Preferred Name |
Agenesis of Corpus Callosum |
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Synonyms |
Dysplastic or Absent Corpus Callosum Corpus Callosum Agenesis Absence of Corpus Callosum Callosal Agenesis Absent Corpus Callosum Agenesis of the Corpus Callosum ACC |
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Definitions |
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. |
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ID |
http://purl.obolibrary.org/obo/SCDO_0000032 |
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curator note |
Suggest update to description in HPO. Include links to relevant Therapeutics. |
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definition |
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. |
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definition source |
http://purl.obolibrary.org/obo/HP_0001274 http://rarediseases.org/rare-diseases/agenesis-of-corpus-callosum/ |
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diagnosed using tool | ||
existence in other ontologies |
Suggest update to description |
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hasExactSynonym |
Dysplastic or Absent Corpus Callosum Corpus Callosum Agenesis Absence of Corpus Callosum Callosal Agenesis Absent Corpus Callosum Agenesis of the Corpus Callosum ACC |
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prefixIRI |
SCDO:0000032 |
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prefLabel |
Agenesis of Corpus Callosum |
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rdfs:label |
Agenesis of Corpus Callosum |
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skos:prefLabel |
Agenesis of Corpus Callosum |
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treated with |
http://purl.obolibrary.org/obo/SCDO_0000903 http://purl.obolibrary.org/obo/SCDO_0001133 |
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subClassOf |