About: Neonatal ichthyosis–sclerosing cholangitis syndrome

An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Neonatal ichthyosis–sclerosing cholangitis syndrome (also known as "NISCH syndrome" and "ichthyosis–sclerosing cholangitis syndrome") is a cutaneous condition which is characterized by hypotrichosis of the scalp, alopecia, ichthyosis and sclerosing cholangitis. Only 5 cases from 3 families worldwide have been described in medical literature. It caused by mutations in the Claudin 1 gene.

Property	Value
dbo:abstract	Neonatal ichthyosis–sclerosing cholangitis syndrome (also known as "NISCH syndrome" and "ichthyosis–sclerosing cholangitis syndrome") is a cutaneous condition which is characterized by hypotrichosis of the scalp, alopecia, ichthyosis and sclerosing cholangitis. Only 5 cases from 3 families worldwide have been described in medical literature. It caused by mutations in the Claudin 1 gene. (en)
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dbo:wikiPageWikiLink	dbr:Mutation dbr:Alopecia dbr:Gene dbr:Ichthyosis dbr:Ichthyosis_prematurity_syndrome dbr:Cutaneous_condition dbc:Genodermatoses dbr:Hypotrichosis dbc:Syndromes_affecting_the_skin dbr:Cholangitis dbr:List_of_cutaneous_conditions dbr:Claudin-1
dbp:field	dermatology (en)
dbp:name	Neonatal ichthyosis–sclerosing cholangitis syndrome (en)
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dbp:synonyms	NISCH syndrome (en)
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rdfs:comment	Neonatal ichthyosis–sclerosing cholangitis syndrome (also known as "NISCH syndrome" and "ichthyosis–sclerosing cholangitis syndrome") is a cutaneous condition which is characterized by hypotrichosis of the scalp, alopecia, ichthyosis and sclerosing cholangitis. Only 5 cases from 3 families worldwide have been described in medical literature. It caused by mutations in the Claudin 1 gene. (en)
rdfs:label	Neonatal ichthyosis–sclerosing cholangitis syndrome (en)
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foaf:name	Neonatal ichthyosis–sclerosing cholangitis syndrome (en)
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