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loading...| Preferred Name |
Omenn Syndrome |
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| Synonyms |
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| Definitions |
An autosomal recessive combined immunodeficiency syndrome caused by mutations in the RAG-1 and RAG-2 genes. It is characterized by the presence of alopecia, erythroderma, desquamation, lymphadenopathy, and chronic diarrhea. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C61240 |
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| code |
C61240 |
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| Contributing_Source |
Cellosaurus |
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| definition |
An autosomal recessive combined immunodeficiency syndrome caused by mutations in the RAG-1 and RAG-2 genes. It is characterized by the presence of alopecia, erythroderma, desquamation, lymphadenopathy, and chronic diarrhea. |
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| in_subset | ||
| label |
Omenn Syndrome |
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| Legacy Concept Name |
Omenn_Syndrome |
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| Preferred_Name |
Omenn Syndrome |
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| prefixIRI |
NCIT:C61240 |
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| prefLabel |
Omenn Syndrome |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C1801959 |
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| subClassOf |
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