About: Fechtner syndrome

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

Fechtner syndrome is a variant of Alport syndrome characterized by leukocyte inclusions, macrothrombocytopenia, thrombocytopenia, nephritis, and sensorineural hearing loss. Some patients may also develop cataracts.

Property	Value
dbo:abstract	Fechtner syndrome is a variant of Alport syndrome characterized by leukocyte inclusions, macrothrombocytopenia, thrombocytopenia, nephritis, and sensorineural hearing loss. Some patients may also develop cataracts. (en) Das Fechtner-Syndrom ist eine sehr seltene autosomal-dominante Erbkrankheit. Sie wird durch eine Mutation des MYH9-Gens verursacht. Das Fechtner-Syndrom gehört zusammen mit dem Sebastian-Syndrom, dem Epstein-Syndrom und der May-Hegglin-Anomalie zur Gruppe der MYH9-assoziierten Erkrankungen. (de)
dbo:icd10	D69.4
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dbo:orpha	1984
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dbo:wikiPageWikiLink	dbc:Cytoskeletal_defects dbc:Kidney_diseases dbr:Harris_platelet_syndrome dbc:Coagulopathies dbr:Alport_syndrome dbc:Syndromes_affecting_the_kidneys dbc:Syndromes_affecting_hearing dbc:Syndromes_affecting_blood dbr:Nephritis dbr:Sensorineural_hearing_loss dbr:Thrombocytopenia
dbp:caption	Fechtner syndrome is inherited in an autosomal dominant manner. (en)
dbp:icd	D69.4 (en)
dbp:mesh	537078.0
dbp:omim	153640 (xsd:integer)
dbp:orphanet	1984 (xsd:integer)
dbp:synonyms	Alport syndrome with leukocyte inclusions and macrothrombocytopenia (en)
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gold:hypernym	dbr:Variant
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rdfs:comment	Fechtner syndrome is a variant of Alport syndrome characterized by leukocyte inclusions, macrothrombocytopenia, thrombocytopenia, nephritis, and sensorineural hearing loss. Some patients may also develop cataracts. (en) Das Fechtner-Syndrom ist eine sehr seltene autosomal-dominante Erbkrankheit. Sie wird durch eine Mutation des MYH9-Gens verursacht. Das Fechtner-Syndrom gehört zusammen mit dem Sebastian-Syndrom, dem Epstein-Syndrom und der May-Hegglin-Anomalie zur Gruppe der MYH9-assoziierten Erkrankungen. (de)
rdfs:label	Fechtner-Syndrom (de) Fechtner syndrome (en)
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