Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0060537 - mitochondrial complex II deficiency


Disease Ontology Definition:A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23.

Synonyms: isolated mitochondrial respiratory chain complex II deficiency, isolated succinate-CoQ reductase deficiency, isolated succinate-coenzyme Q reductase deficiency, isolated succinate-ubiquinone reductase deficiency,

Xenbase Genes : sdha, sdhb, sdhd

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009641 - obsolete mitochondrial complex II deficiency


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): genetic disease (is_a), mitochondrial metabolism disease (is_a)