All terms in DOID

Label Id Description
fetal akinesia deformation sequence syndrome 1 DOID_0111377 [A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3.]
Alzheimer's disease 13 DOID_0110046 [An Alzheimer's disease that is characterized by an associated with variation in the region 1q21.]
gland of ocular region UBERON_0015152
susceptibility to hirschsprung disease 7 MIM_606875
susceptibility to hirschsprung disease 6 MIM_606874
autosomal dominant Alport syndrome 3A 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 the HBA1, HBA2 or HBB genes 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 the ABCA7 gene 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 the SOX18 gene 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 the SOX18 gene on chromosome 20q13.33.]
Alzheimer's disease 6 DOID_0110038 [An Alzheimer's disease that is characterized by an associated with variation in the region 10q24.]
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 the CETP gene on chromosome 16q13.]
Alzheimer's disease 7 DOID_0110039 [An Alzheimer's disease that is characterized by an associated with variation in the region 10p13.]
cherry food product FOODON_00001717
stone fruit food product FOODON_00002277
Beukes hip dysplasia DOID_0111367 [An osteochondrodysplasia that is 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.]