Preferred Name |
Autoimmune Lymphoproliferative Syndrome [Disease/Finding] |
|
Synonyms |
Canale Smith Syndrome |
|
ID |
http://purl.bioontology.org/ontology/NDFRT/N0000181216 |
|
altLabel |
Canale Smith Syndrome Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant Canale-Smith Syndrome Autoimmune Lymphoproliferative Syndrome |
|
cui |
C1328840 |
|
MESH DEFINITION |
Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY. |
|
MESH DUI |
D056735 |
|
MeSH name |
Autoimmune Lymphoproliferative Syndrome |
|
MESH UI |
M0528916 |
|
NDFRT kind |
DISEASE_KIND |
|
notation |
N0000181216 |
|
NUI |
N0000181216 |
|
prefLabel |
Autoimmune Lymphoproliferative Syndrome [Disease/Finding] |
|
tui |
T047 |
|
subClassOf |
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