Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| alendronic acid | CHEBI_2567 | |
| obsolete_glycogen storage disease due to acid maltase deficiency, infantile onset | Orphanet_308552 | |
| Glycogen storage disease due to glycogen synthase deficiency | Orphanet_308520 | |
| obsolete_atelosteogenesis type II | Orphanet_56304 | |
| obsolete_atelosteogenesis type III | Orphanet_56305 | |
| agarose | CHEBI_2511 | [A polysaccharide that has formula (C12H18O9)n.] |
| mandible | UBERON_0001684 | [A dentary bone that is the only bone in one of the lateral halves of the lower jaw skeleton.] |
| obsolete_multiple epiphyseal dysplasia type 1 | Orphanet_93308 | |
| obsolete_multiple epiphyseal dysplasia type 4 | Orphanet_93307 | |
| GM17185 | CLO_0013781 | [HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100] |
| obsolete_autosomal dominant brachyolmia | Orphanet_93304 | |
| obsolete_Brachyolmia type 1, Toledo type | Orphanet_93303 | [Brachyolmia type 1, Toledo type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, and platyspondyly, as well as corneal opacities.] |
| obsolete_brachyolmia, Maroteaux type | Orphanet_93302 | |
| obsolete_Brachyolmia type 1, Hobaek type | Orphanet_93301 | [Brachyolmia type 1, Hobaek type is an autosomal recessive form of brachyolmia (see this term), a group of rare genetic skeletal disorders, and is characterized by short stature, short trunk, platyspondyly, horizontal acetabular roof, short femoral neck without corneal opacities.] |
| GM17186 | CLO_0013784 | [HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100] |
| external ear | UBERON_0001691 | [Part of the ear external to the tympanum (eardrum). It typically consists of a tube (the external auditory meatus) that directs sound waves on to the tympanum, and may also include the external pinna, which extends beyond the skull[GO].] |
| obsolete_multiple epiphyseal dysplasia type 5 | Orphanet_93311 | |
| GM17190 | CLO_0013794 | [HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100] |
| GM17191 | CLO_0013793 | [HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 100] |
| obsolete_spondylometaphyseal dysplasia, Sedaghatian type | Orphanet_93317 |