Sickle Cell Disease Ontology

Last uploaded: May 6, 2021
Preferred Name

Agenesis of Corpus Callosum

Synonyms

Dysplastic or Absent Corpus Callosum

Corpus Callosum Agenesis

Absence of Corpus Callosum

Callosal Agenesis

Absent Corpus Callosum

Agenesis of the Corpus Callosum

ACC

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.

ID

http://purl.obolibrary.org/obo/SCDO_0000032

curator note

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

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.

definition source

http://purl.obolibrary.org/obo/HP_0001274

http://rarediseases.org/rare-diseases/agenesis-of-corpus-callosum/

diagnosed using tool

http://purl.obolibrary.org/obo/NCIT_C16809

http://purl.obolibrary.org/obo/NCIT_C17230

existence in other ontologies

Suggest update to description

hasExactSynonym

Dysplastic or Absent Corpus Callosum

Corpus Callosum Agenesis

Absence of Corpus Callosum

Callosal Agenesis

Absent Corpus Callosum

Agenesis of the Corpus Callosum

ACC

prefixIRI

SCDO:0000032

prefLabel

Agenesis of Corpus Callosum

rdfs:label

Agenesis of Corpus Callosum

skos:prefLabel

Agenesis of Corpus Callosum

treated with

http://purl.obolibrary.org/obo/SCDO_0000903

http://purl.obolibrary.org/obo/SCDO_0001133

http://purl.obolibrary.org/obo/SCDO_0001129

http://purl.obolibrary.org/obo/SCDO_0000443

subClassOf

http://purl.obolibrary.org/obo/HP_0002060

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/HP_0001274 DDSS LOOM
http://purl.obolibrary.org/obo/HP_0001274 HP LOOM
http://purl.jp/bio/4/id/200906017071637600 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.034 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C23.300.008 RH-MESH LOOM
http://www.limics.fr/ontologies/ontolurgences#AgenesieDuCorpsCalleux ONTOLURGENCES LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/5102002 SNOMEDCT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036529 PMAPP-PMO LOOM
http://purl.org/obo/owl/HP#HP_0001274 BDO LOOM
http://purl.bioontology.org/ontology/SNMI/D4-91110 SNMI LOOM
http://purl.bioontology.org/ontology/RCD/P2280 RCD LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Agenesis_of_Corpus_Callosum PEDTERM LOOM
http://purl.obolibrary.org/obo/OMIT_0027889 OMIT LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU004110 OMIM LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0175754 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.034 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D061085 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D061085 RH-MESH LOOM
http://purl.obolibrary.org/obo/HP_0001274 HHEAR LOOM
http://purl.obolibrary.org/obo/HP_0001274 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0001274 NIFSTD LOOM
rgo:26534 GAMUTS LOOM
http://purl.obolibrary.org/obo/HP_0001274 DOID LOOM
http://purl.obolibrary.org/obo/HP_0001274 EFO LOOM
http://purl.obolibrary.org/obo/HP_0001274 OBA LOOM