Terminology Service for NFDI4Health
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Mitochondrial DNA Depletion Syndrome 12

Go to external page http://purl.obolibrary.org/obo/NCIT_C129977

An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy. [ ]

Term info

Label

Mitochondrial DNA Depletion Syndrome 12

Synonyms
  • MTDPS12
  • Mitochondrial DNA Depletion Syndrome 12
NCI META CUI

CL513034

Preferred Name

Mitochondrial DNA Depletion Syndrome 12

Semantic Type

Disease or Syndrome

code

C129977