mitochondrial complex III deficiency nuclear type 8
mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has material basis in homozygous mutation in the LYRM7 gene on chromosome 5q23
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mitochondrial complex III deficiency nuclear type 8
Summary
mitochondrial complex III deficiency nuclear type 8 is a rare disease[1].
Key Facts
- mitochondrial complex III deficiency nuclear type 8's instance of is recorded as rare disease[2].
- mitochondrial complex III deficiency nuclear type 8's instance of is recorded as class of disease[3].
- mitochondrial complex III deficiency nuclear type 8's subclass of is recorded as mitochondrial complex III deficiency[4].
- mitochondrial complex III deficiency nuclear type 8's subclass of is recorded as genetic disease[5].
- mitochondrial complex III deficiency nuclear type 8's OMIM ID is recorded as 615838[6].
- mitochondrial complex III deficiency nuclear type 8's Disease Ontology ID is recorded as DOID:0080117[7].
- mitochondrial complex III deficiency nuclear type 8's genetic association is recorded as LYRM7[8].
- mitochondrial complex III deficiency nuclear type 8's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080117[9].
- mitochondrial complex III deficiency nuclear type 8's exact match is recorded as http://identifiers.org/doid/DOID:0080117[10].
- mitochondrial complex III deficiency nuclear type 8's UMLS CUI is recorded as C4014440[11].
- mitochondrial complex III deficiency nuclear type 8's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].
- mitochondrial complex III deficiency nuclear type 8's Mondo ID is recorded as MONDO_0014364[13].
- mitochondrial complex III deficiency nuclear type 8's UniProt disease ID is recorded as DI-04116[14].