Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 37

Term ID
DOID:0111499
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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