Search Ontology:
Human Disease

mucopolysaccharidosis type IIIA

Term ID
DOID:0111395
Synonyms
  • heparan sulfamidase deficiency
  • MPS3A
  • MPSIIIA
  • mucopolysaccharidosis III-A
  • mucopolysaccharidosis type 3A
  • mucopolysaccharidosis type IIIA (Sanfilippo A)
  • Sanfilippo syndrome type A
Definition
A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3. (2)
References
  • ICD10CM:E76.22
  • MESH:D009084
  • MIM:252900
  • NCI:C84897
  • ORDO:79269
  • SNOMEDCT_US_2023_03_01:254070003
  • UMLS_CUI:C0086647
Ontology
Human Disease   ( DOID:0111395 )
Relationships
is a type of
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Genes Involved
Zebrafish Models