Sickle Cell Disease Ontology Project

Agenesis of Corpus Callosum

http://scdontology.h3abionet.org/ontology/SCDO_0000032

A rare congenital disorder characterized by a partial or complete absence (agenesis) of an area of the brain that connects the two cerebral hemispheres. It can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.

Term info

curator note

Suggest update to description in HPO. Include links to relevant Therapeutics.

definition source

http://rarediseases.org/rare-diseases/agenesis-of-corpus-callosum/, http://purl.obolibrary.org/obo/HP_0001274

existence in other ontologies

Suggest update to description

Agenesis of the Corpus Callosum, ACC, Corpus Callosum Agenesis, Absent Corpus Callosum, Callosal Agenesis, Absence of Corpus Callosum, Dysplastic or Absent Corpus Callosum