Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Syndrome with a central nervous system malformation as a major feature
Synonyms
ID

http://www.orpha.net/ORDO/Orphanet_108991

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=108991

hasDbXref

UMLS:C5681756

label

Syndrome with a central nervous system malformation as a major feature

notation

ORPHA:108991

Category

prefixIRI

ORDO:Orphanet_108991

prefLabel

Syndrome with a central nervous system malformation as a major feature

subClassOf

http://www.orpha.net/ORDO/Orphanet_557492

http://www.orpha.net/ORDO/Orphanet_98044

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