OBO ID: DOID:0111389
Term Name: mucopolysaccharidosis Ih/s Search Ontology:
Synonyms:
  • MPS1H/S
  • MPSIH/S
  • Mucopolysaccharidosis type 1H/S
Definition: A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in IDUA on chromosome 4p16.3. (3)
References:
  • GARD:12560
  • ICD10CM:E76.02
  • MESH:D008059
  • NCI:C122782
  • OMIM:607015
  • ORDO:93476
  • SNOMEDCT_US_2022_03_01:26745009
  • UMLS_CUI:C0086431
Ontology: Human Disease   (DOID:0111389)
OTHER mucopolysaccharidosis Ih/s PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IDUA Mucopolysaccharidosis Ih/s 607015
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None