All terms in DOID
Label | Id | Description |
---|---|---|
retinitis pigmentosa 33 | DOID_0110366 | [A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11.] |
proprotein convertase 1/3 deficiency | DOID_0111698 | [A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in PCSK1 on chromosome 5q15.] |
retinitis pigmentosa 38 | DOID_0110367 | [A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13.] |
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 MARCHF6 on chromosome 5p15.2.] |
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 6 | DOID_0111696 | [A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in TNRC6A on chromosome 16p12.1.] |
retinitis pigmentosa 28 | DOID_0110365 | [A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15.] |
susceptibility to restless legs syndrome 6 | OMIM_611185 | |
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 BICC1 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 syndrome 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 | |
glutamate-cysteine ligase deficiency | DOID_0111681 | [An amino acid metabolic disorder characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in GCLC on chromosome 6p12.1.] |
osteogenesis imperfecta type 6 | DOID_0110350 | [An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3.] |
Abnormality of complement system | HP_0005339 | [An abnormality of the complement system.] |
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.] |