All terms in DOID

Label Id Description
X-linked nephrogenic diabetes insipidus DOID_0081060 [A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28.]
nephrogenic diabetes insipidus DOID_12387 [A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH).]
nephrogenic diabetes insipidus type 2 DOID_0081061 [A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13.]
obsolete chondrogenic neoplasm DOID_3810
obsolete diabetes DOID_0081062 [A glucose metabolism disease that is characterized by high blood glucose.]
DICER1 syndrome DOID_0081063 [A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression.]
obsolete mediastinum chondroma DOID_3812
mixed phenotype acute leukemia, T/myeloid DOID_0081039 [An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens.]
acute biphenotypic leukemia DOID_9953 [An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens.]
dander OMIT_0028282 [An allergen that is dander, may trigger allergy symptoms like sneezing or red, itchy eyes. Pet dander, the source of allergens, is composed of tiny, even microscopic, proteins from flecks of skin shed by pets.]
mixed phenotype acute leukemia with BCR-ABL1 DOID_0081036 [An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR.]
mixed phenotype acute leukemia with MLL rearranged DOID_0081037 [An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner.]
mixed phenotype acute leukemia, B/myeloid DOID_0081038 [An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation.]
developmental and epileptic encephalopathy 99 DOID_0070385 [A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13.]
developmental and epileptic encephalopathy 100 DOID_0070386 [A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42.]
developmental and epileptic encephalopathy 97 DOID_0070383 [A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14.]
developmental and epileptic encephalopathy 98 DOID_0070384 [A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23.]
developmental and epileptic encephalopathy 90 DOID_0070381 [A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26.]
developmental and epileptic encephalopathy 95 DOID_0070382 [A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11.]
developmental and epileptic encephalopathy 85 DOID_0070380 [A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11.]