Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Disease ID: disease_node_16973
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| Dbxref | MIM:614080 |
|---|---|
| Subclassof | DOID_0080503, DOID_0050737 |
| Data Source | DOID |
| Doid Label | multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| Doid Description | A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16973 |
| Doid Id | DOID_0080138 |
| Disease Has Basis In | HP_0001197 |
| Label | Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome(ID:disease_node_16969) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)