PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
Preferred Name

Acrocallosal Syndrome

Synonyms
Definitions

A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.

ID

http://www.phoc.org.cn/pmo/class/PMO_00036530

Database_Cross_Reference

MTH:NOCODE

NCI:C84531

DO:DOID:9250

CHV:0000048962

NDFRT:N0000181177

SNOMEDCT_US:715951007

OMIM:611254

JABL:577

OMIM:200990

MSH:D055673

Definition

A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation.

label

Acrocallosal Syndrome

MCID

MC00275600

PMOID

PMO:00036530

prefixIRI

pmo:PMO_00036530

prefLabel

Acrocallosal Syndrome

Synonym

Acrocallosal Syndromes

Syndrome, Acrocallosal

Acrocallosal syndrome

Schinzel syndrome 1

SCHINZEL ACROCALLOSAL SYNDROME

Syndromes, Acrocallosal

ACROCALLOSAL SYNDROME

ACLS

Acrocallosal syndrome (disorder)

Acrocallosal Syndrome [Disease/Finding]

Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum

acrocallosal syndrome (ACS)

acrocallosal syndrome

HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM

Tree Number

T9.18.3.32.3

T9.21.16.10.3

T9.8.3.20.10.3

subClassOf

http://www.phoc.org.cn/pmo/class/PMO_00036529

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Delete Mapping To Ontology Source
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.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.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