concept_name;concept_code;vocabulary_id;domain_id;concept_class_id;standard_concept;valid_start_date;valid_end_date;invalid_reason "Pipecolic acidemia";"34";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal renal tubular acidosis";"18";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Medulloepithelioma of the central nervous system";"251883";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Normokalemic periodic paralysis";"680";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leishmaniasis";"507";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ependymoblastoma";"251880";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic respiratory distress with surfactant metabolism deficiency";"217566";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal acute respiratory distress due to SP-B deficiency";"217563";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary hypotrichosis with recurrent skin vesicles";"217407";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome";"652487";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa";"652510";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "2-hydroxyglutaric aciduria";"19";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fumaric aciduria";"24";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Astrocytoma";"94";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Butyrylcholinesterase deficiency";"132";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary thrombophilia due to congenital antithrombin deficiency";"82";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of glutamine metabolism";"289841";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brugada syndrome";"130";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Penile agenesis";"49";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amoebiasis due to free-living amoebae";"68";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diphyllobothriasis";"128";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Strongyloidiasis";"76";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atresia of urethra";"105";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gorham-Stout disease";"73";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anaplastic thyroid carcinoma";"142";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Parathyroid carcinoma";"143";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dyschromatosis symmetrica hereditaria";"41";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Antisynthetase syndrome";"81";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Angelman syndrome";"72";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CHARGE syndrome";"138";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ataxia-telangiectasia";"100";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked agammaglobulinemia";"47";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blue cone monochromatism";"16";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-1-antitrypsin deficiency";"60";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blepharophimosis-ptosis-epicanthus inversus syndrome";"126";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "BOR syndrome";"107";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aicardi syndrome";"50";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "47,XYY syndrome";"8";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pentasomy X";"11";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal adrenoleukodystrophy";"44";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alkaptonuria";"56";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Succinic semialdehyde dehydrogenase deficiency";"22";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mevalonic aciduria";"29";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary orotic aciduria";"30";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrocallosal syndrome";"36";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isovaleric acidemia";"33";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tetrasomy X";"9";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diamond-Blackfan anemia";"124";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bloom syndrome";"125";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Argininemia";"90";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Argininosuccinic aciduria";"23";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenosine monophosphate deaminase deficiency";"45";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alport syndrome";"63";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked recessive ocular albinism";"54";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fanconi anemia";"84";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proximal spinal muscular atrophy";"70";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amyloidosis";"69";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3";"62";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Behçet disease";"117";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to aldolase A deficiency";"57";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenylosuccinate lyase deficiency";"46";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "6-pyruvoyl-tetrahydropterin synthase deficiency";"13";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fatal infantile lactic acidosis with methylmalonic aciduria";"17";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Budd-Chiari syndrome";"131";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Campomelic dysplasia";"140";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bazex-Dupré-Christol syndrome";"113";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial abdominal aortic aneurysm";"86";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital bilateral absence of vas deferens";"48";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Barth syndrome";"111";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "48,XXYY syndrome";"10";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic beryllium disease";"133";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3C syndrome";"7";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vitamin B12-unresponsive methylmalonic acidemia";"27";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Antley-Bixler syndrome";"83";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aicardi-Goutières syndrome";"51";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acromesomelic dysplasia, Maroteaux type";"40";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alström syndrome";"64";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CHILD syndrome";"139";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3-methylcrotonyl-CoA carboxylase deficiency";"6";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3-hydroxy-3-methylglutaric aciduria";"20";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vitamin B12-responsive methylmalonic acidemia";"28";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leber congenital amaurosis";"65";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lynch syndrome";"144";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bardet-Biedl syndrome";"110";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amoebiasis due to Entamoeba histolytica";"67";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Propionic acidemia";"35";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CODAS syndrome";"1458";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital disorder of glycosylation";"137";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Frontotemporal dementia";"282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carnitine-acylcarnitine translocase deficiency";"159";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cystathioninuria";"212";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation";"652514";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft palate-congenital heart defect-intellectual disability syndrome";"652519";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary breast and/or ovarian cancer syndrome";"145";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary elliptocytosis";"288";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Castleman disease";"160";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vascular Ehlers-Danlos syndrome";"286";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypermobile Ehlers-Danlos syndrome";"285";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epstein-Barr Virus-related tumor";"289638";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-rhizomelic chondrodysplasia punctata";"176";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chordoma";"178";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pituitary carcinoma";"300385";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sagliker syndrome";"300493";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe combined immunodeficiency due to adenosine deaminase deficiency";"277";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dopamine beta-hydroxylase deficiency";"230";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diphallia";"227";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chromomycosis";"182";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Demodicidosis";"283";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cyclosporiasis";"210";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Erosive pustular dermatosis of the scalp";"222";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Crandall syndrome";"202";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Woolly hair";"170";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ringed hair disease";"169";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Loose anagen syndrome";"168";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Digestive duplication";"238";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Duplication of urethra";"237";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arrhythmogenic right ventricular cardiomyopathy";"247";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dyschromatosis universalis hereditaria";"241";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial cylindromatosis";"211";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sickle cell anemia";"232";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wolf-Hirschhorn syndrome";"280";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked hypohidrotic ectodermal dysplasia";"181";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Monosomy 5p";"281";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cystinuria";"214";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chédiak-Higashi syndrome";"167";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cornelia de Lange syndrome";"199";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trisomy 9p";"236";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Darier disease";"218";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nager syndrome";"245";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cohen syndrome";"193";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated corpus callosum agenesis";"200";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Postaxial acrofacial dysostosis";"246";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dubowitz syndrome";"235";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dyggve-Melchior-Clausen disease";"239";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classical Ehlers-Danlos syndrome";"287";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial isolated dilated cardiomyopathy";"154";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cockayne syndrome";"191";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy";"166";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dermatomyositis";"221";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sporadic Creutzfeldt-Jakob disease";"204";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuronal ceroid lipofuscinosis";"216";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Eosinophilic granulomatosis with polyangiitis";"183";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fibrous dysplasia of bone";"249";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Citrullinemia";"187";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cholera";"173";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alveolar echinococcosis";"284";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dubin-Johnson syndrome";"234";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bernard-Soulier syndrome";"274";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary sclerosing cholangitis";"171";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital stationary night blindness";"215";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Choroideremia";"180";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia";"253";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Differentiated thyroid carcinoma";"146";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carnitine palmitoyltransferase II deficiency";"157";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cherubism";"184";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Duane retraction syndrome";"233";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Léri-Weill dyschondrosteosis";"240";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY complete gonadal dysgenesis";"242";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nasopharyngeal carcinoma";"150";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coats disease";"190";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metaphyseal chondrodysplasia, Schmid type";"174";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary hyperferritinemia-cataract syndrome";"163";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondylometaphyseal dysplasia";"254";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple epiphyseal dysplasia";"251";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Frontonasal dysplasia";"250";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neutral lipid storage disease";"165";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Systemic primary carnitine deficiency";"158";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial aortic dissection";"229";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Denys-Drash syndrome";"220";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Birdshot chorioretinopathy";"179";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arbovirus fever";"344";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) 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"Glioblastoma";"360";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperprolinemia type 1";"419";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic Hodgkin lymphoma";"391";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign familial infantile epilepsy";"306";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital factor X deficiency";"328";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pure autonomic failure";"441";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Frasier syndrome";"347";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hypocalciuric hypercalcemia";"405";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital factor XI deficiency";"329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant hypocalcemia";"428";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XX testicular difference of sex development";"393";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked acrogigantism";"300373";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic hiccup";"396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Apparent mineralocorticoid excess";"320";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hepatic cystic hamartoma";"386";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidermodysplasia verruciformis";"302";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tick-borne encephalitis";"297";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute erythroid 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due to phosphorylase kinase deficiency";"370";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Homocystinuria due to methylene tetrahydrofolate reductase deficiency";"395";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated glycerol kinase deficiency";"408";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital rubella syndrome";"290";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital varicella syndrome";"291";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fructose-1,6-bisphosphatase deficiency";"348";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant hyperthermia of anesthesia";"423";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anti-glomerular basement membrane disease";"375";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Exstrophy-epispadias complex";"322";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital factor XII deficiency";"330";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital herpes simplex virus infection";"293";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gerstmann-Straussler-Scheinker syndrome";"356";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome";"415";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital factor V deficiency";"326";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hypoaldosteronism";"427";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial Mediterranean fever";"342";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Holt-Oram 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"Apolipoprotein A-I deficiency";"425";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple osteochondromas";"321";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary hyperoxaluria";"416";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycine encephalopathy";"407";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pediatric-onset glaucoma of genetic origin";"359";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial partial epilepsy";"309";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial glucocorticoid deficiency";"361";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital enterovirus infection";"292";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Junctional epidermolysis 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aneurysm";"652678";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Miller-Dieker syndrome";"531";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic subglottic stenosis";"652681";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked lissencephaly with abnormal genitalia";"452";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrophagic myofasciitis";"592";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoinflammatory syndrome with acne and/or hidradenitis suppurativa";"653434";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphocytic mastitis";"653698";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Toxic epidermal necrolysis";"537";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Centronuclear myopathy";"595";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MODY";"552";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital myasthenic syndrome";"590";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diffuse large B-cell lymphoma";"544";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute megakaryoblastic leukemia";"518";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute monoblastic/monocytic leukemia";"514";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myelomonocytic leukemia";"517";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Graham Little-Piccardi-Lassueur syndrome";"505";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Furuncular myiasis";"591";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isosporiasis";"472";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary leiomyomatosis and renal cell cancer";"523";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lipoid proteinosis";"530";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial keratoacanthoma";"493";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Keratosis pilaris atrophicans";"498";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired ichthyosis";"454";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Omphalomesenteric cyst";"490";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Urachal cyst";"488";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peripartum cardiomyopathy";"563";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kimura 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myopathy";"596";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Incontinentia pigmenti";"464";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal hemochromatosis";"446";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proximal myotonic myopathy";"606";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary fructose intolerance";"469";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trichorhinophalangeal syndrome type 2";"502";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "KID syndrome";"477";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leigh syndrome";"506";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiminicore myopathy";"598";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucopolysaccharidosis type 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proteinosis";"747";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperammonemia due to N-acetylglutamate synthase deficiency";"927";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paris-Trousseau thrombocytopenia";"851";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked combined immunodeficiency due to SASH3 deficiency";"653751";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glanzmann thrombasthenia";"849";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mixed connective tissue disease";"809";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Jansen-de Vries syndrome";"653767";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Zollinger-Ellison syndrome";"913";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital nephrotic syndrome, Finnish type";"839";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile Refsum disease";"772";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Shwachman-Diamond syndrome";"811";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult-onset Still disease";"829";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SAPHO syndrome";"793";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial exudative vitreoretinopathy";"891";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Scott syndrome";"806";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 14 syndrome";"1440";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency";"653880";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primitive portal vein thrombosis";"854";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atrophic papulosis";"656071";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary myelofibrosis";"824";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Q fever";"781";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wagner disease";"898";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sporotrichosis";"826";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tungiasis";"879";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fetal and neonatal alloimmune thrombocytopenia";"853";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked thrombocytopenia with normal platelets";"852";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuroendocrine neoplasm";"877";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Generalized glucocorticoid resistance syndrome";"786";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyomyositis";"764";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Reynolds syndrome";"779";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Susac syndrome";"838";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cutaneous small vessel vasculitis";"889";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rett syndrome";"778";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Von Hippel-Lindau disease";"892";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amyotrophic lateral sclerosis";"803";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Down 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"Refsum disease";"773";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aarskog-Scott syndrome";"915";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Smith-Magenis syndrome";"819";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Encephalopathy due to sulfite oxidase deficiency";"833";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyruvate dehydrogenase deficiency";"765";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tetrasomy 12p";"884";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pycnodysostosis";"763";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Free sialic acid storage disease";"834";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Schizencephaly";"799";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Silver-Russell 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"Acatalasemia";"926";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rhabdomyosarcoma";"780";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tay-Sachs disease";"845";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rabies";"770";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Waardenburg-Shah syndrome";"897";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Seckel syndrome";"808";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lown-Ganong-Levine syndrome";"844";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-thalassemia-X-linked intellectual disability syndrome";"847";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lujan-Fryns syndrome";"776";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Werner 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deficiency";"911";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sneddon syndrome";"820";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary spherocytosis";"822";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Xeroderma pigmentosum";"910";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Smith-Lemli-Opitz syndrome";"818";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenitally uncorrected transposition of the great arteries";"860";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Axenfeld-Rieger syndrome";"782";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tyrosinemia type 1";"882";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Von Willebrand disease";"903";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hereditary thrombophilia";"217454";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to DOCK8 deficiency";"217390";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aortic arch defects";"1132";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "17p13.3 microduplication syndrome";"217385";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Abnormal origin of the pulmonary artery";"1138";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation";"217399";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive polyneuropathy with bilateral striatal necrosis";"217396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary valve agenesis";"982";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins";"217371";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "19q13.11 microdeletion syndrome";"217346";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Absence of the pulmonary artery";"980";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurodegenerative syndrome due to cerebral folate transport deficiency";"217382";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aneurysm of sinus of Valsalva";"1054";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coronary artery congenital malformation";"1081";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microduplication Xp11.22p11.23 syndrome";"217377";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial disease with dilated cardiomyopathy";"217613";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy";"217616";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome associated with dilated cardiomyopathy";"217619";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sensorineural deafness with dilated cardiomyopathy";"217622";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dilated cardiomyopathy";"217604";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial dilated cardiomyopathy";"217607";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuromuscular disease with dilated cardiomyopathy";"217610";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial disease with hypertrophic cardiomyopathy";"217587";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anisakiasis";"1070";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "D-glyceric aciduria";"941";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked Alport syndrome-diffuse leiomyomatosis";"1018";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated lissencephaly type 1 without known genetic defects";"1084";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microlissencephaly";"1083";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated anencephaly/exencephaly";"1048";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Developmental and speech delay due to SOX5 deficiency";"313892";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "12p12.1 microdeletion syndrome";"313884";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "FGFR2-related bent bone dysplasia";"313855";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic achalasia";"930";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Albinism-deafness syndrome";"998";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aniridia-cerebellar ataxia-intellectual disability syndrome";"1065";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arrhinia-choanal atresia-microphthalmia syndrome";"1135";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurogenic arthrogryposis multiplex congenita";"1143";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset autosomal dominant Alzheimer disease";"1020";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary agenesis";"984";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenine phosphoribosyltransferase deficiency";"976";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sideroblastic anemia";"1047";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acheiropodia";"931";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary neurocutaneous malformation";"1062";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vein of Galen aneurysmal malformation";"1053";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital left ventricular aneurysm";"1055";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic variegated aneuploidy syndrome";"1052";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metaphyseal anadysplasia";"1040";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hydrops fetalis";"1041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arthrogryposis multiplex congenita";"1037";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aprosencephaly cerebellar dysgenesis";"1126";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ocular motor apraxia, Cogan type";"1125";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Radial deficiency-tibial hypoplasia syndrome";"1121";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lung agenesis-heart defect-thumb anomalies syndrome";"1120";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ulnar hypoplasia-split foot syndrome";"1122";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aplasia cutis congenita-intestinal lymphangiectasia syndrome";"1116";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PAGOD syndrome";"991";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "AREDYLD syndrome";"1133";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked mandibulofacial dysostosis";"1131";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ramos-Arroyo syndrome";"1051";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malonic aciduria";"943";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arachnodactyly-abnormal ossification-intellectual disability syndrome";"1129";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Caudal appendage-deafness syndrome";"1123";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arachnodactyly-intellectual disability-dysmorphism syndrome";"1130";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aplasia cutis congenita";"1114";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome";"1101";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated arrhinia";"1134";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tufted angioma";"1063";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome";"1171";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary atresia with ventricular septal defect";"1207";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy";"217591";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome associated with hypertrophic cardiomyopathy";"217595";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-familial hypertrophic cardiomyopathy";"217598";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hypertrophic cardiomyopathy";"217569";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease with hypertrophic cardiomyopathy";"217572";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lysosomal disease with hypertrophic cardiomyopathy";"217581";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-familial restrictive cardiomyopathy";"217720";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital factor XIII deficiency";"331";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lysosomal disease with restrictive cardiomyopathy";"217638";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial restrictive cardiomyopathy";"217635";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign atrophic papulosis";"656085";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital fibrinogen deficiency";"335";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Restrictive cardiomyopathy";"217632";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 19 syndrome";"1443";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-familial dilated cardiomyopathy";"217629";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unclassified cardiomyopathy";"217678";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital alpha2-antiplasmin deficiency";"79";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial isolated arrhythmogenic right ventricular dysplasia";"217656";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Limited cutaneous systemic sclerosis";"220402";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Limited systemic sclerosis";"220407";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic camptocormia";"1320";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Balantidiasis";"1223";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Best vitelliform macular dystrophy";"1243";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TMEM70-related mitochondrial encephalo-cardio-myopathy";"1194";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Opsoclonus-myoclonus syndrome";"1183";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cryptogenic organizing pneumonia";"1302";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Medullary thyroid carcinoma";"1332";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitral atresia";"1205";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Segmental spinal dysgenesis";"656126";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Caffey disease";"1310";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Allergic bronchopulmonary aspergillosis";"1164";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aspergillosis";"1163";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Small bowel atresia";"1201";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset cerebellar ataxia with retained tendon reflexes";"1177";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital atransferrinemia";"1195";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complete atrioventricular septal defect";"1329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Botulism";"1267";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial prostate cancer";"1331";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "C syndrome";"1308";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ascher syndrome";"1253";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blepharonasofacial malformation syndrome";"1252";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachymorphism-onychodysplasia-dysphalangism syndrome";"1292";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachyolmia";"1293";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Branchioskeletogenital syndrome";"1299";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant popliteal pterygium syndrome";"1300";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachytelephalangy-dysmorphism-Kallmann syndrome";"1295";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lambert syndrome";"1296";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Branchio-oculo-facial syndrome";"1297";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly-arterial hypertension syndrome";"1276";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly-elbow wrist dysplasia syndrome";"1275";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Camptodactyly-taurinuria syndrome";"1325";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Camptodactyly syndrome, Guadalajara type 2";"1326";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Camptodactyly syndrome, Guadalajara type 1";"1327";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Camurati-Engelmann disease";"1328";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome";"1321";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Camptodactyly-joint contractures-facial skeletal defects syndrome";"1323";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Symmetrical thalamic calcifications";"1314";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Campomelia, Cumming type";"1318";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Camptobrachydactyly";"1319";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Feingold syndrome";"1305";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal limb deficiencies-micrognathia syndrome";"1307";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile choroidocerebral calcification syndrome";"1313";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinal atrophy-ophthalmoplegia-pyramidal syndrome";"1217";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome";"1192";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aymé-Gripp syndrome";"1272";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome";"1277";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly-nystagmus-cerebellar ataxia syndrome";"1246";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Triatrial heart";"1463";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical coarctation of aorta";"1456";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aorta coarctation";"1457";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cogan syndrome";"1467";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Semilobar holoprosencephaly";"220386";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diffuse cutaneous systemic sclerosis";"220393";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital intrinsic factor deficiency";"332";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated complex III deficiency";"1460";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adrenocortical carcinoma";"1501";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Criss-cross heart";"1461";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coffin-Siris syndrome";"1465";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cooper-Jabs syndrome";"1488";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic mucocutaneous candidiasis";"1334";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charlie M syndrome";"1406";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short rib-polydactyly syndrome";"1505";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chondrodysplasia-difference of sex development syndrome";"1422";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Interatrial communication";"1478";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gonococcal conjunctivitis";"1482";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paroxysmal dyskinesia";"1431";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Whooping cough";"1489";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 22 syndrome";"1446";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atrial standstill";"1344";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Heart defects-limb shortening syndrome";"1354";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carey-Fineman-Ziter syndrome";"1358";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 7 syndrome";"1449";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleidorhizomelic syndrome";"1453";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Joubert syndrome with hepatic defect";"1454";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign hereditary chorea";"1429";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Greenberg dysplasia";"1426";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebrocostomandibular syndrome";"1393";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Night blindness-skeletal anomalies-dysmorphism syndrome";"1390";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cortical blindness-intellectual disability-polydactyly syndrome";"1389";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Catel-Manzke syndrome";"1388";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cataract-intellectual disability-hypogonadism syndrome";"1387";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cataract-intellectual disability-anal atresia-urinary defects syndrome";"1381";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cataract-nephropathy-encephalopathy syndrome";"1380";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cataract-microcornea syndrome";"1377";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Heart-hand syndrome type 2";"1350";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital heart defect-round face-developmental delay syndrome";"1355";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome";"1352";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Heart-hand syndrome type 3";"1342";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cardiomyopathy-cataract-hip spine disease syndrome";"1345";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Heart defect-tongue hamartoma-polysyndactyly syndrome";"1338";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cardiofaciocutaneous syndrome";"1340";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperkeratosis-hyperpigmentation syndrome";"1336";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked complicated corpus callosum dysgenesis";"1497";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vici syndrome";"1493";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome";"1495";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coxopodopatellar syndrome";"1509";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Crane-Heise syndrome";"1512";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thin ribs-tubular bones-dysmorphism syndrome";"1506";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coxoauricular syndrome";"1508";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive Robinow syndrome";"1507";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cantú syndrome";"1517";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SPECC1L-related hypertelorism syndrome";"1519";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniofrontonasal dysplasia";"1520";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniodiaphyseal dysplasia";"1513";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniofrontonasal dysplasia-Poland anomaly syndrome";"1521";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal coloboma syndrome";"1475";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carney complex";"1359";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atrial septal defect-atrioventricular conduction defects syndrome";"1479";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cataract-deafness-hypogonadism syndrome";"1383";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal recessive chondrodysplasia";"1423";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arthrogryposis-hyperkeratosis syndrome, lethal form";"1485";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cholestasis-pigmentary retinopathy-cleft palate syndrome";"1415";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Celiac disease-epilepsy-cerebral calcification syndrome";"1459";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Univentricular heart";"1464";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 17 syndrome";"1441";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CINCA syndrome";"1451";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cysticercosis";"1560";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cardiac diverticulum";"1686";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrothrombocytopenia with mitral valve insufficiency";"220448";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated hereditary giant platelet disorder";"220452";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Quebec platelet disorder";"220436";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bleeding diathesis due to thromboxane synthesis deficiency";"220443";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare cardiac rhythm disease";"218436";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-genetic cardiac rhythm disease";"218439";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Xeroderma pigmentosum-Cockayne syndrome complex";"220295";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gyrate atrophy of choroid and retina";"414";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dent disease";"1652";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PBX1-related congenital anomalies of kidney and urinary tract syndrome";"656130";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign focal seizures of adolescence";"1544";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile bilateral striatal necrosis";"1576";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic diarrhea with villous atrophy";"1670";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic pulmonary artery dilatation";"1676";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "22q11.2 duplication syndrome";"1727";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "XY type gonadal dysgenesis-associated anomalies syndrome";"1770";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dyskeratosis congenita";"1775";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial dysautonomia";"1764";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diencephalic syndrome";"1672";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniosynostosis";"1531";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dihydropyrimidine dehydrogenase deficiency";"1675";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dermatitis herpetiformis";"1656";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diphtheria";"1679";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal deletion 17q";"1597";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal deletion 13q";"1590";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Monosomy 13q14";"1587";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3q13 microdeletion syndrome";"1621";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deletion 5q35";"1627";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trisomy 12p";"1699";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-distal duplication 10q";"1695";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Currarino syndrome";"1552";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-distal deletion 10q";"1581";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arterial dissection-lentiginosis syndrome";"1682";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fibular dimelia-diplopodia syndrome";"1757";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Caudal duplication";"1756";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dyschondrosteosis-nephritis syndrome";"1765";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysequilibrium syndrome";"1766";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Temtamy syndrome";"1777";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thakker-Donnai syndrome";"1780";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "45,X/46,XY mixed gonadal dysgenesis";"1772";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrofrontofacionasal dysostosis";"1784";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysosteosclerosis";"1782";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypomandibular faciocranial dysostosis";"1790";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "2q24 microdeletion syndrome";"1617";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "1p36 deletion syndrome";"1606";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculocerebrocutaneous syndrome";"1647";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dentin dysplasia";"1653";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dermatoosteolysis, Kirghizian type";"1657";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Absence of fingerprints-congenital milia syndrome";"1658";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dermatoleukodystrophy";"1659";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dermoodontodysplasia";"1660";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked corneal dermoid";"1661";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Restrictive dermopathy";"1662";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wolcott-Rallison syndrome";"1667";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniotelencephalic dysplasia";"1528";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniofacial-deafness-hand syndrome";"1529";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniometaphyseal dysplasia";"1522";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cranio-osteoarthropathy";"1525";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculomaxillofacial dysostosis";"1794";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Frontofacionasal dysplasia";"1791";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 19q";"1717";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic trisomy 2";"1723";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic trisomy 20";"1724";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic trisomy 7";"1747";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Symbrachydactyly of hands and feet";"1570";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spondylocostal dysostosis";"1797";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniomicromelic syndrome";"1524";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diprosopus";"1681";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Müllerian derivatives-lymphangiectasia-polydactyly syndrome";"1655";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysmorphism-cleft palate-loose skin syndrome";"1779";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial caudal dysgenesis";"1768";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniosynostosis, Boston type";"1541";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Facial dysmorphism-shawl scrotum-joint laxity syndrome";"1778";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thoraco-abdominal enteric duplication";"1759";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cryptococcosis";"1546";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distomatosis";"1685";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Common variable immunodeficiency";"1572";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrofacial dysostosis, Palagonia type";"1787";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Homocystinuria without methylmalonic aciduria";"622";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laron syndrome with immunodeficiency";"220465";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Attenuated familial adenomatous polyposis";"220460";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hereditary hemochromatosis";"220489";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Joubert syndrome with renal defect";"220497";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Joubert syndrome with ocular defect";"220493";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphangioleiomyomatosis";"538";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pterin-4 alpha-carbinolamine dehydratase deficiency";"1578";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fatal infantile cytochrome C oxidase deficiency";"1561";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe hereditary thrombophilia due to congenital protein C deficiency";"745";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe combined immunodeficiency due to CORO1A deficiency";"228003";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic CD4 lymphocytopenia";"228000";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-Hodgkin lymphoma";"547";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune polyendocrinopathy type 4";"227990";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Testicular seminomatous germ cell tumor";"842";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune polyendocrinopathy type 3";"227982";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive optic atrophy, OPA7 type";"227976";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Yolk sac tumor";"876";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Toxic oil syndrome";"227972";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extragonadal teratoma";"883";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fundus albipunctatus";"227796";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coccidioidomycosis";"228123";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fusariosis";"228119";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hughes-Stovin syndrome";"228116";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anal fistula";"228113";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome";"228012";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary cutaneous CD30+ T-cell lymphoproliferative disease";"541";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Burkitt lymphoma";"543";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-cupped ears syndrome";"656135";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary breast cancer";"227535";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple system atrophy, cerebellar type";"227510";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute lymphoblastic leukemia";"513";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Esthesioneuroblastoma";"1957";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudoxanthoma elasticum";"758";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic transient congenital hypothyroidism";"226316";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital hypothyroidism due to maternal intake of antithyroid drugs";"226313";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Larsen syndrome";"503";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nephrogenic diabetes insipidus";"223";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cerebellar ataxia";"1172";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial pancreatic carcinoma";"1333";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polyvalvular heart disease syndrome";"228410";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "8q12 microduplication syndrome";"228399";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "2q23.1 microdeletion syndrome";"228402";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "5q14.3 microdeletion syndrome";"228384";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rasmussen subacute encephalitis";"1929";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant hypohidrotic ectodermal dysplasia";"1810";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Frontal encephalocele";"1931";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ebstein malformation of the tricuspid valve";"1880";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Evans syndrome";"1959";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital lobar emphysema";"1928";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early infantile epileptic encephalopathy";"1934";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myoclonic-astatic epilepsy";"1942";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign familial neonatal epilepsy";"1949";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TRIM32-related limb-girdle muscular dystrophy R8";"1878";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculogastrointestinal muscular dystrophy";"1876";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epilepsy-microcephaly-skeletal dysplasia syndrome";"1948";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lipodystrophy due to peptidic growth factors deficiency";"1979";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome";"1969";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Flat face-microstomia-ear anomaly syndrome";"1968";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Faciocardiorenal syndrome";"1973";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Frontometaphyseal dysplasia";"1826";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bilateral striopallidodentate calcinosis";"1980";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal osteosclerotic bone dysplasia";"1832";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal agenesis, bilateral";"1848";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acromelic frontonasal dysplasia";"1827";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloperipheral dysplasia-short ulna syndrome";"1856";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloenchondrodysplasia";"1855";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Herpes simplex virus encephalitis";"1930";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rolandic epilepsy";"1945";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ectopia lentis-chorioretinal dystrophy-myopia syndrome";"1884";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ehrlichiosis";"1902";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary arteriovenous malformation";"2038";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital aortopulmonary window";"2037";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare sleep disorder";"68354";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coronary arterial fistula";"2041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital systemic arteriovenous fistula";"2039";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fibrosarcoma";"2030";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Solitary fibrous tumor";"2126";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Virus-associated trichodysplasia spinulosa";"228379";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 2B5";"228374";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Foodborne botulism";"228371";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "White fibrous papulosis of the neck";"228290";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudoxanthoma elasticum-like papillary dermal elastolysis";"228293";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mid-dermal elastolysis";"228299";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carnitine palmitoyl transferase II deficiency, myopathic form";"228302";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carnitine palmitoyl transferase II deficiency, severe infantile form";"228305";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carnitine palmitoyl transferase II deficiency, neonatal form";"228308";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune hemolytic anemia, cold type";"228312";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CACH syndrome";"135";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Elastofibroma dorsi";"228243";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired pseudoxanthoma elasticum";"228247";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Elastoma";"228254";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Papular elastorrhexis";"228264";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary anetoderma";"228272";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial anetoderma";"228277";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired cutis laxa";"228285";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome";"228190";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired dermis elastic tissue disorder";"228218";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic dermis elastic tissue disorder";"228215";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired dermis elastic tissue disorder with increased elastic tissue";"228224";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemoglobin C disease";"2132";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemoglobin E disease";"2133";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epstein-Barr virus-associated malignant lymphoproliferative disorder";"289644";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hartnup disease";"2116";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alternating hemiplegia of childhood";"2131";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GTP cyclohydrolase I deficiency";"2102";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital respiratory-biliary fistula";"2040";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune hepatitis";"2137";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Guillain-Barré syndrome";"2103";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Eosinophilic gastroenteritis";"2070";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft palate";"2014";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fraser syndrome";"2052";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated hemihyperplasia";"2128";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemimelia";"2130";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hip dysplasia, Beukes type";"2114";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hartsfield syndrome";"2117";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "HEC syndrome";"2119";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diffuse neonatal hemangiomatosis";"2123";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GMS syndrome";"2090";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multinodular goiter-cystic kidney-polydactyly syndrome";"2091";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Focal dermal hypoplasia";"2092";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acromesomelic dysplasia, Grebe type";"2098";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gorlin-Chaudhry-Moss syndrome";"2095";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Grant syndrome";"2097";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Grubben-de Cock-Borghgraef syndrome";"2101";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gastrocutaneous syndrome";"2069";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blepharo-cheilo-odontic syndrome";"1997";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft lip-retinopathy syndrome";"1995";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pai syndrome";"1993";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Femoral-facial syndrome";"1988";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hirschsprung disease-type D brachydactyly syndrome";"2150";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mowat-Wilson syndrome";"2152";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome";"2153";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-epilepsy syndrome";"2076";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to hepatic glycogen synthase deficiency";"2089";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Essential fructosuria";"2056";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fryns-Smeets-Thiry syndrome";"2058";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive non-infectious anterior vertebral fusion";"2062";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft palate-short stature-vertebral anomalies syndrome";"2015";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hirschsprung disease-ganglioneuroblastoma syndrome";"2151";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Undifferentiated pleomorphic sarcoma";"2023";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Filariasis";"2034";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kaposiform hemangioendothelioma";"2122";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gamma-aminobutyric acid transaminase deficiency";"2066";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fanconi-Bickel syndrome";"2088";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Optic pathway glioma";"2086";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aortic arch interruption";"2299";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Histidinemia";"2157";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperlysinemia";"2203";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dicarboxylic aminoaciduria";"2195";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methylcobalamin deficiency type cblG";"2170";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oligomeganephronia";"2260";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired dermis elastic tissue disorder with decreased elastic tissue";"228221";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Linear focal elastosis";"228236";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Late-onset focal dermal elastosis";"228227";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple sclerosis variant";"228145";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic ventricular fibrillation, non Brugada type";"228140";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Baló concentric sclerosis";"228165";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Marburg acute multiple sclerosis";"228157";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2N";"228174";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant striatal neurodegeneration";"228169";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Heart-hand syndrome";"228184";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2M";"228179";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset generalized limb-onset dystonia";"256";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute pandysautonomia";"231457";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paraparetic variant of Guillain-Barré syndrome";"231445";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute pure sensory neuropathy";"231450";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Narcolepsy type 1";"2073";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome";"231426";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Regional variant of Guillain-Barré syndrome";"231416";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Functional variant of Guillain-Barré syndrome";"231419";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-thalassemia-myelodysplastic syndrome";"231401";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Insulin-resistance syndrome type B";"2298";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired hypertrichosis lanuginosa";"2221";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Holoprosencephaly";"2162";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital short bowel syndrome";"2301";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Jacobsen syndrome";"2308";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Joubert syndrome with oculorenal defect";"2318";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Asbestos intoxication";"2302";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transient familial neonatal hyperbilirubinemia";"2312";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant hyper-IgE syndrome";"2314";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hydranencephaly";"2177";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ICF syndrome";"2268";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spondylocostal dysostosis";"2311";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maternal phenylketonuria";"2209";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Jung syndrome";"2321";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile systemic hyalinosis";"2176";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MELAS";"550";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypodontia-dysplasia of nails syndrome";"2228";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypertryptophanemia";"2224";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary hypergonadotropic hypogonadism-partial alopecia syndrome";"2232";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome";"2230";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome";"2229";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial isolated hypoparathyroidism";"2238";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypoparathyroidism-sensorineural deafness-renal disease syndrome";"2237";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome";"2235";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidermolytic palmoplantar keratoderma";"2199";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial articular hypermobility syndrome";"2295";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juberg-Hayward syndrome";"2319";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Johnson neuroectodermal syndrome";"2316";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Johanson-Blizzard syndrome";"2315";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Absence deformity of leg-cataract syndrome";"2310";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pachyonychia congenita";"2309";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IVIC syndrome";"2307";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysmorphism-short stature-deafness-difference of sex development syndrome";"2282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome";"2278";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital velopharyngeal incompetence";"2291";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuronal intranuclear inclusion disease";"2289";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microvillus inclusion disease";"2290";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fused mandibular incisors";"2287";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary basilar invagination";"2285";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hydrocephalus-obesity-hypogonadism syndrome";"2183";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hydrocephaly-low insertion umbilicus syndrome";"2184";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type";"2204";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pontocerebellar hypoplasia type 1";"2254";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital mitral malformation";"2447";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Megalencephalic leukoencephalopathy with subcortical cysts";"2478";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated Klippel-Feil syndrome";"2345";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Variant of Guillain-Barré syndrome";"231413";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Focal, segmental or multifocal dystonia";"1866";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beta-thalassemia-X-linked thrombocytopenia syndrome";"231393";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beta-thalassemia with other manifestations";"231386";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Medullary sponge kidney";"1309";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemoglobin E-beta-thalassemia syndrome";"231249";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemoglobin C-beta-thalassemia syndrome";"231242";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic hypercalciuria";"2197";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Delta-beta-thalassemia";"231237";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mansonelliasis";"2459";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Larsen-like osseous dysplasia-short stature syndrome";"2370";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Locked-in syndrome";"2406";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant keratitis";"2334";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary pulmonary lymphoma";"2420";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gastroschisis";"2368";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kawasaki disease";"2331";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bronchogenic cyst";"2357";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ménétrier disease";"2494";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital primary lymphedema without systemic or visceral involvement";"2416";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laryngocele";"2372";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Legg-Calvé-Perthes disease";"2380";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Conotruncal heart malformations";"2445";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Meningioma";"2495";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial partial lipodystrophy, Dunnigan type";"2348";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kousseff syndrome";"2351";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Schilbach-Rott syndrome";"2353";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lacrimoauriculodentodigital syndrome";"2363";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucocutaneous venous malformations";"2451";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Patterson-Stevenson-Fontaine syndrome";"2439";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated split hand-split foot malformation";"2440";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Czeizel-Losonci syndrome";"2437";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hand-foot-genital syndrome";"2438";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome";"2435";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrocephaly-spastic paraplegia-dysmorphism syndrome";"2429";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrosomia-microphthalmia-cleft palate syndrome";"2432";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Upper limb defect-eye and ear abnormalities syndrome";"2489";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lower limb malformation-hypospadias syndrome";"2487";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Melorheostosis";"2485";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Melkersson-Rosenthal syndrome";"2483";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Melnick-Needles syndrome";"2484";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurocutaneous melanocytosis";"2481";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Melhem-Fahl syndrome";"2482";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Megalencephaly";"2477";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Megalocornea-intellectual disability syndrome";"2479";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "White forelock with malformations";"2475";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysraphism-cleft lip/palate-limb reduction defects syndrome";"2476";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "McKusick-Kaufman syndrome";"2473";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "McDonough syndrome";"2471";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Matthew-Wood syndrome";"2470";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Marfanoid syndrome, De Silva type";"2464";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Shprintzen-Goldberg syndrome";"2462";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Müllerian duct anomalies-limb anomalies syndrome";"2491";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "FATCO syndrome";"2492";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndactyly type 8";"2498";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metachondromatosis";"2499";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mesomelia-synostoses syndrome";"2496";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Upper limb mesomelic dysplasia";"2497";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome";"2502";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrogeria";"2500";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metaphyseal chondrodysplasia, Spahr type";"2501";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome";"2504";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Van den Ende-Gupta syndrome";"2460";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kallmann syndrome-heart disease syndrome";"2326";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leukodystrophy";"68356";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrocephaly-short stature-paraplegia syndrome";"2427";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Muscular pseudohypertrophy-hypothyroidism syndrome";"2349";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare lymphatic malformation";"2415";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to lactate dehydrogenase deficiency";"2364";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kasabach-Merritt syndrome";"2330";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microsporidiosis";"2552";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated microphthalmia-anophthalmia-coloboma";"2542";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Linear verrucous nevus syndrome";"2611";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beta-thalassemia associated with another hemoglobin anomaly";"231230";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dominant beta-thalassemia";"231226";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal renal tubular acidosis";"18";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beta-thalassemia intermedia";"231222";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beta-thalassemia major";"231214";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Usher syndrome type 3";"231183";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myopathy and diabetes mellitus";"2596";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary unilateral adrenal hyperplasia";"231580";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal glycine encephalopathy";"289857";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile glycine encephalopathy";"289860";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Linear nevus sebaceus syndrome";"2612";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive primary microcephaly";"2512";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital mesoblastic nephroma";"2665";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myeloperoxidase deficiency";"2587";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial visceral myopathy";"2604";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cystic fibrosis-gastritis-megaloblastic anemia syndrome";"2575";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cyprus facial-neuromusculoskeletal syndrome";"2674";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurofaciodigitorenal syndrome";"2673";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple benign circumferential skin creases on limbs";"2505";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microbrachycephaly-ptosis-cleft lip syndrome";"2511";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Micro syndrome";"2510";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Corpus callosum agenesis-abnormal genitalia syndrome";"2508";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-cardiac defect-lung malsegmentation syndrome";"2516";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-cardiomyopathy syndrome";"2515";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant primary microcephaly";"2514";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-albinism-digital anomalies syndrome";"2513";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome";"2521";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mayer-Rokitansky-Küster-Hauser syndrome type 2";"2578";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome";"2579";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mulibrey nanism";"2576";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "N syndrome";"2608";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tubular aggregate myopathy";"2593";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome";"2590";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myoclonus-cerebellar ataxia-deafness syndrome";"2589";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myhre syndrome";"2588";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephalic primordial dwarfism, Montreal type";"2617";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3M syndrome";"2616";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nail-patella-like renal disease";"2613";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Geleophysic dysplasia";"2623";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fibular aplasia-complex brachydactyly syndrome";"2639";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mesomelic dwarfism-cleft palate-camptodactyly syndrome";"2631";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Langer mesomelic dysplasia";"2632";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mesomelic dysplasia, Nievergelt type";"2633";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mesomelic dwarfism, Reinhardt-Pfeiffer type";"2634";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Parastremmatic dwarfism";"2646";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteoglosphonic dysplasia";"2645";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephalic primordial dwarfism, Toriello type";"2643";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephalic osteodysplastic primordial dwarfism types I and III";"2636";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lenz-Majewski hyperostotic dwarfism";"2658";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypomyelination neuropathy-arthrogryposis syndrome";"2680";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microgastria-limb reduction defect syndrome";"2538";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactylous dwarfism, Mseleni type";"2619";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome";"2653";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microphthalmia-microtia-fetal akinesia syndrome";"2547";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myalgia-eosinophilia syndrome associated with tryptophan";"2582";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult familial nephronophthisis-spastic quadriparesia syndrome";"2666";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-seizures-intellectual disability-heart disease syndrome";"2519";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mycetoma";"2583";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile myofibromatosis";"2591";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic mycosis fungoides";"2584";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Noma";"2700";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic Epstein-Barr virus infection syndrome";"2566";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pentosuria";"2843";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteopetrosis and related disorders";"2781";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial benign chronic pemphigus";"2841";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome";"231556";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant generalized dystrophic epidermolysis bullosa";"231568";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare surgically correctable form of primary aldosteronism";"231637";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adrenocortical carcinoma with pure aldosterone hypersecretion";"231625";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency";"1900";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated growth hormone deficiency type IB";"231671";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated growth hormone deficiency type II";"231679";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare non surgically correctable form of primary aldosteronism";"231641";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated growth hormone deficiency type IA";"231662";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome";"231736";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epibulbar lipodermoid-preauricular appendage-polythelia syndrome";"231742";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile Paget disease";"2801";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteopetrosis with renal tubular acidosis";"2785";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Opsismodysplasia";"2746";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extramammary Paget disease";"2800";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Subacute sclerosing leukoencephalitis";"2806";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteochondritis dissecans";"2764";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Young-onset Parkinson disease";"2828";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Persistent Müllerian duct syndrome";"2856";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculofaciocardiodental syndrome";"2712";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ochoa syndrome";"2704";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Olivopontocerebellar atrophy-deafness syndrome";"2732";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Omodysplasia";"2733";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculocerebral hypopigmentation syndrome, Cross type";"2719";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculocerebral hypopigmentation syndrome, Preus type";"2720";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Odonto-onycho-dermal dysplasia";"2721";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Odonto-onycho dysplasia-alopecia syndrome";"2722";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Odontotrichomelic syndrome";"2723";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Odontomatosis-aortae esophagus stenosis syndrome";"2724";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked sideroblastic anemia and spinocerebellar ataxia";"2802";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "W syndrome";"2804";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature-webbed neck-heart disease syndrome";"2865";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome";"2866";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature-wormian bones-dextrocardia syndrome";"2863";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pericardium anomaly";"2846";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Penoscrotal transposition";"2842";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome";"2848";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pericardial and diaphragmatic defect";"2847";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal caliceal diverticuli-deafness syndrome";"2838";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pelvic dysplasia-arthrogryposis of lower limbs syndrome";"2840";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pelvis-shoulder dysplasia";"2839";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Perrault syndrome";"2855";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fuhrmann syndrome";"2854";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alopecia-intellectual disability syndrome";"2850";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PARC syndrome";"2825";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic paraplegia-precocious puberty syndrome";"2826";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic paraplegia-facial-cutaneous lesions syndrome";"2819";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic paraplegia-nephritis-deafness syndrome";"2820";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic paraplegia-neuropathy-poikiloderma syndrome";"2821";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 11";"2822";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pectus excavatum-macrocephaly-dysplastic nails syndrome";"2835";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PEHO syndrome";"2836";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short tarsus-absence of lower eyelashes syndrome";"2832";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Stiff skin syndrome";"2833";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wrinkly skin syndrome";"2834";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oromandibular-limb hypogenesis syndrome";"2749";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rhizomelic dysplasia, Patterson-Lowry type";"2831";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Okamoto syndrome";"2729";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Orofaciodigital syndrome type 10";"2756";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fowler urethral sphincter dysfunction syndrome";"2795";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Onchocerciasis";"2737";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Perlman syndrome";"2849";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Opitz GBBB syndrome";"2745";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transcobalamin I deficiency";"2967";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Phosphoenolpyruvate carboxykinase deficiency";"2880";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Prolactinoma";"2965";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Postpoliomyelitis syndrome";"2942";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Properdin deficiency";"2966";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidermolysis bullosa simplex with muscular dystrophy";"257";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dermatosparaxis Ehlers-Danlos syndrome";"1901";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated growth hormone deficiency type III";"231692";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome";"231720";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arthrochalasia Ehlers-Danlos syndrome";"1899";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infectious embryofetopathy";"232035";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome with alpha-thalassemia as a major feature";"232288";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "4q21 microdeletion syndrome";"238750";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea";"238763";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transient congenital hypothyroidism due to maternal factor";"238696";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transient congenital hypothyroidism due to neonatal factor";"238699";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial congenital mirror movements";"238722";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mammary-digital-nail syndrome";"238744";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "1q44 microdeletion syndrome";"238769";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphoproliferative syndrome";"238510";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypotonia-cystinuria type 1 syndrome";"238517";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to CD27 deficiency";"238505";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyruvate carboxylase deficiency";"3008";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kindler epidermolysis bullosa";"2908";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Prune belly syndrome";"2970";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sitosterolemia";"2882";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic polydactyly";"2913";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immune thrombocytopenia";"3002";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ramsay Hunt syndrome";"3020";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyridoxine-dependent epilepsy";"3006";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic inflammatory demyelinating polyneuropathy";"2932";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile polyposis syndrome";"2929";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pityriasis rubra pilaris";"2897";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Caudal regression syndrome";"3027";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial peripheral male-limited precocious puberty";"3000";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Growth delay-hydrocephaly-lung hypoplasia syndrome";"3035";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Radial ray hypoplasia-choanal atresia syndrome";"3026";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "RAPADILINO syndrome";"3021";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "External auditory canal atresia-vertical talus-hypertelorism syndrome";"3023";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TARP syndrome";"2886";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Piebald trait-neurologic defects syndrome";"2885";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Piebaldism";"2884";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cutaneous photosensitivity-lethal colitis syndrome";"2881";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Phocomelia, Schinzel type";"2879";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome";"2878";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pilodental dysplasia-refractive errors syndrome";"2892";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pili torti-developmental delay-neurological abnormalities syndrome";"2891";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pili torti";"2889";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pili torti-onychodysplasia syndrome";"2890";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pierre Robin syndrome-faciodigital anomaly syndrome";"2888";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Phakomatosis pigmentovascularis";"2875";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PHAVER syndrome";"2876";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Phakomatosis pigmentokeratotica";"2874";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proteus-like syndrome";"2969";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant prognathism";"2964";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "De Barsy syndrome";"2962";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XX difference of sex development-anorectal anomalies syndrome";"2973";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome";"2972";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudoleprechaunism syndrome, Patterson type";"2976";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XX difference of sex development-skeletal anomalies syndrome";"2975";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrootoocular syndrome";"2980";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic intestinal pseudoobstruction";"2978";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly-long thumb syndrome";"2946";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrodysplasia scoliosis";"2956";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Baraitser-Winter cerebrofrontofacial syndrome";"2995";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-plagiocephaly syndrome";"2898";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progeroid syndrome, Petty type";"2963";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leukocyte adhesion deficiency";"2968";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Musculocontractural Ehlers-Danlos syndrome";"2953";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital systemic veins anomaly";"3091";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital aortic valve stenosis";"3093";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fixed subaortic stenosis";"3092";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Saccharopinuria";"3124";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated succinate-CoQ reductase deficiency";"3208";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant peripheral nerve sheath tumor";"3148";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Overhydrated hereditary stomatocytosis";"3203";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dehydrated hereditary stomatocytosis";"3202";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypohidrotic ectodermal dysplasia";"238468";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hypercholanemia";"238475";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile dystonia-parkinsonism";"238455";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SLC35A1-CDG";"238459";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial clubfoot due to 17q23.1q23.2 microduplication";"238578";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency";"238583";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chuvash erythrocytosis";"238557";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Supravalvular pulmonary stenosis";"3192";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Costello syndrome";"3071";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome";"3151";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sialuria";"3166";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Eosinophilic fasciitis";"3165";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sarcosinemia";"3129";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rotor syndrome";"3111";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Stiff person spectrum disorder";"3198";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Roberts syndrome";"3103";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spina bifida-hypospadias syndrome";"3176";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Steroid dehydrogenase deficiency-dental anomalies syndrome";"3196";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Monoamine oxidase A deficiency";"3057";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ulnar-mammary syndrome";"3138";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome";"3145";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune polyendocrinopathy type 2";"3143";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Schneckenbecken dysplasia";"3144";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Say-Barber-Miller syndrome";"3132";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Satoyoshi syndrome";"3130";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SCARF syndrome";"3134";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ruvalcaba syndrome";"3121";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rombo syndrome";"3110";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant vitreoretinochoroidopathy";"3086";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Revesz syndrome";"3088";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pulmonary venous return anomaly";"3090";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Meacham syndrome";"3097";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rhizomelic syndrome, Urbach type";"3098";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe X-linked intellectual disability, Gustavson type";"3078";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-psychosis-macroorchidism syndrome";"3077";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability, Wolff type";"3080";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arthrogryposis-ectodermal dysplasia syndrome";"3200";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sprengel deformity";"3181";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Corneodermatoosseous syndrome";"3194";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary hyperekplexia";"3197";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Stimmler syndrome";"3199";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Steatocystoma multiplex-natal teeth syndrome";"3184";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Holoprosencephaly-radial heart renal anomalies syndrome";"3186";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Subaortic stenosis-short stature syndrome";"3191";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Supravalvular aortic stenosis";"3193";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sclerosteosis";"3152";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome";"3225";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deafness-lymphedema-leukemia syndrome";"3226";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome";"3224";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deafness-oligodontia syndrome";"3230";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deafness-onychodystrophy syndrome";"3231";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deafness-ear malformation-facial palsy syndrome";"3232";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Stüve-Wiedemann syndrome";"3206";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical Rett syndrome";"3095";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome";"3207";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pili gemini";"79492";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nicolaides-Baraitser syndrome";"3051";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tetraploidy";"3305";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Siegler-Brewer-Carey syndrome";"3167";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-short stature-hypertelorism syndrome";"3074";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pulmonary veins atresia or stenosis";"3188";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pulmonary sequestration";"3161";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Subpulmonary stenosis";"3190";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pulmonary valvar stenosis";"3189";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-polydactyly-uncombable hair syndrome";"3082";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sézary syndrome";"3162";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Double outlet left ventricle";"3427";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Double outlet right ventricle";"3426";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transient tyrosinemia of the newborn";"3402";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thymic epithelial neoplasm";"3398";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Germ cell tumor";"3399";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Synovial sarcoma";"3273";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syringomyelia";"3280";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary Fanconi renotubular syndrome";"3337";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Essential thrombocythemia";"3318";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Soft tissue sarcoma";"3394";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome";"238569";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired secondary polycythemia";"238547";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical hypotonia-cystinuria syndrome";"238523";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital secondary polycythemia";"238536";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Megacystis-megaureter syndrome";"238637";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic intracranial hypertension";"238624";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ileal pouch anal anastomosis related faecal incontinence";"238621";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beckwith-Wiedemann syndrome due to NSD1 mutation";"238613";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tracheobronchopathia osteochondroplastica";"3348";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of plasmalogens biosynthesis";"3276";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multifocal atrial tachycardia";"3282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trisomy 18";"3380";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thrombocytopenia-absent radius syndrome";"3320";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tetralogy of Fallot";"3303";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Takayasu arteritis";"3287";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tuberculosis";"3389";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inverted duplicated chromosome 15 syndrome";"3306";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trisomy X";"3375";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unilateral ocular duplication";"3374";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trismus-pseudocamptodactyly syndrome";"3377";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Upington disease";"3408";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Urban-Rogers-Meyer syndrome";"3409";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "VACTERL with hydrocephalus";"3412";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Uhl anomaly";"3403";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ulbright-Hodes syndrome";"3404";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Humerus trochlea aplasia";"3383";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Truncus arteriosus";"3384";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thomas syndrome";"3316";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Van den Bosch syndrome";"3417";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MMEP syndrome";"3434";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cenani-Lenz syndrome";"3258";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dobrow syndrome";"3262";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Humero-radial