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

http://purl.bioontology.org/ontology/NDFRT/N0000000514

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