agammaglobulinemia 7, autosomal recessive

Go to external page http://purl.obolibrary.org/obo/MONDO_0014083


Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: agammaglobulinemia 7, autosomal recessive autosomal agammaglobulinemia caused by mutation in PIK3R1 PIK3R1 autosomal agammaglobulinemia

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

https://omim.org/entry/615214

http://linkedlifedata.com/resource/umls/id/C3554689

http://purl.obolibrary.org/obo/DOID_0081139

http://identifiers.org/medgen/767603

has related synonym

agammaglobulinemia, autosomal recessive, due to PIK3R1 defect

AGM7

id

MONDO:0014083