mucopolysaccharidosis Ih

Term ID

DOID:0111390

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 the IDUA gene on chromosome 4p16.3. (2)

References

• GARD:12559
• ICD10CM:E76.01
• MESH:D008059
• MIM:607014
• NCI:C61261
• ORDO:93473
• SNOMEDCT_US_2023_03_01:65327002
• UMLS_CUI:C0086795

Ontology

Human Disease   ( DOID:0111390 )