Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
primary failure of tooth eruption	DOID_0111341	[A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in PTHR1 on chromosome 3p21.31.]
Rhizomelia	HP_0008905	[Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).]
advanced sleep phase syndrome 1	DOID_0110011	[An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37.]
advanced sleep phase syndrome	DOID_0050628	[A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.]
dermatopathia pigmentosa reticularis	DOID_0111342	[An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in KRT14 on chromosome 17q21.2.]
dominant optic atrophy plus syndrome	DOID_0111340	[A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in OPA1 on chromosome 3q29.]
age related macular degeneration 6	DOID_0110018	[An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13.]
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 COL7A1 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 COL2A1 on chromosome 12q13.11.]
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.]
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 2	DOID_0110015	[An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22.]
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.]
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 NOTCH3 on chromosome 19p13.12.]
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.]