Cerebral Creatine Deficiency Syndrome
Disease ID: disease_node_20541
Connections displayed (default: 10).
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| Dbxref | MIM:PS300352 |
|---|---|
| Subclassof | DOID_9252 |
| Data Source | DOID |
| Disease Has Location | UBERON_0001893 |
| Doid Label | cerebral creatine deficiency syndrome |
| Doid Description | An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28. |
| Disease Node Id | disease_node_20541 |
| Doid Id | DOID_0050798 |
| Label | Cerebral Creatine Deficiency Syndrome |
- Incoming r'ship
SUBCLASS_OFto/from Cerebral Creatine Deficiency Syndrome 1(ID:disease_node_20542) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Agat Deficiency(ID:disease_node_20543) (Disease)