Mitochondrial dna depletion syndrome 20 (mngie type)

Preferred Label : Mitochondrial dna depletion syndrome 20 (mngie type);

Symbol : MTDPS20;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mitochondrial neurogastrointestinal encephalomyopathy syndrome, lig3-related;

Prefixed ID : #619780;

Details

Origin ID

619780;

UMLS CUI

C5676934;

Genes related to phenotype
- Ligase III, dna, atp-dependent [OMIM gene]
ORDO concept(s)
- Mitochondrial neurogastrointestinal encephalomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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