Preferred Name | lissencephaly 1 | |
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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 PAFAH1B1 on chromosome 17p13.3. |
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ID |
http://purl.obolibrary.org/obo/DOID_0112237 |
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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 PAFAH1B1 on chromosome 17p13.3. |
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imported from | ||
label |
lissencephaly 1 |
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prefixIRI |
DOID:0112237 |
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prefLabel |
lissencephaly 1 |
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subClassOf |
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