:133020', 'SNOMEDCT_US_2022_09_01:238777005', 'UMLS_CUI:C0014804']",['DOID:870']
11002,9245,Alagille syndrome,"""A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts."" [url:https\://www.niddk.nih.gov/health-information/liver-disease/alagille-syndrome/definition-facts]","['DO_rare_slim', 'NCIthesaurus']","['GARD:804', 'ICD10CM:Q44.7', 'MESH:D016738', 'NCI:C35139', 'OMIM:118450', 'OMIM:610205', 'ORDO:52', 'SNOMEDCT_US_2022_09_01:31742004', 'UMLS_CUI:C0085280']",['DOID:409']
11003,9246,cerebral amyloid angiopathy,"""An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia."" [url:http\://en.wikipedia.org/wiki/Cerebral_amyloid_angiopathy]",['DO_rare_slim'],"['MESH:D028243', 'ORDO:85458', 'SNOMEDCT_US_2022_09_01:45639009', 'UMLS_CUI:C0268393', 'UMLS_CUI:C1510489', 'UMLS_CUI:C1527338', 'UMLS_CUI:C1956349']",['DOID:9120']
11004,9248,Pallister-Hall syndrome,"""A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14."" [url:https\://pubmed.ncbi.nlm.nih.gov/31011455/, url:https\://pubmed.ncbi.nlm.nih.gov/8914745/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7305', 'MESH:D054975', 'NCI:C84987', 'OMIM:146510', 'SNOMEDCT_US_2022_09_01:56677004', 'UMLS_CUI:C0265220']",['DOID:225']
11006,9250,acrocallosal syndrome,"""A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation."" [url:http\://en.wikipedia.org/wiki/Acrocallosal_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5721', 'MESH:D055673', 'NCI:C84531', 'OMIM:200990', 'SNOMEDCT_US_2022_09_01:715951007', 'UMLS_CUI:C0796147']",['DOID:225']
11007,9252,amino acid metabolic disorder,"""An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids."" [url:http\://en.wikipedia.org/wiki/Inborn_errors_of_amino_acid_metabolism]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5793', 'ICD10CM:E72.9', 'ICD9CM:270', 'MESH:D000592', 'NCI:C97090', 'SNOMEDCT_US_2022_09_01:42930003', 'UMLS_CUI:C0002514']",['DOID:655']
11009,9254,mast-cell leukemia,"""A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood."" [url:http\://medical-dictionary.thefreedictionary.com/mast+cell+leukemia]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:C94.3', 'ICDO:9742/3', 'MESH:D007946', 'NCI:C3169', 'SNOMEDCT_US_2022_09_01:110002002', 'UMLS_CUI:C0023461']",['DOID:1240']
11010,9255,frontotemporal dementia,"""A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language."" [url:http\://en.wikipedia.org/wiki/Frontotemporal_dementia, url:http\://www.mayoclinic.org/diseases-conditions/frontotemporal-dementia/basics/definition/con-20023876, url:https\://www.ncbi.nlm.nih.gov/pubmed/21121521, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/673/viewAbstract]","['DO_FlyBase_slim', 'DO_rare_slim']","['GARD:8436', 'MESH:C563003', 'OMIM:600274', 'ORDO:282', 'SNOMEDCT_US_2022_09_01:42369001', 'UMLS_CUI:C0520716']",['DOID:1307']
11011,9256,colorectal cancer,"""A large intestine cancer that is located_in the colon and/or located_in the rectum."" [url:http\://www.cancer.gov/dictionary?CdrID=444983]","['DO_cancer_slim', 'DO_CFDE_slim', 'DO_FlyBase_slim', 'DO_RAD_slim']","['ICD10CM:C18.9', 'KEGG:05210', 'MESH:D015179', 'NCI:C2956', 'NCI:C4978', 'OMIM:114500', 'SNOMEDCT_US_2022_09_01:126837005', 'SNOMEDCT_US_2022_09_01:93854002', 'UMLS_CUI:C0009404', 'UMLS_CUI:C0346629']",['DOID:5672']
11012,9258,Waardenburg's syndrome,"""A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes."" [url:http\://en.wikipedia.org/wiki/Waardenburg_syndrome, url:http\://rarediseases.info.nih.gov/gard/5525/waardenburg-syndrome/resources/1, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/430/viewAbstract]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5525', 'MESH:D014849', 'NCI:C75008', 'NCI:C85222', 'OMIM:PS193500', 'ORDO:3440', 'ORDO:895', 'SNOMEDCT_US_2022_09_01:1010606009', 'SNOMEDCT_US_2022_09_01:190695000', 'SNOMEDCT_US_2022_09_01:47434006', 'UMLS_CUI:C0079661', 'UMLS_CUI:C1847800', 'UMLS_CUI:C3266898']",['DOID:225']
11013,9261,nasopharynx carcinoma,"""A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract."" [url:http\://en.wikipedia.org/wiki/Nasopharyngeal_carcinoma]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7163', 'ICD10CM:C11', 'ICD10CM:C11.0', 'ICD10CM:C11.1', 'ICD10CM:C11.2', 'ICD10CM:C11.3', 'ICD9CM:147', 'ICD9CM:147.0', 'ICD9CM:147.1', 'ICD9CM:147.2', 'ICD9CM:147.3', 'MESH:D009303', 'NCI:C9321', 'OMIM:161550', 'OMIM:607107', 'ORDO:150', 'SNOMEDCT_US_2022_09_01:187692001', 'SNOMEDCT_US_2022_09_01:187693006', 'SNOMEDCT_US_2022_09_01:187700006', 'SNOMEDCT_US_2022_09_01:363398003', 'SNOMEDCT_US_2022_09_01:93919005', 'SNOMEDCT_US_2022_09_01:94078000', 'UMLS_CUI:C0153392', 'UMLS_CUI:C0153393', 'UMLS_CUI:C0153394', 'UMLS_CUI:C0153395', 'UMLS_CUI:C0153396', 'UMLS_CUI:C0238301']",['DOID:0060119']
11014,9263,homocystinuria,"""An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine."" [url:http\://en.wikipedia.org/wiki/Homocystinuria]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10770', 'ICD10CM:E72.11', 'MESH:D006712', 'NCI:C84765', 'OMIM:236200', 'OMIM:236250', 'ORDO:394', 'SNOMEDCT_US_2022_09_01:190709008', 'UMLS_CUI:C0019880']",['DOID:9252']
11016,9266,cystinuria,"""An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder."" [url:http\://en.wikipedia.org/wiki/Cystinuria]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6237', 'ICD10CM:E72.01', 'MESH:D003555', 'NCI:C84664', 'OMIM:220100', 'ORDO:214', 'SNOMEDCT_US_2022_09_01:154738008', 'UMLS_CUI:C0010691']",['DOID:9252']
11017,9267,urea cycle disorder,"""An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream."" [url:http\://en.wikipedia.org/wiki/Urea_cycle_disorder]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7837', 'ICD10CM:E72.2', 'ICD9CM:270.6', 'MESH:D056806', 'NCI:C84785', 'SNOMEDCT_US_2022_09_01:36444000', 'UMLS_CUI:C0154246']",['DOID:9252']
11018,9268,glycine encephalopathy,"""An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues."" [url:http\://en.wikipedia.org/wiki/Nonketotic_hyperglycinemia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7219', 'ICD10CM:E72.51', 'MESH:D020158', 'NCI:C84937', 'OMIM:605899', 'SNOMEDCT_US_2022_09_01:237939006', 'UMLS_CUI:C0751748']",['DOID:9252']
11019,9269,maple syrup urine disease,"""An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease]","['DO_rare_slim', 'NCIthesaurus']","['GARD:3228', 'ICD10CM:E71.0', 'MESH:D008375', 'NCI:C34806', 'OMIM:246900', 'OMIM:248600', 'OMIM:615135', 'ORDO:511', 'SNOMEDCT_US_2022_09_01:27718001', 'UMLS_CUI:C0024776']",['DOID:0060159']
11020,9270,alkaptonuria,"""An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct."" [url:http\://en.wikipedia.org/wiki/Alkaptonuria]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5775', 'ICD10CM:E70.29', 'MESH:D000474', 'NCI:C84546', 'OMIM:203500', 'ORDO:56', 'SNOMEDCT_US_2022_09_01:24250001', 'UMLS_CUI:C0002066']",['DOID:9252']
