WormBase Tree Display for DO_term: DOID:0112137
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DOID:0112137 | Name | combined oxidative phosphorylation deficiency 51 | |||
---|---|---|---|---|---|
Status | Valid | ||||
Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2. | ||||
Synonym | Exact | COXPD51 | |||
Parent | Is_a | DOID:0050737 | |||
DOID:0060286 | |||||
DB_info | Database | OMIM | disease | 619057 | |
Attribute_of | Gene_by_orthology | WBGene00002804 |