Combined oxidative phosphorylation deficiency 23

Preferred Label : Combined oxidative phosphorylation deficiency 23;

Symbol : COXPD23;

CISMeF acronym : COXPD23;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the GTP-binding protein 3 gene (GTPBP3, 608536.0001);

Laboratory abnormalities : Increased serum lactate;

Prefixed ID : #616198;

Details

Origin ID

616198;

UMLS CUI

C5567743;

Automatic exact mappings (from CISMeF team)
- GTPBP3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Combined Oxidative Phosphorylation Deficiency 23 [NCIt concept]
- Combined oxidative phosphorylation defect type 23 [ORDO Disease]
- Combined oxidative phosphorylation defect type 23 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 23 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 23 [DO Concept]
Genes related to phenotype
- Gtp-binding protein 3 [OMIM gene]
HPO term(s)
- Arrhythmia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Congestive heart failure [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Intrauterine growth retardation [HPO term]
- Lactic acidosis [HPO term]
- Seizure [HPO term]
- Variable expressivity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Combined oxidative phosphorylation defect type 23 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined Oxidative Phosphorylation Deficiency 23 [NCIt concept]
- Combined oxidative phosphorylation defect type 23 (disorder) [SNOMED CT concept]

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