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loading...| Preferred Name | Genetic syndrome with a central nervous system malformation as a major feature | |
| Synonyms |
Genetic syndrome with a CNS malformation as major feature |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_269564 |
|
| alternative_term |
Genetic syndrome with a CNS malformation as major feature |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=269564 |
|
| hasDbXref |
UMLS:C5679763 |
|
| label |
Genetic syndrome with a central nervous system malformation as a major feature |
|
| notation |
ORPHA:269564 Category |
|
| prefixIRI |
ORDO:Orphanet_269564 |
|
| prefLabel |
Genetic syndrome with a central nervous system malformation as a major feature |
|
| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_269564 | CCONT | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_269564 | EFO | SAME_URI |