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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/603554
http://purl.bioontology.org/ontology/OMIM/603554
|
|---|---|
| Preferred Name | OMENN SYNDROME |
| Synonyms |
SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA
RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA
RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA
|
|---|---|
| prefLabel | OMENN SYNDROME
|
| Gene Symbol |
DCLRE1C
SCIDA
ARTEMIS
|
| 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]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 10p
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 603554
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C2700553
C2931884
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |