OBO ID: DOID:12802
Term Name: mucopolysaccharidosis I Search Ontology:
Synonyms:
  • Hurler syndrome
  • Hurler-Scheie syndrome
  • iduronidase deficiency disease
  • Lipochondrodystrophy
  • MPS I - Hurler syndrome
  • Mucopolysaccharidosis, MPS-I
  • Mucopolysaccharidosis, type 1
Definition: A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I
References:
  • GARD:10335
  • ICD10CM:E76.0
  • MESH:D008059
  • NCI:C85053
  • SNOMEDCT_US_2023_03_01:267453008
  • UMLS_CUI:C0023786
Ontology: Human Disease   ( DOID:12802 )
OTHER mucopolysaccharidosis I PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None