multiple mitochondrial dysfunctions syndrome 2

Summary

DOID:0080134 - multiple mitochondrial dysfunctions syndrome 2

Disease Ontology Definition:A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13.

Synonyms: BOLA3 deficiency, multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia,

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

: bola3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013675 - multiple mitochondrial dysfunctions syndrome 2

MONDO:0013675 - multiple mitochondrial dysfunctions syndrome 2

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)