Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Agenesis of Corpus Callosum
Synonyms	Corpus Callosum Hypogeneses Dysgeneses, Corpus Callosum Corpus Callosum Hypogenesis Dysgenesis, Corpus Callosum Corpus Callosum Agenesis Agenesis, Corpus Callosum Corpus Callosum Dysgenesis Corpus Callosum Malformation Corpus Callosum, Agenesis Of Hypogeneses, Corpus Callosum Absence of Corpus Callosum Hypogenesis, Corpus Callosum Corpus Callosum Absence Corpus Callosum Dysgeneses Corpus Callosum Absences Corpus Callosum Ageneses Ageneses, Corpus Callosum
Definitions	Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
ID	http://purl.bioontology.org/ontology/MESH/D061085
altLabel	Corpus Callosum Hypogeneses Dysgeneses, Corpus Callosum Corpus Callosum Hypogenesis Dysgenesis, Corpus Callosum Corpus Callosum Agenesis Agenesis, Corpus Callosum Corpus Callosum Dysgenesis Corpus Callosum Malformation Corpus Callosum, Agenesis Of Hypogeneses, Corpus Callosum Absence of Corpus Callosum Hypogenesis, Corpus Callosum Corpus Callosum Absence Corpus Callosum Dysgeneses Corpus Callosum Absences Corpus Callosum Ageneses Ageneses, Corpus Callosum
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0175754 C3179058
DC	1
definition	Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.
DX	20120101
HN	2012; for Absence of Corpus Callosum use Acrocallosal Syndrome 2009-2011; for Agenesis of Corpus Callosum use Aicardi Syndrome 2011
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation	2012; for Absence of Corpus Callosum see Acrocallosal Syndrome 2009-2011; for Agenesis of Corpus Callosum see Aicardi Syndrome 2011
Mapped from	http://purl.bioontology.org/ontology/MESH/C567055 http://purl.bioontology.org/ontology/MESH/C563110 http://purl.bioontology.org/ontology/MESH/C564509 http://purl.bioontology.org/ontology/MESH/C535566 http://purl.bioontology.org/ontology/MESH/C537962 http://purl.bioontology.org/ontology/MESH/C537965 http://purl.bioontology.org/ontology/MESH/C563478 http://purl.bioontology.org/ontology/MESH/C537923 http://purl.bioontology.org/ontology/MESH/C538335 http://purl.bioontology.org/ontology/MESH/C565605 http://purl.bioontology.org/ontology/MESH/C564115 http://purl.bioontology.org/ontology/MESH/C536111 http://purl.bioontology.org/ontology/MESH/C537547 http://purl.bioontology.org/ontology/MESH/C559045 http://purl.bioontology.org/ontology/MESH/C548086 http://purl.bioontology.org/ontology/MESH/C537193 http://purl.bioontology.org/ontology/MESH/C536390 http://purl.bioontology.org/ontology/MESH/C535459 http://purl.bioontology.org/ontology/MESH/C566989 http://purl.bioontology.org/ontology/MESH/C563127 http://purl.bioontology.org/ontology/MESH/C531731 http://purl.bioontology.org/ontology/MESH/C535427 http://purl.bioontology.org/ontology/MESH/C537076 http://purl.bioontology.org/ontology/MESH/C537594 http://purl.bioontology.org/ontology/MESH/C535719 http://purl.bioontology.org/ontology/MESH/C536701 http://purl.bioontology.org/ontology/MESH/C566468 http://purl.bioontology.org/ontology/MESH/C536135 http://purl.bioontology.org/ontology/MESH/C536446 http://purl.bioontology.org/ontology/MESH/C537508 http://purl.bioontology.org/ontology/MESH/C536898 http://purl.bioontology.org/ontology/MESH/C536959
MDA	20110627
MMR	20120703
MN	C16.131.666.034 C10.500.034 C23.300.008
notation	D061085
prefLabel	Agenesis of Corpus Callosum
TERMUI	T716305 T788461 T788541 T766629 T812085 T788466 T716304
TH	OMIM (2013) NLM (2009) NLM (2012) NLM (2011) ORD (2010)
tui	T019
subClassOf	http://purl.bioontology.org/ontology/MESH/D009421 http://purl.bioontology.org/ontology/MESH/D020763

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10063756	MDRGER	CUI
http://purl.bioontology.org/ontology/MSHFRE/D061085	MSHFRE	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000183381	NDFRT	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU000061	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/217990	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU051057	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU031863	OMIM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10063756	MEDDRA	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU022910	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/5102002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q04.0	ICD10CM	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU076559	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU012138	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU007063	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/5102002	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNMI/D4-91110	SNMI	CUI
http://purl.bioontology.org/ontology/RCD/P2280	RCD	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU004110	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU001604	OMIM	CUI
http://purl.bioontology.org/ontology/MSHFRE/D061085	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU068747	OMIM	CUI
http://purl.bioontology.org/ontology/MDRFRE/10063756	MDRFRE	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU005338	OMIM	CUI
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://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
http://purl.obolibrary.org/obo/SCDO_0000032	SCDO	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