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Metadata
ID DOID:0061128
Name mucopolysaccharidosis X
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/
Xrefs

MIM:619698

ORDO:662216

Synonyms

MPS10 [EXACT]

MSP type X [EXACT]

mucopolysaccharidosis due to ARSK deficiency [EXACT]

Parent Relationships

is_a mucopolysaccharidosis

Subclass Logical Relationships

existence starts during some Childhood onset

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