Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

Wiskott-Aldrich syndrome

Synonyms

Wiskott syndrome

Definitions

A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia). OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_9169

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

ICD10CM:D82.0

NCI:C3448

MESH:D014923

UMLS_CUI:C0043194

OMIM:301000

ICD9CM:279.12

SNOMEDCT_US_2022_09_01:36070007

definition

A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia).

has exact synonym

Wiskott syndrome

has material basis in

http://purl.obolibrary.org/obo/GENO_0000149

has_obo_namespace

disease_ontology

id

DOID:9169

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

Wiskott-Aldrich syndrome

notation

DOID:9169

prefLabel

Wiskott-Aldrich syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_225

http://purl.obolibrary.org/obo/DOID_0080012

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http://purl.bioontology.org/ontology/MESH/D014923 Medical Subject Headings LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3448 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/OMIM/301000 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/ICD10/D82.0 International Classification of Diseases, Version 10 LOOM
http://purl.bioontology.org/ontology/ICD10CM/D82.0 International Classification of Diseases, Version 10 - Clinical Modification LOOM