Developmental And Epileptic Encephalopathy 36
Disease ID: disease_node_16196
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| Dbxref | GARD:12401, MIM:300884, ORDO:324422 |
|---|---|
| Subclassof | DOID_0080009, DOID_0112202 |
| Data Source | DOID |
| Synonyms | congenital disorder of glycosylation, type Is, early infantile epileptic encephalopathy 36 |
| Doid Label | developmental and epileptic encephalopathy 36 |
| Doid Description | A developmental and epileptic encephalopathy characterized by X-linked domit inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_16196 |
| Doid Id | DOID_0080470 |
| Label | Developmental And Epileptic Encephalopathy 36 |
- 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)