mitochondrial complex III deficiency nuclear type 5
mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has material basis in homozygous mutation in the UQCRC2 gene on chromosome 16p12
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mitochondrial complex III deficiency nuclear type 5
Summary
mitochondrial complex III deficiency nuclear type 5 is a rare disease[1]. It is known by 4 alternative names across languages and contexts.[2]
Key Facts
- mitochondrial complex III deficiency nuclear type 5's instance of is recorded as rare disease[3].
- mitochondrial complex III deficiency nuclear type 5's instance of is recorded as class of disease[4].
- mitochondrial complex III deficiency nuclear type 5 is a type of mitochondrial complex III deficiency[5].
- mitochondrial complex III deficiency nuclear type 5 is a type of genetic disease[6].
- mitochondrial complex III deficiency nuclear type 5's genetic association is recorded as UQCRC2[7].
- mitochondrial complex III deficiency nuclear type 5's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080114[8].
- mitochondrial complex III deficiency nuclear type 5's exact match is recorded as http://identifiers.org/doid/DOID:0080114[9].
- mitochondrial complex III deficiency nuclear type 5's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1460[10].
- mitochondrial complex III deficiency nuclear type 5's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].
Why It Matters
mitochondrial complex III deficiency nuclear type 5 is known by 4 alternative names across languages and contexts.[2]