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Preferred Name

HURLER-SCHEIE SYNDROME
Synonyms

MUCOPOLYSACCHARIDOSIS TYPE IH/S
ID

http://purl.bioontology.org/ontology/OMIM/607015
altLabel

MUCOPOLYSACCHARIDOSIS TYPE IH/S

MPS1-HS
cui

C0086431
Gene Locus

4p16.3
Gene Symbol

IDA

IDUA
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU042813

http://purl.bioontology.org/ontology/OMIM/MTHU042819

http://purl.bioontology.org/ontology/OMIM/MTHU042817

http://purl.bioontology.org/ontology/OMIM/MTHU023176

http://purl.bioontology.org/ontology/OMIM/MTHU007185

http://purl.bioontology.org/ontology/OMIM/MTHU042812

http://purl.bioontology.org/ontology/OMIM/MTHU042810

http://purl.bioontology.org/ontology/OMIM/MTHU042815

http://purl.bioontology.org/ontology/OMIM/MTHU009220

http://purl.bioontology.org/ontology/OMIM/MTHU030601

http://purl.bioontology.org/ontology/OMIM/MTHU024258

http://purl.bioontology.org/ontology/OMIM/MTHU005751

http://purl.bioontology.org/ontology/OMIM/MTHU007985

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU042816

http://purl.bioontology.org/ontology/OMIM/MTHU002014

http://purl.bioontology.org/ontology/OMIM/MTHU020244

http://purl.bioontology.org/ontology/OMIM/MTHU002079

http://purl.bioontology.org/ontology/OMIM/MTHU002713

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU036369

http://purl.bioontology.org/ontology/OMIM/MTHU042814

http://purl.bioontology.org/ontology/OMIM/MTHU042818

http://purl.bioontology.org/ontology/OMIM/MTHU042811

http://purl.bioontology.org/ontology/OMIM/MTHU005109

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU001467

http://purl.bioontology.org/ontology/OMIM/MTHU030490
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

607015
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HURLER-SCHEIE SYNDROME
Scope Statement

Caused by mutation in the alpha-L-iduronidase gene (IDUA, 252800.0012) [MOLECULAR BASIS]

Onset of symptoms between ages 3-8 years of age [MISCELLANEOUS]

MPS1 types are distinguished clinically by age of onset and progression or by mutation(s) [MISCELLANEOUS]

Alpha-L-iduronidase activity is <1% for all forms of MPS1 [MISCELLANEOUS]

Treatment with enzyme replacement therapy [MISCELLANEOUS]
tui

T047
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