Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
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Preferred Name

Acrocallosal syndrome
Synonyms

ACS
Definitions

A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability.
ID

http://www.orpha.net/ORDO/Orphanet_36
alternative_term

ACS
definition

A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36
has_age_of_onset

Neonatal
has_inheritance

Autosomal recessive
hasDbXref

OMIM:200990

ICD-10:Q04.0

UMLS:C0796147

MeSH:D055673

MedDRA:10083865

ICD-11:LD2F.1Y
label

Acrocallosal syndrome
notation

ORPHA:36
part_of

http://www.orpha.net/ORDO/Orphanet_199639

http://www.orpha.net/ORDO/Orphanet_139393

http://www.orpha.net/ORDO/Orphanet_269573

http://www.orpha.net/ORDO/Orphanet_611327

http://www.orpha.net/ORDO/Orphanet_102283

http://www.orpha.net/ORDO/Orphanet_294959
prefixIRI

ORDO:Orphanet_36
prefLabel

Acrocallosal syndrome
present_in

Worldwide AND has_point_prevalence_range : <1 / 1 000 000

Worldwide AND has_cases/families_value : 38.0 (Case)
treeView

http://www.orpha.net/ORDO/Orphanet_199639

http://www.orpha.net/ORDO/Orphanet_139393

http://www.orpha.net/ORDO/Orphanet_269573

http://www.orpha.net/ORDO/Orphanet_611327

http://www.orpha.net/ORDO/Orphanet_102283

http://www.orpha.net/ORDO/Orphanet_294959
subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493
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http://www.orpha.net/ORDO/Orphanet_36 EFO SAME_URI
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.bioontology.org/ontology/MESH/D055673 MESH 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
http://www.gamuts.net/entity#acrocallosal_syndrome GAMUTS REST