Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Epidermolysis Bullosa Dystrophica
Synonyms
Definitions

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.
ID

http://purl.obolibrary.org/obo/NCIT_C84691
code

C84691
Contributing_Source

Cellosaurus
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.
in_subset

http://purl.obolibrary.org/obo/NCIT_C165258
label

Epidermolysis Bullosa Dystrophica
Preferred_Name

Epidermolysis Bullosa Dystrophica
prefixIRI

NCIT:C84691
prefLabel

Epidermolysis Bullosa Dystrophica
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0079294
subClassOf

http://purl.obolibrary.org/obo/NCIT_C67383
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http://purl.obolibrary.org/obo/DOID_4959 DOID LOOM
http://purl.obolibrary.org/obo/DOID_4959 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_4959 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_4959 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_4959 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_4959 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Epidermolysis_Bullosa_Dystrophica CSEO LOOM
http://purl.bioontology.org/ontology/MESH/D016108 MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/PH3y900 RCTV2 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016108 RH-MESH LOOM
http://www.ebi.ac.uk/efo/EFO_1000692 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_1000692 EFO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_4959 NATPRO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.275.160 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0016672 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.804.493.160 RH-MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0006543 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0006543 DOVES LOOM
http://purl.bioontology.org/ontology/ICD10/Q81.2 ICD10 LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.831.493.160 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.300.200.367 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.275.160 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00039228 PMAPP-PMO LOOM
http://purl.jp/bio/4/id/200906040511933763 IOBC LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q81.2 ICD10CM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84691 NCIT LOOM
rgo:08606 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.865.410.160 RH-MESH LOOM