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- Spondyloepimetaphyseal_dysplasia,_Strudwick_type abstract "Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine (spondylo-) and two regions near the ends of bones (epiphyses and metaphyses). This type was named after the first reported patient with the disorder. Spondyloepimetaphyseal dysplasia, Strudwick type is a subtype of collagenopathy, types II and XI.The signs and symptoms of this condition at birth are very similar to those of spondyloepiphyseal dysplasia congenita, a related skeletal disorder. Beginning in childhood, the two conditions can be distinguished in X-ray images by changes in areas near the ends of bones (metaphyses). These changes are characteristic of spondyloepimetaphyseal dysplasia, Strudwick type.People with this condition are short-statured from birth, with a very short trunk and shortened limbs. Their hands and feet, however, are usually average-sized. Curvature of the spine (scoliosis and lumbar lordosis) may be severe and can cause problems with breathing. Changes in the spinal bones (vertebrae) in the neck may also increase the risk of spinal cord damage. Other skeletal signs include flattened vertebrae (platyspondyly), severe protrusion of the breastbone (pectus carinatum), a hip joint deformity in which the upper leg bones turn inward (coxa vara), and a foot deformity known as clubfoot.Affected individuals have mild and variable changes in their facial features. The cheekbones close to the nose may appear flattened. Some infants are born with an opening in the roof of the mouth, which is called a cleft palate. Severe nearsightedness (high myopia) and detachment of the retina (the part of the eye that detects light and color) are also common. This condition is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. The protein made by this gene forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). Type II collagen is essential for the normal development of bones and other connective tissues. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition.This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.".
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type omim "184250".
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type thumbnail Autosomal_dominant_-_en.svg?width=300.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageExternalLink ghr.nlm.nih.gov.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageID "2574024".
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageLength "3494".
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageOutDegree "31".
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageRevisionID "549995085".
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Autosomal_dominant.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Bone.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink COL2A1.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Cartilage.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Category:Autosomal_dominant_disorders.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Category:Congenital_disorders.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Category:Skeletal_disorders.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Cheekbone.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Cleft_lip_and_palate.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Cleft_palate.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Club_foot.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Clubfoot.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Collagen.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Collagen,_type_II,_alpha_1.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Collagenopathy,_types_II_and_XI.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Connective_tissue.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Coxa_vara.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Dominance_(genetics).
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Dwarfism.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Epiphyses.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Epiphysis.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Hip.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Metaphyses.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Metaphysis.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Myopia.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Pectus_carinatum.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Platyspondyly.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Retina.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Scoliosis.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Spinal_cord.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Spondyloepiphyseal_dysplasia_congenita.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Vertebra.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Vertebrae.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Vertebral_column.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Visual_perception.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Vitreous_humour.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink X-ray.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink Zygomatic_bone.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLink File:Autosomal_dominant_-_en.svg.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLinkText "Spondyloepimetaphyseal dysplasia, Strudwick type".
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLinkText "spondyloepi(meta)physeal dysplasia".
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageWikiLinkText "spondyloepimetaphyseal dysplasia, Strudwick type".
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type hasPhotoCollection Spondyloepimetaphyseal_dysplasia,_Strudwick_type.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type name "Spondyloepimetaphyseal dysplasia, Strudwick type".
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type omim "184250".
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageUsesTemplate Template:Citations.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageUsesTemplate Template:Infobox_disease.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageUsesTemplate Template:Scleroprotein_disease.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type subject Category:Autosomal_dominant_disorders.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type subject Category:Congenital_disorders.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type subject Category:Skeletal_disorders.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type hypernym Disorder.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type type Disease.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type type Thing.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type type Q12136.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type comment "Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. The name of the condition indicates that it affects the bones of the spine (spondylo-) and two regions near the ends of bones (epiphyses and metaphyses). This type was named after the first reported patient with the disorder.".
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type label "Spondyloepimetaphyseal dysplasia, Strudwick type".
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type sameAs Displasia_espondiloepimetafisaria_tipo_Strudwick.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type sameAs Spondylometa-epifysaire_dysplasie,_type_Strudwick.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type sameAs m.0g9z1kv.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type sameAs Q2123641.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type sameAs Q2123641.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type wasDerivedFrom Spondyloepimetaphyseal_dysplasia,_Strudwick_type?oldid=549995085.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type depiction Autosomal_dominant_-_en.svg.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type isPrimaryTopicOf Spondyloepimetaphyseal_dysplasia,_Strudwick_type.
- Spondyloepimetaphyseal_dysplasia,_Strudwick_type name "Spondyloepimetaphyseal dysplasia, Strudwick type".