synostosis";"3265";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Humero-radio-ulnar synostosis";"3266";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Radioulnar synostosis-microcephaly-scoliosis syndrome";"3268";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Radioulnar synostosis-developmental delay-hypotonia syndrome";"3270";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondylocarpotarsal synostosis";"3275";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Teebi-Shaltout syndrome";"3291";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Telecanthus-hypertelorism-strabismus-pes cavus syndrome";"3293";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tel Hashomer camptodactyly syndrome";"3292";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extensor tendons of finger anomalies";"3294";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tetraamelia-multiple malformations syndrome";"3301";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fallot complex-intellectual disability-growth delay syndrome";"3304";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thalidomide embryopathy";"3312";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive deafness with stapes fixation";"3235";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Conductive deafness-ptosis-skeletal anomalies syndrome";"3236";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cochleosaccular degeneration-cataract syndrome";"3233";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deafness-craniofacial syndrome";"3241";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syngnathia-cleft palate syndrome";"3263";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Umbilical cord ulceration-intestinal atresia syndrome";"3405";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Catecholaminergic polymorphic ventricular tachycardia";"3286";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "His bundle tachycardia";"3283";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Central nervous system calcification-deafness-tubular acidosis-anemia syndrome";"3240";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tularemia";"3392";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Toxocariasis";"3343";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aorto-ventricular tunnel";"3400";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune lymphoproliferative syndrome";"3261";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital radioulnar synostosis";"3269";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndactyly-polydactyly-ear lobe syndrome";"3259";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tetrasomy 5p";"3309";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 17q";"3379";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Double uterus-hemivagina-renal agenesis syndrome";"3411";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic hypereosinophilic syndrome";"3260";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "African trypanosomiasis";"3385";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome";"656273";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary orthostatic tremor";"238606";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IgG4-related mesenteritis";"238593";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal iodine exposure";"238688";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Very long chain acyl-CoA dehydrogenase deficiency";"26793";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Digitalis poisoning";"31828";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary venoocclusive disease";"31837";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypersensitivity pneumonitis";"31740";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile convulsions and choreoathetosis";"31709";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ethylene glycol poisoning";"31826";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paraquat poisoning";"31827";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Colchicine poisoning";"31824";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methanol poisoning";"31825";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "1p36.33 duplication syndrome";"656279";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency";"656283";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency";"656300";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency";"656313";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive combined immunodeficiency due to IL6R deficiency";"656326";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Embryonal tumor with multilayered rosettes";"656417";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant combined immunodeficiency due to ERBIN deficiency";"656912";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "16q22 deletion syndrome";"658540";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic small fibers neuropathy";"658549";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated pulmonary artery sling";"658574";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rowell syndrome";"658584";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Eyelid sebaceous carcinoma";"658590";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DNMT3A-related microcephalic dwarfism";"658595";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transplant-related bronchiolitis obliterans";"658602";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-transplant-related bronchiolitis obliterans";"658612";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "COQ7-related distal hereditary motor neuropathy";"658778";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Greig cephalopolysyndactyly-contiguous gene syndrome";"658805";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atrophoderma of Pasini and Pierini";"658810";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methylenetetrahydrofolate dehydrogenase 1 deficiency";"658813";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome";"658843";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fasciolopsiasis";"658909";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paragonimiasis";"658913";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Clonorchiasis";"658917";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset autoimmune disorder due to DOCK11 partial deficiency";"658946";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset immune dysregulation due to DOCK11 complete deficiency";"658951";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wolfram syndrome";"3463";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Whipple disease";"3452";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "XK aprosencephaly syndrome";"3469";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Yunis-Varon syndrome";"3472";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune polyendocrinopathy type 1";"3453";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Weaver-Williams syndrome";"3448";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Weill-Marchesani syndrome";"3449";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wildervanck syndrome";"3456";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wiedemann-Rautenstrauch syndrome";"3455";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Von Voss-Cherstvoy syndrome";"3439";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CHIME syndrome";"3474";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rat-bite fever";"31205";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nocardiosis";"31204";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypobetalipoproteinemia";"31154";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Melioidosis";"31202";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tangier disease";"31150";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypoalphalipoproteinemia";"31153";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement";"31043";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dermatofibrosarcoma protuberans";"31112";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary central diabetes insipidus";"30925";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurometabolic disorder due to serine deficiency";"35705";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glutaric acidemia type 3";"35706";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "L-Arginine:glycine amidinotransferase deficiency";"35704";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glucose-galactose malabsorption";"35710";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aromatic L-amino acid decarboxylase deficiency";"35708";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nanophthalmos";"35612";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tumor necrosis factor receptor 1 associated periodic syndrome";"32960";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bietti crystalline dystrophy";"41751";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Iminoglycinuria";"42062";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Morning glory disc anomaly";"35737";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Generalized epilepsy with febrile seizures-plus";"36387";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paraneoplastic neurologic syndrome";"36388";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adiposis dolorosa";"36397";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypocomplementemic urticarial vasculitis";"36412";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Stevens-Johnson syndrome";"36426";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal deletion 1q";"36367";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ulnar/fibula ray defect-brachydactyly syndrome";"52056";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome";"52055";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aceruloplasminemia";"48818";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Embryonal carcinoma of the central nervous system";"48736";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IgG4-related retroperitoneal fibrosis";"49041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Focal myositis";"48918";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Achromatopsia";"49382";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dentinogenesis imperfecta";"49042";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital cataracts-facial dysmorphism-neuropathy syndrome";"48431";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lissencephaly";"48471";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Postinfectious vasculitis";"48435";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary effusion lymphoma";"48686";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Monosomy 22q13.3";"48652";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Talo-patello-scaphoid osteolysis";"50809";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microlissencephaly-micromelia syndrome";"50810";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lipodystrophy-intellectual disability-deafness syndrome";"50811";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniolenticulosutural dysplasia";"50814";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anterior cutaneous nerve entrapment syndrome";"51890";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PFAPA syndrome";"42642";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tietz syndrome";"42665";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute tricyclic antidepressant poisoning";"43117";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Serotonin syndrome";"43116";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lambert-Eaton myasthenic syndrome";"43393";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute poisoning by drugs with membrane-stabilizing effect";"43119";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PHACE syndrome";"42775";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe congenital neutropenia";"42738";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary myopathy with lactic acidosis due to ISCU deficiency";"43115";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Miyoshi myopathy";"45448";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Incessant infant ventricular tachycardia";"45453";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic neonatal atrial flutter";"45452";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gastrointestinal stromal tumor";"44890";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital fibrosis of extraocular muscles";"45358";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidermolysis bullosa acquisita";"46487";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Linear IgA dermatosis";"46488";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Superficial pemphigus";"46485";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucous membrane pemphigoid";"46486";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paroxysmal extreme pain disorder";"46348";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oligodendroglial tumor";"46484";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lathosterolosis";"46059";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary central nervous system lymphoma";"46135";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary papillary renal cell carcinoma";"47044";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebral arteriovenous malformation";"46724";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Char syndrome";"46627";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome";"46532";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Recurrent respiratory papillomatosis";"60032";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic bronchiectasis";"60033";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal ichthyosis-sclerosing cholangitis syndrome";"59303";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gestational trophoblastic neoplasm";"59305";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "McLeod neuroacanthocytosis syndrome";"59306";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Schilder disease";"59298";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Enlarged parietal foramina";"60015";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary alveolar microlithiasis";"60025";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary nodular lymphoid hyperplasia";"60026";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Loeys-Dietz syndrome";"60030";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rhombencephalosynapsis";"59315";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Argyria";"60014";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cirrhotic cardiomyopathy";"57777";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Medial condensing osteitis of the clavicle";"57196";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hepatic disease";"57146";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SUNCT syndrome";"57145";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Human prion disease";"56970";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cold agglutinin disease";"56425";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sorsby pseudoinflammatory fundus dystrophy";"59181";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laing early-onset distal myopathy";"59135";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteoblastoma";"58040";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic hairy cell leukemia";"58017";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mazabraud syndrome";"57782";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TNP03-related limb-girdle muscular dystrophy D2";"55595";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "HNRNPDL-related limb-girdle muscular dystrophy D3";"55596";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniopharyngioma";"54595";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sarcocystosis";"54368";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary membranoproliferative glomerulonephritis";"54370";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hepatocellular adenoma";"54272";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atelosteogenesis type II";"56304";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare teratologic disease";"52662";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudo-von Willebrand disease";"52530";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bifid nose";"2695";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myelodysplastic syndrome";"52688";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Branchiootic syndrome";"52429";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked creatine transporter deficiency";"52503";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia";"52430";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mantle cell lymphoma";"52416";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinitis punctata albescens";"52427";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MALT lymphoma";"52417";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mohr-Tranebjaerg syndrome";"52368";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Muenke syndrome";"53271";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial cutaneous collagenoma";"53296";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brody myopathy";"53347";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Orbital leiomyoma";"52994";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Caroli disease";"53035";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vasculitis";"52759";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated follicle stimulating hormone deficiency";"52901";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital lactase deficiency";"53690";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital chloride diarrhea";"53689";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity";"53583";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Goldmann-Favre syndrome";"53540";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary geniospasm";"53372";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked dystonia-parkinsonism";"53351";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Plummer-Vinson syndrome";"54028";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ectodermal dysplasia with natal teeth, Turnpenny type";"69083";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Odonto-tricho-ungual-digito-palmar syndrome";"69082";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Limb-mammary syndrome";"69085";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pure hair and nail ectodermal dysplasia";"69084";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rhabdoid tumor";"69077";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial renal glucosuria";"69076";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Liposarcoma";"69078";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic steroid-sensitive nephrotic syndrome";"69061";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization";"69063";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3-methylglutaconic aciduria type 4";"67048";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysostosis with brachydactyly";"69028";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3-methylglutaconic aciduria type 1";"67046";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3-methylglutaconic aciduria type 3";"67047";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thrombocytopenia with congenital dyserythropoietic anemia";"67044";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability with isolated growth hormone deficiency";"67045";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Late-onset retinal degeneration";"67042";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amoebic keratitis";"67043";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Segmental odontomaxillary dysplasia";"67039";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyaluronidase deficiency";"67041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "B-cell chronic lymphocytic leukemia";"67038";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extracutaneous mastocytoma";"66662";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PANDAS";"66624";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic skin disease";"68346";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tumor of hematopoietic and lymphoid tissues";"68347";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple congenital anomalies/dysmorphic syndrome";"68341";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hemorrhagic disorder due to a constitutional coagulation factors defect";"68334";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic tumor";"68336";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare chromosomal anomaly";"68335";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare maxillo-facial surgical disease";"68329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vascular anomaly or angioma";"68419";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare deafness";"68361";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare vascular disease";"68362";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare dystonia";"68363";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemoglobinopathy";"68364";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lysosomal disease";"68366";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare inborn errors of metabolism";"68367";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peroxisomal disease";"68373";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital limb malformation";"68378";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuromuscular disease";"68381";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial disease";"68380";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare constitutional aplastic anemia";"68383";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurometabolic disease";"68385";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare parkinsonian disorder";"68402";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare bone tumor";"68411";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare infectious disease";"68416";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare parathyroid disease and phosphocalcic metabolism anomaly";"68415";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sympathetic ophthalmia";"79098";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital bile acid synthesis defect type 4";"79095";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Grange syndrome";"79094";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Folinic acid-responsive seizures";"79097";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyridoxal phosphate-responsive seizures";"79096";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic visceral acid sphingomyelinase deficiency";"77293";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Odontoleukodystrophy";"77295";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gaucher disease type 3";"77261";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile neurovisceral acid sphingomyelinase deficiency";"77292";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anophthalmia/microphthalmia-esophageal atresia syndrome";"77298";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "North Carolina macular dystrophy";"75327";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive bifocal chorioretinal atrophy";"75373";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bradyopsia";"75374";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial drusen";"75376";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Central areolar choroidal dystrophy";"75377";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oligocone trichromacy";"75378";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cystoid macular dystrophy";"75381";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oguchi disease";"75382";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brain malformation-congenital heart disease-postaxial polydactyly syndrome";"75389";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency";"75391";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Periodontal Ehlers-Danlos syndrome";"75392";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome";"75496";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked Ehlers-Danlos syndrome";"75497";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Angioosteohypotrophic syndrome";"75508";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked sideroblastic anemia";"75563";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tropical endomyocardial fibrosis";"75565";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired idiopathic sideroblastic anemia";"75564";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary progressive freezing gait";"75567";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical Werner syndrome";"79474";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sterol biosynthesis disorder";"79195";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of the gamma-glutamyl cycle";"79196";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of branched-chain amino acid metabolism";"79197";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "2-methylbutyryl-CoA dehydrogenase deficiency";"79157";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Seizures-intellectual disability due to hydroxylysinuria syndrome";"79156";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hydroxykynureninuria";"79155";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "2-aminoadipic 2-oxoadipic aciduria";"79154";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic trachyonychia";"79153";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disseminated superficial actinic porokeratosis";"79152";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrokeratosis verruciformis of Hopf";"79151";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Linear and whorled nevoid hypermelanosis";"79150";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dermochondrocorneal dystrophy";"79149";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Elastosis perforans serpiginosa";"79148";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial reactive perforating collagenosis";"79147";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial progressive hyperpigmentation";"79146";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dowling-Degos disease";"79145";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital onychodysplasia";"79144";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital anonychia";"79143";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Creatine deficiency syndrome";"79172";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of methionine cycle and sulfur amino acid metabolism";"79173";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile neuronal ceroid lipofuscinosis";"79264";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile neuronal ceroid lipofuscinosis";"79263";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult neuronal ceroid lipofuscinosis";"79262";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sanfilippo syndrome type A";"79269";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GM1 gangliosidosis type 3";"79257";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GM1 gangliosidosis type 2";"79256";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GM1 gangliosidosis type 1";"79255";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic phenylketonuria";"79254";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib";"79259";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia";"79258";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyruvate dehydrogenase phosphatase deficiency";"79246";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mild phenylketonuria";"79253";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency";"79240";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Biotinidase deficiency";"79241";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Galactose epimerase deficiency";"79238";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic galactosemia";"79239";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyruvate dehydrogenase E2 deficiency";"79244";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Holocarboxylase synthetase deficiency";"79242";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyruvate dehydrogenase E1-alpha deficiency";"79243";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sanfilippo syndrome type B";"79270";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sanfilippo syndrome type C";"79271";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sanfilippo syndrome type D";"79272";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary coproporphyria";"79273";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute intermittent porphyria";"79276";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital erythropoietic porphyria";"79277";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Verrucous nevus";"79467";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inflammatory linear verrucous epidermal nevus";"79466";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acanthokeratolytic verrucous nevus";"79468";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Porphyria variegata";"79473";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital glucokinase-related hyperinsulinism";"79299";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diazoxide-resistant focal hyperinsulinism";"79298";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital bile acid synthesis defect type 1";"79301";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial LCAT deficiency";"79293";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fish-eye disease";"79292";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal erythropoietic protoporphyria";"79278";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-N-acetylgalactosaminidase deficiency type 1";"79279";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-N-acetylgalactosaminidase deficiency type 2";"79280";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-N-acetylgalactosaminidase deficiency type 3";"79281";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methylmalonic acidemia with homocystinuria, type cblC";"79282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methylmalonic acidemia with homocystinuria, type cblD";"79283";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methylmalonic acidemia with homocystinuria type cblF";"79284";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "COG7-CDG";"79333";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "B4GALT1-CDG";"79332";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MOGS-CDG";"79330";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MGAT2-CDG";"79329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ALG9-CDG";"79328";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ALG1-CDG";"79327";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ALG2-CDG";"79326";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ALG8-CDG";"79325";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ALG12-CDG";"79324";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MPDU1-CDG";"79323";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DPM1-CDG";"79322";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ALG3-CDG";"79321";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ALG6-CDG";"79320";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MPI-CDG";"79319";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PMM2-CDG";"79318";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "L-2-hydroxyglutaric aciduria";"79314";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "D-2-hydroxyglutaric aciduria";"79315";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vitamin B12-unresponsive methylmalonic acidemia type mut-";"79312";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vitamin B12-responsive methylmalonic acidemia type cblA";"79310";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vitamin B12-responsive methylmalonic acidemia type cblB";"79311";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive familial intrahepatic cholestasis type 1";"79306";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive familial intrahepatic cholestasis type 2";"79304";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive familial intrahepatic cholestasis type 3";"79305";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hair anomaly";"79363";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcystic lymphatic malformation";"79490";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brooke-Spiegler syndrome";"79493";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrocystic lymphatic malformation";"79489";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Punctate palmoplantar keratoderma type 2";"79502";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ichthyosis hystrix of Curth-Macklin";"79503";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cholesterol-ester transfer protein deficiency";"79506";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypotonia-failure to thrive-microcephaly syndrome";"79507";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked congenital generalized hypertrichosis";"79495";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant deafness-onychodystrophy syndrome";"79499";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DOORS syndrome";"79500";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gardner syndrome";"79665";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome";"85167";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Platyspondylic dysplasia, Torrance type";"85166";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe achondroplasia-developmental delay-acanthosis nigricans syndrome";"85165";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genitopatellar syndrome";"85201";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ischiovertebral syndrome";"85200";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-amyloid monoclonal immunoglobulin deposition disease";"86861";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Heavy chain disease";"86864";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated epispadias";"93928";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hepatocellular carcinoma";"88673";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive ataxia, Beauce type";"88644";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant progressive nephropathy with hypertension";"88659";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor";"88660";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amelogenesis imperfecta";"88661";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome";"88637";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency";"88639";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital insensitivity to pain-anosmia-neuropathic arthropathy";"88642";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome";"88643";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anterior segment developmental anomaly";"88632";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Superior limbic keratoconjunctivitis";"88633";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vacuolar myopathy with sarcoplasmic reticulum protein aggregates";"88635";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ichthyosis-prematurity syndrome";"88621";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Posterior column ataxia-retinitis pigmentosa syndrome";"88628";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tritanopia";"88629";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Terminal osseous dysplasia-pigmentary defects syndrome";"88630";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital anosmia";"88620";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sialidosis type 2";"87876";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Keratosis palmaris et plantaris-clinodactyly syndrome";"86919";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diffuse palmoplantar keratoderma-acrocyanosis syndrome";"86918";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphedema-atrial septal defects-facial changes syndrome";"86915";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myoclonic epilepsy in non-progressive encephalopathies";"86913";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome";"86914";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myoclonic epilepsy of infancy";"86909";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epilepsy with myoclonic absences";"86911";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypothalamic hamartomas with gelastic seizures";"86906";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic hemiconvulsion-hemiplegia syndrome";"86908";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dendritic cell sarcoma not otherwise specified";"86903";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methotrexate-associated lymphoproliferative disorders";"86904";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Interdigitating dendritic cell sarcoma";"86900";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Follicular dendritic cell sarcoma";"86902";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Histiocytic sarcoma";"86896";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Langerhans cell sarcoma";"86897";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare skin disease";"89826";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare dementia";"89043";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "T-cell large granular lymphocyte leukemia";"86872";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aggressive NK-cell leukemia";"86873";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blastic plasmacytoid dendritic cell neoplasm";"86870";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "T-cell prolymphocytic leukemia";"86871";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Angioimmunoblastic T-cell lymphoma";"86886";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nodular lymphocyte predominant Hodgkin lymphoma";"86893";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Subcutaneous panniculitis-like T-cell lymphoma";"86884";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary cutaneous peripheral T-cell lymphoma not otherwise specified";"86885";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Enteropathy-associated T-cell lymphoma";"86880";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hepatosplenic T-cell lymphoma";"86882";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult T-cell leukemia/lymphoma";"86875";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extranodal nasal NK/T cell lymphoma";"86879";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute peripheral arterial occlusion";"90064";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hepatitis B reinfection following liver transplantation";"90073";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinal cord injury";"90058";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary intestinal lymphangiectasia";"90362";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary intestinal lymphangiectasia";"90363";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Localized scleroderma";"90289";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome";"90301";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Systemic sclerosis";"90291";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Klippel-Trénaunay syndrome";"90308";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Parkes Weber syndrome";"90307";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cockayne syndrome type 2";"90322";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cockayne syndrome type 1";"90321";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chilblain lupus";"90280";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare endocrine growth disease";"90692";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypothyroidism due to TSH receptor mutations";"90673";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated thyroid-stimulating hormone deficiency";"90674";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 1E";"90658";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency";"90791";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital lipoid adrenal hyperplasia due to STAR deficency";"90790";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY difference of sex development due to testicular steroidogenesis defect";"90787";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY difference of sex development due to adrenal and testicular steroidogenesis defect";"90786";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY difference of sex development due to a testosterone synthesis defect";"90783";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XX difference of sex development induced by fetal androgens excess";"90776";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Difference of sex development";"90771";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-acquired panhypopituitarism";"90695";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Scleromyxedema without monoclonal gammopathy";"90400";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare X-linked non-syndromic sensorineural deafness type DFN";"90625";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare autosomal dominant non-syndromic sensorineural deafness type DFNA";"90635";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare autosomal recessive non-syndromic sensorineural deafness type DFNB";"90636";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenovirus infection in immunocompromised patients";"91127";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cardiomyopathy-hypotonia-lactic acidosis syndrome";"91130";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DK1-CDG";"91131";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ichthyosis-hypotrichosis syndrome";"91132";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency";"90793";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency";"90794";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency";"90795";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY difference of sex development due to isolated 17,20-lyase deficiency";"90796";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial androgen insensitivity syndrome";"90797";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary lipodystrophy";"90970";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Angiostrongyliasis";"74";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive axonal hereditary motor and sensory neuropathy";"91024";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Other metabolic disease";"91088";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency";"91135";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fibular hemimelia";"93323";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive omodysplasia";"93329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant omodysplasia";"93328";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polydactyly of a triphalangeal thumb";"93336";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Postaxial polydactyly type B";"93335";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Postaxial polydactyly type A";"93334";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pelviscapular dysplasia";"93333";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polydactyly of a biphalangeal thumb and/or hallux";"93339";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polydactyly of an index finger";"93337";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polysyndactyly";"93338";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked spondyloepimetaphyseal dysplasia";"93349";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepimetaphyseal dysplasia congenita, Strudwick type";"93346";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anauxetic dysplasia";"93347";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepimetaphyseal dysplasia, Missouri type";"93356";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepimetaphyseal dysplasia, Irapa type";"93351";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepimetaphyseal dysplasia, Shohat type";"93352";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepiphyseal dysplasia tarda";"93284";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenoma of pancreas";"93292";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Okihiro syndrome";"93293";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Achondrogenesis type 2";"93296";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Achondrogenesis type 1B";"93298";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypochondrogenesis";"93297";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Achondrogenesis type 1A";"93299";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachyolmia, Maroteaux type";"93302";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant brachyolmia";"93304";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple epiphyseal dysplasia type 4";"93307";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lyme disease";"91546";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tubulointerstitial nephritis and uveitis syndrome";"91500";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial congenital palsy of trochlear nerve";"91498";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring dermoid of cornea";"91481";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital alacrima";"91416";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pilomatrixoma";"91414";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital ectropion uveae";"91491";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital sclerocornea";"91490";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital megalocornea";"91489";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rieger anomaly";"91483";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TSH-secreting pituitary adenoma";"91347";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-functioning pituitary adenoma";"91349";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Functioning gonadotropic adenoma";"91348";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pituitary dermoid and epidermoid cysts";"91351";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pituitary deficiency due to Rathke cleft cysts";"91350";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Germinoma of the central nervous system";"91352";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired monoclonal Ig light chain-associated Fanconi syndrome";"91136";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cryoglobulinemic vasculitis";"91138";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunotactoid or fibrillary glomerulopathy";"91137";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unspecified juvenile idiopathic arthritis";"91140";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Simple cryoglobulinemia";"91139";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XX difference of sex development induced by maternal-derived androgen";"91144";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SPONASTRIME dysplasia";"93357";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary bone dysplasia with defective bone mineralization";"93447";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary bone dysplasia with decreased bone density";"93446";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary bone dysplasia with increased bone density";"93444";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal osteosclerotic dysplasia";"93443";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chondrodysplasia punctata";"93442";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary bone dysplasia with multiple joint dislocations";"93441";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Patellar dysostosis";"93455";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysostosis with predominant vertebral and costal involvement";"93454";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysostosis with predominant craniofacial involvement";"93453";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare renal disease";"93626";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoinflammatory syndrome";"93665";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemoglobin H disease";"93616";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare cause of hypertension";"93618";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare renal tumor";"93619";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dent disease type 1";"93622";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dent disease type 2";"93623";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile dermatomyositis";"93672";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unicentric Castleman disease";"93685";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare developmental defect during embryogenesis";"93890";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile nephronophthisis";"93591";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile nephronophthisis";"93592";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic cystic renal disease";"93587";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Late-onset nephronophthisis";"93589";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary hyperoxaluria type 1";"93598";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nephropathy secondary to a storage or other metabolic disease";"93593";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital thrombotic thrombocytopenic purpura";"93583";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immune-mediated thrombotic thrombocytopenic purpura";"93585";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical hemolytic uremic syndrome with anti-factor H antibodies";"93581";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal renal tubular acidosis with anemia";"93610";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant distal renal tubular acidosis";"93608";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive proximal renal tubular acidosis";"93607";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hematological disorder with renal involvement";"93614";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cystinuria type B";"93613";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cystinuria type A";"93612";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Xanthinuria type II";"93602";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Xanthinuria type I";"93601";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary hyperoxaluria type 3";"93600";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary hyperoxaluria type 2";"93599";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nephrogenic syndrome of inappropriate antidiuresis";"93606";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bartter syndrome type 3";"93605";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare renal tubular disease";"93603";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TMEM165-CDG";"314667";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant cerebellar ataxia type III";"94148";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant cerebellar ataxia type IV";"94149";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anonychia congenita totalis";"94150";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deafness-infertility syndrome";"94064";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "12q14 microdeletion syndrome";"94063";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia";"94066";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "15q24 microdeletion syndrome";"94065";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepiphyseal dysplasia congenita";"94068";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe immune-mediated enteropathy";"94075";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partington syndrome";"94083";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-functioning paraganglioma";"94080";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blue diaper syndrome";"94086";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary renal hypouricemia";"94088";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cytophagic histiocytic panniculitis";"94087";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudohypoparathyroidism type 2";"94090";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudohypoparathyroidism type 1B";"94089";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Open spinal dysraphism with a myelomeningocele";"93969";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blepharospasm-oromandibular dystonia syndrome";"93964";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oromandibular dystonia";"93958";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Uremic pruritus";"94059";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neovascular glaucoma";"94058";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Humero-ulnar synostosis";"94056";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anotia";"93976";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "FG syndrome type 1";"93932";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bladder exstrophy";"93930";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cloacal exstrophy";"93929";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial thyroglossal duct cyst";"93953";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Hedera type";"93952";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Sutherland-Haan type";"93950";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Golabi-Ito-Hall type";"93947";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hamel cerebro-palato-cardiac syndrome";"93946";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Porteous type";"93945";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laryngotracheoesophageal cleft type 4";"93941";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laryngotracheoesophageal cleft type 3";"93940";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laryngotracheoesophageal cleft type 2";"93939";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laryngotracheoesophageal cleft type 1";"93938";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 11 syndrome";"96175";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 9 syndrome";"96173";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 3 syndrome";"96172";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 2 syndrome";"96171";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Emanuel syndrome";"96170";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Koolen-De Vries syndrome";"96169";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Monosomy 13q34";"96168";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Recombinant 8 syndrome";"96167";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-distal deletion 12q";"96160";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal deletion 14q";"96150";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal deletion 10q";"96148";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal deletion 12q";"96149";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kleefstra syndrome due to 9q34 microdeletion";"96147";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal deletion 4q";"96145";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal deletion 19p";"96129";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal deletion 6p";"96125";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal deletion 7p";"96126";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "7q11.23 microduplication syndrome";"96121";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Monosomy 22";"96123";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-distal duplication 9q";"96112";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 20q";"96107";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 16q";"96106";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 13q";"96105";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 22q";"96109";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 6q";"96098";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 5q";"96097";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 4q";"96096";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 11q";"96103";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 10q";"96102";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 9q";"96101";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 8q";"96100";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 2q";"96094";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3q26 microduplication syndrome";"96095";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "8p inverted duplication/deletion syndrome";"96092";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "4p16.3 microduplication syndrome";"96072";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 7p";"96074";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beckwith-Wiedemann syndrome due to 11p15 microduplication";"96076";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "16p13.3 microduplication syndrome";"96078";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 1p36";"96069";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic trisomy 22";"96068";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 3p";"96071";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 2p";"96070";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic trisomy 4";"96059";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic trisomy 5";"96060";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic trisomy 8";"96061";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic trisomy 10";"96063";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic congenital hypothyroidism";"95717";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital thyroid malformation without hypothyroidism";"95718";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thyroid hemiagenesis";"95719";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thyroid hypoplasia";"95720";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Levocardia";"95854";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tetrasomy 21";"96055";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined dystonia";"98203";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Persistent placoid maculopathy";"97341";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ADan amyloidosis";"97346";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ABri amyloidosis";"97345";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Postencephalitic parkinsonism";"97349";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pellagra";"97352";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dementia pugilistica";"97353";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Robinow syndrome";"97360";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Caribbean parkinsonism";"97355";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal hypoplasia, unilateral";"97361";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal hypoplasia, bilateral";"97362";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unilateral multicystic dysplastic kidney";"97363";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bilateral multicystic dysplastic kidney";"97364";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiloculated renal cyst";"97366";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal tubular dysgenesis due to twin-twin transfusion";"97367";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Drug-related renal tubular dysgenesis";"97368";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal tubular dysgenesis of genetic origin";"97369";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Right sided atrial isomerism";"97548";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary membranous glomerulonephritis";"97560";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare endocrine disease";"97978";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare immune disease";"98004";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hematologic disease";"97992";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare neurologic disease";"98006";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infectious disease of the nervous system";"98010";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare neurologic disease with psychiatric involvement";"98033";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare otorhinolaryngologic disease";"98036";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare systemic or rheumatologic disease";"98023";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare headache";"98022";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disease with odontological manifestation";"98027";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare odontologic disease";"98026";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare circulatory system disease";"98028";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maternal uniparental disomy of chromosome 13";"97678";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital renal artery stenosis";"97598";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudohypoparathyroidism";"97593";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunotactoid glomerulopathy";"97567";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pauci-immune glomerulonephritis without ANCA";"97564";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-amyloid fibrillary glomerulopathy";"97566";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pauci-immune glomerulonephritis with ANCA";"97563";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare gastroenterologic disease";"97935";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare cardiac disease";"97929";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "17q11 microdeletion syndrome";"97685";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare respiratory disease";"97955";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intestinal malformation";"97945";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gastroduodenal malformation";"97944";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare ophthalmic disorder";"97966";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare surgical thoracic disease";"97962";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare surgical cardiac disease";"97965";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Respiratory or thoracic malformation";"97957";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "EEC syndrome and related disorders";"98609";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder with conjunctival involvement as a major feature";"98610";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder of the lacrimal apparatus";"98602";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature";"98352";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature";"98353";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive isolated diffuse palmoplantar keratoderma";"98356";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive disease with focal palmoplantar keratoderma as a major feature";"98357";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Male infertility due to obstructive azoospermia";"98343";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant isolated diffuse palmoplantar keratoderma";"98349";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial partial lipodystrophy";"98306";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic lipodystrophy";"98305";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired lipodystrophy";"98307";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laminopathy";"98301";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic interstitial pneumonia";"98300";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Male infertility due to gonadal dysgenesis";"98313";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder";"98396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary acquired red cell aplasia";"98421";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vitamin B12- and folate-independent constitutional megaloblastic anemia";"98415";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Constitutional megaloblastic anemia due to folate metabolism disorder";"98408";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder";"98374";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemolytic anemia due to a disorder of glycolytic enzymes";"98372";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies";"98370";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare constitutional hemolytic anemia due to an enzyme disorder";"98369";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Constitutional hemolytic anemia due to acanthocytosis";"98366";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary stomatocytosis";"98365";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare constitutional hemolytic anemia due to a red cell membrane anomaly";"98364";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hemolytic anemia";"98363";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Constitutional sideroblastic anemia";"98362";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Constitutional anemia due to iron metabolism disorder";"98360";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune hemolytic anemia";"98375";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha granule disease";"98455";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dense granule disease";"98456";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Skeletal muscle disease";"98472";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Muscular dystrophy";"98473";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic inflammatory myopathy";"98482";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive isolated optic atrophy";"98676";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant optic atrophy, classic form";"98673";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary optic neuropathy";"98671";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant optic atrophy";"98672";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vitreoretinopathy";"98668";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic rod-cone dystrophy";"98661";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Color-vision disease";"98658";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lens shape anomaly";"98655";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lens position anomaly";"98653";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lens size anomaly";"98652";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniofacial anomaly with cataract";"98650";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dentocutaneous disease with cataract";"98649";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pulmonary veins anomaly";"98729";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare atrial defect and interatrial communication";"98727";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Noonan syndrome and Noonan-related syndrome";"98733";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital arteriovenous fistula";"98731";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurological muscular channelopathy due to a genetic sodium channel defect";"98738";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic neurological muscular channelopathy";"98737";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurological muscular channelopathy due to a genetic ryanodine receptor defect";"98742";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurological muscular channelopathy due to a genetic potassium channel defect";"98741";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurological muscular channelopathy due to a genetic calcium channel defect";"98740";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurological muscular channelopathy due to a genetic chloride channel defect";"98739";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transposition of the great arteries and conotruncal cardiac anomaly";"98717";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital dyserythropoietic anemia type I";"98869";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital dyserythropoietic anemia type III";"98870";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked Emery-Dreifuss muscular dystrophy";"98863";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive Emery-Dreifuss muscular dystrophy";"98855";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 2B1";"98856";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial dysfibrinogenemia";"98881";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial afibrinogenemia";"98880";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemophilia B";"98879";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemophilia A";"98878";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multifocal pattern dystrophy simulating fundus flavimaculatus";"99003";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fundus pulverulentus";"99004";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic paraplegia type 7";"99013";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Muscular tumor";"206982";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked Charcot-Marie-Tooth disease type 5";"99014";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic paraplegia type 2";"99015";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unstable hemoglobin disease";"99139";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphedema-posterior choanal atresia syndrome";"99141";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital partial agenesis of pericardium";"99130";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital complete agenesis of pericardium";"99129";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pleuro-pericardial cyst";"99131";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "48,XYYY syndrome";"99329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "49,XYYYY syndrome";"99330";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic monosomy X";"99228";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paternal uniparental disomy of chromosome 13";"99324";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial medullary thyroid carcinoma";"99361";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated distichiasis";"99177";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital eyelid retraction";"99176";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Monosomy X";"99226";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kandori fleck retina";"99179";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tarsal kink syndrome";"99170";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epiblepharon";"99169";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Euryblepharon";"99172";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital ectropion";"99171";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary dystonia, DYT2 type";"99657";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complete androgen insensitivity syndrome";"99429";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepimetaphyseal dysplasia, Handigodu type";"99642";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pituitary adenoma";"99408";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Turner syndrome due to structural X chromosome anomalies";"99413";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cheirospondyloenchondromatosis";"99647";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria";"99646";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dermotrichic syndrome";"99688";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fried's tooth and nail syndrome";"99672";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leber plus disease";"99718";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pituitary gigantism";"99725";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mesial temporal lobe epilepsy with hippocampal sclerosis";"99701";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset obesity-hyperphagia-severe developmental delay syndrome";"99704";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Punctate acrokeratoderma freckle-like pigmentation";"99710";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated sulfite oxidase deficiency";"99731";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult-onset autosomal dominant leukodystrophy";"99027";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenitally uncorrected transposition of the great arteries with coarctation";"99042";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis";"99043";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Double outlet right ventricle with subpulmonary ventricular septal defect";"99045";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Double outlet right ventricle with non-committed subpulmonary ventricular septal defect";"99046";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome";"99048";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Abnormal origin of right or left pulmonary artery from the aorta";"99050";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary artery coming from patent ductus arteriosus";"99049";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Discrete fibromuscular subaortic stenosis";"99052";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Discrete fixed membranous subaortic stenosis";"99051";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Valvular pulmonary stenosis";"99054";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tunnel subaortic stenosis";"99053";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Parachute tricuspid valve";"99056";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital anomaly of the tricuspid valve chordae";"99055";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypoplasia of the mitral valve annulus";"99058";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital mitral stenosis";"99057";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rickettsial disease";"102021";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 4A";"99948";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2A2";"99947";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 4D";"99950";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 4C";"99949";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 4F";"99952";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 4E";"99951";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 4H";"99954";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2J";"99943";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2A1";"99946";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2L";"99945";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic pulmonary hemosiderosis";"99931";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Heiner syndrome";"99932";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pleuropulmonary blastoma type 1";"99933";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pleuropulmonary blastoma type 2";"99934";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pleuropulmonary blastoma type 3";"99935";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "C3 glomerulopathy";"329918";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2B";"99936";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thymoma";"99867";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Turcot syndrome with polyposis";"99818";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial gestational hyperthyroidism";"99819";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lassa fever";"99824";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nipah virus disease";"99825";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Marburg hemorrhagic fever";"99826";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Subcortical band heterotopia";"99796";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oligodontia";"99798";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anodontia";"99797";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemimegalencephaly";"99802";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Haddad syndrome";"99803";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculootodental syndrome";"99806";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PEHO-like syndrome";"99807";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial porencephaly";"99810";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dentin dysplasia type I";"99789";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dentin dysplasia type II";"99791";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dentin dysplasia-sclerotic bones syndrome";"99792";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft velum";"99772";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bifid uvula";"99771";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic trisomy 9";"99776";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lissencephaly with cerebellar hypoplasia type A";"100011";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lissencephaly with cerebellar hypoplasia type D";"100014";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lissencephaly with cerebellar hypoplasia type C";"100013";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ACys amyloidosis";"100008";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intraneural perineurioma";"100003";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ABeta amyloidosis, Dutch type";"100006";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Reticular perineurioma";"100000";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sclerosing perineurioma";"100001";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extraneural perineurioma";"100002";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complex regional pain syndrome type 1";"99995";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Relapsing epidemic typhus";"99991";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complex regional pain syndrome type 2";"99994";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intermediate DEND syndrome";"99989";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brill-Zinsser disease";"99990";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cutaneous myiasis";"99983";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Apnea of prematurity";"99981";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Klatskin tumor";"99978";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of the esophagus";"99977";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenocarcinoma of the esophagus";"99976";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Well-differentiated liposarcoma";"99971";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pleomorphic liposarcoma";"99969";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dedifferentiated liposarcoma";"99970";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myxoid/round cell liposarcoma";"99967";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "O'Sullivan-McLeod syndrome";"99965";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical teratoid rhabdoid tumor";"99966";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign recurrent intrahepatic cholestasis type 2";"99961";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign recurrent intrahepatic cholestasis type 1";"99960";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 4B1";"99955";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 4B2";"99956";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital stromal corneal dystrophy";"101068";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unilateral hemispheric polymicrogyria";"101071";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bilateral frontoparietal polymicrogyria";"101070";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Situs inversus totalis";"101063";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft hard palate";"101023";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 29";"101009";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal spastic paraplegia type 30";"101010";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 31";"101011";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Romano-Ward syndrome";"101016";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Female restricted epilepsy with intellectual disability";"101039";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transaldolase deficiency";"101028";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Subependymal nodular heterotopia";"101030";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sub-cortical nodular heterotopia";"101029";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 19";"100999";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 20";"101000";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 17";"100998";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 27";"101007";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 28";"101008";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 25";"101005";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 26";"101006";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 23";"101003";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 24";"101004";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 21";"101001";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated thyrotropin-releasing hormone deficiency";"238670";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital hypogonadotropic hypogonadism";"238666";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital primary megaureter, nonrefluxing and unobstructed form";"238654";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Facial cleft";"141229";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital primary megaureter, refluxing form";"238650";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Susceptibility to infection due to TYK2 deficiency";"331226";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyper-IgE syndrome";"331223";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Selective IgM deficiency";"331235";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells";"331232";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Other immunodeficiency syndrome with predominantly antibody defects";"331244";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells";"331240";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency syndrome with hypopigmentation";"331249";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency";"331176";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Constitutional neutropenia with extra-hematopoietic manifestations";"331184";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency due to MASP-2 deficiency";"331187";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency due to ficolin3 deficiency";"331190";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Other immunodeficiency syndromes due to defects in innate immunity";"331193";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe combined immunodeficiency due to complete RAG1/2 deficiency";"331206";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome with combined immunodeficiency";"331217";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency due to absence of thymus";"331220";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability";"330206";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic actinic dermatitis";"330064";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wild type ATTR amyloidosis";"330001";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic neuroendocrine tumor of appendix";"329977";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Goblet cell carcinoma";"329984";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "High altitude pulmonary edema";"330012";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic diaphragmatic or abdominal wall malformation";"108977";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic diaphragmatic or abdominal wall malformation";"108979";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic intestinal malformation";"108969";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic visceral malformation";"108971";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic visceral malformation";"108973";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic esophageal malformation";"108961";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic gastroduodenal malformation";"108963";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic gastroduodenal malformation";"108965";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic intestinal malformation";"108967";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unclassified intestinal pseudoobstruction";"104078";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic esophageal malformation";"108959";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Human herpesvirus 8-related disorder";"102024";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unexplained periodic fever syndrome";"102237";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple congenital anomalies/dysmorphic syndrome-intellectual disability";"102283";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple congenital anomalies/dysmorphic syndrome without intellectual disability";"102285";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare syndromic intellectual disability";"102369";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Typhus-group rickettsiosis";"102023";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spotted fever rickettsiosis";"102022";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nephrogenic systemic fibrosis";"137617";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lead poisoning";"330015";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemoglobin Lepore-beta-thalassemia syndrome";"330032";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemoglobin M disease";"330041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mercury poisoning";"330021";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypotrichosis-deafness syndrome";"330029";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hydroa vacciniforme";"330058";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Actinic prurigo";"330061";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect";"330050";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome";"330054";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic genome-wide paternal uniparental disomy";"329813";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "5p13 microduplication syndrome";"329802";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-hypoproteinemic hypertrophic gastropathy";"329883";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic giant cell myocarditis";"329874";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic paraplegia-Paget disease of bone syndrome";"329475";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lipoprotein glomerulopathy";"329481";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult-onset distal myopathy due to VCP mutation";"329478";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transient neonatal multiple acyl-CoA dehydrogenase deficiency";"329942";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "C3 glomerulonephritis";"329931";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Generalized juvenile polyposis/juvenile polyposis coli";"329971";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intermittent hydrarthrosis";"329967";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile overlap myositis";"329894";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile idiopathic inflammatory myopathy";"329888";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunoglobulin-mediated membranoproliferative glomerulonephritis";"329903";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fatty acid hydroxylase-associated neurodegeneration";"329308";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency";"329314";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thrombocythemia with distal limb defects";"329319";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inverse Klippel-Trénaunay syndrome";"329324";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beta-propeller protein-associated neurodegeneration";"329284";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PLA2G6-associated neurodegeneration";"329303";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal arthrogryposis type 5D";"329457";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant focal dystonia, DYT25 type";"329466";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute megakaryoblastic leukemia without Down syndrome";"329469";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive frontotemporal pachygyria";"329329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome";"329332";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glutathione synthetase deficiency with 5-oxoprolinuria";"289846";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pierre Robin syndrome associated with a chromosomal anomaly";"138047";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disease with Pierre Robin syndrome";"138044";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pierre Robin syndrome associated with bone disease";"138055";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pierre Robin syndrome associated with branchial archs anomalies";"138050";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Teratogenic Pierre Robin syndrome";"138059";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Facial dermoid cyst";"141051";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lower lip fistula";"141064";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Commissural lip fistula";"141061";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Digestive duplication cyst of the tongue";"141071";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cervicofacial fibrochondroma";"141067";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "External auditory canal aplasia/hypoplasia";"141074";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inherited cancer-predisposing syndrome";"140162";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypomyelination with atrophy of basal ganglia and cerebellum";"139441";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leukoencephalopathy with bilateral anterior temporal lobe cysts";"139444";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive cavitating leukoencephalopathy";"139447";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome";"139450";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive bestrophinopathy";"139455";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SERKAL syndrome";"139466";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microphthalmia with brain and digit anomalies";"139471";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "17q11.2 microduplication syndrome";"139474";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 39";"139480";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive ataxia due to ubiquinone deficiency";"139485";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dietary iron overload disease";"139507";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 4J";"139515";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuropathy with hearing impairment";"139512";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CLOVES syndrome";"140944";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuro-ophthalmological disease";"140653";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy";"329336";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephalic primordial dwarfism due to ZNF335 deficiency";"329228";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome";"329224";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebral sinovenous thrombosis";"329217";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant neovascular inflammatory vitreoretinopathy";"329211";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Developmental delay with autism spectrum disorder and gait instability";"329195";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tall stature-long halluces-multiple extra-epiphyses syndrome";"329191";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital muscular dystrophy with intellectual disability and severe epilepsy";"329178";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2Q";"329258";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency";"329249";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital chronic diarrhea with protein-losing enteropathy";"329242";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked central congenital hypothyroidism with late-onset testicular enlargement";"329235";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis";"329173";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic 46,XX difference of sex development";"325697";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic difference of sex development";"325690";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic 46,XY difference of sex development of endocrine origin";"325713";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic 46,XY difference of sex development";"325706";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of purine metabolism";"79191";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Klüver-Bucy syndrome";"157823";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital epulis";"157826";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pseudoarthrosis of the limbs";"157808";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cold-induced sweating syndrome";"157820";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Serrated polyposis syndrome";"157798";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mesoaxial synostotic syndactyly with phalangeal reduction";"157801";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epithelioid hemangioendothelioma";"157791";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary mixed polyposis syndrome";"157794";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Situs ambiguus";"157769";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Late infantile CACH syndrome";"157716";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile or adult CACH syndrome";"157719";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital or early infantile CACH syndrome";"157713";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dyssegmental dysplasia, Rolland-Desbuquois type";"156731";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary hypophosphatemic rickets with hypercalciuria";"157215";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated dystonia";"156159";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinal ciliopathy";"156165";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal ciliopathy";"156162";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Predominantly small-vessel vasculitis";"156146";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Predominantly medium-vessel vasculitis";"156143";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anti-neutrophil cytoplasmic antibody-associated vasculitis";"156152";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immune complex mediated vasculitis";"156149";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary early-onset glaucoma";"156005";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Predominantly large-vessel vasculitis";"156140";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coloboma of inferior eyelid";"155889";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coloboma of superior eyelid";"155884";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mandibulofacial dysostosis";"155899";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Otomandibular dysplasia";"155896";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome or malformation associated with head and neck malformations";"156237";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pinnae and external auditory canal anomaly";"156243";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nose and cavum anomaly";"156246";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Larynx anomaly";"156249";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypoglossia/aglossia";"156212";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oromandibular-limb anomalies syndrome";"156215";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paralytic facial malformation";"156224";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Facial arteriovenous malformation";"156230";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinal ciliopathy due to mutation in nephronophthisis gene";"156180";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macroglossia";"156207";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trigeminal autonomic cephalalgia";"157843";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuroferritinopathy";"157846";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniorhiny";"157832";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paroxysmal hemicrania";"157835";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Huntington disease-like 1";"157941";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pantothenate kinase-associated neurodegeneration";"157850";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Huntington disease-like 3";"157946";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome with difference of sex development of gynecological interest";"325638";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic difference of sex development of gynecological interest";"325665";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Difference of sex development of gynecological interest";"325620";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY difference of sex development of gynecological interest";"325632";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY difference of sex development due to a cholesterol synthesis defect";"325511";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic congenital lipoid adrenal hyperplasia due to STAR deficency";"325524";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY difference of sex development due to impaired androgen production";"325357";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leydig cell hypoplasia due to LHB deficiency";"325448";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sex chromosome difference of sex development";"325546";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency";"325529";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY difference of sex development induced by maternal exposure to endocrine disruptors";"325537";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Testicular agenesis";"325124";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY disorder of gonadal development";"325118";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY difference of sex development of endocrine origin";"325351";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Posttransplant acute limbic encephalitis";"163921";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked dominant chondrodysplasia, Chassaing-Lacombe type";"163966";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Cilliers type";"163971";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Febrile infection-related epilepsy syndrome";"163703";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome";"163727";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rolandic epilepsy-speech dyspraxia syndrome";"163721";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leukoencephalopathy-dystonia-motor neuropathy syndrome";"163684";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Babesiosis";"108";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CNTNAP2-related developmental and epileptic encephalopathy";"163681";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alveolar soft tissue sarcoma";"163699";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Action myoclonus-renal failure syndrome";"163696";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "2p21 microdeletion syndrome";"163693";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypotonia-cystinuria syndrome";"163690";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cap polyposis";"160148";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemophagocytic syndrome associated with an infection";"158048";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired hemophagocytic lymphohistiocytosis associated with malignant disease";"158057";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrophage activation syndrome";"158061";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic dementia";"158124";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Huntington disease-like syndrome";"158266";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic hematologic disease";"158300";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign cephalic histiocytosis";"157997";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Generalized eruptive histiocytosis";"157991";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-Langerhans cell histiocytosis";"157987";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Necrobiotic xanthogranuloma";"158011";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Papular xanthoma";"158008";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Xanthoma disseminatum";"158003";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile xanthogranuloma";"158000";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary progressive mucinous histiocytosis";"158025";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive nodular histiocytosis";"158022";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Indeterminate cell histiocytosis";"158019";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rosaï-Dorfman disease";"158014";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary hemophagocytic lymphohistiocytosis";"158041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary hemophagocytic lymphohistiocytosis";"158038";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemophagocytic syndrome";"158032";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sea-blue histiocytosis";"158029";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ANE syndrome";"157954";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculoauricular syndrome, Schorderet type";"157962";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency with granulomatosis";"157949";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital muscular dystrophy due to LMNA mutation";"157973";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome";"157965";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Plaque-form urticaria pigmentosa";"158769";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Typical urticaria pigmentosa";"158766";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal acantholytic erosive disorder";"158687";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidermolysis bullosa simplex with pyloric atresia";"158684";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidermolysis bullosa simplex with circinate migratory erythema";"158681";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Localized dystrophic epidermolysis bullosa, nails only";"158676";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY ovotesticular difference of sex development";"325345";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XX disorder of gonadal development";"325055";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XX difference of sex development induced by fetoplacental androgens excess";"325061";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unexplained periodic fever syndrome of childhood";"324960";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis";"324964";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proteasome-associated autoinflammatory syndrome";"324977";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Periodic fever syndrome of childhood";"324939";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyogenic autoinflammatory syndrome of childhood";"324942";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Granulomatous autoinflammatory syndrome of childhood";"324950";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unclassified autoinflammatory syndrome of childhood";"324953";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyogenic autoinflammatory syndrome";"324927";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Granulomatous autoinflammatory syndrome";"324930";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mixed autoinflammatory and autoimmune syndrome";"324933";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unclassified autoinflammatory syndrome";"324936";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trichorhinophalangeal syndrome";"324764";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephalic primordial dwarfism";"324761";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary periodic fever syndrome";"324924";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-familial rare disease with dilated cardiomyopathy";"324767";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple epiphyseal dysplasia, Beighton type";"166011";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple epiphyseal dysplasia, Lowry type";"166016";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple epiphyseal dysplasia due to collagen 9 anomaly";"166002";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary peritoneal carcinoma";"168829";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peritoneal cystic mesothelioma";"168816";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant peritoneal mesothelioma";"168811";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary malignant peritoneal tumor";"168807";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary peritoneal tumor";"168803";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Heart-hand syndrome, Slovenian type";"168796";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Childhood disintegrative disorder";"168782";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Refractory anemia with excess blasts in