About: Boomerang dysplasia

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

Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang. Death usually occurs in early infancy due to complications arising from overwhelming systemic bone malformations. Osteochondrodysplasias are skeletal disorders that cause malformations of both bone and cartilage.

Property	Value
dbo:abstract	Die Bumerang-Dysplasie ist eine sehr seltene angeborene Erkrankung mit schwerwiegender Knochenbeteiligung. Sie gehört zu den letal verlaufenden Skelettdysplasien. Die Bezeichnung bezieht sich auf die ungewöhnliche Deformierung hauptsächlich der Oberschenkelknochen und wurde 1983 erstmals in einem Bericht des italienischen Kinderradiologen A. Tenconi verwendet. (de) Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang. Death usually occurs in early infancy due to complications arising from overwhelming systemic bone malformations. Osteochondrodysplasias are skeletal disorders that cause malformations of both bone and cartilage. (en)
dbo:icd10	Q68.5
dbo:icd9	754.44
dbo:omim	112310 (xsd:integer)
dbo:orpha	1263
dbo:thumbnail	wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg?width=300
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dbo:wikiPageLength	8144 (xsd:nonNegativeInteger)
dbo:wikiPageRevisionID	1046794221 (xsd:integer)
dbo:wikiPageWikiLink	dbr:FLNB dbr:Mutation dbr:Bone dbr:Boomerang dbr:Cytoplasm dbr:Cytoskeleton dbr:Ulna dbr:Infant dbr:Inheritance dbr:Limb_(anatomy) dbr:Pelvis dbr:Brachydactyly dbr:Osteochondrodysplasia dbr:Chondrocyte dbr:Actin dbr:Tibia dbr:Dwarfism dbr:Femur dbr:Fibula dbr:Ossification dbr:Cell_membrane dbr:Vertebral_column dbr:Protein dbr:Radius_(bone) dbc:Congenital_disorders dbc:Rare_diseases dbr:Atelosteogenesis_type_I dbr:Arm dbc:Autosomal_dominant_disorders dbr:Larsen_syndrome dbr:Autosome dbr:Human_leg dbr:Dominance_relationship dbr:Ilium_(bone) dbr:Cartilage dbr:Recessive dbr:Long_bone dbr:Congenital dbr:Malformation dbr:X-linked dbr:Wikt:micromelia dbr:Wikt:sporadic
dbp:caption	Boomerang dysplasia has an autosomal dominant pattern of inheritance. (en)
dbp:icd	754.440000 (xsd:double) (en) Q68.5 (en)
dbp:omim	112310 (xsd:integer)
dbp:orphanet	1263 (xsd:integer)
dbp:snomedCt	254054000 (xsd:integer)
dbp:synonyms	Dwarfism with short, bowed, rigid limbs and characteristic facies (en)
dbp:wikiPageUsesTemplate	dbt:Cytoskeletal_defects dbt:Citation_needed dbt:Cn dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Osteochondrodysplasia
dbp:wordnet_type	http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1
dcterms:subject	dbc:Congenital_disorders dbc:Rare_diseases dbc:Autosomal_dominant_disorders
gold:hypernym	dbr:Form
rdf:type	owl:Thing wikidata:Q12136 yago:WikicatAutosomalDominantDisorders yago:WikicatCongenitalDisorders yago:Abnormality114501726 yago:Abstraction100002137 yago:Anomaly114505821 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:BirthDefect114465048 yago:Condition113920835 yago:Defect114464005 yago:Disease114070360 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:PathologicalState114051917 yago:PhysicalCondition114034177 dbo:Disease yago:State100024720 umbel-rc:AilmentCondition
rdfs:comment	Die Bumerang-Dysplasie ist eine sehr seltene angeborene Erkrankung mit schwerwiegender Knochenbeteiligung. Sie gehört zu den letal verlaufenden Skelettdysplasien. Die Bezeichnung bezieht sich auf die ungewöhnliche Deformierung hauptsächlich der Oberschenkelknochen und wurde 1983 erstmals in einem Bericht des italienischen Kinderradiologen A. Tenconi verwendet. (de) Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang. Death usually occurs in early infancy due to complications arising from overwhelming systemic bone malformations. Osteochondrodysplasias are skeletal disorders that cause malformations of both bone and cartilage. (en)
rdfs:label	Bumerang-Dysplasie (de) Boomerang dysplasia (en)
owl:sameAs	freebase:Boomerang dysplasia yago-res:Boomerang dysplasia wikidata:Boomerang dysplasia dbpedia-de:Boomerang dysplasia https://global.dbpedia.org/id/4aQvv
prov:wasDerivedFrom	wikipedia-en:Boomerang_dysplasia?oldid=1046794221&ns=0
foaf:depiction	wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg
foaf:isPrimaryTopicOf	wikipedia-en:Boomerang_dysplasia
is dbo:wikiPageWikiLink of	dbr:FLNB dbr:List_of_diseases_(B) dbr:Cecil_Hackett dbr:List_of_OMIM_disorder_codes dbr:Atelosteogenesis_type_I dbr:Larsen_syndrome dbr:Fibrochondrogenesis
is foaf:primaryTopic of	wikipedia-en:Boomerang_dysplasia

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