Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Rare genetic disease

Synonyms
ID

http://www.orpha.net/ORDO/Orphanet_98053

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98053

hasDbXref

UMLS:C5681510

label

Rare genetic disease

notation

ORPHA:98053

Category

Head of classification

prefixIRI

ORDO:Orphanet_98053

prefLabel

Rare genetic disease

subClassOf

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

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http://www.limics.org/hrdo/rdfns#pat_id_13071 HRDO LOOM