Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Jump to:
loading...
Preferred Name

HURLER-SCHEIE SYNDROME
Synonyms

MPS1-HS
ID

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

MPS1-HS

MUCOPOLYSACCHARIDOSIS TYPE IH/S
cui

C0086431
Gene Locus

4p16.3
Gene Symbol

IDA

IDUA
Has manifestation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Phenotype description, molecular basis known.
notation

607015
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HURLER-SCHEIE SYNDROME
Scope Statement

Treatment with enzyme replacement therapy [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]

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

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

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D008059 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/26745009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10056887 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/26745009 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10056887 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10056916 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D008059 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/D6-70116 SNMI CUI
http://purl.bioontology.org/ontology/ICD10CM/E76.02 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10056887 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10056916 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/XE11p RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10056916 MDRGER CUI
http://purl.obolibrary.org/obo/MONDO_0011759 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0011759 EFO LOOM
http://purl.obolibrary.org/obo/NCIT_C122782 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122782 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12383 HRDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10056916 MEDDRA LOOM
http://id.nlm.nih.gov/mesh/D008059 MDM LOOM
http://purl.bioontology.org/ontology/ICD10CM/E76.02 ICD10CM LOOM
http://purl.obolibrary.org/obo/MONDO_0011759 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0011759 DOVES LOOM
http://nanbyodata.jp/ontology/NANDO_1200096 NANDO LOOM
http://www.orpha.net/ORDO/Orphanet_93476 ORDO LOOM