Preferred Name |
Omenn syndrome |
|
Synonyms |
combined immunodeficiency with hypereosinophilia |
|
Definitions |
A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0060010 |
|
database_cross_reference |
OMIM:603554 ICD10CM:D81.8 GARD:8198 |
|
definition |
A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. |
|
has exact synonym |
combined immunodeficiency with hypereosinophilia |
|
has symptom | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0060010 |
|
in_subset | ||
label |
Omenn syndrome |
|
notation |
DOID:0060010 |
|
prefLabel |
Omenn syndrome |
|
subClassOf |