Matches in DBpedia 2015-10 for { <http://dbpedia.org/resource/Keutel_syndrome> ?p ?o }
- Keutel_syndrome abstract "Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss, short distal phalanges (tips) of the fingers and mild mental retardation. Individuals with KS often present with peripheral pulmonary stenosis, brachytelephalangism, sloping forehead, midface hypoplasia, and receding chin. It is associated with abnormalities in the gene coding for matrix gla protein (MGP). Being an autosomal recessive disorder, it may be inherited from two unaffected, abnormal MGP-carrying parents. Thus, people who inherit two affected MGP genes will likely inherit KS.It was first identified in 1972 as a novel rare genetic disorder sharing similar symptoms with chondrodysplasia punctata. Multiple forms of chondrodysplasia punctata share symptoms consistent with KS including abnormal cartilage calcification, forceful respiration, brachytelephalangism, hypotonia, psychomotor delay, and conductive deafness, yet peripheral pulmonary stenosis remains unique to KS.No chromosomal abnormalities are reported in affected individuals, suggesting that familial consanguinity relates to the autosomal recessive mode of inheritance. Also, despite largely abnormal calcification of regions including the larynx, tracheobronchial tree, nose, pinna (anatomy), and epiglottis, patients exhibit normal serum calcium and phosphate levels.".
- Keutel_syndrome omim "245150".
- Keutel_syndrome thumbnail Autorecessive.svg?width=300.
- Keutel_syndrome wikiPageID "15912221".
- Keutel_syndrome wikiPageLength "12826".
- Keutel_syndrome wikiPageOutDegree "82".
- Keutel_syndrome wikiPageRevisionID "678938496".
- Keutel_syndrome wikiPageWikiLink Alae_nasi.
- Keutel_syndrome wikiPageWikiLink Angiography.
- Keutel_syndrome wikiPageWikiLink Anticholinergic.
- Keutel_syndrome wikiPageWikiLink Anticholinergics.
- Keutel_syndrome wikiPageWikiLink Anticoagulant.
- Keutel_syndrome wikiPageWikiLink Aortic_valve.
- Keutel_syndrome wikiPageWikiLink Atherosclerosis.
- Keutel_syndrome wikiPageWikiLink Auricle_(anatomy).
- Keutel_syndrome wikiPageWikiLink Autosomal.
- Keutel_syndrome wikiPageWikiLink Autosome.
- Keutel_syndrome wikiPageWikiLink Bone_morphogenetic_protein_2.
- Keutel_syndrome wikiPageWikiLink Bronchodilator.
- Keutel_syndrome wikiPageWikiLink CT_scan.
- Keutel_syndrome wikiPageWikiLink Calcification.
- Keutel_syndrome wikiPageWikiLink Cartilage.
- Keutel_syndrome wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Keutel_syndrome wikiPageWikiLink Category:Congenital_disorders.
- Keutel_syndrome wikiPageWikiLink Category:Rare_diseases.
- Keutel_syndrome wikiPageWikiLink Category:Syndromes.
- Keutel_syndrome wikiPageWikiLink Chin.
- Keutel_syndrome wikiPageWikiLink Chondrocyte.
- Keutel_syndrome wikiPageWikiLink Chondrodysplasia_punctata.
- Keutel_syndrome wikiPageWikiLink Computed_tomography.
- Keutel_syndrome wikiPageWikiLink Consanguinity.
- Keutel_syndrome wikiPageWikiLink Coronary_artery.
- Keutel_syndrome wikiPageWikiLink Coronary_circulation.
- Keutel_syndrome wikiPageWikiLink Coumarin.
- Keutel_syndrome wikiPageWikiLink Deaf.
- Keutel_syndrome wikiPageWikiLink Diabetes.
- Keutel_syndrome wikiPageWikiLink Diabetes_mellitus.
- Keutel_syndrome wikiPageWikiLink Diffuse.
- Keutel_syndrome wikiPageWikiLink Diffusion.
- Keutel_syndrome wikiPageWikiLink Distal_phalanges.
- Keutel_syndrome wikiPageWikiLink Dominance_(genetics).
- Keutel_syndrome wikiPageWikiLink Dysmorphic.
