All terms in DOID

Label Id Description
gout DOID_13189 [An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.]
AMED syndrome DOID_0080952 [A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance.]
amelogenesis imperfecta type 1J DOID_0080953 [An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13.]
megaesophagus DOID_13186
esophageal diverticulosis DOID_13185
alopecia-mental retardation syndrome 4 DOID_0080950 [An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22.]
arrhythmogenic right ventricular dysplasia 14 DOID_0080959 [An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12.]
arrhythmogenic right ventricular cardiomyopathy DOID_0050431 [An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.]
childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered DOID_0080956 [A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children.]
primary hypoalphalipoproteinemia 1 DOID_0080957 [A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease.]
hypolipoproteinemia DOID_1387 [A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood.]
primary hypoalphalipoproteinemia 2 DOID_0080958 [A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23.]
palladium allergic contact dermatitis DOID_0040055 [An allergic contact dermatitis that has_allergic_trigger palladium.]
cobalt allergic asthma DOID_0040054 [An allergic asthma that has_allergic_trigger cobalt atom.]
cobalt allergic contact dermatitis DOID_0040053 [An allergic contact dermatitis that has_allergic_trigger cobalt atom.]
diphenylmethane-4,4'-diisocyanate allergic contact dermatitis DOID_0040052 [An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate.]
potassium dichromate allergic contact dermatitis DOID_0040059 [An allergic contact dermatitis that has_allergic_trigger potassium dichromate.]
1,4-phenylenediamine allergic contact dermatitis DOID_0040058 [An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine.]
benzoic acid allergic contact dermatitis DOID_0040057 [An allergic contact dermatitis that has_allergic_trigger benzoic acid.]
chromium allergic contact dermatitis DOID_0040056 [An allergic contact dermatitis that has_allergic_trigger chromium atom.]