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mitochondrial complex V (ATP synthase) deficiency nuclear type 2

Go to external page http://purl.obolibrary.org/obo/DOID_0060331

A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. [ url:http://omim.org/entry/614052 http://purl.obolibrary.org/obo/ECO_0007636 ]

Synonyms: neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency MC5DN2

This is just here as a test because I lose it

Term information

database cross reference
  • SNOMEDCT_US_2023_03_01:718212006
  • GARD:12965
  • ORDO:1194
  • MIM:614052
  • UMLS_CUI:C4273660
Subsets

DO_rare_slim

acronym
MC5DN2

created by

emitraka

creation date

2015-03-12T16:04:59Z

has obo namespace

disease_ontology

id

DOID:0060331