| 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 |
| dbo:wikiPageID |
16892227 (xsd:integer) |
| 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 |
