Combined oxidative phosphorylation deficiency 25

Preferred Label : Combined oxidative phosphorylation deficiency 25;

Symbol : COXPD25;

CISMeF acronym : COXPD25;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the methionyl-tRNA synthetase 2 gene (MARS2, 609728.0004);

Laboratory abnormalities : Decreased activities of mitochondrial complexes I and IV (in fibroblasts);

Prefixed ID : #616430;

Details

Origin ID

616430;

UMLS CUI

C5567742;

Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 25 [ORDO Disease]
- Combined oxidative phosphorylation defect type 25 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 25 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 25 [DO Concept]
Genes related to phenotype
- Methionyl-trna synthetase 2 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Congenital onset [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Depressed nasal bridge [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Pectus carinatum [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Vascular dilatation [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Combined oxidative phosphorylation defect type 25 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 25 (disorder) [SNOMED CT concept]

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