Terminology Service for NFDI4Health
All terms in DOID
| Label | Id | Description |
|---|---|---|
| perianal skin | UBERON_0012336 | |
| skin of pelvis | UBERON_0001415 | |
| subepithelial mucinous corneal dystrophy | DOID_0060454 | |
| epithelial and subepithelial dystrophy | DOID_0060440 | [A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane.] |
| Thiel-Behnke corneal dystrophy | DOID_0060455 | [An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea.] |
| epithelial-stromal TGFBI dystrophy | DOID_0060441 | [A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q.] |
| Exophiala | NCBITaxon_5583 | |
| Schnyder corneal dystrophy | DOID_0060456 | |
| stromal dystrophy | DOID_0060442 | [A corneal dystrophy that affects the corneal stroma.] |
| posterior polymorphous corneal dystrophy | DOID_0060457 | |
| corneal endothelial dystrophy | DOID_0060443 | [A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane.] |
| chromosome 2q31.1 duplication syndrome | DOID_0060458 | |
| tracheal mucosa | UBERON_0000379 | |
| respiratory system mucosa | UBERON_0004785 | |
| chromosome 3q29 microduplication syndrome | DOID_0060459 | |
| Lisch epithelial corneal dystrophy | DOID_0060450 | |
| bone of jaw | UBERON_0012360 | |
| facial bone | UBERON_0003462 | |
| Meesmann corneal dystrophy | DOID_0060451 | |
| posterior amorphous corneal dystrophy | DOID_0060452 |