Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Disease ID: disease_node_16972
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| Dbxref | GARD:12777, MIM:300868, ORDO:300496 |
|---|---|
| Subclassof | DOID_0080012, DOID_0080503 |
| Data Source | DOID |
| Synonyms | developmental and epileptic encephalopathy 20, early infantile epileptic encephalopathy 20, glycosylphosphatidylinositol biosynthesis defect 4 |
| Doid Label | multiple congenital anomalies-hypotonia-seizures syndrome 2 |
| Doid Description | A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_16972 |
| Doid Id | DOID_0080139 |
| Disease Has Basis In | HP_0001197 |
| Label | Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
| Doid Alternate Ids | DOID_0080466 |
- Outgoing r'ship
SUBCLASS_OFto/from Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome(ID:disease_node_16969) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)