Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
myeloproliferative disorder with eosinophilia	DOID_0111344	[A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of ETV6 and PDGFRB formed by a translocation from chromosome 12 to chromosome 5q32.]
Alzheimer's disease 10	DOID_0110043	[An Alzheimer's disease that is characterized by an associated with variation in the region 7q36.]
selective pituitary thyroid hormone resistance	DOID_0111374	[A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in THRB on chromosome 3p24.2.]
Alzheimer's disease 11	DOID_0110044	[An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1.]
fetal akinesia deformation sequence syndrome	DOID_0111375	[A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction.]
cardiac muscle tissue of myocardium	UBERON_0004493
autosomal dominant endosteal hyperostosis	DOID_0111372	[An osteosclerosis characterized by benign and usually asymptomatic osteosclerosis that is not associated with an increased fracture risk and craniofacial anomalies that has_material_basis_in heterozygous mutation in LRP5 on chromosome 11q13.2.]
Alzheimer's disease 8	DOID_0110041	[An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21.]
Alzheimer's disease 3	DOID_0110042	[An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24.]
familial progressive hyperpigmentation with or without hypopigmentation	DOID_0111373	[A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in KITLG on chromosome 12q21.32.]
apolipoprotein C-III deficiency	DOID_0111370	[A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in APOC3 on chromosome 11q23.3.]
cholesterol-ester transfer protein deficiency	DOID_0111368	[A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood.]
isolated hyperchlorhidrosis	DOID_0111371	[A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in CA12 on chromosome 15q22.2.]
Alzheimer's disease 4	DOID_0110040	[An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42.]
Apodemus agrarius	NCBITaxon_39030
Alzheimer's disease 17	DOID_0110049	[An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2.]
Alzheimer's disease 14	DOID_0110047	[An Alzheimer's disease that is characterized by an associated with variation in the region 1q25.]
fetal akinesia deformation sequence syndrome 2	DOID_0111378	[A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in RAPSN on chromosome 11p11.2.]
fetal akinesia deformation sequence syndrome 4	DOID_0111379	[A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in NUP88 on chromosome 17p13.2.]
Alzheimer's disease 15	DOID_0110048	[An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24.]