Preferred Name

epidermolysis bullosa dystrophica
Synonyms

epidermolysis bullosa, dermolytic

epidermolysis bullosa dystrophica

dermolytic epidermolysis bullosa

DEB

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/MONDO_0006543

altLabel

epidermolysis bullosa, dermolytic

epidermolysis bullosa dystrophica

dermolytic epidermolysis bullosa

DEB

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.

has_exact_synonym

epidermolysis bullosa dystrophica

dermolytic epidermolysis bullosa

DEB

has_related_synonym

epidermolysis bullosa, dermolytic

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/3856

label

epidermolysis bullosa dystrophica

prefixIRI

MONDO:0006543

prefLabel

epidermolysis bullosa dystrophica

textual 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.

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019276

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0006543 MONDO SAME_URI
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.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://purl.obolibrary.org/obo/NCIT_C84691 BERO 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