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WormBase Tree Display for DO_term: DOID:0060331

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Name Class

DOID:0060331Namemitochondrial complex V (ATP synthase) deficiency nuclear type 2
StatusValid
DefinitionA mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21.
SynonymExactMC5DN2
neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
ParentIs_aDOID:0111143
DB_infoDatabaseOMIMdisease614052
Attribute_ofGene_by_orthologyWBGene00009330