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Metadata
ID	DOID:0080126
Name	mitochondrial DNA depletion syndrome 7
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. https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia, https://www.ncbi.nlm.nih.gov/pubmed/18775955, https://www.ncbi.nlm.nih.gov/pubmed/30391088
Xrefs	GARD:4062 MESH:C535523 OMIM:271245
Alternateids	DOID:0050556
Subsets	DO_rare_slim
Synonyms	infantile onset spinocerebellar ataxia [EXACT] OHAHA SYNDROME [EXACT]
Parent Relationships	is_a mitochondrial DNA depletion syndrome is_a autosomal recessive disease