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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.".
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• Spondyloepimetaphyseal_dysplasia,_Strudwick_type wikiPageExternalLink ghr.nlm.nih.gov.
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• Spondyloepimetaphyseal_dysplasia,_Strudwick_type name "Spondyloepimetaphyseal dysplasia, Strudwick type".
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type omim "184250".
• 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 type Abnormality114501726.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type Abstraction100002137.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type Anomaly114505821.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type Attribute100024264.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type AutosomalDominantDisease114162025.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type AutosomalDominantDisorders.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type BirthDefect114465048.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type Condition113920835.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type CongenitalDisorders.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type Defect114464005.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type Disease114070360.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type Disorder114052403.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type GeneticDisease114151139.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type IllHealth114052046.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type Illness114061805.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type Imperfection114462666.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type PathologicalState114051917.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type PhysicalCondition114034177.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type SkeletalDisorders.
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• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type Disease.
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type type Situation.
• 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 label "Spondylometaepifysaire displasie, Type Strudwick".
• Spondyloepimetaphyseal_dysplasia,_Strudwick_type sameAs Spondylometaepifysaire_displasie,_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 sameAs Spondyloepimetaphyseal_dysplasia,_Strudwick_type.
• 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".