11021,9271,ornithine carbamoyltransferase deficiency,"""An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase."" [url:http\://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8391', 'ICD10CM:E72.4', 'MESH:D020163', 'NCI:C84957', 'OMIM:311250', 'SNOMEDCT_US_2022_09_01:80908008', 'UMLS_CUI:C0268542']",['DOID:9267']
11022,9273,citrullinemia,"""An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood."" [url:http\://en.wikipedia.org/wiki/Citrullinemia]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:E72.23', 'MESH:D020159', 'NCI:C84639', 'ORDO:187', 'SNOMEDCT_US_2022_09_01:15489004', 'UMLS_CUI:C0175683']",['DOID:9267']
11023,9274,hyperlysinemia,"""An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood."" [url:http\://en.wikipedia.org/wiki/Hyperlysinemia]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2828', 'ICD10CM:E72.3', 'MESH:D020167', 'NCI:C123433', 'OMIM:238700', 'OMIM:238710', 'ORDO:2203', 'SNOMEDCT_US_2022_09_01:58558003', 'UMLS_CUI:C0268553']",['DOID:9252']
11024,9275,tyrosinemia,"""An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine."" [url:http\://en.wikipedia.org/wiki/Tyrosinemia]",['NCIthesaurus'],"['ICD10CM:E70.21', 'SNOMEDCT_US_2022_09_01:190694001', 'UMLS_CUI:C0268483']",['DOID:9252']
11026,9278,hyperargininemia,"""An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine."" [url:https\://www.medlink.com/articles/hyperargininemia]",['NCIthesaurus'],"['ICD10CM:E72.21', 'MESH:D020162', 'NCI:C84568', 'OMIM:207800', 'SNOMEDCT_US_2022_09_01:23501004', 'UMLS_CUI:C0268548']",['DOID:9267']
11027,9279,hyperhomocysteinemia,"""An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood."" [url:http\://en.wikipedia.org/wiki/Hyperhomocysteinemia]",['NCIthesaurus'],"['MESH:D020138', 'NCI:C84770', 'OMIM:603174', 'SNOMEDCT_US_2022_09_01:419503008', 'UMLS_CUI:C0598608']",['DOID:9252']
11028,9280,carbamoyl phosphate synthetase I deficiency disease,"""A urea cycle disorder that involves accumulation of ammonia in the blood."" [url:http\://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7269', 'MESH:D020165', 'NCI:C84612', 'OMIM:237300', 'SNOMEDCT_US_2022_09_01:765329008', 'UMLS_CUI:C0751753']",['DOID:9267']
11029,9281,phenylketonuria,"""An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional."" [url:http\://en.wikipedia.org/wiki/Phenylketonuria]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7383', 'ICD9CM:270.1', 'MESH:D010661', 'MESH:D017042', 'NCI:C81315', 'OMIM:261600', 'ORDO:716', 'SNOMEDCT_US_2022_09_01:154735006', 'SNOMEDCT_US_2022_09_01:297225000', 'UMLS_CUI:C0031485', 'UMLS_CUI:C0085547']",['DOID:9252']
11030,9282,ocular hypertension,"""An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss."" [url:https\://en.wikipedia.org/wiki/Ocular_hypertension]",['NCIthesaurus'],"['ICD10CM:H40.05', 'ICD9CM:365.04', 'MESH:D009798', 'NCI:C3285', 'SNOMEDCT_US_2022_09_01:267721003', 'UMLS_CUI:C0028840']",['DOID:5614']
11032,9286,priapism,"""A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain."" [url:http\://en.wikipedia.org/wiki/Priapism, url:http\://my.clevelandclinic.org/disorders/priapism/hic_priapism.aspx]","['DO_rare_slim', 'NCIthesaurus']","['GARD:10016', 'ICD10CM:N48.3', 'ICD9CM:607.3', 'MESH:D011317', 'NCI:C85022', 'SNOMEDCT_US_2022_09_01:155930001', 'UMLS_CUI:C0033117']",['DOID:341']
11034,9296,cleft lip,"""An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences."" [url:https\://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate, url:https\://www.cdc.gov/ncbddd/birthdefects/cleftlip.html]",['NCIthesaurus'],"['EFO:0003959', 'ICD10CM:Q36', 'ICD9CM:749.1', 'ICD9CM:749.11', 'MESH:D002971', 'NCI:C87175', 'SNOMEDCT_US_2022_09_01:156941008', 'SNOMEDCT_US_2022_09_01:62696001', 'UMLS_CUI:C0008924', 'UMLS_CUI:C0158651']",['DOID:0050567']
11035,9297,lip disease,"""A mouth disease located_in the lip."" [url:https\://www.merckmanuals.com/home/mouth-and-dental-disorders/lip-and-tongue-disorders/lip-sores-lip-inflammation-and-other-changes]",['NCIthesaurus'],"['ICD10CM:K13.0', 'ICD9CM:528.5', 'MESH:D008047', 'NCI:C26818', 'SNOMEDCT_US_2022_09_01:90678009', 'UMLS_CUI:C0023760']",['DOID:403']
11037,93,language disorder,"""A communication disorder that involves the processing of linguistic information."" [url:http\://en.wikipedia.org/wiki/Language_disorder]",['NCIthesaurus'],"['ICD10CM:F80.9', 'MESH:D007806', 'NCI:C97155', 'SNOMEDCT_US_2022_09_01:62305002', 'UMLS_CUI:C0023015']",['DOID:2033']
11040,9305,splenic tuberculosis,"""An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen."" [url:https\://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD10CM:A18.85', 'ICD9CM:017.7', 'MESH:D014400', 'SNOMEDCT_US_2022_09_01:28399005', 'UMLS_CUI:C0041331']",['DOID:0050599']
11043,931,monieziasis,"""A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15287174]","['DO_infectious_disease_slim', 'zoonotic_infectious_disease']","['MESH:D008989', 'UMLS_CUI:C0026414']",['DOID:883']
11044,9310,nasal cavity benign neoplasm,"""A respiratory system benign neoplasm that arises from the nasal cavity."" [url:https\://www.mayoclinic.org/diseases-conditions/nasal-paranasal-tumors/symptoms-causes/syc-20354136]",['NCIthesaurus'],"['NCI:C4603', 'SNOMEDCT_US_2022_09_01:188874008', 'UMLS_CUI:C0347215']",['DOID:0050621']
11045,9312,chronic ethmoiditis,"""A ethmoid sinusitis which lasts for 12 weeks or more."" [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html]",['NCIthesaurus'],"['ICD10CM:J32.2', 'ICD9CM:473.2', 'NCI:C34472', 'SNOMEDCT_US_2022_09_01:155528009', 'UMLS_CUI:C0008681']",['DOID:9507']
11046,9317,lymphangitis,"""A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning."" [url:http\://en.wikipedia.org/wiki/Lymphangitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Lymphangitis]","['gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['ICD10CM:I89.1', 'ICD9CM:457.2', 'MESH:D008205', 'NCI:C34790', 'SNOMEDCT_US_2022_09_01:1415005', 'UMLS_CUI:C0024225']",['DOID:75']
11050,934,viral infectious disease,"""A disease by infectious agent that results in infection, has_material_basis_in Viruses."" [url:http\://www.merck.com/mmhe/sec17/ch198/ch198a.html]","['DO_AGR_slim', 'DO_FlyBase_slim', 'DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:A94', 'ICD10CM:B34.9', 'ICD9CM:060-066.99', 'MESH:D001102', 'MESH:D014777', 'NCI:C3439', 'NCI:C34396', 'SNOMEDCT_US_2022_09_01:34014006', 'SNOMEDCT_US_2022_09_01:40610006', 'UMLS_CUI:C0003723', 'UMLS_CUI:C0042769']",['DOID:0050117']
11054,9351,diabetes mellitus,"""A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both."" [url:http\://www.who.int/diabetes/action_online/basics/en/, url:https\://en.wikipedia.org/wiki/Diabetes_mellitus, url:https\://medlineplus.gov/diabetes.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/9686693]",['NCIthesaurus'],"['ICD10CM:E08-E13', 'ICD9CM:250', 'MESH:D003920', 'NCI:C2985', 'SNOMEDCT_US_2022_09_01:267467004', 'UMLS_CUI:C0011849']",['DOID:4194']