transformation";"168960";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2";"168943";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic eosinophilic leukemia";"168940";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare cardiac tumor";"168194";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary persistence of alpha-fetoprotein";"168615";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital deficiency in alpha-fetoprotein";"168612";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysplasia of head of femur, Meyer type";"168621";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal thrombocytopenia with normal platelets";"168629";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial scaphocephaly syndrome, McGillivray type";"168624";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare pervasive developmental disorder";"168778";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Generalized basaloid follicular hamartoma syndrome";"168632";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary North American Indian childhood cirrhosis";"168583";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary cryohydrocytosis with reduced stomatin";"168577";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sudden infant death-dysgenesis of the testes syndrome";"168593";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperandrogenism due to cortisone reductase deficiency";"168588";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital enteropathy due to enteropeptidase deficiency";"168601";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methionine adenosyltransferase I/III deficiency";"168598";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Seborrhea-like dermatitis with psoriasiform elements";"168606";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Axial spondylometaphyseal dysplasia";"168549";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome";"168552";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondylometaphyseal dysplasia, A4 type";"168555";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency";"168558";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome";"168563";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3";"168566";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "H syndrome";"168569";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Native American myopathy";"168572";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome";"168443";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome";"168451";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepimetaphyseal dysplasia, Geneviève type";"168454";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Reticulate acropigmentation of Kitamura";"178307";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ABetaA21G amyloidosis";"324718";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ABeta amyloidosis, Italian type";"324713";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SRD5A3-CDG";"324737";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ABeta amyloidosis, Arctic type";"324723";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Invasive non-typhoidal salmonellosis";"324648";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoerythrocyte sensitization syndrome";"324636";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ABeta amyloidosis, Iowa type";"324708";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ABetaL34V amyloidosis";"324703";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation";"324611";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic multiminicore myopathy";"324604";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hendra virus infection";"324632";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chikungunya";"324625";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial dyskinesia and facial myokymia";"324588";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked cleft palate and ankyloglossia";"324601";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign Samaritan congenital myopathy";"324581";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain";"324585";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pontocerebellar hypoplasia type 8";"324569";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperinsulinism due to HNF1A deficiency";"324575";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome";"324540";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypopigmentation-punctate palmoplantar keratoderma syndrome";"324561";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation";"324530";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 11";"324535";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cernunnos-XLF deficiency";"169079";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CLAPO syndrome";"168984";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant melanoma of the mucosa";"168999";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunoglobulin heavy chain deficiency";"169110";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency due to CD25 deficiency";"169100";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Good syndrome";"169105";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to CRAC channel dysfunction";"169090";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe combined immunodeficiency due to FOXN1 deficiency";"169095";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to CD3gamma deficiency";"169082";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Susceptibility to respiratory infections associated with CD8alpha chain mutation";"169085";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Composite lymphoma";"168966";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypereosinophilic syndrome";"168956";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immuno-osseous dysplasia";"169349";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bleeding disorder in hemophilia A carriers";"177926";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bleeding disorder in hemophilia B carriers";"177929";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations";"178025";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Central diabetes insipidus";"178029";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1";"177901";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2";"177904";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Prader-Willi syndrome due to translocation";"177907";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Prader-Willi syndrome due to imprinting mutation";"177910";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare adult hypothyroidism";"177101";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic hypothyroidism";"177107";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital hypogonadotropic hypogonadism";"174590";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "8q22.1 microdeletion syndrome";"178303";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Antenatal multiminicore disease with arthrogryposis multiplex congenita";"178148";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Moderate multiminicore disease with hand involvement";"178145";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare peripheral precocious puberty";"178040";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transient congenital hypothyroidism";"178045";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary cutaneous T-cell lymphoma";"171901";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "B-cell non-Hodgkin lymphoma";"171915";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myeloid hemopathy";"171895";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphoid hemopathy";"171898";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital myopathy with cores";"172976";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "T-cell non-Hodgkin lymphoma";"171918";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trisomy 10p";"171929";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Parkinsonian-pyramidal syndrome";"171695";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diffuse panbronchiolitis";"171700";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-polymicrogyria-corpus callosum agenesis syndrome";"171703";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature-delayed bone age due to thyroid hormone metabolism deficiency";"171706";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Male infertility due to globozoospermia";"171709";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation";"324525";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive axonal neuropathy with neuromyotonia";"324442";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome";"324416";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ALG13-CDG";"324422";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome";"324410";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary inclusion body myopathy type 4";"324381";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mixed sclerosing bone dystrophy with extra-skeletal manifestations";"324364";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital achiasma";"324353";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sinoatrial node dysfunction and deafness";"324321";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "9p13 microdeletion syndrome";"324313";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome";"324307";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple paragangliomas associated with polycythemia";"324299";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "T-cell immunodeficiency with epidermodysplasia verruciformis";"324294";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset Lafora body disease";"324290";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic tumor of hematopoietic and lymphoid tissues";"322126";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency";"324262";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoinflammatory syndrome of childhood";"319719";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked pure spastic paraplegia";"320332";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pure or complex hereditary spastic paraplegia";"320335";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pure or complex autosomal dominant spastic paraplegia";"320342";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pure or complex autosomal recessive spastic paraplegia";"320346";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pure or complex X-linked spastic paraplegia";"320350";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disease with autism";"180772";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malformative syndrome with dentinogenesis imperfecta";"180766";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Supernumerary breasts";"180182";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Longitudinal vaginal septum";"180157";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deficient breast volume or number";"180173";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial juvenile hypertrophy of the breast";"180176";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Excess breast volume or number";"180170";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aggressive primary cutaneous T-cell lymphoma";"178551";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Indolent primary cutaneous T-cell lymphoma";"178548";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Indolent primary cutaneous B-cell lymphoma";"178557";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aggressive primary cutaneous B-cell lymphoma";"178554";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary cutaneous B-cell lymphoma";"178563";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mycosis fungoides and variants";"178566";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired neutropenia";"178996";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary immunodeficiency due to a defect in adaptive immunity";"179006";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infant botulism";"178478";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intestinal botulism";"178481";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant non-syndromic intellectual disability";"178469";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wound botulism";"178475";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked myopathy with postural muscle atrophy";"178461";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary myopathy with early respiratory failure";"178464";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation";"178396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal myopathy with anterior tibial onset";"178400";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital vertical talus";"178382";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteopetrosis-hypogammaglobulinemia syndrome";"178389";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic microphthalmia type 5";"178364";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteosclerosis-developmental delay-craniosynostosis syndrome";"178377";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aromatase excess syndrome";"178345";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Smith-McCort dysplasia";"178355";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "UV-sensitive syndrome";"178338";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inflammatory myofibroblastic tumor";"178342";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary cutaneous diffuse large B-cell lymphoma, leg type";"178544";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary cutaneous follicle center lymphoma";"178540";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary cutaneous marginal zone B-cell lymphoma";"178536";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary cutaneous gamma/delta-positive T-cell lymphoma";"178533";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated sternocostoclavicular hyperostosis";"178311";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hyperthyroidism";"181399";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Growth hormone insensitivity syndrome";"181393";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hypothyroidism";"181396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MT-ATP6-related mitochondrial spastic paraplegia";"320360";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 41";"320355";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 43";"320370";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 36";"320365";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 54";"320380";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 55";"320375";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 46";"320391";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary sensory and autonomic neuropathy due to TECPR2 mutation";"320385";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 44";"320401";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 45";"320396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 56";"320411";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic paraplegia-optic atrophy-neuropathy syndrome";"320406";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency";"319543";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency";"319547";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency";"319535";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency";"319539";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 14";"319519";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 15";"319524";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 9";"319509";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 13";"319514";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency";"319589";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency";"319595";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency";"319574";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency";"319581";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency";"319563";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Viral myositis";"206991";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency";"319569";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile cerebellar-retinal degeneration";"313850";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic neurodegenerative disease";"183500";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic photodermatosis";"183490";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic immune deficiency with skin involvement";"183494";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic subcutaneous tissue disorder";"183484";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic skin tumor or hamartoma";"183487";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic skin vascular disorder";"183478";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic mixed dermis disorder";"183481";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic dermis disorder";"183472";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic hyperpigmentation of the skin";"183466";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic hypopigmentation of the skin";"183469";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic sebaceous gland anomaly";"183460";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic pigmentation anomaly of the skin";"183463";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic erythrokeratoderma";"183438";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inherited ichthyosis";"183435";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic porokeratosis";"183444";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic acrokeratoderma";"183441";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic hair anomaly";"183450";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic epidermal appendage anomaly";"183447";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic nail anomaly";"183454";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Systemic autoimmune disease";"182228";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare systemic disease";"182222";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare rheumatologic disease";"182231";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic urticaria";"182734";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic epidermal disorder";"183426";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polymalformative genetic syndrome with increased risk of developing cancer";"183422";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Respiratory malformation";"182111";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare urogenital tumor";"182114";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic urogenital tract malformation of female";"182117";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extragonadal germinoma";"182127";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency";"319552";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency";"319558";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Constitutional megaloblastic anemia with severe neurologic disease";"319651";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PGM1-CDG";"319646";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinal macular dystrophy type 2";"319640";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amyloidosis cutis dyschromia";"319635";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency";"319623";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency";"319612";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked mendelian susceptibility to mycobacterial diseases";"319605";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency";"319600";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MiT family translocation renal cell carcinoma";"319308";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive myogenic arthrogryposis multiplex congenita";"319332";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inherited renal cancer-predisposing syndrome";"319328";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carney complex-trismus-pseudocamptodactyly syndrome";"319340";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial papillary or follicular thyroid carcinoma";"319487";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloid leukemia with CEBPA somatic mutations";"319480";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 8";"319504";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial nonmedullary thyroid carcinoma";"319494";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inherited acute myeloid leukemia";"319465";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sydenham chorea";"306731";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Muscular dystrophy, Selcen type";"199340";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pancreatic insufficiency-anemia-hyperostosis syndrome";"199337";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic intellectual disability";"183757";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Agammaglobulinemia";"183669";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyper-IgM syndrome without susceptibility to opportunistic infections";"183666";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyper-IgM syndrome with susceptibility to opportunistic infections";"183663";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neutrophil immunodeficiency syndrome";"183707";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Functional neutrophil defect";"183681";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hermansky-Pudlak syndrome due to AP-3 deficiency";"183678";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Recurrent infections associated with rare immunoglobulin isotypes deficiency";"183675";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic gynecological and obstetrical diseases";"183731";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bacterial susceptibility due to TLR signaling pathway deficiency";"183713";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Marshall syndrome";"560";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic susceptibility to infections due to particular pathogens";"183710";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic gynecological tumor";"183734";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare constitutional anemia";"183651";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe combined immunodeficiency";"183660";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic coagulation disorder";"183654";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic adrenal disease";"183637";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic polyendocrinopathy";"183643";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic microphthalmia-anophthalmia-coloboma";"202948";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anomaly of puberty or/and menstrual cycle of genetic origin";"202940";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile Krabbe disease";"206436";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypoxanthine-guanine phosphoribosyltransferase deficiency";"206428";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers";"206546";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant non-dysgerminomatous germ cell tumor of ovary";"206538";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fukutin-related limb-girdle muscular dystrophy R13";"206554";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anoctamin-5-related limb-girdle muscular dystrophy R12";"206549";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "POMGNT1-related limb-girdle muscular dystrophy R15";"206564";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "POMT2-related limb-girdle muscular dystrophy R14";"206559";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Overlap myositis";"206572";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immune-mediated necrotizing myopathy";"206569";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive lower motor neuron disease with childhood onset";"206580";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rippling muscle disease with myasthenia gravis";"206575";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Late-infantile/juvenile Krabbe disease";"206443";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult Krabbe disease";"206448";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cystadenoma of childhood";"206470";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gonadoblastoma";"206484";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations";"319462";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bilateral massive adrenal hemorrhage";"319205";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lujo hemorrhagic fever";"319213";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chondroectodermal dysplasia with night blindness";"319195";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 53";"319199";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bolivian hemorrhagic fever";"319229";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Venezuelan hemorrhagic fever";"319234";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ebola hemorrhagic fever";"319218";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Argentine hemorrhagic fever";"319223";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital myopathy with internal nuclei and atypical cores";"319160";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal 17p13.1 microdeletion syndrome";"319171";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial cortical myoclonus";"319189";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diencephalic-mesencephalic junction dysplasia";"319192";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wiedemann-Steiner syndrome";"319182";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "T-B- severe combined immunodeficiency";"317419";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "T-B+ severe combined immunodeficiency";"317416";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to ORAI1 deficiency";"317428";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe combined immunodeficiency due to DNA-PKcs deficiency";"317425";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to STIM1 deficiency";"317430";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pancytopenia due to IKZF1 mutations";"317473";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia";"317476";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune disease with skin involvement";"315350";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form";"315311";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form";"315306";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cataract-congenital heart disease-neural tube defect syndrome";"314993";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked non progressive cerebellar ataxia";"314978";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphocytic hypereosinophilic syndrome";"314970";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary hypereosinophilic syndrome";"314962";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary hypereosinophilic syndrome";"314950";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mild Canavan disease";"314918";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe Canavan disease";"314911";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of chromosome 12";"316244";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic ataxia";"316235";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic ataxia";"316240";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic ataxia";"316226";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary systemic amyloidosis";"314701";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired porencephaly";"314697";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary localized amyloidosis";"314709";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebrofacioarticular syndrome";"314679";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infectious, fungal or parasitic myopathy";"206988";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial cerebral cavernous malformation";"221061";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ankylostomiasis";"78";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Systemic inflammatory disease associated with an acquired peripheral neuropathy";"209007";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peripheral neuropathy associated with monoclonal gammopathy";"209010";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paraneoplastic sensory ganglionopathy";"208999";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy";"209004";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-paraneoplastic sensory ganglionopathy";"208989";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired sensory ganglionopathy";"208984";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic acquired demyelinating polyneuropathy";"208974";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic polyradiculoneuropathy";"208978";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cryopyrin-associated periodic syndrome";"208650";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic hypoparathyroidism";"208593";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic hyperparathyroidism";"208596";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 29";"208513";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Herpetiform pemphigus";"208524";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brain-lung-thyroid syndrome";"209905";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency";"209902";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IRVAN syndrome";"209943";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cone dystrophy with supernormal rod response";"209932";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic copper-associated cirrhosis";"209919";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extraskeletal myxoid chondrosarcoma";"209916";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe neonatal-onset encephalopathy with microcephaly";"209370";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant rhegmatogenous retinal detachment";"209867";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dystonia 16";"210571";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mal de débarquement";"210272";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrocephaly-intellectual disability-autism syndrome";"210548";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult hepatocellular carcinoma";"210159";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital lethal myopathy, Compton-North type";"210163";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inherited congenital spastic tetraplegia";"210141";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal polymalformative syndrome, Boissel type";"210144";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Serous carcinoma of the corpus uteri";"213726";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Endometrial stromal sarcoma";"213711";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of the corpus uteri";"213716";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transitional cell carcinoma of the corpus uteri";"213746";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "High-grade neuroendocrine carcinoma of the corpus uteri";"213731";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Low-grade neuroendocrine tumor of the corpus uteri";"213736";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenocarcinoma of the cervix uteri";"213772";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of the cervix uteri";"213767";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare cancer of cervix uteri";"213761";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant germ cell tumor of the corpus uteri";"213751";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenosarcoma of the cervix uteri";"213792";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carcinosarcoma of the cervix uteri";"213787";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant mixed epithelial and mesenchymal tumor of cervix uteri";"213782";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "High-grade neuroendocrine carcinoma of the cervix uteri";"213777";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primitive neuroectodermal tumor of the cervix uteri";"213812";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leiomyosarcoma of the cervix uteri";"213807";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rhabdomyosarcoma of the cervix uteri";"213802";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sarcoma of cervix uteri";"213797";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glassy cell carcinoma of the cervix uteri";"213833";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenoid basal carcinoma of the cervix uteri";"213828";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenoid cystic carcinoma of the cervix uteri";"213823";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant germ cell tumor of the cervix uteri";"213837";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transposition of the great arteries";"216675";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenitally corrected transposition of the great arteries";"216694";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bockenheimer syndrome";"217008";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuroendocrine cell hyperplasia of infancy";"217560";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary interstitial glycogenosis";"217557";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Marchiafava-Bignami disease";"221074";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined hyperactive dysfunction syndrome of the cranial nerves";"221078";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemifacial spasm";"221083";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trigeminal neuralgia";"221091";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glossopharyngeal neuralgia";"221098";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cranial neuralgia";"221109";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired peripheral movement disorder";"221114";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rothmund-Thomson syndrome type 1";"221008";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rothmund-Thomson syndrome type 2";"221016";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary sclerosing poikiloderma, Weary type";"221039";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome";"221043";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Poikiloderma with neutropenia";"221046";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrocephalopolydactyly";"221054";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial infantile bilateral striatal necrosis";"225154";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TFR2-related hemochromatosis";"225123";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sporadic infantile bilateral striatal necrosis";"225147";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary poikiloderma";"222628";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial oxidative phosphorylation disorder";"223713";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphoma";"223735";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bone sarcoma";"223727";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gerstmann syndrome";"221117";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudoaminopterin syndrome";"221120";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fowler vasculopathy";"221126";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency with facio-oculo-skeletal anomalies";"221139";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Confetti-like macular atrophy";"221142";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies";"221145";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Permanent congenital hypothyroidism";"226292";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Central congenital hypothyroidism";"226298";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary congenital hypothyroidism";"226295";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypothyroidism due to deficient transcription factors involved in pituitary development or function";"226307";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amino acid or protein metabolism disease with epilepsy";"225689";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metal transport or utilization disorder with epilepsy";"225692";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Energy metabolism disorder with epilepsy";"225696";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial disease with epilepsy";"225700";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lysosomal disease with epilepsy";"225681";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peroxisomal disease with epilepsy";"225686";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial disease with peripheral neuropathy";"225703";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metabolic neurotransmission anomaly with epilepsy";"225707";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sterol metabolism disorder with epilepsy";"225710";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Other metabolic disease with epilepsy";"225713";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Monocytopenia with susceptibility to infections";"228423";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "5q35 microduplication syndrome";"228415";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated agammaglobulinemia";"229717";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic agammaglobulinemia";"229720";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic multisystem autoimmune disease due to Itch deficiency";"228426";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome";"228396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondylo-megaepiphyseal-metaphyseal dysplasia";"228387";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Frontonasal dysplasia-alopecia-genital anomalies syndrome";"228390";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Elastoderma";"228240";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Usher syndrome type 2";"231178";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to partial RAG1 deficiency";"231154";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial cerebral saccular aneurysm";"231160";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Usher syndrome type 1";"231169";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Silver-Russell syndrome due to 7p11.2p13 microduplication";"231137";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Silver-Russell syndrome due to an imprinting defect of 11p15";"231140";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Silver-Russell syndrome due to 11p15 microduplication";"231144";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11";"231147";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beckwith-Wiedemann syndrome due to CDKN1C mutation";"231120";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beckwith-Wiedemann syndrome due to 11p15 microdeletion";"231127";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion";"231130";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "High-grade dysplasia in patients with Barrett esophagus";"231080";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rhabdoid tumor predisposition syndrome";"231108";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Drug-induced lupus erythematosus";"231111";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15";"231117";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial generalized lentiginosis";"231040";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ehlers-Danlos/osteogenesis imperfecta syndrome";"230857";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cardiac-valvular Ehlers-Danlos syndrome";"230851";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Erythema palmare hereditarium";"231031";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital trigeminal anesthesia";"231013";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Toxin-mediated infectious botulism";"230800";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classical-like Ehlers-Danlos syndrome type 1";"230839";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hermansky-Pudlak syndrome due to BLOC-1 deficiency";"231531";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hermansky-Pudlak syndrome due to BLOC-2 deficiency";"231512";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hermansky-Pudlak syndrome due to BLOC-3 deficiency";"231500";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute sensory ataxic neuropathy";"231466";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic vascular disease";"233655";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital vascular bone syndrome";"235832";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hyperaldosteronism";"235936";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infundibulo-neurohypophysitis";"238305";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "AApoAII amyloidosis";"238269";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "15q11q13 microduplication syndrome";"238446";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe X-linked mitochondrial encephalomyopathy";"238329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital erosive and vesicular dermatosis";"231573";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ectopic aldosterone-producing tumor";"231632";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital primary megaureter, obstructed form";"238646";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary megaureter, adult-onset form";"238642";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic obesity";"240371";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic progressive supranuclear palsy syndrome";"240071";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive supranuclear palsy-progressive non-fluent aphasia syndrome";"240112";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive supranuclear palsy-corticobasal syndrome";"240103";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive supranuclear palsy-pure akinesia with gait freezing syndrome";"240094";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive supranuclear palsy-parkinsonism syndrome";"240085";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dominant hypophosphatemia with nephrolithiasis or osteoporosis";"244305";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Biliary atresia with splenic malformation syndrome";"244283";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "RFT1-CDG";"244310";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "HELLP syndrome";"244242";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "De novo thrombotic microangiopathy after kidney transplantation";"244275";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dimethylglycine dehydrogenase deficiency";"243343";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute fatty liver of pregnancy";"243367";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nijmegen breakage syndrome-like disorder";"240760";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to STK4 deficiency";"314689";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary bone lymphoma";"314684";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Variant ABeta2M amyloidosis";"314652";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-progressive cerebellar ataxia with intellectual disability";"314647";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Segmental progressive overgrowth syndrome with fibroadipose hyperplasia";"314662";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion";"314655";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Duplication of the pituitary gland";"314621";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency";"314637";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ATP13A2-related juvenile neuronal ceroid lipofuscinosis";"314632";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature due to partial GHR deficiency";"314802";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature due to GHSR deficiency";"314811";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary renal tubular acidosis";"314822";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant proximal renal tubular acidosis";"314889";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial isolated pituitary adenoma";"314777";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Silent pituitary adenoma";"314786";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Null pituitary adenoma";"314790";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SHOX-related short stature";"314795";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Functioning pituitary adenoma";"314753";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mixed functioning pituitary adenoma";"314759";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Somatomammotropinoma";"314769";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal arteriopathy syndrome due to fibulin-4 deficiency";"314718";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical dentin dysplasia due to SMOC2 deficiency";"314721";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disease with adrenal Cushing syndrome as a major feature";"314749";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Medich giant platelet syndrome";"370127";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ataxia-telangiectasia variant";"370109";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder with dystonia and other neurologic or systemic manifestation";"370106";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary dystonia, DYT17 type";"370103";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculocutaneous albinism type 6";"370097";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculocutaneous albinism type 5";"370091";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Small cell carcinoma of the ovary";"370396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peripheral primitive neuroectodermal tumor";"370348";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extraskeletal Ewing sarcoma";"370334";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "White platelet syndrome";"370131";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Didymosis aplasticosebacea";"370046";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of pyridoxine metabolism";"79192";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Moebius syndrome";"570";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute infantile liver failure-multisystemic involvement syndrome";"370088";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proximal 16p11.2 microduplication syndrome";"370079";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fetal anticonvulsant syndrome";"370068";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SCALP syndrome";"370052";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "NEVADA syndrome";"370059";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital disorder of glycosylation with neurological involvement";"371047";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital disorder of glycosylation with epilepsy as a major feature";"371071";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital muscular dystrophy with hyperlaxity";"371007";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GM3 synthase deficiency";"370933";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Buerger disease";"36258";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Muscle-eye-brain disease with bilateral multicystic leucodystrophy";"370997";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary qualitative or quantitative defects of alpha-dystroglycan";"371040";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of alpha-dystroglycan";"371024";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital disorder of glycosylation with cardiac malformation as a major feature";"371183";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital disorder of glycosylation with dilated cardiomyopathy";"371176";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Erythrokeratoderma variabilis progressiva";"308166";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gliosarcoma";"251576";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "High-grade astrocytoma";"251561";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gliomatosis cerebri";"251582";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Giant cell glioblastoma";"251579";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Low-grade astrocytoma";"251592";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anaplastic astrocytoma";"251589";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Protoplasmic astrocytoma";"251598";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diffuse astrocytoma";"251595";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "2q32q33 microdeletion syndrome";"251019";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SATB2-associated syndrome due to a chromosomal rearrangement";"251028";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3q29 microduplication syndrome";"251038";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "1q41q42 microdeletion syndrome";"250999";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paternal uniparental disomy of chromosome 1";"251004";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maternal uniparental disomy of chromosome 1";"251009";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "2q31.1 microdeletion syndrome";"251014";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "7q31 microdeletion syndrome";"251061";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "8p11.2 deletion syndrome";"251066";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "8p23.1 microdeletion syndrome";"251071";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "8p23.1 duplication syndrome";"251076";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 5 syndrome";"251043";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "6p22 microdeletion syndrome";"251046";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "6q25 microdeletion syndrome";"251056";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Serpinopathy with toxic serpin polymerization";"250808";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Serpinopathy";"250805";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Logopenic progressive aphasia";"250831";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Serpinopathy with loss of serpin function";"250811";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive Stickler syndrome";"250984";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "AICA-ribosiduria";"250977";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "1q21.1 microduplication syndrome";"250994";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "1q21.1 microdeletion syndrome";"250989";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated aniridia";"250923";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare neoplastic disease";"250908";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polymicrogyria with optic nerve hypoplasia";"250972";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant optic atrophy and peripheral neuropathy";"250932";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome";"251380";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CK syndrome";"251383";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sickle cell-hemoglobin D disease syndrome";"251370";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sickle cell-hemoglobin E disease syndrome";"251375";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sickle cell-beta-thalassemia disease syndrome";"251359";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sickle cell-hemoglobin C disease syndrome";"251365";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sickle cell disease associated with another hemoglobin anomaly";"251355";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maternal disease-related embryofetopathy";"251535";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare tumor of neuroepithelial tissue";"251558";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperzincemia and hypercalprotectinemia";"251523";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Toxic or drug-related embryofetopathy";"251529";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY partial gonadal dysgenesis";"251510";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal arthrogryposis type 10";"251515";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Localized junctional epidermolysis bullosa";"251393";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pigmented paravenous retinochoroidal atrophy";"251295";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Parietal foramina with clavicular hypoplasia";"251290";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trisomy 5p";"1742";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign concentric annular macular dystrophy";"251287";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic ataxia type 1";"251282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome";"251279";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital disorder of glycosylation-related bone disorder";"371195";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital disorder of glycosylation with intestinal involvement";"371188";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital disorder of glycosylation with hepatic involvement";"371157";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "STT3A-CDG";"370921";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "STT3B-CDG";"370924";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SSR4-CDG";"370927";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "XYLT1-CDG";"370930";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital muscular dystrophy due to dystroglycanopathy";"370953";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital muscular dystrophy with cerebellar involvement";"370959";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital muscular dystrophy with intellectual disability";"370968";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital muscular dystrophy without intellectual disability";"370980";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autism spectrum disorder-epilepsy-arthrogryposis syndrome";"370943";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary short bowel syndrome";"365563";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary hyperaldosteronism-seizures-neurological abnormalities syndrome";"369929";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pontocerebellar hypoplasia type 9";"369920";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CADDS";"369942";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome";"369939";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methylmalonic acidemia with homocystinuria, type cblJ";"369955";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-seizures-macrocephaly-obesity syndrome";"369950";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcornea-myopic chorioretinal atrophy-telecanthus syndrome";"369970";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methylmalonic acidemia with homocystinuria, type cblX";"369962";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome";"369979";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe dermatitis-multiple allergies-metabolic wasting syndrome";"369992";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Focal palmoplantar keratoderma with joint keratoses";"370002";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Desmoplastic infantile astrocytoma/ganglioglioma";"251940";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysembryoplastic neuroepithelial tumor";"251946";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mixed neuronal-glial tumor";"251934";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gangliocytoma";"251937";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Papillary glioneuronal tumor";"251962";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rosette-forming glioneuronal tumor";"251975";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ganglioglioma";"251949";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anaplastic ganglioglioma";"251957";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Yolk sac tumor of central nervous system";"252006";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Choriocarcinoma of the central nervous system";"252015";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ganglioneuroma";"251992";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary germ cell tumor of central nervous system";"251995";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic medulloblastoma";"251867";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Desmoplastic/nodular medulloblastoma";"251863";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ganglioneuroblastoma";"251877";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple mitochondrial DNA deletion syndrome";"254807";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ataxia neuropathy spectrum";"254818";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial DNA depletion syndrome, encephalomyopathic form";"254803";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial substrate carrier disorder";"254830";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial oxidative phosphorylation disorder with no known mechanism";"254822";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial membrane transport disorder";"254827";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign schwannoma";"252164";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant peripheral nerve sheath tumor with perineurial differentiation";"252128";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign peripheral nerve sheath tumor";"252131";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tumor of cranial and spinal nerves";"252057";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary melanoma of the central nervous system";"252050";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemangioblastoma";"252054";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diffuse leptomeningeal melanocytosis";"252031";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Meningeal melanocytoma";"252046";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tumor of meninges";"252025";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary melanocytic tumor of central nervous system";"252028";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Teratoma of the central nervous system";"252018";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare lichen planus";"254367";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic hyperferritinemia without iron overload";"254704";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation";"254534";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Temple syndrome due to paternal 14q32.2 hypomethylation";"254531";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complete hydatidiform mole";"254688";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gestational trophoblastic disease";"254685";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diffuse palmoplantar keratoderma with painful fissures";"369999";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-facial dysmorphism-hand anomalies syndrome";"370010";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome";"369837";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TRAPPC11-related limb-girdle muscular dystrophy R18";"369840";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-hyperkinetic movement-truncal ataxia syndrome";"369847";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital neutropenia-myelofibrosis-nephromegaly syndrome";"369852";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome";"369861";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C";"369867";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Obesity due to SIM1 deficiency";"369873";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "2p21 microdeletion syndrome without cystinuria";"369881";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Homozygous 2p21 microdeletion syndrome";"369886";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Developmental delay-facial dysmorphism syndrome due to MED13L deficiency";"369891";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies";"369897";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 17";"369913";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile epileptic-dyskinetic encephalopathy";"364063";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe early-childhood-onset retinal dystrophy";"364055";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hydroa vacciniforme-like lymphoma";"364039";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ALK-positive large B-cell lymphoma";"364043";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methylcobalamin deficiency type cblDv1";"308380";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive sideroblastic anemia";"260305";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome 1";"261766";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome 4";"261781";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome 5";"261786";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome 2";"261771";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome 3";"261776";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome 8";"261801";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome 9";"261806";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome 6";"261791";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome 7";"261796";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 12";"261821";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome 16";"261826";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome 10";"261811";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome 11";"261816";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome 18";"261836";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome 17";"261831";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome 20";"261846";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome 19";"261841";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of chromosome 2";"261866";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of chromosome 1";"261857";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of chromosome 4";"261884";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "14q11.2 microdeletion syndrome";"261120";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Monosomy 9p";"261112";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal 7q11.23 microduplication syndrome";"261102";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "16p13.11 microdeletion syndrome";"261236";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "16p13.11 microduplication syndrome";"261243";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal 16p11.2 microdeletion syndrome";"261222";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "14q11.2 microduplication syndrome";"261229";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "16p11.2p12.2 microduplication syndrome";"261204";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "16p11.2p12.2 microdeletion syndrome";"261211";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "15q14 microdeletion syndrome";"261190";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proximal 16p11.2 microdeletion syndrome";"261197";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "20p12.3 microdeletion syndrome";"261295";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paternal 20q13.2q13.3 microdeletion syndrome";"261304";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "17q23.1q23.2 microdeletion syndrome";"261279";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trisomy 17p";"261290";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "17q12 microdeletion syndrome";"261265";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "17q12 microduplication syndrome";"261272";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "16q24.3 microdeletion syndrome";"261250";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal 17p13.3 microdeletion syndrome";"261257";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trisomy 1q";"261344";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal 22q11.2 microduplication syndrome";"261337";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Xp21 deletion syndrome";"261476";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "2p15p16.1 microdeletion syndrome";"261349";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trisomy 20p";"261318";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "20q13.33 microdeletion syndrome";"261311";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability due to GRIA3 mutations";"364028";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood";"364033";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-immune hydrops fetalis";"363999";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immune hydrops fetalis";"364013";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial benign flecked retina";"363989";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spina bifida and other spinal dysraphisms";"823";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ichthyosis-short stature-brachydactyly-microspherophakia syndrome";"363992";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Giant cell tumor of bone";"363976";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 4B3";"363981";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cerebral atrophy";"363969";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia";"363972";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Koolen-De Vries syndrome due to a point mutation";"363965";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "17q21.31 microdeletion syndrome";"363958";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Balint syndrome";"363746";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome";"363741";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia";"363727";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alexander disease type II";"363722";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alexander disease type I";"363717";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 37";"363710";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniofaciofrontodigital syndrome";"363705";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion";"363700";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome";"363694";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome";"363686";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "2p13.2 microdeletion syndrome";"363680";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Childhood-onset autosomal recessive myopathy with external ophthalmoplegia";"363677";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare bone disease related to a common gene or pathway defect";"364803";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aggrecan-related bone disorder";"364817";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TRPV4-related bone disorder";"364820";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrofacial dysostosis";"364574";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysostosis with limb and face anomalies as a major feature";"364571";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial multiple meningioma";"263662";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peeling skin syndrome type A";"263548";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peeling skin syndrome type B";"263553";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acral peeling skin syndrome";"263534";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Generalized peeling skin syndrome";"263543";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive myoclonic epilepsy type 3";"263516";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute necrotizing encephalopathy of childhood";"263524";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "COG4-CDG";"263501";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "COG1-CDG";"263508";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepiphyseal dysplasia, Maroteaux type";"263482";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fuchs heterochromic iridocyclitis";"263479";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DPM3-CDG";"263494";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of chromosome 8";"262638";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of chromosome 11";"262653";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of chromosome 10";"262648";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication/triplication of the short arm of chromosome 12";"262658";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of chromosome 17";"262677";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of chromosome 16";"262672";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 22";"262182";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of chromosome 1";"262191";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of chromosome 2";"262196";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of chromosome 3";"262201";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of chromosome 4";"262206";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication/triplication of chromosome 5";"262211";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of chromosome 6";"262628";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of chromosome 7";"262633";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 14";"262110";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 15";"262119";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 16";"262128";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 17";"262137";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 18";"262146";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 19";"262155";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 20";"262164";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 21";"262173";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-brachydactyly-Pierre Robin syndrome";"364577";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysostosis";"364559";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Otopalatodigital syndrome spectrum disorder";"364541";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysostosis with limb anomaly as a major feature";"364568";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary bone dysplasia";"364526";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome";"363523";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial DNA depletion syndrome, hepatocerebrorenal form";"363534";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-strabismus syndrome";"363528";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome";"363444";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy";"363454";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant childhood-onset proximal spinal muscular atrophy";"363447";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paratesticular adenocarcinoma";"363478";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tumor of testis and paratestis";"363472";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sex cord-stromal tumor of testis";"363489";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Testicular teratoma";"363483";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to IL21R deficiency";"357329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome";"357332";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary essential cutis verticis gyrata";"357220";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary non-essential cutis verticis gyrata";"357225";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe combined immunodeficiency due to CARD11 deficiency";"357237";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of pyrimidine metabolism";"79193";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malformation of the neurenteric canal, spinal cord and column";"268843";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary tethered cord syndrome";"268861";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Parietal encephalocele";"268826";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Basal encephalocele";"268829";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated megalencephaly";"268920";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arnold-Chiari malformation type I";"268882";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurenteric cyst";"268865";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated amyelia";"268868";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinal dysraphism with a posterior meningocele";"268744";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Occipital encephalocele";"268823";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cranial meningocele";"268820";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cephalocele";"268817";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic maple syrup urine disease";"268145";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thiamine-responsive maple syrup urine disease";"268184";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intermittent maple syrup urine disease";"268173";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis";"264973";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease";"264968";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease";"264949";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic interstitial lung disease";"264992";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Exposure-related interstitial lung disease";"264984";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Drug or radiation exposure-related interstitial lung disease";"264978";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Interstitial lung disease specific to infancy";"264694";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary interstitial lung disease specific to childhood associated with a systemic disease";"264699";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated focal cortical dysplasia type Ib";"268980";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated focal cortical dysplasia type Ic";"268987";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated focal cortical dysplasia type Ia";"268973";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated focal cortical dysplasia type IIb";"269008";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Encephaloclastic disorder";"269190";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated focal cortical dysplasia type II";"268994";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated focal cortical dysplasia type IIa";"269001";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bilateral polymicrogyria";"268940";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unilateral polymicrogyria";"268943";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Midline cerebral malformation";"268926";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated arhinencephaly";"268936";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated focal cortical dysplasia type I";"268961";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unilateral focal polymicrogyria";"268947";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebral cortical dysplasia";"268950";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated cerebellar vermis agenesis";"269203";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glioependymal/ependymal cyst";"269197";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Central nervous system cystic malformation";"269194";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic non-syndromic renal or urinary tract malformation";"357506";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oligodendroglioma";"251627";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic nephrotic syndrome";"357502";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "D,L-2-hydroxyglutaric aciduria";"356978";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3q26q27 microdeletion syndrome";"356947";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SLC35A2-CDG";"356961";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemolytic uremic syndrome with DGKE deficiency";"357008";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "19p13.13 microdeletion syndrome";"357001";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ANK3-related intellectual disability-sleep disturbance syndrome";"356996";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amyotrophic lateral sclerosis type 4";"357043";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-hereditary retinoblastoma";"357034";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary retinoblastoma";"357027";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cutis laxa type 2, classic type";"357074";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cutis laxa type 2B";"357064";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cutis laxa type 2A";"357058";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome";"357158";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oral submucous fibrosis";"357154";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Venous thoracic outlet syndrome";"357131";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arterial thoracic outlet syndrome";"357107";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign epithelial tumor of salivary glands";"276148";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant epithelial tumor of salivary glands";"276145";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple endocrine neoplasia";"276161";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple endocrine neoplasia type 4";"276152";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic frontotemporal degeneration with dementia";"276061";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic neurodegenerative disease with dementia";"276058";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare tumor of salivary glands";"276142";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bile acid CoA ligase deficiency and defective amidation";"276066";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Frontotemporal dementia with motor neuron disease";"275872";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Behavioral variant of frontotemporal dementia";"275864";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemolytic disease of the newborn with Kell alloimmunization";"275944";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "L1 syndrome";"275543";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pontine tegmental cap dysplasia";"269229";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Global cerebellar malformation";"269224";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated bilateral hemispheric cerebellar hypoplasia";"269221";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated unilateral hemispheric cerebellar hypoplasia";"269218";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome with microcephaly as a major feature";"269528";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome with a cerebellar malformation as a major feature";"269523";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital non-communicating hydrocephalus";"269510";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital communicating hydrocephalus";"269505";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated Dandy-Walker malformation without hydrocephalus";"269215";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated Dandy-Walker malformation with hydrocephalus";"269212";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated partial cerebellar vermis agenesis";"269209";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated total cerebellar vermis agenesis";"269206";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency";"276580";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant hyperinsulinism due to SUR1 deficiency";"276575";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency";"276598";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diazoxide-resistant hyperinsulinism";"276585";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-insulinoma pancreatogenous hypoglycemia syndrome";"276608";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency";"276603";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 36";"276198";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 35";"276193";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 32";"276183";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic recurrent stupor";"276174";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Machado-Joseph disease type 1";"276238";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic male infertility due to sperm motility disorder";"276234";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucopolysaccharidosis type 6, slowly progressing";"276223";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucopolysaccharidosis type 6, rapidly progressing";"276212";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Machado-Joseph disease type 3";"276244";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Machado-Joseph disease type 2";"276241";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemihyperplasia-multiple lipomatosis syndrome";"276280";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial multinodular goiter";"276399";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "10q22.3q23.3 microdeletion syndrome";"276413";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperbiliverdinemia";"276405";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "10q22.3q23.3 microduplication syndrome";"276422";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ogden syndrome";"276432";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome";"352654";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome";"352662";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary benign intraepithelial dyskeratosis";"352657";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cerebellar ataxia with late-onset spasticity";"352641";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Phalangeal microgeodic syndrome";"352636";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brain dopamine-serotonin vesicular transport disease";"352649";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive myoclonic epilepsy with dystonia";"352596";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "16q24.1 microdeletion syndrome";"352629";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bainbridge-Ropers syndrome";"352577";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation";"352587";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial infantile myoclonic epilepsy";"352582";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of melanin metabolism";"352728";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculocutaneous albinism type 1";"352731";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Minimal pigment oculocutaneous albinism type 1";"352734";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Temperature-sensitive oculocutaneous albinism type 1";"352737";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Facial dysmorphism-immunodeficiency-livedo-short stature syndrome";"352712";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive retinal dystrophy due to retinol transport defect";"352718";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Attenuated Chédiak-Higashi syndrome";"352723";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies";"352687";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic panuveitis";"280921";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pelizaeus-Merzbacher disease, transitional form";"280224";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pelizaeus-Merzbacher disease in female carriers";"280229";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sporadic pheochromocytoma/secreting paraganglioma";"276621";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Symptomatic form of Coffin-Lowry syndrome in female carriers";"276630";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spasmus nutans";"279882";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute endophthalmitis";"279888";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic endophthalmitis";"279891";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Toxic maculopathy due to antimalarial drugs";"279894";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary oculocerebral lymphoma";"279897";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary intraocular lymphoma";"279904";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary organ-specific lymphoma";"279911";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intermediate uveitis";"279914";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infectious posterior uveitis";"279919";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tropical spastic paraparesis";"289326";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency";"289307";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined malonic and methylmalonic acidemia";"289504";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital cataract microcornea with corneal opacity";"289499";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "4H leukodystrophy";"289494";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microtriplication 11q24.1";"289522";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "12q15q21.1 microdeletion syndrome";"289513";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital adermatoglyphia";"289465";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary Sjögren syndrome";"289390";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignancy diagnosed during pregnancy";"289385";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-alacrima-achalasia syndrome";"289483";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PASH syndrome";"289478";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypocalcemic rickets";"289103";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorders of vitamin D metabolism";"289098";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive hypophosphatemic rickets";"289176";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypocalcemic vitamin D-dependent rickets";"289157";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal ichthyosis syndrome with other associated signs";"281244";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal ichthyosis syndrome with fatal disease course";"281241";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniosynostosis-dental anomalies";"284149";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Larsen-like syndrome, B3GAT3 type";"284139";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Xp22.13p22.2 duplication syndrome";"284180";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion";"284169";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "8q21.11 microdeletion syndrome";"284160";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial retinal arterial macroaneurysm";"284247";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2O";"284232";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TEMPI syndrome";"284227";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cerebellar ataxia-psychomotor delay syndrome";"284271";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IgG4-related disease";"284264";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia";"284324";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency";"284282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult-onset autosomal recessive cerebellar ataxia";"284289";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DICER1 tumor-predisposition syndrome";"284343";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile-onset autosomal recessive nonprogressive cerebellar ataxia";"284332";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypermethioninemia due to glycine N-methyltransferase deficiency";"289891";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3-methylglutaconic aciduria";"289902";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Organic aciduria";"289899";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of proline metabolism";"289866";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transient hyperammonemia of the newborn";"289877";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of ornithine metabolism";"289869";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoinflammatory syndrome with immune deficiency";"290839";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Systemic disease with skin involvement";"290836";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vitamin B12-unresponsive methylmalonic acidemia type mut0";"289916";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methylmalonic acidemia without homocystinuria";"293355";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Grayson-Wilbrandt corneal dystrophy";"293375";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epithelial recurrent erosion dystrophy";"293381";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pre-Descemet corneal dystrophy";"293462";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital hereditary endothelial dystrophy type II";"293603";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked endothelial corneal dystrophy";"293621";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial clubfoot due to PITX1 point mutation";"293150";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial clubfoot due to 5q31 microdeletion";"293144";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile-onset ascending hereditary spastic paralysis";"293168";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Skin fragility-woolly hair-palmoplantar keratoderma syndrome";"293165";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Heme oxygenase-1 deficiency";"562509";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant migrating focal seizures of infancy";"293181";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute generalized exanthematous pustulosis";"293173";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pleomorphic rhabdomyosarcoma";"293199";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epithelioid sarcoma";"293202";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria";"293284";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Celiac artery compression syndrome";"293208";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kufor-Rakeb syndrome";"306674";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemiparkinsonism-hemiatrophy syndrome";"306669";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive infantile hypercalcemia";"300547";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary cutaneous anaplastic large cell lymphoma";"300865";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "T-cell/histiocyte rich large B cell lymphoma";"300857";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hairy cell leukemia variant";"300878";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Splenic diffuse red pulp small B-cell lymphoma";"300869";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ALK-positive anaplastic large cell lymphoma";"300895";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diffuse large B-cell lymphoma with chronic inflammation";"300888";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile amyotrophic lateral sclerosis";"300605";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laminopathy with striated muscle involvement";"300755";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation";"300751";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laminopathy with lipodystrophy";"300763";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B";"308393";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C";"308400";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of beta and omega amino acid metabolism";"308407";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency";"308410";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency";"308425";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disease with diffuse palmoplantar keratoderma as a major feature";"307711";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated diffuse palmoplantar keratoderma";"307148";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Curly hair-acral keratoderma-caries syndrome";"307766";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature";"307804";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant diffuse mutilating palmoplantar keratoderma";"307773";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated focal palmoplantar keratoderma";"307846";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Focal palmoplantar keratoderma";"307837";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome";"307936";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disease with focal palmoplantar keratoderma as a major feature";"307871";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Marginal papular palmoplantar keratoderma";"307995";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pancreatic colipase deficiency";"309108";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "HSD10 disease, infantile type";"391428";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of magnesium transport";"309848";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of zinc metabolism and transport";"309845";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of iron metabolism and transport";"309842";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of catecholamine synthesis";"309830";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of vitamin and non-protein cofactor absorption and transport";"309827";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Defect in conserved oligomeric Golgi complex";"309568";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Defect in V-ATPase";"309778";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation";"309515";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of multiple glycosylation";"309526";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rhizomelic chondrodysplasia punctata type 3";"309803";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metachromatic leukodystrophy, adult form";"309271";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycoproteinosis";"309279";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-mannosidosis, infantile form";"309282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-mannosidosis, adult form";"309288";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical Gaucher disease due to saposin C deficiency";"309252";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metachromatic leukodystrophy, late infantile form";"309256";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metachromatic leukodystrophy, juvenile form";"309263";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Free sialic acid storage disease, infantile form";"309324";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intermediate severe Salla disease";"309331";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Salla disease";"309334";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lysosomal glycogen storage disease";"309337";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sialidosis";"309294";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucopolysaccharidosis type 4A";"309297";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucopolysaccharidosis type 4B";"309310";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of sialic acid metabolism";"309319";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kyasanur forest disease";"319254";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Omsk hemorrhagic fever";"319266";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Clear cell renal carcinoma";"319276";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mal de Meleda";"87503";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brazilian hemorrhagic fever";"319239";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chapare hemorrhagic fever";"319244";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hantavirus pulmonary syndrome";"319247";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rift valley fever";"319251";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal medullary carcinoma";"319319";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucinous tubular and spindle cell renal carcinoma";"319322";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tubulocystic renal cell carcinoma";"319325";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multilocular cystic renal neoplasm of low malignant potential";"319287";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Papillary renal cell carcinoma";"319298";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chromophobe renal cell carcinoma";"319303";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "HSD10 disease, neonatal type";"391457";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MAGIC syndrome";"324972";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome";"319678";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephalic primordial dwarfism, Dauber type";"319675";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alazami syndrome";"319671";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary lymphoma of the conjunctiva";"319667";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Frontorhiny";"391474";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome with 46,XX difference of sex development";"325109";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XX difference of sex development induced by exogenous maternal-derived androgen";"325099";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XX difference of sex development induced by endogenous maternal-derived androgen";"325093";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ciliopathy";"363250";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic syndromic Pierre Robin syndrome";"363294";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic progeroid syndrome";"363245";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome";"363203";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital anomaly of the great veins";"363189";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short ulna-dysmorphism-hypotonia-intellectual disability syndrome";"357175";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital retinal arteriovenous communication";"353334";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyruvate carboxylase deficiency, benign type";"353320";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital myasthenic syndromes with glycosylation defect";"353327";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyruvate carboxylase deficiency, infantile type";"353308";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyruvate carboxylase deficiency, severe neonatal type";"353314";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Roifman syndrome";"353298";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion";"353281";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency";"353284";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis";"352301";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spectrin-associated autosomal recessive cerebellar ataxia";"352403";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome";"352333";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MEGDEL syndrome";"352328";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive external ophthalmoplegia-myopathy-emaciation syndrome";"352447";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement";"352312";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement";"352309";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement";"352306";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome";"352530";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency";"352563";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oncogenic osteomalacia";"352540";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ISPD-related limb-girdle muscular dystrophy R20";"352479";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial DNA maintenance syndrome";"352456";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DNA2-related mitochondrial DNA deletion syndrome";"352470";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autism spectrum disorder due to AUTS2 deficiency";"352490";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary bone dysplasia with micromelia";"364536";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments";"364531";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bipartite talus";"364198";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Temtamy preaxial brachydactyly syndrome";"363417";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fetal akinesia-cerebral and retinal hemorrhage syndrome";"363409";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypomyelination with brain stem and spinal cord involvement and leg spasticity";"363412";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome";"363429";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency";"363432";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple mitochondrial dysfunctions syndrome type 3";"363424";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic intestinal polyposis";"363314";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic intractable diarrhea of infancy";"363300";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic intestinal disease due to fat malabsorption";"363306";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "High myopia-sensorineural deafness syndrome";"363396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe neurodegenerative syndrome with lipodystrophy";"363400";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "LMNA-related cardiocutaneous progeria syndrome";"363618";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GMPPB-related limb-girdle muscular dystrophy R19";"363623";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome";"363649";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked parkinsonism-spasticity syndrome";"363654";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "20q11.2 microduplication syndrome";"363659";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acroosteolysis-keloid-like lesions-premature aging syndrome";"363665";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leukoencephalopathy with mild cerebellar ataxia and white matter edema";"363540";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute encephalopathy with biphasic seizures and late reduced diffusion";"363549";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "New-onset refractory status epilepticus";"363558";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute encephalopathy with inflammation-mediated status epilepticus";"363567";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extragonadal germ cell tumor";"363579";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gonadal germ cell tumor";"363582";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CTCF-related neurodevelopmental disorder";"363611";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Germ cell tumor of testis";"363504";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-seminomatous germ cell tumor of testis";"363494";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial syringomyelia";"370034";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Angora hair nevus";"370039";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome";"370022";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloid leukemia with t(8";"370026";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepimetaphyseal dysplasia, Isidor-Toutain type";"370015";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fetal carbamazepine syndrome";"370076";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Generalized isolated dystonia";"376724";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic syndromic esophageal malformation";"371445";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic hyperaldosteronism";"371861";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital disorder of glycosylation with developmental anomaly";"371235";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital disorder of glycosylation with nephropathy as a major feature";"371207";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital disorder of glycosylation with skin involvement";"371200";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital disorder of glycosylation with deafness as a major feature";"371212";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic neurovascular malformation";"371436";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic periodic paralysis";"371433";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sphingolipidosis with epilepsy";"371442";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multicentric osteolysis-nodulosis-arthropathy spectrum";"371428";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypotonia-speech impairment-severe cognitive delay syndrome";"371364";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fatal post-viral neurodegenerative disorder";"391343";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome";"391348";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SURF1-related Charcot-Marie-Tooth disease type 4";"391351";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Holzgreve syndrome";"2167";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Growth retardation-mild developmental delay-chronic hepatitis syndrome";"391366";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-severe speech delay-mild dysmorphism syndrome";"391372";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome";"391376";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of asparagine metabolism";"391381";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial episodic pain syndrome";"391384";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial episodic pain syndrome with predominantly upper body involvement";"391389";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial episodic pain syndrome with predominantly lower limb involvement";"391392";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary sensory and autonomic