loading...| Preferred Name | lissencephaly 1 | |
| Synonyms |
PAFAH1B1-related lissencephaly LIS1 |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0112237 |
|
| alternative label |
PAFAH1B1-related lissencephaly LIS1 |
|
| database_cross_reference |
OMIM:607432 ORDO:95232 |
|
| definition |
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 exact synonym |
PAFAH1B1-related lissencephaly LIS1 |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0112237 |
|
| in_subset | ||
| label |
lissencephaly 1 |
|
| notation |
DOID:0112237 |
|
| note |
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. |
|
| preferred label |
lissencephaly 1 |
|
| prefLabel |
lissencephaly 1 |
|
| subClassOf |