All terms in DOID

Label Id Description
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations DOID_0111403 [A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13.]
obsolete resectable duodenal carcinoma DOID_6071
Dothideomycetidae NCBITaxon_451867
congenital dyserythropoietic anemia type IVa DOID_0111400 [A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13.]
congenital dyserythropoietic anemia type II DOID_0111401 [A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23.]
premature ejaculation DOID_13709
urinary tract non-invasive transitional cell neoplasm DOID_6065
exudative vitreoretinopathy 5 DOID_0111408 [An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the TSPAN12 gene on chromosome 7q31.31.]
exudative vitreoretinopathy 3 DOID_0111409 [An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12.]
cerebral primitive neuroectodermal tumor DOID_7398
Fraser syndrome 3 DOID_0111406 [A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3.]
Fraser syndrome 2 DOID_0111407 [A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3.]
Gammainfluenzavirus NCBITaxon_197913
anodontia DOID_13714 [A tooth disease that is characterized by complete absence of permanent teeth.]
dental fluorosis DOID_13711 [A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation.]
superficial urinary bladder cancer DOID_7371 [A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area.]
obsolete disseminated squamous cell carcinoma DOID_6031
vulvar keratinizing squamous cell carcinoma DOID_7363 [A vulva squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization.]
obsolete organic anxiety disorder DOID_7364
myeloid leukemia DOID_8692 [A leukemia that is located_in myeloid tissue.]