neuropathy type 7";"391397";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome";"391408";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical juvenile parkinsonism";"391411";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "HSD10 disease";"391417";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome";"391307";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression";"391316";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Susceptibility to viral and mycobacterial infections due to STAT1 deficiency";"391311";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked calvarial hyperostosis";"391327";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "East Texas bleeding disorder";"391320";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked osteoporosis with fractures";"391330";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome";"391487";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Feingold syndrome type 2";"391646";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Feingold syndrome type 1";"391641";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Homozygous familial hypercholesterolemia";"391665";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glomus tumor";"391651";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal anoctaminopathy";"399096";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Avascular necrosis";"399164";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteonecrosis";"399158";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant epithelial tumor of ovary";"398934";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucinous adenocarcinoma of ovary";"398961";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant non-epithelial tumor of ovary";"398940";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Clear cell adenocarcinoma of the ovary";"398971";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal lupus erythematosus";"398124";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal scleroderma";"398127";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Persistent idiopathic facial pain";"398147";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculoauriculofrontonasal syndrome";"398156";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Focal facial dermal dysplasia";"398166";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Focal facial dermal dysplasia type II";"398173";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Focal facial dermal dysplasia type IV";"398189";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MAGEL2-related Prader-Willi-like syndrome";"398069";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Prader-Willi-like syndrome";"398073";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SIM1-related Prader-Willi-like syndrome";"398079";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary cryohydrocytosis with normal stomatin";"398088";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary neonatal autoimmune disease";"398091";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal antiphospholipid syndrome";"398097";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal autoimmune hemolytic anemia";"398109";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal dermatomyositis";"398117";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "AXIN2-related attenuated familial adenomatous polyposis";"401911";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Huntington disease-like syndrome due to C9ORF72 expansions";"401901";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial median cleft of the upper and lower lips";"401942";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "14q24.1q24.3 microdeletion syndrome";"401935";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "9q31.1q31.3 microdeletion syndrome";"401923";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome";"401959";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Episodic ataxia with slurred speech";"401953";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency";"401948";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Moyamoya disease with early-onset achalasia";"401945";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "1p31p32 microdeletion syndrome";"401986";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type";"401979";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MEND syndrome";"401973";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons";"401964";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering";"402003";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lichen myxedematosus";"402007";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cold-induced sweating syndrome-hyperthermia spectrum";"401993";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Karyomegalic interstitial nephritis";"401996";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloid leukemia with t(9";"402017";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive myoclonic epilepsy type 8";"424027";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloid leukemia with inv(3)(q21q26.2) or t(3";"402020";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloid leukemia with t(6";"402014";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary eosinophilic gastrointestinal disease";"402029";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Eosinophilic colitis";"402035";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive myoclonic epilepsy type 5";"402082";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare female infertility due to a congenital hypogonadotropic hypogonadism";"399839";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder";"399831";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder with obstructive azoospermia";"399824";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Male infertility due to sperm motility disorder";"399813";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare female infertility due to an anomaly of ovarian function";"399853";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare female infertility due to an adrenal disorder";"399849";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism";"399846";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Male infertility with teratozoospermia due to single gene mutation";"399808";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Male infertility with azoospermia or oligozoospermia due to single gene mutation";"399805";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Male infertility with spermatogenesis disorder due to single gene mutation";"399786";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Male infertility with spermatogenesis disorder";"399775";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PRKAR1B-related neurodegenerative dementia with intermediate filaments";"412066";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cerebellar ataxia due to STUB1 deficiency";"412057";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidermolysis bullosa simplex due to BP230 deficiency";"412181";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome";"412069";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidermolysis bullosa simplex due to exophilin 5 deficiency";"412189";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dystonia-aphonia syndrome";"412217";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary failure of tooth eruption";"412206";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of the stomach";"418959";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carcinoma of esophagus, salivary gland type";"418945";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Undifferentiated carcinoma of esophagus";"418951";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary pulmonary alveolar proteinosis";"420259";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malan overgrowth syndrome";"420179";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic facial cleft";"414726";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bilirubin encephalopathy";"415286";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic odontal or periodontal disorder";"420755";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea";"420789";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cono-spondylar dysplasia";"420794";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive severe congenital neutropenia due to CSF3R deficiency";"420702";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 20";"420728";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 21";"420733";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "RIDDLE syndrome";"420741";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult-onset cervical dystonia, DYT23 type";"420492";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cranio-cervical dystonia with laryngeal and upper-limb involvement";"420485";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Visual snow syndrome";"420556";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Semicircular canal dehiscence syndrome";"420402";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to acid maltase deficiency, late-onset";"420429";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transient myeloproliferative syndrome";"420611";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome";"420584";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency";"420699";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Woolly hair-palmoplantar keratoderma syndrome";"420686";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Temple-Baraitser syndrome";"420561";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe combined immunodeficiency due to CTPS1 deficiency";"420573";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bleeding disorder due to CalDAG-GEFI deficiency";"420566";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucolipidosis type III gamma";"423470";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Solid pseudopapillary carcinoma of pancreas";"424065";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intraductal papillary mucinous carcinoma of pancreas";"424058";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Undifferentiated carcinoma with osteoclast-like giant cells of pancreas";"424080";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Serous cystadenocarcinoma of pancreas";"424073";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital myopathy with myasthenic-like onset";"424107";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Colobomatous microphthalmia-rhizomelic dysplasia syndrome";"424099";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of Torsin-1A-interacting protein 1";"424925";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TOR1AIP1-related limb-girdle muscular dystrophy";"424261";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenocarcinoma of the anal canal";"424016";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carcinoma of the anal canal";"424013";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pituicytoma";"251623";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of the anal canal";"424019";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of pancreas";"424039";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare epithelial tumor of pancreas";"424033";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucinous cystadenocarcinoma of the pancreas";"424053";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acinar cell carcinoma of pancreas";"424046";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of the small intestine";"423968";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuroendocrine tumor of the small intestine";"423975";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epithelial tumor of the appendix";"423982";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare epithelial tumor of colon";"423991";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of the colon";"423994";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Patent urachus";"431341";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "L-ferritin deficiency";"440731";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency";"440427";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial colorectal cancer Type X";"440437";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorders of pentose/polyol metabolism";"440701";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ribose-5-P isomerase deficiency";"440706";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic hereditary optic neuropathy";"441434";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset posterior subcapsular cataract";"441447";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset lamellar cataract";"441452";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated agenesis of gallbladder";"440987";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sporadic porphyria cutanea tarda";"443057";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial porphyria cutanea tarda";"443062";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Central serous chorioretinopathy";"443079";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Baroreflex failure";"443084";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemicrania continua";"443070";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 2S";"443073";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-specific early-onset epileptic encephalopathy";"442835";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "AH amyloidosis";"442582";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked erythropoietic protoporphyria";"443197";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic stiff person syndrome";"443192";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spontaneous intracranial hypotension";"443180";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Postpartum psychosis";"443173";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "HIV-associated cancer";"443291";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Postural orthostatic tachycardia syndrome due to NET deficiency";"443236";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paratyphoid fever";"443227";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperostosis cranialis interna";"443098";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperinsulinemic hypoglycaemia";"443095";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect";"443090";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY difference of sex development due to testicular 17,20-desmolase deficiency";"443087";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "NUT midline carcinoma";"443167";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "NDE1-related microhydranencephaly";"443162";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphoplasmacytic lymphoma without IgM production";"443159";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypothalamic adipsic hypernatraemia syndrome";"443101";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Focal stiff limb syndrome";"443804";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PGM3-CDG";"443811";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary nonpolyposis colon cancer";"443909";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DNAJB2-related Charcot-Marie-Tooth disease type 2";"443950";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Predisposition to invasive fungal disease due to CARD9 deficiency";"457088";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome";"457193";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polyglucosan body myopathy type 2";"456369";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudohypoparathyroidism with Albright hereditary osteodystrophy";"457059";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudohypoparathyroidism without Albright hereditary osteodystrophy";"457062";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital nemaline myopathy";"457074";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant mitochondrial myopathy with exercise intolerance";"457050";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 73";"444099";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary amyloidosis";"444116";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome";"444138";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome";"444463";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial chylomicronemia syndrome";"444490";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic phalangeal acro-osteolysis";"444316";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 24";"444458";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Limb-girdle muscular dystrophy due to POMK deficiency";"445110";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome";"445062";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3-methylglutaconic aciduria type 7";"445038";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to LRBA deficiency";"445018";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Caudal regression-sirenomelia spectrum";"444941";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudohypoaldosteronism";"444916";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "NIK deficiency";"447731";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DOCK2 deficiency";"447737";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Susceptibility to localized juvenile periodontitis";"447740";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary vasculitis";"445197";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic dropped head syndrome";"447881";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polymerase proofreading-related adenomatous polyposis";"447877";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tremor-ataxia-central hypomyelination syndrome";"447896";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome";"447893";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebral visual impairment";"447788";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Biological anomaly without phenotypic characterization";"447874";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lipoyl transferase 2 deficiency";"447795";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary sclerosing cholangitis";"447774";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sclerosing cholangitis";"447771";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial pyruvate carrier deficiency";"447784";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Keratocystic odontogenic tumor";"447777";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 9B";"447757";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acid sphingomyelinase deficiency";"618899";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 9A";"447753";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IgG4-related sclerosing cholangitis";"447764";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 9B";"447760";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 43";"497764";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic capillary malformation";"459526";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency due to a complement cascade component deficiency";"459345";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency due to a complement regulatory deficiency";"459348";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic vascular tumor";"459543";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic venous malformation";"459548";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic complex vascular malformation with associated anomalies";"459537";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal multiple congenital anomalies/dysmorphic syndrome";"459787";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare combined vascular malformation";"458837";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Common cystic lymphatic malformation";"458833";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare vascular malformation of major vessels";"458844";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ataxia-oculomotor apraxia type 4";"459033";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepiphyseal dysplasia, Stanescu type";"459051";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic sensorineural deafness due to combined oxidative phosphorylation defect";"457223";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome";"457212";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome";"457205";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Scorpion envenomation";"466677";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Euthyroid Graves orbitopathy";"466682";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome";"466688";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Supratip dysplasia";"466695";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disease with malignant hyperthermia";"466658";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cyanide poisoning";"466670";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Exercise-induced malignant hyperthermia";"466650";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant thrombocytopenia with platelet secretion defect";"466806";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome";"466794";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrocephaly-intellectual disability-left ventricular non compaction syndrome";"466791";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect";"466784";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive Charcot-Marie-Tooth disease type 2X";"466775";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2Z";"466768";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial patent arterial duct";"466729";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 77";"466722";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Martinique crinkled retinal pigment epitheliopathy";"466718";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TMEM199-CDG";"466703";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fetal encasement syndrome";"465824";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic otorhinolaryngologic disease";"466084";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic hemoglobinopathy";"466066";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Class I glucose-6-phosphate dehydrogenase deficiency";"466026";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Phyllodes tumor of the prostate";"498228";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Childhood-onset basal ganglia degeneration syndrome";"497906";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blount disease";"2768";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome";"480864";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated neonatal sclerosing cholangitis";"480556";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aneurysmal bone cyst";"480553";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-severe combined immunodeficiency";"480549";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement";"480541";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary thrombocytopenia with early-onset myelofibrosis";"480851";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Facial diplegia with paresthesias";"480701";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "POGLUT1-related limb-girdle muscular dystrophy R21";"480682";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive familial intrahepatic cholestasis type 5";"480476";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MYO5B-related progressive familial intrahepatic cholestasis";"480491";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive familial intrahepatic cholestasis type 4";"480483";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic peliosis hepatis";"480524";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Axonal hereditary motor and sensory neuropathy";"476109";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to TFRC deficiency";"476113";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intermediate Charcot-Marie-Tooth disease";"476123";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome";"476126";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital generalized hypercontractile muscle stiffness syndrome";"476406";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PMP2-related Charcot-Marie-Tooth disease type 1";"476394";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypercontractile muscle stiffness syndrome";"476403";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "BVES-related limb-girdle muscular dystrophy";"476084";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Erythrokeratodermia-cardiomyopathy syndrome";"476096";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary pediatric Behçet-like disease";"476102";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome";"476093";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic lethal multiple congenital anomalies/dysmorphic syndrome";"471383";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare congenital anomaly of ventricular septum";"474347";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome";"496756";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ocular anomalies-axonal neuropathy-developmental delay syndrome";"496790";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MIRAGE syndrome";"494433";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome";"494439";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extracranial carotid artery aneurysm";"494424";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic pleuroparenchymal fibroelastosis";"494428";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vulvar basal cell carcinoma";"494451";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vulvar carcinoma";"494418";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "C12ORF65-related combined oxidative phosphorylation defect";"497623";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidermolytic nevus";"497737";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MME-related autosomal dominant Charcot Marie Tooth disease type 2";"497757";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diffuse intrinsic pontine glioma";"497188";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic hyperkinetic movement disorder";"496916";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-inflammatory vasculopathy";"496924";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital bile acid synthesis defect";"485631";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital hepatic fibrosis";"485426";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Prenatal-onset spinal muscular atrophy with congenital bone fractures";"486811";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome";"486815";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "EMILIN-1-related connective tissue disease";"485418";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect";"485421";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic premature ovarian failure";"485382";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "16p12.1p12.3 triplication syndrome";"485405";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vibratory urticaria";"493342";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TELO2-related intellectual disability-neurodevelopmental disorder";"488642";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DDX41-related hematologic malignancy predisposition syndrome";"488647";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal myopathy, Tateyama type";"488650";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transketolase deficiency";"488618";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome";"488627";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TBCK-related intellectual disability syndrome";"488632";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset epilepsy-intellectual disability-brain anomalies syndrome";"488635";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteofibrous dysplasia";"488265";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute macular neuroretinopathy";"488239";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Split-foot malformation-mesoaxial polydactyly syndrome";"488232";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2W";"488333";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "14q32 duplication syndrome";"488280";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital amyoplasia";"488586";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SIX2-related frontonasal dysplasia";"488437";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Camptodactyly syndrome, Guadalajara type 3";"488434";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome";"488613";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pediatric collagenous gastritis";"487809";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to Moesin deficiency";"504530";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder";"500180";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome";"500188";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome";"500150";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteoradionecrosis of the mandible";"521127";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Radiation-induced disorder";"521132";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom";"500159";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Witteveen-Kolk syndrome";"500163";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SIN3A-related intellectual disability syndrome due to a point mutation";"500166";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome";"500135";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome";"500144";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hao-Fountain syndrome due to 16p13.2 microdeletion";"500055";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tall stature-intellectual disability-renal anomalies syndrome";"500095";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile-onset periodic fever-panniculitis-dermatosis syndrome";"500062";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of the oropharynx";"500478";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of salivary glands";"500481";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteosclerotic metaphyseal dysplasia";"500548";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cochleovestibular malformation";"502305";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic postaxial polydactyly";"498467";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic preaxial polydactyly";"498464";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Terminal transverse limb defect";"498461";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Longitudinal limb defect";"498457";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysostosis with brachydactyly with extraskeletal manifestations";"498454";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysostosis with brachydactyly without extraskeletal manifestations";"498451";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Overgrowth or tall stature syndrome with skeletal involvement";"498448";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic inflammatory or rheumatoid-like osteoarthropathy";"498445";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aquagenic palmoplantar keratoderma";"498359";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic biliary atresia";"498350";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Biliary atresia and associated disorders";"498345";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Menstrual cycle-dependent periodic fever";"498251";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic relapsing inflammatory optic neuropathy";"499085";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital syphilis";"499009";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune/inflammatory optic neuropathy";"499047";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short rib-polydactyly syndrome type 5";"498497";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sugarman brachydactyly";"498602";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome";"498693";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic complex polydactyly";"498470";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyaline fibromatosis syndrome";"498474";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complete hemimelia";"498491";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pilomatrix carcinoma";"499182";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic optic perineuritis";"499107";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated optic neuritis";"499096";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Recurrent idiopathic neuroretinitis";"499103";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated iridoschisis";"519392";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated blepharochalasis";"519390";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated microspherophakia";"519396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital cystic eye";"519384";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive anterior segment dysgenesis";"519388";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital entropion";"519386";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mooren ulcer";"519408";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thygeson superficial punctate keratitis";"519406";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Terrien marginal degeneration";"519410";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peripapillary staphyloma";"519400";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated foveal hypoplasia";"519398";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Optic disc pit";"519404";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated megalopapilla";"519402";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital optic disc excavation";"519333";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ATP13A2-related parkinsonism";"514980";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Accessory pancreas";"674";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome";"521432";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PLAA-associated neurodevelopmental disorder";"521426";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2DD";"521414";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Xq25 microduplication syndrome";"521258";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proximal myopathy with focal depletion of mitochondria";"521305";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome";"521308";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome";"521390";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dystonia-parkinsonism-hypermanganesemia syndrome";"521406";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect";"521411";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive external ophthalmoplegia";"520820";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Radiation-induced plexopathy";"521123";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mirizzi syndrome";"521219";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic primary orthostatic disorder";"521232";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary orthostatic disorder";"521236";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated inherited retinal disorder";"520817";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder of the visual organs";"520814";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fungal keratitis";"519930";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic lymphoproliferative disorder of natural killer cells";"512017";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Large granular lymphocyte leukemia";"512034";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive epidermolytic ichthyosis";"512103";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital cerebellar ataxia due to RNU12 mutation";"512260";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome";"514352";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 78";"513436";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome";"513456";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired factor XI deficiency";"599507";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "9q21.13 microdeletion syndrome";"531151";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lamb-Shaffer syndrome";"530983";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mixed phenotype acute leukemia";"530995";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial GPIHBP1 deficiency";"535458";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "RASopathy";"536391";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondylodysplastic Ehlers-Danlos syndrome";"536471";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome";"536467";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic congenital malformation of the eye with glaucoma as a major feature";"525677";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pediatric-onset Graves disease";"525731";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic ophthalmic disorder with cortical involvement";"522508";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature";"522506";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic disorder of the visual organs";"522504";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome";"522077";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic autoimmune enteropathy";"522043";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary autoimmune enteropathy";"522037";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "LAMA5-related multisystemic syndrome";"521450";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome";"521445";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital vertebral-cardiac-renal anomalies syndrome";"521438";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome";"528105";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome";"528091";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-specific syndromic intellectual disability";"528084";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "NKX6-2-related autosomal recessive hypomyelinating leukodystrophy";"527497";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe myopia-generalized joint laxity-short stature syndrome";"527450";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diaphragmatic hernia-short bowel-asplenia syndrome";"527468";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Encephalopathy due to mitochondrial and peroxisomal fission defect";"527276";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "17q24.2 microdeletion syndrome";"529962";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary erythromelalgia";"529864";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined hepatocellular carcinoma and cholangiocarcinoma";"529852";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Letrozole toxicity";"529831";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic bilirubin encephalopathy";"529808";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute bilirubin encephalopathy";"529799";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inflammatory bowel disease-recurrent sinopulmonary infections syndrome";"529980";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dermoid or epidermoid cyst of the central nervous system";"530033";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immune dysregulation with inflammatory bowel disease";"529974";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome";"529977";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome";"529965";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Male infertility due to acephalic spermatozoa";"529970";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Monoclonal mast cell activation syndrome";"529468";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Duane retraction syndrome with congenital deafness";"529574";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome";"529665";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary angioedema with C1Inh deficiency";"528623";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary angioedema with normal C1Inh";"528647";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired angioedema with C1Inh deficiency";"528663";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired factor XIII deficiency";"599513";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive extra-oral halitosis";"562538";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital hypoglossia";"563954";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital aglossia";"563951";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteochondrosis of the metatarsal bone";"564003";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteochondrosis of the tarsal bone";"563991";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary hypomagnesemia-refractory seizures-intellectual disability syndrome";"564178";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myopathic Ehlers-Danlos syndrome";"536516";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kyphoscoliotic Ehlers-Danlos syndrome";"536545";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classical-like Ehlers-Danlos syndrome type 2";"536532";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PLG-related hereditary angioedema with normal C1Inh";"537072";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy";"538096";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital axonal neuropathy with encephalopathy";"538101";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurological channelopathy of the central nervous system due to a genetic chloride channel defect";"538238";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic pyoderma gangrenosum";"538863";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial multiple discoid fibromas";"538756";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome";"538574";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked lymphoproliferative disease due to XIAP deficiency";"538934";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked lymphoproliferative disease due to SH2D1A deficiency";"538931";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anomalous aortic origin of the right coronary artery";"541454";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anomalous aortic origin of the left coronary artery";"541443";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GNB5-related intellectual disability-cardiac arrhythmia syndrome";"542306";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to CARMIL2 deficiency";"542301";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leukoencephalopathy with calcifications and cysts";"542310";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CAR T cell therapy-associated cytokine release syndrome";"542323";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Auditory neuropathy-optic atrophy syndrome";"542585";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Necrobiosis lipoidica";"542592";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Livedoid vasculopathy";"542643";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Quadricuspid aortic valve";"542568";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome";"543470";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated hyperchlorhidrosis";"542657";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anomaly of the coronary ostia";"542822";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemolytic uremic syndrome";"544458";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha";"566231";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta";"566243";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute mast cell leukemia";"566393";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic mast cell leukemia";"566396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aprosencephaly/atelencephaly spectrum";"566847";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Liver adenomatosis";"566841";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aprosencephaly";"566857";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atelencephaly";"566852";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Left sided atrial isomerism";"566862";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mueller-Weiss syndrome";"566943";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital primary lymphedema of Gordon";"569821";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CELSR1-related late-onset primary lymphedema";"569816";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "EPHB4-related lymphatic-related hydrops fetalis";"568065";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis";"568062";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder with multisystemic involvement and primary lymphedema";"568047";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary lymphedema with systemic or visceral involvement";"568044";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome";"568056";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GJC2-related late-onset primary lymphedema";"568051";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Angiomatoid fibrous histiocytoma";"569164";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple mitochondrial dysfunctions syndrome type 5";"569274";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital infiltrating lipomatosis of the face";"583097";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "QRICH1-related intellectual disability-chondrodysplasia syndrome";"580940";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Punctate inner choroidopathy";"580951";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal brain and heart developmental defects";"580933";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cramp-fasciculation syndrome";"581271";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intraductal tubulopapillary neoplasm of pancreas";"580572";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial atrioventricular septal defect with ventricular hypoplasia";"576232";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial atrioventricular septal defect without ventricular hypoplasia";"576235";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic unicoronal craniosynostosis";"620102";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complete atrioventricular septal defect without ventricular hypoplasia";"576227";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Middle East respiratory syndrome";"576074";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Split cord malformation type II";"573253";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency";"574957";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Predisposition to severe viral infection due to IRF7 deficiency";"574918";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Split cord malformation";"573278";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly type B1";"572385";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blepharophimosis-ptosis-epicanthus inversus syndrome type 2";"572361";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia";"572428";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "RFVT2-related riboflavin transporter deficiency";"572543";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "RFVT3-related riboflavin transporter deficiency";"572550";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-short stature-limb abnormalities syndrome";"572773";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "WARS2-related combined oxidative phosphorylation defect";"572798";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DONSON-related microcephaly-short stature-limb abnormalities spectrum";"572761";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "STXBP1-related encephalopathy";"599373";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypomyelination of early myelinating structures";"599376";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary angioedema with normal C1Inh not related to F12 or PLG variant";"599418";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired hemophilia A";"599480";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired hemophilia B";"599485";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired factor V deficiency";"599490";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired factor VII deficiency";"599495";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired factor X deficiency";"599501";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome";"599082";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Localized dystrophic epidermolysis bullosa";"595356";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adrenal hypoplasia congenita";"595337";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome of reduced sensitivity to thyroid hormone";"596426";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis";"596008";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to RELA haploinsufficiency";"596759";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Portosinusoidal vascular disease";"596937";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Incomplete septal cirrhosis";"596941";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IgG4-related systemic disease";"596448";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "VEXAS syndrome";"596753";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies";"592850";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuromyelitis optica spectrum disorder with anti-MOG antibodies";"592856";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies";"592869";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated optic neuritis with anti-MOG antibodies";"592888";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute disseminated encephalomyelitis with anti-MOG antibodies";"592894";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute disseminated encephalomyelitis without anti-MOG antibodies";"592900";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Menke-Hennekam syndrome";"592574";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GNAO1-related developmental delay-seizures-movement disorder spectrum";"592564";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome";"592570";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dystonia 28";"589618";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mixed phenotype acute leukemia with t(9";"589534";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 45";"589527";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder";"589547";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myeloid/lymphoid neoplasm associated with JAK2 rearrangement";"589542";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome";"589442";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondylometaphyseal dysplasia-corneal dystrophy syndrome";"589435";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 46";"589522";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PUM1-associated developmental disability-ataxia-seizure syndrome";"589515";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloid leukemia with t(9";"585867";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic unifrontosphenoidal craniosynostosis";"620139";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality";"585877";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "B-lymphoblastic leukemia/lymphoma with t(9";"585909";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "B-lymphoblastic leukemia/lymphoma with hyperdiploidy";"585936";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "B-lymphoblastic leukemia/lymphoma with hypodiploidy";"585942";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "B-lymphoblastic leukemia/lymphoma with t(v";"585918";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "B-lymphoblastic leukemia/lymphoma with t(12";"585929";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated mesenteric vein thrombosis";"583861";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic neurovisceral acid sphingomyelinase deficiency";"618891";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Conjunctival malignant melanoma";"617910";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia";"617916";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "F12-associated cold autoinflammatory syndrome";"617919";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemophilia B Leyden";"617930";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immune deficiency due to impaired neutrophil phagocytosis and migration";"619941";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic anorectal malformation with rectal stenosis";"601023";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic anorectal malformation with rectovesical fistula";"600984";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic anorectal malformation with vestibular fistula";"600993";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic cloacal malformation";"600998";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic anorectal malformation without fistula";"601002";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic anorectal malformation with rectourethral fistula";"600961";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic anorectal malformation with perineal fistula";"600952";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic anorectal malformation with rectourethral fistula, prostatic type";"600975";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic anorectal malformation with rectourethral fistula, bulbar type";"600966";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Factor V Atlanta bleeding disorder";"600194";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Factor V short isoforms-related bleeding disorder";"599519";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Factor V Amsterdam bleeding disorder";"599579";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic paraparesis-cataracts-speech delay syndrome";"615938";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Granuloma faciale";"615943";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster";"615986";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic intervillositis of unknown etiology";"615970";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation";"615983";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome";"615954";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate";"615964";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome";"617449";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic eosinophilic pustular folliculitis";"617408";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Painful legs and moving toes syndrome";"617440";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder related to monochorionic twin pregnancy";"617307";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amniotic fluid embolism";"617304";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder due to inadequate sharing of the placenta";"617313";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder due to unbalanced inter-twin blood transfusion";"617310";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Twin anemia-polycythemia sequence";"617294";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder without a determined diagnosis after full investigation";"616874";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Selective intrauterine growth restriction";"617301";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Twin-reversed arterial perfusion sequence";"617297";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic unisutural craniosynostosis";"620096";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune encephalitis";"622014";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fibrosis-neurodegeneration-cerebral angiomatosis syndrome";"621758";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation";"620371";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "EGF-related primary hypomagnesemia with intellectual disability";"620368";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome";"620363";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bartter syndrome type 1";"620217";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bartter syndrome type 2";"620220";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic bicoronal and sagittal craniosynostosis";"620205";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic pansynostosis";"620212";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic metopic and sagittal craniosynostosis";"620192";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic bicoronal and metopic craniosynostosis";"620198";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic bilambdoid craniosynostosis";"620178";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic unicoronal and sagittal craniosynostosis";"620186";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic multisutural craniosynostosis";"620152";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic non-specific multisutural craniosynostosis";"620158";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic unisquamosal craniosynostosis";"620146";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic unilambdoid craniosynostosis";"620113";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-specific autoimmune cerebellar ataxia without characteristic antibodies";"624268";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-specific autoimmune cerebellar ataxia with characteristic antibodies";"624259";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-specific autoimmune brainstem encephalitis with characteristic antibodies";"624199";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paraneoplastic isolated brainstem encephalitis";"624190";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Postinfectious cerebellitis";"624244";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-specific autoimmune brainstem encephalitis without characteristic antibodies";"624216";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Body integrity dysphoria";"623789";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute flaccid myelitis";"623801";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-specific autoimmune supratentorial encephalitis with characteristic antibodies";"624166";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-specific autoimmune supratentorial encephalitis without characteristic antibodies";"624178";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune limbic encephalitis";"623615";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysplastic cortical hyperostosis, Al-Gazali type";"646136";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysplastic cortical hyperostosis";"646139";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multifocal tuberculosis";"645854";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated left bronchial isomerism";"649029";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Central retinal artery occlusion";"648684";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic catatonia";"648919";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ferroportin Disease";"648562";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare scleritis";"648559";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Digenic hemochromatosis";"648581";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-HFE-related hemochromatosis";"648569";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infectious scleritis";"648665";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immune-mediated scleritis";"648681";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic scleritis";"648675";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Keratoendotheliitis fugax hereditaria";"647815";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cardiac-urogenital syndrome";"647811";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to FCHO1 deficiency";"647804";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Conjoined twins";"647916";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SLC40A1-related hemochromatosis";"647834";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic pregnancy-associated osteoporosis";"647823";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated primary pigmented nodular adrenocortical disease";"647772";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare adrenocortical nodular disease with Cushing syndrome as a major feature";"647768";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adrenal Cushing syndrome";"647758";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome";"647681";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MYT1L-related developmental delay-intellectual disability-obesity syndrome";"647799";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated persistent urogenital sinus";"647794";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome";"647788";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated micronodular adrenocortical disease";"647782";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare central precocious puberty in female";"650070";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare central precocious puberty";"650063";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal compartment syndrome";"641829";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Perrault syndrome type 2";"642976";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive ataxia due to PEX2 deficiency";"642965";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive ataxia due to PEX16 deficiency";"642954";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Perrault syndrome type 1";"642945";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cushing syndrome due to cortisol-producing adrenocortical adenoma";"642788";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation";"642763";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PUM1-related cerebellar ataxia";"642747";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fragile X-associated primary ovarian insufficiency";"642691";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CHD8 overgrowth syndrome";"642675";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hyperaldosteronism type IV";"642671";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type";"642099";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type";"642085";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary pulmonary vein stenosis";"642071";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple epiphyseal dysplasia, Al-Gazali type";"166024";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alexander disease";"58";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple epiphyseal dysplasia, with miniepiphyses";"166032";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-mannosidosis";"61";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia";"166029";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metaphyseal chondrodysplasia, Kaitila type";"166038";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aspartylglucosaminuria";"93";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly-short stature-retinitis pigmentosa syndrome";"166035";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple sulfatase deficiency";"585";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beta-mannosidosis";"118";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Canavan disease";"141";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pontocerebellar hypoplasia type 4";"166063";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Von Willebrand disease type 1";"166078";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pontocerebellar hypoplasia type 6";"166073";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cystinosis";"213";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Von Willebrand disease type 2A";"166084";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Farber disease";"333";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Von Willebrand disease type 2";"166081";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fucosidosis";"349";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Von Willebrand disease type 2M";"166090";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to acid maltase deficiency";"365";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Von Willebrand disease type 2B";"166087";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to glycogen debranching enzyme deficiency";"366";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Von Willebrand disease type 2N";"166093";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to muscle glycogen phosphorylase deficiency";"368";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Von Willebrand disease type 3";"166096";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to glycogen branching enzyme deficiency";"367";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant otospondylomegaepiphyseal dysplasia";"166100";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to muscle phosphofructokinase deficiency";"371";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "FASTKD2-related infantile mitochondrial encephalomyopathy";"166105";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to liver glycogen phosphorylase deficiency";"369";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paroxysmal nocturnal hemoglobinuria";"447";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability, Birk-Barel type";"166108";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bazex syndrome";"166113";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare cutaneous lupus erythematosus";"535";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated osteopoikilosis";"166119";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Krabbe disease";"487";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dentinogenesis imperfecta type 2";"166260";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dentinogenesis imperfecta type 3";"166265";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucopolysaccharidosis type 6";"583";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Odontochondrodysplasia";"166272";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucolipidosis type II";"576";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia";"166277";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sialidosis type 1";"812";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial sick sinus syndrome";"166282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucolipidosis type IV";"578";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Porokeratotic eccrine ostial and dermal duct nevus";"166286";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucolipidosis type III";"577";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dirofilariasis";"166291";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign non-familial infantile seizures";"166295";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign infantile focal epilepsy with midline spikes and waves during sleep";"166308";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign infantile seizures associated with mild gastroenteritis";"166305";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Poliomyelitis";"2912";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign partial epilepsy with secondarily generalized seizures in infancy";"166302";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign partial epilepsy of infancy with complex partial seizures";"166299";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sandhoff disease";"796";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Photosensitive epilepsy";"166409";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Scleroderma";"801";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign partial infantile seizures";"166311";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Recessive X-linked ichthyosis";"461";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Orgasm-induced seizures";"166421";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Eating reflex epilepsy";"166418";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Audiogenic seizures";"166415";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucopolysaccharidosis type 7";"584";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hot water reflex epilepsy";"166412";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Reading seizures";"166433";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Micturation-induced seizures";"166430";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Turner syndrome";"881";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Startle epilepsy";"166427";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thinking seizures";"166424";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Friedreich ataxia";"95";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurocutaneous syndrome with epilepsy";"166466";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beta-thalassemia";"848";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chromosomal anomaly with epilepsy as a major feature";"166469";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-thalassemia";"846";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cystic fibrosis";"586";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epilepsy syndrome";"166463";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Duchenne and Becker muscular dystrophy";"262";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebral malformation with epilepsy";"166478";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metabolic diseases with epilepsy";"166481";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Monogenic disease with epilepsy";"166472";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes";"166475";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Emery-Dreifuss muscular dystrophy";"261";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infectious disease with epilepsy";"166490";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inflammatory and autoimmune disease with epilepsy";"166484";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebral diseases of vascular origin with epilepsy";"166487";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Facioscapulohumeral dystrophy";"269";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kearns-Sayre syndrome";"480";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myofibrillar myopathy";"593";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MERRF";"551";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Central core disease";"597";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nemaline myopathy";"607";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease";"163746";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paramyotonia congenita of Von Eulenburg";"684";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrodermatitis continua of Hallopeau";"163931";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Steinert myotonic dystrophy";"273";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pustulosis palmaris et plantaris";"163927";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Najm type";"163937";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atopic keratoconjunctivitis";"163934";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thomsen and Becker disease";"614";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Van Esch type";"163976";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pfeiffer syndrome";"710";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-craniofacioskeletal syndrome";"163979";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Nascimento type";"163956";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked cerebral-cerebellar-coloboma syndrome";"163961";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Middle and/or inner ear anomaly";"164004";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloid leukemia and myelodysplastic syndromes related to radiation";"164726";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperekplexia-epilepsy syndrome";"163985";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare odontal or periodontal disorder";"164001";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic pancreatic disease";"165661";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic gastro-esophageal disease";"165658";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic intestinal disease";"165655";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic gastroenterological disease";"165652";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile absence epilepsy";"1941";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare acquired aplastic anemia";"164823";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive polycystic kidney disease";"731";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial advanced sleep-phase syndrome";"164736";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial mesial temporal lobe epilepsy with febrile seizures";"165805";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare abdominal surgical disease";"165711";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic urogenital tract malformation";"165707";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic urogenital tract malformation";"165704";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wound myiasis";"165955";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cavitary myiasis";"165958";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diazoxide-resistant diffuse hyperinsulinism";"165988";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinoblastoma";"790";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Exercise-induced hyperinsulinism";"165991";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple endocrine neoplasia type 1";"652";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diazoxide-sensitive diffuse hyperinsulinism";"165985";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fragile X syndrome";"908";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rheumatic fever";"3099";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Prader-Willi syndrome";"739";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wilson disease";"905";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic cerebral malformation due to abnormal neuronal migration";"163209";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked retinoschisis";"792";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Subacute cutaneous lupus erythematosus";"163525";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Stargardt disease";"827";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare bacterial infectious disease";"163582";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic cutaneous lupus erythematosus";"163531";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wiskott-Aldrich syndrome";"906";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Williams syndrome";"904";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital nasal pyriform aperture stenosis";"162516";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Achondroplasia";"15";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ataxia with vitamin E deficiency";"96";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital auditory ossicle malformation";"162526";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dentatorubral pallidoluysian atrophy";"101";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rubinstein-Taybi syndrome";"783";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome";"163649";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-acquired isolated growth hormone deficiency";"631";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "T-B+ severe combined immunodeficiency due to gamma chain deficiency";"276";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome";"163654";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ornithine transcarbamylase deficiency";"664";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepiphyseal dysplasia, MacDermot type";"163668";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepiphyseal dysplasia, Reardon type";"163662";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepiphyseal dysplasia tarda, Kohn type";"163665";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare mycosis";"163591";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hb Bart's hydrops fetalis";"163596";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare viral disease";"163585";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypochondroplasia";"429";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare parasitic disease";"163588";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypophosphatemic rickets";"437";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder related with pregnancy, childbirth and puerperium";"163637";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leber hereditary optic neuropathy";"104";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bile acid synthesis defect with cholestasis and malabsorption";"163631";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hydrocephalus with stenosis of the aqueduct of Sylvius";"2182";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maffucci syndrome";"163634";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign familial mesial temporal lobe epilepsy";"163717";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cryptogenic late-onset epileptic spasms";"163708";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurofibromatosis type 1";"636";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pearson syndrome";"699";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary neuropathy with liability to pressure palsies";"640";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperkalemic periodic paralysis";"682";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diastrophic dysplasia";"628";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malaria";"673";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypokalemic periodic paralysis";"681";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peutz-Jeghers syndrome";"2869";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "WAGR syndrome";"893";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Zellweger syndrome";"912";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Albers-Schönberg osteopetrosis";"53";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Abetalipoproteinemia";"14";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alagille syndrome";"52";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cat-eye syndrome";"195";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Crouzon syndrome";"207";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Crigler-Najjar syndrome";"205";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cowden syndrome";"201";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coffin-Lowry syndrome";"192";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked lymphoproliferative disease";"2442";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mild hemophilia A";"169808";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital vitamin K-dependent coagulation factors deficiency";"169826";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe hemophilia A";"169802";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Moderate hemophilia A";"169805";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies";"2443";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Meckel syndrome";"564";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laminin subunit alpha 2-related congenital muscular dystrophy";"258";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Schistosomiasis";"1247";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bartter syndrome";"112";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells";"169443";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial chromosome Y deletion";"1646";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary CD59 deficiency";"169464";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant cerebellar ataxia";"99";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beckwith-Wiedemann syndrome";"116";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Apert syndrome";"87";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial paroxysmal ataxia";"97";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Recurrent Neisseria infections due to factor D deficiency";"169467";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mild hemophilia B";"169799";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Moderate hemophilia B";"169796";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe hemophilia B";"169793";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rectal duplication";"171220";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ocular albinism with late-onset sensorineural deafness";"1000";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ermine phenotype";"999";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe congenital nemaline myopathy";"171430";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intermediate nemaline myopathy";"171433";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Typical nemaline myopathy";"171436";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Childhood-onset nemaline myopathy";"171439";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculocutaneous albinism";"55";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult-onset nemaline myopathy";"171442";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Muscle filaminopathy";"171445";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked spastic paraplegia type 34";"171607";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bruck syndrome";"2771";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 37";"171612";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 38";"171617";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial DNA-related cardiomyopathy and hearing loss";"1349";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 32";"171622";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 35";"171629";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Treacher-Collins syndrome";"861";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft lip with or without cleft palate";"1991";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 18q";"1716";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trisomy 18p";"1715";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 15q";"1707";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trisomy 13";"3378";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal deletion 9p";"1642";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal monosomy 7q36";"1636";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement";"168953";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Monosomy 18q";"1600";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement";"168950";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement";"168947";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Monosomy 18p";"1598";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thanatophoric dysplasia";"2655";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 10 syndrome";"1438";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome";"2773";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome";"2772";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated complex I deficiency";"2609";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immune dysregulation disease with immunodeficiency";"169361";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency";"169154";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency due to a late component of complement deficiency";"169150";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta";"169160";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurodegeneration with brain iron accumulation";"385";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "T-B+ severe combined immunodeficiency due to CD45 deficiency";"169157";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transient hypogammaglobulinemia of infancy";"169139";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive epilepsy-intellectual disability syndrome, Finnish type";"1947";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency due to a classical component pathway complement deficiency";"169147";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Recurrent infection due to specific granule deficiency";"169142";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Galactosemia";"352";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DNA repair defect other than combined T-cell and B-cell immunodeficiencies";"169346";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency syndrome with autoimmunity";"169355";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive centronuclear myopathy";"169186";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tetrasomy 18p";"3307";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial scaphocephaly syndrome";"169163";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant centronuclear myopathy";"169189";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acromegaly";"963";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blue rubber bleb nevus";"1059";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alopecia antibody deficiency";"1006";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal hemolytic anemia-genital anomalies syndrome";"1046";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nail-patella syndrome";"2614";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome";"3085";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 18 syndrome";"1442";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleidocranial dysplasia";"1452";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant coarctation of aorta";"1455";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome";"1369";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cholestasis-lymphedema syndrome";"1414";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome";"1154";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal arthrogryposis type 1";"1146";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital neuronal ceroid lipofuscinosis";"168486";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Late infantile neuronal ceroid lipofuscinosis";"168491";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondylometaphyseal dysplasia, Golden type";"168544";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sheldon-Hall syndrome";"1147";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disease with dentinogenesis imperfecta";"167762";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary dentin defect";"167759";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unclassified acute myeloid leukemia";"167714";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Scleromyxedema";"167635";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple carboxylase deficiency";"148";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carbamoyl-phosphate synthetase 1 deficiency";"147";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hemorrhagic disorder due to an acquired coagulation factor defect";"166775";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dihydropteridine reductase deficiency";"226";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated Dandy-Walker malformation";"217";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cutis marmorata telangiectatica congenita";"1556";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome";"1538";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Corpus callosum agenesis-neuronopathy syndrome";"1496";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal severe primary hyperparathyroidism";"417";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypogonadism-mitral valve prolapse-intellectual disability syndrome";"2233";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypoplastic left heart syndrome";"2248";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hennekam-Beemer syndrome";"2135";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital diaphragmatic hernia";"2140";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital hydrocephalus";"2185";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hawkinsinuria";"2118";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare cardiomyopathy";"167848";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Galactosialidosis";"351";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital fiber-type disproportion myopathy";"2020";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Freeman-Sheldon syndrome";"2053";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fetal parvovirus syndrome";"295";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria";"1933";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dopa-responsive dystonia";"255";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fetal alcohol syndrome";"1915";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated ectopia lentis";"1885";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multicystic dysplastic kidney";"1851";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare vulvovaginal tumor";"180312";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metatropic dysplasia";"2635";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare non-malformative uterine adnexal disease";"180303";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic diaphragmatic or thoracic malformation";"180779";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic diaphragmatic or thoracic malformation";"180776";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Horizontal gaze palsy with progressive scoliosis";"2744";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peroxisomal acyl-CoA oxidase deficiency";"2971";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial spontaneous pneumothorax";"2903";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuralgic amyotrophy";"2901";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare gastroesophageal tumor";"180821";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare tumor of pancreas";"180824";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism";"181387";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature";"181390";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Other rare diabetes mellitus";"181381";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hypothalamic or pituitary disease";"181384";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare diabetes mellitus type 1";"181371";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare diabetes mellitus type 2";"181376";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Difference of sex development-intellectual disability syndrome";"2983";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XX difference of sex development";"2982";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare insulin-resistance syndrome";"181368";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare non-malformative breast disease";"180202";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare non-malformative gynecologic or obstetric disease";"180199";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anomaly of puberty or/and menstrual cycle";"180208";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare non-malformative uterovaginal or vulvovaginal disease";"180205";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Foveal hypoplasia-presenile cataract syndrome";"2253";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital breast hypoplasia/aplasia";"180188";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic breast hypoplasia/aplasia";"180193";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple intestinal atresia";"2300";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Embryonal carcinoma";"180226";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polyembryoma";"180229";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare uterine adnexal tumor";"180220";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Angioosteohypertrophic syndrome";"2346";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vaginal carcinoma";"180247";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare breast tumor";"180250";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital macroglossia";"2430";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare benign breast tumor";"180253";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pulmonary lymphangiectasia";"2414";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital laryngomalacia";"2373";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mixed germ cell tumor";"180234";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign tumor of fallopian tubes";"180237";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laurence-Moon syndrome";"2377";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital laryngeal web";"2374";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant tumor of fallopian tubes";"180242";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MASA syndrome";"2466";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paget disease of the nipple";"180275";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare malignant breast tumor";"180257";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Phyllodes tumor of the breast";"180261";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Giant adenofibroma of the breast";"180267";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pulmonary airway malformation";"2444";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Obesity due to leptin receptor gene deficiency";"179494";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Obesity due to congenital leptin resistance";"179490";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unilateral aplasia of the Müllerian ducts";"180071";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial bilateral aplasia of the Müllerian ducts";"180068";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic uterovaginal malformation";"180065";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Uterovaginal malformation";"180062";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bicervical bicornuate uterus and blind hemivagina";"180106";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Didelphys uterus";"180086";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudounicornuate uterus";"180079";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "True unicornuate uterus";"180074";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Septate uterus";"180122";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unicervical bicornuate uterus";"180114";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bicervical bicornuate uterus with patent cervix and vagina";"180111";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bicornuate uterus";"180134";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Uterine hypoplasia";"180139";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complete septate uterus";"180126";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial septate uterus";"180129";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic uterovaginal malformation";"180148";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare vaginal malformation";"180151";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Absence of uterine body";"180142";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Uterine cervical aplasia and agenesis";"180145";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transverse vaginal septum";"180160";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare breast malformation";"180163";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Septate vagina";"180154";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sirenomelia";"3169";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sjögren-Larsson syndrome";"816";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile spasms-broad thumbs syndrome";"3173";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Stormorken-Sjaastad-Langslet syndrome";"3204";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sturge-Weber syndrome";"3205";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tracheal agenesis";"3346";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital toxoplasmosis";"858";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "VACTERL/VATER association";"887";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebrotendinous xanthomatosis";"909";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Weaver syndrome";"3447";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-N-acetylgalactosaminidase deficiency";"3137";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma";"178528";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma";"178522";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Localized pagetoid reticulosis";"178517";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Folliculotropic mycosis fungoides";"178512";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Perry syndrome";"178509";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brain calcification, Rajab type";"178506";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myopic macular degeneration";"178493";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult intestinal botulism";"178487";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteogenesis imperfecta";"666";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital adrenal hyperplasia";"418";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to glucose-6-phosphatase deficiency";"364";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gaucher disease";"355";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hirschsprung disease";"388";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidermolysis bullosa simplex";"304";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GM1 gangliosidosis";"354";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute lung injury";"178320";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Undifferentiated embryonal sarcoma of the liver";"178315";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Åland Islands eye disease";"178333";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Purine nucleoside phosphorylase deficiency";"760";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculopharyngeal muscular dystrophy";"270";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary ciliary dyskinesia";"244";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Waardenburg syndrome";"3440";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked adrenoleukodystrophy";"43";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microscopic polyangiitis";"727";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Granulomatosis with polyangiitis";"900";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trichinellosis";"863";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beta-ketothiolase deficiency";"134";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cutis laxa-Marfanoid syndrome";"171719";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "White sponge nevus";"171723";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary xanthinuria";"3467";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Limbal stem cell deficiency";"171673";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maple syrup urine disease";"511";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lichen planopilaris";"525";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lissencephaly due to TUBA1A mutation";"171680";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glutathione synthetase deficiency";"32";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic bilateral vestibulopathy";"171684";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metabolic myopathy due to lactate transporter defect";"171690";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methylmalonic acidemia with homocystinuria";"26";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 42";"171863";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal pseudohypoaldosteronism type 1";"171871";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepimetaphyseal dysplasia, aggrecan type";"171866";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cap myopathy";"171881";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Generalized pseudohypoaldosteronism type 1";"171876";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare form of salmonellosis";"795";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myopathy with hexagonally cross-linked tubular arrays";"171889";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sarcoidosis";"797";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cylindrical spirals myopathy";"171886";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile idiopathic arthritis";"92";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "6q16 microdeletion syndrome";"171829";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blindness-scoliosis-arachnodactyly syndrome";"171844";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome";"171839";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Larynx atresia";"1202";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Esophageal atresia";"1199";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MEDNIK syndrome";"171851";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome";"171848";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brucellosis";"1304";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paroxysmal dystonia";"200037";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency with factor I anomaly";"200418";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant polycystic kidney disease";"730";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency with factor H anomaly";"200421";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant severe congenital neutropenia";"486";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tricuspid atresia";"1209";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated encephalocele";"199647";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic ataxia of Charlevoix-Saguenay";"98";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thiamine-responsive encephalopathy";"199348";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "EAST syndrome";"199343";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated autosomal dominant hypomagnesemia, Glaudemans type";"199326";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Endophthalmitis";"199323";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Endocrine-cerebro-osteodysplasia syndrome";"199332";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital myopathy, Paradas type";"199329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic cerebral malformation";"199633";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tetrasomy 9p";"3310";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital microcephaly";"199642";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome with corpus callosum agenesis/dysgenesis as a major feature";"199639";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy";"199354";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult-onset dystonia-parkinsonism";"199351";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated cerebellar vermis hypoplasia";"199630";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical autism";"199627";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital microgastria";"199293";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Harlequin syndrome";"199282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary hypercarotenemia and vitamin A deficiency";"199285";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial multiple lipomatosis";"199276";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial angiolipomatosis";"199279";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Calcifying aponeurotic fibroma";"199260";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile digital fibromatosis";"199267";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial clubfoot with or without associated lower limb anomalies";"199315";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "15q13.3 microdeletion syndrome";"199318";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tetragametic chimerism";"199310";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated cleft lip";"199302";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft lip/palate";"199306";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital isolated ACTH deficiency";"199296";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Late-onset isolated ACTH deficiency";"199299";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cushing syndrome due to bilateral macronodular adrenocortical disease";"189427";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Superficial fibromatosis";"199257";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ledderhose disease";"199251";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Corticosteroid-binding globulin deficiency";"199247";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nelson syndrome";"199244";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary capillary hemangiomatosis";"199241";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical hemolytic uremic syndrome";"2134";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial isolated hypoparathyroidism due to impaired PTH secretion";"189466";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lennox-Gastaut syndrome";"2382";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Systemic mastocytosis";"2467";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early myoclonic encephalopathy";"1935";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset progressive encephalopathy with migrant continuous myoclonus";"1943";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile spasms syndrome";"3451";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tetanus";"3299";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "American trypanosomiasis";"3386";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Calpain-3-related limb-girdle muscular dystrophy R1";"267";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary biliary cholangitis";"186";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Giant cell arteritis";"397";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple symmetric lipomatosis";"2398";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic syndromic intellectual disability";"183763";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic immune