loading...| Preferred Name | Wiskott-Aldrich syndrome | |
| Synonyms |
Aldrich syndrome eczema thrombocytopenia immunodeficiency syndrome Imd 2 eczema-thrombocytopenia-immunodeficiency syndrome Wiskott-Aldrich syndrome 1 Wiskott-Aldrich syndrome Wiskott Aldrich syndrome Wiskott syndrome immunodeficiency 2 Wiskott-Aldrich syndrome, X-linked recessive WAS |
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| Definitions |
Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0010518 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0010518 |
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| database_cross_reference |
MEDGEN:21921 ICD9:279.12 NANDO:1200330 NANDO:2200704 Orphanet:906 UMLS:C0043194 icd11.foundation:168952525 OMIM:301000 MESH:D014923 MedDRA:10047992 ICD10CM:D82.0 SCTID:36070007 DOID:9169 GARD:7895 NCIT:C3448 |
|
| definition |
Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies. |
|
| has_exact_synonym |
eczema-thrombocytopenia-immunodeficiency syndrome Wiskott-Aldrich syndrome 1 Wiskott-Aldrich syndrome Wiskott Aldrich syndrome Wiskott syndrome immunodeficiency 2 Wiskott-Aldrich syndrome, X-linked recessive WAS |
|
| has_related_synonym |
Aldrich syndrome eczema thrombocytopenia immunodeficiency syndrome Imd 2 |
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| IAO_0000233 | ||
| id |
MONDO:0010518 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Wiskott-Aldrich syndrome |
|
| notation |
MONDO:0010518 |
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| preferred label |
Wiskott-Aldrich syndrome |
|
| prefLabel |
Wiskott-Aldrich syndrome |
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| see also |
https://rarediseases.info.nih.gov/diseases/7895/wiskott-aldrich-syndrome |
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| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_9169 http://purl.obolibrary.org/obo/NCIT_C3448 http://identifiers.org/mesh/D014923 http://purl.obolibrary.org/obo/Orphanet_906 http://linkedlifedata.com/resource/umls/id/C0043194 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/168952525 http://purl.bioontology.org/ontology/ICD10CM/D82.0 |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015131 http://purl.obolibrary.org/obo/MONDO_0000425 |
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| excluded_subClassOf |