Combined Oxidative Phosphorylation Deficiency 23

Preferred Label : Combined Oxidative Phosphorylation Deficiency 23;

NCIt synonyms : COXPD23;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the GTPBP3 gene, encoding tRNA modification GTPase GTPBP3, mitochondrial. It is characterized by childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms.;

Details

Origin ID

C187986;

UMLS CUI

C5567743;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 23 [ORDO Disease]
- Combined oxidative phosphorylation defect type 23 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency 23 [OMIM Phenotype]
- combined oxidative phosphorylation deficiency 23 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 23 (disorder) [SNOMED CT concept]
- Combined oxidative phosphorylation deficiency 23 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- GTPBP3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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