loading...| Preferred Name |
Autoimmune Lymphoproliferative Syndrome |
|
| Synonyms |
Canale Smith Syndrome |
|
| Definitions |
Autoimmune lymphoproliferative syndrome due to mutations in CASPASE 8 gene. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D056735 |
|
| altLabel |
Canale Smith Syndrome Syndrome, Canale-Smith Caspase 8 Deficiencies Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant Autoimmune Lymphoproliferative Syndrome Type 2B Deficiencies, Caspase-8 Caspase-8 Deficiency Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant Lymphoproliferative Syndrome, Autoimmune Caspase 8 Deficiency Canale-Smith Syndrome Syndrome, Autoimmune Lymphoproliferative Autoimmune Lymphoproliferative Syndrome, Type IIb Deficiencies, Caspase 8 Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS2B) Deficiency, Caspase 8 Syndromes, Autoimmune Lymphoproliferative Lymphoproliferative Syndromes, Autoimmune Caspase-8 Deficiencies Syndromes, Canale-Smith Deficiency, Caspase-8 Canale-Smith Syndromes Autoimmune Lymphoproliferative Syndromes Syndrome, Canale Smith |
|
| 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 |
C1328840 C2717884 C1846545 |
|
| DC |
1 |
|
| definition |
Autoimmune lymphoproliferative syndrome due to mutations in CASPASE 8 gene. 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. |
|
| DX |
20100101 |
|
| FX |
D019014 D053181 D053450 D053455 |
|
| HN |
2010 |
|
| 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 |
|
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D019014 http://purl.bioontology.org/ontology/MESH/D053450 |
|
| Machine permutation |
2010 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C566615 http://purl.bioontology.org/ontology/MESH/C566614 http://purl.bioontology.org/ontology/MESH/C566613 |
|
| MDA |
20090706 |
|
| MMR |
20170717 |
|
| MN |
C20.111.288 C16.320.089 C20.683.515.124 C15.604.515.138 |
|
| notation |
D056735 |
|
| prefLabel |
Autoimmune Lymphoproliferative Syndrome |
|
| TERMUI |
T734564 T812547 T000903211 T734031 T812546 T735248 T734032 T746514 T734036 T734037 |
|
| TH |
OMIM (2013) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D001327 |