loading...| Preferred Name | cytochrome-c oxidase deficiency disease | |
| Synonyms |
MITOCHONDRIAL COMPLEX IV DEFICIENCY |
|
| Definitions |
A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_3762 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
MITOCHONDRIAL COMPLEX IV DEFICIENCY |
|
| database_cross_reference |
UMLS_CUI:C0268237 MESH:D030401 SNOMEDCT_US_2023_03_01:237991006 OMIM:PS220110 GARD:48 NCI:C98910 |
|
| definition |
A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. OMIM mapping confirmed by DO. [SN]. |
|
| has exact synonym |
MITOCHONDRIAL COMPLEX IV DEFICIENCY |
|
| has symptom | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:3762 |
|
| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
| label |
cytochrome-c oxidase deficiency disease |
|
| notation |
DOID:3762 |
|
| note |
A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. OMIM mapping confirmed by DO. [SN]. |
|
| preferred label |
cytochrome-c oxidase deficiency disease |
|
| prefLabel |
cytochrome-c oxidase deficiency disease |
|
| subClassOf |