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Ontology Browser

Term:
Segawa Syndrome, Autosomal Recessive (DOID:9004035)
Annotations: Rat: (4) Mouse: (3) Human: (4) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
dystonia +     
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  
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: Autosomal Recessive Infantile Parkinsonism ;   Dopa-Responsive Dystonia, Autosomal Recessive ;   Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive ;   Th-Deficient Drd ;   Tyrosine Hydroxylase Deficiency
Primary IDs: MESH:C537537
Alternate IDs: OMIM:605407 ;   RDO:0003396
Xrefs: NCI:C157158

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