Mitochondrial Complex V (ATP synthase) Deficiency, Mitochondrial Type 1

Preferred Label : Mitochondrial Complex V (ATP synthase) Deficiency, Mitochondrial Type 1;

NCIt synonyms : Mitochondrial Complex V Deficiency, Mitochondrial Type 1; MC5DM1;

NCIt definition : A genetic condition caused by mutation(s) in the MTATP6 gene, encoding ATP synthase subunit a. The disorder is part of a group of congenital defects of complex V (ATP synthase).;

NCI Metathesaurus CUI : CL952927;

Details

Origin ID

C186788;

UMLS CUI

C3275684;

Currated CISMeF NLP mapping
- Mitochondrial complex V (atp synthase) deficiency, mitochondrial type 1 [OMIM Phenotype]
- mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 [DO Concept]
See also inter- (CISMeF)
- Atp synthase 6 [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial complex V (atp synthase) deficiency, mitochondrial type 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- MT-ATP6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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