OBO ID: DOID:0060010
Term Name: Omenn syndrome Search Ontology:
Synonyms:
  • combined immunodeficiency with hypereosinophilia
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. (3)
References:
Ontology: Human Disease   (DOID:0060010)
Relationships
is a type of:
OTHER Omenn syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DCLRE1C Omenn syndrome 603554
RAG1 Omenn syndrome 603554
RAG2 Omenn syndrome 603554
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None