All terms in DOID

Label Id Description
Microascaceae NCBITaxon_5593
Microascales NCBITaxon_5592
SATB2-associated syndrome DOID_0060428 [A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.]
Hypocreomycetidae NCBITaxon_222543
Rhinocladiella NCBITaxon_5587
chromosome 4q21 deletion syndrome DOID_0060420 [A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region.]
broad ligament of uterus UBERON_0012332
ligament UBERON_0000211
cranial cartilage UBERON_0003933
perianal skin UBERON_0012336
skin of pelvis UBERON_0001415
subepithelial mucinous corneal dystrophy DOID_0060454 [An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life.]
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