(Q55783523)

English

skin fragility-woolly hair-palmoplantar keratoderma syndrome

human disease

SKIN FRAGILITY-WOOLLY HAIR SYNDROME; SFWHS
Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome
Skin fragility woolly hair syndrome
SKIN FRAGILITY-WOOLLY HAIR SYNDROME
SFWHS
Skin fragility-woolly hair-palmoplantar keratoderma syndrome

In more languages

Statements

0 references

class of disease

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syndrome with woolly hair

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

2 references

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000096696/MONDO_0011882

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_293165

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Identifiers

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GARD rare disease ID

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

ICD-11 (foundation)

0 references

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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

Sitelinks

Wikipedia(1 entry)

enwiki Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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