disease";"183770";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic hypothalamic or pituitary disease";"183628";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic diabetes mellitus";"183625";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic parathyroid disease and phosphocalcic metabolism disorder";"183634";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic thyroid disease";"183631";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic neuro-ophthalmological disease";"183616";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic respiratory malformation";"183622";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic eye tumor";"183619";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic lens and zonula anomaly";"183607";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary chronic pancreatitis";"676";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic thrombotic microangiopathy";"183589";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic renal tubular disease";"183592";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Giant axonal neuropathy";"643";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic renal tumor";"183595";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Netherton syndrome";"634";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic branchial arch or oral-acral syndrome";"183576";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic malformation syndrome with odontal and/or periodontal component";"183580";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary sensory and autonomic neuropathy type 4";"642";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic head and neck malformation";"183583";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic glomerular disease";"183586";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic developmental defect of the eye";"183557";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nance-Horan syndrome";"627";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic malformation syndrome with short stature";"183570";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurofibromatosis-Noonan syndrome";"638";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic overgrowth/obesity syndrome";"183573";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic respiratory or mediastinal malformation";"183554";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic visceral malformation of the liver, biliary tract, pancreas or spleen";"183548";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "LCAT deficiency";"650";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic digestive tract malformation";"183545";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic cranial malformation";"183542";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic renal or urinary tract malformation";"183539";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic congenital limb malformation";"183536";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic multiple congenital anomalies/dysmorphic syndrome";"183533";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic developmental defect during embryogenesis";"183530";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Androgen insensitivity syndrome";"754";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic bone tumor";"183527";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic bone disease";"183524";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital factor VII deficiency";"327";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic movement disorder";"183521";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary ataxia";"183518";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic medullar disease";"183515";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Simpson-Golabi-Behmel syndrome";"373";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic epilepsy";"183512";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic headache";"183509";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hyperaldosteronism type I";"403";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acro-renal-mandibular syndrome";"958";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic central nervous system and retinal vascular disease";"183503";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic central nervous system malformation";"183506";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "21q deletion syndrome";"574";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic neuromuscular disease";"183497";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XX gonadal dysgenesis";"243";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy";"136";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic urogenital tract malformation of male";"182121";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic urogenital tract malformation of male and female";"182124";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tumor of endocrine glands";"182130";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe combined immunodeficiency due to DCLRE1C deficiency";"275";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Channelopathy with epilepsy";"182083";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired peripheral neuropathy";"182086";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary arterial hypertension";"182090";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Interstitial lung disease";"182095";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pneumoconiosis";"182098";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic eosinophilic pneumonia";"182101";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease";"182104";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thoracic malformation";"182108";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chylomicron retention disease";"71";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glial tumor";"182067";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare neuroinflammatory or neuroimmunological disease";"182064";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebellar malformation";"182061";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary orthostatic hypotension";"182058";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ARX-related epileptic encephalopathy";"182079";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hidrotic ectodermal dysplasia";"189";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Uveal coloboma-cleft lip and palate-intellectual disability";"1473";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare neurodegenerative disease";"182070";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare aplastic anemia";"182040";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare thrombotic disease of hematologic origin";"182054";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MYH9-related disease";"182050";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare acquired hemolytic anemia";"182047";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare constitutional hemolytic anemia";"182043";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperalphalipoproteinemia";"181428";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hypoaldosteronism";"181419";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hyperlipidemia";"181422";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare syndromic dyslipidemia";"181437";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder with hypergonadotropic hypogonadism";"181441";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hypolipidemia";"181431";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome with hypoparathyroidism";"181402";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adrenogenital syndrome";"181412";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare primary hyperaldosteronism";"181415";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hypoparathyroidism";"181405";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial progressive cardiac conduction defect";"871";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hyperparathyroidism";"181408";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal deletion 3p";"1620";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Xp22.3 microdeletion syndrome";"1643";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leprosy";"548";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial or sporadic hemiplegic migraine";"569";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic anorectal malformation";"557";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 8 syndrome";"1450";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 6 syndrome";"1448";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal deletion 10p";"1580";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 1 syndrome";"1437";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive familial intrahepatic cholestasis";"172";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 4 syndrome";"1447";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 20 syndrome";"1444";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 12 syndrome";"1439";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic trisomy 16";"1708";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic trisomy 17";"1711";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Triploidy";"3376";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic trisomy 1";"1692";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic trisomy 12";"1698";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic trisomy 15";"1706";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 21 syndrome";"1445";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Achalasia-microcephaly syndrome";"929";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Insulin-resistance syndrome type A";"2297";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Abruzzo-Erickson syndrome";"921";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3-hydroxyisobutyric aciduria";"939";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oxoglutaric aciduria";"31";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short-limb skeletal dysplasia with severe combined immunodeficiency";"935";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Achondrogenesis";"932";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrodermatitis enteropathica";"37";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrodysostosis";"950";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrocraniofacial dysostosis";"949";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acalvaria";"945";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acropectorovertebral dysplasia";"957";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hajdu-Cheney syndrome";"955";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrofacial dysostosis, Weyers type";"952";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-distal duplication 13q";"1702";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic trisomy 14";"1703";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 14q";"1705";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "17p11.2 microduplication syndrome";"1713";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trisomy 4p";"1738";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal duplication 6p";"1745";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trisomy 8q";"1752";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proximal Xq28 duplication syndrome";"1762";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amelocerebrohypohidrotic syndrome";"1946";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epilepsy-telangiectasia syndrome";"1951";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carnitine palmitoyl transferase 1A deficiency";"156";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial myopathy-lactic acidosis-deafness syndrome";"2597";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial myopathy and sideroblastic anemia";"2598";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thumb stiffness-brachydactyly-intellectual disability syndrome";"1078";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dental ankylosis";"1077";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ankyloblepharon filiforme adnatum-imperforate anus syndrome";"1074";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ankyloblepharon filiforme adnatum-cleft palate syndrome";"1072";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome";"1071";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aniridia-absent patella syndrome";"1069";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aniridia-intellectual disability syndrome";"1068";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aniridia-ptosis-intellectual disability-familial obesity syndrome";"1067";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aniridia-renal agenesis-psychomotor retardation syndrome";"1064";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fibular aplasia-ectrodactyly syndrome";"1118";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aplasia cutis-myopia syndrome";"1117";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome";"1110";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aphalangy-syndactyly-microcephaly syndrome";"1113";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome";"1112";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microphthalmia with limb anomalies";"1106";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anophthalmia plus syndrome";"1104";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anonychia-microcephaly syndrome";"1094";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Orofacial clefting syndrome";"139039";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Agnathia-holoprosencephaly-situs inversus syndrome";"990";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypoglossia-hypodactyly syndrome";"989";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malformation syndrome with odontal and/or periodontal component";"139042";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fetal akinesia deformation sequence";"994";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malformation syndrome with short stature";"139021";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Internal carotid absence";"981";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Overgrowth/obesity syndrome";"139024";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ADULT syndrome";"978";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adrenomyodystrophy";"977";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome";"988";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progeroid syndrome";"139033";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Branchial arch or oral-acral syndrome";"139036";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare developmental defect with skin/mucosae involvement";"139027";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Testicular regression syndrome";"983";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare developmental defect with connective tissue involvement";"139030";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary sensory and autonomic neuropathy type 2";"970";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrorenal syndrome";"971";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acromicric dysplasia";"969";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare bone development disorder";"139012";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adams-Oliver syndrome";"974";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Developmental anomaly of metabolic origin";"139009";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary continuous muscle fiber activity";"972";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital absence/hypoplasia of fingers excluding thumb, unilateral";"973";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acro-renal-ocular syndrome";"959";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acromesomelic dysplasia, Hunter-Thompson type";"968";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carney triad";"139411";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital panfollicular nevus";"139414";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amelo-onycho-hypohidrotic syndrome";"1028";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute transverse myelitis";"139417";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Enamel-renal syndrome";"1031";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic acute transverse myelitis";"139423";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Perioral myoclonia with absences";"139426";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Jeavons syndrome";"139431";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beta-mercaptolactate cysteine disulfiduria";"1035";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multicentric reticulohistiocytosis";"139436";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amaurosis-hypertrichosis syndrome";"1021";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital generalized hypertrichosis, Ambras type";"1023";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic craniosynostosis";"139390";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic craniosynostosis";"139393";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked cerebral adrenoleukodystrophy";"139396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adrenomyeloneuropathy";"139399";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Drug reaction with eosinophilia and systemic symptoms";"139402";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive amelia";"1027";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Encephalopathy due to prosaposin deficiency";"139406";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome";"1008";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant palmoplantar keratoderma and congenital alopecia";"1010";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome";"1014";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "2q37 microdeletion syndrome";"1001";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Allan-Herndon-Dudley syndrome";"59";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Scalp defects-postaxial polydactyly syndrome";"1003";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alopecia-contractures-dwarfism-intellectual disability syndrome";"1005";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maxillonasal dysplasia";"1248";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Borjeson-Forssman-Lehmann syndrome";"127";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tricho-retino-dento-digital syndrome";"1264";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Böök syndrome";"1262";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Boomerang dysplasia";"1263";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blepharoptosis-myopia-ectopia lentis syndrome";"1259";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bonnemann-Meinecke-Reich syndrome";"1261";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bartsocas-Papas syndrome";"1234";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Barber-Say syndrome";"1231";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital intrauterine infection-like syndrome";"1229";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bannayan-Riley-Ruvalcaba syndrome";"109";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Banki syndrome";"1228";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bencze syndrome";"1241";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metaphyseal acroscyphodysplasia";"1240";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beemer-Ertbruggen syndrome";"1237";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Auriculoosteodysplasia";"114";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital contractural arachnodactyly";"115";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome";"1236";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intractable diarrhea-choanal atresia-eye anomalies syndrome";"137622";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cardiac anomalies-heterotaxy syndrome";"137628";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to muscle and heart glycogen synthase deficiency";"137625";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome";"137608";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pellucid marginal degeneration";"137672";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Capillary malformation-arteriovenous malformation";"137667";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Overgrowth-macrocephaly-facial dysmorphism syndrome";"137634";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome";"137631";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome";"137639";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal hypoxic and ischemic brain injury";"137577";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vulvar intraepithelial neoplasia";"137583";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bowen-Conradi syndrome";"1270";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Legius syndrome";"137605";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infectious epithelial keratitis";"137593";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurotrophic keratopathy";"137596";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly-preaxial hallux varus syndrome";"1278";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Herpes simplex virus stromal keratitis";"137599";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Corneal endotheliitis";"137602";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital unilateral hypoplasia of depressor anguli oris";"1166";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ataxia-oculomotor apraxia type 1";"1168";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extrapelvic endometriosis";"137820";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chylous ascites";"1160";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arachnoiditis";"137817";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macular amyloidosis";"137814";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebellar ataxia-ectodermal dysplasia syndrome";"1174";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lemierre syndrome";"137839";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Frank-Ter Haar syndrome";"137834";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-cerebellar hypoplasia syndrome";"137831";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cerebelloparenchymal disorder type 3";"1170";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ataxia-tapetoretinal degeneration syndrome";"1178";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked progressive cerebellar ataxia";"1175";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ataxia-hypogonadism-choroidal dystrophy syndrome";"1180";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign paroxysmal tonic upgaze of childhood with ataxia";"1179";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebellar ataxia-hypogonadism syndrome";"1173";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Madras motor neuron disease";"137867";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1";"137681";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Histiocytoid cardiomyopathy";"137675";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alopecia totalis";"700";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepiphyseal dysplasia with metatarsal shortening";"137678";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tessier number 7 facial cleft";"141276";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk";"137698";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurological conditions associated with aminoacylase 1 deficiency";"137754";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile-onset X-linked spinal muscular atrophy";"1145";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome";"1144";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Asherman syndrome";"137686";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal congenital contracture syndrome type 2";"137776";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arthrogryposis multiplex congenita-whistling face syndrome";"1150";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kuskokwim syndrome";"1149";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary cutaneous amyloidosis";"137807";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive pseudorheumatoid arthropathy of childhood";"1159";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nodular cutaneous amyloidosis";"137810";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal congenital contracture syndrome type 3";"137783";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive hemifacial atrophy";"1214";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant optic atrophy plus syndrome";"1215";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pierre Robin syndrome associated with collagen disease";"138041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant congenital benign spinal muscular atrophy";"1216";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cheilitis glandularis";"1221";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Baller-Gerold syndrome";"1225";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bamforth-Lazarus syndrome";"1226";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bangstad syndrome";"1227";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ataxia-photosensitivity-short stature syndrome";"1184";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic ataxia with congenital miosis";"1182";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Auriculocondylar syndrome";"137888";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Male infertility due to large-headed multiflagellar polyploid spermatozoa";"137893";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile-onset spinocerebellar ataxia";"1186";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia-dysmorphism syndrome";"1185";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome";"137898";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ataxia-deafness-intellectual disability syndrome";"1188";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic optic nerve hypoplasia";"137905";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal ataxia with deafness and optic atrophy";"1187";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atelosteogenesis type I";"1190";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypotonia with lactic acidemia and hyperammonemia";"137908";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Choanal atresia";"137914";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atkin-Flaitz syndrome";"1193";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Choanal atresia, unilateral";"137917";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Burn-McKeown syndrome";"1200";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Choanal atresia, bilateral";"137920";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Colonic atresia";"1198";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary laryngeal lymphangioma";"137926";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal brainstem dysfunction";"137929";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Duodenal atresia";"1203";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary atresia-intact ventricular septum syndrome";"1208";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital laryngeal palsy";"137932";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laryngotracheal angioma";"137935";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paramedian nasal cleft";"141242";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Median cleft of the upper lip and maxilla";"141239";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Median facial cleft";"141234";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tessier number 5 facial cleft";"141261";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tessier number 4 facial cleft";"141258";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oblique facial cleft";"141253";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebrofacial arteriovenous metameric syndrome type 3";"141199";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebrofacial arteriovenous metameric syndrome type 1";"141194";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebrofacial arteriovenous metameric syndrome";"141189";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rapidly involuting congenital hemangioma";"141184";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Otospondylomegaepiphyseal dysplasia";"1427";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Xq21 microdeletion syndrome";"1435";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nasal dorsum fistula";"141219";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked skeletal dysplasia-intellectual disability syndrome";"1436";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital syngnathia";"141214";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diffuse lymphatic malformation";"141209";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Choroidal atrophy-alopecia syndrome";"1433";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare head and neck malformation";"155832";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Contractures-ectodermal dysplasia-cleft lip/palate syndrome";"1484";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cysts and fistulae of the face and oral cavity";"155835";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Biemond syndrome type 2";"141333";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Submucosal cleft palate";"155878";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Corneal dystrophy-perceptive deafness syndrome";"1490";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cooks syndrome";"1487";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pinnae fistula or cyst";"155838";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paramedian facial cleft";"155867";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal congenital contracture syndrome type 1";"1486";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tessier number 6 facial cleft";"141265";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "COFS syndrome";"1466";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lateral facial cleft";"141269";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Orofaciodigital syndrome type 12";"141327";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Orofaciodigital syndrome type 13";"141330";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coloboma of macula-brachydactyly type B syndrome";"1471";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Midline cervical cleft";"141288";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft lip and alveolus";"141291";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polyrrhinia";"141091";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nasolacrimal duct cyst";"141083";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Uncombable hair syndrome";"1410";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proboscis lateralis";"141099";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Supernumerary nostril";"141096";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tarsal-carpal coalition syndrome";"1412";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nasopharyngeal teratoma";"141107";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nasal dermoid cyst";"141103";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nasal ganglioglioma";"141115";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial calcium pyrophosphate deposition";"1416";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nasal glial heterotopia";"141112";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebrofaciothoracic dysplasia";"1394";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hydrocephaly-cerebellar agenesis syndrome";"1397";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated cerebellar agenesis";"1398";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Richards-Rundle syndrome";"1399";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epignathus";"141077";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CHAND syndrome";"1401";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital hypoglossia/aglossia";"141152";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glossopalatine ankylosis";"141163";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Frontonasal arteriovenous malformation";"141168";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maxillary arteriovenous malformation";"141171";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Desbuquois syndrome";"1425";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mandibular arteriovenous malformation";"141174";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-involuting congenital hemangioma";"141179";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nasal encephalocele";"141118";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital subglottic stenosis";"141121";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital laryngeal cyst";"141124";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital tracheal stenosis";"141127";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculo-auriculo-vertebral spectrum";"141132";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemifacial hyperplasia";"141145";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemifacial myohyperplasia";"141148";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepimetaphyseal dysplasia, matrilin-3 type";"156728";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cataract-hypertrichosis-intellectual disability syndrome";"1375";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic endocrine growth disease";"156643";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic endocrine disease";"156638";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic cause of hypertension";"156629";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cataract-aberrant oral frenula-growth delay syndrome";"1373";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic urogenital tract malformation";"156622";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic urogenital disease";"156619";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cataract-ataxia-deafness syndrome";"1368";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic respiratory disease";"156610";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive palmoplantar keratoderma and congenital alopecia";"1366";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic biliary tract disease";"156607";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic parenchymatous liver disease";"156604";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic hepatic disease";"156601";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare syndrome with cardiac malformations";"156532";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tracheal anomaly";"156252";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carnosinase deficiency";"1361";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinal ciliopathy due to mutation in Bardet-Biedl gene";"156183";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Otomandibular dysplasia associated with monogenic syndromes";"156202";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene";"156168";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinal ciliopathy due to mutation in the RPGR gene";"156171";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinal ciliopathy due to mutation in the RPGRIP gene";"156174";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated ATP synthase deficiency";"254913";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinal ciliopathy due to mutation in Usher gene";"156177";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pentalogy of Cantrell";"1335";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrofacial dysostosis, Catania type";"1786";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrofacial dysostosis, Rodríguez type";"1788";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypotrichosis with juvenile macular degeneration";"1573";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinal degeneration-nanophthalmos-glaucoma syndrome";"1574";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal deletion 15q";"1596";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal hereditary motor neuropathy type 2";"139525";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal hereditary motor neuropathy type 1";"139518";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal spinal muscular atrophy type 3";"139547";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal hereditary motor neuropathy type 5";"139536";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked distal spinal muscular atrophy type 3";"139557";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal hereditary motor neuropathy, Jerash type";"139552";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hall-Riggs syndrome";"2107";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary sensory and autonomic neuropathy with deafness and global delay";"139573";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sporadic fetal brain disruption sequence";"1665";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary sensory and autonomic neuropathy type 1B";"139564";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked hereditary sensory and autonomic neuropathy with deafness";"139583";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mutilating hereditary sensory neuropathy with spastic paraplegia";"139578";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal hereditary motor neuropathy type 7";"139589";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Split cord malformation type I";"1671";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Stapes ankylosis with broad thumbs and toes";"140917";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cryptorchidism-arachnodactyly-intellectual disability syndrome";"1548";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cryptomicrotia-brachydactyly-excess fingertip arch syndrome";"1547";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Titin-related limb-girdle muscular dystrophy R10";"140922";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Crisponi syndrome";"1545";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency";"140905";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Jackson-Weiss syndrome";"1540";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly type B2";"140908";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Joubert syndrome and related disorders";"140874";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe acute respiratory syndrome";"140896";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gómez-López-Hernández syndrome";"1532";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndactyly-telecanthus-anogenital and renal malformations syndrome";"140952";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant macrothrombocytopenia";"140957";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Low-flow priapism";"140949";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome";"1555";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lelis syndrome";"140936";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature due to primary acid-labile subunit deficiency";"140941";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Curry-Jones syndrome";"1553";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign familial neonatal-infantile seizures";"140927";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Linear atrophoderma of Moulin";"140933";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary angiitis of the central nervous system";"140989";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dandy-Walker malformation-postaxial polydactyly syndrome";"1566";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "RHYNS syndrome";"140976";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dahlberg-Borer-Newcomer syndrome";"1563";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Saldino-Mainzer syndrome";"140969";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Palmoplantar keratoderma, Nagashima type";"140966";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dacryocystitis-osteopoikilosis syndrome";"1562";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bilateral microtia-deafness-cleft palate syndrome";"140963";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cervical dermoid cyst";"141046";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fourth branchial cleft anomaly";"141037";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Third branchial cleft anomaly";"141030";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Second branchial cleft anomaly";"141022";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "First branchial cleft anomaly";"141013";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Knobloch syndrome";"1571";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Orofaciodigital syndrome type 9";"141007";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial benign copper deficiency";"1551";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome";"1568";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Orofaciodigital syndrome type 11";"141000";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Orofaciodigital syndrome";"140997";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary intraosseous venous malformation";"140436";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant hereditary demyelinating motor and sensory neuropathy";"140453";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary hypoparathyroidism due to impaired parathormon secretion";"140286";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive distal hereditary motor neuropathy";"140468";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary sensory and autonomic neuropathy";"140471";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Antecubital pterygium syndrome";"2987";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant hereditary sensory and autonomic neuropathy";"140474";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive hereditary sensory and autonomic neuropathy";"140477";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant hereditary axonal motor and sensory neuropathy";"140456";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive hereditary demyelinating motor and sensory neuropathy";"140459";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant distal hereditary motor neuropathy";"140465";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniodigital-intellectual disability syndrome";"1514";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant slowed nerve conduction velocity";"140481";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cranioectodermal dysplasia";"1515";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic bilambdoid and sagittal craniosynostosis";"1516";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniosynostosis, Philadelphia type";"1527";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome";"1970";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal faciocardiomelic dysplasia";"1972";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive faciodigitogenital syndrome";"1974";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Exostoses-anetodermia-brachydactyly type E syndrome";"1962";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome";"1964";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysplasia epiphysealis hemimelica";"1822";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lowry-Wood syndrome";"1824";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epiphyseal stippling-osteoclastic hyperplasia syndrome";"1952";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital lethal erythroderma";"1954";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 34";"1955";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diabetic embryopathy";"1926";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Emery-Nelson syndrome";"1927";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Eng-Strom syndrome";"1937";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Toluene embryopathy";"1920";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Phenobarbital embryopathy";"1919";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fetal methylmercury syndrome";"1917";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methimazole embryofetopathy";"1923";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fetal hydantoin syndrome";"1912";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fetal minoxidil syndrome";"1918";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cocaine embryofetopathy";"1911";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fetal iodine syndrome";"1910";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diethylstilbestrol syndrome";"1916";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vitamin K antagonist embryofetopathy";"1914";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fetal trimethadione syndrome";"1913";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "EEC syndrome";"1896";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "EEM syndrome";"1897";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aminopterin/methotrexate embryofetopathy";"1908";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Indomethacin embryofetopathy";"1909";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fetal valproate spectrum disorder";"1906";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Edinburgh malformation syndrome";"1895";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-spasticity-ectrodactyly syndrome";"1891";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ectrodactyly-polydactyly syndrome";"1892";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome";"1816";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Focal facial dermal dysplasia type III";"1807";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ectodermal dysplasia, trichoodontoonychial type";"1818";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ectodermal dysplasia-sensorineural deafness syndrome";"1883";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome";"1882";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome";"1875";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Jalili syndrome";"1873";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Melorheostosis with osteopoikilosis";"1879";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary bullous dystrophy, macular type";"1867";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cone rod dystrophy";"1872";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive cone dystrophy";"1871";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thanatophoric dysplasia type 1";"1860";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thoracic dysplasia-hydrocephalus syndrome";"1861";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dyssegmental dysplasia, Silverman-Handmaker type";"1865";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Skeletal dysplasia-epilepsy-short stature syndrome";"1858";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked retinal dysplasia";"1852";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bone dysplasia, lethal Holmgren type";"1842";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary mucoepithelial dysplasia";"1839";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ulna metaphyseal dysplasia syndrome";"1837";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mesomelic dysplasia, Kantaputra type";"1836";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Axial mesodermal dysplasia spectrum";"1834";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Schimke immuno-osseous dysplasia";"1830";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome";"1825";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Odontomicronychial dysplasia";"1811";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome";"1812";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hidrotic ectodermal dysplasia, Christianson-Fourie type";"1808";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hidrotic ectodermal dysplasia, Halal type";"1809";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ectodermal dysplasia-blindness syndrome";"1806";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ghosal hematodiaphyseal dysplasia";"1802";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thoracomelic dysplasia";"1803";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kyphomelic dysplasia";"1801";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysostosis, Stanescu type";"1798";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial developmental dysphasia";"1799";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hennekam syndrome";"2136";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XX ovotesticular difference of sex development";"2138";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hernández-Aguirre Negrete syndrome";"2139";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diaphragmatic defect-limb deficiency-skull defect syndrome";"2141";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Donnai-Barrow syndrome";"2143";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniosynostosis, Herrmann-Opitz type";"2145";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nodular neuronal heterotopia";"2149";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lissencephaly type 1 due to doublecortin gene mutation";"2148";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hallermann-Streiff syndrome";"2108";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hallux varus-preaxial polysyndactyly syndrome";"2110";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hallermann-Streiff-like syndrome";"2109";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cystic hamartoma of lung and kidney";"2111";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Harrod syndrome";"2115";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature-craniofacial anomalies-genital hypoplasia syndrome";"2994";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysmorphism-pectus carinatum-joint laxity syndrome";"2104";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GAPO syndrome";"2067";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Galloway-Mowat syndrome";"2065";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genitopalatocardiac syndrome";"2075";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gemignani syndrome";"2074";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome";"2072";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Geroderma osteodysplastica";"2078";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "German syndrome";"2077";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glaucoma-sleep apnea syndrome";"2085";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome";"2084";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Prominent glabella-microcephaly-hypogenitalism syndrome";"2083";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Flynn-Aird syndrome";"2047";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Foix-Chavany-Marie syndrome";"2048";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cole-Carpenter syndrome";"2050";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Splenogonadal fusion-limb defects-micrognathia syndrome";"2063";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome";"2064";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome";"2057";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fryns syndrome";"2059";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gingival fibromatosis-hypertrichosis syndrome";"2026";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gingival fibromatosis-facial dysmorphism syndrome";"2025";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile hyaline fibromatosis";"2028";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gingival fibromatosis-progressive deafness syndrome";"2027";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fibrochondrogenesis";"2021";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Femur-fibula-ulna complex";"2019";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary gingival fibromatosis";"2024";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Endocardial fibroelastosis";"2022";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paraplegia-intellectual disability-hyperkeratosis syndrome";"2824";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "FLOTCH syndrome";"2045";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Floating-Harbor syndrome";"2044";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hepatic fibrosis-renal cysts-intellectual disability syndrome";"2031";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Scalp-ear-nipple syndrome";"2036";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Median cleft lip/mandible";"2006";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alar cartilages hypoplasia-coloboma-telecanthus syndrome";"2007";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft lip/palate-deafness-sacral lipoma syndrome";"2003";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laryngotracheoesophageal cleft";"2004";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft lip/palate-intestinal malrotation-cardiopathy syndrome";"2001";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Localized dystrophic epidermolysis bullosa, acral form";"158673";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ectodermal dysplasia-skin fragility syndrome";"158668";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft palate-lateral synechia syndrome";"2016";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sternal cleft";"2017";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft palate-large ears-small head syndrome";"2013";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft palate-stapes fixation-oligodontia syndrome";"2010";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated bone marrow mastocytosis";"158778";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Smoldering systemic mastocytosis";"158775";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nodular urticaria pigmentosa";"158772";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrocardiofacial syndrome";"2008";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Femoral agenesis/hypoplasia";"1987";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gollop-Wolfgang complex";"1986";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mayer-Rokitansky-Küster-Hauser syndrome type 1";"247775";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Müllerian aplasia and hyperandrogenism";"247768";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "FTH1-related iron overload";"247790";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MUTYH-related attenuated familial adenomatous polyposis";"247798";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile cataract-microcornea-renal glucosuria syndrome";"247794";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive ataxia due to PEX10 deficiency";"247815";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "APC-related attenuated familial adenomatous polyposis";"247806";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations";"247691";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Keratosis follicularis spinulosa decalvans";"2340";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Odontohypophosphatasia";"247685";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Haim-Munk syndrome";"2342";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple endocrine neoplasia type 2B";"247709";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple endocrine neoplasia type 2A";"247698";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic eosinophilic myositis";"247724";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inflammatory myopathy with abundant macrophages";"247718";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked cerebellar ataxia";"247765";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lipoblastoma";"247762";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal Kniest-like dysplasia";"2347";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Citrullinemia type II";"247585";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kenny-Caffey syndrome";"2333";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal intrahepatic cholestasis due to citrin deficiency";"247598";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "KBG syndrome";"2332";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile primary lateral sclerosis";"247604";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Perinatal lethal hypophosphatasia";"247623";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Prenatal benign hypophosphatasia";"247638";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated punctate palmoplantar keratoderma";"2338";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-epidermolytic palmoplantar keratoderma";"2337";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile hypophosphatasia";"247651";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Childhood-onset hypophosphatasia";"247667";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Keratosis follicularis-dwarfism-cerebral atrophy syndrome";"2339";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult hypophosphatasia";"247676";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kabuki syndrome";"2322";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive secondary polycythemia not associated with VHL gene";"247378";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteopenia-intellectual disability-sparse hair syndrome";"2324";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant secondary polycythemia";"247511";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sanjad-Sakati syndrome";"2323";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary ciliary dyskinesia-retinitis pigmentosa syndrome";"247522";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Citrullinemia type I";"247525";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute neonatal citrullinemia type I";"247546";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidermolysis bullosa simplex with anodontia/hypodontia";"2325";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Late-onset citrullinemia type I";"247573";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Karsch-Neugebauer syndrome";"2329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Citrin deficiency";"247582";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kapur-Toriello syndrome";"2328";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare thrombotic disorder due to an acquired platelet anomaly";"248404";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lowe-Kohn-Cohen syndrome";"2408";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare thrombotic disorder due to a constitutional platelet anomaly";"248401";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lowry-MacLean syndrome";"2409";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thickened earlobes-conductive deafness syndrome";"2405";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare thrombotic disorder due to a platelet anomaly";"248368";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare thrombotic disorder due to an acquired coagulation factors defect";"248365";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laryngo-onycho-cutaneous syndrome";"2407";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic polycythemia";"250165";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dislocation of the hip-dysmorphism syndrome";"2412";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hypodysfibrinogenemia";"248408";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypergonadotropic hypogonadism-cataract syndrome";"2410";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hemorrhagic disorder due to a platelet anomaly";"248326";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nasopalpebral lipoma-coloboma syndrome";"2399";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hemorrhagic disorder due to a coagulation factors defect";"248315";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peripheral motor neuropathy-dysautonomia syndrome";"2400";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hemorrhagic disorder";"248308";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Encephalocraniocutaneous lipomatosis";"2396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare thrombotic disorder due to a constitutional coagulation factors defect";"248361";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare thrombotic disorder due to a coagulation factors defect";"248358";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hemorrhagic disorder due to an acquired platelet anomaly";"248347";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated delta-storage pool disease";"248340";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Choreoacanthocytosis";"2388";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile Huntington disease";"248111";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leukonychia totalis";"2387";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leukoencephalopathy-palmoplantar keratoderma syndrome";"2386";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary hypertrophic osteoarthropathy";"248095";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset parkinsonism-intellectual disability syndrome";"2379";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare acquired deficiency anemia";"248302";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenitally short costocoracoid ligament";"2391";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare deficiency anemia";"248293";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lichtenstein syndrome";"2390";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Constitutional deficiency anemia";"248296";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Occult macular dystrophy";"247834";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal Larsen-like syndrome";"2371";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Limb body wall complex";"2369";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome";"247820";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome";"247827";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laurin-Sandrow syndrome";"2378";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "NLRP12-associated hereditary periodic fever syndrome";"247868";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laryngeal abductor paralysis-intellectual disability syndrome";"2375";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial supernumerary nipples";"2456";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mandibuloacral dysplasia";"2457";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Generalized pustular psoriasis";"247353";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperphosphatasia-intellectual disability syndrome";"247262";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inhalational anthrax";"247257";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Superficial siderosis";"247245";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired ataxia";"247242";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-hereditary degenerative ataxia";"247239";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sporadic adult-onset ataxia of unknown etiology";"247234";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Collecting duct carcinoma";"247203";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive cerebello-cerebral atrophy";"247198";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile mercury poisoning";"247165";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Marfanoid habitus-autosomal recessive intellectual disability syndrome";"2463";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Marden-Walker syndrome";"2461";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anaplastic oligodendroglioma";"251630";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-glomerulonephritis-marfanoid habitus syndrome";"2172";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ependymoma";"251636";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Subependymoma";"251639";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myxopapillary ependymoma";"251643";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anaplastic ependymoma";"251646";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oligoastrocytic tumor";"251651";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hydrocephaly-tall stature-joint laxity syndrome";"2181";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oligoastrocytoma";"251656";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome";"2180";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anaplastic oligoastrocytoma";"251663";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hydrocephalus-blue sclerae-nephropathy syndrome";"2186";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glial tumor of neuroepithelial tissue with unknown origin";"251668";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Angiocentric glioma";"251671";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hydrolethalus";"2189";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chordoid glioma";"251674";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Astroblastoma";"251679";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement";"2196";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Embryonal tumor of neuroepithelial tissue";"251852";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hirschsprung disease-deafness-polydactyly syndrome";"2155";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gemistocytic astrocytoma";"251604";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fibrillary astrocytoma";"251601";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Histidinuria-renal tubular defect syndrome";"2158";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pilocytic astrocytoma";"251612";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Holoprosencephaly-craniosynostosis syndrome";"2163";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pleomorphic xanthoastrocytoma";"251607";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Subependymal giant cell astrocytoma";"251618";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Holoprosencephaly-caudal dysgenesis syndrome";"2165";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pilomyxoid astrocytoma";"251615";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Holoprosencephaly-postaxial polydactyly syndrome";"2166";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methylcobalamin deficiency type cblE";"2169";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extraventricular neurocytoma";"251927";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebellar liponeurocytoma";"251931";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypertrichosis lanuginosa congenita";"2222";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pineal parenchymal tumor of intermediate differenciation";"251919";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypertrichosis cubiti";"2220";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuronal tumor";"251924";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome";"2234";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Focal palmoplantar and gingival keratoderma";"2200";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Palmoplantar keratoderma-esophageal carcinoma syndrome";"2198";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Medulloblastoma with extensive nodularity";"251858";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anaplastic/large cell medulloblastoma";"251855";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ankylosing vertebral hyperostosis with tylosis";"2206";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Palmoplantar keratoderma-spastic paralysis syndrome";"2201";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Palmoplantar keratoderma-deafness syndrome";"2202";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Central nervous system embryonal tumor";"251870";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical papilloma of choroid plexus";"251902";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Choroid plexus carcinoma";"251899";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypertelorism-microtia-facial clefting syndrome";"2213";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Choroid plexus tumor";"251896";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypertelorism-hypospadias-polysyndactyly syndrome";"2211";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Papillary tumor of the pineal region";"251915";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pineocytoma";"251912";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cervical hypertrichosis-peripheral neuropathy syndrome";"2218";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pineoblastoma";"251909";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple pterygium-malignant hyperthermia syndrome";"2215";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pineal tumor of neuroepithelial tissue";"251905";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maternal hyperthermia-induced birth defects";"2216";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary neutrophilia";"279943";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypotrichosis-intellectual disability, Lopes type";"2266";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome";"2269";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypospadias-intellectual disability, Goldblatt type syndrome";"2261";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Superficial epidermolytic ichthyosis";"455";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ichthyosis-oral and digital anomalies syndrome";"2272";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome";"2274";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ichthyosis follicularis-alopecia-photophobia syndrome";"2273";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital ichthyosis-microcephalus-tetraplegia syndrome";"2271";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebellar hypoplasia-tapetoretinal degeneration syndrome";"2246";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ulna hypoplasia-intellectual disability syndrome";"2249";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial isolated hypoparathyroidism due to agenesis of parathyroid gland";"2239";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Megacystis-microcolon-intestinal hypoperistalsis syndrome";"2241";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fibulo-ulnar hypoplasia-renal anomalies syndrome";"2256";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary pulmonary hypoplasia";"2257";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome";"2250";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thumb deformity-alopecia-pigmentation anomaly syndrome";"2251";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome";"2252";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome";"2255";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isotretinoin-like syndrome";"2306";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isotretinoin syndrome";"2305";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hyperaldosteronism type III";"251274";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial osteochondritis dissecans";"251262";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ataxia-telangiectasia-like disorder";"251347";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unexplained long-lasting fever/inflammatory syndrome";"251332";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unclassified vasculitis";"251328";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Drug-induced vasculitis";"251325";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Overlapping connective tissue disease";"251312";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic recurrent pericarditis";"251307";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile onset panniculitis with uveitis and systemic granulomatosis";"251304";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Exercise intolerance with lactic acidosis";"254843";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated oxidative phosphorylation complex disorder";"254846";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unspecified mitochondrial disorder";"254837";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuhauser-Eichner-Opitz syndrome";"2672";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal infantile mitochondrial myopathy";"254857";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial isolated café-au-lait macules";"2678";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial myopathy with reversible cytochrome C oxidase deficiency";"254864";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial DNA-related dystonia";"254851";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pure mitochondrial myopathy";"254854";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nephropathy-deafness-hyperparathyroidism syndrome";"2668";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nathalie syndrome";"2663";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Keipert syndrome";"2662";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neu-Laxova syndrome";"2671";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial protein import disorder";"254834";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pierson syndrome";"2670";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nephrosis-deafness-urinary tract-digital malformations syndrome";"2669";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 7";"254930";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 4";"254925";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arthrogryposis-renal dysfunction-cholestasis syndrome";"2697";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 2";"254920";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyruvate dehydrogenase E3-binding protein deficiency";"255182";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Noonan syndrome-like disorder with loose anagen hair";"2701";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyruvate dehydrogenase E1-beta deficiency";"255138";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult-onset autosomal recessive sideroblastic anemia";"255132";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome";"2698";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Median nodule of the upper lip";"2699";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive progressive external ophthalmoplegia";"254886";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia with epilepsy";"254881";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial DNA depletion syndrome, myopathic form";"254875";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial DNA depletion syndrome, hepatocerebral form";"254871";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated cytochrome C oxidase deficiency";"254905";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal tubulopathy-encephalopathy-liver failure syndrome";"254902";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neutropenia-monocytopenia-deafness syndrome";"2690";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome";"254898";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant progressive external ophthalmoplegia";"254892";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculo-palato-cerebral syndrome";"2714";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculoosteocutaneous syndrome";"2713";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe oculo-renal-cerebellar syndrome";"2715";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculotrichodysplasia";"2718";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculotrichoanal syndrome";"2717";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Port-wine nevi-mega cisterna magna-hydrocephalus syndrome";"2703";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial DNA-associated Leigh syndrome";"255210";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Navajo neurohepatopathy";"255229";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculocerebrofacial syndrome, Kaufman type";"2707";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy";"255235";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculodentodigital dysplasia";"2710";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculodental syndrome, Rutherfurd type";"2709";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blepharophimosis-intellectual disability syndrome, Ohdo type";"2728";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Postaxial tetramelic oligodactyly";"2730";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Orofaciodigital syndrome type 8";"2755";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Orofaciodigital syndrome type 6";"2754";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Orofaciodigital syndrome type 4";"2753";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Orofaciodigital syndrome type 3";"2752";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Orofaciodigital syndrome type 2";"2751";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Orofaciodigital syndrome type 1";"2750";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome";"2743";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ophthalmomandibulomelic dysplasia";"2741";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal omphalocele-cleft palate syndrome";"2736";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mixed germ cell tumor of central nervous system";"252021";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive distal osteolysis syndrome";"2776";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteomesopyknosis";"2777";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Plectin-related limb-girdle muscular dystrophy R17";"254361";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multicentric carpo-tarsal osteolysis with or without nephropathy";"2774";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal 7q11.23 microdeletion syndrome";"254351";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial osteodysplasia, Anderson type";"2769";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "19p13.12 microdeletion syndrome";"254346";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nasu-Hakola disease";"2770";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome";"254343";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carpotarsal osteochondromatosis";"2767";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B";"254334";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive osseous heteroplasia";"2762";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant triton tumor";"252212";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteocraniostenosis";"2763";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Melanoma and neural system tumor syndrome";"252206";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Constitutional mismatch repair deficiency syndrome";"252202";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Imperforate oropharynx-costovertebral anomalies syndrome";"2759";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "OSLAM syndrome";"2760";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inherited nervous system cancer-predisposing syndrome";"252190";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurofibroma";"252183";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vestibular schwannoma";"252175";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Temple syndrome";"254516";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Otoonychoperoneal syndrome";"2793";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Otofaciocervical syndrome";"2792";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kagami-Ogata syndrome";"254519";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Temple syndrome due to paternal 14q32.2 microdeletion";"254525";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pachygyria-intellectual disability-epilepsy syndrome";"2798";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pachydermoperiostosis";"2796";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion";"254528";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lichen planus pemphigoides";"254478";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lateral meningocele syndrome";"2789";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteoporosis-pseudoglioma syndrome";"2788";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Frontal fibrosing alopecia";"254492";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Otodental syndrome";"2791";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inhalational botulism";"254504";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Endosteal hyperostosis, Worth type";"2790";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Iatrogenic botulism";"254509";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Annular atrophic lichen planus";"254411";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Annular lichen planus";"254424";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant osteopetrosis type 1";"2783";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome";"2787";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atrophic lichen planus";"254449";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 11";"262092";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteoporosis-oculocutaneous hypopigmentation syndrome";"2786";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lichen planus pigmentosus";"254463";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare cutaneous lichen planus";"254370";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteopathia striata-cranial sclerosis syndrome";"2780";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare mucosal lichen planus";"254373";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteopathia striata-pigmentary dermopathy-white forelock syndrome";"2779";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Linear lichen planus";"254379";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Actinic lichen planus";"254395";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic paraparesis-deafness syndrome";"2815";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA";"254767";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies";"254758";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial DNA-related mitochondrial myopathy";"254788";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic paraplegia-glaucoma-intellectual disability syndrome";"2818";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA";"254776";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laryngeal abductor paralysis";"2808";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial recurrent peripheral facial palsy";"2809";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tricarboxylic acid cycle disorder";"254749";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Parana hard skin syndrome";"2812";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyruvate metabolism disorder";"254746";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial pancreatic agenesis";"2805";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epithelioid trophoblastic tumor";"254698";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial hydatidiform mole";"254693";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Papilloma of choroid plexus";"2807";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive chorioretinopathy-microcephaly syndrome";"2518";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pontocerebellar hypoplasia type 2";"2524";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-brain defect-spasticity-hypernatremia syndrome";"2523";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-cervical spine fusion anomalies syndrome";"2522";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-lymphedema-chorioretinopathy syndrome";"2526";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-microcornea syndrome, Seemanova type";"2528";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-deafness-intellectual disability syndrome";"2533";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of chromosome 3";"261875";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of chromosome 6";"261902";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcornea-glaucoma-absent frontal sinuses syndrome";"2536";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of chromosome 5";"261893";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of chromosome 8";"261920";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of chromosome 7";"261911";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of chromosome 10";"261938";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of chromosome 9";"261929";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of chromosome 16";"261956";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of chromosome 11";"261947";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of chromosome 17";"261965";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculoauriculovertebral spectrum with radial defects";"2549";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of chromosome 18";"261974";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of chromosome 19";"261983";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microspherophakia-metaphyseal dysplasia syndrome";"2551";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of chromosome 20";"261992";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 1";"262001";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ear-patella-short stature syndrome";"2554";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 2";"262010";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 3";"262019";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microphthalmia with linear skin defects syndrome";"2556";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 4";"262029";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 5";"262038";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mikati-Najjar-Sahli syndrome";"2558";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 6";"262047";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mietens syndrome";"2557";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyramidal molars-abnormal upper lip syndrome";"2561";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 7";"262056";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 8";"262065";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome";"2560";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tetramelic monodactyly";"2564";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 9";"262074";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 10";"262083";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MOMO syndrome";"2563";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome 13";"262101";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mononen-Karnes-Senac syndrome";"2565";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Moynahan syndrome";"2574";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic ataxia-corneal dystrophy syndrome";"2572";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Moyamoya disease";"2573";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome";"2570";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked immunoneurologic disorder";"2571";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "15q11.2 microdeletion syndrome";"261183";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ataxia-pancytopenia syndrome";"2585";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "FOXG1 syndrome due to 14q12 microdeletion";"261144";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal 22q11.2 microdeletion syndrome";"261330";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "21q22.11q22.12 microdeletion syndrome";"261323";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paternal uniparental disomy of chromosome X";"261524";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maternal uniparental disomy of chromosome X";"261519";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "49,XXXYY syndrome";"261534";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome Y syndrome";"261529";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kleefstra syndrome";"261494";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Xq27.3q28 duplication syndrome";"261483";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical Norrie disease due to Xp11.3 microdeletion";"261501";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial adenomatous polyposis due to 5q22.2 microdeletion";"261584";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alagille syndrome due to 20p12 microdeletion";"261600";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alagille syndrome due to a JAG1 point mutation";"261619";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mowat-Wilson syndrome due to monosomy 2q22";"261537";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mowat-Wilson syndrome due to a ZEB2 point mutation";"261552";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alagille syndrome due to a NOTCH2 point mutation";"261629";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Okihiro syndrome due to 20q13 microdeletion";"261638";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Okihiro syndrome due to a point mutation";"261647";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kleefstra syndrome due to a point mutation";"261652";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "14q22q23 microdeletion syndrome";"264200";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Uniparental disomy of chromosome X";"263793";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome X";"263783";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the short arm of chromosome X";"263775";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of chromosome X";"263768";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome";"3055";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the long arm of chromosome X";"263756";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X and Y chromosomal anomaly";"263749";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Y chromosome number anomaly";"263746";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-seizures-psoriasis syndrome";"3052";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of the short arm of the chromosome X";"263731";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome X";"263726";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blepharophimosis-intellectual disability syndrome, SBBYS type";"3047";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polysomy of X chromosome";"263723";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X chromosome number anomaly with male phenotype";"263720";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome";"3044";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X chromosome number anomaly";"263714";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome";"3042";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X chromosome number anomaly with female phenotype";"263717";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-balding-patella luxation-acromicria syndrome";"3041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complex chromosomal rearrangement";"263708";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome";"3038";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "NK-cell enteropathy";"263665";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Delayed membranous cranial ossification";"3034";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal tubular dysgenesis";"3033";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "NPHP3-related Meckel-like syndrome";"3032";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "COG5-CDG";"263487";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperinsulinism due to INSR deficiency";"263458";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital hyperinsulinism due to HNF4A deficiency";"263455";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome";"3018";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ramon syndrome";"3019";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CHST3-related skeletal dysplasia";"263463";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nevus of Ito";"263432";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nevus of Ota";"263425";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Radio-renal syndrome";"3015";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuroacanthocytosis";"263440";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital smooth muscle hamartoma";"263435";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Absent radius-anogenital anomalies syndrome";"3016";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Robinow syndrome";"3107";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome";"263410";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qazi-Markouizos syndrome";"3010";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome";"3011";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Angiosarcoma";"263413";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyknoachondrogenesis";"3003";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Moderately-differentiated thymic neuroendocrine carcinoma";"263335";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Poorly differentiated thymic neuroendocrine carcinoma";"263339";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyle disease";"3005";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MRCS syndrome";"263347";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Postcardiotomy right ventricular failure";"263352";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mirror polydactyly-vertebral segmentation-limbs defects syndrome";"3004";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thymoma type A";"263310";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ptosis-vocal cord paralysis syndrome";"2997";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thymoma type B";"263317";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thymoma type AB";"263324";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ptosis-strabismus-ectopic pupils syndrome";"2999";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Well-differentiated thymic neuroendocrine carcinoma";"263331";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive multiple pterygium syndrome";"2990";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency";"263297";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 1";"98755";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 2";"98756";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 3";"98757";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 6";"98758";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15";"98754";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cathepsin A-related arteriopathy-strokes-leukoencephalopathy";"575553";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic hemolytic uremic syndrome";"576742";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Iatrogenic Creutzfeldt-Jakob disease";"576379";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sporadic human prion disease";"576356";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "NLRC4-related familial cold autoinflammatory syndrome";"576349";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Variant Creutzfeldt-Jakob disease";"576370";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired human prion disease";"576360";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intermediate atrioventricular septal defect";"576242";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SATB2-associated syndrome due to a pathogenic variant";"576283";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SATB2-associated syndrome";"576278";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pheochromocytoma-paraganglioma";"573163";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metabolic myopathy";"98486";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare coagulation disorder";"98429";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polycythemia";"98427";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary polycythemia";"98428";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary combined deficiency of vitamin K-dependent clotting factors";"98434";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-micromelia syndrome";"572768";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic pontocerebellar hypoplasia";"98523";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Posterior fossa malformation";"98519";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurodegenerative disease with dementia";"98534";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Late-onset ataxia with dementia";"98540";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset ataxia with dementia";"98539";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome";"572013";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infectious disease with dementia";"98542";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Frontotemporal degeneration with dementia";"98535";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ataxia with dementia";"98538";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blepharophimosis-ptosis-epicanthus inversus syndrome plus";"572333";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blepharophimosis-ptosis-epicanthus inversus syndrome type 1";"572354";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare cerebrovascular dementia";"98549";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebral lipidosis with dementia";"98544";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metabolic disease with dementia";"98543";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infective endocarditis";"570762";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudoprogeria syndrome";"2985";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial pterygium of the conjunctiva";"2989";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pterygium colli-intellectual disability-digital anomalies syndrome";"2988";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 20";"262995";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 19";"262986";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 18";"262977";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 17";"262968";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 22";"263004";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 11";"262923";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 10";"262914";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 9";"262905";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 8";"262896";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 16";"262959";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 15";"262950";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 14";"262941";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 13";"262932";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 2";"262842";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 3";"262851";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 1";"262833";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 6";"262878";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 7";"262887";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 4";"262860";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the long arm of chromosome 5";"262869";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication/triplication of the short arm of chromosome 9";"262767";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the short arm of chromosome 10";"262776";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rothmund-Thomson syndrome";"2909";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the short arm of chromosome 7";"262749";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the short arm of chromosome 8";"262758";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the short arm of chromosome 17";"262803";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication/triplication of the short arm of chromosome 18";"262812";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Roussy-Lévy syndrome";"3115";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the short arm of chromosome 11";"262785";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the short arm of chromosome 16";"262794";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Richieri Costa-da Silva syndrome";"3101";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of chromosome 19";"262687";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Richieri Costa-Pereira syndrome";"3102";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication/triplication of chromosome 18";"262682";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Robin sequence-oligodactyly syndrome";"3104";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the short arm of chromosome 2";"262698";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of chromosome 20";"262692";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the short arm of chromosome 4";"262716";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the short arm of chromosome 3";"262707";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Postorgasmic illness syndrome";"279947";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the short arm of chromosome 6";"262740";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication/triplication of the short arm of chromosome 5";"262725";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mayer-Rokitansky-Küster-Hauser syndrome";"3109";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication/triplication of chromosome 9";"262643";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability, Buenos-Aires type";"3079";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Snyder type";"3063";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-myopathy-short stature-endocrine defect syndrome";"3068";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myelocystocele";"268813";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated posterior meningocele";"268810";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pfeiffer-Palm-Teller syndrome";"2871";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cardiocranial syndrome, Pfeiffer type";"2872";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature, Brussels type";"2867";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature-valvular heart disease-characteristic facies syndrome";"2868";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neural tube closure defect";"268357";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary thrombocytopenia with normal platelets";"268322";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive intermediate Charcot-Marie-Tooth disease";"268337";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Open iniencephaly";"268363";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Closed iniencephaly";"268366";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Open spinal dysraphism";"268369";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Woodhouse-Sakati syndrome";"3464";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "RAS-associated autoimmune leukoproliferative disease";"268114";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intraocular medulloepithelioma";"268139";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spheroid body myopathy";"268129";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion";"268261";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mycophenolate mofetil embryopathy";"268249";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complication in hemodialysis";"268316";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intermediate maple syrup urine disease";"268162";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Absent thumb-short stature-immunodeficiency syndrome";"2951";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Triphalangeal thumbs-brachyectrodactyly syndrome";"2947";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adducted thumbs-arthrogryposis syndrome, Christian type";"2952";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progeria-short stature-pigmented nevi syndrome";"2959";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Guttmacher syndrome";"2957";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome";"2958";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated polycystic liver disease";"2924";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary interstitial lung disease specific to childhood associated with a connective tissue disease";"264704";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Digital extensor muscle aplasia-polyneuropathy";"2926";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis";"264709";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary interstitial lung disease specific to childhood associated with a granulomatous disease";"264714";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome";"2928";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary interstitial lung disease specific to childhood associated with a metabolic disease";"264719";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cronkhite-Canada syndrome";"2930";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Interstitial lung disease specific to adulthood";"264735";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary interstitial lung disease specific to adulthood";"264740";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Crossed polysyndactyly";"2935";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary interstitial lung disease specific to adulthood associated with a systemic disease";"264745";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polysyndactyly-cardiac malformation syndrome";"2934";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Interstitial lung disease in childhood and adulthood";"264757";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary