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Last uploaded: November 5, 2019

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Preferred Name	Wiskott-Aldrich Syndrome
Synonyms	Eczema-Thrombocytopenia-Immunodeficiency Syndrome
Definitions	A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
ID	http://purl.bioontology.org/ontology/MESH/D014923
altLabel	Eczema-Thrombocytopenia-Immunodeficiency Syndrome Syndrome, Wiskott-Aldrich Eczema Thrombocytopenia Immunodeficiency Syndrome Eczema-Thrombocytopenia-Immunodeficiency Syndromes Imd2 Syndrome, Eczema-Thrombocytopenia-Immunodeficiency Wiskott Syndrome Immunodeficiency 2 Syndrome, Aldrich Aldrich Syndrome Syndromes, Eczema-Thrombocytopenia-Immunodeficiency Wiskott Aldrich Syndrome
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0043194
DC	1
definition	A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
DX	19850101
HN	85; was ALDRICH SYNDROME 1963-84
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000469
Inverse of SIB	http://purl.bioontology.org/ontology/MESH/D000347 http://purl.bioontology.org/ontology/MESH/D056889 http://purl.bioontology.org/ontology/MESH/D005171 http://purl.bioontology.org/ontology/MESH/D014813 http://purl.bioontology.org/ontology/MESH/D020389 http://purl.bioontology.org/ontology/MESH/D020141 http://purl.bioontology.org/ontology/MESH/D018344 http://purl.bioontology.org/ontology/MESH/D005489 http://purl.bioontology.org/ontology/MESH/D004211 http://purl.bioontology.org/ontology/MESH/D016114 http://purl.bioontology.org/ontology/MESH/D020151 http://purl.bioontology.org/ontology/MESH/D020016 http://purl.bioontology.org/ontology/MESH/D013915 http://purl.bioontology.org/ontology/MESH/D014842 http://purl.bioontology.org/ontology/MESH/D005173 http://purl.bioontology.org/ontology/MESH/D005166 http://purl.bioontology.org/ontology/MESH/D038901 http://purl.bioontology.org/ontology/MESH/D014884 http://purl.bioontology.org/ontology/MESH/D020371 http://purl.bioontology.org/ontology/MESH/D009800 http://purl.bioontology.org/ontology/MESH/D053307 http://purl.bioontology.org/ontology/MESH/D015794 http://purl.bioontology.org/ontology/MESH/D020388 http://purl.bioontology.org/ontology/MESH/D005177 http://purl.bioontology.org/ontology/MESH/D005168 http://purl.bioontology.org/ontology/MESH/D057973 http://purl.bioontology.org/ontology/MESH/D000795 http://purl.bioontology.org/ontology/MESH/D013920 http://purl.bioontology.org/ontology/MESH/D058540 http://purl.bioontology.org/ontology/MESH/D001606 http://purl.bioontology.org/ontology/MESH/D007020 http://purl.bioontology.org/ontology/MESH/D056830 http://purl.bioontology.org/ontology/MESH/D020163 http://purl.bioontology.org/ontology/MESH/D055652 http://purl.bioontology.org/ontology/MESH/D006105 http://purl.bioontology.org/ontology/MESH/D022861 http://purl.bioontology.org/ontology/MESH/D005175 http://purl.bioontology.org/ontology/MESH/D019871 http://purl.bioontology.org/ontology/MESH/D053632 http://purl.bioontology.org/ontology/MESH/D006015 http://purl.bioontology.org/ontology/MESH/D055534 http://purl.bioontology.org/ontology/MESH/D016553 http://purl.bioontology.org/ontology/MESH/D020152 http://purl.bioontology.org/ontology/MESH/D006467 http://purl.bioontology.org/ontology/MESH/D052120 http://purl.bioontology.org/ontology/MESH/D002836 http://purl.bioontology.org/ontology/MESH/D013734 http://purl.bioontology.org/ontology/MESH/D010981 http://purl.bioontology.org/ontology/MESH/D053358
Machine permutation	85; was ALDRICH SYNDROME 1963-84
Mapped from	http://purl.bioontology.org/ontology/MESH/C563431
MDA	19990101
MMR	20150623
MN	C20.673.627.900 C15.378.553.546.605.900 C16.320.322.937 C15.378.100.100.970 C15.378.463.960 C16.320.099.970
notation	D014923
OL	use WISKOTT-ALDRICH SYNDROME to search ALDRICH SYNDROME 1966-84
prefLabel	Wiskott-Aldrich Syndrome
TERMUI	T043594 T782954 T842698 T842699 T842697 T043593
TH	UNK (19XX) NLM (1966) NLM (2012) ORD (2010) OMIM (2013) GHR (2014)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D006474 http://purl.bioontology.org/ontology/MESH/D025861 http://purl.bioontology.org/ontology/MESH/D040181 http://purl.bioontology.org/ontology/MESH/D008231

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_9169	Human Disease Ontology 123	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	CUI
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	CUI
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	CUI
http://purl.bioontology.org/ontology/ICD10CM/D82.0	International Classification of Diseases, Version 10 - Clinical Modification	LOOM
http://purl.bmicc.cn/ontology/ICD10CN/D82.0	International Classification of Diseases, 10th Edition, China	CUI
http://purl.bioontology.org/ontology/OMIM/300392	Online Mendelian Inheritance in Man	CUI