Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Fanconi anemia complementation group V	DOID_0111080	[A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36.]
Fanconi anemia	DOID_13636	[A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.]
Fanconi anemia complementation group T	DOID_0111081	[A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32.]
congenital bile acid synthesis defect 5	DOID_0111066	[A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21.]
obsolete chronobiology disease	DOID_13364
congenital bile acid synthesis defect 6	DOID_0111067	[A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14.]
thrombocytopenia-absent radius syndrome	DOID_14699
distal spinal muscular atrophy 1	DOID_0111064	[A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.]
distal spinal muscular atrophy 2	DOID_0111065	[A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13.]
obsolete nephrotic syndrome with lesion of proliferative glomerulonephritis	DOID_13361
familial hypobetalipoproteinemia 1	DOID_0111062	[A hypobetalipoproteinemia that has material_basis_in mutation in the APOB gene on chromosome 2p24.]
hypobetalipoproteinemia	DOID_1390	[A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats.]
hyperphosphatemic familial tumoral calcinosis	DOID_0111063	[A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.]
Ambras type hypertrichosis universalis congenita	DOID_0111060	[A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has material_basis_in chromosomal abnormalities in the region 8q22.]
familial hypobetalipoproteinemia 2	DOID_0111061	[A hypobetalipoproteinemia that has material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31.]
Smith-Lemli-Opitz syndrome	DOID_14692
tinea manuum	DOID_13369	[A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling.]
Clouston syndrome	DOID_14693
tinea profunda	DOID_13368	[A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses.]
Johanson-Blizzard syndrome	DOID_14694	[A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner.]