(Q55784576)

English

corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

human disease

CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA; CIDED
CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA
CIDED

In more languages

Statements

0 references

class of disease

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autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

epithelial and subepithelial dystrophy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

3 references

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).

Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000091592/MONDO_0014089

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_352662

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Identifiers

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

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