Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type)

Preferred Label : Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type);

NCIt synonyms : MTDPS2;

NCIt definition : An autosomal recessive subtype of mitochondrial depletion syndrome caused by mutation(s) in the TK2 gene, encoding thymidine kinase 2, mitochondrial. It is characterized by muscle weakness associated with mtDNA depletion in skeletal muscle.;

Details

Origin ID

C185236;

UMLS CUI

C3149750;

Currated CISMeF NLP mapping
- Mitochondrial dna depletion syndrome 2 (myopathic type) [OMIM Phenotype]
- TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) [SNOMED CT concept]
- mitochondrial DNA depletion syndrome 2 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial dna depletion syndrome 2 (myopathic type) [OMIM Phenotype]
- TK2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- TK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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