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Disease Ontology Browser
mucopolysaccharidosis X (DOID:0061128)
Alliance: disease page
Synonyms: MPS10; MSP type X; mucopolysaccharidosis due to ARSK deficiency
Alt IDs: OMIM:619698, ORDO:662216
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/18/2025
MGI 6.24
The Jackson Laboratory