Omenn Syndrome
Disease ID: disease_node_13329
Connections displayed (default: 10).
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| Dbxref | GARD:8198, ICD10CM:D81.8, MIM:603554 |
|---|---|
| Subclassof | DOID_627 |
| Data Source | DOID |
| Synonyms | combined immunodeficiency with hypereosinophilia |
| Doid Label | Omenn syndrome |
| Doid Description | 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 Symptom | SYMP_0000570, SYMP_0000047 |
| Disease Node Id | disease_node_13329 |
| Doid Id | DOID_0060010 |
| Label | Omenn Syndrome |
- Outgoing r'ship
HAS_SYMPTOMto/from Dysentery(ID:disease_node_2637;disease_node_2638) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Hepatosplenomegaly(ID:disease_node_20956) (Disease)