Lissencephaly 1
Disease ID: disease_node_19266
Connections displayed (default: 10).
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| Dbxref | MIM:607432, ORDO:95232 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050453 |
| Data Source | DOID |
| Synonyms | LIS1, PAFAH1B1-related lissencephaly |
| Doid Label | lissencephaly 1 |
| Doid Description | A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19266 |
| Doid Id | DOID_0112237 |
| Label | Lissencephaly 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Lissencephaly(ID:disease_node_11852) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)