Term Name: | mucopolysaccharidosis X |
---|---|
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. |
Ontology: | Human Disease [DOID:0061128] ( DOID:0061128 ) |