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Metadata
ID DOID:0050757
Name deafness-dystonia-optic neuronopathy syndrome
Definition A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria.
http://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome, http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome, http://omim.org/entry/304700, http://www.ncbi.nlm.nih.gov/books/NBK1216/
Xrefs

MESH:C535808

OMIM:304700

ORDO:3213

Alternateids

DOID:0050867

Synonyms

Deafness Dystonia Optic Atrophy Syndrome [EXACT]

Deafness Dystonia Optic Neuronopathy Syndrome [EXACT]

deafness dystonia syndrome [EXACT]

Dystonia Deafness Syndrome [EXACT]

Jensen syndrome [EXACT]

Mohr-Tranebjaerg Syndrome [EXACT]

Mohr-Tranebjaerg syndrome [EXACT]

Parent Relationships

is_a mitochondrial metabolism disease

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