Familial Hemophagocytic Lymphohistiocytosis 5
Disease ID: disease_node_18243
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| Dbxref | MIM:613101 |
|---|---|
| Subclassof | DOID_0050120, DOID_0050177 |
| Data Source | DOID |
| Synonyms | FHL5, HLH5, HPLH5 |
| Doid Label | familial hemophagocytic lymphohistiocytosis 5 |
| Doid Description | A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. |
| Disease Node Id | disease_node_18243 |
| Doid Id | DOID_0110925 |
| Disease Has Basis In | SO_0000704 |
| Label | Familial Hemophagocytic Lymphohistiocytosis 5 |
- Outgoing r'ship
SUBCLASS_OFto/from Lymphohistiocytosis, Hemophagocytic(ID:disease_node_11475) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Monogenic Disease(ID:disease_node_13650) (Disease)