mitochondrial complex III deficiency nuclear type 8

Summary

DOID:0080117 - mitochondrial complex III deficiency nuclear type 8

Disease Ontology Definition:A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23.

Synonyms:

Xenbase 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

: lyrm7

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014364 - mitochondrial complex III deficiency nuclear type 8

MONDO:0014364 - mitochondrial complex III deficiency nuclear type 8

MIM:

MIM:615838 - MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

MIM:615838 - MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

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

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

Parent(s): genetic disease (is_a), mitochondrial complex III deficiency (is_a)