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 |
|
| altLabel |
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 |
|
| 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. |
|
| has_exact_synonym |
Schinzel syndrome 1 ACLS Schinzel acrocallosal syndrome acrocallosal syndrome ACS |
|
| 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 | ||
| label |
acrocallosal syndrome |
|
| prefixIRI |
MONDO:0008708 |
|
| prefLabel |
acrocallosal syndrome |
|
| textual 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015159 |