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DO Term : lissencephaly 8 [DOID:0112233] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32.
  • synonyms:
  • OMIM:617255,
  • LIS8,
  • 617255
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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