mitochondrial DNA depletion syndrome 7

Summary

DOID:0080126 - mitochondrial DNA depletion syndrome 7

Disease Ontology Definition:A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24.

Synonyms: OHAHA SYNDROME, infantile onset spinocerebellar ataxia,

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

: twnk, mpv17

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010060 - infantile onset spinocerebellar ataxia

MONDO:0010060 - infantile onset spinocerebellar ataxia

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 DNA depletion syndrome (is_a), mitochondrial metabolism disease (is_a)