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Ontology Browser

Term:
L-2-hydroxyglutaric aciduria (DOID:0050574)
Annotations: Rat: (4) Mouse: (4) Human: (6) Chinchilla: (4) Bonobo: (5) Dog: (4) Squirrel: (4) Pig: (4)
Parent Terms Term With Siblings Child Terms
Arima Syndrome 
Behrens Baumann Dust Syndrome 
Cerebellar Degeneration-Related Autoantigen 3 
Cerebellar Neoplasms +   
Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
Cerebelloparenchymal Disorder VI 
combined D-2- and L-2-hydroxyglutaric aciduria  
D-2-hydroxyglutaric aciduria +   
Dandy-Walker syndrome +   
Dykes Markes Harper Syndrome 
Dystonia with Cerebellar Atrophy 
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15  
Joubert syndrome +   
L-2-hydroxyglutaric aciduria  
An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). (DO)
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
Miller Fisher syndrome 
Paraneoplastic Cerebellar Degeneration 
pontocerebellar hypoplasia +   
Porencephaly Cerebellar Hypoplasia Malformations 
PORETTI-BOLTSHAUSER SYNDROME  
primary cerebellar degeneration +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Stevenson-Carey Syndrome 
Subacute Cerebellar Degeneration 

Synonyms
Exact Synonyms: L-2-hydroxyglutaric acidemia ;   L-2-hydroxyglutaricacidemia ;   L2HGA
Primary IDs: OMIM:236792
Alternate IDs: RDO:9004214
Xrefs: GARD:10472 ;   ORDO:79314
Definition Sources: http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria

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