mitochondrial complex V (ATP synthase) deficiency nuclear type 6

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Summary

Literature (0)

DOID:0111749 - mitochondrial complex V (ATP synthase) deficiency nuclear type 6

Disease Ontology Definition:A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33.

Synonyms: MC5DN6,

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

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

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

Parent(s): mitochondrial complex V (ATP synthase) deficiency (is_a)