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Ontology Browser

Term:
Leber hereditary optic neuropathy and dystonia (DOID:0111755)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (0) Bonobo: (0) Dog: (1) Squirrel: (0) Pig: (1)
Parent Terms Term With Siblings Child Terms
dystonia +     
Leber plus disease +     
Amyotrophic Dystonic Paraplegia 
Bilateral Striatal Necrosis with Dystonia  
childhood onset GLUT1 deficiency syndrome 2  
deafness-dystonia-optic neuronopathy syndrome  
dystonia 12  
dystonia 21 
DYSTONIA 28, CHILDHOOD-ONSET  
dystonia 5  
dystonia 9  
Dystonia with Cerebellar Atrophy 
Dystonia with Ringbinden 
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES  
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
focal dystonia +   
generalized dystonia +   
hypermanganesemia with dystonia +   
Juvenile-Onset Dystonia  
Leber hereditary optic neuropathy and dystonia  
A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I. (DO)
Leber hereditary optic neuropathy with demyelinating disease of CNS 
Leukoencephalopathy with Dystonia and Motor Neuropathy  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Mitochondrial Dystonia  
multifocal dystonia +   
myoclonic dystonia +   
Parkinson's disease 14  
Parkinsonism-Dystonia, Infantile +   
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome  
Segawa Syndrome, Autosomal Recessive  
segmental dystonia +   
sepiapterin reductase deficiency  
SIDDIQI SYNDROME  
torsion dystonia 17 

Synonyms
Exact Synonyms: LDYT ;   Leber Hereditary Optic Neuropathy With Dystonia ;   Leber optic atrophy with dystonia ;   Marsden Syndrome ;   familial dystonia with visual failure and striatal lucencies
Primary IDs: MESH:C536024
Alternate IDs: OMIM:500001
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/17562939 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19458970 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3711913 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3736869 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8644732 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.