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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
alpha-mannosidosis +   
aspartylglucosaminuria  
beta-mannosidosis  
A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. (DO)
cystinosis +   
Danon disease  
galactosialidosis  
Glutamyl Ribose-5-Phosphate Storage Disease 
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
lipid storage disease +   
Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency 
Lysosomal Storage Diseases, Nervous System +   
Mannosidase Deficiency Diseases +   
mucopolysaccharidosis +   
pycnodysostosis  
Schindler disease +   
Vacuolar Myopathy  

Synonyms
Exact Synonyms: BETA-D-MANNOSIDOSIS ;   Lysosomal beta A Mannosidosis ;   Lysosomal beta-Mannosidase Deficiencies ;   beta Mannosidase Deficiency ;   beta-Mannosidoses ;   beta-mannosidase deficiencies ;   lysosomal beta-mannosidase deficiency
Primary IDs: MESH:D044905
Alternate IDs: MESH:C538599 ;   OMIM:248510
Xrefs: NCI:C84596
Definition Sources: http://en.wikipedia.org/wiki/Beta-mannosidosis "DO" "DO"

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