National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
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Preferred Name

Epidermolysis Bullosa Dystrophica
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84691
code

C84691
DEFINITION

A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.
label

Epidermolysis Bullosa Dystrophica
Preferred_Name

Epidermolysis Bullosa Dystrophica
prefixIRI

C84691
prefLabel

Epidermolysis Bullosa Dystrophica
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0079294
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C67383
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10/Q81.2 International Classification of Diseases, Version 10 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q81.2 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://purl.bioontology.org/ontology/MESH/D016108 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_4959 Human Disease Ontology 123 LOOM