National Drug File - Reference Terminology

Last uploaded: July 6, 2018
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Id http://purl.bioontology.org/ontology/NDFRT/N0000181216
http://purl.bioontology.org/ontology/NDFRT/N0000181216
Preferred Name

Autoimmune Lymphoproliferative Syndrome [Disease/Finding]
Synonyms
Canale Smith Syndrome
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant
Canale-Smith Syndrome
Autoimmune Lymphoproliferative Syndrome
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
Canale Smith Syndrome
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant
Canale-Smith Syndrome
Autoimmune Lymphoproliferative Syndrome
prefLabel
Autoimmune Lymphoproliferative Syndrome [Disease/Finding]
notation
N0000181216
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 UI
M0528916
subClassOf
Semantic type UMLS property
MeSH name
Autoimmune Lymphoproliferative Syndrome
NDFRT kind
DISEASE_KIND
type
tui
T047
NUI
N0000181216
cui
C1328840
MESH DUI
D056735
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