11055,9352,type 2 diabetes mellitus,"""A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin."" [url:http\://en.wikipedia.org/wiki/Diabetes, url:http\://en.wikipedia.org/wiki/Diabetes_mellitus_type_2]","['DO_FlyBase_slim', 'NCIthesaurus']","['EFO:0001360', 'ICD10CM:E11', 'KEGG:04930', 'MESH:D003924', 'NCI:C26747', 'OMIM:125853', 'OMIM:601283', 'OMIM:601407', 'OMIM:603694', 'OMIM:608036', 'SNOMEDCT_US_2022_09_01:44054006', 'UMLS_CUI:C0011860']",['DOID:9351']
11057,936,brain disease,"""A central nervous system disease that is located_in the brain."" [url:https\://medlineplus.gov/braindiseases.html]",['NCIthesaurus'],"['ICD10CM:G93.40', 'ICD10CM:G93.9', 'ICD9CM:348.30', 'ICD9CM:348.9', 'MESH:D001927', 'NCI:C26920', 'NCI:C96413', 'SNOMEDCT_US_2022_09_01:81308009', 'UMLS_CUI:C0006111', 'UMLS_CUI:C0085584']",['DOID:331']
11059,9362,status asthmaticus,"""An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK526070/, url:https\://www.ncbi.nlm.nih.gov/pubmed/11399724]",['NCIthesaurus'],"['ICD9CM:493.91', 'MESH:D013224', 'NCI:C122577', 'SNOMEDCT_US_2022_09_01:36979006', 'UMLS_CUI:C0038218']",['DOID:0080810']
11063,9375,Fuchs' heterochromic uveitis,"""A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface."" [url:http\://en.wikipedia.org/wiki/Fuchs_heterochromic_iridocyclitis]",['DO_rare_slim'],"['GARD:6791', 'ICD10CM:H20.81', 'ICD9CM:364.21', 'SNOMEDCT_US_2022_09_01:11226001', 'UMLS_CUI:C0016782']",['DOID:225']
11069,9392,tracheitis,"""A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions."" [url:http\://www.merck.com/mmpe/sec19/ch277/ch277j.html?qt=tracheitis&alt=sh]",['NCIthesaurus'],"['ICD10CM:J04.1', 'ICD9CM:464.1', 'MESH:D014136', 'NCI:C78643', 'SNOMEDCT_US_2022_09_01:155507000', 'SNOMEDCT_US_2022_09_01:62994001', 'UMLS_CUI:C0040584', 'UMLS_CUI:C0149513']",['DOID:3225']
11070,9395,croup,"""A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus."" [url:http\://books.google.com/books?id=G6k0tpPMRsIC&pg=PA254&lpg=PA254&dq#v=onepage&q=&f=false, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000959.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=croup]",['NCIthesaurus'],"['ICD10CM:J05.0', 'ICD9CM:464.4', 'MESH:D003440', 'NCI:C26735', 'SNOMEDCT_US_2022_09_01:71186008', 'UMLS_CUI:C0010380']",['DOID:1579']
11071,9396,acute laryngitis,"""A laryngitis which lasts less than a few days."" [url:http\://en.wikipedia.org/wiki/Laryngitis]",['NCIthesaurus'],"['ICD10CM:J04.0', 'ICD9CM:464.0', 'ICD9CM:464.01', 'NCI:C26688', 'SNOMEDCT_US_2022_09_01:155506009', 'SNOMEDCT_US_2022_09_01:408669002', 'UMLS_CUI:C0001327', 'UMLS_CUI:C0949123']",['DOID:3437']
11072,9398,epiglottitis,"""An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor."" [url:http\://en.wikipedia.org/wiki/Epiglottitis]",['NCIthesaurus'],"['ICD10CM:J05.1', 'ICD10CM:J05.10', 'ICD9CM:464.3', 'MESH:D004826', 'NCI:C116007', 'SNOMEDCT_US_2022_09_01:29608009', 'SNOMEDCT_US_2022_09_01:80384002', 'UMLS_CUI:C0014541', 'UMLS_CUI:C0155814']",['DOID:974']
11075,9406,hypopituitarism,"""A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland."" [url:http\://en.wikipedia.org/wiki/Hypopituitarism]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2917', 'ICD10CM:E23.0', 'MESH:D007018', 'NCI:C62591', 'OMIM:221750', 'OMIM:262600', 'OMIM:262700', 'OMIM:613038', 'OMIM:613986', 'ORDO:95494', 'SNOMEDCT_US_2022_09_01:74728003', 'UMLS_CUI:C0020635']",['DOID:53']
11078,9409,diabetes insipidus,"""A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration."" [url:https\://pubmed.ncbi.nlm.nih.gov/26913870/, url:https\://pubmed.ncbi.nlm.nih.gov/27156759/, url:https\://pubmed.ncbi.nlm.nih.gov/28476225/, url:https\://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7426034/]",['NCIthesaurus'],"['ICD10CM:E23.2', 'ICD9CM:253.5', 'MESH:D003919', 'NCI:C43263', 'SNOMEDCT_US_2022_09_01:190484000', 'UMLS_CUI:C0011848']",['DOID:557']
11079,9410,panhypopituitarism,"""A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/27828722]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:E23.0', 'ICD9CM:253.2', 'MESH:C580003', 'NCI:C110940', 'OMIM:PS613038', 'ORDO:90695', 'SNOMEDCT_US_2022_09_01:154700009', 'UMLS_CUI:C0242343']",['DOID:9406']
11081,9423,blepharitis,"""An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow."" [url:http\://en.wikipedia.org/wiki/Blepharitis]",['NCIthesaurus'],"['ICD10CM:H01.0', 'ICD9CM:373.0', 'ICD9CM:373.4', 'MESH:D001762', 'NCI:C112183', 'SNOMEDCT_US_2022_09_01:193907001', 'SNOMEDCT_US_2022_09_01:193920003', 'UMLS_CUI:C0005741', 'UMLS_CUI:C0155181']",['DOID:530']
11083,9428,intracranial hypertension,"""A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema."" [url:https\://en.wikipedia.org/wiki/Brain_herniation, url:https\://en.wikipedia.org/wiki/Intracranial_pressure]",['NCIthesaurus'],"['MESH:D019586', 'NCI:C84791', 'SNOMEDCT_US_2022_09_01:155052007', 'UMLS_CUI:C0151740']",['DOID:936']
11086,9442,cervical Mullerian papilloma,"""A cervical benign neoplasm that is a polypoid lesion of the superficial cervix or vagina of young girls to adult women and is characterized by papillary stalks covered by mucinous epithelium with focal squamous metaplasia, highly cellular fibrous tissue, no atypia, and minimal mitotic activity."" [url:http\://www.pathologyoutlines.com/topic/cervixmesonephricpap.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/22935300\,]",['NCIthesaurus'],"['NCI:C40215', 'UMLS_CUI:C1516427']",['DOID:0060110']
11087,9445,cervix squamous papilloma,"""A cervical benign neoplasm that is a polypoid lesion characterized by a single papillary frond with a central fibrovascular core and mature squamous epithelium."" [url:http\://www.pathologyoutlines.com/topic/cervixsquamouspapilloma.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/13005077]",['NCIthesaurus'],"['NCI:C6342', 'UMLS_CUI:C1336900']",['DOID:0060110']
11088,9446,cholangitis,"""A bile duct disease that is an inflammation of the bile duct."" [url:http\://en.wikipedia.org/wiki/Cholangitis]",['NCIthesaurus'],"['ICD10CM:K83.0', 'ICD9CM:576.1', 'MESH:D002761', 'NCI:C26718', 'SNOMEDCT_US_2022_09_01:155831003', 'UMLS_CUI:C0008311']",['DOID:4138']
11089,9452,fatty liver disease,"""A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in liver cells via the process of steatosis."" [url:http\://en.wikipedia.org/wiki/Fatty_liver]",['DO_FlyBase_slim'],"['ICD10CM:K70.0', 'ICD9CM:571.0', 'MESH:D005234', 'MESH:D005235', 'OMIM:228100', 'SNOMEDCT_US_2022_09_01:371330000', 'SNOMEDCT_US_2022_09_01:50325005', 'UMLS_CUI:C0015695', 'UMLS_CUI:C0015696']",['DOID:9455']
11092,946,dientamoebiasis,"""A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue."" [url:http\://www.cdc.gov/ncidod/dpd/parasites/dientamoeba/factsht_dientamoeba.htm]",['DO_infectious_disease_slim'],"['MESH:D004030', 'UMLS_CUI:C0012147']",['DOID:2789']
