OBO ID: DOID:0111394
Term Name: mucopolysaccharidosis type IIIB Search Ontology:
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 )
Relationships
is a type of:
OTHER mucopolysaccharidosis type IIIB PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo B) 252920
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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