All terms in DOID

Label Id Description
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 [A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36.]
stromal dystrophy DOID_0060442 [A corneal dystrophy that affects the corneal stroma.]
posterior polymorphous corneal dystrophy DOID_0060457 [A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer.]
corneal dystrophy DOID_2566
chromosome 2q31.1 duplication syndrome DOID_0060458 [A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region.]
tracheal mucosa UBERON_0000379
mucosa UBERON_0000344
respiratory system mucosa UBERON_0004785
chromosome 3q29 microduplication syndrome DOID_0060459 [A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region.]
Lisch epithelial corneal dystrophy DOID_0060450 [An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19.]
bone of jaw UBERON_0012360
facial bone UBERON_0003462
bone element UBERON_0001474
Meesmann corneal dystrophy DOID_0060451 [An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium.]
posterior amorphous corneal dystrophy DOID_0060452 [A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome.]
Aureobasidium NCBITaxon_5579