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Metadata
DOID DOID:12802
Name mucopolysaccharidosis I
Definition A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase.
http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I
Xrefs

CSP2005:1849-6334

GARD:10335

ICD10CM:E76.0

MESH:D008059

MTHICD9_2006:277.5

NCI:C85053

OMIM:607014

OMIM:607015

OMIM:607016

SNOMEDCT_US_2018_03_01:75610003

UMLS_CUI:C0023786

Subsets

NCIthesaurus

Synonyms

Hurler syndrome [EXACT]

Hurler-Scheie syndrome [EXACT]

iduronidase deficiency disease [EXACT]

Lipochondrodystrophy [EXACT]

MPS I - Hurler syndrome [EXACT]

Mucopolysaccharidosis, MPS-I [EXACT]

Mucopolysaccharidosis, type 1 [EXACT]

Relationships

is_a mucopolysaccharidosis

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