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Metadata
ID	DOID:0080111
Name	mitochondrial complex III deficiency nuclear type 1
Definition	A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35. http://omim.org/entry/124000?search=124000&highlight=124000
Xrefs	MIM:124000
Parent Relationships	is_a mitochondrial complex III deficiency
Subclass Logical Relationships	disease has basis in some structural_variant