Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_congenital stationary night blindness | Orphanet_215 | |
| obsolete_cystinuria | Orphanet_214 | |
| obsolete_cystinosis | Orphanet_213 | |
| obsolete_cystathioninuria | Orphanet_212 | |
| obsolete_familial cylindromatosis | Orphanet_211 | |
| obsolete_Familial aortic dissection | Orphanet_229 | |
| obsolete_dihydropteridine reductase deficiency | Orphanet_226 | |
| obsolete_maternally-inherited diabetes and deafness | Orphanet_225 | |
| obsolete_neonatal diabetes mellitus | Orphanet_224 | |
| obsolete_nephrogenic diabetes insipidus | Orphanet_223 | |
| obsolete_Denys-Drash syndrome | Orphanet_220 | |
| insect dorsal imaginal precursor | UBERON_6005831 | |
| obsolete_Dyggve-Melchior-Clausen disease | Orphanet_239 | [Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term).] |
| obsolete_digestive duplication | Orphanet_238 | |
| obsolete_duplication of urethra | Orphanet_237 | |
| obsolete_trisomy 9p | Orphanet_236 | |
| obsolete_Dubowitz syndrome | Orphanet_235 | [Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.] |
| obsolete_Dubin-Johnson syndrome | Orphanet_234 | [Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells., A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile.] |
| obsolete_Duane retraction syndrome | Orphanet_233 | [Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.] |
| obsolete_sickle cell anemia | Orphanet_232 |