11093,9460,uterine corpus cancer,"""A uterine cancer that is located_in the uterine corpus."" [url:http\://en.wikipedia.org/wiki/Uterine_cancer, url:http\://en.wikipedia.org/wiki/Uterus]",['NCIthesaurus'],"['ICD10CM:C54', 'ICD9CM:182', 'NCI:C3556', 'SNOMEDCT_US_2022_09_01:93718007', 'UMLS_CUI:C0153574']",['DOID:363']
11096,9463,otitis externa,"""An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections."" [url:http\://en.wikipedia.org/wiki/Otitis_externa]",['NCIthesaurus'],"['ICD9CM:380.1', 'NCI:C3299', 'SNOMEDCT_US_2022_09_01:194198006', 'UMLS_CUI:C0021355']",['DOID:379']
11097,9467,nail-patella syndrome,"""A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in LMX1B on chromosome 9q33.3."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/15416035, url:https\://www.ncbi.nlm.nih.gov/pubmed/9590287]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7160', 'ICD10CM:Q87.2', 'MEDDRA:10063431', 'MESH:D009261', 'NCI:C75120', 'OMIM:161200', 'ORDO:2614', 'SNOMEDCT_US_2022_09_01:22199006', 'UMLS_CUI:C0027341']",['DOID:225']
11098,9470,bacterial meningitis,"""A meningitis that has_material_basis_in a bacterial infection."" [url:https\://en.wikipedia.org/wiki/Meningitis#Bacterial]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:5881', 'ICD10CM:G00', 'ICD9CM:320', 'MESH:D016920', 'NCI:C118297', 'SNOMEDCT_US_2022_09_01:267680008', 'UMLS_CUI:C0085437']",['DOID:9471']
11099,9471,meningitis,"""A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells."" [url:http\://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=mmed.section.5162]","['GOLD', 'NCIthesaurus']","['ICD10CM:G03', 'ICD9CM:322.9', 'MESH:D008581', 'NCI:C26828', 'SNOMEDCT_US_2022_09_01:154983000', 'UMLS_CUI:C0025289']",['DOID:331']
11102,9477,pulmonary embolism,"""An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot."" [url:http\://en.wikipedia.org/wiki/Pulmonary_embolism, url:http\://www.nlm.nih.gov/medlineplus/pulmonaryembolism.html]",['NCIthesaurus'],"['ICD10CM:I26', 'MESH:D011655', 'NCI:C50713', 'SNOMEDCT_US_2022_09_01:194882001', 'UMLS_CUI:C0034065']",['DOID:60001']
11103,9478,postpartum depression,"""An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth."" [url:http\://en.wikipedia.org/wiki/Mood_disorder]",['NCIthesaurus'],"['ICD10CM:F53.0', 'MESH:D019052', 'NCI:C92852', 'SNOMEDCT_US_2022_09_01:58703003', 'UMLS_CUI:C0221074']",['DOID:1595']
11105,9487,Meckel's diverticulum,"""A physical disorder that is characterized by a congenital abnormality characterized by the outpouching or sac formation in the ileum."" [url:https\://en.wikipedia.org/wiki/Meckel's_diverticulum]",['NCIthesaurus'],"['ICD10CM:Q43.0', 'ICD9CM:751.0', 'MESH:D008467', 'NCI:C12264', 'OMIM:155140', 'SNOMEDCT_US_2022_09_01:37373007', 'UMLS_CUI:C0025037']",['DOID:0080015']
11112,9502,chronic eosinophilic pneumonia,"""An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease."" [url:http\://www.merck.com/mmhe/print/sec04/ch051/ch051c.html, url:http\://www.merck.com/mmpe/sec05/ch055/ch055d.html#sec05-ch055-ch055d-849]","['DO_rare_slim', 'NCIthesaurus']","['GARD:1130', 'GARD:2134', 'ICD10CM:J82.81', 'NCI:C34471', 'SNOMEDCT_US_2022_09_01:233692000', 'UMLS_CUI:C0008680']",['DOID:5870']
11113,9503,Loeffler syndrome,"""An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection."" [url:http\://en.wikipedia.org/wiki/L%C3%B6ffler%27s_syndrome, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Loeffler%27s%20syndrome]",['NCIthesaurus'],"['ICD10CM:J82.89', 'MESH:D011657', 'NCI:C35301', 'SNOMEDCT_US_2022_09_01:64936001', 'UMLS_CUI:C0242459']",['DOID:5870']
11117,9507,ethmoid sinusitis,"""A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead."" [url:http\://en.wikipedia.org/wiki/sinusitis, url:http\://www.merck.com/mmhe/sec19/ch221/ch221i.html]",['NCIthesaurus'],"['ICD10CM:J32.2', 'MESH:D015521', 'NCI:C34597', 'SNOMEDCT_US_2022_09_01:18643000', 'UMLS_CUI:C0015029']",['DOID:0050127']
11119,9513,plasma cell leukemia,"""A plasma cell neoplasm that is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count."" [url:https\://en.wikipedia.org/wiki/Plasma_cell_leukemia, url:https\://rarediseases.info.nih.gov/diseases/9373/index, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349791/]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:9373', 'ICD10CM:C90.1', 'ICD9CM:203.1', 'ICDO:9733/3', 'MESH:D007952', 'NCI:C3180', 'SNOMEDCT_US_2022_09_01:269630009', 'UMLS_CUI:C0023484']",['DOID:6536']
11121,9521,Laron syndrome,"""A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12."" [url:https\://ghr.nlm.nih.gov/condition/laron-syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/8488849]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6859', 'ICD10CM:E34.321', 'MESH:D046150', 'NCI:C130994', 'OMIM:262500', 'ORDO:633', 'SNOMEDCT_US_2022_09_01:38196001', 'UMLS_CUI:C0271568']",['DOID:225']
11122,9531,latent syphilis,"""A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease."" [url:http\://en.wikipedia.org/wiki/Syphilis#Latent_syphilis]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'sexually_transmitted_infectious_disease']","['ICD10CM:A53.0', 'ICD9CM:097.1', 'MESH:D013592', 'NCI:C35056', 'SNOMEDCT_US_2022_09_01:444150000', 'UMLS_CUI:C0039133']",['DOID:4166']
11123,9534,tuberculous pneumothorax,"""A pneumothorax in which air enters into the pleural cavity."" [url:http\://books.google.com/books?id=9QcpAAAAYAAJ&pg=PA492&lpg#v=onepage&q=&f=false]",['gram-positive_bacterial_infectious_disease'],"['ICD10CM:A15.0', 'ICD9CM:011.7', 'SNOMEDCT_US_2022_09_01:29731002', 'UMLS_CUI:C0152600']",['DOID:1673']
11124,9537,Lassa fever,"""A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding."" [url:http\://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lassaf.htm]","['DO_infectious_disease_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['ICD10CM:A96.2', 'MESH:D007835', 'NCI:C128418', 'SNOMEDCT_US_2022_09_01:19065005', 'UMLS_CUI:C0023092']",['DOID:934']
11125,9538,multiple myeloma,"""A myeloid neoplasm that is located_in the plasma cells in bone marrow."" [url:http\://en.wikipedia.org/wiki/Multiple_myeloma, url:http\://www.cancer.gov/dictionary?CdrID=411384]","['DO_cancer_slim', 'DO_rare_slim', 'NCIthesaurus']","['EFO:0001378', 'GARD:7108', 'ICD10CM:C90.0', 'ICD9CM:203.0', 'MESH:D009101', 'NCI:C3242', 'OMIM:254500', 'ORDO:29073', 'SNOMEDCT_US_2022_09_01:94705007', 'UMLS_CUI:C0026764']",['DOID:0070004']
11133,9553,adrenal gland disease,"""An endocrine system disease that is located_in the adrenal gland."" [url:http\://en.wikipedia.org/wiki/Adrenal_gland_disease]",['NCIthesaurus'],"['ICD10CM:E27.9', 'ICD9CM:255.9', 'MESH:D000307', 'NCI:C26690', 'SNOMEDCT_US_2022_09_01:30171000', 'UMLS_CUI:C0001621']",['DOID:28']
11136,9562,primary ciliary dyskinesia,"""A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube."" [url:http\://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:4484', 'MESH:D002925', 'NCI:C84638', 'OMIM:PS244400', 'ORDO:244', 'SNOMEDCT_US_2022_09_01:86204009', 'UMLS_CUI:C0008780']",['DOID:0060340']
