Combined oxidative phosphorylation deficiency 48

Preferred Label : Combined oxidative phosphorylation deficiency 48;

Symbol : COXPD48;

CISMeF acronym : COXPD48;

Type : Phenotype, molecular basis known;

Prefixed ID : #619012;

Details

Origin ID

619012;

UMLS CUI

C5436602;

Currated CISMeF NLP mapping
- combined oxidative phosphorylation deficiency 48 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 48 [DO Concept]
Genes related to phenotype
- Nop2/sun rna methyltransferase family, member 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral white matter atrophy [HPO term]
- Decreased activity of mitochondrial complex I [HPO term]
- Decreased activity of mitochondrial complex III [HPO term]
- Decreased activity of mitochondrial complex IV [HPO term]
- External ophthalmoplegia [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hyperintensity of cerebral white matter on MRI [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Lactic acidosis [HPO term]
- Microcephaly [HPO term]
- Muscle weakness [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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