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Ontology Browser

Parent Terms Term With Siblings Child Terms
Dysmyelinating Leukodystrophy with Oligodontia  
Dysmyelination with Jaundice 
early infantile epileptic encephalopathy 39  
Fabry disease +   
Farber lipogranulomatosis  
gangliosidosis +   
Gaucher's disease +   
hypomyelinating leukodystrophy +   
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
Krabbe disease +   
An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses.
Leber hereditary optic neuropathy with demyelinating disease of CNS 
megalencephalic leukoencephalopathy with subcortical cysts +   
Megalencephaly with Dysmyelination 
metachromatic leukodystrophy +   
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
Niemann-Pick disease +   
Optic Atrophy with Demyelinating Disease of CNS 
retinal vasculopathy with cerebral leukodystrophy  
sea-blue histiocytosis  
Sulfatidosis +   

Exact Synonyms: Classic Globoid Cell Leukodystrophy ;   Diffuse Globoid Body Sclerosis ;   Early Onset Globoid Cell Leukodystrophy ;   GALC Deficiencies ;   GALC Deficiency ;   GCL ;   GLD ;   Galactocerebrosidase Deficiencies ;   Galactocerebrosidase Deficiency ;   Galactosylceramidase Deficiency Disease ;   Galactosylceramidase Deficiency Diseases ;   Galactosylceramide Lipidosis ;   Galactosylceramide beta Galactosidase Deficiency ;   Galactosylceramide beta Galactosidase Deficiency Disease ;   Galactosylceramide beta-Galactosidase Deficiencies ;   Galactosylceramide-beta-Galactosidase Deficiency Diseases ;   Galactosylcerebrosidase Deficiency ;   Galactosylsphingosine Lipidosis ;   Globoid Cell Leukodystrophies ;   Globoid Cell Leukodystrophy ;   Globoid Cell Leukoencephalopathies ;   Globoid Cell Leukoencephalopathy ;   Globoid Leukodystrophies ;   Globoid Leukodystrophy ;   Infantile Globoid Cell Leukodystrophy ;   Krabbe Leukodystrophy ;   Krabbe's Disease ;   Krabbe's Leukodystrophy ;   Krabbes Disease ;   Krabbes Leukodystrophy ;   Late Onset Globoid Cell Leukodystrophy ;   Psychosine Lipidosis ;   beta galactocerebrosidase deficiency
Primary IDs: MESH:D007965 ;   RDO:0004496
Alternate IDs: OMIA:000578 ;   OMIM:245200
Xrefs: GARD:6844 ;   ICD10CM:E75.23 ;   NCI:C133088 ;   NCI:C61254
Definition Sources: MESH:D007965

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