Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

ALPHA-L-IDURONIDASE
Synonyms

IDUA PSEUDODEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/252800
altLabel

IDUA PSEUDODEFICIENCY

IDURONIDASE, ALPHA-L

IDUA

SCHEIE SYNDROME

HURLER-SCHEIE SYNDROME

HURLER SYNDROME
cui

C4016443

C0086795

C0086431

C1442485

C0026708
Gene Locus

4p16.3
Gene Symbol

IDA

IDUA
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/252800.0007

http://purl.bioontology.org/ontology/OMIM/252800.0005

http://purl.bioontology.org/ontology/OMIM/252800.0003

http://purl.bioontology.org/ontology/OMIM/252800.0004

http://purl.bioontology.org/ontology/OMIM/252800.0009

http://purl.bioontology.org/ontology/OMIM/252800.0002

http://purl.bioontology.org/ontology/OMIM/252800.0008

http://purl.bioontology.org/ontology/OMIM/252800.0001

http://purl.bioontology.org/ontology/OMIM/252800.0006

http://purl.bioontology.org/ontology/OMIM/252800.0016

http://purl.bioontology.org/ontology/OMIM/252800.0014

http://purl.bioontology.org/ontology/OMIM/252800.0015

http://purl.bioontology.org/ontology/OMIM/252800.0018

http://purl.bioontology.org/ontology/OMIM/252800.0011

http://purl.bioontology.org/ontology/OMIM/252800.0010

http://purl.bioontology.org/ontology/OMIM/252800.0017

http://purl.bioontology.org/ontology/OMIM/252800.0012

http://purl.bioontology.org/ontology/OMIM/252800.0013

http://purl.bioontology.org/ontology/OMIM/252800.0019

http://purl.bioontology.org/ontology/OMIM/252800.0020
MIMTYPEMEANING

Gene with known sequence
notation

252800
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

ALPHA-L-IDURONIDASE
tui

T047

T033

T028
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Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10020470 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D008059 MESH CUI
http://purl.bioontology.org/ontology/LNC/LP97942-4 LOINC CUI
http://purl.bioontology.org/ontology/SNOMEDCT/73123008 SNOMEDCT 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/MDRGER/10020471 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10028048 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10028048 MDRGER 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/SNMI/D6-70110 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10020470 MDRGER 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/SNMI/D6-70112 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/254069004 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10020471 MEDDRA 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.bioontology.org/ontology/MDRFRE/10056888 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D008059 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D6-70114 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X40Vz RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10056888 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10056888 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10056919 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10056919 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10056891 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10056891 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10056919 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10056891 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/73123008 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D008059 MSHFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E76.03 ICD10CM CUI
http://purl.obolibrary.org/obo/NCIT_C115255 BERO LOOM
http://purl.bioontology.org/ontology/LNC/MTHU007188 LOINC LOOM
http://www.orpha.net/ORDO/Orphanet_122572 ORDO LOOM
http://purl.obolibrary.org/obo/PR_000008895 PR LOOM
http://purl.obolibrary.org/obo/PR_000008895 NIFSTD LOOM
http://purl.bioontology.org/ontology/RCD/X80Jr RCD LOOM
http://purl.bioontology.org/ontology/LNC/LP14016-7 LOINC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C115255 NCIT LOOM