mitochondrial complex V (ATP synthase) deficiency nuclear type 4

mitochondrial complex V (ATP synthase) deficiency nuclear type 4

http://purl.obolibrary.org/obo/DOID_0060333

A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://pubmed.ncbi.nlm.nih.gov/34954817/ url:https://pubmed.ncbi.nlm.nih.gov/23599390/ ]

Synonyms: MC5DN4

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DO_rare_slim

acronym

MC5DN4

created by

emitraka

creation date

2015-03-12T16:04:59Z

has obo namespace

disease_ontology

DOID:0060333

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Subclass of:

mitochondrial complex V (ATP synthase) deficiency
disease has basis in some structural_variant