Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Congenital_distal_spinal_muscular_atrophy> ?p ?o }
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- Congenital_distal_spinal_muscular_atrophy abstract "Congenital distal spinal muscular atrophy (congenital dSMA) is a hereditary genetic condition characterized by muscle wasting (atrophy), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle. Affected individuals often have shorter lower limbs relative to the trunk and upper limbs. The condition is a result of a loss of anterior horn cells localized to lumbar and cervical regions of the spinal cord early in infancy, which in turn is caused by a mutation of the TRPV4 gene. The disorder is inherited in an autosomal dominant manner. Arm muscle and function, as well as cardiac and respiratory functions are typically well preserved.".
- Congenital_distal_spinal_muscular_atrophy omim "600175".
- Congenital_distal_spinal_muscular_atrophy thumbnail Stuve-wiedemann3.JPG?width=300.
- Congenital_distal_spinal_muscular_atrophy wikiPageExternalLink spinal-muscular-atrophy-distal-congenital-nonprogressive.
- Congenital_distal_spinal_muscular_atrophy wikiPageID "36232268".
- Congenital_distal_spinal_muscular_atrophy wikiPageLength "8252".
- Congenital_distal_spinal_muscular_atrophy wikiPageOutDegree "54".
- Congenital_distal_spinal_muscular_atrophy wikiPageRevisionID "659885667".
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Alpha_helix.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Amino_acid.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Anatomical_terms_of_location.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Ankyrin_repeat.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Anterior_grey_column.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Arginine.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Arthrogryposis.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Atrophy.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink C-terminus.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Category:Autosomal_dominant_disorders.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Category:Neurogenetic_disorders.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Category:Systemic_atrophies_primarily_affecting_the_central_nervous_system.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Cell_membrane.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Chromosome_12_(human).
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Club_foot.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Contracture.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Creatine_kinase.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Cysteine.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Denervation.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Dominance_(genetics).
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Electromyography.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Endothelium.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Fibrillation.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Genetic_heterogeneity.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Heredity.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Histidine.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Lumbar.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Magnetic_resonance_imaging.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Mechanosensation.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Missense_mutation.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Muscle_biopsy.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Mutation.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink N-terminus.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Neck.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Nerve.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Nerve_conduction_study.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Occupational_therapy.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Orthotics.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Osmosensory.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Pes_cavus.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Phenotype.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Physical_therapy.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Platyspondyly.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Pulmonary_alveolus.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Pulmonary_function_testing.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Scoliosis.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Spinal_muscular_atrophies.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink TRPV4.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Tryptophan.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink Vocal_cord_paresis.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink X-ray.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink File:Charcot-marie-tooth_foot.jpg.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink File:Denervation_atrophy_-_intermed_mag.jpg.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLink File:Stuve-wiedemann3.JPG.
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLinkText "Congenital distal spinal muscular atrophy".
- Congenital_distal_spinal_muscular_atrophy wikiPageWikiLinkText "congenital distal spinal muscular atrophy".
- Congenital_distal_spinal_muscular_atrophy wikiPageUsesTemplate Template:About.
- Congenital_distal_spinal_muscular_atrophy wikiPageUsesTemplate Template:Infobox_disease.
- Congenital_distal_spinal_muscular_atrophy wikiPageUsesTemplate Template:Mcn.
- Congenital_distal_spinal_muscular_atrophy wikiPageUsesTemplate Template:Reflist.
- Congenital_distal_spinal_muscular_atrophy wikiPageUsesTemplate Template:Unreferenced_section.
- Congenital_distal_spinal_muscular_atrophy subject Category:Autosomal_dominant_disorders.
- Congenital_distal_spinal_muscular_atrophy subject Category:Neurogenetic_disorders.
- Congenital_distal_spinal_muscular_atrophy subject Category:Systemic_atrophies_primarily_affecting_the_central_nervous_system.
- Congenital_distal_spinal_muscular_atrophy hypernym Condition.
- Congenital_distal_spinal_muscular_atrophy type Disease.
- Congenital_distal_spinal_muscular_atrophy type Disorder.
- Congenital_distal_spinal_muscular_atrophy type Thing.
- Congenital_distal_spinal_muscular_atrophy type Q12136.
- Congenital_distal_spinal_muscular_atrophy comment "Congenital distal spinal muscular atrophy (congenital dSMA) is a hereditary genetic condition characterized by muscle wasting (atrophy), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle. Affected individuals often have shorter lower limbs relative to the trunk and upper limbs.".
- Congenital_distal_spinal_muscular_atrophy label "Congenital distal spinal muscular atrophy".
- Congenital_distal_spinal_muscular_atrophy sameAs Q5160420.
- Congenital_distal_spinal_muscular_atrophy sameAs m.0k2fmcv.
- Congenital_distal_spinal_muscular_atrophy sameAs Q5160420.
- Congenital_distal_spinal_muscular_atrophy wasDerivedFrom Congenital_distal_spinal_muscular_atrophy?oldid=659885667.
- Congenital_distal_spinal_muscular_atrophy depiction Stuve-wiedemann3.JPG.
- Congenital_distal_spinal_muscular_atrophy isPrimaryTopicOf Congenital_distal_spinal_muscular_atrophy.