Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Loeys-Dietz syndrome	DOID_0050466	[A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects.]
primary coenzyme Q10 deficiency 1	DOID_0070238	[A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of COQ2 on chromosome 4q21.22-q21.23.]
Loeys-Dietz syndrome 1	DOID_0070235	[A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.]
Loeys-Dietz syndrome 5	DOID_0070236	[A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24.]
Loeys-Dietz syndrome 4	DOID_0070233	[A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41.]
Loeys-Dietz syndrome 2	DOID_0070234	[A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24.]
isolated growth hormone deficiency type II	DOID_0060872	[An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3.]
isolated growth hormone deficiency	DOID_0060870	[A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones.]
isolated growth hormone deficiency type IA	DOID_0060873	[An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material_basis_in null mutations in the GH1 gene on chromosome 17q23.3.]
isolated growth hormone deficiency type IB	DOID_0060874	[An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively.]
isolated growth hormone deficiency type III	DOID_0060875	[An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has material_basis_in mutation in the BTK gene on chromosome Xq22.1.]
Magnoliopsida	NCBITaxon_3398
bullous congenital ichthyosiform erythroderma	DOID_0060877	[An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13.]
hypoparathyroidism-deafness-renal disease syndrome	DOID_0060878	[A characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14.]
primary hypomagnesemia	DOID_0060879	[A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life.]
metal metabolism disorder	DOID_896	[An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.]
familial partial lipodystrophy type 6	DOID_0070206	[A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13.]
familial partial lipodystrophy	DOID_0050440	[A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.]
familial partial lipodystrophy type 1	DOID_0070207	[A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body.]
familial partial lipodystrophy type 3	DOID_0070204	[A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25.]