All terms in DOID

Label Id Description
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.]
X-linked endothelial corneal dystrophy DOID_0060446 [A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.]
epithelial basement membrane dystrophy DOID_0060447 [An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium.]
Fleck corneal dystrophy DOID_0060448 [A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34.]
gelatinous drop-like corneal dystrophy DOID_0060449 [An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32.]
epiglottis UBERON_0000388
foramen of skull UBERON_0013685
bone foramen UBERON_0005744
digitopodium bone UBERON_0012357
autopod bone UBERON_0011250
vasculature of central nervous system plus retina UBERON_0036302
vasculature UBERON_0002049
vasculature of central nervous system UBERON_0036303