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 )

Relationships
is a type of: mucopolysaccharidosis