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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: infantile onset spinocerebellar ataxia, OHAHA SYNDROME
Xenbase Genes
:
twnk,
mpv17
| MONDO:0010060 - pharyngeal opening of pharyngotympanic tube |
| MIM:256810 - MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE); MTDPS6 |
| MIM:271245 - MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7 |
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)