11137,9563,bronchiectasis,"""A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances."" [url:http\://www.merck.com/mmhe/sec04/ch047/ch047a.html, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiectasis]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:J47', 'ICD9CM:494', 'MESH:D001987', 'NCI:C84475', 'OMIM:211400', 'OMIM:613021', 'OMIM:613071', 'OMIM:PS211400', 'ORDO:60033', 'SNOMEDCT_US_2022_09_01:155580000', 'UMLS_CUI:C0006267']",['DOID:1176']
11140,9577,neonatal candidiasis,"""A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates."" [url:http\://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:P37.5', 'ICD9CM:771.7', 'NCI:C116810', 'SNOMEDCT_US_2022_09_01:3973009', 'UMLS_CUI:C0276682']",['DOID:1508']
11141,9584,Venezuelan equine encephalitis,"""A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region."" [url:http\://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:6355', 'ICD10CM:A92.2', 'ICD9CM:066.2', 'MESH:D004685', 'NCI:C35121', 'SNOMEDCT_US_2022_09_01:89990001', 'UMLS_CUI:C0014078']",['DOID:934']
11142,9588,encephalitis,"""A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms."" [url:http\://en.wikipedia.org/wiki/Encephalitis, url:http\://www.mayoclinic.org/diseases-conditions/encephalitis/basics/definition/con-20021917, url:http\://www.nlm.nih.gov/medlineplus/encephalitis.html]",['NCIthesaurus'],"['MESH:D004660', 'NCI:C26760', 'SNOMEDCT_US_2022_09_01:267682000', 'UMLS_CUI:C0014038']",['DOID:936']
11146,9597,Krukenberg carcinoma,"""An ovary epithelial cancer that is a metastatic signet-ring cell carcinoma, which spreads to the ovary from gastric tissue."" [url:https\://en.wikipedia.org/wiki/Krukenberg_tumor, url:https\://www.ncbi.nlm.nih.gov/books/NBK482284/, url:https\://www.ncbi.nlm.nih.gov/pubmed/29113663, url:https\://www.ncbi.nlm.nih.gov/pubmed/29489206]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8627', 'MESH:D007725', 'NCI:C3153', 'SNOMEDCT_US_2022_09_01:4305004', 'UMLS_CUI:C0022790']",['DOID:2152']
11147,9598,fasciitis,"""A connective tissue disease characterized by inflammation located in the fascia."" [url:https\://en.wikipedia.org/wiki/Fasciitis, url:https\://www.mayoclinic.org/diseases-conditions/plantar-fasciitis/symptoms-causes/syc-20354846]",['NCIthesaurus'],"['ICD10CM:M72.9', 'ICD9CM:729.4', 'MESH:D005208', 'NCI:C50559', 'SNOMEDCT_US_2022_09_01:36948007', 'UMLS_CUI:C0015645']",['DOID:65']
11149,96,staphyloenterotoxemia,"""A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness."" [url:https\://pubmed.ncbi.nlm.nih.gov/22091892/]","['DO_infectious_disease_slim', 'GOLD', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['ICD10CM:A05.0', 'ICD9CM:005.0', 'MESH:D013202', 'NCI:C35037', 'SNOMEDCT_US_2022_09_01:84622004', 'UMLS_CUI:C0038159']",['DOID:0050338']
11158,9620,vesicoureteral reflux,"""A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter."" [url:http\://en.wikipedia.org/wiki/Vesicoureteral_reflux, url:http\://ghr.nlm.nih.gov/glossary=vesicoureteralreflux, url:http\://www.mayoclinic.org/diseases-conditions/vesicoureteral-reflux/basics/definition/con-20031544?_ga=1.233953949.2017809229.1415219956]","['DO_rare_slim', 'NCIthesaurus']","['ICD10CM:N13.7', 'ICD9CM:593.7', 'MESH:D014718', 'NCI:C84467', 'OMIM:193000', 'OMIM:314550', 'OMIM:610878', 'OMIM:613674', 'OMIM:614317', 'OMIM:614318', 'OMIM:614319', 'OMIM:614674', 'OMIM:615390', 'OMIM:615963', 'ORDO:289365', 'SNOMEDCT_US_2022_09_01:197811007', 'UMLS_CUI:C0042580']",['DOID:1426']
11161,963,episodic ataxia,"""A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement."" [url:http\://en.wikipedia.org/wiki/Episodic_ataxia, url:http\://ghr.nlm.nih.gov/condition/episodic-ataxia]",['DO_rare_slim'],"['GARD:9851', 'MESH:C580065', 'ORDO:211062', 'SNOMEDCT_US_2022_09_01:421455009', 'UMLS_CUI:C1720189']",['DOID:0050951']
11162,9631,Pelger-Huet anomaly,"""A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/12118250]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9148', 'MESH:D010381', 'NCI:C85002', 'OMIM:169400', 'SNOMEDCT_US_2022_09_01:85559002', 'UMLS_CUI:C0030779']",['DOID:74']
11163,9637,stomatitis,"""A mouth disease that is characterized by inflammation of the mouth and lips."" [url:https\://en.wikipedia.org/wiki/Stomatitis]","['DO_RAD_slim', 'NCIthesaurus']","['ICD10CM:K12.1', 'MESH:D013280', 'NCI:C26887', 'SNOMEDCT_US_2022_09_01:95361005', 'UMLS_CUI:C0038362']",['DOID:403']
11164,9640,sarcocystosis,"""A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy."" [url:http\://www.cfsph.iastate.edu/Factsheets/pdfs/sarcocystosis.pdf, url:http\://www.dpd.cdc.gov/DPDx/HTML/Sarcocystosis.htm]",['DO_infectious_disease_slim'],"['ICD10CM:A07.8', 'ICD9CM:136.5', 'MESH:D012523', 'SNOMEDCT_US_2022_09_01:88905005', 'UMLS_CUI:C0036231']",['DOID:2113']
11165,9643,babesiosis,"""A parasitic protozoa infectious disease that has_symptom mild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease."" [url:http\://en.wikipedia.org/wiki/Babesiosis]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus', 'tick-borne_infectious_disease', 'zoonotic_infectious_disease']","['GARD:5878', 'ICD10CM:B60.0', 'ICD9CM:088.82', 'MESH:D001404', 'NCI:C84581', 'SNOMEDCT_US_2022_09_01:187241002', 'UMLS_CUI:C0004576']",['DOID:2789']
11166,9649,congenital nystagmus,"""A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction."" [url:http\://en.wikipedia.org/wiki/Nystagmus, url:http\://ghr.nlm.nih.gov/glossary=nystagmus, url:http\://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/approach_to_the_patient_with_ear_problems/evaluation_of_ear_disorders.html#v942669]",['DO_rare_slim'],"['ICD10CM:H55.01', 'ICD9CM:379.51', 'MESH:D020417', 'OMIM:PS310700', 'ORDO:651', 'SNOMEDCT_US_2022_09_01:155205009', 'UMLS_CUI:C0700501']",['DOID:9650']
11170,9663,aphthous stomatitis,"""A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers."" [url:http\://en.wikipedia.org/wiki/Aphthous_stomatitis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:5834', 'ICD9CM:528.2', 'MESH:D013281', 'NCI:C62546', 'SNOMEDCT_US_2022_09_01:398870000', 'UMLS_CUI:C0038363']",['DOID:9637']
11171,9667,placental abruption,"""A placenta disease that is characterized by separation of the placental lining from the uterus of the mother."" [url:http\://en.wikipedia.org/wiki/Abruptio_placentae]",['NCIthesaurus'],"['ICD10CM:O20.0', 'ICD9CM:640.0', 'MESH:D000033', 'NCI:C112857', 'SNOMEDCT_US_2022_09_01:54048003', 'UMLS_CUI:C0000821']",['DOID:780']
11172,9669,senile cataract,"""A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging."" [url:https\://eyewiki.aao.org/Cataract]",['NCIthesaurus'],"['ICD10CM:H25', 'ICD9CM:366.1', 'NCI:C35012', 'SNOMEDCT_US_2022_09_01:39450006', 'UMLS_CUI:C0036646']",['DOID:83']
