Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 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 / 医学主题词表 LOOM
http://www.ebi.ac.uk/efo/EFO_1000690 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/ICD10/Q81 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q81 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM
http://purl.obolibrary.org/obo/DOID_2730 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_2730 BioAssay Ontology / 生物活性分析本体 SAME_URI
http://purl.obolibrary.org/obo/MONDO_0006541 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C67383 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/EC3Z 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM