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