OBO ID: DOID:0111395
Term Name: mucopolysaccharidosis type IIIA Search Ontology:
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 SGSH on chromosome 17q25.3. (2)
References:
Ontology: Human Disease   (DOID:0111395)
OTHER mucopolysaccharidosis type IIIA PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SGSH Mucopolysaccharidosis type IIIA (Sanfilippo A) 252900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None