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Statements

Subject Item
dbr:List_of_diseases_(F)
dbo:wikiPageWikiLink
dbr:Familial_opposable_triphalangeal_thumbs_duplication
Subject Item
dbr:Familial_opposable_triphalangeal_thumbs_duplication
rdf:type
wikidata:Q12136 dbo:Disease owl:Thing
rdfs:label
Dreigliedriger Daumen-Polysyndaktylie-Syndrom Familial opposable triphalangeal thumbs duplication
rdfs:comment
Das Dreigliedriger Daumen-Polysyndaktylie-Syndrom oder Präaxiale Polydaktylie Typ 2 ist ein angeborenes Fehlbildungssyndrom von Hand und Fuß mit einem fingerartig dreigliedrigem Daumen (Triphalangealer Daumen) und fakultativ zusätzlicher Doppelung von Daumenelementen. Es besteht eine Assoziation mit dem Holt-Oram-Syndrom und der Fanconi-Anämie. Familial opposable triphalangeal thumb duplication is a limb malformation syndrome and a type of pre-axial polydactyly, characterized by having duplicated opposable triphalangeal thumbs. This condition can be a symptom of other genetic disorders, such as Holt–Oram syndrome and Fanconi anemia. This trait is autosomal dominant and often runs in families (hence "familial"). Sometimes big toe duplication, post-axial polydactyly, and syndactyly of the hand and feet can occur alongside this malformation Approximately 20 families with the condition have been described in medical literature.
dbp:name
Familial opposable triphalangeal thumb duplication
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dcterms:subject
dbc:Rare_genetic_syndromes
dbo:wikiPageID
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dbo:wikiPageRevisionID
1115519210
dbo:wikiPageWikiLink
dbr:Heart-hand_syndromes dbr:Metacarpal_synostosis dbr:Whole_genome_sequencing dbc:Rare_genetic_syndromes dbr:LMBR1 dbr:OMIM dbr:Fanconi_anemia dbr:Physical_examination dbr:Holt–Oram_syndrome dbr:Genetic_mutation dbr:Hallux dbr:Germans dbr:Brachydactyly dbr:Medical_genetics dbr:Radiography dbr:Polydactyly dbr:Osteotomy
owl:sameAs
dbpedia-de:Dreigliedriger_Daumen-Polysyndaktylie-Syndrom n15:kJFW wikidata:Q18019453
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dbo:thumbnail
n10:Main_droite_de_Lauranne.jpg?width=300
dbp:onset
Birth
dbp:causes
dbr:Genetic_mutation
dbp:duration
Life-long
dbp:frequency
Rare, less than 1 in 25,000 births.
dbo:abstract
Das Dreigliedriger Daumen-Polysyndaktylie-Syndrom oder Präaxiale Polydaktylie Typ 2 ist ein angeborenes Fehlbildungssyndrom von Hand und Fuß mit einem fingerartig dreigliedrigem Daumen (Triphalangealer Daumen) und fakultativ zusätzlicher Doppelung von Daumenelementen. Es besteht eine Assoziation mit dem Holt-Oram-Syndrom und der Fanconi-Anämie. Familial opposable triphalangeal thumb duplication is a limb malformation syndrome and a type of pre-axial polydactyly, characterized by having duplicated opposable triphalangeal thumbs. This condition can be a symptom of other genetic disorders, such as Holt–Oram syndrome and Fanconi anemia. This trait is autosomal dominant and often runs in families (hence "familial"). Sometimes big toe duplication, post-axial polydactyly, and syndactyly of the hand and feet can occur alongside this malformation Approximately 20 families with the condition have been described in medical literature.
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wikipedia-en:Familial_opposable_triphalangeal_thumbs_duplication?oldid=1115519210&ns=0
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12905
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