National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Erythrokeratodermia Variabilis

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84696

code

C84696

DEFINITION

A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents.

label

Erythrokeratodermia Variabilis

Preferred_Name

Erythrokeratodermia Variabilis

prefixIRI

C84696

prefLabel

Erythrokeratodermia Variabilis

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0265961

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C27555

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http://purl.bioontology.org/ontology/MESH/D056266 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0050467 Human Disease Ontology 123 LOOM