Nosology and classification of genetic skeletal disorders: 2010 revision

Nosology and classification of genetic skeletal disorders: 2010 revision

Source :

• American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2011-05.

Descripteurs français

• Pascal (Inist)
  • Classification, Génétique, Maladie héréditaire, Nosologie, Os, Ostéochondrodysplasie, Squelette.
• Wicri :
  • topic : Classification, Génétique.

English descriptors

• KwdEn :
  • Acanthosis nigricans, Achondrogenesis type, Acrofacial dysostosis, Activity subunit, Aggrecan, Aggrecan group, American journal, Anomaly, Asphyxiating thoracic dysplasia, Atelosteogenesis type, Autosomal, Autosomal recessive, Autosomal recessive form, Binding protein, Birth defects orig artic, Blomstrand dysplasia, Bone, Bone cysts, Bone density group, Brachydactyly, Brachydactyly type, Cartilaginous exostoses, Cation channel, Cdags syndrome, Child health, Chloride channel, Chondrodysplasia punctata, Chst3 type, Classification, Cleidocranial dysplasia, Collagen, Collagen group, Constitutional bone diseases, Constitutional diseases, Constitutional disorders, Craniofrontonasal syndrome, Craniometaphyseal dysplasia, Craniosynostosis, Defect, Density lipoprotein protein, Desbuquois dysplasia, Diagnostic process, Different genes, Differentiation factor, Disorder, Disorder inheritance, Disorganized development, Dysostoses, Dysostosis, Dysplasia, Dysplasia society, Dysplasia syndrome type, Dysplasia type, Dysplasias group, Eiken dysplasia, Epiphyseal, Feet syndrome, Fgfr2, Fgfr2 mutations, Fgfr3, Fibroblast, Fibroblast growth factor receptor, Filamin, Form type, Gdf5, Gdf5 growth, Gene, Genet, Genet part, Genetic basis, Genetic disease, Genetic heterogeneity, Genetic osteoarthropathies, Genetics, Geroderma osteodysplasticum, Gli3 family member, Greenberg dysplasia, Haar syndrome, Heavy chain, Hedgehog, Homeobox, Hospitalier universitaire vaudois, Howard hughes, Hypertrophic osteoarthropathy, Hypophosphatemic, Hypophosphatemic rickets, Imperfecta, Inclusion criteria, Individual disorders, Infantile, Infantile form, Infantile forms, Intermediate form, International nomenclature, Jansen dysplasia, Joint formation, Lausanne, Limb defects, Locus, Locus inheritance, Long bone, Lysosomal disorders, Malformation, Mandibuloacral dysplasia type, Matn3 matrilin, Matrix metalloproteinase, Meckel syndrome type, Medical center, Medical genetics part, Mental retardation, Mesomelic, Mesomelic dysplasia, Metaphyseal, Metaphyseal anadysplasia type, Metaphyseal dysplasia, Microcephalic osteodysplastic, Moderate form, Molecular bases, Molecular basis, Mucopolysaccharidosis, Mucopolysaccharidosis type, Multiple dislocations, Multiple epiphyseal dysplasia, Multiple malformation syndromes, Mutation, Mutation preaxial polydactyly type, Nervous system involvement, Nosologic entities, Nosology, Nosology group, Novel disorders, Orthopaedic surgery, Osteochondrodysplasia, Osteogenesis, Osteogenesis imperfecta, Osteolysis, Osteolysis group, Osteopetrosis, Other conditions, Otopalatodigital syndrome type, Overgrowth, Overgrowth syndromes, Parathyroid hormone, Parietal foramina, Pathway, Pfeiffer syndrome, Phenotype, Polydactyly, Preaxial polydactyly type, Primordial type, Progressive arthropathy, Protein brachydactyly type, Protein notes, Pthr1 receptor, Receptor, Recessive, Recessive form, Recessive larsen syndrome, Recessive type, Rickets, Semd, Several forms, Sillence, Skeletal biology, Skeletal component, Skeletal components, Skeletal development, Skeletal dysplasias, Skeletal involvement, Skeletal phenotypes, Skeleton, Sonic hedgehog, Sotos syndrome, Split malformation, Spondylocostal dysostosis type, Spondylometaphyseal dysplasia, Stickler syndrome type, Subunit, Sulfate transporter dtdst, Syndactyly, Syndactyly type, Syndrome, Syndrome type, Syndrome types, Synostoses syndrome type, Tgfbeta receptor subunit, Transcription factor, Transient receptor, Transporter, Trpv4, Trpv4 group, Type syndrome, Warman, Wrinkly skin syndrome.
• Teeft :
