fatal infantile encephalocardiomyopathy
mitochondrial metabolism disease that has material basis in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase
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fatal infantile encephalocardiomyopathy
Summary
fatal infantile encephalocardiomyopathy is a rare disease[1].
Key Facts
- fatal infantile encephalocardiomyopathy's instance of is recorded as rare disease[2].
- fatal infantile encephalocardiomyopathy's instance of is recorded as class of disease[3].
- fatal infantile encephalocardiomyopathy's subclass of is recorded as mitochondrial disease[4].
- fatal infantile encephalocardiomyopathy's OMIM ID is recorded as 604377[5].
- fatal infantile encephalocardiomyopathy's KEGG ID is recorded as H01200[6].
- fatal infantile encephalocardiomyopathy's Disease Ontology ID is recorded as DOID:0050713[7].
- fatal infantile encephalocardiomyopathy's Orphanet ID is recorded as 1561[8].
- fatal infantile encephalocardiomyopathy's genetic association is recorded as SCO2[9].
- fatal infantile encephalocardiomyopathy's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050713[10].
- fatal infantile encephalocardiomyopathy's exact match is recorded as http://identifiers.org/doid/DOID:0050713[11].
- fatal infantile encephalocardiomyopathy's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1561[12].
- fatal infantile encephalocardiomyopathy's UMLS CUI is recorded as C1858424[13].
- fatal infantile encephalocardiomyopathy's UMLS CUI is recorded as C4273730[14].
- fatal infantile encephalocardiomyopathy's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- fatal infantile encephalocardiomyopathy's Mondo ID is recorded as MONDO_0011451[16].