Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

mucopolysaccharidosis III (DOID:12801)
Annotations: Rat: (11) Mouse: (10) Human: (11) Chinchilla: (10) Bonobo: (10) Dog: (10) Squirrel: (10) Pig: (9)
Parent Terms Term With Siblings Child Terms
Mucopolysaccharidoses, Unclassified Types 
mucopolysaccharidosis I +   
mucopolysaccharidosis II  
mucopolysaccharidosis III +   
Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
mucopolysaccharidosis IV +   
mucopolysaccharidosis IX  
mucopolysaccharidosis VI  
Mucopolysaccharidosis VIII 
Sly syndrome  

Exact Synonyms: Heparan Sulfate Sulfatase Deficiency ;   Mucopolysaccharidosis 3 ;   Mucopolysaccharidosis, MPS-III ;   N Acetyl alpha D Glucosaminidase Deficiency ;   N-acetyl-alpha-D-glucosaminidase deficiencies ;   N-sulphoglucosamine sulphohydrolase deficiency ;   NAGLU Deficiencies ;   NAGLU Deficiency ;   Polydystrophic Oligophrenia ;   Polydystrophic Oligophrenias ;   San Filippo Syndrome ;   San Filippo's Syndrome ;   San Filippos Syndrome ;   Sanfilippo Syndrome ;   Sanfilippo syndromes ;   Sanfilippo's Syndrome ;   Sanfilippos Syndrome ;   acetyl CoA:alpha glucosaminide N-acetyltransferase deficiency ;   acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiencies ;   sulfamidase deficiencies ;   sulfamidase deficiency
Primary IDs: MESH:D009084
Alternate IDs: OMIA:001309 ;   OMIA:001342
Xrefs: NCI:C61262 ;   NCI:C84897 ;   NCI:C84898 ;   ORDO:581
Definition Sources: "DO", MESH:D009084

paths to the root


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