interstitial lung disease in childhood and adulthood";"264762";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder";"264930";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Porencephaly-cerebellar hypoplasia-internal malformations syndrome";"2941";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder";"264935";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary interstitial lung disease in childhood and adulthood";"264944";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Porencephaly";"2940";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pitt-Hopkins syndrome";"2896";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachyolmia-amelogenesis imperfecta syndrome";"2899";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leri pleonosteosis";"2900";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the short arm of chromosome 1";"264431";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "POEMS syndrome";"2905";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trisomy 8p";"264450";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary acrokeratotic poikiloderma";"2907";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Poland syndrome";"2911";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to liver phosphorylase kinase deficiency";"264580";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Interstitial lung disease specific to childhood";"264656";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Postaxial polydactyly-dental and vertebral anomalies syndrome";"2916";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary interstitial lung disease specific to childhood due to alveolar structure disorder";"264670";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polydactyly-myopia syndrome";"2917";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary interstitial lung disease specific to childhood";"264665";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary interstitial lung disease specific to childhood due to alveolar vascular disorder";"264683";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Orofaciodigital syndrome type 5";"2919";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary pulmonary alveolar proteinosis";"264675";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oliver syndrome";"2920";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated pulmonary capillaritis";"264691";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Preaxial polydactyly-colobomata-intellectual disability syndrome";"2921";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital chylothorax";"264688";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary arterial hypertension associated with congenital heart disease";"275803";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary arterial hypertension associated with HIV infection";"275808";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary arterial hypertension associated with portal hypertension";"275813";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary arterial hypertension associated with schistosomiasis";"275823";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trigonocephaly-bifid nose-acral anomalies syndrome";"3368";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Heritable pulmonary arterial hypertension";"275777";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Drug- or toxin-induced pulmonary arterial hypertension";"275786";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary arterial hypertension associated with another disease";"275791";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trigonocephaly-short stature-developmental delay syndrome";"3369";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary arterial hypertension associated with connective tissue disease";"275798";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome";"3363";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beta-thalassemia and related diseases";"275749";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sickle cell disease and related diseases";"275752";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lysosomal acid lipase deficiency";"275761";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic metopic craniosynostosis";"3366";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trigonocephaly-broad thumbs syndrome";"3365";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic pulmonary arterial hypertension";"275766";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hemorrhagic disorder due to a constitutional thrombocytopenia";"275729";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hemorrhagic disorder due to a qualitative platelet defect";"275736";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trichodysplasia-xeroderma syndrome";"3361";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic infertility";"275742";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-thalassemia and related disorders";"275745";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated anterior cervical hypertrichosis";"3387";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neural tube defect";"3388";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemolytic disease due to fetomaternal alloimmunization";"275938";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary hypertension owing to lung disease and/or hypoxia";"275837";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary arterial hypertension associated with chronic hemolytic anemia";"275828";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome with pulmonary hypertension as a major feature";"275853";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary hypertension with unclear multifactorial mechanism";"275844";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic cardiac tumor";"271841";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic soft tissue tumor";"271832";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic digestive tract tumor";"271835";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tibial aplasia-ectrodactyly syndrome";"3329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Absent tibia-polydactyly-arachnoid cyst syndrome";"3328";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thyrocerebrorenal syndrome";"3327";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thymic-renal-anal-lung dysplasia";"3326";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hoyeraal-Hreidarsson syndrome";"3322";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thoracolaryngopelvic dysplasia";"3317";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thiemann disease, familial form";"3314";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trichoodontoonychial dysplasia";"3355";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Preeclampsia";"275555";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trichodermodysplasia-dental alterations syndrome";"3353";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dianzani autoimmune lymphoproliferative disease";"275523";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trichodental syndrome";"3351";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune lymphoproliferative syndrome with recurrent viral infections";"275517";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tricho-dento-osseous syndrome";"3352";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tremor-nystagmus-duodenal ulcer syndrome";"3350";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Weismann-Netter syndrome";"3344";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mounier-Kühn syndrome";"3347";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome";"3341";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic systemic or rheumatologic disease";"271870";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arterial tortuosity syndrome";"3342";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Toriello-Lacassie-Droste syndrome";"3339";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary ATTR amyloidosis";"271861";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic cardiac anomaly";"271853";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic neuroendocrine tumor";"271847";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Toriello-Carey syndrome";"3338";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic urogenital tumor";"271844";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic syndrome with a cerebellar malformation as a major feature";"269567";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic syndrome with a Dandy-Walker malformation as a major feature";"269570";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature";"269573";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Young syndrome";"3471";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital amegakaryocytic thrombocytopenia";"3319";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Zimmermann-Laband syndrome";"3473";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wilson-Turner syndrome";"3459";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Other syndrome with a central nervous system malformation as a major feature";"269531";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome with a Dandy-Walker malformation as a major feature";"269546";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic non-syndromic central nervous system malformation";"269550";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic cerebral malformation";"269553";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic posterior fossa malformation";"269557";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "WT limb-blood syndrome";"3466";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic cerebellar malformation";"269560";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Worster-Drought syndrome";"3465";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic syndrome with a central nervous system malformation as a major feature";"269564";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sweet syndrome";"3243";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Velo-facial-skeletal syndrome";"3424";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-brachydactyly-kyphoscoliosis syndrome";"3433";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Verloove Vanhorick-Brubakk syndrome";"3429";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperostosis corticalis generalisata";"3416";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-developmental delay-contractures syndrome";"3454";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune pancreatitis type 2";"280315";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune pancreatitis type 1";"280302";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-dystroglycan-related limb-girdle muscular dystrophy R16";"280333";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal deletion 12p";"280325";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation";"280293";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation";"280288";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare pediatric vasculitis";"280369";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal semi-dominant severe lipodystrophic laminopathy";"280365";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Erythropoietic uroporphyria associated with myeloid malignancy";"280379";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare pediatric systemic disease";"280373";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare systemic or rheumatological disease of childhood";"280342";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PLIN1-related familial partial lipodystrophy";"280356";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deaf blind hypopigmentation syndrome, Yemenite type";"3214";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inherited human prion disease";"280400";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial omphalocele syndrome with facial dysmorphism";"280403";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial steroid-resistant nephrotic syndrome with sensorineural deafness";"280406";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Summitt syndrome";"3210";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome";"3201";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome";"280384";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial Alzheimer-like prion disease";"280397";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nestor-Guillermo progeria syndrome";"280576";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deafness-enamel hypoplasia-nail defects syndrome";"3220";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fountain syndrome";"3219";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Phosphoribosylpyrophosphate synthetase superactivity";"3222";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chondrodysplasia with joint dislocations, gPAPP type";"280586";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deafness-small bowel diverticulosis-neuropathy syndrome";"3217";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fatal infantile hypertonic myofibrillar myopathy";"280553";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Warsaw breakage syndrome";"280558";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Conductive deafness-malformed external ear syndrome";"3216";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deafness-epiphyseal dysplasia-short stature syndrome";"3218";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Calciphylaxis cutis";"280065";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Calciphylaxis";"280062";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency";"279934";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paraneoplastic uveitis";"279928";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infectious panuveitis";"279925";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infectious anterior uveitis";"279922";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe combined immunodeficiency due to LCK deficiency";"280142";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Omphalocele syndrome, Shprintzen-Goldberg type";"3164";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sillence syndrome";"3168";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complement component 3 deficiency";"280133";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SHORT syndrome";"3163";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Senior-Loken syndrome";"3156";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ALG11-CDG";"280071";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Visceral calciphylaxis";"280068";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Septo-optic dysplasia spectrum";"3157";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondylocamptodactyly syndrome";"3180";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pelizaeus-Merzbacher disease, connatal form";"280210";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pelizaeus-Merzbacher disease, classic form";"280219";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microform holoprosencephaly";"280200";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar degeneration-corneal dystrophy syndrome";"3177";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laryngotracheoesophageal cleft type 0";"280205";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked spasticity-intellectual disability-epilepsy syndrome";"3175";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Septopreoptic holoprosencephaly";"280195";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Eyebrow duplication-syndactyly syndrome";"3172";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "NMDA receptor encephalitis";"217253";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methylmalonic aciduria due to transcobalamin receptor defect";"280183";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pelizaeus-Merzbacher-like disease due to GJC2 mutation";"280282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pelizaeus-Merzbacher-like disease";"280270";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Null syndrome";"280234";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deafness-vitiligo-achalasia syndrome";"3239";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cardiospondylocarpofacial syndrome";"3238";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple synostoses syndrome";"3237";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Symphalangism with multiple anomalies of hands and feet";"3246";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renpenning syndrome";"3242";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proximal symphalangism";"3250";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal symphalangism";"3248";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypnic headache";"276429";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hyperinsulinism";"276525";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Filippi syndrome";"3255";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperinsulinism due to UCP2 deficiency";"276556";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft lip/palate-ectodermal dysplasia syndrome";"3253";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lower motor neuron syndrome with late-adult onset";"276435";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Heparin-induced thrombocytopenia";"3325";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary methemoglobinemia";"621";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysbetalipoproteinemia";"412";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe hereditary thrombophilia due to congenital protein S deficiency";"743";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hyperthyroidism due to mutations in TSH receptor";"424";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital factor II deficiency";"325";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperimmunoglobulinemia D with periodic fever";"343";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial thrombomodulin anomalies";"3324";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Succinyl-CoA:3-oxoacid CoA transferase deficiency";"832";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemolytic anemia due to diphosphoglycerate mutase deficiency";"714";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant germ cell tumor of the vagina";"206489";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vulvovaginal rhabdomyosarcoma";"206492";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bulbospinal muscular atrophy";"206701";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inclusion myopathy";"206662";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Generalized bulbospinal muscular atrophy";"206710";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bulbospinal muscular atrophy of adult";"206707";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bulbospinal muscular atrophy of childhood";"206704";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial myopathy";"206966";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Muscular glycogenosis";"206959";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked non-syndromic intellectual disability";"777";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Muscular lipidosis";"206953";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemolytic anemia due to red cell pyruvate kinase deficiency";"766";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Periodic paralysis";"206976";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital myotonia";"206973";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myotonic syndrome";"206970";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Subacute inflammatory demyelinating polyneuropathy";"206594";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated asymptomatic elevation of creatine phosphokinase";"206599";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult polyglucosan body disease";"206583";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurolymphomatosis";"206586";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infectious disease with peripheral neuropathy";"206613";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired skeletal muscle disease";"206638";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive muscular dystrophy";"206644";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic skeletal muscle disease";"206634";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive distal myopathy";"206653";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-dystrophic myopathy";"206656";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myotonic dystrophy";"206647";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant distal myopathy";"206650";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of dystrophin";"207085";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of collagen 6";"207090";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laminin subunit alpha 2-related muscular dystrophy";"207094";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of integrin alpha-7";"207098";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of gamma-sarcoglycan";"207067";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of delta-sarcoglycan";"207070";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of dysferlin";"207073";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of caveolin-3";"207078";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative protein defects in neuromuscular diseases";"207049";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of sarcoglycan";"207052";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of alpha-sarcoglycan";"207060";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of beta-sarcoglycan";"207063";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute and subacute inflammatory demyelinating polyneuropathy";"207038";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant lymphoma with peripheral neuropathy";"207046";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hereditary systemic disease with peripheral neuropathy";"207021";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hereditary metabolic disease with peripheral neuropathy";"207018";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebellar ataxia with peripheral neuropathy";"207028";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hereditary neurologic disease with peripheral neuropathy";"207025";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hereditary disease with peripheral neuropathy";"207015";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinal muscular atrophy associated with central nervous system anomaly";"207012";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Parasitic myositis";"206997";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bacterial myositis";"206994";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fungal myositis";"207000";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant cerebellar ataxia type II";"208508";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bilateral generalized polymicrogyria";"208447";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bilateral frontal polymicrogyria";"208444";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bilateral parasagittal parieto-occipital polymicrogyria";"208441";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of fukutin";"207122";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of FKRP";"207119";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan";"207113";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of myotubularin";"207110";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of TRIM32";"207107";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of calpain";"207104";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of perlecan";"207101";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant adult-onset proximal spinal muscular atrophy";"209335";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy";"209341";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)";"209185";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of emerin";"209188";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of selenoprotein N1";"209193";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of plectin";"209196";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of protein SERCA1";"209199";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -";"209203";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myotilinopathy";"209224";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of alphaB-cristallin";"209044";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of desmin";"209041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of protein ZASP";"209050";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of filamin C";"209047";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of telethonin";"209056";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of titin";"209053";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of nebulin";"209182";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of alpha-actin";"209059";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hematological disease associated with an acquired peripheral neuropathy";"209016";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired amyloid peripheral neuropathy";"209013";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glutathione synthetase deficiency without 5-oxoprolinuria";"289849";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase";"209024";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Solid tumor associated with an acquired peripheral neuropathy";"209019";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of protein O-mannosyltransferase 1";"209030";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of protein glycosyltransferase-like";"209027";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of myofibrillar proteins";"209038";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of protein O-mannosyltransferase 2";"209033";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intermediate osteopetrosis";"210110";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sterile multifocal osteomyelitis with periostitis and pustulosis";"210115";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IRIDA syndrome";"209981";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-papillary transitional cell carcinoma of the bladder";"209989";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome";"210133";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome";"210136";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital alveolar capillary dysplasia";"210122";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Urocanic aciduria";"210128";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Phacoanaphylactic uveitis";"209959";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Solitary rectal ulcer syndrome";"209964";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal spastic paraplegia type 18";"209951";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic uveal effusion syndrome";"209956";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign nocturnal alternating hemiplegia of childhood";"209973";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alternating hemiplegia";"209978";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Episodic ataxia type 6";"209967";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Episodic ataxia type 7";"209970";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated childhood apraxia of speech";"209908";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spindle cell hemangioma";"210584";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile hemangioma of rare localization";"210589";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital temporomandibular joint ankylosis";"210576";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Temporomandibular joint anomaly";"210581";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic vascular anomaly";"211240";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare vascular tumor";"211237";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Episodic ataxia type 5";"211067";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary episodic ataxia";"211062";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Specific language disorder";"211053";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Specific learning disability";"211047";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant proximal spinal muscular atrophy";"211037";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 30";"211017";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complex vascular malformation with associated anomalies";"211277";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare arteriovenous malformation";"211266";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare lymphatic system anomaly";"211255";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare venous malformation";"211252";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare capillary malformation";"211247";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Simple vascular malformation";"211243";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial DNA-related progressive external ophthalmoplegia";"663";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency";"5";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital dyserythropoietic anemia";"85";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glutaryl-CoA dehydrogenase deficiency";"25";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rhizomelic chondrodysplasia punctata";"177";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ovarian cancer";"213500";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant mixed Müllerian tumor of the ovary";"213512";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenocarcinoma of ovary";"213504";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cartilage-hair hypoplasia";"175";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cutis laxa";"209";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Medium chain acyl-CoA dehydrogenase deficiency";"42";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare uterine cancer";"213564";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Salivary gland type cancer of the breast";"213557";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare cancer of corpus uteri";"213569";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bifunctional enzyme deficiency";"300";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metaplastic carcinoma of the breast";"213531";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare adenocarcinoma of the breast";"213528";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carcinofibroma of the corpus uteri";"213605";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carcinosarcoma of the corpus uteri";"213610";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant mixed epithelial and mesenchymal tumor of corpus uteri";"213589";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenosarcoma of the corpus uteri";"213600";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leiomyosarcoma of the corpus uteri";"213625";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Scimitar syndrome";"185";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primitive neuroectodermal tumor of the corpus uteri";"213630";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rhabdomyosarcoma of the corpus uteri";"213615";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sarcoma of the corpus uteri";"213620";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Undifferentiated carcinoma of the corpus uteri";"213721";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenitally uncorrected transposition of the great arteries";"216718";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenitally uncorrected transposition of the great arteries with cardiac malformation";"216729";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteogenesis imperfecta type 1";"216796";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteogenesis imperfecta type 2";"216804";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteogenesis imperfecta type 3";"216812";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteogenesis imperfecta type 4";"216820";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteogenesis imperfecta type 5";"216828";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic pantothenate kinase-associated neurodegeneration";"216866";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical pantothenate kinase-associated neurodegeneration";"216873";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Niemann-Pick disease type C, severe perinatal form";"216972";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Niemann-Pick disease type C, late infantile neurologic onset";"216978";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Niemann-Pick disease type C, severe early infantile neurologic onset";"216975";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Niemann-Pick disease type C, adult neurologic onset";"216986";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Niemann-Pick disease type C, juvenile neurologic onset";"216981";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Zechi-Ceide syndrome";"217017";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 31";"217012";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type";"217026";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "BNAR syndrome";"217266";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive multifocal leukoencephalopathy";"217260";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polyarteritis nodosa";"767";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucopolysaccharidosis type 2, attenuated form";"217093";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucopolysaccharidosis type 2, severe form";"217085";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary fungal infections in patients deemed at risk";"217080";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare carcinoma of pancreas";"217074";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal cell carcinoma";"217071";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pouchitis";"217067";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "5-fluorouracil poisoning";"217064";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital digital clubbing";"217059";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A";"217055";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "RIN2 syndrome";"217335";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "17q21.31 microduplication syndrome";"217340";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "REN-related autosomal dominant tubulointerstitial kidney disease";"217330";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital microcoria";"566";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Viral hemorrhagic fever";"341";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemorrhagic fever-renal syndrome";"340";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion";"352665";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F";"352670";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked Charcot-Marie-Tooth disease type 6";"352675";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cobblestone lissencephaly without muscular or ocular involvement";"352682";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rubinstein-Taybi syndrome due to CREBBP mutations";"353277";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Burning mouth syndrome";"353253";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial primary localized cutaneous amyloidosis";"353220";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epileptic encephalopathy with global cerebral demyelination";"353217";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Scleredema";"352763";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculocutaneous albinism type 7";"352745";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vasoproliferative tumor of the retina";"353356";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic macular telangiectasia type 1";"353344";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic macular telangiectasia type 3";"353351";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital joint dislocations";"294951";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Joint formation defects";"294949";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome with limb reduction defects";"294955";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non syndromic limb overgrowth";"294953";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital deformities of fingers";"294947";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital deformities of limbs";"294944";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amelia";"294925";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intercalary limb defects";"294927";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal-hepatic-pancreatic dysplasia";"294415";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic intestinal failure";"294422";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare nevus";"294057";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple pterygium syndrome";"294060";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome";"293987";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-capillary malformation syndrome";"294016";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal inflammatory skin and bowel disease";"294023";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndactyly-nystagmus syndrome due to 2q31.1 microduplication";"294026";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypoinsulinemic hypoglycemia and body hemihypertrophy";"293964";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of lysine and hydroxylysine metabolism";"289832";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome";"293967";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deficiency in anterior pituitary function-variable immunodeficiency syndrome";"293978";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypertelorism-preauricular sinus-punctual pits-deafness syndrome";"293958";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Childhood encephalopathy due to thiamine pyrophosphokinase deficiency";"293955";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "1p21.3 microdeletion syndrome";"293948";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal Xq28 microduplication syndrome";"293939";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "EDICT syndrome";"293936";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal occipital encephalocele-skeletal dysplasia syndrome";"293925";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial isolated arrhythmogenic ventricular dysplasia, right dominant form";"293910";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial isolated arrhythmogenic ventricular dysplasia, biventricular form";"293899";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial isolated arrhythmogenic ventricular dysplasia, left dominant form";"293888";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome";"293864";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3MC syndrome";"293843";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Constitutional dyserythropoietic anemia";"293830";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MITF-related melanoma and renal cell carcinoma predisposition syndrome";"293822";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Antiphospholipid syndrome";"80";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital dyserythropoietic anemia type IV";"293825";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fixed drug eruption";"293812";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Toxic dermatosis";"293815";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ketamine-induced biliary dilatation";"293807";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blepharophimosis-intellectual disability syndrome, Verloes type";"293725";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blepharophimosis-intellectual disability syndrome";"293642";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blepharophimosis-intellectual disability syndrome, MKB type";"293707";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PYCR1-related De Barsy syndrome";"293633";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrodactyly of fingers";"295044";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrodactyly of toes";"295047";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Upper limb hypertrophy";"295049";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lower limb hypertrophy";"295051";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pseudoarthrosis of the fibula";"295022";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pseudoarthrosis of the radius";"295024";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pseudoarthrosis of the ulna";"295026";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tibio-fibular synostosis";"295028";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "True congenital shoulder dislocation";"295030";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated congenital radial head dislocation";"295032";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital knee dislocation";"295034";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital patella dislocation";"295036";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndactyly type 6";"295012";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pseudoarthrosis of the femur";"295020";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pseudoarthrosis of the tibia";"295018";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Camptodactyly of fingers";"295016";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial isolated clinodactyly of fingers";"295014";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Central polydactyly";"295004";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperphalangy";"295002";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Constriction rings syndrome";"295000";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital absence of thigh and lower leg with foot present";"294977";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital absence of both forearm and hand";"294979";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Humeral agenesis/hypoplasia";"294973";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital absence of upper arm and forearm with hand present";"294975";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Apodia";"294986";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital hypoplasia of thumb";"294988";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital absence of both lower leg and foot";"294981";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acheiria";"294983";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Popliteal pterygium syndrome";"294963";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysostosis with combined reduction defects of upper and lower limbs";"294957";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy";"294959";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amelia of lower limb";"294969";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tetra-amelia";"294971";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal congenital contracture syndrome";"294965";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amelia of upper limb";"294967";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoinflammatory syndrome with skin involvement";"290842";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare head and neck tumor";"290849";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical glycine encephalopathy";"289863";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphoepithelial-like carcinoma";"289682";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myopericytoma";"289685";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly";"289661";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Plasmablastic lymphoma";"289666";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epstein-Barr Virus-associated carcinoma";"289651";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epstein-Barr Virus-associated mesenchymal tumor";"289656";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Late-onset primary lymphedema without systemic or visceral involvement";"289825";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of tryptophan metabolism";"289829";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple mitochondrial dysfunctions syndrome";"289573";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial membrane protein-associated neurodegeneration";"289560";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysmorphism-conductive hearing loss-heart defect syndrome";"289553";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency";"289548";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "BAP1-related tumor predisposition syndrome";"289539";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare virus associated tumor";"289635";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary arterial and articular multiple calcification syndrome";"289601";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile nasopharyngeal angiofibroma";"289596";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Exfoliative ichthyosis";"289586";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial primary hyperparathyroidism";"2207";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Loiasis";"2404";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyruvate dehydrogenase E3 deficiency";"2394";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arachnoid cyst";"2356";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Reye syndrome";"3096";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult idiopathic neutropenia";"2688";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cyclic neutropenia";"2686";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hepatic veno-occlusive disease";"890";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dracunculiasis";"231";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphatic filariasis";"2035";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of folate metabolism and transport";"285657";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of troponin";"284786";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Qualitative or quantitative defects of tropomyosin";"284790";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ocular albinism";"284804";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CLIPPERS";"284448";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute zonal occult outer retinopathy";"284454";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute annular outer retinopathy";"284460";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycerol kinase deficiency, adult form";"284414";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Phosphoserine aminotransferase deficiency, infantile/juvenile form";"284417";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency";"284426";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency";"284435";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disease with thoracic aortic aneurysm and aortic dissection";"285014";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Marfan syndrome and Marfan-related disorders";"284993";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Marfan syndrome type 2";"284973";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Marfan syndrome type 1";"284963";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aneurysm-osteoarthritis syndrome";"284984";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal Marfan syndrome";"284979";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of phenylalanine metabolism";"284814";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic oculocutaneous albinism";"284811";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of tyrosine metabolism";"284818";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-central nervous system-localized embryonal carcinoma";"289362";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial vesicoureteral reflux";"289365";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infective dermatitis associated with HTLV-1";"289347";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary non-gestational choriocarcinoma of ovary";"289356";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset myopathy with fatal cardiomyopathy";"289377";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myosclerosis";"289380";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypermethioninemia encephalopathy due to adenosine kinase deficiency";"289290";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation";"289266";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Systemic diseases with anterior uveitis";"280926";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic posterior uveitis";"280917";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Panuveitis";"280898";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Posterior uveitis";"280892";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anterior uveitis";"280886";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Keratinopathic ichthyosis";"281103";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive congenital ichthyosis";"281097";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic recessive X-linked ichthyosis";"281090";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inherited ichthyosis syndromic form";"281085";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inherited non-syndromic ichthyosis";"281082";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Systemic diseases with panuveitis";"280933";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Systemic diseases with posterior uveitis";"280930";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked ichthyosis syndrome";"281210";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal ichthyosis syndrome";"281217";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital reticular ichthyosiform erythroderma";"281190";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome";"281201";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Annular epidermolytic ichthyosis";"281139";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Self-improving collodion baby";"281122";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acral self-healing collodion baby";"281127";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SMARCA4-deficient sarcoma of thorax";"466962";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal ichthyosis syndrome with prominent neurologic signs";"281238";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal ichthyosis syndrome with prominent hair abnormalities";"281222";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial progressive hyper- and hypopigmentation";"280628";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple congenital anomalies-hypotonia-seizures syndrome";"280633";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemoglobinopathy Toms River";"280615";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary sensorimotor neuropathy with hyperelastic skin";"280598";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive myoclonic epilepsy type 6";"280620";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Megaconial congenital muscular dystrophy";"280671";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Occipital pachygyria and polymicrogyria";"280640";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive nail dysplasia";"280654";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cutaneous collagenous vasculopathy";"280779";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bullous diffuse cutaneous mastocytosis";"280785";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudoxanthomatous diffuse cutaneous mastocytosis";"280794";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intralobar congenital pulmonary sequestration";"280802";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome";"280679";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe intellectual disability and progressive spastic paraplegia";"280763";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Generalized essential telangiectasia";"280774";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pulmonary airway malformation type 2";"280840";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pulmonary airway malformation type 3";"280847";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pulmonary airway malformation type 4";"280854";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extralobar congenital pulmonary sequestration";"280811";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Communicating congenital bronchopulmonary-foregut malformation";"280821";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pulmonary airway malformation type 0";"280827";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pulmonary airway malformation type 1";"280832";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pontocerebellar hypoplasia type 7";"284339";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial intrahepatic cholestasis";"284385";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Reversible cerebral vasoconstriction syndrome";"284388";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fetal lung interstitial tumor";"284362";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycerol kinase deficiency, juvenile form";"284411";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Well-differentiated fetal adenocarcinoma of the lung";"284395";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Small cell carcinoma of the bladder";"284400";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deletion of chromosome 12";"282124";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune polyendocrinopathy";"282196";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inherited Creutzfeldt-Jakob disease";"282166";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of copper metabolism";"309839";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired immunodeficiency";"310050";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome";"309854";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of manganese transport";"309851";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of metabolite absorption and transport";"309824";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of pterin metabolism";"309819";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of bilirubin metabolism and excretion";"309816";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of porphyrin and heme metabolism";"309813";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of mineral absorption and transport";"309836";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of other vitamins and cofactors metabolism and transport";"309833";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of peroxisomal alpha-, beta- and omega-oxidation";"309810";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rhizomelic chondrodysplasia punctata type 1";"309789";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rhizomelic chondrodysplasia punctata type 2";"309796";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of protein O-glycosylation";"309447";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of O-xylosylglycan synthesis";"309450";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of lysosomal-related organelles";"309340";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of protein N-glycosylation";"309347";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of O-mannosylglycan synthesis";"309469";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of fucoglycosan synthesis";"309505";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of O-N-acetylgalactosaminylglycan synthesis";"309458";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis";"309463";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "High bone mass osteogenesis imperfecta";"314029";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gastric adenocarcinoma and proximal polyposis of the stomach";"314022";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic linear interstitial keratitis";"314017";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome";"314002";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "2q23.1 microduplication syndrome";"313947";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PENS syndrome";"313936";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epstein-Barr virus-associated gastric carcinoma";"313920";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pancreatic cyst";"313906";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic dystonia";"391799";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome";"313846";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coats plus syndrome";"313838";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome";"313800";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia";"313808";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "20p13 microdeletion syndrome";"313781";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Jawad syndrome";"313795";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome";"313772";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic ataxia with leukoencephalopathy";"314603";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chudley-McCullough syndrome";"314597";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Growing teratoma syndrome";"314613";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome";"314575";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome";"314572";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal triplication 15q";"314588";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "15q overgrowth syndrome";"314585";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Young adult-onset distal hereditary motor neuropathy";"314485";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary progressive apraxia of speech";"314566";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudopelade of Brocq";"129";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome";"314555";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical Meigs syndrome";"314466";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudo-Meigs syndrome";"314459";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ovarian fibrothecoma";"314478";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ovarian fibroma";"314473";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ameloblastic carcinoma";"314422";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare odontogenic tumor";"314425";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spigelian hernia-cryptorchidism syndrome";"314432";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Meigs syndrome";"314451";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome";"314394";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant aplasia and myelodysplasia";"314399";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome";"314404";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ameloblastoma";"314419";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic infantile diarrhea due to guanylate cyclase 2C overactivity";"314373";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency";"314376";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary sensory and autonomic neuropathy type 6";"314381";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Xq12-q13.3 duplication syndrome";"314389";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "7p22.1 microduplication syndrome";"314034";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Marfanoid habitus-inguinal hernia-advanced bone age syndrome";"314041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome";"314051";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epilepsy and/or ataxia with myoclonus as a major feature";"306756";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non progressive epilepsy and/or ataxia with myoclonus as a major feature";"306759";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary myoclonus";"306750";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disease with myoclonus as a major feature";"306753";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare paroxysmal movement disorder";"306768";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperekplexia";"306773";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Motor stereotypies";"306765";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare parkinsonian syndrome due to genetic neurodegenerative disease";"307055";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Miscellaneous movement disorder due to genetic neurodegenerative disease";"307058";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sporadic hyperekplexia";"306776";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic parkinsonian disorder";"307052";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic disease with myoclonus as a major feature";"307067";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diffuse palmoplantar keratoderma";"307141";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic tremor disorder";"307061";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic myoclonus";"307064";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Manganese poisoning";"306682";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare parkinsonian syndrome due to intoxication";"306679";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Frontotemporal neurodegeneration with movement disorder";"306708";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Miscellaneous movement disorder due to neurodegenerative disease";"306695";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cyanide-induced parkinsonism-dystonia";"306692";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Delayed encephalopathy due to carbon monoxide poisoning";"306686";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Postinfectious autoimmune disease with chorea";"306727";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurodegenerative disease with chorea";"306719";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare choreic movement disorder";"306715";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare tremor disorder";"306712";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare myoclonus";"306747";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemidystonia-hemiatrophy syndrome";"306741";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary dystonia, DYT21 type";"306734";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A";"308386";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Punctate palmoplantar keratoderma";"307967";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disease with punctate palmoplantar keratoderma as a major feature";"308023";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Focal acral hyperkeratosis";"308013";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature";"308041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature";"308031";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of carbohydrate absorption and transport";"309001";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of lipid metabolism";"309005";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycerol kinase deficiency";"308993";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of glyoxylate metabolism";"308998";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form";"308698";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form";"308712";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form";"308670";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DYRK1A-related intellectual disability syndrome";"464306";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form";"308684";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined pancreatic lipase-colipase deficiency";"309111";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of fatty acid oxidation and ketogenesis";"309115";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pancreatic triacylglycerol lipase deficiency";"309031";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mevalonate kinase deficiency";"309025";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of lipid absorption and transport";"309028";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial lipoprotein lipase deficiency";"309015";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial apolipoprotein C-II deficiency";"309020";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Generalized galactose epimerase deficiency";"308487";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Erythrocyte galactose epimerase deficiency";"308473";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of galactose metabolism";"308467";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephalic osteodysplastic primordial dwarfism type II";"2637";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of fructose metabolism";"308463";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of glycolysis";"308459";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of neutral amino acid transport";"308451";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aminoacylase deficiency";"308448";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vitamin B12-responsive methylmalonic acidemia, type cblDv2";"308442";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form";"308655";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form";"308638";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form";"308621";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to acid maltase deficiency, infantile onset";"308552";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to glycogen synthase deficiency";"308520";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GM2 gangliosidosis, AB variant";"309246";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes";"309136";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyper-beta-alaninemia";"309147";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gangliosidosis";"309144";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3-hydroxyacyl-CoA dehydrogenase deficiency";"309127";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acyl-CoA dehydrogenase deficiency";"309120";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Synpolydactyly type 3";"295199";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metabolic disease due to other fatty acid oxidation disorder";"309133";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of carnitine cycle and carnitine transport";"309130";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tay-Sachs disease, B variant, juvenile form";"309185";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tay-Sachs disease, B variant, infantile form";"309178";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tay-Sachs disease, B variant, adult form";"309192";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sandhoff disease, infantile form";"309155";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GM2 gangliosidosis";"309152";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sandhoff disease, adult form";"309169";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sandhoff disease, juvenile form";"309162";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Follicular cholangitis and pancreatitis";"300552";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carcinoma of the ampulla of Vater";"300557";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined pulmonary fibrosis-emphysema syndrome";"300564";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation";"300570";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polymicrogyria due to TUBB2B mutation";"300573";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oligodontia-cancer predisposition syndrome";"300576";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Staphylococcal toxemia";"300579";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple congenital anomalies-hypotonia-seizures syndrome type 2";"300496";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transient infantile hypertriglyceridemia and hepatosteatosis";"300293";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Painful orbital and systemic neurofibromas-marfanoid habitus syndrome";"300501";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Onychocytic matricoma";"300504";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Onychomatricoma";"300512";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare nail tumor";"300515";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudohypoaldosteronism type 2D";"300525";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudohypoaldosteronism type 2E";"300530";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DDOST-CDG";"300536";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diffuse large B-cell lymphoma of the central nervous system";"300849";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aggressive B-cell non-Hodgkin lymphoma";"300846";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laminopathy with peripheral neuropathy";"300758";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Indolent B-cell non-Hodgkin lymphoma";"300842";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laminopathy with premature aging";"300766";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ALK-negative anaplastic large cell lymphoma";"300903";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Marginal zone lymphoma";"300912";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pituitary tumor";"304055";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies";"306431";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "FADD-related immunodeficiency";"306550";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myospherulosis";"306553";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kaposiform lymphangiomatosis";"464329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome";"306542";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Porencephaly-microcephaly-bilateral congenital cataract syndrome";"306547";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital hereditary facial paralysis-variable hearing loss syndrome";"306530";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated hereditary congenital facial paralysis";"306527";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis";"306516";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 48";"306511";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PTEN hamartoma tumor syndrome";"306498";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome";"306504";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare parkinsonian syndrome due to neurodegenerative disease";"306666";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome";"306661";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial normophosphatemic tumoral calcinosis";"306658";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-infectious anterior uveitis";"306648";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complication after organ transplantation";"306644";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare intoxication due to medical products";"306640";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare tumor of liver and intrahepatic biliary tract";"306636";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare tumor of gallbladder and extrahepatic biliary tract";"306633";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked complicated spastic paraplegia type 1";"306617";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sodium channelopathy-related small fiber neuropathy";"306577";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome";"306558";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Zygodactyly type 1";"295187";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Zygodactyly type 4";"295193";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Synpolydactyly type 1";"295195";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Zygodactyly type 2";"295189";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Zygodactyly type 3";"295191";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital vertical talus, unilateral";"295201";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital vertical talus, bilateral";"295203";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Synpolydactyly type 2";"295197";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Radio-ulnar synostosis, unilateral";"295217";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Radio-ulnar synostosis, bilateral";"295219";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Humero-ulnar synostosis, unilateral";"295213";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Humero-ulnar synostosis, bilateral";"295215";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital genu flexum";"295232";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital genu recurvatum";"295229";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital elbow dislocation, bilateral";"295227";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital elbow dislocation, unilateral";"295225";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrodactyly of fingers, bilateral";"295241";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrodactyly of fingers, unilateral";"295239";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrodactyly of toes, bilateral";"295245";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrodactyly of toes, unilateral";"295243";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of thiamine metabolism and transport";"298644";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency";"300179";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 2P";"300319";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Persistent polyclonal B-cell lymphocytosis";"300324";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital cataract-hearing loss-severe developmental delay syndrome";"300313";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe congenital hypochromic anemia with ringed sideroblasts";"300298";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "11p15.4 microduplication syndrome";"300305";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Connective tissue disorder due to lysyl hydroxylase-3 deficiency";"300284";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progeroid and marfanoid aspect-lipodystrophy syndrome";"300382";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal systemic lupus erythematosus";"300345";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PLCG2-associated antibody deficiency and immune dysregulation";"300359";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome";"300333";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fever-associated acute infantile liver failure syndrome";"464724";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Basel-Vanagaite-Smirin-Yosef syndrome";"464738";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial cavitary optic disc anomaly";"464760";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial gastric type 1 neuroendocrine tumor";"464756";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immune-mediated acquired neuromuscular junction disease";"464764";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Symptomatic form of HFE-related hemochromatosis";"465508";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic paraplegia-severe developmental delay-epilepsy syndrome";"464282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature-brachydactyly-obesity-global developmental delay syndrome";"464288";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3p25.3 microdeletion syndrome";"435638";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome";"464321";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Verrucous hemangioma";"464318";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability syndrome due to a DYRK1A point mutation";"464311";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "NEK9-related lethal skeletal dysplasia";"464366";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign metanephric tumor";"464359";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Catastrophic antiphospholipid syndrome";"464343";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "BENTA disease";"464336";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired methemoglobinemia";"464453";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "COG6-CGD";"464443";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary dystonia, DYT27 type";"464440";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal alloimmune neutropenia";"464370";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paracetamol poisoning";"464458";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Yellow nail syndrome";"662";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "1p35.2 microdeletion syndrome";"456298";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked myotubular myopathy-abnormal genitalia syndrome";"456328";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary neuroendocrine tumor of small intestine";"456333";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile multisystem neurologic-endocrine-pancreatic disease";"456312";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary sensory neuropathy-deafness-dementia syndrome";"456318";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "NTHL1-related attenuated familial adenomatous polyposis";"454840";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute radiation syndrome";"454831";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Avian influenza";"454836";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Corticobasal syndrome";"454887";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Variably protease-sensitive prionopathy";"454742";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Endometrioid carcinoma of ovary";"454723";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Holmes-Adie syndrome";"454718";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Plasma cell leukemia";"454714";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pleomorphic salivary gland adenoma";"454821";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated tracheoesophageal fistula";"454750";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kuru";"454745";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polyendocrine-polyneuropathy syndrome";"453533";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency";"453521";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anti-p200 pemphigoid";"454710";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive muscular atrophy";"454706";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired Creutzfeldt-Jakob disease";"454700";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary cutaneous plasmacytosis";"451602";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cutaneous pseudolymphoma";"451607";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial congenital nasolacrimal duct obstruction";"451612";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome";"453499";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation";"453504";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital insensitivity to pain with severe intellectual disability";"453510";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polyclonal hyperviscosity syndrome";"450322";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Eosinophilic angiocentric fibrosis";"449566";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IgG4-related ophthalmic disease";"449563";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Symptomatic form of fragile X syndrome in female carriers";"449291";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IgG4-related aortitis";"449400";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IgG4-related kidney disease";"449395";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IgG4-related submandibular gland disease";"449432";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IgG4-related pachymeningitis";"449427";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Scedosporiosis";"449280";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Snakebite envenomation";"449285";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pleural empyema";"449266";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic primary orthostatic hypotension";"448426";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary lateral sclerosis";"35689";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated focal non-epidermolytic palmoplantar keratoderma";"448264";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive autosomal recessive ataxia-deafness syndrome";"448251";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ectopia cordis";"448270";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Regressive spondylometaphyseal dysplasia";"448267";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CAD-CDG";"448010";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome";"447997";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive brachyolmia";"448242";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Zika virus disease";"448237";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive scapulohumeroperoneal distal myopathy";"447977";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome";"447974";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial duplication of the short arm of chromosome 19";"447985";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "19p13.3 microduplication syndrome";"447980";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 25";"447954";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2V";"447964";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome";"447961";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital abducens nerve palsy";"440233";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome";"459061";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 75";"459056";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Corpus callosum agenesis-macrocephaly-hypertelorism syndrome";"459074";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome";"459070";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic spontaneous coronary artery dissection";"458718";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Composite hemangioendothelioma";"458758";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retiform hemangioendothelioma";"458763";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary intralymphatic angioendothelioma";"458768";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital hemangioma";"458775";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partially involuting congenital hemangioma";"458785";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mixed cystic lymphatic malformation";"458792";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 41";"458798";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 42";"458803";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vascular tumor with associated anomalies";"458827";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare capillary malformation with associated anomalies";"458830";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome";"457485";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive myoclonic epilepsy type 9";"457265";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome";"457279";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-hypotonia-movement disorder syndrome";"457260";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-short stature-overweight syndrome";"457240";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Clear cell sarcoma of kidney";"457246";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome";"457395";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple mitochondrial dysfunctions syndrome type 4";"457406";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement";"457375";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complex lethal osteochondrodysplasia";"457378";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Megalencephaly-severe kyphoscoliosis-overgrowth syndrome";"457359";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome";"457365";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome";"457284";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome";"457351";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome";"457185";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated splenogonadal fusion";"457083";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TAFRO syndrome";"457077";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Actinomycosis";"457095";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Erythrokeratodermia variabilis";"317";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia";"632";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive hypohidrotic ectodermal dysplasia";"248";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vogt-Koyanagi-Harada disease";"3437";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic pulmonary fibrosis";"2032";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bronchiolitis obliterans with obstructive pulmonary disease";"1303";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic chronic eosinophilic pneumonia";"2902";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Occipital horn syndrome";"198";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maternally-inherited diabetes and deafness";"225";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation";"466950";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome";"466943";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Seizures-scoliosis-macrocephaly syndrome";"466926";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "VPS11-related autosomal recessive hypomyelinating leukodystrophy";"466934";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome";"466921";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-epilepsy-extrapyramidal syndrome";"468620";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephalic cortical malformations-short stature due to RTTN deficiency";"468631";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tubulinopathy-associated dysgyria";"467166";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome";"467176";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cryptogenic multifocal ulcerous stenosing enteritis";"468635";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic enteropathy associated with SLCO2A1 gene";"468641";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 74";"468661";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated generalized anhidrosis with normal sweat glands";"468666";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "White-Sutton syndrome";"468678";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CCDC115-CDG";"468684";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Colobomatous macrophthalmia-microcornea syndrome";"468672";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe primary trimethylaminuria";"468726";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SLC39A8-CDG";"468699";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rhizomelic chondrodysplasia punctata type 5";"468717";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 62";"401785";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 61";"401780";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 60";"401800";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 59";"401795";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proximal myopathy with extrapyramidal signs";"401768";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pancytopenia-developmental delay syndrome";"401764";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Optic atrophy-intellectual disability syndrome";"401777";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 69";"401830";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 70";"401835";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 71";"401840";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 63";"401805";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 64";"401810";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 66";"401815";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 67";"401820";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Childhood-onset spasticity with hyperglycinemia";"401866";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple mitochondrial dysfunctions syndrome type 1";"401869";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple mitochondrial dysfunctions syndrome type 2";"401874";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal spastic paraplegia type 72";"401849";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lipoic acid biosynthesis defect";"401854";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lipoic acid synthetase deficiency";"401859";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lipoyl transferase 1 deficiency";"401862";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic female infertility";"400008";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic disorder with obstructive azoospermia";"400003";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Male infertility due to obstructive azoospermia of genetic origin";"399998";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare male infertility due to adrenal disorder of genetic origin";"399994";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin";"399983";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic male infertility";"399980";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare female infertility due to an implantation defect";"399882";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare female infertility due to gonadal dysgenesis";"399877";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Female infertility due to an implantation defect of genetic origin";"400025";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare female infertility due to an anomaly of ovarian function of genetic origin";"400022";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare female infertility due to adrenal disorder of genetic origin";"400018";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin";"400011";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hepatitis delta";"402823";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fibrolamellar hepatocellular carcinoma";"401920";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Megakaryoblastic acute myeloid leukemia with t(1";"402023";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloid leukemia with NPM1 somatic mutations";"402026";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly";"402364";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive distal renal tubular acidosis";"402041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial bicuspid aortic valve";"402075";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polyarticular juvenile idiopathic arthritis";"404580";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic bone development disorder";"404584";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare female infertility due to oocyte maturation defect";"404469";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe intellectual disability-progressive spastic diplegia syndrome";"404473";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multisystemic smooth muscle dysfunction syndrome";"404463";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Female infertility due to zona pellucida defect";"404466";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome";"404451";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alacrimia-choreoathetosis-liver dysfunction syndrome";"404454";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tatton-Brown-Rahman syndrome";"404443";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ADNP syndrome";"404448";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome";"404437";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency";"404440";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic syndrome with limb malformations as a major feature";"404577";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic syndrome with limb reduction defects";"404574";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysostosis of genetic origin with limb anomaly as a major feature";"404571";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysostosis of genetic origin";"404568";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial atypical multiple mole melanoma syndrome";"404560";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vasculitis due to ADA2 deficiency";"404553";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DITRA";"404546";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked distal hereditary motor neuropathy";"404538";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinal muscular atrophy with respiratory distress type 2";"404521";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired cystic disease-associated renal cell carcinoma";"404514";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Clear cell papillary renal cell carcinoma";"404511";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chondromyxoid fibroma";"404507";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency";"404499";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency";"404493";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome";"404481";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome";"404476";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Central retinal vein occlusion";"411527";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mild phosphoribosylpyrophosphate synthetase superactivity";"411536";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe phosphoribosylpyrophosphate synthetase superactivity";"411543";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wolfram-like syndrome";"411590";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Insulin autoimmune syndrome";"411593";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary late-onset Parkinson disease";"411602";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile nephropathic cystinosis";"411629";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pontocerebellar hypoplasia type 10";"411493";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Williams-Campbell syndrome";"411501";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Angelman syndrome due to a point mutation";"411511";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Angelman syndrome due to imprinting defect in 15q11-q13";"411515";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Generalized eruptive keratoacanthoma";"411777";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maternal riboflavin deficiency";"411712";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial isolated trichomegaly";"411788";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome";"411986";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "13q12.3 microdeletion syndrome";"412035";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome";"412022";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ocular cystinosis";"411641";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile nephropathic cystinosis";"411634";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proton-pump inhibitor-responsive esophageal eosinophilia";"411696";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal agenesis";"411709";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary non-tuberculous mycobacterial infection";"411703";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Persistent combined dystonia";"391711";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Necrotizing enterocolitis";"391673";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature-optic atrophy-Pelger-Huët anomaly syndrome";"391677";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucinous adenocarcinoma of the appendix";"391723";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Relapsing fever";"91547";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transient neonatal myasthenia gravis";"391504";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile myasthenia gravis";"391497";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult-onset myasthenia gravis";"391490";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Off-periods in Parkinson disease not responding to oral treatment";"391655";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Refractory celiac disease";"398063";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of the penis";"398058";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenocarcinoma of the penis";"398053";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant tumor of penis";"398043";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome";"397973";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 2R";"397968";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to MALT1 deficiency";"397964";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TCR-alpha-beta-positive T-cell deficiency";"397959";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-thin corpus callosum-intellectual disability syndrome";"397951";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal spastic paraplegia type 58";"397946";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MAN1B1-CDG";"397941";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polyglucosan body myopathy type 1";"397937";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hyperkinetic movement disorder";"494457";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome";"397933";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome";"397927";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ferro-cerebro-cutaneous syndrome";"397922";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe combined immunodeficiency due to IKK2 deficiency";"397787";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "T+ B+ severe combined immunodeficiency";"397802";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Periodic paralysis with transient compartment-like syndrome";"397755";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies";"397758";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome";"397744";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Periodic paralysis with later-onset distal motor neuropathy";"397750";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "COASY protein-associated neurodegeneration";"397725";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2U";"397735";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome";"397709";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Joubert syndrome with Jeune asphyxiating thoracic dystrophy";"397715";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary isolated aplastic anemia";"397692";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3q27.3 microdeletion syndrome";"397695";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome";"397623";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hyperprolactinemia";"397685";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Obesity due to CEP19 deficiency";"397615";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome";"397618";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Activated PI3K-delta syndrome";"397596";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency";"397593";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrocephaly-developmental delay syndrome";"397612";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PrP systemic amyloidosis";"397606";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Silver-Russell syndrome due to a point mutation";"397590";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deep dermatophytosis";"397587";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple acyl-CoA dehydrogenase deficiency, mild type";"394532";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type";"394529";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Male infertility due to sperm disorder";"399771";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Male infertility due to gonadal dysgenesis or sperm disorder";"399764";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare male infertility due to testicular endocrine disorder";"399685";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare male infertility due to adrenal disorder";"399584";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epiphysiolysis of the hip";"399329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteochondrosis of genetic origin";"399391";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GCGR-related hyperglucagonemia";"438274";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder";"399572";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteonecrosis of genetic origin";"399380";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Avascular necrosis of genetic origin";"399388";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary non-traumatic avascular necrosis";"399180";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hereditary disease with avascular necrosis";"399185";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary avascular necrosis";"399169";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Traumatic avascular necrosis";"399175";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic avascular necrosis";"399307";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteochondrosis";"399319";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteonecrosis of the jaw";"399293";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary avascular necrosis";"399302";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal agenesis, unilateral";"93100";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-B crystallin-related late-onset myopathy";"399058";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant teratoma of ovary";"398987";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Finnish upper limb-onset distal myopathy";"399086";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "KLHL9-related early-onset distal myopathy";"399081";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal nebulin myopathy";"399103";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic precocious puberty in female";"435564";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare precocious puberty in female";"435561";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic precocious puberty";"435554";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic larynx anomaly";"435609";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic nose and cavum anomaly";"435606";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic otorhinolaryngological malformation";"435603";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Keppen-Lubinsky syndrome";"435628";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic tracheal anomaly";"435612";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital urachal anomaly";"435743";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "LIPE-related familial partial lipodystrophy";"435660";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CIDEC-related familial partial lipodystrophy";"435651";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature-advanced bone age-early-onset osteoarthritis syndrome";"435804";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal neonatal spasticity-epileptic encephalopathy syndrome";"435845";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome";"435930";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation";"435819";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progeroid features-hepatocellular carcinoma predisposition syndrome";"435953";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic atrial and intestinal dysrhythmia syndrome";"435988";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "COG2-CDG";"435934";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome";"435938";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome";"436141";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome";"436144";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive intermediate Charcot-Marie-Tooth disease type D";"435998";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Contractures-developmental delay-Pierre Robin syndrome";"436003";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency";"436159";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-expressive aphasia-facial dysmorphism syndrome";"436151";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thrombomodulin-related bleeding disorder";"436169";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Periodic fever-infantile enterocolitis-autoinflammatory syndrome";"436166";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephalic primordial dwarfism-insulin resistance syndrome";"436182";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome";"436174";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome";"436245";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease";"436242";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy";"436271";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency-enteropathy spectrum";"436252";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa";"436274";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity";"437552";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fatty acyl-CoA reductase 1 deficiency";"438178";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "STAT3-related early-onset multisystem autoimmune disease";"438159";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PCNA-related progressive neurodegenerative photosensitivity syndrome";"438134";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Steel syndrome";"438117";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "RARS-related autosomal recessive hypomyelinating leukodystrophy";"438114";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ketoacidosis due to monocarboxylate transporter-1 deficiency";"438075";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of keton body transport";"438072";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Human infection by orthopoxvirus";"438279";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive encephalomyelitis with rigidity and myoclonus";"438266";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation";"438216";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome";"438213";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe