Jump to:
Spinner 000000 16px loading...
Preferred Name

Epidermolysis Bullosa Dystrophica
ID

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

C84691
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 type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.
FULL_SYN

Epidermolysis Bullosa Dystrophica
label

Epidermolysis Bullosa Dystrophica
Preferred_Name

Epidermolysis Bullosa Dystrophica
prefixIRI

Thesaurus: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
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10/Q81.2 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q81.2 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 LOOM
http://www.ebi.ac.uk/efo/EFO_1000692 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0006543 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D016108 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/DOID_4959 Human Disease Ontology / 人类疾病本体 LOOM