Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_recessive dystrophic epidermolysis bullosa inversa | Orphanet_79409 | |
| obsolete_Severe generalized recessive dystrophic epidermolysis bullosa | Orphanet_79408 | [Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.] |
| Missing ribs | HP_0000921 | [A developmental anomaly with absence of one or more ribs.] |
| obsolete_CK syndrome | Orphanet_251383 | |
| Griscelli disease type 3 | Orphanet_79478 | |
| Griscelli disease | Orphanet_381 | |
| Griscelli disease type 2 | Orphanet_79477 | |
| Immunodeficiency syndrome with hypopigmentation | Orphanet_331249 | |
| obsolete_atypical Werner syndrome | Orphanet_79474 | |
| Porphyria variegata | Orphanet_79473 | |
| Acute hepatic porphyria | Orphanet_95157 | [Acute hepatic porphyrias represent a sub-group of porphyrias (see this term) characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare) (see these terms).] |
| Griscelli disease type 1 | Orphanet_79476 | |
| obsolete_peripheral hypothyroidism | Orphanet_226310 | |
| obsolete_genetic transient congenital hypothyroidism | Orphanet_226316 | |
| Obesity due to congenital leptin resistance | Orphanet_179490 | |
| Genetic obesity | Orphanet_77828 | |
| obsolete_Niemann-Pick disease type C, juvenile neurologic onset | Orphanet_216981 | |
| obsolete_Niemann-Pick disease type C, adult neurologic onset | Orphanet_216986 | |
| obsolete_obesity due to leptin receptor gene deficiency | Orphanet_179494 | |
| obsolete_3-methylglutaconic aciduria | Orphanet_289902 |