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Orphanet Rare Disease Ontology
Last uploaded:
December 10, 2025
| Id | http://www.orpha.net/ORDO/Orphanet_269564
http://www.orpha.net/ORDO/Orphanet_269564
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|---|---|
| Preferred Name | Genetic syndrome with a central nervous system malformation as a major feature |
| Synonyms |
Genetic syndrome with a CNS malformation as major feature
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| prefLabel | Genetic syndrome with a central nervous system malformation as a major feature
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|---|---|
| label | Genetic syndrome with a central nervous system malformation as a major feature
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| type | |
| website link | |
| expert link | |
| notation |
ORPHA:269564
Category
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| prefixIRI | ORDO:Orphanet_269564
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| hasDbXref | UMLS:C5679763
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| alternative_term | Genetic syndrome with a CNS malformation as major feature
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |