OBO ID: DOID:0111402
Term Name: mucopolysaccharidosis type IIID Search Ontology:
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
  • NCI:C84900
  • OMIM:252940
  • ORDO:79272
  • SNOMEDCT_US_2023_03_01:15892005
  • UMLS_CUI:C0086650
Ontology: Human Disease   ( DOID:0111402 )
Relationships
is a type of:
OTHER mucopolysaccharidosis type IIID PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GNS Mucopolysaccharidosis type IIID 252940
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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