GGDonto/Entry

GGDonto: Genetic Glyco-Diseases Ontology

CON00029 : 'Hurler syndrome' (Integration tree) (Degradation tree)

Common disease names

Gargoylism, Hurler syndrome
MPS1-H
Mucopolysaccharidosis type IH
Pfaundler-Hurler syndrome

Full list of disease names

Preferred Term	HURLER SYNDROME
Synonyms (from OMIM and MeSH)	Dysostosis multiplex syndrome Gargoylism, Hurler syndrome Hurler's syndrome MPS1-H MUCOPOLYSACCHARIDOSIS TYPE IH Mucopolysaccharidosis type 1H Pfaundler-Hurler syndrome

UMLS CUI

C0086795

UMLS SAB

MeSH

UMLS CODE

D008059

OMIM DATA

Gene	IDUA
Gene Number	252800
Phenotype Number	607014

References

Concept

Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses.
Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.

Relations

Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R (2011) Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34(6):1183-1197.

GDGDB

(82)