agammaglobulinemia 2, autosomal recessive

agammaglobulinemia 2, autosomal recessive

http://purl.obolibrary.org/obo/MONDO_0013287

Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: agammaglobulinemia 2, autosomal recessive lambda 5 deficiency autosomal agammaglobulinemia caused by mutation in IGLL1 AGM2 IGLL1 autosomal agammaglobulinemia agammaglobulinemia, autosomal recessive, due to IGLL1 defect

Tree view
Term mappings

Preferred root terms

All terms

This is just here as a test because I lose it

Term information

database cross reference

UMLS:C3150750 (OMIM:613500)
OMIM:613500 (MONDO:equivalentTo)
DOID:0060024 (MONDO:equivalentTo)
GARD:15672 (OMIM:613500)
DOID:0081135 (MONDO:equivalentTo)

Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0081135

http://linkedlifedata.com/resource/umls/id/C3150750

http://purl.obolibrary.org/obo/DOID_0060024

https://omim.org/entry/613500

MONDO:0013287

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013287

Term relations

Subclass of:

autosomal agammaglobulinemia