About   Help   FAQ
Disease Ontology Browser
mucopolysaccharidosis type IIIB (DOID:0111394)
Alliance: disease page
Synonyms: MPS3B; MPSIIIB; Mucopoly-saccharidosis type 3B; Mucopolysaccharidosis type 3B; mucopolysaccharidosis type IIIB (Sanfilippo B); N-acetyl-alpha-glucosaminidase deficiency; NAGLU deficiency; Sanfilippo syndrome type B
Alt IDs: OMIM:252920, ICD10CM:E76.22, MESH:D009084, NCI:C84898, ORDO:79270, UMLS_CUI:C0086648
Definition: A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.


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
01/31/2023
MGI 6.22
The Jackson Laboratory