Search Ontology:
Human Disease

mucopolysaccharidosis X

Term ID
DOID:0061128
Synonyms
  • MPS10
  • MSP type X
  • mucopolysaccharidosis due to ARSK deficiency
Definition
A mucopolysaccharidos characterized by childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ARSK gene, which encodes arylsulfatase K, on chromosome 5q15. https://pubmed.ncbi.nlm.nih.gov/34916232/
References
Ontology
Human Disease   ( DOID:0061128 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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