Metadata | |
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ID | DOID:0111495 |
Name | combined oxidative phosphorylation deficiency 33 |
Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2. https://www.ncbi.nlm.nih.gov/pubmed/28942965 |
Xrefs | |
Synonyms |
COXPD33 [EXACT] |
Parent Relationships |