- Keutel_syndrome wikiPageWikiLink Dysmorphic_feature.
- Keutel_syndrome wikiPageWikiLink Dyspnea.
- Keutel_syndrome wikiPageWikiLink Echocardiogram.
- Keutel_syndrome wikiPageWikiLink Echocardiography.
- Keutel_syndrome wikiPageWikiLink Electroencephalography.
- Keutel_syndrome wikiPageWikiLink Endochondral.
- Keutel_syndrome wikiPageWikiLink Endochondral_ossification.
- Keutel_syndrome wikiPageWikiLink Epiglottis.
- Keutel_syndrome wikiPageWikiLink Exon.
- Keutel_syndrome wikiPageWikiLink Extracellular_matrix.
- Keutel_syndrome wikiPageWikiLink Face.
- Keutel_syndrome wikiPageWikiLink File:Autorecessive.svg.
- Keutel_syndrome wikiPageWikiLink Forehead.
- Keutel_syndrome wikiPageWikiLink Gene.
- Keutel_syndrome wikiPageWikiLink Hearing_loss.
- Keutel_syndrome wikiPageWikiLink Hypertension.
- Keutel_syndrome wikiPageWikiLink Hypoplasia.
- Keutel_syndrome wikiPageWikiLink Hypotonia.
- Keutel_syndrome wikiPageWikiLink Intellectual_disability.
- Keutel_syndrome wikiPageWikiLink Intron.
- Keutel_syndrome wikiPageWikiLink Kidney.
- Keutel_syndrome wikiPageWikiLink Labored_breathing.
- Keutel_syndrome wikiPageWikiLink Larynx.
- Keutel_syndrome wikiPageWikiLink Loss-of-function.
- Keutel_syndrome wikiPageWikiLink Lung.
- Keutel_syndrome wikiPageWikiLink Matrix_gla_protein.
- Keutel_syndrome wikiPageWikiLink Mental_retardation.
- Keutel_syndrome wikiPageWikiLink Mutation.
- Keutel_syndrome wikiPageWikiLink Nasal_bridge.
- Keutel_syndrome wikiPageWikiLink Nostril.
- Keutel_syndrome wikiPageWikiLink Ossification.
- Keutel_syndrome wikiPageWikiLink Otitis_media.
- Keutel_syndrome wikiPageWikiLink Perichondral.
- Keutel_syndrome wikiPageWikiLink Phalanx_bone.
- Keutel_syndrome wikiPageWikiLink Phenotype.
- Keutel_syndrome wikiPageWikiLink Phenotypically.
- Keutel_syndrome wikiPageWikiLink Pinna_(anatomy).
- Keutel_syndrome wikiPageWikiLink Pulmonary.
- Keutel_syndrome wikiPageWikiLink Pulmonary_stenosis.
- Keutel_syndrome wikiPageWikiLink Pulmonic_stenosis.
- Keutel_syndrome wikiPageWikiLink Recessive_gene.
- Keutel_syndrome wikiPageWikiLink Renal.
- Keutel_syndrome wikiPageWikiLink Respiratory_tract.
- Keutel_syndrome wikiPageWikiLink Sinusitis.
- Keutel_syndrome wikiPageWikiLink Trachea.
- Keutel_syndrome wikiPageWikiLink Tracheobronchial_tree.
- Keutel_syndrome wikiPageWikiLink Vascular_smooth_muscle.
- Keutel_syndrome wikiPageWikiLink Ventricular_hypertrophy.
- Keutel_syndrome wikiPageWikiLink Vertebrate_trachea.
- Keutel_syndrome wikiPageWikiLink Vitamin_K.
- Keutel_syndrome wikiPageWikiLink Wikt:otic.
- Keutel_syndrome wikiPageWikiLink X-radiation.
- Keutel_syndrome wikiPageWikiLink X-ray.
- Keutel_syndrome wikiPageWikiLinkText "Keutel syndrome".
- Keutel_syndrome wikiPageWikiLinkText "Keutel".
- Keutel_syndrome diseasesdb "33698".
- Keutel_syndrome hasPhotoCollection Keutel_syndrome.
- Keutel_syndrome name "Keutel syndrome".