(Q5382847)

English

epidermolysis bullosa simplex of Ogna

Human disease

epidermolysis bullosa simplex Ogna type
EBS-O
EBS-Og
EBSOG
EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE
EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE; EBSOG

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epidermolysis bullosa simplex

1 reference

29 November 2020

basal epidermolysis bullosa simplex

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

15 May 2019

autosomal dominant disease

1 reference

29 November 2020

0 references

3 references

13 August 2019

A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000178209/Orphanet_79401

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

ICD-9-CM

757.39

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://purl.obolibrary.org/obo/DOID_0060736

1 reference

29 November 2020

http://identifiers.org/doid/DOID:0060736

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_79401

0 references

Identifiers

MeSH descriptor ID

C535962

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

29 November 2020

1 reference

imported from Wikimedia project

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

2 references

28 August 2019

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0007555

ICD-11 ID (Foundation)

0 references

0 references

1 reference

28 August 2019

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0007555

Sitelinks

Wikipedia(1 entry)

enwiki Epidermolysis bullosa simplex of Ogna

(Q5382847)

epidermolysis bullosa simplex of Ogna

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Wikipedia(1 entry)

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