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Preferred Name

Mucopolysaccharidosis, MPS-I-H
Synonyms

Dysostosis multiplex syndrome
ID

http://purl.bioontology.org/ontology/SNMI/D6-70112
altLabel

Dysostosis multiplex syndrome

Lipochondrodystrophy

L-iduronidase deficiency, Hurler type

Hurler-Pfaundler syndrome

Gargoylism

Hurler's syndrome
Associated with

http://purl.bioontology.org/ontology/SNMI/M-27000

http://purl.bioontology.org/ontology/SNMI/F-6A928
cui

C0086795
notation

D6-70112
prefLabel

Mucopolysaccharidosis, MPS-I-H
SIC

277.5
SMX

(M-27000) (F-6A928)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/SNMI/D6-70000
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10028048 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10020471 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10020470 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10020470 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D008059 MESH CUI
http://purl.bioontology.org/ontology/CSP/1849-6334 CRISP CUI
http://purl.bioontology.org/ontology/PDQ/CDR0000689763 PDQ CUI
http://purl.bioontology.org/ontology/MDRFRE/10028048 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10028048 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/MTHU007185 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/607014 OMIM CUI
http://purl.bioontology.org/ontology/MDRFRE/10020470 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/65327002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICPC2P/T80001 ICPC2P CUI
http://purl.bioontology.org/ontology/MDRFRE/10020471 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/X40Vy RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/254069004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D008059 MSHFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E76.01 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/65327002 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/254069004 SCTSPA CUI
http://purl.bioontology.org/ontology/OMIM/252800 OMIM CUI
http://purl.bioontology.org/ontology/MEDDRA/10020471 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/65327002 SNOMEDCT LOOM