Metadata | |
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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 | |
Synonyms |
MPS10 [EXACT] MSP type X [EXACT] mucopolysaccharidosis due to ARSK deficiency [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
existence starts during some Childhood onset |