Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

OMENN SYNDROME
Synonyms

SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA
ID

http://purl.bioontology.org/ontology/OMIM/603554
altLabel

SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA

RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA
cui

C2700553

C2931884
Gene Locus

10p
Gene Symbol

DCLRE1C

SCIDA

ARTEMIS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036686

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU005061

http://purl.bioontology.org/ontology/OMIM/MTHU042622

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU000226

http://purl.bioontology.org/ontology/OMIM/MTHU001376

http://purl.bioontology.org/ontology/OMIM/MTHU005053

http://purl.bioontology.org/ontology/OMIM/MTHU002638

http://purl.bioontology.org/ontology/OMIM/MTHU005060

http://purl.bioontology.org/ontology/OMIM/MTHU005051

http://purl.bioontology.org/ontology/OMIM/MTHU005055

http://purl.bioontology.org/ontology/OMIM/MTHU005052

http://purl.bioontology.org/ontology/OMIM/MTHU005056

http://purl.bioontology.org/ontology/OMIM/MTHU005050

http://purl.bioontology.org/ontology/OMIM/MTHU005054

http://purl.bioontology.org/ontology/OMIM/MTHU005057

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU042621

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU005058

http://purl.bioontology.org/ontology/OMIM/MTHU005063

http://purl.bioontology.org/ontology/OMIM/MTHU002630

http://purl.bioontology.org/ontology/OMIM/MTHU005059

http://purl.bioontology.org/ontology/OMIM/MTHU004968

http://purl.bioontology.org/ontology/OMIM/MTHU002606
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

603554
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

OMENN SYNDROME
Scope Statement

Caused by mutation in the recombinase activating gene 2 (RAG2, 179616.0003) [MOLECULAR BASIS]

Caused by mutation in the recombinase activating gene 1 (RAG1, 179615.0005) [MOLECULAR BASIS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/722067005 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/722067005 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10069097 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D016511 MESH CUI
http://purl.bioontology.org/ontology/RCD/X20HM RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/307650006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D016511 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/722067005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10069097 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10069097 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/C538564 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/722067005 SNOMEDCT CUI
http://purl.obolibrary.org/obo/MONDO_0011338 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0011338 EFO LOOM
http://purl.obolibrary.org/obo/NCIT_C61240 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61240 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_10452 HRDO LOOM
http://www.gamuts.net/entity#Omenn_syndrome GAMUTS LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0060010 NATPRO LOOM
http://id.nlm.nih.gov/mesh/D016511 MDM LOOM
http://www.orpha.net/ORDO/Orphanet_39041 ORDO LOOM
http://purl.obolibrary.org/obo/MONDO_0011338 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0011338 DOVES LOOM
http://purl.obolibrary.org/obo/OMIM_603554 CCO LOOM
http://nanbyodata.jp/ontology/NANDO_2200697 NANDO LOOM
http://purl.obolibrary.org/obo/DOID_0060010 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060010 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0060010 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060010 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060010 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0060010 FNS-H LOOM
http://identifiers.org/omim/603554 REXO LOOM
http://identifiers.org/omim/603554 GEXO LOOM
http://identifiers.org/omim/603554 RETO LOOM
http://nanbyodata.jp/ontology/NANDO_1200324 NANDO LOOM
http://purl.jp/bio/4/id/201206047433831037 IOBC LOOM
http://purl.bioontology.org/ontology/MEDDRA/10069097 MEDDRA LOOM
http://purl.obolibrary.org/obo/DERMO_0000729 DERMO LOOM