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mitochondrial DNA depletion syndrome 12

Go to external page http://purl.obolibrary.org/obo/MONDO_0014175

An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy. [ NCIT:C129977 ]

Synonyms: mitochondrial DNA depletion syndrome 12 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MTDPS12B

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:15961 (OMIM:615418)
  • NCIT:C129977 (MONDO:equivalentTo)
  • UMLS:C3809443 (OMIM:615418)
  • OMIM:615418 (MONDO:equivalentTo)
  • DOID:0080335 (MONDO:equivalentTo)
  • DOID:0080130 (MONDO:directSiblingOf)
Subsets

gard_rare, rare, nord_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://purl.obolibrary.org/obo/DOID_0080335

https://omim.org/entry/615418

http://linkedlifedata.com/resource/umls/id/C3809443

http://purl.obolibrary.org/obo/NCIT_C129977

has related synonym

mitochondrial DNA depletion syndrome type 12

mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)

MTDPS12

id

MONDO:0014175

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014175

Term relations