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.