mitochondrial complex III deficiency nuclear type 1

Summary

DOID:0080111 - mitochondrial complex III deficiency nuclear type 1

Disease Ontology 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.

Synonyms:

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: bcs1l

MIM:

MIM:124000 - mitochondrial complex iii deficiency, nuclear type 1; mc3dn1

MIM:124000 - mitochondrial complex iii deficiency, nuclear type 1; mc3dn1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): mitochondrial complex III deficiency (is_a)