Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Disease ID: disease_node_16969
Connections displayed (default: 10).
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| Dbxref | GARD:12781, MIM:PS614080, ORDO:280633 |
|---|---|
| Subclassof | DOID_3146, DOID_0080015 |
| Data Source | DOID |
| Doid Label | multiple congenital anomalies-hypotonia-seizures syndrome |
| Doid Description | A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies. |
| Disease Node Id | disease_node_16969 |
| Doid Id | DOID_0080503 |
| Disease Has Basis In | HP_0001197 |
| Label | Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
- Incoming r'ship
SUBCLASS_OFto/from Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2(ID:disease_node_16972) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3(ID:disease_node_16971) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1(ID:disease_node_16973) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Lipid Metabolism, Inborn Errors(ID:disease_node_4772) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Physical Disorder(ID:disease_node_13159) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4(ID:disease_node_16970) (Disease)