OBO ID: DOID:0111499
Term Name: combined oxidative phosphorylation deficiency 37 Search Ontology:
Synonyms:
  • COXPD37
Definition: A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3. https://www.ncbi.nlm.nih.gov/pubmed/27485409
References:
Ontology: Human Disease   (DOID:0111499)
OTHER combined oxidative phosphorylation deficiency 37 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MICOS13 Combined oxidative phosphorylation deficiency 37 618329
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None