Autosomal dominant genetic disorder. Medical search. Frequent questions

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Anatomy21

Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 2 Brain Chromosomes, Human, Pair 19 Cell Line Chromosomes, Human, Pair 1 Cells, Cultured Chromosomes, Human, Pair 4 Kidney Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 12 Fibroblasts Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 5 Cilia Skin Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 10

Organisms4

Mice, Transgenic Mice, Knockout Mice, Inbred C57BL Mice, Mutant Strains

Diseases97

Polycystic Kidney, Autosomal Dominant Genetic Diseases, Inborn Syndrome Retinitis Pigmentosa Optic Atrophy, Autosomal Dominant Bone Diseases, Developmental Polycystic Kidney Diseases Chromosome Disorders Abnormalities, Multiple Ectodermal Dysplasia Tuberous Sclerosis Cataract Neurofibromatosis 1 CADASIL Genetic Predisposition to Disease Skin Diseases, Genetic Williams Syndrome Spinocerebellar Degenerations Noonan Syndrome Disease Models, Animal Musculoskeletal Abnormalities Cerebellar Ataxia Dementia, Multi-Infarct Metabolism, Inborn Errors Keratoderma, Palmoplantar Iron Metabolism Disorders Spastic Paraplegia, Hereditary Hand Deformities, Congenital Marfan Syndrome Pachyonychia Congenita Prader-Willi Syndrome Foot Deformities, Congenital Cysts Nails, Malformed Huntington Disease Rare Diseases Hearing Loss, Sensorineural Substance-Related Disorders Hair Diseases Myositis Ossificans Spinocerebellar Ataxias Muscular Dystrophies Chromosome Aberrations Ataxia Telangiectasia Osteochondrodysplasias Progeria Intellectual Disability Ossification, Heterotopic Osteogenesis Imperfecta Myotonic Dystrophy Eye Diseases, Hereditary Hypohidrosis Bloom Syndrome Chondrodysplasia Punctata Charcot-Marie-Tooth Disease Nervous System Diseases Craniofacial Abnormalities Syndactyly Pigmentation Disorders Tic Disorders Fanconi Anemia Telangiectasia, Hereditary Hemorrhagic Kallmann Syndrome Epilepsy, Frontal Lobe Deafness Mandibulofacial Dysostosis Facies Neurofibromatoses Cockayne Syndrome Epidermolysis Bullosa Simplex Tooth Abnormalities Muscular Diseases Exostoses, Multiple Hereditary Hereditary Sensory and Motor Neuropathy Hyperlipoproteinemia Type II Dwarfism Microcephaly Sleep Disorders Movement Disorders 22q11 Deletion Syndrome Hemochromatosis Dystonia Retinal Degeneration Chorea Job Syndrome Metal Metabolism, Inborn Errors Eye Abnormalities Lymphoproliferative Disorders Lysosomal Storage Diseases Turner Syndrome Ophthalmoplegia Blood Platelet Disorders Dystonia Musculorum Deformans Diabetes Insipidus, Neurogenic Anticipation, Genetic Epilepsy, Partial, Sensory Ophthalmoplegia, Chronic Progressive External

Chemicals and Drugs27

TRPP Cation Channels Genetic Markers Codon, Nonsense Eye Proteins Neurofibromin 1 Proteins Membrane Proteins gamma-Crystallins beta-Crystallin A Chain DNA DNA Primers Rhodopsin Nerve Tissue Proteins RNA Splice Sites RNA, Messenger Nuclear Proteins Lamin Type A DNA-Binding Proteins Peripherins RecQ Helicases DNA Helicases Tumor Suppressor Proteins Transcription Factors Carrier Proteins beta-Crystallin B Chain Protein-Serine-Threonine Kinases DNA, Complementary

Analytical, Diagnostic and Therapeutic Techniques and Equipment26

Pedigree DNA Mutational Analysis Chromosome Mapping Genetic Testing Polymerase Chain Reaction Disease Models, Animal Sequence Analysis, DNA Amino Acid Substitution Prenatal Diagnosis Magnetic Resonance Imaging Electroretinography Case-Control Studies Heterozygote Detection Models, Genetic Transfection Risk Factors Facies Prevalence Preimplantation Diagnosis Models, Biological Severity of Illness Index Genetic Therapy Blotting, Western Sequence Alignment Reverse Transcriptase Polymerase Chain Reaction Immunohistochemistry

Psychiatry and Psychology25

Bipolar Disorder Mental Disorders Anxiety Disorders Mood Disorders Autistic Disorder Depressive Disorder, Major Attention Deficit Disorder with Hyperactivity Dementia, Multi-Infarct Depressive Disorder Obsessive-Compulsive Disorder Stress Disorders, Post-Traumatic Phobic Disorders Huntington Disease Child Development Disorders, Pervasive Psychotic Disorders Substance-Related Disorders Intellectual Disability Conduct Disorder Tic Disorders Cognition Disorders Psychiatric Status Rating Scales Borderline Personality Disorder Somatoform Disorders Sleep Disorders Family

