mucopolysaccharidosis I

Term ID

DOID:12802

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 )