WormBase Tree Display for DO_term: DOID:0112114
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DOID:0112114 | Name | combined oxidative phosphorylation deficiency 47 | |||
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Status | Valid | ||||
Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13. | ||||
Synonym | Exact | COXPD47 | |||
Parent | Is_a | DOID:0050737 | |||
DOID:0060286 | |||||
DB_info | Database | OMIM | disease | 618958 | |
Attribute_of | Gene_by_orthology | WBGene00012830 |