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Disease Ontology Browser
mucopolysaccharidosis Ih/s (DOID:0111389)
Alliance: disease page
Synonyms: MPS1H/S; MPSIH/S; Mucopolysaccharidosis type 1H/S
Alt IDs: OMIM:607015, ORDO:93476, UMLS_CUI:C0086431
Definition: A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3.


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
02/11/2020
MGI 6.14
The Jackson Laboratory