  • Acanthosis nigricans, Achondrogenesis type, Acrofacial dysostosis, Activity subunit, Aggrecan, Aggrecan group, American journal, Anomaly, Asphyxiating thoracic dysplasia, Atelosteogenesis type, Autosomal, Autosomal recessive, Autosomal recessive form, Binding protein, Birth defects orig artic, Blomstrand dysplasia, Bone cysts, Bone density group, Brachydactyly, Brachydactyly type, Cartilaginous exostoses, Cation channel, Cdags syndrome, Child health, Chloride channel, Chondrodysplasia punctata, Chst3 type, Cleidocranial dysplasia, Collagen, Collagen group, Constitutional bone diseases, Constitutional diseases, Constitutional disorders, Craniofrontonasal syndrome, Craniometaphyseal dysplasia, Craniosynostosis, Defect, Density lipoprotein protein, Desbuquois dysplasia, Diagnostic process, Different genes, Differentiation factor, Disorder, Disorder inheritance, Disorganized development, Dysostoses, Dysostosis, Dysplasia, Dysplasia society, Dysplasia syndrome type, Dysplasia type, Dysplasias group, Eiken dysplasia, Epiphyseal, Feet syndrome, Fgfr2, Fgfr2 mutations, Fgfr3, Fibroblast, Fibroblast growth factor receptor, Filamin, Form type, Gdf5, Gdf5 growth, Gene, Genet, Genet part, Genetic basis, Genetic heterogeneity, Genetic osteoarthropathies, Genetics, Geroderma osteodysplasticum, Gli3 family member, Greenberg dysplasia, Haar syndrome, Heavy chain, Hedgehog, Homeobox, Hospitalier universitaire vaudois, Howard hughes, Hypertrophic osteoarthropathy, Hypophosphatemic, Hypophosphatemic rickets, Imperfecta, Inclusion criteria, Individual disorders, Infantile, Infantile form, Infantile forms, Intermediate form, International nomenclature, Jansen dysplasia, Joint formation, Lausanne, Limb defects, Locus, Locus inheritance, Long bone, Lysosomal disorders, Malformation, Mandibuloacral dysplasia type, Matn3 matrilin, Matrix metalloproteinase, Meckel syndrome type, Medical center, Medical genetics part, Mental retardation, Mesomelic, Mesomelic dysplasia, Metaphyseal, Metaphyseal anadysplasia type, Metaphyseal dysplasia, Microcephalic osteodysplastic, Moderate form, Molecular bases, Molecular basis, Mucopolysaccharidosis, Mucopolysaccharidosis type, Multiple dislocations, Multiple epiphyseal dysplasia, Multiple malformation syndromes, Mutation, Mutation preaxial polydactyly type, Nervous system involvement, Nosologic entities, Nosology, Nosology group, Novel disorders, Orthopaedic surgery, Osteogenesis, Osteogenesis imperfecta, Osteolysis, Osteolysis group, Osteopetrosis, Other conditions, Otopalatodigital syndrome type, Overgrowth, Overgrowth syndromes, Parathyroid hormone, Parietal foramina, Pathway, Pfeiffer syndrome, Phenotype, Polydactyly, Preaxial polydactyly type, Primordial type, Progressive arthropathy, Protein brachydactyly type, Protein notes, Pthr1 receptor, Receptor, Recessive, Recessive form, Recessive larsen syndrome, Recessive type, Rickets, Semd, Several forms, Sillence, Skeletal biology, Skeletal component, Skeletal components, Skeletal development, Skeletal dysplasias, Skeletal involvement, Skeletal phenotypes, Sonic hedgehog, Sotos syndrome, Split malformation, Spondylocostal dysostosis type, Spondylometaphyseal dysplasia, Stickler syndrome type, Subunit, Sulfate transporter dtdst, Syndactyly, Syndactyly type, Syndrome, Syndrome type, Syndrome types, Synostoses syndrome type, Tgfbeta receptor subunit, Transcription factor, Transient receptor, Transporter, Trpv4, Trpv4 group, Type syndrome, Warman, Wrinkly skin syndrome.

Abstract

• https://api.istex.fr/document/E236567CE0DBF75301EAA6F3FEE498E279859785/fulltext/pdf
• http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3166781

Affiliations:

• Allemagne, Australie, Belgique, France, Japon, Nouvelle-Zélande, Royaume-Uni, Suisse, États-Unis
• Angleterre, Bade-Wurtemberg, Berlin, Californie, Canton de Vaud, District de Fribourg-en-Brisgau, Grand Londres, Massachusetts, Nouvelle-Galles du Sud, Région de Kantō, Victoria (État), Île-de-France
• Berlin, Fribourg-en-Brisgau, Lausanne, Londres, Melbourne, Paris, Sydney, Tokyo
• Université de Londres, Université de Melbourne, Université de Sydney

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