Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

epidermolysis bullosa

Synonyms

acantholysis bullosa

Definitions

A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.

ID

http://purl.obolibrary.org/obo/DOID_2730

database_cross_reference

NCI:C67383

GARD:6359

ICD10CM:Q81

SNOMEDCT_US_2022_09_01:205580008

MESH:D004820

UMLS_CUI:C0014527

definition

A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin.

has exact synonym

acantholysis bullosa

has_obo_namespace

disease_ontology

id

DOID:2730

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#NCIthesaurus

label

epidermolysis bullosa

notation

DOID:2730

prefLabel

epidermolysis bullosa

subClassOf

http://purl.obolibrary.org/obo/DOID_2731

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http://purl.bioontology.org/ontology/MESH/D004820 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10/Q81 International Classification of Diseases, Version 10 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q81 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C67383 National Cancer Institute Thesaurus LOOM
http://purl.bmicc.cn/ontology/ICD11CN/EC3Z International Classification of Diseases, 11th Edition, China LOOM