FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term lissencephaly 1 ID (Ontology) DOID:0112237 (Human Disease)
Definition A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in heterozygous mutation in the PAFAH1B1 gene on chromosome 17p13.3.
Also Known As "LIS1" ; "PAFAH1B1-related lissencephaly"
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 Genes
 lissencephaly 1       1
 for disease ribbon | lissencephaly 1       1
 model of | lissencephaly 1       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_________
congenital nervous system abnormality  |
 |__lissencephaly______________________|
                                       lissencephaly 1  1 rec.
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Is a lissencephaly
autosomal dominant disease
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Synonyms
  • "LIS1" EXACT OMO:0003012
    "PAFAH1B1-related lissencephaly" EXACT
Secondary IDs
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MIM:607432
ORDO:95232