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, sus