All terms in DOID

Label Id Description
autosomal recessive distal hereditary motor neuronopathy 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 [An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12.]
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.]
susceptibility to pancreatic cancer 4 MIM_614320
galactokinase deficiency DOID_14695 [A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.]
congenital bile acid synthesis defect 4 DOID_0111068 [A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.]
Stiff-Person syndrome DOID_13366 [A movement disease that is of unknown etiology characterized by progressive rigidity.]
congenital bile acid synthesis defect 2 DOID_0111069 [A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33.]
congenital bile acid synthesis defect 3 DOID_0111070 [A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12.]
obsolete congenital aortic insufficiency DOID_13376
maturity-onset diabetes of the young type 1 DOID_0111099 [A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20.]