Search Ontology:

Human Disease

mitochondrial metabolism disease

Term ID

DOID:700

Synonyms

Definition

An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. http://en.wikipedia.org/wiki/Mitochondrial_disease

References

GARD:7048
MESH:D028361
SNOMEDCT_US_2023_03_01:240096000
UMLS_CUI:C0751651

Ontology

Human Disease ( DOID:700 )

Relationships

is a type of: inherited metabolic disorder

inherited metabolic disorder Show first 5 Terms
has subtype: adult-onset ataxia and polyneuropathy coenzyme Q10 deficiency disease combined oxidative phosphorylation deficiency cytochrome-c oxidase deficiency disease deafness-dystonia-optic neuronopathy syndrome ... Show All 19 Terms

adult-onset ataxia and polyneuropathy coenzyme Q10 deficiency disease combined oxidative phosphorylation deficiency cytochrome-c oxidase deficiency disease deafness-dystonia-optic neuronopathy syndrome ethylmalonic encephalopathy GRACILE syndrome mitochondrial complex I deficiency mitochondrial complex II deficiency mitochondrial complex III deficiency mitochondrial complex V (ATP synthase) deficiency mitochondrial DNA depletion syndrome mitochondrial pyruvate carrier deficiency mitochondrial short-chain enoyl-CoA hydratase 1 deficiency multiple mitochondrial dysfunctions syndrome NARP syndrome neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities Pearson syndrome sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models