deafness-dystonia-optic neuronopathy syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0050757


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. [ url:http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome url:http://omim.org/entry/304700 http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007646 url:http://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome http://purl.obolibrary.org/obo/ECO_0007637 url:http://www.ncbi.nlm.nih.gov/books/NBK1216/ http://purl.obolibrary.org/obo/ECO_0007638 ]

Synonyms: Dystonia Deafness Syndrome deafness dystonia syndrome Deafness Dystonia Optic Neuronopathy Syndrome Jensen syndrome Deafness Dystonia Optic Atrophy Syndrome Mohr-Tranebjaerg syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C535808
  • ORDO:3213
  • MIM:304700
Subsets

DO_rare_slim

created by

lschriml

creation date

2013-01-16T01:20:50Z

has alternative id

DOID:0050867

has obo namespace

disease_ontology

id

DOID:0050757