Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_spondylometaphyseal dysplasia, Schmidt type | Orphanet_93316 | |
| obsolete_spondylometaphyseal dysplasia, 'corner fracture' type | Orphanet_93315 | |
| GM17189 | CLO_0013790 | [HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100] |
| obsolete_spondylometaphyseal dysplasia, Kozlowski type | Orphanet_93314 | |
| pharyngeal arch cartilage | UBERON_0011004 | [A cartilage element that is part of a splanchnocranium.] |
| GM17194 | CLO_0013798 | [HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100] |
| GM17195 | CLO_0013797 | [HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100] |
| GM17192 | CLO_0013796 | [HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100] |
| GM17193 | CLO_0013795 | [HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100] |
| obsolete_tibial hemimelia | Orphanet_93322 | |
| obsolete_radial hemimelia | Orphanet_93321 | |
| obsolete_ulnar hemimelia | Orphanet_93320 | |
| obsolete_autosomal recessive omodysplasia | Orphanet_93329 | |
| obsolete_autosomal dominant omodysplasia | Orphanet_93328 | |
| buttock | UBERON_0013691 | [A zone of soft tissue located on the posterior of the lateral side of the pelvic region corresponding to the gluteal muscles.] |
| obsolete_autosomal dominant Kenny-Caffey syndrome | Orphanet_93325 | |
| O-adipoylcarnitine | CHEBI_68568 | [An O-acylcarnitine compound having adipoyl as the acyl substituent.] |
| obsolete_autosomal recessive Kenny-Caffey syndrome | Orphanet_93324 | |
| obsolete_fibular hemimelia | Orphanet_93323 | |
| N-acetyltyrosine | CHEBI_68561 | [An N-acetyl-amino acid that is tyrosine with an amine hydrogen substituted by an acetyl group.] |