Mitochondrial DNA Depletion Syndrome-9

Preferred Label : Mitochondrial DNA Depletion Syndrome-9;

NCIt synonyms : MTDPS9;

NCIt definition : A autosomal recessive condition caused by mutation(s) in the SUCLG1 gene, encoding succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial. It is characterized by infantile onset of hypotonia, lactic acidosis, developmental delay, cognitive impairment, and excretion of methylmalonic acid.;

NCI Metathesaurus CUI : CL1771893;

Details

Origin ID

C183531;

UMLS CUI

C3151476;

Currated CISMeF NLP mapping
- Mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) [OMIM Phenotype]
- mitochondrial DNA depletion syndrome 9 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial dna depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SUCLG1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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