11176,9681,cervical incompetence,"""A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term."" [url:http\://en.wikipedia.org/wiki/Cervical_incompetence]",['NCIthesaurus'],"['ICD10CM:N88.3', 'ICD9CM:622.5', 'MESH:D002581', 'NCI:C50607', 'SNOMEDCT_US_2022_09_01:36836005', 'UMLS_CUI:C0007871']",['DOID:2253']
11177,9682,yellow fever,"""A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus, which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood."" [url:http\://en.wikipedia.org/wiki/Yellow_fever, url:http\://www.who.int/mediacentre/factsheets/fs100/en/index.html, url:https\://www.cdc.gov/yellowfever/]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus', 'zoonotic_infectious_disease']","['GARD:7914', 'ICD10CM:A95', 'ICD9CM:060', 'MESH:D015004', 'NCI:C35547', 'SNOMEDCT_US_2022_09_01:154345006', 'UMLS_CUI:C0043395']",['DOID:934']
11181,9699,ophthalmia neonatorum,"""A bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge."" [url:https\://en.wikipedia.org/wiki/Neonatal_conjunctivitis]","['DO_infectious_disease_slim', 'DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus']","['GARD:2546', 'ICD10CM:P39.1', 'ICD9CM:771.6', 'NCI:C116815', 'SNOMEDCT_US_2022_09_01:206345004', 'SNOMEDCT_US_2022_09_01:80881003', 'UMLS_CUI:C0027611', 'UMLS_CUI:C0029076']",['DOID:9700']
11188,9719,neovascular inflammatory vitreoretinopathy,"""A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in CAPN5 on chromosome 11q13.5."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/23055945]",['DO_rare_slim'],"['MESH:D018630', 'OMIM:193235', 'ORDO:329211', 'SNOMEDCT_US_2022_09_01:232016005', 'UMLS_CUI:C0242852']","['DOID:5679', 'DOID:9720']"
11194,9733,renal tuberculosis,"""An urogenital tuberculosis that results_in formation of granulomas located_in kidney."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736345/]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['ICD9CM:016.0', 'MESH:D014398', 'NCI:C123020', 'SNOMEDCT_US_2022_09_01:44323002', 'UMLS_CUI:C0041328']",['DOID:2149']
11203,9744,type 1 diabetes mellitus,"""A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production."" [url:http\://en.wikipedia.org/wiki/Diabetes, url:http\://en.wikipedia.org/wiki/Diabetes_mellitus_type_1]","['DO_rare_slim', 'NCIthesaurus']","['EFO:0001359', 'GARD:10268', 'ICD10CM:E10', 'KEGG:04940', 'MESH:D003922', 'NCI:C2986', 'OMIM:222100', 'SNOMEDCT_US_2022_09_01:46635009', 'UMLS_CUI:C0011854']",['DOID:9351']
11205,9746,hemorrhoid,"""A pelvic varices that is characterized by swollen, inflamed veins around the anus or lower rectum."" [url:http\://en.wikipedia.org/wiki/Hemorrhoid, url:http\://www.nlm.nih.gov/medlineplus/hemorrhoids.html, url:https\://www.ncbi.nlm.nih.gov/pubmed/19725283]",['NCIthesaurus'],"['ICD10CM:K64', 'ICD9CM:455', 'MESH:D006484', 'NCI:C26792', 'SNOMEDCT_US_2022_09_01:70153002', 'UMLS_CUI:C0019112']",['DOID:9742']
11208,9765,emphysematous cholecystitis,"""A cholecystitis consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues,  where gallbladder wall necrosis causes gas formation in the lumen or wall."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=choleysistitis, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=emphysematous, url:https\://radiopaedia.org/articles/emphysematous-cholecystitis?lang=us]",['NCIthesaurus'],"['MESH:D041882', 'NCI:C35592', 'SNOMEDCT_US_2022_09_01:95558008', 'UMLS_CUI:C0521610']",['DOID:1949']
11209,9766,xanthogranulomatous cholecystitis,"""A cholecystitis characterized by nodules containing lipid-laden macrophages."" [url:https\://pubmed.ncbi.nlm.nih.gov/23991684/, url:https\://pubmed.ncbi.nlm.nih.gov/26981227/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9451', 'MESH:C536762', 'NCI:C35792', 'SNOMEDCT_US_2022_09_01:448286002', 'UMLS_CUI:C1337035']",['DOID:1949']
11216,9778,irritable bowel syndrome,"""An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause."" [url:http\://en.wikipedia.org/wiki/Irritable_bowel_syndrome, url:https\://www.niddk.nih.gov/health-information/digestive-diseases/irritable-bowel-syndrome]",['NCIthesaurus'],"['ICD10CM:K58', 'ICD9CM:564.1', 'KEGG:05321', 'MESH:D043183', 'NCI:C82343', 'SNOMEDCT_US_2022_09_01:155783000', 'UMLS_CUI:C0022104']",['DOID:5295']
11218,9784,trichinosis,"""A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur."" [url:http\://www.dpd.cdc.gov/dpdx/HTML/Trichinellosis.htm]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B75', 'ICD9CM:124', 'MESH:D014235', 'NCI:C85199', 'SNOMEDCT_US_2022_09_01:709018004', 'UMLS_CUI:C0040896']",['DOID:883']
11219,9786,bulbar polio,"""A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty speaking, has symptom difficulty swallowing, and has symptom difficulty chewing."" [url:http\://en.wikipedia.org/wiki/Poliomyelitis]",['DO_infectious_disease_slim'],"['ICD9CM:045.0', 'MESH:D011052', 'SNOMEDCT_US_2022_09_01:64764001', 'UMLS_CUI:C0032372']",['DOID:0050515']
11222,9790,toxocariasis,"""A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions."" [url:http\://www.dpd.cdc.gov/dpdx/HTML/Toxocariasis.htm]","['DO_infectious_disease_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7788', 'ICD10CM:B83.0', 'MESH:D007816', 'NCI:C34758', 'SNOMEDCT_US_2022_09_01:87121004', 'UMLS_CUI:C0023049']",['DOID:883']
11226,9801,tuberculous peritonitis,"""A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation."" [url:http\://books.google.com/books?id=130IVak1eCwC&pg=PA695&lpg=PA695&dq#v=onepage&q=&f=false]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease']","['ICD10CM:A18.31', 'ICD9CM:014.0', 'MESH:D014395', 'SNOMEDCT_US_2022_09_01:197170002', 'UMLS_CUI:C0041325']",['DOID:404']
11227,9808,Goodpasture syndrome,"""An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure."" [url:http\://en.wikipedia.org/wiki/Goodpasteure%27s_syndrome]","['DO_rare_slim', 'NCIthesaurus']","['GARD:2551', 'ICD10CM:M31.0', 'ICD9CM:446.21', 'MESH:D019867', 'NCI:C84566', 'OMIM:233450', 'SNOMEDCT_US_2022_09_01:788613004', 'UMLS_CUI:C0403529']",['DOID:417']
11228,9809,hypersensitivity vasculitis,"""A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers."" [url:https\://rarediseases.info.nih.gov/diseases/7851/hypersensitivity-vasculitis]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7851', 'ICD10CM:M31.0', 'ICD9CM:446.2', 'MESH:D018366', 'NCI:C35119', 'SNOMEDCT_US_2022_09_01:195350001', 'UMLS_CUI:C0151436']",['DOID:1557']
11230,9810,polyarteritis nodosa,"""A vasculitis that is characterized by necrotizing inflammation of medium or small arteries."" [url:https\://en.wikipedia.org/wiki/Polyarteritis_nodosa, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC4029362/]","['DO_rare_slim', 'NCIthesaurus']","['GARD:7360', 'ICD10CM:M30.0', 'ICD9CM:446.0', 'MESH:D010488', 'NCI:C26847', 'SNOMEDCT_US_2022_09_01:195347004', 'UMLS_CUI:C0031036']",['DOID:865']
