Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Alzheimer's disease 12	DOID_0110045	[An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22.]
fetal akinesia deformation sequence syndrome 3	DOID_0111376	[A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in DOK7 on chromosome 4p16.3.]
plant stem or spear vegetable food product	FOODON_00002156
Alzheimer's disease 13	DOID_0110046	[An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.]
fetal akinesia deformation sequence syndrome 1	DOID_0111377	[A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in MUSK on chromosome 9q31.3.]
gland of ocular region	UBERON_0015152
autosomal dominant Alport syndrome	DOID_0110032	[An Alport syndrome that has_material -basis_in heterozygous mutation in the COL4A3 gene.]
Heinz body anemia	DOID_0111363	[A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in HBA1, HBA2 or HBB on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively.]
Alzheimer's disease 9	DOID_0111364	[An Alzheimer's disease that has_material_basis_in heterozygous mutation in ABCA7 on chromosome 19p13.3.]
autosomal recessive Alport syndrome	DOID_0110033	[An Alport syndrome that has_material -basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q.]
hypotrichosis-lymphedema-telangiectasia syndrome	DOID_0111361	[A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in SOX18 on chromosome 20q13.33.]
alpha thalassemia-X-linked intellectual disability syndrome	DOID_0110030	[An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21.]
hawkinsinuria	DOID_0111362	[An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31.]
hemoglobin H disease	DOID_0110031	[An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other.]
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	DOID_0111360	[A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in SOX18 on chromosome 20q13.33.]
hyperalphalipoproteinemia 1	DOID_0111369	[A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in CETP on chromosome 16q13.]
Alzheimer's disease 6	DOID_0110038	[An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.]
Alzheimer's disease 7	DOID_0110039	[An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.]
stone fruit food product	FOODON_00002277
Beukes hip dysplasia	DOID_0111367	[An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1.]