CASPASE 8 DEFICIENCY
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB
CEDS
ALPS2B
http://purl.bioontology.org/ontology/OMIM/607271
C1846545
2q33
MCH5
CASP8
http://purl.bioontology.org/ontology/OMIM/MTHU001744
http://purl.bioontology.org/ontology/OMIM/MTHU003535
http://purl.bioontology.org/ontology/OMIM/MTHU003527
http://purl.bioontology.org/ontology/OMIM/MTHU003526
http://purl.bioontology.org/ontology/OMIM/MTHU003532
http://purl.bioontology.org/ontology/OMIM/MTHU003530
http://purl.bioontology.org/ontology/OMIM/MTHU003533
http://purl.bioontology.org/ontology/OMIM/MTHU003536
http://purl.bioontology.org/ontology/OMIM/MTHU002638
http://purl.bioontology.org/ontology/OMIM/MTHU003529
http://purl.bioontology.org/ontology/OMIM/MTHU003528
http://purl.bioontology.org/ontology/OMIM/MTHU003537
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU002630
http://purl.bioontology.org/ontology/OMIM/MTHU003531
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU003534
Phenotype description, molecular basis known.
607271
3
pound
Caused by mutation in the caspase 8 gene (CASP8, 601763.0001) [MOLECULAR BASIS]
T047