epidermolysis bullosa herpetiformis (Q5382846)

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Human disease

• epidermolysis bullosa simplex Dowling-Meara type
• EBS-gen sev
• EBSDM
• epidermolysis bullosa herpetiformis Dowling-Meara type
• epidermolysis bullosa simplex, herpetiformis
• generalized severe epidermolysis bullosa simplex
• Epidermolysis Bullosa Simplex, Generalized Severe
• EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM
• Dowling-Meara type epidermolysis bullosa simplex
• EBS-DM
• EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
• Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type

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Language	Label	Description	Also known as
English	epidermolysis bullosa herpetiformis	Human disease	epidermolysis bullosa simplex Dowling-Meara type EBS-gen sev EBSDM epidermolysis bullosa herpetiformis Dowling-Meara type epidermolysis bullosa simplex, herpetiformis generalized severe epidermolysis bullosa simplex Epidermolysis Bullosa Simplex, Generalized Severe EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM Dowling-Meara type epidermolysis bullosa simplex EBS-DM EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE Epidermolysis Bullosa Herpetiformis, Dowling-Meara Type

Statements

instance of

class of disease

0 references

subclass of

epidermolysis bullosa simplex

1 reference

stated in

Disease Ontology

retrieved

29 November 2020

Disease Ontology ID

DOID:0060735

basal epidermolysis bullosa simplex

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0007550

genetic disease

1 reference

stated in

Disease Ontology

retrieved

15 May 2019

Disease Ontology ID

DOID:0060735

autosomal dominant disease

1 reference

stated in

Disease Ontology

retrieved

29 November 2020

Disease Ontology ID

DOID:0060735

health specialty

medical genetics

0 references

genetic association

KRT14

3 references

stated in

UniProt

UniProt protein ID

P02533

retrieved

13 August 2019

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000186847/MONDO_0007550

based on heuristic

inferred from an Open Targets association score over 0.7

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000186847/Orphanet_79396

based on heuristic

inferred from an Open Targets association score over 0.7

KRT5

1 reference

stated in

UniProt

UniProt protein ID

P13647

retrieved

13 August 2019

on focus list of Wikimedia project

WikiProject Medicine

0 references

ICD-9-CM

771.2

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0007550

exact match

http://purl.obolibrary.org/obo/DOID_0060735

1 reference

stated in

Disease Ontology

retrieved

29 November 2020

Disease Ontology ID

DOID:0060735

http://identifiers.org/doid/DOID:0060735

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_79396

0 references

Identifiers

Disease Ontology ID

DOID:0060735

1 reference

stated in

Disease Ontology

retrieved

29 November 2020

Disease Ontology ID

DOID:0060735

DiseasesDB

33248

1 reference

imported from Wikimedia project

English Wikipedia

GARD rare disease ID

2141

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0007550

ICD-10-CM

Q81.0

2 references

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0060735

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0007550

Mondo ID

MONDO_0007550

0 references

OMIM ID

131760

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0060735

Orphanet ID

79396

1 reference

stated in

Disease Ontology

retrieved

28 August 2019

Disease Ontology ID

DOID:0060735

UMLS CUI

C0079295

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0007550

 

Sitelinks

Wikipedia(1 entry)

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• enwiki Epidermolysis bullosa herpetiformis

Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(0 entries)

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Retrieved from "https://www.wikidata.org/w/index.php?title=Q5382846&oldid=2087139561"