Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
Synonyms
ID

http://www.orpha.net/ORDO/Orphanet_522506

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=522506

hasDbXref

UMLS:C5681438

label

Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature

notation

ORPHA:522506

Category

prefixIRI

ORDO:Orphanet_522506

prefLabel

Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature

subClassOf

http://www.orpha.net/ORDO/Orphanet_183616

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

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