Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
susceptibility to malignant hyperthermia 1	OMIM_145600
malignant hyperthermia	DOID_8545	[A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature.]
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1	DOID_0080357	[A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13.]
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2	DOID_0080358	[A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24.]
Rhipicephalus pumilio	NCBITaxon_127007
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3	DOID_0080359	[A fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11.]
continuous fever	SYMP_0000888	[Continuous fever is a fever where temperature remains above normal throughout the day and 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	[Remittent fever is a fever where the temperature remains above normal throughout the day and fluctuates more than 1degree Celsius in 24 hours.]
Phelan-McDermid syndrome	DOID_0080354	[A chromosome deletion syndrome that is 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	[Hyperpyrexia is a fever with an extreme elevation of body temperature greater than or equal to 41.5 degree Celsius (106.7 degree Fahrenheit).]
Pel-Epstein fever	SYMP_0000887	[Pel-Epstein fever is a fever that is associated with Hodgkin's lymphoma where the fever alternates weekly from high to low.]
IgG4-related disease	DOID_0080356	[An autoimmune hypersensitivity 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
urethral disease	DOID_732	[A urinary system disease that is located_in the urethra.]
Neisseria gonorrhoeae	NCBITaxon_485
fallopian tube	UBERON_0003889