Mitochondrial DNA Depletion Syndrome 12

Preferred Label : Mitochondrial DNA Depletion Syndrome 12;

NCIt synonyms : MTDPS12;

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

NCI Metathesaurus CUI : CL513034;

Details

Origin ID

C129977;

UMLS CUI

C4321247;

Automatic exact mappings (from CISMeF team)
- Mitochondrial dna depletion syndrome 12b (cardiomyopathic type), autosomal recessive [OMIM Phenotype]
DO Cross reference
- mitochondrial DNA depletion syndrome 12a [DO Concept]
- mitochondrial DNA depletion syndrome 12b [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- mitochondrial DNA depletion syndrome 12a [DO Concept]
- mitochondrial DNA depletion syndrome 12b [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SLC25A4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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