POLG-Related Spectrum Disorders

Preferred Label : POLG-Related Spectrum Disorders;

NCIt definition : A group of disorders with overlapping phenotypes caused by mutation(s) of the POLG gene, encoding DNA polymerase subunit gamma-1. Phenotypic variations include Alpers-Huttenlocher syndrome (AHS), childhood myocerebrohepatopathy spectrum (MCHS), myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neuropathy spectrum (ANS), autosomal recessive progressive external ophthalmoplegia (arPEO), and autosomal dominant progressive external ophthalmoplegia (adPEO).;

NCI Metathesaurus CUI : CL936863;

Details

Origin ID

C157267;

UMLS CUI

C4763519;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- POLG Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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