Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

RECOMBINATION-ACTIVATING GENE 1

Synonyms

COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS

ID

http://purl.bioontology.org/ontology/OMIM/179615

altLabel

COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS

RECOMBINATION ACTIVATING GENE 1 POLYMORPHISM

ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY

OMENN SYNDROME

SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE

RAG1

cui

C1867362

C2673536

C2700553

C1835931

C0085218

C4016359

Gene Locus

11p13

Gene Symbol

RAG1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/179615.0025

http://purl.bioontology.org/ontology/OMIM/179615.0024

http://purl.bioontology.org/ontology/OMIM/179615.0022

http://purl.bioontology.org/ontology/OMIM/179615.0020

http://purl.bioontology.org/ontology/OMIM/179615.0021

http://purl.bioontology.org/ontology/OMIM/179615.0023

http://purl.bioontology.org/ontology/OMIM/179615.0005

http://purl.bioontology.org/ontology/OMIM/179615.0006

http://purl.bioontology.org/ontology/OMIM/179615.0009

http://purl.bioontology.org/ontology/OMIM/179615.0007

http://purl.bioontology.org/ontology/OMIM/179615.0004

http://purl.bioontology.org/ontology/OMIM/179615.0003

http://purl.bioontology.org/ontology/OMIM/179615.0002

http://purl.bioontology.org/ontology/OMIM/179615.0001

http://purl.bioontology.org/ontology/OMIM/179615.0008

http://purl.bioontology.org/ontology/OMIM/179615.0014

http://purl.bioontology.org/ontology/OMIM/179615.0019

http://purl.bioontology.org/ontology/OMIM/179615.0011

http://purl.bioontology.org/ontology/OMIM/179615.0015

http://purl.bioontology.org/ontology/OMIM/179615.0012

http://purl.bioontology.org/ontology/OMIM/179615.0013

http://purl.bioontology.org/ontology/OMIM/179615.0010

http://purl.bioontology.org/ontology/OMIM/179615.0017

http://purl.bioontology.org/ontology/OMIM/179615.0018

http://purl.bioontology.org/ontology/OMIM/179615.0016

MIMTYPEMEANING

Gene with known sequence

notation

179615

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

RECOMBINATION-ACTIVATING GENE 1

tui

T047

T033

T028

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