Combined Oxidative Phosphorylation Deficiency 27

Preferred Label : Combined Oxidative Phosphorylation Deficiency 27;

NCIt synonyms : COXPD27;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the CARS2 gene, encoding probable cysteine--tRNA ligase, mitochondrial, resulting in a defect in the mitochondrial oxidative phosphorylation system. It is characterized by epileptic encephalopathy, and phenotypically variable clinical findings.;

Details

Origin ID

C185238;

UMLS CUI

C5567608;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 27 [ORDO Disease]
- Combined oxidative phosphorylation defect type 27 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency 27 [OMIM Phenotype]
- combined oxidative phosphorylation deficiency 27 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 27 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency 27 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CARS2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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