Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_neuropathy with hearing impairment | Orphanet_139512 | |
| obsolete_intellectual disability-hyperkinetic movement-truncal ataxia syndrome | Orphanet_369847 | |
| multifocal pattern dystrophy simulating fundus flavimaculatus | MONDO_0020382 | [Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age.] |
| obsolete_familial or sporadic hemiplegic migraine | Orphanet_569 | |
| patterned macular dystrophy | MONDO_0020381 | [A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped.] |
| obsolete_microphthalmia, Lenz type | Orphanet_568 | |
| obsolete_22q11.2 deletion syndrome | Orphanet_567 | [22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.] |
| obsolete_congenital microcoria | Orphanet_566 | |
| obsolete_Menkes disease | Orphanet_565 | [Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.] |
| obsolete_Meckel syndrome | Orphanet_564 | |
| obsolete_McCune-Albright syndrome | Orphanet_562 | |
| obsolete_Marshall-Smith syndrome | Orphanet_561 | |
| Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency | Orphanet_331226 | |
| Autosomal recessive hyper-IgE syndrome | Orphanet_169446 | [Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; see this term), but other features such as persistent cutaneous viral infections are unique to AR-HIES.] |
| obsolete_Marshall syndrome | Orphanet_560 | |
| double outlet right ventricle with non-committed subpulmonary ventricular septal defect | MONDO_0020388 | |
| obsolete_hyper-IgE syndrome | Orphanet_331223 | |
| double outlet right ventricle with subpulmonary ventricular septal defect | MONDO_0020387 | |
| double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis | MONDO_0020386 | |
| congenitally uncorrected transposition of the great arteries with coarctation | MONDO_0020385 |