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Preferred Name

WISKOTT-ALDRICH SYNDROME
Synonyms

WAS1
ID

http://purl.bioontology.org/ontology/OMIM/301000
altLabel

WAS1

WISKOTT-ALDRICH SYNDROME 1

ALDRICH SYNDROME

ECZEMA-THROMBOCYTOPENIA-IMMUNODEFICIENCY SYNDROME

WAS

IMD2

IMMUNODEFICIENCY 2
cui

C0043194
Gene Locus

Xp11.23-p11.22
Gene Symbol

THC1

IMD2

WAS

SCNX
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU006265

http://purl.bioontology.org/ontology/OMIM/MTHU001680

http://purl.bioontology.org/ontology/OMIM/MTHU006279

http://purl.bioontology.org/ontology/OMIM/MTHU006271

http://purl.bioontology.org/ontology/OMIM/MTHU037166

http://purl.bioontology.org/ontology/OMIM/MTHU036919

http://purl.bioontology.org/ontology/OMIM/MTHU005462

http://purl.bioontology.org/ontology/OMIM/MTHU008133

http://purl.bioontology.org/ontology/OMIM/MTHU036809

http://purl.bioontology.org/ontology/OMIM/MTHU002638

http://purl.bioontology.org/ontology/OMIM/MTHU003139

http://purl.bioontology.org/ontology/OMIM/MTHU006262

http://purl.bioontology.org/ontology/OMIM/MTHU005994

http://purl.bioontology.org/ontology/OMIM/MTHU036995

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU006272

http://purl.bioontology.org/ontology/OMIM/MTHU006278

http://purl.bioontology.org/ontology/OMIM/MTHU006260

http://purl.bioontology.org/ontology/OMIM/MTHU006270

http://purl.bioontology.org/ontology/OMIM/MTHU006264

http://purl.bioontology.org/ontology/OMIM/MTHU036458

http://purl.bioontology.org/ontology/OMIM/MTHU000226

http://purl.bioontology.org/ontology/OMIM/MTHU006280

http://purl.bioontology.org/ontology/OMIM/MTHU006276

http://purl.bioontology.org/ontology/OMIM/MTHU037167

http://purl.bioontology.org/ontology/OMIM/MTHU038225

http://purl.bioontology.org/ontology/OMIM/MTHU002611

http://purl.bioontology.org/ontology/OMIM/MTHU003535

http://purl.bioontology.org/ontology/OMIM/MTHU008132

http://purl.bioontology.org/ontology/OMIM/MTHU006277

http://purl.bioontology.org/ontology/OMIM/MTHU006269

http://purl.bioontology.org/ontology/OMIM/MTHU006263

http://purl.bioontology.org/ontology/OMIM/MTHU006261
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

301000
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

WISKOTT-ALDRICH SYNDROME
Scope Statement

Caused by mutation in the WASP actin nucleation promoting factor gene (WAS, 300392.0001) [MOLECULAR BASIS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_9169 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_9169 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D014923 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D014923 Medical Subject Headings / 医学主题词表 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3448 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/ICD10/D82.0 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/ICD10/D82.0 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://purl.obolibrary.org/obo/MONDO_0010518 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0010518 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/ICD10CM/D82.0 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/D82.0 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 LOOM
http://www.orpha.net/ORDO/Orphanet_906 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bmicc.cn/ontology/ICD10CN/D82.0 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI