All terms in DOID

Label Id Description
retinitis pigmentosa 54 DOID_0110364 [A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23.]
familial adult myoclonic epilepsy 3 DOID_0111695 [A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2.]
retinitis pigmentosa 28 DOID_0110365 [A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15.]
familial adult myoclonic epilepsy 6 DOID_0111696 [A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1.]
Ehrlichia chaffeensis NCBITaxon_945
Anaplasma phagocytophilum NCBITaxon_948
Anaplasmataceae NCBITaxon_942
Rickettsiales NCBITaxon_766
diffuse cystic renal dysplasia DOID_0111682 [A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder.]
osteogenesis imperfecta type 11 DOID_0110351 [An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21.]
neurofibromatosis-Noonan syndrome DOID_0111683 [A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2.]
retinitis pigmentosa 59 DOID_0110352 [A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11.]
essential fructosuria DOID_0111680 [A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3.]
obsolete Vibrio infectious disease DOID_1499
osteogenesis imperfecta type 6 DOID_0110350 [An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3.]
congenital nonspherocytic hemolytic anemia 7 DOID_0111681 [An amino acid metabolic disorder and a congenital nonspherocytic hemolytic anemia that is characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1.]
Abnormality of complement system HP_0005339
cholera DOID_1498 [A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock.]
cystic echinococcosis DOID_1495 [An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected.]
retinitis pigmentosa 67 DOID_0110359 [A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32.]