monarch-initiative/mondo: v2026-03-03

<details> <summary>New terms: 156</summary>

| Mondo ID | Label | Definition | |:---|:---|:---| | MONDO:0700385 | Camurati-Engelmann disease type 1 | A Camurati-Engelmann disease caused by a variation in the TGFB1 gene. | | MONDO:0700386 | enhanced S-cone syndrome 2 | An enhanced S-cone syndrome caused by a variation in the NRL gene. | | MONDO:0700387 | dentin dysplasia, type IB | | | MONDO:0700388 | cardiac conduction disease with or without dilated cardiomyopathy 1 | A hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease caused by a variation in the TNNI3K gene. | | MONDO:0700389 | cardiac conduction disease with or without cardiomyopathy 2 | A hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease caused by a variation in the POPDC2 gene. | | MONDO:0700390 | follicular lymphoma, susceptibility to, 2 | | | MONDO:0700391 | autoinflammation and autoimmunity with immune dysregulation 1 | | | MONDO:0700392 | autoinflammation and autoimmunity with immune dysregulation 2 | | | MONDO:0700393 | idiopathic triglyceride deposit cardiomyovasculopathy | | | MONDO:0975919 | IFIH1-related hereditary spastic paraplegia | | | MONDO:0975920 | RNASEH2B-related hereditary spastic paraplegia | | | MONDO:0978306 | isolated duodenal duplication | | | MONDO:0978307 | isolated jejuno-ileal duplication | | | MONDO:0978310 | adenomatoid tumour of the peritoneum | | | MONDO:0978312 | isolated anal canal duplication | | | MONDO:0979257 | isolated anogenital granulomatosis | A rare urogenital disease characterized by the presence of granulomas in the genital or anoperineal area presenting with painless swelling, inflammation, ulcers and lymphoedema. It is usually associated with a history of recurrent perianal or genital lesions. | | MONDO:0979258 | cerebral proliferative angiopathy | A rare arteriovenous malformation characterized by seizures, disabling headaches, and stroke-like symptoms with progressive neurological deficits due to a proliferative response to chronic parenchymal ischaemia. Normal brain parenchyma is interspersed throughout the vascular malformation. Hemorrhagic presentations are uncommon; however, when present, the risk of reccurence is higher in such patients than in those with classic cerebral arteriovenous malformation. | | MONDO:0979259 | triglyceride deposit cardiomyovasculopathy | A rare cardiovascular disorder characterized by defective intracellular lipolysis of long-chain triglycerides (LCTG), resulting in heart failure and diffuse atherosclerosis. | | MONDO:0979261 | RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome | | | MONDO:0979271 | congenital intrahepatic arterioportal fistula | | | MONDO:0979273 | ADAR-related hereditary spastic paraplegia | | | MONDO:0979280 | pure squamous carcinoma of the urothelial tract | | | MONDO:0979281 | giant omphalocele | | | MONDO:0979282 | small omphalocele | | | MONDO:0979284 | acinar cystic transformation of the pancreas | | | MONDO:0979286 | sickle cell-beta zero-thalassemia | | | MONDO:0979287 | sickle cell-beta plus-thalassemia | | | MONDO:0979288 | combined immunodeficiency due to dimerization defective IKAROS mutation | | | MONDO:0979290 | late-onset combined immunodeficiency due to ICOSL deficiency | | | MONDO:0979291 | 3q26q28 deletion syndrome | | | MONDO:0979292 | primary vitreoretinal large b-cell lymphoma | | | MONDO:0979300 | PPARG-associated congenital generalized lipodystrophy | | | MONDO:0979307 | emergomycosis | | | MONDO:0979310 | lymphoepithelial cyst of the pancreas | | | MONDO:0979315 | combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency | | | MONDO:0979316 | early-onset combined immunodeficiency with low ig due to dominant negative IKAROS mutation | | | MONDO:0979317 | ST3GAL3-congenital disorder of glycosylation | | | MONDO:0979319 | congenital peritoneal encapsulation | | | MONDO:0979323 | carotid web | | | MONDO:0979325 | annular erythema of infancy | | | MONDO:0979326 | Fontan-associated liver disease | Chronic disease that occur as a complication of the Fontan procedure, a palliative surgery for patients with congenital heart disease that results in a single-ventricle circulation. | | MONDO:0979327 | combined immunodeficiency with low Ig due to BCL10 deficiency | | | MONDO:0979328 | immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency | | | MONDO:0979334 | necrotizing cellulitis | | | MONDO:0979335 | fibro-adipose vascular anomaly | A rare vascular malformation characterized by fibro-adipose and venous tissue with diffuse muscle infiltration and extension along fascial planes, most often affecting the calf and forearm. Major clinical features include severe and persistent pain, phlebectasia, contractures, joint deformity as well as muscle atrophy. The skin is usually unremarkable. | | MONDO:0979337 | necrotizing myositis | | | MONDO:0979339 | infantile neuronal ceroid lipofuscinosis 1 | | | MONDO:0979340 | late infantile neuronal ceroid lipofuscinosis 1 | | | MONDO:0979341 | juvenile neuronal ceroid lipofuscinosis 1 | | | MONDO:0979342 | adult neuronal ceroid lipofuscinosis 1 | | | MONDO:0979343 | infantile neuronal ceroid lipofuscinosis 2 | | | MONDO:0979344 | late infantile neuronal ceroid lipofuscinosis 2 | | | MONDO:0979345 | juvenile neuronal ceroid lipofuscinosis 2 | | | MONDO:0979346 | juvenile neuronal ceroid lipofuscinosis 3 | | | MONDO:0979347 | protracted juvenile neuronal ceroid lipofuscinosis 3 | | | MONDO:0979348 | late infantile neuronal ceroid lipofuscinosis 5 | | | MONDO:0979349 | juvenile neuronal ceroid lipofuscinosis 5 | | | MONDO:0979350 | adult neuronal ceroid lipofuscinosis 5 | | | MONDO:0979353 | 2p25.3 microduplication syndrome | | | MONDO:0979354 | sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant | | | MONDO:0979355 | homozygous hemoglobin O Arab disease | | | MONDO:0979356 | autosomal recessive hereditary chronic pancreatitis | | | MONDO:0979357 | idiopathic chronic pancreatitis | | | MONDO:0979359 | TARDBP-related predominantly upper-limb distal myopathy | | | MONDO:0979360 | ADNP-related blepharophimosis-intellectual disability syndrome | | | MONDO:0979361 | asymetric thumb-handgrip weakness-distal myopathy | | | MONDO:0979362 | calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy | | | MONDO:0979367 | late infantile neuronal ceroid lipofuscinosis 6 | | | MONDO:0979368 | juvenile neuronal ceroid lipofuscinosis 6 | | | MONDO:0979370 | late infantile neuronal ceroid lipofuscinosis 8 | | | MONDO:0979371 | congenital neuronal ceroid lipofuscinosis 10 | | | MONDO:0979372 | late infantile neuronal ceroid lipofuscinosis 10 | | | MONDO:0979373 | juvenile neuronal ceroid lipofuscinosis 10 | | | MONDO:0979881 | infection-induced acute-onset axonal neuropathy | | | MONDO:0979897 | congenital myopathy 27 | | | MONDO:0979898 | Dursun-Ozgul neurodevelopmental syndrome | | | MONDO:0979899 | spondyloepiphyseal dysplasia, Holling type | | | MONDO:0980699 | neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech | | | MONDO:0980700 | neurodevelopmental disorder with speech delay and behavioral abnormalities | | | MONDO:0980701 | sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2 | | | MONDO:0980702 | immune dysregulation, neurodevelopmental defects, and colitis | | | MONDO:0980703 | Harel-Tora neurodevelopmental syndrome | | | MONDO:0980704 | neurocardiorenal malformation syndrome | | | MONDO:0980705 | congenital disorder of glycosylation, type IIcc | | | MONDO:0980706 | neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia | | | MONDO:0980707 | Valence-Farazi cerebellar ataxia syndrome | | | MONDO:0980708 | spermatogenic failure 102 | | | MONDO:0980709 | neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities | | | MONDO:0980710 | neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities | | | MONDO:0980711 | brain small vessel disease 6 with leukoencephalopathy | | | MONDO:0980712 | dyschromatosis, ichthyosis, deafness, and atopic disease | | | MONDO:0980715 | cardiac conduction disease with or without cardiomyoopathy | A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood. | | MONDO:0980721 | rhabdomyolysis, susceptibility to, 2 | | | MONDO:0980722 | Stargardt disease 5 | | | MONDO:0980723 | fetomaternal alloimmune thrombocytopenia 1 | | | MONDO:0980724 | fetomaternal alloimmune thrombocytopenia 2 | | | MONDO:0980725 | fetomaternal alloimmune thrombocytopenia 3 | | | MONDO:0980726 | Ververi-Brady syndrome 2 | | | MONDO:0980727 | developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies | | | MONDO:0980728 | developmental delay with sleep apnea | | | MONDO:0980729 | immunodeficiency 134 (Epstein-Barr virus-specific) | | | MONDO:0980732 | Pitt-Hopkins or Pitt-Hopkins-like syndrome | | | MONDO:0980746 | intellectual developmental disorder, autosomal recessive 84 | | | MONDO:0980747 | brain small vessel disease 2B, autosomal recessive | | | MONDO:0980748 | intellectual developmental disorder, autosomal dominant 77 | | | MONDO:0980749 | apolipoprotein A-II deficiency | | | MONDO:0980751 | Ramond-Elliott neurodevelopmental syndrome | | | MONDO:0980752 | leukoencephalopathy without lacunae, adult-onset | | | MONDO:0980755 | mitochondrial complex IV deficiency, nuclear type 24 | | | MONDO:0980756 | congenital myopathy 28 with rigid spine | | | MONDO:0980757 | periodontitis, aggressive | | | MONDO:0980759 | follicular lymphoma, susceptibility to | | | MONDO:0980763 | dental radicular dysplasia | | | MONDO:0980764 | scoliosis, isolated, susceptibility to | | | MONDO:0980935 | microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia | | | MONDO:0980936 | neutropenia, severe congenital, 12, autosomal recessive | | | MONDO:0980937 | oculopharyngodistal myopathy 5 | | | MONDO:0980938 | osteopetrosis, autosomal dominant 4 | | | MONDO:0980939 | basal ganglia calcification, idiopathic, 11, autosomal recessive | | | MONDO:0980940 | neurodevelopmental disorder with hypotonia, epilepsy, and absent speech | | | MONDO:0980941 | neurodevelopmental disorder with speech delay, movement abnormalities, and seizures | | | MONDO:0980942 | intellectual developmental disorder with seizures and dysmorphic facies | | | MONDO:0980947 | neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter | | | MONDO:0980948 | developmental and epileptic encephalopathy 120 | | | MONDO:0980949 | Moyamoya disease 8 | | | MONDO:0980963 | Charcot-Marie-Tooth disease, axonal, type 2KK | | | MONDO:0980964 | oocyte/zygote/embryo maturation arrest 25 | | | MONDO:0980965 | neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities | | | MONDO:0980966 | developmental and epileptic encephalopathy 121 | | | MONDO:0980967 | mitochondrial dna depletion syndrome 14A (encephalomyopathic type) | | | MONDO:0980968 | neurodevelopmental disorder with seizures, hypotonia, and variable spasticity | | | MONDO:0980969 | Charcot-Marie-Tooth disease, axonal, type 2LL | | | MONDO:0980970 | mitochondrial complex 4 deficiency, nuclear type 25 | | | MONDO:0980971 | charcot-marie-tooth disease, axonal, type 2MM | | | MONDO:0980972 | hypotrichosis 16 | | | MONDO:0980973 | STAD syndrome | | | MONDO:0980974 | craniosynostosis-scoliosis syndrome | | | MONDO:1060192 | CASK-related intellectual disability | A syndromic disorder in which the cause of the disease is a variation in the CASK gene. It is associated with a wide phenotypic spectrum ranging from mild-to-severe intellectual disability with or without nystagmus to moderate-to-profound intellectual disability and progressive microcephaly with pontine and cerebellar hypoplasia, often associated with seizures. | | MONDO:1060193 | X-linked intellectual disability with or without nystagmus | An X-linked intelelctual disability in which the cause of the disease is hypomorphic CASK pathogenic variants. Affected individuals present with intellectual disability with or without congenital nystagmus. Additional features often include epilepsy, speech impairment, motor delay, and variable brain malformations. Phenotypic severity ranges from mild cognitive impairment to severe developmental disability. | | MONDO:1060197 | congenital heart disease with heterotaxy syndrome | A heart disease that is present at birth that occurs with variable extracardiac laterality defects. Features of visceral heterotaxy are not always present but can include abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. | | MONDO:1060198 | ischemic stroke | A stroke disorder caused by obstruction of blood flow to the brain, due to thrombotic (local blood clot formation) or embolic (due to a blood clot or other material traveling from another site) event. | | MONDO:1060199 | hemorrhagic stroke | A stroke disorder caused by bleeding into the brain parenchyma or surrounding spaces. Hemorrhagic stroke includes intracerebral hemorrhage (bleeding within the brain tissue) and subarachnoid hemorrhage (bleeding in the space between