FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mucopolysaccharidosis X ID (Ontology) DOID:0061128 (Human Disease)
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.
Also Known As "MPS10" ; "MSP type X" ; "mucopolysaccharidosis due to ARSK deficiency"
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 Genes
 mucopolysaccharidosis X       5
 for disease ribbon | mucopolysaccharidosis X       5
 model of | mucopolysaccharidosis X       5
Spanning Tree (Parents/Children)
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  lysosomal storage disease
   |__mucopolysaccharidosis
       |__mucopolysaccharidosis X  5 rec.
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Synonyms
  • "MPS10" EXACT OMO:0003012
    "MSP type X" EXACT
    "mucopolysaccharidosis due to ARSK deficiency" EXACT
Secondary IDs
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MIM:619698
ORDO:662216