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Statements

Subject Item
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dbr:Brachydactyly_type_D
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rdf:type
wikidata:Q12136 dbo:Disease owl:Thing
rdfs:label
Brachydaktylie Typ D Braquidactilia tipo D Brachydactyly type D
rdfs:comment
Die Brachydaktylie Typ D (auch Brachymegalodactylismus) ist die häufigste Form der Brachydaktylie, und bezeichnet eine angeborene Fehlbildung des Skelettes, die klinisch mit kurzem, dickem Daumen und breitem Nagelbett anschaulich ist. Der Grosszeh kann gleichfalls verkürzt und verdickt sein. Das Endglied (distale Phalanx) betroffener Daumen hat gewöhnlicherweise zwischen 50 und 66 Prozent der Länge nichtbetroffener Daumen. Die Erstbeschreibung dieses Types stammt aus dem Jahre 1928 durch O. Thomsen. La braquidactilia tipo D, también llamado pulgar corto o pulgar gordo, o más formalmente, braquimegalodactilia, es una malformación congénita hereditaria la cual afecta los pulgares​ Esta condición afecta aproximadamente al 2-3 % de la población, la causa de esta condición es una mutación en el gen HOXD13, en el cromosoma 2q31.1, es un tipo de braquidactilia. ​ Brachydactyly type D, also known as short thumb or stub thumb and inaccurately referred to as clubbed thumb, is a condition clinically recognised by a thumb being relatively short and round with an accompanying wider nail bed. The distal phalanx of affected thumbs is approximately two-thirds the length of full-length thumbs. It is the most common type of brachydactyly, or shortness of digits, affecting approximately 2–3% of the population, and is associated with the HOXD13 gene, located on chromosome 2q31.1
foaf:name
Brachydactyly type D
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Brachydactyly type D
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n6:X-ray_of_a_normal_thumb_next_to_a_thumb_with_Brachydactyly_type_D.jpg n6:Brachydaktylie_Typ_D_einseitig.jpg
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dbc:Fingers
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dbpedia-fa:پخ‌انگشتی n14:4i4Bk wikidata:Q5136452 dbpedia-sr:Брахидактилија_тип_Д dbpedia-de:Brachydaktylie_Typ_D dbpedia-es:Braquidactilia_tipo_D dbpedia-no:Brachydaktyli_type_D
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n6:Brachydaktylie_Typ_D_einseitig.jpg?width=300
dbp:caption
X-ray of a normal thumb and a thumb with brachydactyly type D showing distal phalange brachyphalangy of said thumb. Unilateral brachydactyly type D in a 15-year-old female
dbp:field
dbr:Medical_genetics
dbp:image
File:X-ray of a normal thumb next to a thumb with Brachydactyly type D.jpg
dbp:synonyms
Clubbed thumb, club thumb, short thumb, potter's thumb, royal thumb, murderer's thumb, toe thumb, hammer thumb, stubbed thumb, stub thumb
dbo:abstract
Die Brachydaktylie Typ D (auch Brachymegalodactylismus) ist die häufigste Form der Brachydaktylie, und bezeichnet eine angeborene Fehlbildung des Skelettes, die klinisch mit kurzem, dickem Daumen und breitem Nagelbett anschaulich ist. Der Grosszeh kann gleichfalls verkürzt und verdickt sein. Das Endglied (distale Phalanx) betroffener Daumen hat gewöhnlicherweise zwischen 50 und 66 Prozent der Länge nichtbetroffener Daumen. Die Erstbeschreibung dieses Types stammt aus dem Jahre 1928 durch O. Thomsen. La braquidactilia tipo D, también llamado pulgar corto o pulgar gordo, o más formalmente, braquimegalodactilia, es una malformación congénita hereditaria la cual afecta los pulgares​ Esta condición afecta aproximadamente al 2-3 % de la población, la causa de esta condición es una mutación en el gen HOXD13, en el cromosoma 2q31.1, es un tipo de braquidactilia. ​ Brachydactyly type D, also known as short thumb or stub thumb and inaccurately referred to as clubbed thumb, is a condition clinically recognised by a thumb being relatively short and round with an accompanying wider nail bed. The distal phalanx of affected thumbs is approximately two-thirds the length of full-length thumbs. It is the most common type of brachydactyly, or shortness of digits, affecting approximately 2–3% of the population, and is associated with the HOXD13 gene, located on chromosome 2q31.1
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