All terms in DOID

Label Id Description
mitochondrial complex IV deficiency nuclear type 6 DOID_0080358 [A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24.]
Rhipicephalus pumilio NCBITaxon_127007
mitochondrial complex IV deficiency nuclear type 9 DOID_0080359 [A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11.]
osteoarthritis susceptibility 5 MIM_612400
osteoarthritis susceptibility 6 MIM_612401
continuous fever SYMP_0000888 [A fever that is characterized by a temperature remaining above normal throughout the day and which does not fluctuate more than 1 degree Celsius in 24 hours.]
X-linked recessive hypophosphatemic rickets DOID_0080353 [A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22.]
rickets DOID_10609 [A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone.]
remittent fever SYMP_0000889 [A fever that is characterized by a fever where the temperature remains above normal throughout the day and fluctuates more than 1 degree Celsius in 24 hours.]
Phelan-McDermid syndrome DOID_0080354 [A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.]
hyperpyrexia SYMP_0000886 [A fever that is characterized by an extreme elevation of body temperature greater than, or equal to, 41.5 degrees Celsius (106.7 degrees Fahrenheit).]
Pel-Epstein fever SYMP_0000887 [A fever that is characterized by association with Hodgkin's lymphoma, where the fever alternates weekly from high to low.]
IgG4-related disease DOID_0080356 [An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs.]
Mus <genus> NCBITaxon_10088
Murinae NCBITaxon_39107
rosacea DOID_8881
obsolete Paget's disease and intraductal carcinoma of breast DOID_7554
obsolete HIV leukoencephalopathy DOID_7555 [A HIV encephalopathy that results_in inflammation located_in white matter of neuraxis, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom weakness, has_symptom paralysis, has_symptom vision loss, has_symptom impaired speech, and has_symptom cognitive deterioration.]
infiltrating bladder urothelial carcinoma sarcomatoid variant DOID_7553
lower lip cancer DOID_8883