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acrocallosal syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008708

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. [ Orphanet:36 ]

Term info

database cross reference
  • GARD:0005721 (MONDO:equivalentTo)
  • MESH:D055673 (MONDO:equivalentTo)
  • UMLS:C0796147 (Orphanet:36/e)
  • SCTID:715951007 (MONDO:equivalentTo)
  • OMIM:200990 (Orphanet:36/e)
  • Orphanet:36 (OMIM:200990)
  • DOID:9250 (MONDO:equivalentTo)
  • NCIT:C84531 (MONDO:equivalentTo)
Subsets

ordo_malformation_syndrome

abbreviation
ACLS [ MONDO:Lexical DOID:9250 OMIM:200990 ]

abbreviation
ACS [ Orphanet:36 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588, https://github.com/monarch-initiative/mondo/issues/4948

definition

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

exactMatch

http://purl.obolibrary.org/obo/DOID_9250, http://identifiers.org/mesh/D055673, http://linkedlifedata.com/resource/umls/id/C0796147, http://identifiers.org/snomedct/715951007, http://purl.obolibrary.org/obo/Orphanet_36, https://omim.org/entry/200990, http://purl.obolibrary.org/obo/NCIT_C84531

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has exact synonym

ACS, acrocallosal syndrome, Schinzel acrocallosal syndrome, ACLS, Schinzel syndrome 1

has related synonym

acrocallosal syndrome, Schinzel type, Joubert syndrome 12, Joubert syndrome 12/15, digenic, hallux Duplication, postaxial polydactyly, and absence of corpus callosum, absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly

id

MONDO:0008708