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Preferred Name

ALPHA-L-IDURONIDASE
Synonyms

SCHEIE SYNDROME
ID

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

SCHEIE SYNDROME

IDUA PSEUDODEFICIENCY

HURLER SYNDROME

HURLER-SCHEIE SYNDROME

IDURONIDASE, ALPHA-L

IDUA
cui

C0086431

C4016443

C0026708

C1442485

C0086795
Gene Locus

4p16.3
Gene Symbol

IDA

IDUA
Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene with known sequence
notation

252800
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

ALPHA-L-IDURONIDASE
tui

T028

T033

T047
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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_122572 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/PR_000008895 Protein Ontology / 蛋白质本体 LOOM
http://purl.bioontology.org/ontology/LNC/MTHU007188 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C115255 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/ICD10CM/E76.01 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/E76.02 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/MESH/D008059 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D008059 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D008059 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10CM/E76.03 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/LNC/LP97942-4 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/LP14016-7 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM