mitochondrial complex V (ATP synthase) deficiency nuclear type 3

mitochondrial complex V (ATP synthase) deficiency nuclear type 3

http://purl.obolibrary.org/obo/DOID_0060332

A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. [ url:https://pubmed.ncbi.nlm.nih.gov/20566710/ ]

Synonyms: MC5DN3

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This is just here as a test because I lose it

Term information

database cross reference

MIM:614053

Subsets

DO_rare_slim

acronym

MC5DN3

created by

emitraka

creation date

2015-03-12T16:04:59Z

has obo namespace

disease_ontology

DOID:0060332

Term relations

Subclass of:

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