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DO Term : lissencephaly 7 with cerebellar hypoplasia [DOID:0112231] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1.
  • synonyms:
  • LIS7,
  • 616342,
  • OMIM:616342
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents