Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_enveloping layer | EFO_0003425 | |
| X-linked intellectual disability, Abidi type | Orphanet_85273 | |
| obsolete_liver primordium | EFO_0003428 | |
| obsolete_germ ring | EFO_0003427 | |
| obsolete_larval labral segment | EFO_0003408 | |
| obsolete_embryonic proventriculus outer layer | EFO_0003407 | |
| obsolete_ravine syndrome | Orphanet_99852 | |
| obsolete_embryonic labial sensory complex | EFO_0003409 | |
| obsolete_Cree leukoencephalopathy | Orphanet_99854 | |
| obsolete_ovarioleukodystrophy | Orphanet_99853 | |
| obsolete_primary syringomyelia | Orphanet_99856 | |
| obsolete_Costello syndrome | Orphanet_3071 | [Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.] |
| hidradenoma | MONDO_0002805 | [A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma.] |
| Pimephales promelas | NCBITaxon_90988 | |
| obsolete_lipoic acid synthetase deficiency | Orphanet_401859 | |
| Intellectual disability - myopathy - short stature - endocrine defect | Orphanet_3068 | |
| surfactant role | CHEBI_35195 | [A substance which lowers the surface tension of the medium in which it is dissolved, and/or the interfacial tension with other phases, and, accordingly, is positively adsorbed at the liquid/vapour and/or at other interfaces.] |
| Intellectual disability - microcephaly - phalangeal - facial abnormalities | Orphanet_3067 | |
| infectious otitis interna | MONDO_0002812 | [Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology.] |
| X-linked intellectual disability, Wittner type | Orphanet_3064 |