All terms in DOID

Label Id Description
hereditary desmoid disease DOID_0111349 [A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2.]
age related macular degeneration 7 DOID_0110019 [An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26.]
Leber congenital amaurosis 2 DOID_0110016 [A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1.]
epidermolysis bullosa with congenital localized absence of skin and deformity of nails DOID_0111347 [An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31.]
age related macular degeneration 4 DOID_0110017 [An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31.]
multiple epiphyseal dysplasia with myopia and deafness DOID_0111348 [A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11.]
transient bullous dermolysis of the newborn DOID_0111345 [An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31.]
age related macular degeneration 1 DOID_0110014 [An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1.]
epidermolysis bullosa simplex with mottled pigmentation DOID_0111346 [An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13.]
age related macular degeneration 2 DOID_0110015 [An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.]
advanced sleep phase syndrome 2 DOID_0110012 [An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25.]
lateral meningocele syndrome DOID_0111343 [A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12.]
smooth muscle cell CL_0000192
myeloproliferative disorder with eosinophilia DOID_0111344 [A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32.]
advanced sleep phase syndrome 3 DOID_0110013 [An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23.]
Alzheimer's disease 10 DOID_0110043 [An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.]
selective pituitary thyroid hormone resistance DOID_0111374 [A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2.]
Alzheimer's disease 11 DOID_0110044 [An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.]
cardiac muscle tissue of myocardium UBERON_0004493
obsolete autosomal dominant endosteal hyperostosis DOID_0111372 [An osteosclerosis characterized by benign and usually asymptomatic osteosclerosis that is not associated with an increased fracture risk and craniofacial anomalies that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13.2.]