Phenomena and Processes69

Genes, Dominant Mutation Genetic Linkage Phenotype Lod Score Mutation, Missense Genes, Recessive Heterozygote Haplotypes Base Sequence Exons Genotype Genetic Markers Genetic Heterogeneity Point Mutation Alleles Codon, Nonsense Genetic Predisposition to Disease Frameshift Mutation Penetrance Microsatellite Repeats Consanguinity Chromosomes, Human, Pair 16 Homozygote Amino Acid Sequence Chromosomes, Human, Pair 2 Amino Acid Substitution Genes, Neurofibromatosis 1 Chromosomes, Human, Pair 19 Exome Polymorphism, Genetic Chromosomes, Human, Pair 1 Chromosome Aberrations Polymorphism, Single-Stranded Conformational Sequence Deletion Signal Transduction RNA Splice Sites Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 22 Gene Deletion Transfection Polymorphism, Single Nucleotide Chromosomes, Human, Pair 12 Germ-Line Mutation Protein Structure, Tertiary Pregnancy Time Factors Chromosomes, Human, Pair 6 Trinucleotide Repeats Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 15 Gene Frequency Trinucleotide Repeat Expansion Gene Expression Gene Expression Regulation Chromosomes, Human, Pair 5 Polymorphism, Restriction Fragment Length Genetic Variation Chromosomes, Human, Pair 17 Protein Binding Chromosomes, Human, Pair 3 Sequence Homology, Amino Acid Genome, Human Introns Endophenotypes Anticipation, Genetic RNA Splicing Chromosomes, Human, Pair 10 Alternative Splicing

Disciplines and Occupations3

Genetic Counseling Genetics, Medical Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Humanities1

Information Science5

Molecular Sequence Data Base Sequence Diagnostic and Statistical Manual of Mental Disorders Amino Acid Sequence Prevalence

Named Groups2

Infant, Newborn Asian Continental Ancestry Group

Health Care10

Genetic Testing Age of Onset Family Health Genetic Counseling Genetic Services Case-Control Studies Risk Factors Prevalence Severity of Illness Index Comorbidity

Geographicals1

Mediterranean Islands

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Humanities Information Science Named Groups Health Care Geographicals

Genes, Dominant Polycystic Kidney, Autosomal Dominant Pedigree Mutation Genetic Diseases, Inborn Genetic Linkage TRPP Cation Channels Phenotype Lod Score DNA Mutational Analysis Bipolar Disorder Syndrome Mutation, Missense Retinitis Pigmentosa Chromosome Mapping Mental Disorders Genes, Recessive Molecular Sequence Data Heterozygote Optic Atrophy, Autosomal Dominant Anxiety Disorders Mood Disorders Bone Diseases, Developmental Polycystic Kidney Diseases Chromosome Disorders Haplotypes Abnormalities, Multiple Base Sequence Genetic Testing Exons Ectodermal Dysplasia Age of Onset Diagnostic and Statistical Manual of Mental Disorders Family Health Genotype Tuberous Sclerosis Genetic Markers Cataract Genetic Heterogeneity Neurofibromatosis 1 Point Mutation CADASIL Alleles Genetic Counseling Codon, Nonsense Genetic Predisposition to Disease Frameshift Mutation Skin Diseases, Genetic Williams Syndrome Penetrance Spinocerebellar Degenerations Noonan Syndrome Polymerase Chain Reaction Disease Models, Animal Autistic Disorder Depressive Disorder, Major Musculoskeletal Abnormalities Microsatellite Repeats Cerebellar Ataxia Attention Deficit Disorder with Hyperactivity Consanguinity Chromosomes, Human, Pair 16 Dementia, Multi-Infarct Metabolism, Inborn Errors Keratoderma, Palmoplantar Homozygote Amino Acid Sequence Iron Metabolism Disorders Depressive Disorder Chromosomes, Human, Pair 2 Spastic Paraplegia, Hereditary Eye Proteins Neurofibromin 1 Hand Deformities, Congenital Marfan Syndrome Pachyonychia Congenita Sequence Analysis, DNA Obsessive-Compulsive Disorder Stress Disorders, Post-Traumatic Proteins Amino Acid Substitution Prader-Willi Syndrome Genes, Neurofibromatosis 1 Brain Foot Deformities, Congenital Cysts Chromosomes, Human, Pair 19 Nails, Malformed Membrane Proteins Phobic Disorders Huntington Disease gamma-Crystallins Child Development Disorders, Pervasive Psychotic Disorders Rare Diseases Exome Hearing Loss, Sensorineural Cell Line Substance-Related Disorders Polymorphism, Genetic

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