All terms in DOID

Label Id Description
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
Saccotheciaceae NCBITaxon_1570301
Reis-Bucklers corneal dystrophy DOID_0060453 [An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in 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.]
apocrine sweat gland UBERON_0000382
skin apocrine gland UBERON_0012177
corneal endothelial dystrophy DOID_0060443 [A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane.]
granular corneal dystrophy 2 DOID_0060444 [An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface.]
granular corneal dystrophy DOID_12318 [An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea.]
congenital stromal corneal dystrophy DOID_0060445 [A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth.]