autosomal recessive macrothrombocytopenia";"438207";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ALECT2 amyloidosis";"439224";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "AApoAIV amyloidosis";"439232";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome";"439212";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "KCNQ2-related epileptic encephalopathy";"439218";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Zinc-responsive necrolytic acral erythema";"439196";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-recovering obstetric brachial plexus lesion";"439202";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Placental insufficiency";"439167";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pediatric arterial ischemic stroke";"439175";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Systemic polyarteritis nodosa";"439762";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PDE4D haploinsufficiency syndrome";"439822";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary polyarteritis nodosa";"439746";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Single-organ polyarteritis nodosa";"439755";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cutaneous polyarteritis nodosa";"439729";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary polyarteritis nodosa";"439737";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ABeta2M amyloidosis";"439246";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ITM2B amyloidosis";"439254";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital oculomotor nerve palsy";"440221";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease";"439854";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive severe congenital neutropenia";"439849";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome";"439897";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Plastic bronchitis";"439881";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Interstitial lung disease due to ABCA3 deficiency";"440402";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome";"440354";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Interstitial lung disease due to SP-C deficiency";"440392";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Necrotizing soft tissue infection";"440368";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated sedoheptulokinase deficiency";"440713";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extensive peripapillary myelinated nerve fibers";"440724";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined hamartoma of the retina and retinal pigment epithelium";"440727";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial neurogastrointestinal encephalomyopathy";"298";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ventriculomegaly-cystic kidney disease";"443988";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune interstitial lung disease-arthritis syndrome";"444092";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "11q22.2q22.3 microdeletion syndrome";"444002";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mandibulofacial dysostosis with alopecia";"443995";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XX ovarian dysgenesis-short stature syndrome";"444048";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 23";"444013";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome";"444069";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "20q11.2 microdeletion syndrome";"444051";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome";"444077";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebellar-facial-dental syndrome";"444072";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucolipidosis type III alpha/beta";"423461";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome";"423454";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency";"423384";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 38";"423296";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome";"423306";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cutaneous larva migrans";"423717";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare carcinoma of stomach";"423771";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect";"423693";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy";"423712";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare autonomic nervous system disorder";"423662";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome";"423479";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ARX-related encephalopathy-brain malformation spectrum";"423655";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary clear cell renal cell carcinoma";"422526";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 40";"423275";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare epithelial tumor of rectum";"423998";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of the rectum";"424002";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epithelial tumor of anal canal";"424010";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary gastric cancer";"423776";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Undifferentiated carcinoma of stomach";"423786";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare tumor of small intestine";"423793";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mesenchymal tumor of small intestine";"423798";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-complex motor and sensory axonal neuropathy syndrome";"423894";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare carcinoma of small intestine";"423957";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome";"431140";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare epithelial tumor of small intestine";"425368";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inherited digestive cancer-predisposing syndrome";"425003";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "STING-associated vasculopathy with onset in infancy";"425120";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenocarcinoma of the liver and intrahepatic biliary tract";"424943";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Undifferentiated carcinoma of liver and intrahepatic biliary tract";"424970";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare malignant epithelial tumor of liver and intrahepatic biliary tract";"424933";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carcinoma of liver and intrahepatic biliary tract";"424936";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenocarcinoma of the gallbladder and extrahepatic biliary tract";"424991";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of gallbladder and extrahepatic biliary tract";"424996";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of liver and intrahepatic biliary tract";"424975";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Biliary cystadenocarcinoma";"424982";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive encephalopathy with leukodystrophy due to DECR deficiency";"431361";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis";"431353";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Urachal sinus";"431344";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Urachal diverticulum";"431347";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked scapuloperoneal muscular dystrophy";"431272";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder";"431320";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 57";"431329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Scapuloperoneal spinal muscular atrophy";"431255";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Late-onset scapuloperoneal muscular dystrophy with hyaline bodies";"431263";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to OX40 deficiency";"431149";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary immunodeficiency with predisposition to severe viral infection";"431156";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection";"431166";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive myoclonic epilepsy type 7";"435438";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2Y";"435387";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anterior urethral valve";"435372";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fetal lower urinary tract obstruction";"435365";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial ossifying fibroma";"435329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome with woolly hair";"434809";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic autonomic nervous system disorder";"434786";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Orofaciodigital syndrome type 14";"434179";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome";"504476";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe combined immunodeficiency due to LAT deficiency";"504523";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary pheochromocytoma-paraganglioma";"29072";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tyrosinemia type 2";"28378";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Reactive arthritis";"29207";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple myeloma";"29073";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spontaneous periodic hypothermia";"29822";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated biliary atresia";"30391";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hyperaldosteronism type II";"404";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudohypoaldosteronism type 1";"756";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cataract-glaucoma syndrome";"162";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Follicular lymphoma";"545";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic aplastic anemia";"88";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple system atrophy";"102";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mendelian susceptibility to mycobacterial diseases";"748";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polycythemia vera";"729";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked myopathy with excessive autophagy";"25980";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile temporal arteritis";"26137";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary diffuse gastric cancer";"26106";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ventilator-induced diaphragmatic dysfunction";"505395";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign occipital epilepsy";"25968";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudomyxoma peritonei";"26790";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short chain acyl-CoA dehydrogenase deficiency";"26792";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple acyl-CoA dehydrogenase deficiency";"26791";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired prothrombin deficiency";"26348";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Protein S acquired deficiency";"26349";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital cervical spinal stenosis";"831";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant limb-girdle muscular dystrophy type 1A";"266";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5";"353";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Delta-sarcoglycan-related limb-girdle muscular dystrophy R6";"219";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multifocal motor neuropathy";"641";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beta-sarcoglycan-related limb-girdle muscular dystrophy R4";"119";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal myopathy, Welander type";"603";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to GINS1 deficiency";"505227";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome";"505237";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Muscle-eye-brain disease";"588";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Walker-Warburg syndrome";"899";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3-methylglutaconic aciduria type 9";"505216";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital muscular dystrophy, Fukuyama type";"272";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3-methylglutaconic aciduria type 8";"505208";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysferlin-related limb-girdle muscular dystrophy R2";"268";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Limb-girdle muscular dystrophy";"263";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vocal cord and pharyngeal distal myopathy";"600";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of the larynx";"494550";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders";"505248";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tibial muscular dystrophy";"609";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GNE myopathy";"602";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome";"505242";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MEPAN syndrome";"508093";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome";"508533";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome";"508542";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial intestinal malrotation";"508410";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome";"508512";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intermediate epidermolysis bullosa simplex with cardiomyopathy";"508529";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperphenylalaninemia due to DNAJC12 deficiency";"508523";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "8q24.3 microdeletion syndrome";"508488";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome";"508476";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oral-facial-digital syndrome with short stature and brachymesophalangy";"508501";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome";"508498";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CDKL5-deficiency disorder";"505652";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome";"506784";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial steroid-resistant nephrotic syndrome with adrenal insufficiency";"506334";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Stromme syndrome";"506307";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gabriele-de Vries syndrome";"506358";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction";"506353";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder potentially indicated for bowel transplant";"506216";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder potentially indicated for hematopoietic stem cell transplant";"506219";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder potentially indicated for lung transplant";"506222";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder potentially indicated for heart transplant";"506225";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuroendocrine neoplasm of esophagus";"506136";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder potentially indicated for transplant";"506207";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder potentially indicated for liver transplant";"506210";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder potentially indicated for kidney transplant";"506213";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Serotonin-producing neuroendocrine tumor of pancreas";"506090";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuroendocrine carcinoma of pancreas";"506098";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas";"506112";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuroendocrine neoplasm of pancreas";"506052";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Functioning neuroendocrine tumor of pancreas";"506060";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-functioning neuroendocrine tumor of pancreas";"506075";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 2T";"495274";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "C11ORF73-related autosomal recessive hypomyelinating leukodystrophy";"495844";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "9q33.3q34.11 microdeletion syndrome";"495818";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital agenesis of the scrotum";"495879";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome";"495875";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial monosomy 7 syndrome";"495930";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome";"496641";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome";"496686";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome";"496689";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome";"496693";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "EVEN-plus syndrome";"496751";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vulvar adenocarcinoma";"494454";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome";"494444";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vulvar squamous cell carcinoma";"494448";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "RERE-related neurodevelopmental syndrome";"494344";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sacrococcygeal teratoma";"494421";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of the hypopharynx";"494547";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Childhood-onset benign chorea with striatal involvement";"494541";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile-onset generalized dyskinesia with orofacial involvement";"494526";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Björnstad syndrome";"123";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Quinquaud folliculitis decalvans";"346";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome";"500533";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract";"500545";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dissecting cellulitis of the scalp";"345";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Creeping myiasis";"504";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hymenolepiasis";"401";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Histoplasmosis";"390";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cystic echinococcosis";"400";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of the nasal cavity and paranasal sinuses";"500464";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute promyelocytic leukemia";"520";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Heterotaxia";"450";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Roch-Leri mesosomatous lipomatosis";"529";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal diabetes mellitus";"224";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cochlear nerve deficiency";"502318";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of the oral cavity";"502363";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of the lip";"502366";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Squamous cell carcinoma of oral cavity and lip";"502369";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome";"502423";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metopic ridging-ptosis-facial dysmorphism syndrome";"502430";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome";"502434";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "4q25 proximal deletion syndrome";"502437";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Erythema multiforme major";"502499";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alkaline ceramidase 3 deficiency";"502444";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Normosmic congenital hypogonadotropic hypogonadism";"432";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aromatase deficiency";"91";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Estrogen resistance syndrome";"785";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Desmoid tumor";"873";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wells syndrome";"901";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sebocystomatosis";"841";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peeling skin syndrome";"817";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial multiple trichoepithelioma";"867";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Porokeratosis plantaris palmaris et disseminata";"737";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital prekallikrein deficiency";"749";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital high-molecular-weight kininogen deficiency";"483";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital plasminogen activator inhibitor type 1 deficiency";"465";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Relapsing polychondritis";"728";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-acquired combined pituitary hormone deficiency";"467";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dextrocardia";"1666";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary pediatric heart tumor";"875";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary adult heart tumor";"874";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial atrioventricular septal defect";"1330";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial idiopathic dilatation of the right atrium";"1677";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pili bifurcati";"720";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary cutis verticis gyrata";"671";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trichofolliculoma";"864";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Marie Unna hereditary hypotrichosis";"444";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proliferating trichilemmal cyst";"492";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ectrodactyly with and without other manifestations";"498477";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "LRP5-related primary osteoporosis";"498481";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kerion celsi";"499";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Athabaskan brainstem dysgenesis syndrome";"69739";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome";"498485";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Monilethrix";"573";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Overgrowth syndrome with 2q37 translocation";"498488";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syringocystadenoma papilliferum";"840";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mirror-image polydactyly";"498494";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Birt-Hogg-Dubé syndrome";"122";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrokeratoelastoidosis of Costa";"38";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acromelanosis";"39";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive symmetric erythrokeratodermia";"316";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-histaminic angioedema";"658";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Systemic capillary leak syndrome";"188";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dystrophic epidermolysis bullosa";"303";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ulerythema ophryogenesis";"3406";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CLCN4-related X-linked intellectual disability syndrome";"485350";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Propylthiouracil embryofetopathy";"485358";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired schizencephaly";"485275";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome";"482606";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare idiopathic macular telangiectasia";"482092";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenylosuccinate synthetase-like 1-related distal myopathy";"482601";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Female infertility due to oocyte meiotic arrest";"488191";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome";"480907";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome";"480898";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability";"480880";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "USP18 deficiency";"481665";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Type 1 interferonopathy of childhood";"481671";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "HTRA1-related cerebral small vessel disease";"482072";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "HTRA1-related autosomal dominant cerebral small vessel disease";"482077";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic alopecia";"481771";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial schizencephaly";"481986";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PYCR2-related microcephaly-progressive leukoencephalopathy";"481152";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial Chilblain lupus";"481662";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gastroenteric neuroendocrine neoplasm";"481508";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal hydranencephaly-diaphragmatic hernia syndrome";"480528";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MSH3-related attenuated familial adenomatous polyposis";"480536";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital portosystemic shunt";"480531";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary intrahepatic lithiasis";"480506";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Choledochal cyst";"480501";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Caroli syndrome";"480520";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic ductopenia";"480512";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hypercholesterolemia";"477811";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome";"477814";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic cardiac malformation";"477805";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Other genetic dermis disorder";"477808";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic constitutional thrombocytopenia";"477794";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated constitutional thrombocytopenia";"477797";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary condylar hyperplasia";"477781";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder";"477787";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 29";"478029";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 30";"478042";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome";"477993";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency";"477857";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PMP22-RAI1 contiguous gene duplication syndrome";"477817";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kosaki overgrowth syndrome";"477831";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome";"478049";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary sensory and autonomic neuropathy type 8";"478664";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Type 1 interferonopathy";"477647";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fibroblastic rheumatism";"477650";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IL21-related infantile inflammatory bowel disease";"477661";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 26";"477684";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome";"477673";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pediatric multiple sclerosis";"477738";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pontine autosomal dominant microangiopathy with leukoencephalopathy";"477749";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nodular fasciitis";"477742";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "COL4A1 or COL4A2-related cerebral small vessel disease";"477759";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic cerebral small vessel disease";"477754";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy";"477765";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy";"477762";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder with a moyamoya angiopathy";"477771";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Moyamoya angiopathy";"477768";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 27";"477774";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Demyelinating hereditary motor and sensory neuropathy";"476116";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome";"476119";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 76";"488594";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome";"488197";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephaly-congenital cataract-psoriasiform dermatitis syndrome";"488168";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated anencephaly";"563609";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome";"487796";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation";"487814";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pierpont syndrome";"487825";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare pediatric rheumatologic disease";"486955";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary hypomagnesemia with secondary hypocalcemia";"30924";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital brain dysgenesis due to glutamine synthetase deficiency";"71278";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CANOMAD syndrome";"71279";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare central nervous system and retinal vascular disease";"71281";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Split hand-split foot-deafness syndrome";"71271";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sandifer syndrome";"71272";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal nutcracker syndrome";"71273";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disseminated peritoneal leiomyomatosis";"71274";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rh deficiency syndrome";"71275";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Silent sinus syndrome";"71276";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic glucose transporter type 1 deficiency syndrome";"71277";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare soft tissue tumor";"71209";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency";"71212";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuromyelitis optica spectrum disorder";"71211";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome";"71267";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinal capillary malformation";"71213";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare pulmonary hypertension";"71198";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune thrombocytopenia";"71203";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hemorrhagic disorder due to a constitutional platelet anomaly";"71202";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic gastroparesis";"558411";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic thromboembolic pulmonary hypertension";"70591";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency";"70592";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bronchopulmonary dysplasia";"70589";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile apnea";"70590";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome";"70595";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital Epstein-Barr virus infection";"70596";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency due to selective anti-polysaccharide antibody deficiency";"70593";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dopa-responsive dystonia due to sepiapterin reductase deficiency";"70594";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult acute respiratory distress syndrome";"70578";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Small cell lung cancer";"70573";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Post-transplant lymphoproliferative disease";"70568";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Meconium aspiration syndrome";"70588";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infant acute respiratory distress syndrome";"70587";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type";"70472";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cholangiocarcinoma";"70567";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder with Hirschsprung disease as a major feature";"557866";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carcinoma of esophagus";"70482";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vernal keratoconjunctivitis";"70476";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Radiation proctitis";"70475";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Circumscribed palmoplantar hypokeratosis";"69744";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Warty dyskeratoma";"69745";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome";"69735";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bilateral acute depigmentation of the iris";"69736";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bosley-Salih-Alorainy syndrome";"69737";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Low phospholipid-associated cholelithiasis";"69663";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intrahepatic cholestasis of pregnancy";"69665";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tyrosinemia type 3";"69723";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PAPA syndrome";"69126";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Naegeli-Franceschetti-Jadassohn syndrome";"69087";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anonychia with flexural pigmentation";"69125";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome";"69088";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant optic atrophy and cataract";"67036";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mast cell sarcoma";"66661";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cutaneous mastocytosis";"66646";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diaphanospondylodysostosis";"66637";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dilated cardiomyopathy with ataxia";"66634";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sensorineural hearing loss-early graying-essential tremor syndrome";"66633";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CEDNIK syndrome";"66631";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pseudoarthrosis of the clavicle";"66630";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Goldberg-Shprintzen megacolon syndrome";"66629";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Obesity due to congenital leptin deficiency";"66628";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tenosynovial giant cell tumor";"66627";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebrooculonasal syndrome";"66625";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tako-Tsubo cardiomyopathy";"66529";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atrophoderma vermiculata";"79100";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short fifth metacarpals-insulin resistance syndrome";"66518";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Goodman syndrome";"65798";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Timothy syndrome";"65283";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carvajal syndrome";"65282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome";"562639";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lhermitte-Duclos disease";"65285";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Biotin-thiamine-responsive basal ganglia disease";"65284";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beta-ureidopropionase deficiency";"65287";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3q29 microdeletion syndrome";"65286";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vaginal atresia";"65681";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome";"65288";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated focal cortical dysplasia";"65683";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign recurrent intrahepatic cholestasis";"65682";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arthrogryposis-severe scoliosis syndrome";"65720";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Monomelic amyotrophy";"65684";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple self-healing squamous epithelioma";"65748";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant multiple pterygium syndrome";"65743";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carpenter syndrome";"65759";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 1";"65753";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IgG4-related thyroid disease";"64744";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pruritic urticarial papules and plaques of pregnancy";"64745";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2";"64746";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked Charcot-Marie-Tooth disease";"64747";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dejerine-Sottas syndrome";"64748";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 4";"64749";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary motor and sensory neuropathy type 5";"64751";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary sensory and autonomic neuropathy type 5";"64752";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia with axonal neuropathy type 2";"64753";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nevus comedonicus syndrome";"64754";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital limbs-face contractures-hypotonia-developmental delay syndrome";"562528";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Becker nevus syndrome";"64755";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anterior maxillary protrusion-strabismus-intellectual disability syndrome";"562559";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Perineural cyst";"65250";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome";"562569";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tolosa-Hunt syndrome";"64686";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign idiopathic neonatal seizures";"64545";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrofacial dysostosis, Kennedy-Teebi type";"64542";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Childhood absence epilepsy";"64280";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Granulomatous mastitis";"64722";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leiomyosarcoma";"64720";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trench fever";"64694";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oroya fever";"64692";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ovarian hyperstimulation syndrome";"64739";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Iridocorneal endothelial syndrome";"64734";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hepatoportal sclerosis";"64743";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pleuropulmonary blastoma";"64742";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary blastoma";"64741";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "FOXG1 syndrome";"561854";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis";"63269";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Iniencephaly";"63259";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniorachischisis";"63260";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Angel-shaped phalango-epiphyseal dysplasia";"63442";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal myopathy with posterior leg and anterior hand involvement";"63273";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pemphigoid gestationis";"63275";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pattern dystrophy";"63454";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paraneoplastic pemphigus";"63455";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare epithelial tumor of stomach";"63443";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrocapitofemoral dysplasia";"63446";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IgG4-related mediastinitis";"63999";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Schisis association";"63862";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Megalencephaly-capillary malformation-polymicrogyria syndrome";"60040";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pudendal neuralgia";"60039";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital heart block";"60041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic nephrotic syndrome";"564127";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Furuncular myiasis due to Cordylobia rodhaini";"563690";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic congenital sodium diarrhea";"563708";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Furuncular myiasis due to Dermatobia hominis";"563684";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Furuncular myiasis due to Cordylobia anthropophaga";"563687";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucinous cystadenoma of childhood";"563671";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Seromucinous cystadenoma of childhood";"563676";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Serous cystadenoma of childhood";"563666";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atelosteogenesis type III";"56305";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated exencephaly";"563612";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carcinoma of gallbladder and extrahepatic biliary tract";"56044";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Seronegative autoimmune hepatitis";"563589";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chondrosarcoma";"55880";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune hepatitis type 2";"563581";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adamantinoma";"55881";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune hepatitis type 1";"563576";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypotrichosis simplex";"55654";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pneumococcal meningitis";"55655";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Other metabolic disease with skin involvement";"79217";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oligosaccharidosis";"79215";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of biogenic amine metabolism and transport";"79214";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metabolic disease involving other neurotransmitter deficiency";"79219";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23";"565837";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniosynostosis-microretrognathia-severe intellectual disability syndrome";"565858";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of lysosomal amino acid transport";"79207";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile inflammatory bowel disease with neurological involvement";"565788";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucopolysaccharidosis";"79213";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucolipidosis";"79212";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "POMGNT2-related limb-girdle muscular dystrophy R24";"565899";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Calpain-3-related limb-girdle muscular dystrophy D4";"565909";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypoxanthine guanine phosphoribosyltransferase partial deficiency";"79233";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "HJV or HAMP-related hemochromatosis";"79230";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Galactokinase deficiency";"79237";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome";"566067";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Crigler-Najjar syndrome type 1";"79234";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Crigler-Najjar syndrome type 2";"79235";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of purine or pyrimidine metabolism";"79224";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sphingolipidosis";"79225";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sterol metabolism disorder";"79226";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of ketolysis";"79183";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of ornithine or proline metabolism";"79185";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of peptide metabolism";"79187";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of pentose phosphate metabolism";"79186";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peroxisome biogenesis disorder";"79189";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peroxisomal beta-oxidation disorder";"79188";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of gamma-aminobutyric acid metabolism";"79175";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of fatty acid oxidation and ketone body metabolism";"79174";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gluconeogenesis disorder";"79177";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of glycerol metabolism";"79179";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glucose transport disorder";"79178";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of histidine metabolism";"79181";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of energy metabolism";"79200";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined oxidative phosphorylation defect type 39";"565624";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary triglyceride deposit cardiomyovasculopathy";"565612";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease";"79201";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder potentially indicated for transplant or complication after transplantation";"565779";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary desmosis coli";"565641";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lipid storage disease";"79204";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Methotrexate toxicity";"565782";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of phenylalanin or tyrosine metabolism";"79190";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of serine or glycine metabolism";"79194";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of cobalamin metabolism and transport";"79171";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of bile acid synthesis";"79168";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of neurotransmitter metabolism and transport";"79169";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of amino acid absorption and transport";"79166";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of urea cycle metabolism and ammonia detoxification";"79167";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic organic aciduria";"79163";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of carbohydrate metabolism";"79161";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebral organic aciduria";"79158";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isobutyryl-CoA dehydrogenase deficiency";"79159";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Developmental malformations-deafness-dystonia syndrome";"79107";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Eiken syndrome";"79106";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome";"79118";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mandibulofacial dysostosis-microcephaly syndrome";"79113";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thyrotoxic periodic paralysis";"79102";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myxofibrosarcoma";"79105";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Interstitial granulomatous dermatitis with arthritis";"79099";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperprolinemia type 2";"79101";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital autosomal recessive small-platelet thrombocytopenia";"566192";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome";"566175";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bickerstaff brainstem encephalitis";"79138";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Japanese encephalitis";"79139";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cutaneous neuroendocrine carcinoma";"79140";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary painful callosities";"79141";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DEND syndrome";"79134";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Episodic ataxia type 3";"79135";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Episodic ataxia type 4";"79136";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Generalized epilepsy-paroxysmal dyskinesia syndrome";"79137";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trichodysplasia-amelogenesis imperfecta syndrome";"79129";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Focal facial dermal dysplasia type I";"79133";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hepatic veno-occlusive disease-immunodeficiency syndrome";"79124";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute interstitial pneumonia";"79126";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Respiratory bronchiolitis-interstitial lung disease syndrome";"79127";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphoid interstitial pneumonia";"79128";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microphthalmia-brain atrophy syndrome";"77299";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Morgagni-Stewart-Morel syndrome";"77296";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Majeed syndrome";"77297";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome";"567502";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome";"77300";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Monosomy 9q22.3";"77301";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic multidrug-resistant nephrotic syndrome";"567550";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic obesity";"77828";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic steroid-resistant nephrotic syndrome";"567548";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance";"567546";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic non-lupus full-house nephropathy";"567544";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic systemic disease with glomerulopathy as a major feature";"567556";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-genetic systemic disease with glomerulopathy as a major feature";"567558";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy";"567552";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Systemic disease with glomerulopathy as a major feature";"567554";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic odontologic disease";"77830";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nephrotic syndrome without extrarenal manifestations";"567564";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PPARG-related familial partial lipodystrophy";"79083";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IgG4-related dacryoadenitis and sialadenitis";"79078";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Systemic vasculitis associated with glomerulopathy";"567560";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile polyposis of infancy";"79076";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder with multisystemic involvement and glomerulopathy";"567562";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder of amino acid and other organic acid metabolism";"79062";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired partial lipodystrophy";"79087";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired generalized lipodystrophy";"79086";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "AKT2-related familial partial lipodystrophy";"79085";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial partial lipodystrophy, Köbberling type";"79084";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Parenteral nutrition-associated cholestasis";"567983";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Foix-Alajouanine syndrome";"79093";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary lymphedema without systemic or visceral involvement";"568041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome";"79091";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Localized lipodystrophy";"79088";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Loeffler endocarditis";"75566";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "6q terminal deletion syndrome";"75857";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital muscular dystrophy, Ullrich type";"75840";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary lymphedema";"77240";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MORM syndrome";"75858";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trichorhinophalangeal syndrome type 1";"77258";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gaucher disease type 2";"77260";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gaucher disease type 1";"77259";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bleeding diathesis due to a collagen receptor defect";"73271";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Zygomycosis";"73263";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-24-hour sleep-wake syndrome";"73267";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Central neurocytoma";"73256";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paracoccidioidomycosis";"73260";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome";"73246";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute ackee fruit intoxication";"73423";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Growth delay due to insulin-like growth factor type 1 deficiency";"73272";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Growth delay due to insulin-like growth factor I resistance";"73273";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinal arterial tortuosity";"75326";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osteosclerosis-ichthyosis-premature ovarian failure syndrome";"75325";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial isolated restrictive cardiomyopathy";"75249";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cholesteryl ester storage disease";"75234";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wolman disease";"75233";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myiasis";"75110";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial platelet disorder with associated myeloid malignancy";"71290";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial thrombocytosis";"71493";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cancer-associated retinopathy";"71505";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome";"71289";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Obesity due to pro-opiomelanocortin deficiency";"71526";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Obesity due to prohormone convertase I deficiency";"71528";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Obesity due to melanocortin 4 receptor deficiency";"71529";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rapid-onset dystonia-parkinsonism";"71517";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign paroxysmal torticollis of infancy";"71518";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Psychogenic movement disorders";"71519";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inherited retinal disorder";"71862";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple mitochondrial dysfunctions syndrome type 6";"569290";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Muscular channelopathy";"71864";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic neurological disorder";"71859";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcystic stromal tumor";"569248";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "HANAC syndrome";"73229";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kidney tubulopathy-dilated cardiomyopathy syndrome";"73224";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome";"73245";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ossification anomalies-psychomotor developmental delay syndrome";"73230";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Müllerian aplasia";"73217";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intractable diarrhea of infancy";"73014";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Global developmental delay-osteopenia-ectodermal defect syndrome";"73223";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acitretin/etretinate embryopathy";"40366";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Eales disease";"40923";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Graft versus host disease";"39812";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial apolipoprotein A5 deficiency";"530849";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Omenn syndrome";"39041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "KRT1-related diffuse nonepidermolytic keratoderma";"530838";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Uveal melanoma";"39044";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "RELA fusion-positive ependymoma";"530792";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dihydropyrimidinuria";"38874";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Schnitzler syndrome";"37748";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PIK3CA-related overgrowth syndrome";"530313";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive dementia with neuroserpin inclusion bodies";"530303";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Episodic ataxia type 1";"37612";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired kinky hair syndrome";"37559";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive myoclonic epilepsy with neuroserpin inclusion bodies";"530298";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Andersen-Tawil syndrome";"37553";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Interstitial cystitis";"37202";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome";"37042";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune hypoparathyroidism";"36913";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myoclonus-dystonia syndrome";"36899";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial disorder due to a defect in mitochondrial protein synthesis";"35696";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3-hydroxy-3-methylglutaryl-CoA synthase deficiency";"35701";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitochondrial DNA depletion syndrome";"35698";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked dominant chondrodysplasia punctata";"35173";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Erdheim-Chester disease";"35687";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Serpiginous choroiditis";"35686";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ALDH18A1-related De Barsy syndrome";"35664";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coenzyme Q10 deficiency";"35656";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency";"35120";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Desmosterolosis";"35107";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic bicoronal craniosynostosis";"35099";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidermal nevus syndrome";"35125";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital sucrase-isomaltase deficiency";"35122";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lysosomal acid phosphatase deficiency";"35121";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bleeding disorder due to P2Y12 defect";"36355";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial cervical artery dissection";"36382";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "COL4A1-related familial vascular leukoencephalopathy";"36383";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary sensory and autonomic neuropathy type 1";"36386";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bacterial toxic-shock syndrome";"36234";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Staphylococcal scalded skin syndrome";"36236";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Staphylococcal scarlet fever";"36235";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Staphylococcal necrotizing pneumonia";"36238";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bullous impetigo";"36237";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gastric linitis plastica";"36273";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant sex cord stromal tumor of ovary";"35808";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant germ cell tumor of ovary";"35807";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperinsulinism-hyperammonemia syndrome";"35878";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Imerslund-Gräsbeck syndrome";"35858";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined deficiency of factor V and factor VIII";"35909";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute opioid intoxication";"35889";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intestinal lymphangiectasia";"36204";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polymicrogyria";"35981";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "5-oxoprolinase deficiency";"33572";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kleine-Levin syndrome";"33543";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Meningococcal meningitis";"33475";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuroectodermal melanolysosomal disease";"33445";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bullous lichen planus";"33408";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pediatric hepatocellular carcinoma";"33402";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Naxos disease";"34217";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant tubulointerstitial kidney disease";"34149";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "NON RARE IN EUROPE: Berger disease";"34145";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nodular non-suppurative panniculitis";"33577";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glutamate-cysteine ligase deficiency";"33574";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gamma-glutamyl transpeptidase deficiency";"33573";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal agammaglobulinemia";"33110";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Granulomatous slack skin";"33111";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal multiple pterygium syndrome";"33108";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metaphyseal chondrodysplasia, Jansen type";"33067";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dravet syndrome";"33069";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphedema-distichiasis syndrome";"33001";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Reticular dysgenesis";"33355";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial lipase maturation factor 1 deficiency";"535453";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trichothiodystrophy";"33364";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kaposi sarcoma";"33276";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Jessner lymphocytic infiltration of the skin";"33314";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic hypersomnia";"33208";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Waldenström macroglobulinemia";"33226";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile neuroaxonal dystrophy";"35069";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic sagittal craniosynostosis";"35093";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "T-B+ severe combined immunodeficiency due to JAK3 deficiency";"35078";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fulminant viral hepatitis";"35063";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe disseminated cytomegalovirus infection in immunocompetent patients";"35062";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital muscular dystrophy with integrin alpha-7 deficiency";"34520";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Telethonin-related limb-girdle muscular dystrophy R7";"34514";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "FKRP-related limb-girdle muscular dystrophy R9";"34515";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DNAJB6-related limb-girdle muscular dystrophy D1";"34516";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to LAMP-2 deficiency";"34587";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency by defective expression of MHC class I";"34592";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant primary hypomagnesemia with hypocalciuria";"34528";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Corneal dystrophy";"34533";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Left ventricular noncompaction";"54260";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Posterior cortical atrophy";"54247";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Corticosteroid-sensitive aseptic abscess syndrome";"54251";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thrombotic thrombocytopenic purpura";"54057";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal hereditary motor neuropathy";"53739";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wyburn-Mason syndrome";"53719";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinal arteriovenous metameric syndrome";"53721";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myosin storage myopathy";"53698";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial tumoral calcinosis";"53715";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arthrogryposis-anterior horn cell disease syndrome";"53696";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vegetative pyoderma gangrenosum";"538872";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gnathodiaphyseal dysplasia";"53697";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital cornea plana";"53691";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bullous pyoderma gangrenosum";"538869";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pustular pyoderma gangrenosum";"538866";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GRACILE syndrome";"53693";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to CD70 deficiency";"538958";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined immunodeficiency due to ITK deficiency";"538963";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Zellweger-like syndrome without peroxisomal anomalies";"50812";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Branchiogenic deafness syndrome";"50815";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired purpura fulminans";"49566";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lichen amyloidosis";"49804";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thiamine-responsive megaloblastic anemia syndrome";"49827";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pleural mesothelioma";"50251";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blomstrand lethal chondrodysplasia";"50945";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Schöpf-Schulz-Passarge syndrome";"50944";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Torsade-de-pointes syndrome with short coupling interval";"51084";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial short QT syndrome";"51083";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cat-scratch disease";"50839";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Duane anomaly-myopathy-scoliosis syndrome";"50817";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Keratolytic winter erythema";"50943";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Striate palmoplantar keratoderma";"50942";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kikuchi-Fujimoto disease";"50918";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniosynostosis-intracranial calcifications syndrome";"52054";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Potocki-Shaffer syndrome";"52022";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Braddock syndrome";"52047";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cobblestone lissencephaly";"51577";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Generalized arterial calcification of infancy";"51608";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ethylmalonic encephalopathy";"51188";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Growth delay-intellectual disability-hepatopathy syndrome";"541423";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Formiminoglutamic aciduria";"51208";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anomalous origin of coronary artery from the pulmonary artery";"541507";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anomalous aortic origin of coronary artery";"541478";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "WHIM syndrome";"51636";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SYNGAP1-related developmental and epileptic encephalopathy";"544254";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nodular regenerative hyperplasia of the liver";"48372";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lewis-Sumner syndrome";"48162";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Streptococcus pneumoniae-associated hemolytic uremic syndrome";"544493";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pyoderma gangrenosum";"48104";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "RNF13-related severe early-onset epileptic encephalopathy";"544503";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Felty syndrome";"47612";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infection-related hemolytic uremic syndrome";"544482";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proximal renal tubular acidosis";"47159";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome";"544488";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PRUNE1-related neurological syndrome";"544469";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical hemolytic uremic syndrome with complement gene abnormality";"544472";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial cold urticaria";"47045";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome";"544628";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Collagen-related glomerular basement membrane disease";"544590";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital myopathy with reduced type 2 muscle fibers";"544602";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Subcorneal pustular dermatosis";"48377";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital primary megaureter, refluxing and obstructed form";"544578";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "NAD(P)HX dehydratase deficiency";"555402";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fibrohistiocytic inflammatory pseudotumor of the liver";"555434";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "NAD(P)HX epimerase deficiency";"555407";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphoplasmacytic inflammatory pseudotumor of the liver";"555437";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital tricuspid valve dysplasia";"555874";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "FLNA-related X-linked myxomatous valvular dysplasia";"555877";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IgA pemphigus";"555905";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset familial hypoaldosteronism";"556030";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Late-onset familial hypoaldosteronism";"556037";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset calcifying leukoencephalopathy-skeletal dysplasia";"556985";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pancreatic agenesis-holoprosencephaly syndrome";"556955";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder due to poisoning";"556508";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal epileptic encephalopathy due to glutaminase deficiency";"557064";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spastic ataxia-dysarthria due to glutaminase deficiency";"557056";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculoskeletodental syndrome";"557003";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired aneurysmal subarachnoid hemorrhage";"90065";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pneumonia caused by Pseudomonas aeruginosa infection";"90066";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cocaine intoxication";"90068";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-infectious posterior uveitis";"90061";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute liver failure";"90062";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial deep dermal and full thickness burns";"90076";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Systemic monochloroacetate poisoning";"90069";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retinopathy of prematurity";"90050";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary folate malabsorption";"90045";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Recurrent hepatitis C virus induced liver disease in liver transplant recipients";"90052";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disorder with optic nerve compression";"519337";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sepsis in premature infants";"90051";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudopapilledema";"519339";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic inherited retinal disorder";"519325";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gaisböck syndrome";"90041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic vitreoretinopathy";"519327";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemoglobin D disease";"90039";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder involving multiple structures of the eye";"519329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial pseudohyperkalemia";"90044";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary early-onset glaucoma";"519331";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary familial polycythemia";"90042";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare ophthalmic disorder with cranial nerve involvement";"519349";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare optic nerve disorder";"519351";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare trochlear nerve disorder";"519353";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diffuse alveolar hemorrhage";"90060";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare ocular motility/alignment disorder";"519355";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sudden sensorineural hearing loss";"90059";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature";"519341";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare ophthalmic disorder with cortical involvement";"519343";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complications after hematopoietic stem cell transplantation";"90053";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder with optic disc malformation";"519345";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Moderate and severe traumatic brain injury";"90056";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare neuromuscular disorder with ocular motility/alignment anomaly";"519347";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deafness with labyrinthine aplasia, microtia, and microdontia";"90024";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated progressive inherited retinal disorder";"519306";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic syndactyly";"90025";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated vitreoretinopathy";"519304";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated macular dystrophy";"519302";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary immunodeficiency syndrome due to LAMTOR2 deficiency";"90023";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated chorioretinal dystrophy";"519300";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare scleral disorder";"519298";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Parkinson-dementia complex of Guam";"90020";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder with pigmented sclera";"519296";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Radiation myelitis";"90021";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Undifferentiated connective tissue syndrome";"90002";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic microspherophakia";"519294";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic ectopia lentis";"519292";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inflammatory pseudotumor of the liver";"90003";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic macular dystrophy";"519323";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Drug-induced autoimmune hemolytic anemia";"90037";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic chorioretinal dystrophy";"519321";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Shiga toxin-associated hemolytic uremic syndrome";"90038";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paroxysmal cold hemoglobinuria";"90035";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated stationary inherited retinal disorder";"519319";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare retinal vasculopathy";"519317";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mixed-type autoimmune hemolytic anemia";"90036";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare retinal disorder";"519315";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-spherocytic hemolytic anemia due to hexokinase deficiency";"90031";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare macular disorder";"519313";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune hemolytic anemia, warm type";"90033";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder of the posterior segment of the eye";"519311";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary erythromelalgia";"90026";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare choroidal disorder";"519309";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital tufting enteropathy";"92050";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemolytic anemia due to glutathione reductase deficiency";"90030";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked hypophosphatemia";"89936";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Structural developmental eye defect";"519272";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic lacrimal system disorder";"519274";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder with ectropion";"519268";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lissencephaly syndrome, Norman-Roberts type";"89844";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder with entropion";"519270";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dystrophic epidermolysis bullosa pruriginosa";"89843";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form";"89842";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inflammatory/autoimmune disorder involving the lacrimal system";"519264";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder of the ocular adnexa";"519266";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked cone dysfunction syndrome with myopia";"90001";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder with corneal involvement as a major feature";"519288";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare inflammatory/autoimmune corneal disorder";"519290";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Erythema elevatum diutinum";"90000";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder of the anterior segment of the eye";"519284";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder of the pupil";"519286";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare conjunctivitis";"519280";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare corneal disorder";"519282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anterior segment developmental abnormality with extraocular manifestations";"519276";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bartter syndrome type 4";"89938";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant hypophosphatemic rickets";"89937";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infective keratitis";"519278";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blau syndrome";"90340";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Xeroderma pigmentosum variant";"90342";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant cutis laxa";"90348";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cutis laxa type 1";"90349";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cutis laxa type 2";"90350";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brittle cornea syndrome";"90354";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cockayne syndrome type 3";"90324";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Centrifugal lipodystrophy";"90156";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Drug-induced localized lipodystrophy";"90157";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mandibuloacral dysplasia with type A lipodystrophy";"90153";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mandibuloacral dysplasia with type B lipodystrophy";"90154";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pressure-induced localized lipoatrophy";"90160";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic localized lipodystrophy";"90158";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Panniculitis-induced localized lipodystrophy";"90159";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Discoid lupus erythematosus";"90281";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Meige disease";"90186";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lupus erythematosus panniculitis";"90285";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypertrophic or verrucous lupus erythematosus";"90282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lupus erythematosus tumidus";"90283";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Scarring in glaucoma filtration surgical procedures";"90080";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Invasive infections due to vancomycin-resistant enterococci";"90078";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Other acquired skin disease";"90077";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome";"90103";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "AIDS wasting syndrome";"90081";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe early-onset axonal neuropathy due to MFN2 deficiency";"90118";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary motor and sensory neuropathy, Okinawa type";"90117";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant intermediate Charcot-Marie-Tooth disease";"90114";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary motor and sensory neuropathy type 6";"90120";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary motor and sensory neuropathy with acrodystrophy";"90119";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Prepubertal anorexia nervosa";"525738";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic choroidal disorder";"522584";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pediatric-onset glaucoma";"523000";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic macular disorder";"522574";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic retinal vasculopathy";"522576";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic disorder involving multiple structures of the eye";"522578";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary early-onset glaucoma of genetic origin";"522580";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic disorder of the pupil";"522568";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic inflammatory/autoimmune corneal disorder";"522566";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic retinal disorder";"522572";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic disorder of the posterior segment of the eye";"522570";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic corneal dystrophy";"522560";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic disorder with corneal involvement as a major feature";"522558";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic genetic keratoconus";"522564";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic superficial corneal dystrophy";"522562";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lens position anomaly of genetic origin";"522552";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lens size anomaly of genetic origin";"522550";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic corneal disorder";"522556";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic genetic ectopia lentis";"522554";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic disorder with conjunctival involvement as a major feature";"522542";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic genetic cataract";"522548";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic disorder with lens opacification";"522546";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic disorder of the anterior segment of the eye";"522538";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anterior segment developmental anomaly of genetic origin";"522540";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial acute necrotizing encephalopathy";"88619";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "S-adenosylhomocysteine hydrolase deficiency";"88618";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lacrimal drainage system anomaly of genetic origin";"522534";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Structural developmental eye defect of genetic origin";"522536";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive non-syndromic intellectual disability";"88616";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic disorder with entropion";"522530";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic disorder of the lacrimal apparatus";"522532";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic genetic deafness";"87884";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic palpebral disorder";"522526";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic eyelid malposition disorder";"522528";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic neuromuscular disorder with ocular motility/alignment anomaly";"522522";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare intellectual disability";"87277";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic disorder of the ocular adnexa";"522524";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic disorder with strabismus";"522518";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic genetic disorder with strabismus";"522520";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type";"86923";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital optic disc excavation of genetic origin";"522514";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic ocular motility/alignment disorder";"522516";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic ophthalmic disorder with cranial nerve involvement";"522510";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dermatopathia pigmentosa reticularis";"86920";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic optic nerve disorder";"522512";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive generalized epidermolysis bullosa simplex";"89838";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MUC1-related autosomal dominant tubulointerstitial kidney disease";"88949";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "UMOD-related autosomal dominant tubulointerstitial kidney disease";"88950";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare congenital non-syndromic heart malformation";"88991";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Esophageal malformation";"88993";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudohypoaldosteronism type 2C";"88940";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudohypoaldosteronism type 2B";"88939";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudohypoaldosteronism type 2A";"88938";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis";"88924";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Alport syndrome";"88918";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive Alport syndrome";"88919";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked Alport syndrome";"88917";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fragile X-associated tremor/ataxia syndrome";"93256";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Crouzon syndrome-acanthosis nigricans syndrome";"93262";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pfeiffer syndrome type 3";"93260";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pfeiffer syndrome type 2";"93259";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pfeiffer syndrome type 1";"93258";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short rib-polydactyly syndrome, Verma-Naumoff type";"93271";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short rib-polydactyly syndrome, Majewski type";"93269";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short rib-polydactyly syndrome, Saldino-Noonan type";"93270";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cloverleaf skull-multiple congenital anomalies syndrome";"93267";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short rib-polydactyly syndrome, Beemer-Langer type";"93268";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepimetaphyseal dysplasia, PAPSS2 type";"93282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepiphyseal dysplasia, Kimberley type";"93283";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis";"93279";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polyostotic fibrous dysplasia";"93276";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Monostotic fibrous dysplasia";"93277";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thanatophoric dysplasia type 2";"93274";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal dysplasia";"93108";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal hypoplasia";"93101";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Posterior urethral valve";"93110";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital megacalycosis";"93109";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypocalcemic vitamin D-resistant rickets";"93160";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transient pseudohypoaldosteronism";"93164";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E";"93114";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "HNF1B-related autosomal dominant tubulointerstitial kidney disease";"93111";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pauci-immune glomerulonephritis";"93126";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital bilateral megacalycosis";"93177";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal dysplasia, unilateral";"93172";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal dysplasia, bilateral";"93173";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unilateral congenital megacalycosis";"93176";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tibial hemimelia";"93322";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Radial hemimelia";"93321";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ulnar hemimelia";"93320";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Kenny-Caffey syndrome";"93325";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive Kenny-Caffey syndrome";"93324";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple epiphyseal dysplasia type 1";"93308";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple epiphyseal dysplasia type 5";"93311";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondylometaphyseal dysplasia, Kozlowski type";"93314";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondylometaphyseal dysplasia, 'corner fracture' type";"93315";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondylometaphyseal dysplasia, Schmidt type";"93316";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondylometaphyseal dysplasia, Sedaghatian type";"93317";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acral persistent papular mucinosis";"90396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Self-healing papular mucinosis";"90397";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Localized lichen myxedematosus with mixed features of different subtypes";"90398";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms";"90399";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nodular lichen myxedematosus";"90393";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Discrete papular lichen myxedematosus";"90394";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Papular mucinosis of infancy";"90395";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypotrichosis simplex of the scalp";"90368";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Telangiectasia macularis eruptiva perstans";"90389";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anonychia-onychodystrophy syndrome";"90390";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Stickler syndrome type 1";"90653";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Otopalatodigital syndrome type 2";"90652";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Stickler syndrome type 2";"90654";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Jervell and Lange-Nielsen syndrome";"90647";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Otopalatodigital syndrome type 1";"90650";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deafness-hypogonadism syndrome";"90646";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic genetic deafness";"90642";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare mitochondrial non-syndromic sensorineural deafness";"90641";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial thoracic aortic aneurysm and aortic dissection";"91387";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated cryptophthalmia";"91396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary angioedema";"91378";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired angioedema";"91385";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Marcus-Gunn syndrome";"91412";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital Horner syndrome";"91413";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated ankyloblepharon filiforme adnatum";"91397";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital ptosis";"91411";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Duplication of the esophagus";"91357";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pituitary deficiency due to empty sella turcica syndrome";"91354";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sheehan syndrome";"91355";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-specific interstitial pneumonia";"91364";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital esophageal diverticulum";"91358";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic pneumonitis of infancy";"91359";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Snowflake vitreoretinal degeneration";"91496";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Persistent hyperplastic primary vitreous";"91495";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macular coloboma-cleft palate-hallux valgus syndrome";"91494";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset non-syndromic cataract";"91492";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare urticaria";"79384";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unclassified genetic skin disorder";"79385";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Subcutaneous tissue disease";"79382";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mucopolysaccharidosis with skin involvement";"79388";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Premature aging";"79389";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare skin tumor or hamartoma";"79386";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metabolic disease with skin involvement";"79387";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare photodermatosis";"79390";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immune deficiency with skin involvement";"79391";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant generalized epidermolysis bullosa simplex, severe form";"79396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidermolysis bullosa simplex with mottled pigmentation";"79397";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital ichthyosiform erythroderma";"79394";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Keratoderma hereditarium mutilans with ichthyosis";"79395";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated nail anomaly";"79369";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nail anomaly";"79368";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic hair shaft abnormality";"79367";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated hair shaft abnormality";"79366";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ectodermal dysplasia syndrome";"79373";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sebaceous gland anomaly";"79372";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic nail anomaly";"79370";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dermis disorder";"79377";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypopigmentation of the skin";"79376";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperpigmentation of the skin";"79375";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pigmentation anomaly of the skin";"79374";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Other dermis disorder";"79381";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mixed dermis disorder";"79380";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Skin vascular disease";"79379";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dermis elastic tissue disorder";"79378";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Woolly hair nevus";"79414";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form";"79399";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement";"79401";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Localized epidermolysis bullosa simplex";"79400";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Junctional epidermolysis bullosa with pyloric atresia";"79403";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intermediate generalized junctional epidermolysis bullosa";"79402";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Junctional epidermolysis bullosa inversa";"79405";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Severe generalized junctional epidermolysis bullosa";"79404";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Late-onset junctional epidermolysis bullosa";"79406";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Recessive dystrophic epidermolysis bullosa inversa";"79409";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form";"79408";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Self-improving dystrophic epidermolysis bullosa";"79411";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Localized dystrophic epidermolysis bullosa, pretibial form";"79410";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Milroy disease";"79452";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked lethal multiple pterygium syndrome";"79447";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diffuse cutaneous mastocytosis";"79456";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maculopapular cutaneous mastocytosis";"79457";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cutaneous mastocytoma";"79455";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculocutaneous albinism type 4";"79435";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculocutaneous albinism type 1B";"79434";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculocutaneous albinism type 3";"79433";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculocutaneous albinism type 2";"79432";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculocutaneous albinism type 1A";"79431";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hermansky-Pudlak syndrome";"79430";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudopseudohypoparathyroidism";"79445";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudohypoparathyroidism type 1C";"79444";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudohypoparathyroidism type 1A";"79443";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Phakomatosis cesioflammea";"79483";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Phakomatosis cesiomarmorata";"79484";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Phakomatosis spilorosea";"79485";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Griscelli syndrome type 3";"79478";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pemphigus vegetans";"79479";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pemphigus erythematosus";"79480";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pemphigus foliaceus";"79481";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Griscelli syndrome type 2";"79477";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Griscelli syndrome type 1";"79476";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital bile acid synthesis defect type 3";"79302";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital bile acid synthesis defect type 2";"79303";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidermal appendage anomaly";"79362";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder with hypertrichosis";"79365";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alopecia";"79364";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Other epidermal disorder";"79359";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Porokeratosis";"79358";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inherited epidermolysis bullosa";"79361";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Other genetic epidermal disease";"79360";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Erythrokeratoderma";"79355";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ichthyosis";"79354";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary palmoplantar keratoderma";"79357";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acrokeratoderma";"79356";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form";"79351";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "3-phosphoserine phosphatase deficiency, infantile/juvenile form";"79350";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidermal disease";"79353";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chondrodysplasia punctata, tibial-metacarpal type";"79346";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chondrodysplasia punctata, Toriello type";"79347";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachytelephalangic chondrodysplasia punctata";"79345";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Singleton-Merten dysplasia";"85191";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metaphyseal dysplasia, Braun-Tinschert type";"85188";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic juvenile osteoporosis";"85193";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Calvarial doughnut lesions-bone fragility syndrome";"85192";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial expansile osteolysis";"85195";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondylo-ocular syndrome";"85194";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genochondromatosis type 1";"85197";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniosynostosis-anal anomalies-porokeratosis syndrome";"85199";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysspondyloenchondromatosis";"85198";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acropectoral syndrome";"85203";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Keutel syndrome";"85202";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Abidi type";"85273";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fetal Gaucher disease";"85212";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic X-linked intellectual disability 7";"85274";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microphthalmia-ankyloblepharon-intellectual disability syndrome";"85275";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Armfield type";"85276";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Cantagrel type";"85277";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Christianson syndrome";"85278";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "KDM5C-related syndromic X-linked intellectual disability";"85279";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome";"85280";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MEHMO syndrome";"85282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Miles-Carpenter type";"85283";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "BRESEK syndrome";"85284";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Schimke type";"85285";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Shashi type";"85286";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Siderius type";"85287";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Stocco Dos Santos type";"85288";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Cabezas type";"85293";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked spinocerebellar ataxia type 4";"85292";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Wilson type";"85290";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome";"85317";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked spinocerebellar ataxia type 3";"85297";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "HSD10 disease, atypical type";"85295";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked epilepsy-learning disabilities-behavior disorders syndrome";"85294";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Deafness-intellectual disability syndrome, Martin-Probst type";"85321";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-macrocephaly-macroorchidism syndrome";"85320";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome";"85319";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Stevenson type";"85325";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Shrimpton