About   Help   FAQ
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, ICD10CM:E76.22, MESH:D009084, NCI:C84897, 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Copyright, and Privacy Statement
Send questions and comments to User Support.
last database update
MGI 6.22
The Jackson Laboratory