Term Name: | mucopolysaccharidosis type IIIB |
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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 |
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. |
Ontology: | Human Disease [DOID:0111394] ( DOID:0111394 ) |