Preferred Name |
Omenn Syndrome |
|
Synonyms |
Omenn Syndrome |
|
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. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61240 |
|
code |
C61240 |
|
Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 |
|
Contributing_Source |
Cellosaurus |
|
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. |
|
FULL_SYN |
Omenn Syndrome |
|
label |
Omenn Syndrome |
|
Legacy Concept Name |
Omenn_Syndrome |
|
Preferred_Name |
Omenn Syndrome |
|
prefixIRI |
Thesaurus:C61240 |
|
Related_To_Genetic_Biomarker | ||
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C1801959 |
|
subClassOf |
Create mapping