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Metadata
ID DOID:0060331
Name mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Definition A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21.
http://omim.org/entry/614052
Xrefs

GARD:12965

OMIM:614052

ORDO:1194

SNOMEDCT_US_2023_03_01:718212006

UMLS_CUI:C4273660

Subsets

DO_rare_slim

Synonyms

MC5DN2 [EXACT]

neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency [EXACT]

Parent Relationships

is_a mitochondrial complex V (ATP synthase) deficiency

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