National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Epidermolysis Bullosa Simplex
Synonyms

Epidermolysis Bullosa Simplex
Definitions

A genetic skin disorder caused by mutations in the KRT5 and KRT14 genes. It is characterized by the formation of blisters and increased fragility of the skin.
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84692
code

C84692
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258
Contributing_Source

Cellosaurus
DEFINITION

A genetic skin disorder caused by mutations in the KRT5 and KRT14 genes. It is characterized by the formation of blisters and increased fragility of the skin.
FULL_SYN

Epidermolysis Bullosa Simplex
label

Epidermolysis Bullosa Simplex
Preferred_Name

Epidermolysis Bullosa Simplex
prefixIRI

Thesaurus:C84692
Related_To_Genetic_Biomarker

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C105981

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C105679
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0079298
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C67383
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Delete Mapping To Ontology Source
http://nanbyodata.jp/ontology/NANDO_1200235 NANDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Epidermolysis_Bullosa_Simplex CSEO LOOM
http://purl.bioontology.org/ontology/ICD10/Q81.0 ICD10 LOOM
http://purl.bioontology.org/ontology/RCTV2/PH3y700 RCTV2 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU036723 OMIM LOOM
http://purl.bioontology.org/ontology/MEDDRA/10087382 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.493.180 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/X78CT RCD LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:2115 IFAR LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.275.180 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/67144006 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/NCIT_C84692 BERO LOOM
http://purl.obolibrary.org/obo/OMIT_0016674 OMIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_641 HRDO LOOM
http://purl.obolibrary.org/obo/DOID_4644 DOID LOOM
http://purl.obolibrary.org/obo/DOID_4644 BAO LOOM
http://purl.obolibrary.org/obo/DOID_4644 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_4644 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_4644 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_4644 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_4644 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.493.180 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.275.180 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2201341 NANDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4644 NATPRO LOOM
http://purl.bioontology.org/ontology/MESH/D016110 MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D6-90940 SNMI LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036743 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016110 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_304 ORDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q81.0 ICD10CM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.865.410.180 RH-MESH LOOM
http://purl.jp/bio/4/id/200906069139256510 IOBC LOOM
http://purl.obolibrary.org/obo/DERMO_0001582 DERMO LOOM
http://purl.obolibrary.org/obo/MONDO_0017610 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0017610 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0017610 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0017610 DOVES LOOM