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DO Term : lissencephaly 5 [DOID:0112230] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1.
  • synonyms:
  • 615191,
  • LIS5,
  • OMIM:615191
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Disease

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Diseases --> Mouse genes

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents