MeSH term
Frequency | Condition_Probility | Animals | 51 | 0.0 |
Chondrocytes/*metabolism | 4 | 12.0 |
DNA, Complementary/metabolism | 2 | 0.0 |
*Gene Expression Regulation, Developmental | 5 | 0.0 |
Immunohistochemistry | 6 | 0.0 |
Microscopy, Fluorescence | 2 | 0.0 |
Mutation | 19 | 0.0 |
Research Support, Non-U.S. Gov't | 140 | 0.0 |
Reverse Transcriptase Polymerase Chain Reaction | 6 | 0.0 |
Signal Transduction | 2 | 0.0 |
Time Factors | 3 | 0.0 |
Transfection | 10 | 0.0 |
Aged | 18 | 0.0 |
Collagen Type II/*genetics | 19 | 86.0 |
Collagen Type IX/*genetics | 2 | 40.0 |
Collagen Type XI/*genetics | 3 | 60.0 |
Female | 106 | 0.0 |
Haplotypes | 5 | 0.0 |
Humans | 213 | 0.0 |
Linkage Disequilibrium | 2 | 0.0 |
Male | 95 | 0.0 |
Middle Aged | 32 | 0.0 |
Osteoarthritis, Hip/*genetics | 2 | 40.0 |
Chromosome Mapping | 20 | 0.0 |
Chromosomes, Human, Pair 12/*genetics | 3 | 2.0 |
Cohort Studies | 3 | 0.0 |
DNA Mutational Analysis | 28 | 0.0 |
Gene Frequency/genetics | 2 | 0.0 |
Linkage (Genetics)/*genetics | 5 | 1.0 |
Mutation/*genetics | 5 | 0.0 |
Polymorphism, Genetic/*genetics | 4 | 0.0 |
Receptors, Calcitriol/*genetics | 3 | 0.0 |
Research Support, U.S. Gov't, P.H.S. | 87 | 0.0 |
Sex Factors | 2 | 0.0 |
Adolescent | 20 | 0.0 |
Adult | 40 | 0.0 |
Exons/genetics | 9 | 0.0 |
*Frameshift Mutation | 3 | 1.0 |
Linkage (Genetics) | 18 | 0.0 |
Microsatellite Repeats | 3 | 0.0 |
Pedigree | 65 | 0.0 |
Polymerase Chain Reaction | 38 | 0.0 |
RNA, Messenger/genetics | 7 | 0.0 |
Syndrome | 35 | 1.0 |
Vitreous Body/*pathology | 4 | 30.0 |
Abnormalities, Multiple/*genetics/pathology | 5 | 6.0 |
Child, Preschool | 13 | 0.0 |
*Chromosome Deletion | 2 | 0.0 |
Collagen Type II/genetics | 5 | 45.0 |
Genotype | 13 | 0.0 |
Infant | 9 | 0.0 |
Phenotype | 30 | 0.0 |
Cell Differentiation | 5 | 0.0 |
Cells, Cultured | 15 | 0.0 |
Chondrocytes/*physiology | 2 | 14.0 |
*Extracellular Matrix Proteins | 4 | 2.0 |
Interleukin-1/*pharmacology | 3 | 0.0 |
Kinetics | 2 | 0.0 |
RNA, Messenger/biosynthesis | 2 | 0.0 |
*Transforming Growth Factor beta | 4 | 2.0 |
Achondroplasia/*genetics/radiography | 2 | 66.0 |
Extracellular Matrix Proteins/genetics | 2 | 3.0 |
Genes, Dominant | 11 | 1.0 |
Glycoproteins/genetics | 2 | 2.0 |
Hand/radiography | 2 | 15.0 |
*Heterozygote | 2 | 0.0 |
Mutation, Missense | 4 | 0.0 |
Osteochondrodysplasias/*genetics/radiography | 5 | 38.0 |
Chromosomes, Human, Pair 12 | 7 | 4.0 |
English Abstract | 5 | 0.0 |
Fatal Outcome | 2 | 0.0 |
Infant, Newborn | 10 | 0.0 |
Alleles | 25 | 0.0 |
Collagen Type II/*genetics/metabolism | 3 | 100.0 |
Gene Silencing/*physiology | 2 | 8.0 |
Heterozygote | 7 | 0.0 |
Mice | 35 | 0.0 |
Mice, Inbred C57BL | 5 | 0.0 |
Reference Values | 3 | 0.0 |
Tissue Distribution | 3 | 0.0 |
Base Sequence | 68 | 0.0 |
Cattle | 3 | 0.0 |
Cell Differentiation/genetics | 3 | 1.0 |
Chondrocytes/cytology/*metabolism | 2 | 12.0 |
Enhancer Elements (Genetics) | 2 | 0.0 |
Fetus | 2 | 0.0 |
Molecular Sequence Data | 75 | 0.0 |
Promoter Regions (Genetics) | 6 | 0.0 |
Y Chromosome/genetics | 2 | 6.0 |
Child | 25 | 0.0 |
DNA/chemistry/genetics | 3 | 0.0 |
Family Health | 4 | 0.0 |
Osteoarthritis/*genetics/radiography | 5 | 83.0 |
*Alleles | 6 | 0.0 |
Blotting, Western | 5 | 0.0 |
Genes, Dominant/genetics | 2 | 1.0 |
Polymorphism, Genetic/genetics | 2 | 0.0 |
RNA, Messenger/genetics/metabolism | 2 | 0.0 |
Disease Models, Animal | 2 | 0.0 |
Gene Expression/drug effects | 2 | 0.0 |
Procollagen/genetics | 8 | 32.0 |
RNA, Messenger/analysis | 8 | 0.0 |
Rats | 4 | 0.0 |
*Chromosome Mapping | 3 | 0.0 |
*Chromosomes, Human, Pair 12 | 11 | 4.0 |
*Chromosomes, Human, Pair 17 | 2 | 0.0 |
Connective Tissue Diseases/genetics | 4 | 44.0 |
*Linkage (Genetics) | 11 | 0.0 |
Lod Score | 7 | 0.0 |
Myopia/*genetics | 5 | 50.0 |
Collagen/genetics | 12 | 12.0 |
DNA Primers | 9 | 0.0 |
Gene Expression | 5 | 0.0 |
*Protein-Tyrosine Kinase | 2 | 0.0 |
Receptors, Fibroblast Growth Factor/genetics | 2 | 3.0 |
Collagen/*genetics | 67 | 14.0 |
Connective Tissue Diseases/*genetics/pathology | 4 | 80.0 |
Eye Diseases, Hereditary/*genetics/pathology | 2 | 50.0 |
*Mutation | 20 | 0.0 |
Myopia/genetics | 2 | 28.0 |
Retinal Degeneration/*genetics/pathology | 2 | 12.0 |
Amino Acid Motifs | 2 | 0.0 |
Binding Sites | 4 | 0.0 |
Chondrocytes/cytology/*physiology | 2 | 28.0 |
DNA/metabolism | 4 | 0.0 |
Transcription Factors/*physiology | 4 | 0.0 |
Tumor Cells, Cultured | 6 | 0.0 |
Amino Acid Sequence | 32 | 0.0 |
Cartilage/*embryology | 2 | 28.0 |
In Situ Hybridization | 7 | 0.0 |
Sequence Analysis, DNA | 6 | 0.0 |
Sequence Homology, Amino Acid | 4 | 0.0 |
Zebrafish | 2 | 1.0 |
COS Cells | 2 | 0.0 |
Microscopy, Electron | 5 | 0.0 |
Animals, Newborn | 4 | 0.0 |
Comparative Study | 13 | 0.0 |
Disease Susceptibility | 3 | 0.0 |
Mice, Transgenic | 10 | 0.0 |
*Variation (Genetics) | 3 | 0.0 |
Carrier Proteins/genetics | 2 | 0.0 |
Cell Line | 6 | 0.0 |
Interleukin-1/pharmacology | 2 | 0.0 |
Genetic Predisposition to Disease | 2 | 0.0 |
Osteoarthritis/*genetics | 8 | 53.0 |
RNA, Messenger/metabolism | 6 | 0.0 |
Collagen Diseases/*genetics | 4 | 66.0 |
Gene Amplification | 3 | 0.0 |
In Vitro | 2 | 0.0 |
Restriction Mapping | 11 | 0.0 |
DNA/analysis | 5 | 0.0 |
*Genetic Predisposition to Disease | 2 | 0.0 |
Minisatellite Repeats | 4 | 3.0 |
*Polymorphism, Genetic | 12 | 0.0 |
Prospective Studies | 5 | 0.0 |
Blotting, Northern | 5 | 0.0 |
Chickens | 3 | 0.0 |
Conserved Sequence/*genetics | 2 | 3.0 |
DNA, Complementary/genetics | 4 | 0.0 |
In Situ Hybridization, Fluorescence | 2 | 0.0 |
Organ Specificity | 2 | 0.0 |
Proteins/*genetics | 3 | 0.0 |
Sequence Alignment | 3 | 0.0 |
Achondroplasia/*genetics | 2 | 6.0 |
Joint Diseases/genetics | 2 | 66.0 |
Retinal Detachment/*genetics | 4 | 66.0 |
Blotting, Southern | 3 | 0.0 |
*Forensic Medicine | 2 | 4.0 |
Polymerase Chain Reaction/methods | 4 | 0.0 |
Abnormalities, Multiple/*genetics | 4 | 1.0 |
Connective Tissue Diseases/*genetics | 6 | 75.0 |
Introns | 6 | 0.0 |
Point Mutation | 8 | 0.0 |
RNA Splicing/genetics | 2 | 1.0 |
Risk Factors | 2 | 0.0 |
Chimeric Proteins/biosynthesis | 2 | 4.0 |
Fluorescent Antibody Technique | 2 | 0.0 |
Protein Structure, Secondary | 5 | 0.0 |
Extracellular Matrix Proteins/*genetics | 2 | 2.0 |
Glycoproteins/*genetics | 4 | 2.0 |
Proteoglycans/genetics | 2 | 8.0 |
Ear/abnormalities | 2 | 20.0 |
Eye Diseases, Hereditary/genetics/pathology | 2 | 66.0 |
Face/abnormalities | 2 | 3.0 |
Joints/abnormalities | 2 | 66.0 |
Bone Morphogenetic Proteins/*physiology | 2 | 9.0 |
High Mobility Group Proteins/*physiology | 3 | 25.0 |
Mice, Inbred Strains | 2 | 0.0 |
Bone and Bones/radiography | 4 | 28.0 |
*Gene Deletion | 3 | 0.0 |
Models, Genetic | 2 | 0.0 |
Procollagen/*genetics | 39 | 36.0 |
Anthraquinones | 2 | 40.0 |
Collagen/*biosynthesis/genetics | 4 | 23.0 |
Chick Embryo | 2 | 0.0 |
*Enhancer Elements (Genetics) | 3 | 1.0 |
Gene Expression Regulation | 6 | 0.0 |
Nuclear Proteins/genetics/*metabolism | 2 | 0.0 |
Trans-Activation (Genetics) | 3 | 0.0 |
Aged, 80 and over | 5 | 0.0 |
Gene Frequency | 7 | 0.0 |
Glycine/*genetics | 3 | 8.0 |
Arginine/*genetics | 3 | 5.0 |
Cysteine/*genetics | 3 | 11.0 |
*Point Mutation | 11 | 0.0 |
Polymorphism, Restriction Fragment Length | 24 | 1.0 |
Cartilage/abnormalities/*metabolism | 2 | 100.0 |
Cartilage/metabolism | 3 | 10.0 |
Embryonic and Fetal Development | 4 | 1.0 |
*Gene Expression Regulation | 2 | 0.0 |
Genes, Reporter | 2 | 0.0 |
*Regulatory Sequences, Nucleic Acid | 2 | 0.0 |
Transgenes | 3 | 0.0 |
Collagen/classification/*genetics | 3 | 42.0 |
Electrophoresis, Polyacrylamide Gel | 8 | 0.0 |
*Nucleic Acid Heteroduplexes | 2 | 13.0 |
*Repetitive Sequences, Nucleic Acid | 8 | 2.0 |
China/ethnology | 2 | 1.0 |
European Continental Ancestry Group/*genetics | 2 | 0.0 |
Genetic Markers | 8 | 0.0 |
Genetics, Population | 3 | 0.0 |
*Minisatellite Repeats | 2 | 2.0 |
Sequence Homology, Nucleic Acid | 6 | 0.0 |
DNA/*genetics | 4 | 1.0 |
*Genes, Dominant | 3 | 1.0 |
Exons | 15 | 0.0 |
Chromosome Disorders | 2 | 0.0 |
Mutation/genetics | 5 | 0.0 |
Osteochondrodysplasias/epidemiology/*genetics | 2 | 66.0 |
Software | 2 | 0.0 |
Cartilage/embryology | 2 | 40.0 |
Gene Expression Regulation, Developmental/*physiology | 2 | 1.0 |
3T3 Cells | 3 | 0.0 |
Bone Diseases, Developmental/genetics | 2 | 18.0 |
DNA Probes/genetics | 2 | 1.0 |
High Mobility Group Proteins/*genetics | 2 | 2.0 |
Transcription Factors/*genetics | 2 | 0.0 |
DNA-Binding Proteins/metabolism | 3 | 0.0 |
Sequence Deletion | 3 | 0.0 |
Facial Bones/abnormalities | 2 | 20.0 |
Homozygote | 3 | 0.0 |
Promoter Regions (Genetics)/*genetics | 3 | 0.0 |
Genes, Structural/genetics | 2 | 0.0 |
Mice, Mutant Strains | 2 | 0.0 |
Osteochondrodysplasias/*genetics | 15 | 19.0 |
Sequence Deletion/*genetics | 2 | 1.0 |
Biological Transport | 2 | 0.0 |
Structure-Activity Relationship | 2 | 0.0 |
*Alternative Splicing | 4 | 0.0 |
Collagen/chemistry/*genetics | 3 | 10.0 |
*Exons | 4 | 1.0 |
Eye Diseases/*genetics | 5 | 29.0 |
Glycine | 2 | 2.0 |
Micrognathism/genetics | 2 | 50.0 |
Polymerase Chain Reaction/*methods | 2 | 0.0 |
Variation (Genetics) | 3 | 0.0 |
Ilium | 2 | 50.0 |
Cartilage/pathology | 2 | 33.0 |
Collagen/metabolism | 2 | 0.0 |
South Africa | 3 | 2.0 |
*Polymerase Chain Reaction | 2 | 0.0 |
Ehlers-Danlos Syndrome/*genetics | 2 | 6.0 |
Lymphocytes/metabolism | 2 | 0.0 |
*Polymorphism, Restriction Fragment Length | 5 | 0.0 |
Recombination, Genetic | 4 | 0.0 |
Bone Development | 3 | 10.0 |
Collagen/biosynthesis/*genetics | 3 | 10.0 |
Pregnancy | 4 | 0.0 |
Bone and Bones/pathology/radiography | 2 | 33.0 |
Osteochondrodysplasias/*genetics/pathology/radiography | 2 | 66.0 |
*Evolution, Molecular | 2 | 0.0 |
*Genetics, Population | 2 | 0.0 |
Linkage (Genetics)/genetics | 2 | 0.0 |
Osteoarthritis/genetics | 4 | 80.0 |
*Paternity | 2 | 2.0 |
Polymorphism, Genetic | 11 | 0.0 |
Eye Diseases/genetics | 3 | 23.0 |
Retinal Detachment/genetics | 2 | 50.0 |
*Vitreous Body | 2 | 28.0 |
Introns/genetics | 4 | 0.0 |
Research Support, U.S. Gov't, Non-P.H.S. | 5 | 0.0 |
Species Specificity | 3 | 0.0 |
Base Composition | 3 | 1.0 |
Cartilage/*metabolism | 2 | 10.0 |
Procollagen/biosynthesis/*genetics | 2 | 33.0 |
*Promoter Regions (Genetics) | 5 | 0.0 |
Transcription, Genetic | 6 | 0.0 |
Cartilage Diseases/*genetics | 3 | 100.0 |
Codon, Terminator/*genetics | 2 | 7.0 |
DNA/*analysis/chemistry | 2 | 28.0 |
Fundus Oculi | 2 | 2.0 |
Retinal Diseases/genetics | 2 | 18.0 |
Cysteine | 2 | 1.0 |
Osteochondrodysplasias/classification/*genetics | 2 | 50.0 |
Osteoarthritis/*metabolism | 2 | 10.0 |
Chondrodysplasia Punctata/*genetics/pathology | 2 | 100.0 |
Leukocytes/chemistry | 2 | 4.0 |
Binding Sites/genetics | 2 | 0.0 |
Nucleic Acid Conformation | 2 | 0.0 |
Oligonucleotide Probes/genetics | 2 | 1.0 |
*DNA Mutational Analysis | 2 | 1.0 |
Osteochondrodysplasias/genetics | 2 | 22.0 |
Collagen/*genetics/metabolism | 3 | 8.0 |
Family | 2 | 0.0 |
Achondroplasia/genetics | 2 | 28.0 |
Arginine/genetics | 4 | 2.0 |
Cysteine/genetics | 4 | 3.0 |
Deoxyribonucleases, Type II Site-Specific | 3 | 1.0 |
Osteochondrodysplasias/*genetics/physiopathology | 2 | 33.0 |
*Body Height | 2 | 4.0 |
*Genes | 5 | 2.0 |
Molecular Biology | 2 | 0.0 |
Polymorphism, Single-Stranded Conformational | 2 | 0.0 |
*Proteoglycans | 2 | 10.0 |
Cycloheximide/pharmacology | 2 | 0.0 |
Genome, Human | 2 | 0.0 |
Models, Molecular | 2 | 0.0 |
DNA Probes | 8 | 0.0 |
Protein Conformation | 2 | 0.0 |
Diagnosis, Differential | 3 | 0.0 |
Genes, Structural/*genetics | 2 | 0.0 |
Hybrid Cells | 3 | 0.0 |
Translocation, Genetic | 2 | 0.0 |
Mosaicism | 2 | 2.0 |
*Sequence Deletion | 3 | 0.0 |
Genes, Structural | 12 | 1.0 |
Joint Diseases/*genetics | 2 | 33.0 |
Repetitive Sequences, Nucleic Acid | 3 | 0.0 |
Nucleic Acid Hybridization | 13 | 0.0 |
RNA, Messenger/*biosynthesis/genetics | 2 | 3.0 |
*Genetic Markers | 3 | 0.0 |
Cloning, Molecular | 9 | 0.0 |
Cosmids | 5 | 1.0 |
DNA | 5 | 0.0 |
Bone and Bones/*chemistry | 2 | 15.0 |
Macromolecular Substances | 2 | 0.0 |
Osteochondrodysplasias/*genetics/pathology | 3 | 42.0 |
Germany | 2 | 0.0 |
Connective Tissue Diseases/diagnosis/*genetics | 2 | 100.0 |
Plasmids | 2 | 0.0 |
Recombinant Fusion Proteins/metabolism | 2 | 0.0 |
*Transcription, Genetic | 2 | 0.0 |
Age of Onset | 3 | 0.0 |
Osteoarthritis/complications/*genetics | 2 | 100.0 |
Osteochondrodysplasias/complications/*genetics | 2 | 66.0 |
Oligodeoxyribonucleotides | 3 | 0.0 |
Fibroblasts/metabolism | 2 | 0.0 |
Osteochondrodysplasias/congenital/*genetics | 2 | 100.0 |
Nucleic Acid Denaturation | 2 | 2.0 |
Codon/genetics | 2 | 0.0 |
DNA/genetics/isolation & purification | 3 | 1.0 |
DNA/genetics | 6 | 0.0 |
Oligonucleotide Probes | 3 | 0.0 |
DNA, Single-Stranded | 2 | 2.0 |
Bone Diseases, Developmental/*genetics/radiography | 2 | 40.0 |
DNA/analysis/genetics | 2 | 1.0 |
Bone Diseases, Developmental/*genetics | 2 | 15.0 |
*Introns | 2 | 0.0 |
Osteochondrodysplasias/*diagnosis/genetics/radiography | 2 | 66.0 |
*Gene Amplification | 2 | 0.0 |
Consensus Sequence | 2 | 0.0 |
*Genes, Structural | 8 | 0.0 |
Eye Diseases, Hereditary/*diagnosis/genetics | 2 | 100.0 |
Karyotyping | 2 | 0.0 |
Chromosome Banding | 3 | 0.0 |
*Multigene Family | 2 | 0.0 |
Chromosome Deletion | 2 | 0.0 |
DNA Restriction Enzymes | 4 | 1.0 |
Hamsters | 2 | 0.0 |
*Chromosomes, Human, 6-12 and X | 2 | 1.0 |
Protein Binding | 2 | 0.0 |
Mutagenesis, Site-Directed | 2 | 0.0 |
Transcription Factors/*metabolism | 2 | 0.0 |
