Disease association ontology term - MONDO:0031520 - familial severe combined immunodeficiency
Term summary
ID
MONDO:0031520
Name
familial severe combined immunodeficiency
Ontology or CV name
Disease association
Parents
is_a
severe combined immunodeficiency
Annotation
Disease association
MONDO:0012650
-
Cernunnos-XLF deficiency
References:
PB_REF:0000006
Genes:
xlf1 (SPCC24B10.14c)
MONDO:0011338
-
Omenn syndrome
References:
PMID:18845326
Genes:
lig4 (SPCC1183.05c)
MONDO:0009973
-
reticular dysgenesis
References:
PB_REF:0000006
Genes:
adk1 (SPAC4G9.03)
MONDO:0007064
-
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
References:
PB_REF:0000006
Genes:
dea2 (SPBC1198.02)