the brain and the surrounding membrane). | | MONDO:1060200 | primary hyperthyroidism | A form of hyperthyroidism caused by overproduction of thyroid hormones (T3 and T4) due to pathology within the thyroid gland itself. Primary hyperthyroidism is characterized by low TSH levels and elevated T3/T4 levels. | | MONDO:1060201 | secondary hyperthyroidism | A form of hyperthyroidism caused by overproduction of thyroid hormones (T3 and T4) due to pathology outside of the thyroid gland, namely in the hypothalamus or pituitary gland. Secondary hyperthyroidism is characterized by elevated TSH levels and elevated T3/T4 levels. | | MONDO:1060202 | toxic thyroid adenoma | A condition in which a single benign adenoma on the thyroid gland autonomously secretes excessive thyroid hormone, leading to primary hyperthyroidism. | | MONDO:1060203 | hypothalamic hyperthyroidism | A form of secondary hyperthyroidism caused by pathology in the hypothalamus leading to excessive stimulation of the pituitary gland and subsequent overproduction of TSH, resulting in elevated thyroid hormone levels. | | MONDO:1060204 | menstrual disorder | A disorder of the female reproductive system characterized by abnormalities in the menstrual cycle, including disturbances in timing, flow, or associated pain. | | MONDO:1060205 | dysmenorrhea | A menstrual disorder characterized by pain during the menstrual cycle. | | MONDO:1060206 | primary dysmenorrhea | A form of dysmenorrhea characterized by recurrent menstrual pain without any identifiable underlying pelvic pathology, representing a diagnosis of exclusion. Symptoms typically emerge within two years of menarche. | | MONDO:1060207 | secondary dysmenorrhea | A form of dysmenorrhea associated with suspected or clinically identifiable pelvic pathology, such as endometriosis, uterine fibroids, or adenomyosis. | | MONDO:1060208 | primary amenorrhea | A form of amenorrhea defined by the absence of menstruation by the age of 15 years, or by 3 years after the onset of breast development (thelarche). | | MONDO:1060209 | secondary amenorrhea | A form of amenorrhea characterized by the absence of menses for 3 or more months in a woman with previously regular menstrual cycles, or 6 or more months in any woman who has had at least one previous spontaneous menstruation. | | MONDO:1060210 | functional hypothalamic amenorrhea | A form of secondary amenorrhea caused by suppression of the hypothalamic-pituitary-ovarian axis without identifiable organic pathology, typically associated with energy deficiency, excessive exercise, psychological stress, or low body weight. | | MONDO:7770003 | cystic fibrosis-related diabetes | A form of diabetes mellitus unique to individuals with cystic fibrosis (CF), arising primarily from progressive fibrotic destruction of the pancreas leading to insulin deficiency, with additional contributions from insulin resistance. CFRD affects approximately 20% of adolescents and 40-50% of adults with CF. It shares features with both type 1 and type 2 diabetes but is a distinct clinical entity with its own diagnostic criteria and management guidelines. | | MONDO:7770004 | CFTR-related disorder | A disease associated with CFTR (cystic fibrosis transmembrane conductance regulator) dysfunction that does not fulfill the diagnostic criteria for cystic fibrosis (CF). CFTR-related disorders are characterized by clinical evidence of CFTR dysfunction limited to a single organ system, a sweat chloride concentration below the CF diagnostic threshold (typically less than 60 mmol/L), and CFTR genotypes that often include at least one variant not classified as CF-causing. Recognized CFTR-related disorders include congenital bilateral absence of the vas deferens (CBAVD), acute recurrent or chronic pancreatitis, and disseminated bronchiectasis. | | MONDO:7770005 | cystic fibrosis-related liver disease | A liver disorder that arises as a consequence of cystic fibrosis. Cystic fibrosis-related liver disease encompasses a spectrum of hepatobiliary abnormalities caused by CFTR dysfunction in cholangiocytes, including focal biliary cirrhosis, multilobular biliary cirrhosis, hepatic steatosis, and cholangiopathy. It is a significant cause of non-pulmonary morbidity and mortality in CF, affecting approximately 5-10% of CF patients. |

