Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 41

Term ID
DOID:0112119
Synonyms
  • COXPD41
Definition
A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3. https://pubmed.ncbi.nlm.nih.gov/30283131/
References
Ontology
Human Disease   ( DOID:0112119 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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