Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

De Sanctis-Cacchione syndrome

Synonyms

Xeroderma pigmentosum with neurologic manifestation

ID

http://www.orpha.net/ORDO/Orphanet_1569

alternative_term

Xeroderma pigmentosum with neurologic manifestation

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=1569

hasDbXref

UMLS:C0265201

OMIM:278800

MeSH:C535992

label

De Sanctis-Cacchione syndrome

notation

ORPHA:1569

prefixIRI

ORDO:Orphanet_1569

prefLabel

De Sanctis-Cacchione syndrome

reason_for_obsolescence

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Xeroderma pigmentosum

subClassOf

http://www.orpha.net/ORDO/Orphanet_C044

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