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Ontology Browser

Term:
Lysosomal Storage Diseases, Nervous System (DOID:9008012)
Annotations: Rat: (63) Mouse: (63) Human: (66) Chinchilla: (60) Bonobo: (60) Dog: (62) Squirrel: (61) Pig: (64)
Parent Terms Term With Siblings Child Terms
2-hydroxyglutaric aciduria +   
adrenoleukodystrophy +   
Asparagine Synthetase Deficiency  
aspartylglucosaminuria  
beta-mannosidosis  
branched-chain keto acid dehydrogenase kinase deficiency  
creatine transporter deficiency  
CST3-related cerebral amyloid angiopathy +   
cystinosis +   
Danon disease  
encephalopathy due to defective mitochondrial and peroxisomal fission 1  
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2  
Encephalopathy, Spastic Tetraparesis, and Hypogonadism 
galactosemia +   
galactosialidosis  
Glutamyl Ribose-5-Phosphate Storage Disease 
glycine encephalopathy +   
Hartnup disease  
Hereditary Central Nervous System Demyelinating Diseases +   
homocarnosinosis  
homocystinuria +   
hyperlysinemia +   
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
Leigh disease +   
Lesch-Nyhan syndrome +   
lipid storage disease +   
Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency 
Lysosomal Storage Diseases, Nervous System +   
A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.
Mannosidase Deficiency Diseases +   
maple syrup urine disease +   
MELAS syndrome +   
Menkes disease +   
MERRF Syndrome +   
mevalonic aciduria  
Microphthalmia and Mental Deficiency 
mucopolysaccharidosis +   
oculocerebrorenal syndrome +   
phenylketonuria +   
pycnodysostosis  
pyruvate carboxylase deficiency disease +   
pyruvate decarboxylase deficiency +   
Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression  
Refsum disease +   
Schindler Disease, Type I  
Silengo Lerone Pelizza Syndrome 
Tricarboxylic Acid Cycle, Defect of 
tyrosinemia +   
urea cycle disorder +   
Vacuolar Myopathy  
Wilson disease +   
Zellweger syndrome +   
 sialuria +   

Synonyms
Exact Synonyms: Nervous System Lysosomal Enzyme Disorders
Primary IDs: MESH:D020140 ;   RDO:0005638
Definition Sources: MESH:D020140

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