multiple mitochondrial dysfunctions syndrome 3

Summary

DOID:0080135 - multiple mitochondrial dysfunctions syndrome 3

Disease Ontology Definition:A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42.

Synonyms: IBA57 deficiency

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

: iba57, vti1a

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014132 - multiple mitochondrial dysfunctions syndrome 3

MONDO:0014132 - multiple mitochondrial dysfunctions syndrome 3

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

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

Parent(s): autosomal recessive disease (is_a), mitochondrial metabolism disease (is_a), multiple mitochondrial dysfunctions syndrome (is_a)