11236,9828,neonatal abstinence syndrome,"""A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment."" [url:http\://en.wikipedia.org/wiki/Neonatal_abstinence_syndrome]",['NCIthesaurus'],"['ICD10CM:P96.1', 'ICD9CM:779.5', 'MESH:D009357', 'NCI:C35808', 'NCI:C87101', 'SNOMEDCT_US_2022_09_01:414819007', 'UMLS_CUI:C0027609', 'UMLS_CUI:C1332133']",['DOID:0060001']
11242,9840,esotropia,"""A strabismus that is characterized the eye which turns inward toward the nose."" [url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cross-eye+]","['DO_rare_slim', 'NCIthesaurus']","['GARD:8235', 'ICD10CM:H50.0', 'ICD9CM:378.0', 'MESH:D004948', 'NCI:C34596', 'SNOMEDCT_US_2022_09_01:155193001', 'UMLS_CUI:C0014877']",['DOID:540']
11248,9849,Meniere's disease,"""A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss."" [url:http\://en.wikipedia.org/wiki/M%C3%A9ni%C3%A8re%27s_disease]",['DO_rare_slim'],"['GARD:10340', 'ICD10CM:H81.0', 'ICD9CM:386.0', 'MESH:D008575', 'NCI:C185243', 'OMIM:156000', 'SNOMEDCT_US_2022_09_01:194346003', 'UMLS_CUI:C0025281']",['DOID:9848']
11250,9856,congenital syphilis,"""A syphilis that results_in a multisystem infection in the fetus via the placenta."" [url:http\://www.merckmanuals.com/professional/sec19/ch279/ch279d.html]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus']","['ICD10CM:A50', 'ICD9CM:090', 'MESH:D013590', 'NCI:C84649', 'SNOMEDCT_US_2022_09_01:154380005', 'UMLS_CUI:C0039131']",['DOID:4166']
11253,986,alopecia areata,"""An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots."" [url:http\://en.wikipedia.org/wiki/Alopecia_areata]",['DO_rare_slim'],"['EFO:0004192', 'GARD:5782', 'ICD10CM:L63', 'ICD9CM:704.01', 'MESH:D000506', 'OMIM:104000', 'OMIM:610753', 'SNOMEDCT_US_2022_09_01:201131001', 'UMLS_CUI:C0002171']",['DOID:417']
11254,9861,miliary tuberculosis,"""An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs."" [url:http\://en.wikipedia.org/wiki/Disseminated_tuberculosis]","['DO_infectious_disease_slim', 'gram-positive_bacterial_infectious_disease', 'NCIthesaurus']","['ICD10CM:A19', 'ICD9CM:018', 'MESH:D014391', 'NCI:C35086', 'SNOMEDCT_US_2022_09_01:154291001', 'UMLS_CUI:C0041321']",['DOID:0050598']
11257,9869,hereditary fructose intolerance syndrome,"""A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31."" [url:https\://pubmed.ncbi.nlm.nih.gov/20848650/, url:https\://pubmed.ncbi.nlm.nih.gov/9610797/]",['NCIthesaurus'],"['ICD10CM:E74.12', 'ICD9CM:271.2', 'MESH:D005633', 'NCI:C84720', 'OMIM:229600', 'SNOMEDCT_US_2022_09_01:20290005', 'UMLS_CUI:C0016751']",['DOID:2978']
11258,987,alopecia,"""A hypotrichosis that is characterized by a loss of hair from the head or body."" [url:http\://en.wikipedia.org/wiki/Alopecia, url:http\://www.omim.org/entry/109200?search=109200&highlight=109200]",['NCIthesaurus'],"['ICD10CM:L65.9', 'ICD9CM:704.0', 'MESH:D000505', 'NCI:C50575', 'OMIM:PS203655', 'SNOMEDCT_US_2022_09_01:270504008', 'UMLS_CUI:C0002170']",['DOID:4535']
11259,9870,galactosemia,"""A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues."" [url:http\://en.wikipedia.org/wiki/Galactosemia]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:2424', 'ICD10CM:E74.21', 'ICD9CM:271.1', 'MESH:D005693', 'NCI:C84723', 'SNOMEDCT_US_2022_09_01:38177000', 'UMLS_CUI:C0016952']",['DOID:2978']
11261,988,mitral valve prolapse,"""A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole."" [url:http\://en.wikipedia.org/wiki/Mitral_valve_prolapse, url:http\://ghr.nlm.nih.gov/glossary=mitralvalveprolapse, url:http\://www.merckmanuals.com/professional/cardiovascular_disorders/valvular_disorders/mitral_valve_prolapse_mvp.html, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/564/viewAbstract]",['NCIthesaurus'],"['MESH:D008945', 'NCI:C50655', 'OMIM:157700', 'OMIM:607829', 'OMIM:610840', 'SNOMEDCT_US_2022_09_01:8074002', 'UMLS_CUI:C0026267']",['DOID:61']
11262,9880,cardiovascular syphilis,"""A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries."" [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'sexually_transmitted_infectious_disease']","['ICD9CM:093.8', 'SNOMEDCT_US_2022_09_01:111823001', 'UMLS_CUI:C0029751']",['DOID:8200']
11263,9883,Becker muscular dystrophy,"""A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis_in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/19461958, url:https\://www.omim.org/entry/300376]",['DO_rare_slim'],"['GARD:5900', 'OMIM:300376', 'ORDO:98895', 'SNOMEDCT_US_2022_09_01:111501005', 'UMLS_CUI:C0699741']",['DOID:9884']
11264,9884,muscular dystrophy,"""A myopathy is characterized by progressive skeletal muscle weakness degeneration."" [url:http\://en.wikipedia.org/wiki/Muscular_dystrophy, url:http\://www.ninds.nih.gov/disorders/md/md.htm]","['DO_FlyBase_slim', 'DO_rare_slim', 'NCIthesaurus']","['GARD:7922', 'ICD10CM:G71.0', 'MESH:D009136', 'NCI:C84910', 'OMIM:158800', 'OMIM:159050', 'OMIM:309930', 'OMIM:309950', 'OMIM:310000', 'OMIM:310095', 'OMIM:600416', 'SNOMEDCT_US_2022_09_01:155095006', 'UMLS_CUI:C0026850']",['DOID:423']
11269,990,congenital heart block,"""An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/22368629]",['DO_rare_slim'],"['GARD:6164', 'ICD10CM:Q24.6', 'ICD9CM:746.86', 'MESH:C535758', 'OMIM:234700', 'SNOMEDCT_US_2022_09_01:156924006', 'UMLS_CUI:C0149530']",['DOID:0050820']
11270,9903,meibomian cyst,"""A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid."" [url:http\://en.wikipedia.org/wiki/Chalazion]",['NCIthesaurus'],"['ICD10CM:H00.1', 'ICD9CM:373.2', 'MESH:D017043', 'NCI:C26717', 'SNOMEDCT_US_2022_09_01:155172004', 'UMLS_CUI:C0007933']",['DOID:9423']
11273,9909,hordeolum,"""An eyelid disease that is characterized by an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection."" [url:http\://en.wikipedia.org/wiki/Hordeolum]",['NCIthesaurus'],"['ICD10CM:H00.01', 'MESH:D006726', 'NCI:C118722', 'SNOMEDCT_US_2022_09_01:74612003', 'UMLS_CUI:C0019917']",['DOID:530']
11277,992,Omsk hemorrhagic fever,"""A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus, which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum."" [url:http\://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/omsk.htm, url:http\://www.phac-aspc.gc.ca/msds-ftss/msds113e-eng.php, url:http\://www.springerlink.com/content/r2120r64x8x4511q/fulltext.pdf]","['DO_infectious_disease_slim', 'DO_rare_slim', 'tick-borne_infectious_disease']","['GARD:8254', 'ICD10CM:A98.1', 'ICD9CM:065.1', 'MESH:D006481', 'SNOMEDCT_US_2022_09_01:48113006', 'UMLS_CUI:C0019103']",['DOID:934']
11278,9923,developmental coordination disorder,"""A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired."" [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001533.htm]",['NCIthesaurus'],"['ICD10CM:F82', 'ICD9CM:315.4', 'MESH:D019957', 'NCI:C92561', 'SNOMEDCT_US_2022_09_01:27544004', 'UMLS_CUI:C0011757']",['DOID:0060038']
11279,9931,Waterhouse-Friderichsen syndrome,"""An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland."" [url:http\://en.wikipedia.org/wiki/Waterhouse-Friderichsen_syndrome, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=waterhouse]","['DO_rare_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus']","['GARD:9449', 'MESH:D014884', 'NCI:C85225', 'SNOMEDCT_US_2022_09_01:267484005', 'UMLS_CUI:C0043068']",['DOID:9553']
