Combined Oxidative Phosphorylation Deficiency 8

Preferred Label : Combined Oxidative Phosphorylation Deficiency 8;

NCIt synonyms : Combined Oxidative Phosphorylation Defect Type 8; COXPD8;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the AARS2 gene, encoding alanine--tRNA ligase, mitochondrial. It is characterized by lethal infantile hypertrophic cardiomyopathy. Skeletal and brain involvement may be apparent.;

Details

Origin ID

C180851;

UMLS CUI

C4518839;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 8 [ORDO Disease]
- Combined oxidative phosphorylation defect type 8 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency 8 [OMIM Phenotype]
- combined oxidative phosphorylation deficiency 8 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 8 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency 8 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- AARS2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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