loading...| Preferred Name |
acrocallosal syndrome |
|
| Synonyms |
Joubert syndrome 12/15, digenic acrocallosal syndrome, Schinzel type Joubert syndrome 12 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 Schinzel syndrome 1 ACLS Schinzel acrocallosal syndrome acrocallosal syndrome ACS |
|
| Definitions |
Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008708 |
|
| database_cross_reference |
Orphanet:36 MESH:D055673 DOID:9250 NCIT:C84531 GARD:5721 SCTID:715951007 OMIM:200990 UMLS:C0796147 |
|
| 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://purl.obolibrary.org/obo/Orphanet_36 http://identifiers.org/snomedct/715951007 http://identifiers.org/mesh/D055673 |
|
| has_exact_synonym |
Schinzel syndrome 1 ACLS Schinzel acrocallosal syndrome acrocallosal syndrome ACS |
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| has_related_synonym |
Joubert syndrome 12/15, digenic acrocallosal syndrome, Schinzel type Joubert syndrome 12 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 |
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/6882 |
|
| id |
MONDO:0008708 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome |
|
| label |
acrocallosal syndrome |
|
| notation |
MONDO:0008708 |
|
| preferred label |
acrocallosal syndrome |
|
| prefLabel |
acrocallosal syndrome |
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| excluded_subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0800463 http://purl.obolibrary.org/obo/MONDO_0015159 |