OBO ID: DOID:0111390
Term Name: mucopolysaccharidosis Ih Search Ontology:
Synonyms:
  • dysostosis multiplex
  • Dysostosis multiplex syndrome
  • gargoylism
  • Hurler disease MPS type 1H
  • Hurler-Pfaundler syndrome
  • L-iduronidase deficiency, Hurler type
  • MPS1-H
  • Mucopolysaccharidosis type I severe form
Definition: A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3. (2)
References:
  • GARD:12559
  • ICD10CM:E76.01
  • MESH:D008059
  • NCI:C61261
  • OMIM:607014
  • ORDO:93473
  • SNOMEDCT_US_2022_03_01:65327002
  • UMLS_CUI:C0086795
Ontology: Human Disease   (DOID:0111390)
OTHER mucopolysaccharidosis Ih PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IDUA Mucopolysaccharidosis Ih 607014
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None