(Q6393657)

English

Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome

medical condition

Klick Syndrome
KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA

In more languages

Statements

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class of disease

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palmoplantar keratosis

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congenital ichthyosis

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inherited non-syndromic ichthyosis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

autosomal dominant diffuse mutilating palmoplantar keratoderma

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

1 reference

A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis

http://www.orpha.net/ORDO/Orphanet_281201

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Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

ICD-11 (foundation)

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Microsoft Academic ID

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mapping relation type

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imported from Wikimedia project

English Wikipedia

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

UniProt disease ID

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Sitelinks

Wikipedia(1 entry)

enwiki Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome

Wikibooks(0 entries)

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Wikiquote(0 entries)

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