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Statements

Subject Item
dbr:Collagen,_type_II,_alpha_1
dbo:wikiPageWikiLink
dbr:Spondyloperipheral_dysplasia
Subject Item
dbr:Chromosome_12
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dbr:Spondyloperipheral_dysplasia
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dbr:List_of_OMIM_disorder_codes
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dbr:Spondyloperipheral_dysplasia
Subject Item
dbr:Collagenopathy,_types_II_and_XI
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dbr:Spondyloperipheral_dysplasia
Subject Item
dbr:Spondyloperipheral_dysplasia
rdf:type
yago:Attribute100024264 yago:PhysicalCondition114034177 yago:Disorder114052403 yago:WikicatAutosomalDominantDisorders yago:Abnormality114501726 yago:WikicatSkeletalDisorders yago:Abstraction100002137 dbo:Disease owl:Thing yago:Defect114464005 wikidata:Q12136 yago:IllHealth114052046 yago:Imperfection114462666 yago:AutosomalDominantDisease114162025 yago:GeneticDisease114151139 yago:WikicatCongenitalDisorders yago:PathologicalState114051917 yago:Anomaly114505821 yago:Illness114061805 yago:State100024720 yago:BirthDefect114465048 yago:Condition113920835 yago:Disease114070360
rdfs:label
Spondyloperipheral dysplasia
rdfs:comment
Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth. The condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly). Some affected individuals also have other skeletal abnormalities, short stature, nearsightedness (myopia), hearing loss, and mental retardation. Spondyloperipheral dysplasia is a subtype of collagenopathy, types II and XI.
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Spondyloperipheral dysplasia
dbp:name
Spondyloperipheral dysplasia
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dbp:caption
Spondyloperipheral dysplasia has an autosomal dominant pattern of inheritance.
dbp:synonyms
Spondyloperipheral dysplasia-short ulna syndrome
dbo:abstract
Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth. The condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly). Some affected individuals also have other skeletal abnormalities, short stature, nearsightedness (myopia), hearing loss, and mental retardation. Spondyloperipheral dysplasia is a subtype of collagenopathy, types II and XI.
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wikipedia-en:Spondyloperipheral_dysplasia
Subject Item
wikipedia-en:Spondyloperipheral_dysplasia
foaf:primaryTopic
dbr:Spondyloperipheral_dysplasia