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Coloboma of macula-brachydactyly type B sy … Coloboma of macula-brachydactyly type B syndrome, also known as Sorbsy syndrome is a rare genetic disorder which is characterized by bilateral macular coloboma, nystagmus of the horizontal pendular type, visual impairment, and brachydactyly type B. Additional findings include congenital anonychia, broad/duplication of the thumbs and big toes, syndactyly and camptodactyly. It is inherited in an autosomal dominant manner. It has been described in 9 members of a 4-generation British family. members of a 4-generation British family.
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| http://dbpedia.org/ontology/alias
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Sorsby syndrome
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2933
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http://dbpedia.org/resource/Category:Genetic_diseases_and_disorders +
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, http://dbpedia.org/resource/Nystagmus +
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| http://dbpedia.org/property/caption
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Autosomal dominant pattern
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| http://dbpedia.org/property/deaths
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-
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| http://dbpedia.org/property/duration
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Lifelong
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rare
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| http://dbpedia.org/property/onset
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Birth
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None
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http://dbpedia.org/resource/Ophthalmology +
, http://dbpedia.org/resource/Medical_genetics +
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| http://dbpedia.org/property/symptoms
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Mainly coloboma with type B brachydactyly
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| http://dbpedia.org/property/synonyms
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Sorsby syndrome
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| rdfs:comment |
Coloboma of macula-brachydactyly type B sy … Coloboma of macula-brachydactyly type B syndrome, also known as Sorbsy syndrome is a rare genetic disorder which is characterized by bilateral macular coloboma, nystagmus of the horizontal pendular type, visual impairment, and brachydactyly type B. Additional findings include congenital anonychia, broad/duplication of the thumbs and big toes, syndactyly and camptodactyly. It is inherited in an autosomal dominant manner. It has been described in 9 members of a 4-generation British family. members of a 4-generation British family.
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| rdfs:label |
Coloboma of macula-brachydactyly type B syndrome
|
