Search Ontology:
Human Disease

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
  • MIM:252920
  • NCI:C84898
  • ORDO:79270
  • SNOMEDCT_US_2023_03_01:254071004
  • UMLS_CUI:C0086648
Ontology
Human Disease   ( DOID:0111394 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models