Search Ontology:
Human Disease

mucopolysaccharidosis type IIID

Term ID
DOID:0111402
Synonyms
  • GNS deficiency
  • MPS IIID
  • MPS3D
  • Mucopolysaccharidosis type 3D
  • N-acetylglucosamine-6-sulfatase deficiency
  • Sanfilippo syndrome D
  • Sanfilippo syndrome type D
Definition
A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. https://www.ncbi.nlm.nih.gov/pubmed/12573255
References
  • GARD:7074
  • ICD10CM:E76.22
  • MESH:D009084
  • MIM:252940
  • NCI:C84900
  • ORDO:79272
  • SNOMEDCT_US_2023_03_01:15892005
  • UMLS_CUI:C0086650
Ontology
Human Disease   ( DOID:0111402 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models