Developmental And Epileptic Encephalopathy 9
Disease ID: disease_node_16273
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| Dbxref | GARD:10806, MIM:300088, ORDO:101039 |
|---|---|
| Subclassof | DOID_0080009, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE9, EFMR, EIEE9, Juberg Hellman syndrome, early infantile epileptic encephalopathy 9, early infantile female-limited epilecptic encephalopathy, female restricted epilepsy with mental retardation |
| Doid Label | developmental and epileptic encephalopathy 9 |
| Doid Description | A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_16273 |
| Doid Id | DOID_0060848 |
| Label | Developmental And Epileptic Encephalopathy 9 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Domit Disease(ID:disease_node_13587) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease)