All terms in DOID

Label Id Description
congenital disorder of glycosylation type IIy DOID_0051052 [A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22.]
congenital disorder of glycosylation type IIz DOID_0051053 [A congenital disorder of glycosylation type II that is characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities and that has_material_basis_in homozygous mutation in the CAMLG gene on chromosome 5q23.]
acute calcific periarthritis DOID_0051058 [A periarthritis that is characterized by the juxta-articular deposition of calcium hydroxyapatite crystals and local inflammation.]
periarthritis DOID_2964 [An arthritis that is characterized by inflammation of the tissues surrounding a joint. It is a common cause of joint pain and stiffness.]
autosomal recessive Segawa syndrome DOID_0051059 [A dystonia that is characterized by onset in infancy of dopa-responsive dystonia and that has_material_basis_in homozygous or compound heterozygous mutation in the tyrosine hydroxylase gene (TH) on chromosome 11p15.]
immunodeficiency 113 DOID_0051056 [A primary immunodeficiency disease that is characterized by recurrent infections and usually show features of autoimmunity and autoinflammation, such as hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants, and that has_material_basis_in homozygous mutation in the ARPC5 gene on chromosome 1q25.]
avoidant/restrictive food intake disorder DOID_0051057 [An eating disorder that is characterized by a persistent pattern of avoidant or selective eating that fails to meet nutritional needs and results in significant nutritional deficiency or weight loss.]
Gadus morhua NCBITaxon_8049
Gadus NCBITaxon_8048
Gadidae NCBITaxon_8045
congenital disorder of glycosylation type IIv DOID_0051050 [A congenital disorder of glycosylation type II that is characterized by neurodevelopmental delay and variable facial dysmorphisms and that has_material_basis_in homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25.]
congenital disorder of glycosylation type IIw DOID_0051051 [A congenital disorder of glycosylation type II that is characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins and that has_material_basis_in heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23.]
Cladophialophora bantiana NCBITaxon_89940
maturity-onset diabetes of the young type 13 DOID_0111110 [A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15.]
maturity-onset diabetes of the young DOID_0050524 [A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects.]
maturity-onset diabetes of the young type 14 DOID_0111111 [A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14.]
congenital nonspherocytic hemolytic anemia 1 DOID_0051003 [A congenital nonspherocytic hemolytic anemia that has_material_basis_in mutation in the G6PD gene on chromosome Xq28, and is the most common genetic form of chronic and drug-, food-, or infection-induced hemolytic anemia.]
congenital nonspherocytic hemolytic anemia 3 DOID_0051004 [A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the AK1 gene on chromosome 9q34.]
congenital dyserythropoietic anemia type IIIb DOID_0051001 [A congenital dyserythropoietic anemia characterized by macrocytic anemia, aberrant giant multinucleated erythroblasts in the bone marrow, and skull defects secondary to severe anemia with ineffective erythropoiesis and that has_material_basis_in homozygous or compound heterozygous mutation in the RACGAP1 gene on chromosome 12q13.]
congenital dyserythropoietic anemia DOID_1338 [A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood.]