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WormBase Tree Display for DO_term: DOID:0111498

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Name Class

DOID:0111498Namecombined oxidative phosphorylation deficiency 22
StatusValid
DefinitionA combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1.
SynonymExactCOXPD22
ParentIs_aDOID:0050737
DOID:0060286
DB_infoDatabaseOMIMdisease616045
Attribute_ofGene_by_orthologyWBGene00010419