WormBase Tree Display for DO_term: DOID:0111495
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DOID:0111495 | Name | combined oxidative phosphorylation deficiency 33 | |||
---|---|---|---|---|---|
Status | Valid | ||||
Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2. | ||||
Synonym | Exact | COXPD33 | |||
Parent | Is_a | DOID:0050737 | |||
DOID:0060286 | |||||
DB_info | Database | OMIM | disease | 617713 | |
Attribute_of | Gene_by_orthology | WBGene00010303 |