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WormBase Tree Display for DO_term: DOID:0111495

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Name Class

DOID:0111495Namecombined oxidative phosphorylation deficiency 33
StatusValid
DefinitionA combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2.
SynonymExactCOXPD33
ParentIs_aDOID:0050737
DOID:0060286
DB_infoDatabaseOMIMdisease617713
Attribute_ofGene_by_orthologyWBGene00010303