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Ontology Browser

Term:
Mucopolysaccharidosis X (DOID:9000814)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Mucopolysaccharidoses, Unclassified Types 
mucopolysaccharidosis I +   
mucopolysaccharidosis II  
mucopolysaccharidosis III +   
mucopolysaccharidosis IV +   
mucopolysaccharidosis IX  
mucopolysaccharidosis VI  
Mucopolysaccharidosis VIII 
Mucopolysaccharidosis X  
An autosomal recessive childhood-onset disorder associated with disproportionate short-trunk short stature, and skeletal, cardiac and ophthalmologic abnormalities. Caused by homozygous or compound heterozygous mutation in the ARSK gene, which encodes arylsulfatase K, on chromosome 5q15.
Mucopolysaccharidosis-Plus Syndrome  
Sly syndrome  

Synonyms
Exact Synonyms: ARSK deficiency ;   MPS10 ;   arlysulfatase K deficiency ;   mucopolysaccharidosis type X
Primary IDs: OMIM:619698
Definition Sources: OMIM:619698

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