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Disease Ontology Browser
mucopolysaccharidosis type IIIA (DOID:0111395)
Alliance: disease page
Synonyms: heparan sulfamidase deficiency; MPS3A; MPSIIIA; mucopolysaccharidosis III-A; mucopolysaccharidosis type 3A; mucopolysaccharidosis type IIIA (Sanfilippo A); Sanfilippo syndrome type A
Alt IDs: OMIM:252900, ORDO:79269, UMLS_CUI:C0086647
Definition: A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in SGSH on chromosome 17q25.3.


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
02/18/2020
MGI 6.14
The Jackson Laboratory