Preferred Name | Wiskott-Aldrich Syndrome | |
Synonyms |
Wiskott Syndrome Immunodeficiency 2s Eczema-Thrombocytopenia-Immunodeficiency Syndrome Eczema-Thrombocytopenia-Immunodeficiency Syndromes Imd2 Wiskott Syndromes Wiskott Aldrich Syndrome Immunodeficiency 2 Eczema Thrombocytopenia Immunodeficiency Syndrome Aldrich 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 |
Wiskott Syndrome Immunodeficiency 2s Eczema-Thrombocytopenia-Immunodeficiency Syndrome Eczema-Thrombocytopenia-Immunodeficiency Syndromes Imd2 Wiskott Syndromes Wiskott Aldrich Syndrome Immunodeficiency 2 Eczema Thrombocytopenia Immunodeficiency Syndrome 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/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
Machine permutation |
85; was ALDRICH SYNDROME 1963-84 |
|
Mapped from | ||
MDA |
19990101 |
|
MMR |
20230226 |
|
MN |
C15.378.463.960 C16.320.099.970 C20.673.795.875 C15.378.100.100.970 C20.673.627.900 C15.378.243.750.605.900 C16.320.798.875 C16.320.322.937 C15.378.553.546.605.900 |
|
notation |
D014923 |
|
OL |
use WISKOTT-ALDRICH SYNDROME to search ALDRICH SYNDROME 1966-84 |
|
prefLabel |
Wiskott-Aldrich Syndrome |
|
TERMUI |
T782954 T043593 T842698 T842697 T842699 T043594 |
|
TH |
OMIM (2013) NLM (1966) NLM (2012) UNK (19XX) GHR (2014) ORD (2010) |
|
tui |
T047 |
|
subClassOf |
http://purl.bioontology.org/ontology/MESH/D040181 http://purl.bioontology.org/ontology/MESH/D008231 http://purl.bioontology.org/ontology/MESH/D025861 |