Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Parastremmatic_dwarfism> ?p ?o }
Showing triples 1 to 68 of
68
with 100 triples per page.
- Parastremmatic_dwarfism abstract "Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type of scoliosis that affects the upper back), a distortion and twisting of the limbs, contractures of the large joints, malformations of the vertebrae and pelvis, and incontinence. The disease was first reported in 1970 by Leonard Langer and associates; they used the term parastremmatic from the Greek parastremma, or distorted limbs, to describe it. On X-rays, the disease is distinguished by a \"flocky\" or lace-like appearance to the bones. The disease is congenital, which means it is apparent at birth. It is caused by a mutation in the TRPV4 gene, located on chromosome 12 in humans. The disease is inherited in an autosomal dominant manner.".
- Parastremmatic_dwarfism omim "168400".
- Parastremmatic_dwarfism thumbnail Autosomal_dominant_-_en.svg?width=300.
- Parastremmatic_dwarfism wikiPageID "36717847".
- Parastremmatic_dwarfism wikiPageLength "5716".
- Parastremmatic_dwarfism wikiPageOutDegree "38".
- Parastremmatic_dwarfism wikiPageRevisionID "676380374".
- Parastremmatic_dwarfism wikiPageWikiLink Amino_acid.
- Parastremmatic_dwarfism wikiPageWikiLink Arginine.
- Parastremmatic_dwarfism wikiPageWikiLink Autosome.
- Parastremmatic_dwarfism wikiPageWikiLink Category:Autosomal_dominant_disorders.
- Parastremmatic_dwarfism wikiPageWikiLink Category:Congenital_disorders.
- Parastremmatic_dwarfism wikiPageWikiLink Category:Growth_disorders.
- Parastremmatic_dwarfism wikiPageWikiLink Category:Human_height.
- Parastremmatic_dwarfism wikiPageWikiLink Category:Rare_diseases.
- Parastremmatic_dwarfism wikiPageWikiLink Chromosome.
- Parastremmatic_dwarfism wikiPageWikiLink Chromosome_12_(human).
- Parastremmatic_dwarfism wikiPageWikiLink Congenital_disorder.
- Parastremmatic_dwarfism wikiPageWikiLink Contracture.
- Parastremmatic_dwarfism wikiPageWikiLink Dominance_(genetics).
- Parastremmatic_dwarfism wikiPageWikiLink Dwarfism.
- Parastremmatic_dwarfism wikiPageWikiLink Exon.
- Parastremmatic_dwarfism wikiPageWikiLink Gene.
- Parastremmatic_dwarfism wikiPageWikiLink Genetic_code.
- Parastremmatic_dwarfism wikiPageWikiLink Histidine.
- Parastremmatic_dwarfism wikiPageWikiLink Kyphosis.
- Parastremmatic_dwarfism wikiPageWikiLink Locus_(genetics).
- Parastremmatic_dwarfism wikiPageWikiLink Mineralization_(biology).
- Parastremmatic_dwarfism wikiPageWikiLink Missense_mutation.
- Parastremmatic_dwarfism wikiPageWikiLink Mutation.
- Parastremmatic_dwarfism wikiPageWikiLink Osteochondrodysplasia.
- Parastremmatic_dwarfism wikiPageWikiLink Osteomalacia.
- Parastremmatic_dwarfism wikiPageWikiLink Pelvis.
- Parastremmatic_dwarfism wikiPageWikiLink Scoliosis.
- Parastremmatic_dwarfism wikiPageWikiLink Spondyloepimetaphyseal_dysplasia.
- Parastremmatic_dwarfism wikiPageWikiLink Spondylometaphyseal_dysplasia,_Kozlowski_type.
- Parastremmatic_dwarfism wikiPageWikiLink TRPV4.
- Parastremmatic_dwarfism wikiPageWikiLink Urinary_incontinence.
- Parastremmatic_dwarfism wikiPageWikiLink Vertebra.
- Parastremmatic_dwarfism wikiPageWikiLink X-ray.
- Parastremmatic_dwarfism wikiPageWikiLink File:Autosomal_dominant_-_en.svg.
- Parastremmatic_dwarfism wikiPageWikiLink File:Chromosome_12.svg.
- Parastremmatic_dwarfism wikiPageWikiLinkText "Parastremmatic dwarfism".
- Parastremmatic_dwarfism diseasesdb "33541".
- Parastremmatic_dwarfism name "Parastremmatic dwarfism".
- Parastremmatic_dwarfism omim "168400".
- Parastremmatic_dwarfism wikiPageUsesTemplate Template:Infobox_disease.
- Parastremmatic_dwarfism wikiPageUsesTemplate Template:Reflist.
- Parastremmatic_dwarfism subject Category:Autosomal_dominant_disorders.
- Parastremmatic_dwarfism subject Category:Congenital_disorders.
- Parastremmatic_dwarfism subject Category:Growth_disorders.
- Parastremmatic_dwarfism subject Category:Human_height.
- Parastremmatic_dwarfism subject Category:Rare_diseases.
- Parastremmatic_dwarfism hypernym Disease.
- Parastremmatic_dwarfism type Disease.
- Parastremmatic_dwarfism type Disorder.
- Parastremmatic_dwarfism type Pediatric.
- Parastremmatic_dwarfism type Thing.
- Parastremmatic_dwarfism type Q12136.
- Parastremmatic_dwarfism comment "Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type of scoliosis that affects the upper back), a distortion and twisting of the limbs, contractures of the large joints, malformations of the vertebrae and pelvis, and incontinence. The disease was first reported in 1970 by Leonard Langer and associates; they used the term parastremmatic from the Greek parastremma, or distorted limbs, to describe it.".
- Parastremmatic_dwarfism label "Parastremmatic dwarfism".
- Parastremmatic_dwarfism sameAs Q7136039.
- Parastremmatic_dwarfism sameAs m.0l8pjq_.
- Parastremmatic_dwarfism sameAs Q7136039.
- Parastremmatic_dwarfism wasDerivedFrom Parastremmatic_dwarfism?oldid=676380374.
- Parastremmatic_dwarfism depiction Autosomal_dominant_-_en.svg.
- Parastremmatic_dwarfism isPrimaryTopicOf Parastremmatic_dwarfism.
- Parastremmatic_dwarfism name "Parastremmatic dwarfism".