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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) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
dystonia +     
Leber plus disease +     
Amyotrophic Dystonic Paraplegia 
Bilateral Striatal Necrosis with Dystonia  
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities  
childhood-onset GLUT1 deficiency syndrome 2  
deafness-dystonia-optic neuronopathy syndrome  
dopamine transporter deficiency syndrome +   
dystonia 12  
dystonia 21 
dystonia 22, adult-onset  
dystonia 22, juvenile-onset  
dystonia 28, childhood-onset  
dystonia 30  
dystonia 31  
dystonia 32  
dystonia 33  
dystonia 35, childhood-onset  
dystonia 37, early-onset with striatal lesions  
dystonia 5  
dystonia 9  
Dystonia with Cerebellar Atrophy 
Dystonia with Ringbinden 
dystonia, DOPA-responsive  
early-onset dystonia and/or spastic paraplegia  
Episodic Kinesigenic Dyskinesia +   
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 +   
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES  
Parkinson's disease 14  
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
paroxysmal nonkinesigenic dyskinesia 3  
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" "DO", https://www.ncbi.nlm.nih.gov/pubmed/19458970 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/3711913 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/3736869 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8644732 "DO" "DO"

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