Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

RECOMBINATION-ACTIVATING GENE 2

Synonyms

COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS

ID

http://purl.bioontology.org/ontology/OMIM/179616

altLabel

COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS

RAG2

OMENN SYNDROME

SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE

cui

C1867362

C2673536

C1419248

C2700553

Gene Locus

11p13

Gene Symbol

RAG2

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/179616.0010

http://purl.bioontology.org/ontology/OMIM/179616.0008

http://purl.bioontology.org/ontology/OMIM/179616.0003

http://purl.bioontology.org/ontology/OMIM/179616.0004

http://purl.bioontology.org/ontology/OMIM/179616.0009

http://purl.bioontology.org/ontology/OMIM/179616.0002

http://purl.bioontology.org/ontology/OMIM/179616.0007

http://purl.bioontology.org/ontology/OMIM/179616.0001

http://purl.bioontology.org/ontology/OMIM/179616.0005

http://purl.bioontology.org/ontology/OMIM/179616.0006

MIMTYPEMEANING

Gene with known sequence

notation

179616

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

RECOMBINATION-ACTIVATING GENE 2

tui

T047

T033

T028

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