Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

Epstein syndrome
Synonyms

Alport syndrome with macrothrombocytopenia

ID

http://www.orpha.net/ORDO/Orphanet_1019

alternative_term

Alport syndrome with macrothrombocytopenia

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1019

hasDbXref

UMLS:C0398641

label

Epstein syndrome

notation

ORPHA:1019

prefixIRI

ORDO:Orphanet_1019

prefLabel

Epstein syndrome

reason_for_obsolescence

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MYH9-related disease

subClassOf

http://www.orpha.net/ORDO/Orphanet_C045

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