</details>

<details> <summary>Terms renamed (excluding obsoleted terms): 6</summary>

| ID | Old Label | New Label | |:---|:---|:---| | MONDO:0001252 | Plummer disease | toxic multinodular goitre | | MONDO:0004586 | rheumatoid lung disease | rheumatoid arthritis-associated interstitial lung disease | | MONDO:0009644 | sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 | | MONDO:0011690 | Camurati-Engelmann disease, type 2 | Camurati-Engelmann disease type 2 | | MONDO:0035423 | triglyceride deposit cardiomyovasculopathy | primary triglyceride deposit cardiomyovasculopathy | | MONDO:0100627 | CFTR-related metabolic syndrome | CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis |

</details>

<details> <summary>Text definitions added to existing terms: 2</summary>

| Mondo ID | Label | New Text Definition | |:---|:---|:---| | MONDO:0033925 | pediatric-onset Graves disease | A rare endocrine disease characterized by the presence of serum autoantibodies against thyroid-stimulating hormone receptors, leading to excessive thyroid hormone production and a swollen thyroid gland. Children with this disease typically experience symptoms of an overactive thyroid, including rapid heartbeat, weight loss, tremors, and excessive sweating. | | MONDO:0035423 | primary triglyceride deposit cardiomyovasculopathy | A rare inborn error of metabolism characterized by massive accumulation of triglycerides in the myocardium and coronary arteries, while plasma triglyceride levels are normal. Patients present in adulthood with signs and symptoms of coronary artery disease and severe heart failure. Concomitant skeletal myopathy is common. Vacuole formation in polymorphonuclear leukocytes is typically observed. |

</details>

<details> <summary>Text definitions changed: 4</summary>

| Mondo ID | Label | Old Text Definition | New Text Definition | |:---|:---|:---|:---| | MONDO:0004586 | rheumatoid arthritis-associated interstitial lung disease | Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis. | A group of lung problems related to rheumatoid arthritis. | | MONDO:0009061 | cystic fibrosis | Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity. | Autosomal recessive disorder caused by pathogenic variants in the CFTR gene (cystic fibrosis transmembrane conductance regulator), which encodes a chloride and bicarbonate channel expressed in epithelial cells, and follow the diagnosis criteria. Diagnosis requires evidence of CFTR dysfunction, defined as a sweat chloride concentration of 60 mmol/L or greater, or identification of two CF-causing CFTR pathogenic variants, or an abnormal nasal potential difference measurement. CF is a progressive, multi-organ disease characterized by chronic obstructive lung disease with recurrent infections, exocrine pancreatic insufficiency, intestinal obstruction (including meconium ileus in neonates), male infertility due to obstructive azoospermia, hepatobiliary complications, and elevated sweat chloride concentrations. | | MONDO:0010417 | syndromic X-linked intellectual disability Najm type | Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development. | A rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development. | | MONDO:0100627 | CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis | Any metabolic syndrome in which the cause of the disease is a variation in the CRTR gene. It is characterized in infants with hypertrypsinogenemia on newborn screening who have normal or intermediate sweat chloride values and 2 CFTR mutations, including at least one that is not known to cause cystic fibrosis (CF), and thus do not meet CF Foundation guidelines for the diagnosis of CF. | A condition identified in infants with hypertrypsinogenemia on newborn screening who have an inconclusive diagnosis, defined as having a sweat chloride value less than 60 mmol/L and two CFTR variants, at least one of which has unclear phenotypic consequences, and who thus do not meet diagnostic criteria for cystic fibrosis (CF). CRMS is the designation used in the United States; CFSPID (CF screen positive, inconclusive diagnosis) is the international equivalent. A proportion of these infants may later develop CFTR-related symptoms. |

</details>

<details> <summary>Terms obsoleted with replacement: 0</summary>

| Mondo ID | Label | Replacement | |:---|:---|:---|

</details>

<details> <summary>Terms obsoleted without replacement: 0</summary>

| Mondo ID | Label | |:---|:---|

</details>

<details> <summary>New obsoletion candidates: 7</summary>

| Mondo ID | Label | |:---|:---| | MONDO:0000944 | cerebral artery occlusion | | MONDO:0005299 | brain ischemia | | MONDO:0005394 | brain infarction | | MONDO:0005490 | large artery stroke | | MONDO:0006685 | brain hypoxia - ischemia | | MONDO:0020250 | autosomal dominant optic atrophy | | MONDO:0958129 | COQ7-related distal hereditary motor neuropathy |

</details>

<details> <summary>Terms that were previously candidates for obsoletion and are now not anymore: 1</summary>

| Mondo ID | Label | |:---|:---| | MONDO:0100066 | TH-deficient progressive infantile encephalopathy |

</details>

Please note that the equivalencies.{owl,json,obo} files have been deprecated in this release: these files do no longer follow community conventions and have faded out. See this GitHub issue for details