Medical Subject Headings

Last uploaded: January 31, 2024

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Preferred Name	Acrocallosal Syndrome
Synonyms	Syndrome, Acrocallosal Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum Syndromes, Acrocallosal Acrocallosal Syndromes
Definitions	Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.
ID	http://purl.bioontology.org/ontology/MESH/D055673
altLabel	Syndrome, Acrocallosal Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum Syndromes, Acrocallosal Acrocallosal Syndromes
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	C0796147
DC	1
definition	Autosomal recessive syndrome characterized by hypogenesis or agenesis of CORPUS CALLOSUM. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.
DX	20090101
HN	2009
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	2009
Mapped from	http://purl.bioontology.org/ontology/MESH/C538177
MDA	20080708
MMR	20120703
MN	C10.500.034.500 C16.131.666.034.500
notation	D055673
prefLabel	Acrocallosal Syndrome
TERMUI	T824600 T716303
TH	OMIM (2013) NLM (2009) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D061085

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D055673	MSHFRE	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181177	NDFRT	CUI
http://purl.bioontology.org/ontology/MDRFRE/10083865	MDRFRE	CUI
http://purl.bioontology.org/ontology/OMIM/611254	OMIM	CUI
http://purl.bioontology.org/ontology/MDRGER/10083865	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10083865	MEDDRA	CUI
http://purl.bioontology.org/ontology/OMIM/200990	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/715951007	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/715951007	SNOMEDCT	CUI
http://www.orpha.net/ORDO/Orphanet_36	ORDO	LOOM
http://purl.jp/bio/4/id/200906044777454904	IOBC	LOOM
http://identifiers.org/omim/200990	REXO	LOOM
http://identifiers.org/omim/200990	GEXO	LOOM
http://identifiers.org/omim/200990	RETO	LOOM
http://www.gamuts.net/entity#acrocallosal_syndrome	GAMUTS	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84531	NCIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D055673	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIM_200990	CCO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Acrocallosal_Syndrome	CSEO	LOOM
http://purl.obolibrary.org/obo/DOID_9250	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_9250	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_9250	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_9250	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_9250	FNS-H	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036530	PMAPP-PMO	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9250	NATPRO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.666.034.500	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10083865	MEDDRA	LOOM
http://id.nlm.nih.gov/mesh/D055673	MDM	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Acrocallosal_Syndrome	ESSO	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Acrocallosal_Syndrome	MEPO	LOOM
http://purl.obolibrary.org/obo/OMIT_0026419	OMIT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.500.034.500	RH-MESH	LOOM
http://purl.bioontology.org/ontology/OMIM/200990	OMIM	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_405	HRDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008708	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008708	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008708	DOVES	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0796147	OCHV	LOOM
http://purl.obolibrary.org/obo/NCIT_C84531	BERO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/715951007	SNOMEDCT	LOOM
http://purl.org/skeletome/bonedysplasia#Acrocallosal_syndrome	BDO	LOOM