type";"85324";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Seemanova type";"85323";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Pai type";"85322";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome";"85329";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability, Stoll type";"85326";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-acromegaly-hyperactivity syndrome";"85327";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-retinitis pigmentosa syndrome";"85332";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked neurodegenerative syndrome, Hamel type";"85336";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked neurodegenerative syndrome, Bertini type";"85334";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fried syndrome";"85335";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oligoarticular juvenile idiopathic arthritis";"85410";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Systemic-onset juvenile idiopathic arthritis";"85414";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked intellectual disability-ataxia-apraxia syndrome";"85338";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis";"85408";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "AL amyloidosis";"85443";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short stature-pituitary and cerebellar defects-small sella turcica syndrome";"85442";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Wild type ABeta2M amyloidosis";"85446";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "AA amyloidosis";"85445";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Psoriasis-related juvenile idiopathic arthritis";"85436";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis";"85435";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Enthesitis-related juvenile idiopathic arthritis";"85438";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary cerebral hemorrhage with amyloidosis";"85458";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked reticulate pigmentary disorder";"85453";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked severe congenital neutropenia";"86788";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "DPAGT1-CDG";"86309";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "AGel amyloidosis";"85448";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ATTRV30M amyloidosis";"85447";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ATTRV122I amyloidosis";"85451";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary amyloidosis with primary renal involvement";"85450";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "POMT1-related limb-girdle muscular dystrophy R11";"86812";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Helicoid peripapillary chorioretinal degeneration";"86813";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign adult familial myoclonic epilepsy";"86814";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aplasia of lacrimal and salivary glands";"86815";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Patella aplasia/hypoplasia";"86789";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Localized lichen myxedematosus";"86795";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical lichen myxedematosus";"86797";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial avascular necrosis of femoral head";"86820";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lissencephaly type 3-familial fetal akinesia sequence syndrome";"86821";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lissencephaly type 3-metacarpal bone dysplasia syndrome";"86822";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lissencephaly with cerebellar hypoplasia";"86823";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital analbuminemia";"86816";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemolytic anemia due to adenylate kinase deficiency";"86817";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome";"86818";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atrichia with papular lesions";"86819";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute panmyelosis with myelofibrosis";"86843";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality";"86841";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Refractory anemia with excess blasts";"86839";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Refractory cytopenia with multilineage dysplasia";"86836";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile myelomonocytic leukemia";"86834";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic myeloproliferative disease, unclassifiable";"86830";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic neutrophilic leukemia";"86829";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Plasmacytoma";"86855";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Splenic marginal zone lymphoma";"86854";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "B-cell prolymphocytic leukemia";"86852";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute leukemia of ambiguous lineage";"86851";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myeloid sarcoma";"86850";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute basophilic leukemia";"86849";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Therapy related acute myeloid leukemia and myelodysplastic syndrome";"86846";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloid leukaemia with myelodysplasia-related features";"86845";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Nodal marginal zone B-cell lymphoma";"86867";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphomatoid granulomatosis";"86869";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Punctate palmoplantar keratoderma type 1";"79501";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune bullous skin disease";"79669";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Urogenital tract malformation";"83001";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive hyperinsulinism due to SUR1 deficiency";"79643";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mild hyperphenylalaninemia";"79651";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive hyperinsulinism due to Kir6.2 deficiency";"79644";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Scrub typhus";"83317";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proximal spinal muscular atrophy type 1";"83330";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Murine typhus";"83315";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudotyphus of California";"83316";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proximal spinal muscular atrophy type 3";"83419";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proximal spinal muscular atrophy type 4";"83420";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proximal spinal muscular atrophy type 2";"83418";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Boutonneuse fever";"83313";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidemic typhus";"83314";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rocky Mountain spotted fever";"83311";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rickettsialpox";"83312";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Desmoplastic small round cell tumor";"83469";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Solitary bone cyst";"83468";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Morvan syndrome";"83467";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Narcolepsy type 2";"83465";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "West-Nile encephalitis";"83476";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome";"83473";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CAMOS syndrome";"83472";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "T-cell immunodeficiency with thymic aplasia";"83471";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complex regional pain syndrome";"83452";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Florid cemento-osseous dysplasia";"83451";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Regional odontodysplasia";"83450";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microtia";"83463";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital primary aphakia";"83461";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glomuvenous malformation";"83454";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vulvovaginal gingival syndrome";"83453";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrostomia-preauricular tags-external ophthalmoplegia syndrome";"83619";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Enteric anendocrinosis";"83620";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "LUMBAR syndrome";"83628";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Steroid-responsive encephalopathy associated with autoimmune thyroiditis";"83601";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rubella panencephalitis";"83616";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome";"83617";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Eastern equine encephalitis";"83594";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Colorado tick fever";"83595";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute disseminated encephalomyelitis";"83597";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Encephalitis lethargica";"83600";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mycoplasma encephalitis";"83482";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "La Crosse encephalitis";"83483";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "St. Louis encephalitis";"83484";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Western equine encephalitis";"83593";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hinman syndrome";"84085";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Senior-Boichis syndrome";"84081";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fibronectin glomerulopathy";"84090";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Collagen type III glomerulopathy";"84087";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic diarrhea";"84064";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic malabsorption due to bile acid synthesis defects";"84065";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency";"83639";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome";"83629";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcytic anemia with liver iron overload";"83642";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypomyelination-congenital cataract syndrome";"85163";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Camptodactyly-tall stature-scoliosis-hearing loss syndrome";"85164";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurogenic scapuloperoneal syndrome, Kaeser type";"85146";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Facial onset sensory and motor neuronopathy";"85162";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Addison disease";"85138";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bothnia retinal dystrophy";"85128";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cystic leukoencephalopathy without megalencephaly";"85136";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial encephalopathy with neuroserpin inclusion bodies";"85110";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome";"85112";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Perineurioma";"85102";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Desmin-related myopathy with Mallory body-like inclusions";"84132";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isaacs syndrome";"84142";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary thermosensitive neuropathy";"84093";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Endosteal sclerosis-cerebellar hypoplasia syndrome";"85186";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniometadiaphyseal dysplasia, wormian bone type";"85184";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diaphyseal medullary stenosis-bone malignancy syndrome";"85182";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile osteopetrosis with neuroaxonal dysplasia";"85179";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Astley-Kendall dysplasia";"85175";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pseudodiastrophic dysplasia";"85174";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IMAGe syndrome";"85173";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microcephalic osteodysplastic dysplasia, Saul-Wilson type";"85172";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mesomelic dysplasia, Savarirayan type";"85170";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial digital arthropathy-brachydactyly";"85169";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniofacial conodysplasia";"85168";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome";"603448";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated female hypospadias";"603515";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome";"603494";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "KLHL7-related Bohring-Opitz-like syndrome";"603689";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome";"603684";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal anomaly";"98127";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Recessive KLHL7-related disorder";"603699";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "KLHL7-related Crisponi/cold-induced sweating-like syndrome";"603694";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal trisomy";"98130";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Total autosomal trisomy";"98131";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial autosomal duplication/triplication";"98132";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal uniparental disomy";"98152";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maternal uniparental disomy";"98153";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sex-chromosome number anomaly";"98156";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sex-chromosome structural anomaly";"98157";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paternal uniparental disomy";"98154";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sex-chromosome anomaly";"98155";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chromosome Y structural anomaly";"98158";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chromosome X structural anomaly";"98159";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Total autosomal monosomy";"98141";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial autosomal deletion";"98142";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare urinary tract tumor";"98058";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare digestive tumor";"98059";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare respiratory tumor";"98060";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare otorhinolaryngologic tumor";"98061";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic cardiac disease";"98054";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic renal disease";"98056";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare tumor";"98057";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome";"610573";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare nervous system tumor";"98062";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare gynecological tumor";"98063";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome";"610569";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Diaphragmatic or abdominal wall malformation";"98043";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Respiratory or mediastinal malformation";"98045";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Symptomatic form of X-linked centronuclear myopathy in female carriers";"604680";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Central nervous system malformation";"98044";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Digestive tract malformation";"98039";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cranial malformation";"98038";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Visceral malformation of the liver, biliary tract, pancreas or spleen";"98041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare allergic disease";"98050";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic disease";"98053";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare allergic respiratory disease";"98052";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare infertility";"98047";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare female infertility";"98049";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare male infertility";"98048";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue";"98086";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome with 46,XY difference of sex development";"98087";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive degenerative and progressive cerebellar ataxia";"98098";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive syndromic cerebellar ataxia";"98099";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive metabolic cerebellar ataxia";"98096";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cerebellar ataxia due to a DNA repair defect";"98097";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive congenital cerebellar ataxia";"98095";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pontocerebellar hypoplasia type 12";"611256";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hunter-McAlpine syndrome";"97340";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome";"611314";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Parkinsonism with polyneuropathy";"611237";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pontocerebellar hypoplasia type 11";"611247";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gonadal dysgenesis of gynecological interest";"98074";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aplastic anemia-intellectual disability-dwarfism syndrome";"611216";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "EN1-related dorsoventral syndrome";"611223";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculogastrointestinal-neurodevelopmental syndrome";"611201";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome";"611207";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pontocerebellar hypoplasia type 13";"613267";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XY difference of sex development";"98085";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pontocerebellar hypoplasia type 14";"613274";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability";"611327";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "46,XX difference of sex development induced by androgens excess";"98078";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic encephalitis";"98255";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile epilepsy syndrome";"98258";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal epilepsy syndrome";"98257";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adolescent-onset epilepsy syndrome";"98260";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Childhood-onset epilepsy syndrome";"98259";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive myoclonic epilepsy";"98261";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ehlers-Danlos syndrome";"98249";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Legionellosis";"600832";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infectious encephalitis";"98252";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome";"600668";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance";"600663";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined deficiency of factor VII and factor X";"600691";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Clark-Baraitser syndrome";"600731";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency-associated lymphoproliferative disease";"98290";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dendritic cell tumor";"98289";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macrophage or histiocytic tumor";"98288";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Histiocytic and dendritic cell tumor";"98287";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hodgkin lymphoma";"98293";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mastocytosis";"98292";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphoproliferative disease associated with primary immune disease";"98291";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Plasma cell tumor";"98282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myeloproliferative neoplasm";"98274";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloid leukemia with recurrent genetic anomaly";"98277";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myelodysplastic/myeloproliferative disease";"98275";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic non-syndromic obesity";"98267";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malformation syndrome with hamartosis";"98196";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic anorectal malformation with rectovaginal fistula";"601028";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic anorectal malformation with H-type fistula";"601033";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic anorectal malformation with anal stenosis";"601008";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic anorectal malformation with pouch colon";"601013";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic anorectal malformation with rectal atresia";"601018";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital myopathy";"97245";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rigid spine syndrome";"97244";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital muscular dystrophy";"97242";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "GRFoma";"97261";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuroendocrine tumor of pancreas";"97253";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mega-cisterna magna";"97252";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pontocerebellar hypoplasia type 3";"97249";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Insulinoma";"97279";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PPoma";"97278";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Encephalitis";"97275";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thyroid lymphoma";"97285";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Somatostatinoma";"97283";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "VIPoma";"97282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glucagonoma";"97280";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thymic neuroendocrine tumor";"97289";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial papillary thyroid carcinoma with renal papillary neoplasia";"97290";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carney-Stratakis syndrome";"97286";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bronchial neuroendocrine tumor";"97287";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare benign ovarian tumor";"97293";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cardiogenic shock";"97292";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kienbock disease";"97332";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Osgood-Schlatter disease";"97335";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bohring-Opitz syndrome";"97297";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thoracic outlet syndrome";"97330";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Melanoma of soft tissue";"97338";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dural sinus malformation";"97339";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Panner disease";"97336";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sinding-Larsen-Johansson disease";"97337";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maternal uniparental disomy of chromosome 9";"96183";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7";"96182";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maternal uniparental disomy of chromosome 6";"96181";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maternal uniparental disomy of chromosome 4";"96180";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maternal uniparental disomy of chromosome 2";"96179";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 16 syndrome";"96178";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 15 syndrome";"96177";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ring chromosome 13 syndrome";"96176";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paternal uniparental disomy of chromosome 6";"96191";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paternal uniparental disomy of chromosome 5";"96190";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maternal uniparental disomy of chromosome 22";"96188";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maternal uniparental disomy of chromosome 21";"96187";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maternal uniparental disomy of chromosome 20";"96186";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maternal uniparental disomy of chromosome 16";"96185";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Temple syndrome due to maternal uniparental disomy of chromosome 14";"96184";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paternal uniparental disomy of chromosome 20";"96194";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paternal uniparental disomy of chromosome 21";"96195";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paternal uniparental disomy of chromosome 7";"96192";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11";"96193";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Somatotropic adenoma";"96256";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic deafness";"96210";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cushing disease";"96253";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X small rings";"96201";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polyploidy";"96321";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated partial vaginal agenesis";"96269";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "49,XXXXY syndrome";"96264";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "48,XXXY syndrome";"96263";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leydig cell hypoplasia due to partial LH resistance";"96266";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leydig cell hypoplasia due to complete LH resistance";"96265";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare gynecologic or obstetric disease";"96344";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anorectal malformation";"96346";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isochromosome Y";"96325";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14";"96334";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare otorhinolaryngological malformation";"96333";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal arthrogryposis";"97120";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Eisenmenger syndrome";"97214";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to phosphoglycerate mutase deficiency";"97234";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rippling muscle disease";"97238";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Reducing body myopathy";"97239";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Zebra body myopathy";"97240";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Riboflavin transporter deficiency";"97229";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Solar urticaria";"97230";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fingerprint body myopathy";"97232";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic isolated micropenis";"95707";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare precocious puberty";"95708";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic posterior hypospadias";"95706";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked adrenal hypoplasia congenita";"95702";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies";"95715";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial thyroid dyshormonogenesis";"95716";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Athyreosis";"95713";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary congenital hypothyroidism without thyroid developmental anomaly";"95714";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital hypothyroidism due to developmental anomaly";"95711";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thyroid ectopia";"95712";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired premature ovarian failure";"95709";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-acquired premature ovarian failure";"95710";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Post-traumatic pituitary deficiency";"95619";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pituitary hormone deficiency secondary to storage disease";"95618";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pituitary hormone deficiency secondary to a granulomatous disease";"95617";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pituitary apoplexy";"95613";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial adrenal hypoplasia with absent pituitary luteinizing hormone";"95700";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency";"95699";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired central diabetes insipidus";"95626";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pituitary hormone deficiency of meningeal origin";"95505";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary hypophysitis";"95506";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital anomaly of hepatic vein";"95507";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital anomaly of the coronary sinus";"95500";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired pituitary hormone deficiency";"95502";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pituitary hormone deficiency of tumoral origin";"95503";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenohypophysitis";"95512";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Panhypophysitis";"95513";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder with lens opacification";"98640";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pituitary hormone deficiency of vascular origin";"95611";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atrial appendage anomaly";"95510";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-acquired pituitary hormone deficiency";"95488";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital coronary artery aneurysm";"95491";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arterial duct anomaly";"95485";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Premature closure of the arterial duct";"95486";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pituitary stalk interruption syndrome";"95496";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital anomaly of the inferior vena cava";"95499";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital anomaly of superior vena cava";"95498";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Disease associated with non-acquired combined pituitary hormone deficiency";"95495";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined pituitary hormone deficiencies, genetic forms";"95494";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mesocardia";"95443";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital aortic valve atresia";"95448";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome";"95433";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive cerebellar ataxia-movement disorder syndrome";"95434";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tricuspid valve agenesis";"95457";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum";"95455";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Accessory tricuspid valve tissue";"95462";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anomaly of the tricuspid subvalvular apparatus";"95463";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital tricuspid stenosis";"95459";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Straddling or overriding tricuspid valve";"95461";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Double-orifice mitral valve";"95474";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Univentricular cardiopathy";"95483";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital mitral valve insufficiency and/or stenosis";"95464";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleft mitral valve";"95465";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute hepatic porphyria";"95157";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lissencephaly due to LIS1 mutation";"95232";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic hepatic porphyria";"95161";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hepatoerythropoietic porphyria";"95159";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "COG8-CDG";"95428";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary short bowel syndrome";"95427";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute adrenal insufficiency";"95409";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary progressive aphasia";"95432";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Twin to twin transfusion syndrome";"95431";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital tracheomalacia";"95430";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Angioma serpiginosum";"95429";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mills syndrome";"94091";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuroleptic malignant syndrome";"94093";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerebellar ataxia, Cayman type";"94122";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia with axonal neuropathy type 1";"94124";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Recessive mitochondrial ataxia syndrome";"94125";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant cerebellar ataxia type I";"94145";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 7";"94147";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome";"597623";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic renal or urinary tract malformation";"93547";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic renal or urinary tract malformation";"93546";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculocutaneous albinism type 8";"597733";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Luscan-Lumish syndrome";"597738";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glomerular disease";"93548";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal or urinary tract malformation";"93545";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ALPI-related inflammatory bowel disease";"597887";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mixed cryoglobulinemia type III";"93555";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mixed cryoglobulinemia type II";"93554";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Light and heavy chain deposition disease";"93557";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Euthyroid dysprealbuminemic hyperthyroxinemia";"597939";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Heavy chain deposition disease";"93556";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome";"597743";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome";"597746";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "KAT6B-related multiple congenital anomalies syndrome";"597749";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pediatric systemic lupus erythematosus";"93552";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome";"597874";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "AFib amyloidosis";"93562";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Upper tract urothelial carcinoma";"598216";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome";"598603";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multisystem inflammatory syndrome in children and adults";"598363";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Light chain deposition disease";"93558";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic cataract";"98641";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "FOXG1 syndrome due to intragenic alteration";"598164";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "AApoAI amyloidosis";"93560";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ALys amyloidosis";"93561";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dense deposit disease";"93571";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thrombotic microangiopathy";"93573";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile polymyositis";"93568";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polymyalgia rheumatica";"93569";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lysosomal storage disease with skeletal involvement";"93448";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "TRIM22-related inflammatory bowel disease";"597201";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cleidocranial dysplasia and isolated cranial ossification defect";"93451";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary bone dysplasia with disorganized development of skeletal components";"93450";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary osteolysis";"93449";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lethal chondrodysplasia";"93465";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chromosomal disease with overgrowth";"93461";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome with synostosis or other joint formation defect";"93459";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Overgrowth syndrome";"93460";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic limb reduction defect";"93457";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic polydactyly, syndactyly and/or hyperphalangy";"93458";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Scheie syndrome";"93474";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hurler-Scheie syndrome";"93476";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hurler syndrome";"93473";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile sialidosis type 2";"93399";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genochondromatosis type 2";"93398";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital sialidosis type 2";"93400";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndactyly type 2";"93403";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndactyly type 1";"93402";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndactyly type 4";"93405";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndactyly type 3";"93404";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndactyly type 5";"93406";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly-syndactyly, Zhao type";"93409";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare bone disease";"93419";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Type 2 collagen-related bone disorder";"93421";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "FGFR3-related chondrodysplasia";"93420";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Type 11 collagen-related bone disorder";"93422";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sulfation-related bone disorder";"93423";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Perlecan-related bone disorder";"93424";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Filamin-related bone disorder";"93425";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ciliopathies with major skeletal involvement";"93426";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple epiphyseal dysplasia and pseudoachondroplasia";"93429";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple metaphyseal dysplasia";"93430";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondylodysplastic dysplasia";"93434";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acromelic dysplasia";"93436";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acromesomelic dysplasia";"93437";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mesomelic and rhizo-mesomelic dysplasia";"93438";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Campomelic dysplasia and related disorders";"93439";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Slender bone dysplasia";"93440";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type";"93360";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome";"93358";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hypocalciuric hypercalcemia type 1";"93372";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly type A6";"93382";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly type B";"93383";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly type E";"93387";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly type A1";"93388";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly type C";"93384";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly type A2";"93396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly type A7";"93397";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brachydactyly type A4";"93394";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidermolysis bullosa simplex with extracutaneous involvement";"595351";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epidermolysis bullosa simplex without extracutaneous involvement";"595346";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fibrous dysplasia/McCune-Albright syndrome";"595216";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Midline interhemispheric variant of holoprosencephaly";"93926";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lobar holoprosencephaly";"93924";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alobar holoprosencephaly";"93925";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Full schwannomatosis";"93921";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical Timothy syndrome";"595109";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Perivascular epithelioid cell neoplasm";"595133";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Timothy syndrome type 1";"595098";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Timothy syndrome type 2";"595105";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Interventricular septum aneurysm";"99092";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laubry-Pezzi syndrome";"99094";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coronary ostial stenosis or atresia";"99087";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Abnormal number of coronary ostia";"99089";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malposition of a coronary ostium";"99090";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary artery hypoplasia";"99083";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Peripheral pulmonary stenosis";"99084";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cervical aortic arch";"99079";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Right aortic arch";"99081";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysphagia lusoria";"99082";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Persistent fifth aortic arch";"99076";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Encircling double aortic arch";"99075";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuhauser anomaly";"99078";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kommerell diverticulum";"99077";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital patent ductus arteriosus aneurysm";"99072";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aorto-left ventricular tunnel";"99071";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complete atrioventricular septal defect-tetralogy of Fallot";"99068";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complete atrioventricular septal defect with ventricular hypoplasia";"99067";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aorto-right ventricular tunnel";"99070";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Straddling and/or overriding mitral valve";"99064";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Shone complex";"99063";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital total pulmonary venous return anomaly";"99125";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital pulmonary vein atresia";"99126";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inferior vena cava interruption without azygos continuation";"99123";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital partial pulmonary venous return anomaly";"99124";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Azygos continuation of the inferior vena cava";"99121";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital stenosis of the inferior vena cava";"99122";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Right inferior vena cava connecting to left-sided atrium";"99119";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Persistent eustachian valve";"99120";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coronary sinus stenosis";"99117";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coronary sinus atresia";"99118";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Subaortic course of innominate vein";"99113";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Agenesis of the superior vena cava";"99114";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Persistent left superior vena cava connecting to the roof of left-sided atrium";"99111";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Absence of innominate vein";"99112";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Right superior vena cava connecting to left-sided atrium";"99110";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Persistent left superior vena cava connecting through coronary sinus to left-sided atrium";"99109";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atrial septal aneurysm";"99107";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atrial septal defect, ostium primum type";"99106";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atrial septal defect, sinus venosus type";"99105";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atrial septal defect, coronary sinus type";"99104";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atrial septal defect, ostium secundum type";"99103";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ectasia of the left atrial appendage";"99102";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ectasia of the right atrial appendage";"99101";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juxtaposition of the atrial appendages";"99100";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cor triatriatum sinister";"99099";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cor triatriatum dexter";"99098";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital Gerbode defect";"99095";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired von Willebrand syndrome";"99147";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "6-phosphogluconate dehydrogenase deficiency";"99135";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction";"99138";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute transverse myelitis with anti-MOG antibodies";"592873";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated optic neuritis without anti-MOG antibodies";"592885";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated melanotic schwannoma";"590539";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital-onset Steinert myotonic dystrophy";"589821";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inherited gynecological cancer-predisposing syndrome";"589746";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile-onset Steinert myotonic dystrophy";"589827";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Childhood-onset Steinert myotonic dystrophy";"589824";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Late-onset Steinert myotonic dystrophy";"589833";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult-onset Steinert myotonic dystrophy";"589830";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome";"589905";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome";"589856";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical progressive supranuclear palsy syndrome";"99750";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Kostmann syndrome";"99749";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pontiac fever";"99748";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Embryonal rhabdomyosarcoma";"99757";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alveolar rhabdomyosarcoma";"99756";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myotonia fluctuans";"99734";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sulfite oxidase deficiency due to molybdenum cofactor deficiency";"99732";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myotonia permanens";"99735";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acetazolamide-responsive myotonia";"99736";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "King-Denborough syndrome";"99741";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amish lethal microcephaly";"99742";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare familial disorder with hypertrophic cardiomyopathy";"99739";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Typhoid";"99745";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial focal epilepsy with variable foci";"98820";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial temporal lobe epilepsy";"98819";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Landau-Kleffner syndrome";"98818";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign childhood occipital epilepsy, Gastaut type";"98816";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Benign childhood occipital epilepsy, Panayiotopoulos type";"98815";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypohidrotic ectodermal dysplasia with immunodeficiency";"98813";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paroxysmal exertion-induced dyskinesia";"98811";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paroxysmal non-kinesigenic dyskinesia";"98810";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paroxysmal kinesigenic dyskinesia";"98809";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant dopa-responsive dystonia";"98808";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary dystonia, DYT13 type";"98807";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary mediastinal large B-cell lymphoma";"98838";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute undifferentiated leukemia";"98835";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloblastic leukemia without maturation";"98833";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloblastic leukemia with maturation";"98834";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloid leukemia with 11q23 abnormalities";"98831";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloid leukemia with minimal differentiation";"98832";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16";"98829";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unclassified myelodysplastic syndrome";"98827";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Unclassified myelodysplastic/myeloproliferative disease";"98825";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Refractory anemia";"98826";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic myelomonocytic leukemia";"98823";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atypical chronic myeloid leukemia";"98824";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Desquamative interstitial pneumonia";"98852";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mast cell leukemia";"98851";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Emery-Dreifuss muscular dystrophy";"98853";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Indolent systemic mastocytosis";"98848";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aggressive systemic mastocytosis";"98850";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Systemic mastocytosis with associated hematologic neoplasm";"98849";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic Hodgkin lymphoma, mixed cellularity type";"98844";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic Hodgkin lymphoma, nodular sclerosis type";"98843";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic Hodgkin lymphoma, lymphocyte-depleted type";"98846";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic Hodgkin lymphoma, lymphocyte-rich type";"98845";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intravascular large B-cell lymphoma";"98839";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lymphomatoid papulosis";"98842";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anaplastic large cell lymphoma";"98841";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies";"589608";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mixed phenotype acute leukemia with t(v";"589595";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Southeast Asian ovalocytosis";"98868";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bleeding diathesis due to integrin alpha2-beta1 deficiency";"98886";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bleeding diathesis due to glycoprotein VI deficiency";"98885";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital dyserythropoietic anemia type II";"98873";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary acquired pure red cell aplasia";"98872";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transient erythroblastopenia of childhood";"98871";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculopharyngodistal myopathy";"98897";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Becker muscular dystrophy";"98895";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Duchenne muscular dystrophy";"98896";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amish nemaline myopathy";"98902";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bilateral perisylvian polymicrogyria";"98889";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset X-linked optic atrophy";"98890";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked complex spastic paraplegia";"98888";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital muscular dystrophy type 1B";"98893";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Periventricular nodular heterotopia";"98892";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Late-onset distal myopathy, Markesbery-Griggs type";"98912";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Distal myotilinopathy";"98911";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Presynaptic congenital myasthenic syndromes";"98914";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Postsynaptic congenital myasthenic syndromes";"98913";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute inflammatory demyelinating polyradiculoneuropathy";"98916";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Synaptic congenital myasthenic syndromes";"98915";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute motor axonal neuropathy";"98918";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute motor and sensory axonal neuropathy";"98917";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital myopathy with excess of thin filaments";"98904";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital multicore myopathy with external ophthalmoplegia";"98905";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neutral lipid storage myopathy";"98908";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neutral lipid storage disease with ichthyosis";"98907";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-crystallinopathy";"98910";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Desminopathy";"98909";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple system atrophy, parkinsonian type";"98933";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Huntington disease-like 2";"98934";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Miller Fisher syndrome";"98919";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinal muscular atrophy with respiratory distress type 1";"98920";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Blake pouch cyst";"98922";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coloboma of choroid and retina";"98942";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Colobomatous microphthalmia";"98938";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complete cryptophthalmia";"98949";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Partial cryptophthalmia";"98950";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coloboma of optic disc";"98947";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital symblepharon";"98948";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coloboma of macula";"98945";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coloboma of eyelid";"98946";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coloboma of eye lens";"98943";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coloboma of iris";"98944";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Climatic droplet keratopathy";"98958";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gelatinous drop-like corneal dystrophy";"98957";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Epithelial basement membrane dystrophy";"98956";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lisch epithelial corneal dystrophy";"98955";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Meesmann corneal dystrophy";"98954";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inverse Marcus-Gunn phenomenon";"98951";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lattice corneal dystrophy type I";"98964";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Granular corneal dystrophy type II";"98963";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Granular corneal dystrophy type I";"98962";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Reis-Bücklers corneal dystrophy";"98961";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thiel-Behnke corneal dystrophy";"98960";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Subepithelial mucinous corneal dystrophy";"98959";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Posterior amorphous corneal dystrophy";"98971";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Central cloudy dystrophy of François";"98972";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Posterior polymorphous corneal dystrophy";"98973";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fuchs endothelial corneal dystrophy";"98974";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Schnyder corneal dystrophy";"98967";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Macular corneal dystrophy";"98969";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fleck corneal dystrophy";"98970";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chandler syndrome";"98979";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cogan-Reese syndrome";"98980";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Essential iris atrophy";"98981";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital hereditary endothelial dystrophy type I";"98975";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital glaucoma";"98976";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Juvenile glaucoma";"98977";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Axenfeld anomaly";"98978";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset anterior polar cataract";"98988";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Coralliform cataract";"98990";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cerulean cataract";"98989";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulverulent cataract";"98984";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset sutural cataract";"98985";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset zonular cataract";"98995";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset partial cataract";"98992";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset nuclear cataract";"98991";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Total early-onset cataract";"98994";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset posterior polar cataract";"98993";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Butterfly-shaped pigment dystrophy";"99001";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Reticular dystrophy of the retinal pigment epithelium";"99002";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adult-onset foveomacular vitelliform dystrophy";"99000";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "B-lymphoblastic leukemia/lymphoma with t(1";"585956";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "B-lymphoblastic leukemia/lymphoma with t(5";"585948";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Sporadic fatal insomnia";"586130";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital unguarded mitral orifice";"99060";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital supravalvular mitral ring";"99059";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitral valve agenesis";"99062";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Accessory mitral valve tissue";"99061";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lacrimal drainage system anomaly";"98605";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic orbital border hypoplasia";"98606";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital alacrima";"98604";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare eyebrow/eyelash disorder";"98594";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic telecanthus";"98575";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic outer canthal malposition";"98576";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder with ptosis";"98578";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare eyelid malposition disorder";"98567";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital ectropion";"98570";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary ectropion";"98571";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic epicanthus";"98574";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare palpebral disorder";"98560";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cryptophthalmia";"98562";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital malformation of the eyelid";"98561";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Eyelid border anomaly";"98564";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microblepharon-ablephara syndrome";"98563";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic eyelid coloboma";"98566";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic ankyloblepharon filiforme adnatum";"98565";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Developmental defect of the eye";"98553";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Microphthalmia-anophthalmia-coloboma";"98555";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic aniridia";"98557";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Musculoskeletal disease with cataract";"98648";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metabolic disease with cataract";"98644";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renal disease with cataract";"98646";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare lens disease";"98639";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chromosomal anomaly with cataract";"98642";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Corneodysgenesis";"98635";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disease with glaucoma as a major feature";"98638";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital malformation of the eye with glaucoma as a major feature";"98631";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anterior segment developmental anomaly without extraocular manifestations";"98634";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic corneal dystrophy";"98628";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Posterior corneal dystrophy";"98627";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic keratoconus";"98623";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Stromal corneal dystrophy";"98626";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Superficial corneal dystrophy";"98625";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare isolated myopia";"98619";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic hyperopia";"98622";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hyperopia and astigmatism";"98621";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare refraction anomaly";"98618";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency";"583602";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency";"583607";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Serine biosynthesis pathway deficiency, infantile/juvenile form";"583595";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency";"583612";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated splenic vein thrombosis";"583856";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aortic malformation";"98718";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Uveitis";"98715";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Heart position anomaly";"98716";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital tricuspid malformation";"98721";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atrioventricular septal defect";"98722";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary artery or pulmonary branch anomaly";"98719";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Atrioventricular valve anomaly";"98720";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ascending aorta anomaly";"98725";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypoplastic right heart syndrome";"98723";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital anomaly of the great arteries";"98724";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculocutaneous or ocular albinism";"98706";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder with strabismus";"98681";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic disorder with strabismus";"98683";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Craniostenosis with strabismus";"98684";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare oculomotor nerve disorder";"98685";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital trochlear nerve palsy";"98686";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Supranuclear eye movement disorder";"98687";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Oculomotor apraxia";"98688";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isochromosomy Yq";"98798";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isochromosomy Yp";"98797";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Angelman syndrome due to paternal uniparental disomy of chromosome 15";"98795";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Angelman syndrome due to maternal 15q11q13 deletion";"98794";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Prader-Willi syndrome due to paternal 15q11q13 deletion";"98793";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16";"98791";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary dystonia, DYT6 type";"98806";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary dystonia, DYT4 type";"98805";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant nocturnal frontal lobe epilepsy";"98784";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 27";"98764";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 14";"98763";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 5";"98766";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 4";"98765";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 8";"98760";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 17";"98759";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 12";"98762";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 10";"98761";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 19/22";"98772";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 18";"98771";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 21";"98773";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 13";"98768";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 11";"98767";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 15/16";"98769";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect";"98747";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect";"98748";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect";"98749";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune neurological channelopathy";"98750";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic neurological channelopathy of the central nervous system";"98743";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurological channelopathy of the central nervous system due to a genetic sodium channel defect";"98744";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurological channelopathy of the central nervous system due to a genetic calcium channel defect";"98745";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurological channelopathy of the central nervous system due to a genetic potassium channel defect";"98746";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired neuromuscular junction disease";"98494";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "QRSL1-related combined oxidative phosphorylation defect";"570491";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuromuscular junction disease";"98491";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ricin poisoning";"570470";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "HHV-8-associated multicentric Castleman disease";"570438";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic multicentric Castleman disease";"570431";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Galactose mutarotase deficiency";"570422";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bartter syndrome type 5";"570371";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic peripheral neuropathy";"98497";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic neuromuscular junction disease";"98495";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare peripheral neuropathy";"98496";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired motor neuron disease";"98506";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic motor neuron disease";"98505";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Motor neuron disease";"98503";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cranial nerve and nuclear aplasia";"98518";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malformation of the cerebellar hemispheres";"98516";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malformation of the cerebellar vermis";"98514";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic anorectal malformation";"117573";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myopathic intestinal pseudoobstruction";"104077";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leiomyosarcoma of small intestine";"104076";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adenocarcinoma of the small intestine";"104075";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Metabolic disease with intestinal involvement";"104013";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare inflammatory bowel disease";"104012";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare tumor of intestine";"104011";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intestinal polyposis syndrome";"104010";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disease involving intestinal motility";"104009";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Short bowel syndrome";"104008";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital enteropathy involving intestinal mucosa development";"104007";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital intestinal disease due to an enzymatic defect";"104006";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intestinal disease due to fat malabsorption";"104005";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intestinal disease due to vitamin absorption anomaly";"104004";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital intestinal transport defect";"104003";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Undetermined colitis";"103920";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autoimmune pancreatitis";"103919";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tropical pancreatitis";"103918";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital enterocyte heparan sulfate deficiency";"103910";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital sodium diarrhea";"103908";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Trehalase deficiency";"103909";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic diarrhea due to glucoamylase deficiency";"103907";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloid leukemia with t(8";"102724";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent";"102379";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor";"102381";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic limb malformation";"109011";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome with limb malformations as a major feature";"109009";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare intestinal disease";"117569";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Arthrogryposis syndrome";"109007";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndromic respiratory or mediastinal malformation";"108995";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic respiratory or mediastinal malformation";"108993";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare disorder due to toxic effects";"108999";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare anemia";"108997";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Syndrome with a central nervous system malformation as a major feature";"108991";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic central nervous system malformation";"108989";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Periodic fever syndrome";"101995";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency due to a complement cascade protein anomaly";"101992";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare epilepsy";"101998";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary immunodeficiency";"101997";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare ataxia";"102002";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare movement disorder";"102003";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Medullar disease";"102000";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurovascular malformation";"102006";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Brain inflammatory disease";"102005";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunodeficiency predominantly affecting antibody production";"101977";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Constitutional neutropenia";"101987";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Quantitative and/or qualitative congenital phagocyte defect";"101985";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary immunodeficiency due to a defect in innate immunity";"101988";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classic lissencephaly";"102009";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lissencephaly type 3";"102011";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Other syndrome with lissencephaly as a major feature";"102010";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Complex hereditary spastic paraplegia";"102013";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pure hereditary spastic paraplegia";"102012";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive limb-girdle muscular dystrophy";"102015";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant limb-girdle muscular dystrophy";"102014";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal monosomy";"102020";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic cardiac rhythm disease";"101934";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anomaly of the mitral subvalvular apparatus";"101932";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare non-syndromic intellectual disability";"101685";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hepatic and biliary tract tumor";"101943";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare metabolic liver disease";"101940";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare biliary tract disease";"101941";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare vascular liver disease";"101938";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare parenchymal liver disease";"101939";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare gastroesophageal disease";"101936";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare pancreatic disease";"101937";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial isolated congenital asplenia";"101351";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic eye disease";"101435";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare urogenital disease";"101433";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic chronic primary adrenal insufficiency";"101960";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired chronic primary adrenal insufficiency";"101963";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Combined T and B cell immunodeficiency";"101972";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare eye tumor";"101950";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare bronchopulmonary tumor";"101945";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare pulmonary disease";"101944";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pituitary deficiency";"101957";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Polyendocrinopathy";"101956";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic primary adrenal insufficiency";"101959";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary adrenal insufficiency";"101958";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare dyslipidemia";"101953";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare diabetes mellitus";"101952";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare thyroid disease";"101955";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare adrenal disease";"101954";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive dopa-responsive dystonia";"101150";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 25";"101111";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 26";"101112";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 28";"101109";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 20";"101110";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 23";"101108";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "African tick typhus";"101334";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Porphyria cutanea tarda";"101330";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome";"101206";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 1F";"101085";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked hyper-IgM syndrome";"101088";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 1A";"101081";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 1B";"101082";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 1C";"101083";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 1D";"101084";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked Charcot-Marie-Tooth disease type 3";"101077";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked Charcot-Marie-Tooth disease type 4";"101078";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked Charcot-Marie-Tooth disease type 1";"101075";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked Charcot-Marie-Tooth disease type 2";"101076";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 2H";"101102";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 2B2";"101101";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Marin-Amat syndrome";"101104";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness";"101097";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Aregenerative anemia";"101096";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyper-IgM syndrome type 3";"101090";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyper-IgM syndrome type 2";"101089";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyper-IgM syndrome type 5";"101092";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyper-IgM syndrome type 4";"101091";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hypocalciuric hypercalcemia type 2";"101049";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hypocalciuric hypercalcemia type 3";"101050";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital aortic valve dysplasia";"101043";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hypofibrinogenemia";"101041";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant epilepsy with auditory features";"101046";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 3";"100984";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive pure spastic paraplegia";"100982";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive complex spastic paraplegia";"100981";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant pure spastic paraplegia";"100980";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant complex spastic paraplegia";"100979";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cloverleaf skull-asphyxiating thoracic dysplasia syndrome";"100978";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 10";"100991";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 8";"100989";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 6";"100988";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 5A";"100986";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 4";"100985";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked spastic paraplegia type 16";"100997";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 14";"100995";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 15";"100996";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 12";"100993";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 13";"100994";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare thyroid carcinoma";"100088";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adrenal/paraganglial tumor";"100091";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare parathyroid tumor";"100090";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary hepatic neuroendocrine carcinoma";"100085";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Middle ear neuroendocrine tumor";"100084";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare thyroid tumor";"100087";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gallbladder neuroendocrine tumor";"100086";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuroendocrine tumor with other location";"100101";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thymic tumor";"100100";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Carcinoid syndrome";"100093";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gastroenteropancreatic neuroendocrine neoplasm";"100092";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple polyglandular tumor";"100094";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Porphyria due to ALA dehydratase deficiency";"100924";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "FRAXE intellectual disability";"100973";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "FRAXF syndrome";"100974";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bathing suit ichthyosis";"100976";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "F12-related hereditary angioedema with normal C1Inh";"100054";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary angioedema type 2";"100051";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Renin-angiotensin-aldosterone system-blocker-induced angioedema";"100057";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired angioedema type 1";"100056";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acquired angioedema type 2";"100055";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Semantic dementia";"100069";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Progressive non-fluent aphasia";"100070";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Waterhouse-Friderichsen syndrome";"100067";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurogenic thoracic outlet syndrome";"100073";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuroendocrine tumor of stomach";"100075";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic trisomy 3";"100071";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ileal neuroendocrine tumor";"100078";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuroendocrine neoplasm of appendix";"100079";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Duodenal neuroendocrine tumor";"100076";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Jejunal neuroendocrine tumor";"100077";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuroendocrine tumor of anal canal";"100082";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Laryngeal neuroendocrine tumor";"100083";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuroendocrine tumor of the colon";"100080";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuroendocrine tumor of the rectum";"100081";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Refractory anemia with excess blasts type 2";"100020";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Refractory anemia with excess blasts type 1";"100019";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extramedullary soft tissue plasmacytoma";"100022";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary plasmacytoma of the bone";"100021";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mu-heavy chain disease";"100024";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gamma-heavy chain disease";"100026";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Alpha-heavy chain disease";"100025";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypocalcified amelogenesis imperfecta";"100032";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypoplastic amelogenesis imperfecta";"100031";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism";"100034";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hypomaturation amelogenesis imperfecta";"100033";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Solitary necrotic nodule of the liver";"100035";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A";"100043";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B";"100044";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C";"100045";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D";"100046";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Esophageal duplication cyst";"100047";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Tubular duplication of the esophagus";"100048";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies";"100049";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary angioedema type 1";"100050";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lissencephaly with cerebellar hypoplasia type F";"100016";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lissencephaly with cerebellar hypoplasia type E";"100015";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mandibuloacral dysplasia associated to MTX2";"647667";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Multiple epiphyseal dysplasia type 7";"647676";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intermediate collagen VI-related muscular dystrophy";"646113";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lissencephaly with cerebellar hypoplasia type B";"100012";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Proximal femoral focal deficiency";"633228";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome";"646278";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary tuberculosis of the digestive system";"645859";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary genito-urinary tuberculosis";"645874";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Collagen VI-related congenital muscular dystrophy";"646098";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary tuberculous lymphadenitis";"645807";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary pulmonary tuberculosis";"645814";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary bone and joint tuberculosis";"645822";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary cutaneous tuberculosis";"645849";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Congenital esophageal stenosis";"645749";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spontaneous intestinal perforation";"645793";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Amyopathic dermatomyositis";"645617";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Classical dermatomyositis";"645613";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Adermatopathic dermatomyositis";"645626";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemi-myeloschisis";"645393";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hemi-myelomeningocele";"645388";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "True myeloschisis";"645401";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myeloschisis";"645398";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Conus spinal cord lipoma";"645367";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dorsal spinal cord lipoma";"645362";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "True myelomeningocele";"645383";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Myelic limited dorsal malformation";"645378";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Saccular limited dorsal myeloschisis";"645354";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intramedullary non-dysraphic spinal cord lipoma";"645359";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-saccular limited dorsal myeloschisis";"645343";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Segmental arterial mediolysis";"645350";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Terminal myelocystocele";"645337";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-terminal myelocystocele";"645340";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated filum lipoma";"645325";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Retained medullary cord";"645334";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Saccular spinal dysraphism with a stalk to the dome";"645319";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated transitional filum lipoma";"645322";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Lipomatous non-saccular limited dorsal myeloschisis";"645300";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fibroneural non-saccular limited dorsal myeloschisis";"645310";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Posterior extramedullary conus spinal cord lipoma";"645294";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extramedullary conus spinal cord lipoma";"645297";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Terminal extramedullary conus spinal cord lipoma";"645288";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transitional extramedullary conus spinal cord lipoma";"645291";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chaotic conus spinal cord lipoma";"645285";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Anomaly of the filum";"645282";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Fibrolipomatous filum anomaly";"645279";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinal cord lipoma";"645276";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysraphic spinal cord lipoma";"645273";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Open spinal dysraphism with a posterior meningocele";"645270";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Closed spinal dysraphism";"645202";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Limited dorsal myeloschisis";"645196";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dysraphism with stalk";"645193";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinal dermal sinus";"645188";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hao-Fountain syndrome";"643549";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hao-Fountain syndrome due to USP7 mutation";"643538";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome";"643503";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Central precocious puberty in male";"649929";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Charcot-Marie-Tooth disease type 4G";"99953";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic bridging bronchus";"648992";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2F";"99940";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2E";"99939";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-syndromic congenital bronchial atresia";"649010";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2I";"99942";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Bronchial malformation";"649014";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2G";"99941";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare adrenocortical nodular disease";"649017";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2K";"99944";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2C";"99937";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant Charcot-Marie-Tooth disease type 2D";"99938";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Invasive mole";"99925";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gestational choriocarcinoma";"99926";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hydatidiform mole";"99927";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Placental site trophoblastic tumor";"99928";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary pulmonary hemosiderosis";"99930";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Streptococcal toxic-shock syndrome";"99918";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Theca steroid-producing cell malignant tumor of ovary, not further specified";"99917";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant Sertoli-Leydig cell tumor of the ovary";"99916";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Maligant granulosa cell tumor of the ovary";"99915";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ocular cicatricial pemphigoid";"99922";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Chronic graft versus host disease";"99921";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute graft versus host disease";"99920";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Staphylococcal toxic-shock syndrome";"99919";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Occupational allergic alveolitis";"99909";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Pigeon-breeder lung disease";"99908";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "House allergic alveolitis";"99907";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Gynandroblastoma";"99914";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Extragonadal non-dysgerminomatous germ cell tumor";"99913";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Malignant dysgerminomatous germ cell tumor of the ovary";"99912";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acyl-CoA dehydrogenase 9 deficiency";"99901";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Streptobacillary rat-bite fever";"99905";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Farmer's lung disease";"99906";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spirillary rat-bite fever";"99903";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "ACTH-dependent Cushing syndrome";"99892";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency";"99898";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial isolated hyperparathyroidism";"99879";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hyperparathyroidism-jaw tumor syndrome";"99880";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Acute megakaryoblastic leukemia in Down syndrome";"99887";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cushing syndrome due to ectopic ACTH secretion";"99889";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated permanent neonatal diabetes mellitus";"99885";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Transient neonatal diabetes mellitus";"99886";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spermatocytic seminoma";"99865";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Precursor B-cell acute lymphoblastic leukemia";"99860";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Precursor T-cell acute lymphoblastic leukemia";"99861";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thymic carcinoma";"99868";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Thymic neuroendocrine carcinoma";"99869";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glycogen storage disease due to muscle beta-enolase deficiency";"99849";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic recurrent myoglobinuria";"99845";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare peripheral precocious puberty in female";"650187";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant myoglobinuria";"99846";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic central precocious puberty";"650182";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leukocyte adhesion deficiency type II";"99843";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Non-genetic central precocious puberty in male";"650102";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leukocyte adhesion deficiency type III";"99844";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary syringomyelia";"99857";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Idiopathic syringomyelia";"99858";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary syringomyelia";"99856";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ovarioleukodystrophy";"99853";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cree leukoencephalopathy";"99854";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Ravine syndrome";"99852";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Resistance to thyrotropin-releasing hormone syndrome";"99832";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Yellow fever";"99829";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Dengue fever";"99828";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Crimean-Congo hemorrhagic fever";"99827";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary central precocious puberty in male";"650092";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Leukocyte adhesion deficiency type I";"99842";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic central precocious puberty in male";"650097";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Secondary central precocious puberty in female";"650082";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Primary central precocious puberty in male";"650087";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic central precocious puberty in female";"650077";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neuronal intestinal pseudoobstruction";"99811";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "LIG4 syndrome";"99812";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 82";"631073";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 83";"631076";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 84";"631079";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 85";"631082";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant spastic paraplegia type 80";"631068";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 49";"631106";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 48";"631103";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Spinocerebellar ataxia type 44";"631095";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 87";"631088";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive spastic paraplegia type 86";"631085";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Cancer of unknown primary site";"631251";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mitchell Syndrome";"631248";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare andrological tumor";"626609";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic NF2-related schwannomatosis";"634475";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic schwannomatosis";"634492";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic Legius syndrome";"634511";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurofibromatosis/schwannomatosis";"634518";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mosaic neurofibromatosis type 1";"634461";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated optic nerve aplasia";"637064";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Isolated optic nerve hypoplasia";"637061";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive myosin storage myopathy";"636970";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal dominant myosin storage myopathy";"636965";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Borna virus encephalitis";"637051";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SMARCA2-related blepharophimosis-intellectual disability syndrome";"637013";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Invasive Candidiasis";"636945";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Vascular Ehlers-Danlos-polymicrogyria syndrome";"636941";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Endemic pemphigus foliaceus";"636955";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Glaucomatocyclitic crisis disease";"636950";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Endogenous Cushing syndrome";"641613";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Childhood-onset schizophrenia";"641496";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PsAPASH syndrome";"641390";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Central nervous system tuberculosis";"641396";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PAPASH syndrome";"641380";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PASS syndrome";"641385";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "B-lymphoblastic leukemia/lymphoma with t(17";"641375";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Autosomal recessive hyper-IgE syndrome";"641368";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "B-lymphoblastic leukemia/lymphoma with t(7";"641372";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome";"641353";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome";"641361";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Imprinting disorders";"641343";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immunotherapy induced hypophysitis";"641350";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Mesomelic dysplasia-digital anomalies-intellectual disability syndrome";"632603";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome";"633021";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome";"633024";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome";"633004";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome";"633014";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Preaxial digit brachydactyly-webbed fingers";"633211";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Invasive scopulariopsis infection";"633124";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Intellectual disability-early-onset cataract-microcephaly syndrome";"633035";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CPE-related Prader-Willi-like syndrome";"633028";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "PAICS deficiency";"633099";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Split cord malformation, composite type";"633076";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Paraneoplastic cerebellar degeneration";"623626";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Immune-mediated cerebellar ataxia";"623638";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "MIR140-related spondyloepiphyseal dysplasia";"623695";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "X-linked severe syndromic thoracic aortic aneurysm and dissection";"622925";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SBDS-related severe neonatal spondylometaphyseal dysplasia";"622934";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Superior mesenteric artery syndrome";"622099";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Genetic autoinflammatory syndrome with skin involvement";"622720";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare genetic nevus";"622914";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "SAMD9L-associated autoinflammatory syndrome";"619367";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Familial hyperinflammatory lymphoproliferative immunodeficiency";"619953";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome";"619948";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome";"619979";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "CADINS disease";"619972";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hereditary connective tissue disease";"619249";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Narcolepsy";"619284";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Inherited hematologic cancer-predisposing syndrome";"619340";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18";"619363";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Hereditary persistence of fetal hemoglobin-intellectual disability syndrome";"619233";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null) "Rare hereditary autoinflammatory disease";"619238";"ORPHAcode";"Condition";"Diagnosis";(null);"1970-01-01";"2099-12-31";(null)