11283,9938,dacryocystitis,"""An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge."" [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923200/]",['NCIthesaurus'],"['ICD10CM:H04.30', 'ICD9CM:375.30', 'MESH:D003607', 'NCI:C34521', 'SNOMEDCT_US_2022_09_01:267738004', 'UMLS_CUI:C0010930']",['DOID:6970']
11289,9952,acute lymphoblastic leukemia,"""A acute leukemia that is characterized by over production of lymphoblasts."" [url:http\://www.cancer.gov/dictionary?CdrID=46332]","['DO_cancer_slim', 'DO_RAD_slim', 'DO_rare_slim', 'NCIthesaurus']","['EFO:0000220', 'GARD:522', 'ICD10CM:C91.00', 'ICD9CM:204.0', 'NCI:C3167', 'NCI:C7055', 'OMIM:247640', 'OMIM:613065', 'ORDO:513', 'SNOMEDCT_US_2022_09_01:128822004', 'UMLS_CUI:C0023449', 'UMLS_CUI:C1335469']",['DOID:12603']
11290,9953,acute biphenotypic leukemia,"""An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens."" [url:https\://www.ncbi.nlm.nih.gov/pubmed/29021517]","['DO_cancer_slim', 'NCIthesaurus']","['ICD10CM:C95.0', 'ICDO:9805/3', 'MESH:D015456', 'NCI:C4673', 'SNOMEDCT_US_2022_09_01:128818009', 'UMLS_CUI:C0023464']",['DOID:12603']
11292,9955,hypoplastic left heart syndrome,"""A congenital heart disease characterized by abnormal development of the left-sided structures of the heart."" [url:http\://en.wikipedia.org/wiki/Hypoplastic_left_heart_syndrome, url:http\://rarediseases.info.nih.gov/gard/6739/hypoplastic-left-heart-syndrome/resources/1, url:http\://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/hypoplastic_left_heart_syndrome.html]","['DO_rare_slim', 'NCIthesaurus']","['GARD:6739', 'ICD10CM:Q23.4', 'ICD9CM:746.7', 'MESH:D018636', 'NCI:C98894', 'OMIM:241550', 'OMIM:614435', 'ORDO:2248', 'SNOMEDCT_US_2022_09_01:62067003', 'UMLS_CUI:C0152101']",['DOID:1682']
11295,9965,toxoplasmosis,"""A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia."" [url:http\://en.wikipedia.org/wiki/Toxoplasmosis]","['DO_infectious_disease_slim', 'NCIthesaurus']","['ICD10CM:B58', 'ICD9CM:130', 'MESH:D014123', 'NCI:C3418', 'SNOMEDCT_US_2022_09_01:266225001', 'UMLS_CUI:C0040558']",['DOID:2113']
11296,9969,carotenemia,"""An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood."" [url:https\://www.ncbi.nlm.nih.gov/books/NBK534878/]",['NCIthesaurus'],"['ICD10CM:E67.1', 'ICD9CM:278.3', 'NCI:C26963', 'OMIM:115300', 'SNOMEDCT_US_2022_09_01:35487009', 'UMLS_CUI:C0154271']",['DOID:0060158']
11298,9970,obesity,"""An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness."" [url:https\://en.wikipedia.org/wiki/Obesity]","['DO_FlyBase_slim', 'NCIthesaurus']","['EFO:0001073', 'ICD10CM:E66.9', 'ICD9CM:278.00', 'MESH:D009765', 'NCI:C159658', 'OMIM:601665', 'SNOMEDCT_US_2022_09_01:5476005', 'UMLS_CUI:C0028754']",['DOID:654']
11301,9973,substance dependence,"""A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance."" [url:http\://en.wikipedia.org/wiki/Drug_dependence]",['NCIthesaurus'],"['NCI:C35458', 'SNOMEDCT_US_2022_09_01:255338002', 'UMLS_CUI:C0439857']",['DOID:303']
11303,9975,cocaine dependence,"""A drug dependence that is a psychological dependency on the regular use of cocaine."" [url:http\://en.wikipedia.org/wiki/Cocaine_dependence]",['NCIthesaurus'],"['ICD10CM:F14.2', 'ICD9CM:304.2', 'MESH:D019970', 'NCI:C34492', 'SNOMEDCT_US_2022_09_01:286934009', 'UMLS_CUI:C0600427']",['DOID:9974']
11304,9976,heroin dependence,"""An opiate dependence that involves the continued use of heroin despite problems related to use of the substance."" [url:http\://en.wikipedia.org/wiki/Opioid_dependence]",['NCIthesaurus'],"['MESH:D006556', 'NCI:C34694', 'SNOMEDCT_US_2022_09_01:191817000', 'UMLS_CUI:C0019337']",['DOID:2559']
11305,9977,hallucinogen dependence,"""A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance."" [url:http\://en.wikipedia.org/wiki/Hallucinogenic_drugs]",['NCIthesaurus'],"['ICD10CM:F16.2', 'ICD9CM:304.5', 'NCI:C34657', 'SNOMEDCT_US_2022_09_01:191847003', 'UMLS_CUI:C0018528']",['DOID:9974']
11307,998,eosinophilia-myalgia syndrome,"""A hypereosinophilic syndrome that is characterized by subacute onset of myalgias and peripheral eosinophilia, followed by chronic neuropathy and skin induration."" [url:https\://rarediseases.org/rare-diseases/eosinophilia-myalgia-syndrome/, url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848710/]",['DO_rare_slim'],"['GARD:6345', 'ICD9CM:710.5', 'MESH:D016603', 'SNOMEDCT_US_2022_09_01:95416007', 'UMLS_CUI:C0085179']",['DOID:999']
11308,9986,orbit lymphoma,"""An orbital cancer that has_material_basis_in some lymphocyte."" [url:https\://en.wikipedia.org/wiki/Orbital_lymphoma]","['DO_rare_slim', 'NCIthesaurus']","['GARD:9719', 'MESH:C537131', 'NCI:C6244', 'SNOMEDCT_US_2022_09_01:13048006', 'UMLS_CUI:C0271333']",['DOID:4143']
11309,9987,orbit sarcoma,"""An orbital cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm."" [url:https\://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6095]",['NCIthesaurus'],"['NCI:C6095', 'SNOMEDCT_US_2022_09_01:699354006', 'UMLS_CUI:C1335131']",['DOID:4143']
11310,9988,tertiary neurosyphilis,"""A tertiary syphilis that results in infection located in brain or located in spinal cord."" [url:http\://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000703.htm]","['DO_infectious_disease_slim', 'gram-negative_bacterial_infectious_disease', 'NCIthesaurus', 'sexually_transmitted_infectious_disease']","['ICD10CM:A52.3', 'ICD9CM:094', 'MESH:D009494', 'NCI:C84935', 'SNOMEDCT_US_2022_09_01:154384001', 'UMLS_CUI:C0027927']",['DOID:8200']
11311,999,hypereosinophilic syndrome,"""A leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs."" [url:https\://en.wikipedia.org/wiki/Hypereosinophilic_syndrome, url:https\://www.mayoclinic.org/diseases-conditions/hypereosinophilic-syndrome/symptoms-causes/syc-20352854]",['DO_rare_slim'],"['GARD:2804', 'ICD10CM:D72.1', 'ICD9CM:288.3', 'MESH:D004802', 'ORDO:168956', 'SNOMEDCT_US_2022_09_01:418928000', 'UMLS_CUI:C0014457']",['DOID:9500']
11312,9993,hypoglycemia,"""A glucose metabolism disease that is characterized by abnormally low levels of blood glucose."" [url:https\://www.niddk.nih.gov/health-information/diabetes/overview/preventing-problems/low-blood-glucose-hypoglycemia]",['NCIthesaurus'],"['ICD10CM:E16.2', 'ICD9CM:251.2', 'MESH:D007003', 'NCI:C3126', 'SNOMEDCT_US_2022_09_01:154691006', 'UMLS_CUI:C0020615']",['DOID:4194']
11313,9997,peripartum cardiomyopathy,"""A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery."" [url:https\://pubmed.ncbi.nlm.nih.gov/30575651/, url:https\://www.hopkinsmedicine.org/health/conditions-and-diseases/peripartum-cardiomyopathy]",['DO_rare_slim'],"['GARD:220', 'ICD10CM:O90.3', 'ICD9CM:674.5', 'NCI:C171602', 'UMLS_CUI:C0877208']",['DOID:12930']