Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| omodysplasia | MONDO_0017136 | [Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.] |
| hereditary ATTR amyloidosis | MONDO_0017132 | |
| autosomal dominant cerebellar ataxia type IV | MONDO_0019794 | |
| recessive mitochondrial ataxia syndrome | MONDO_0019791 | |
| galactosemia 4 | MONDO_0030105 | |
| Silver-Russell syndrome 5 | MONDO_0020795 | |
| idiopathic pulmonary arterial hypertension | MONDO_0017147 | [Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH.] |
| idiopathic and/or familial pulmonary arterial hypertension | MONDO_0008347 | [Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown.] |
| heritable pulmonary arterial hypertension | MONDO_0017148 | [Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.] |
| immunodeficiency 62 | MONDO_0032763 | |
| obsolete_glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form | Orphanet_308621 | |
| developmental delay with or without dysmorphic facies and autism | MONDO_0032760 | |
| hemoglobinopathy | MONDO_0044348 | |
| neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | MONDO_0032755 | |
| chronic gingivitis | MONDO_0020782 | [Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth.] |
| Gabriele de Vries syndrome | MONDO_0044738 | |
| neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | MONDO_0032790 | |
| obsolete_developmental anomaly of metabolic origin | Orphanet_139009 | |
| glycosylphosphatidylinositol biosynthesis defect 18 | MONDO_0029140 | |
| oculopharyngodistal myopathy 2 | MONDO_0030134 |