mucopolysaccharidosis type IIIB

Term ID

DOID:0111394

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. (2)

References

• GARD:7072
• ICD10CM:E76.22
• MESH:D009084
• NCI:C84898
• OMIM:252920
• ORDO:79270
• SNOMEDCT_US_2023_03_01:254071004
• UMLS_CUI:C0086648

Ontology

Human Disease   ( DOID:0111394 )