Clinical phenotypes. Medical search. Frequent questions

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Anatomy23

Chromosomes, Human, X Cells, Cultured Fibroblasts Cell Line X Chromosome Brain Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 7 Skin Muscle, Skeletal Sural Nerve Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 9 Inclusion Bodies Mitochondria Face T-Lymphocytes

Organisms4

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

Diseases82

Syndrome Genetic Predisposition to Disease Abnormalities, Multiple Mitochondrial Diseases Intellectual Disability Mucopolysaccharidosis VI Myotonic Disorders Chromosome Deletion Genetic Diseases, Inborn Muscular Dystrophies, Limb-Girdle MELAS Syndrome Common Variable Immunodeficiency Disease Models, Animal Genetic Diseases, X-Linked Mitochondrial Encephalomyopathies Mental Retardation, X-Linked Long QT Syndrome Muscular Dystrophies Panuveitis Disease Progression Ophthalmia, Sympathetic Craniofacial Abnormalities Distal Myopathies Microcephaly Retinoschisis Muscle Hypotonia Muscular Diseases Ophthalmoplegia, Chronic Progressive External Hereditary Sensory and Motor Neuropathy Marfan Syndrome Mitochondrial Myopathies Renal Tubular Transport, Inborn Errors alpha-Thalassemia Frontotemporal Dementia Amino Acid Metabolism, Inborn Errors beta-Thalassemia Charcot-Marie-Tooth Disease Supranuclear Palsy, Progressive Ataxia Fragile X Syndrome Uniparental Disomy Peroxisomal Disorders Congenital Disorders of Glycosylation Cardiomyopathy, Hypertrophic Mucopolysaccharidosis III Paralyses, Familial Periodic Chondrodysplasia Punctata Leber Congenital Amaurosis Myopathies, Nemaline Frontotemporal Lobar Degeneration Homocystinuria Leigh Disease Retinitis Pigmentosa Arthrogryposis Monosomy Angelman Syndrome Thalassemia Carbohydrate Metabolism, Inborn Errors Prader-Willi Syndrome Cerebellar Ataxia Lipid Metabolism, Inborn Errors Immunologic Deficiency Syndromes Motor Neuron Disease Sarcoidosis Optic Atrophy, Hereditary, Leber Severe Combined Immunodeficiency Myeloproliferative Disorders Polycythemia Vera Cardiomyopathy, Dilated Thrombocythemia, Essential Metabolism, Inborn Errors Cardiomyopathies Adrenoleukodystrophy Hyperlipoproteinemia Type II Amyotrophic Lateral Sclerosis Dementia Fanconi Anemia Uveitis Muscular Atrophy, Spinal Growth Disorders Chromosome Aberrations Asthma

Chemicals and Drugs35

Codon, Nonsense Chondro-4-Sulfatase DNA, Mitochondrial NAV1.5 Voltage-Gated Sodium Channel Hemoglobin E Membrane Proteins RNA, Messenger Genetic Markers Hemoglobin H Transcription Factors DNA-Binding Proteins DNA Primers Carrier Proteins RNA Splice Sites Proteins DNA Eye Proteins Nuclear Proteins Homeodomain Proteins Hemoglobins, Abnormal Autoantibodies Biological Markers Mutant Proteins DNA, Complementary NAV1.4 Voltage-Gated Sodium Channel Fragile X Mental Retardation Protein Sodium Channels Nod2 Signaling Adaptor Protein ATP-Binding Cassette Transporters Muscle Proteins Recombinant Proteins Neoplasm Proteins Microfilament Proteins Bacterial Proteins Adenosine Triphosphatases

Analytical, Diagnostic and Therapeutic Techniques and Equipment40

Pedigree DNA Mutational Analysis Genetic Association Studies Polymerase Chain Reaction Chromosome Mapping Genetic Testing Sequence Analysis, DNA Heterozygote Detection Amino Acid Substitution Cohort Studies Disease Models, Animal Genetic Complementation Test Gene Expression Profiling Reverse Transcriptase Polymerase Chain Reaction Models, Genetic Severity of Illness Index Immunohistochemistry Case-Control Studies Oligonucleotide Array Sequence Analysis Blotting, Western Cloning, Molecular Transfection Genome-Wide Association Study In Situ Hybridization, Fluorescence Mutagenesis, Insertional Karyotyping Cluster Analysis Magnetic Resonance Imaging Models, Biological Sequence Alignment Electroretinography Blotting, Southern Immunophenotyping Crosses, Genetic Prognosis Mutagenesis, Site-Directed Risk Factors Restriction Mapping Autopsy Models, Molecular

Psychiatry and Psychology8

Intellectual Disability Frontotemporal Dementia Siblings Frontotemporal Lobar Degeneration Developmental Disabilities Family Dementia Autistic Disorder

Phenomena and Processes77

Phenotype Mutation Genotype Mutation, Missense Homozygote Heterozygote Alleles Base Sequence Point Mutation Genetic Predisposition to Disease Genetic Heterogeneity Penetrance Exons Codon, Nonsense Frameshift Mutation Genetic Linkage Gene Deletion Genes, Dominant Amino Acid Sequence Consanguinity Polymorphism, Genetic Genes, Recessive Polymorphism, Single Nucleotide Genetic Variation Haplotypes Chromosomes, Human, X Sequence Deletion Amino Acid Substitution Chromosome Deletion Polymorphism, Single-Stranded Conformational DNA Repeat Expansion Gene Frequency Genetic Markers X Chromosome Gene Expression RNA Splice Sites Signal Transduction Gene Dosage Gene Expression Regulation Chromosomes, Human, Pair 15 Microsatellite Repeats Cell Differentiation Uniparental Disomy Transfection Founder Effect Polymorphism, Restriction Fragment Length Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 5 Mutagenesis, Insertional Lod Score Genes, X-Linked Sequence Homology, Amino Acid Monosomy Genomic Imprinting Protein Structure, Tertiary Chromosomes, Human, Pair 7 Genome, Human Genetic Loci Transcription, Genetic Gene Duplication Time Factors Introns Chromosomes, Human, Pair 16 Promoter Regions, Genetic Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 17 Gene Expression Regulation, Developmental RNA Splicing Chromosomes, Human, Pair 1 Germ-Line Mutation Chromosomes, Human, Pair 6 Linkage Disequilibrium DNA Copy Number Variations Chromosomes, Human, Pair 9 Gene Expression Regulation, Neoplastic Chromosome Aberrations Algorithms

Disciplines and Occupations3

Immunohistochemistry Computational Biology Molecular Biology

Anthropology, Education, Sociology and Social Phenomena3

Siblings Family Autopsy

Information Science5

Molecular Sequence Data Base Sequence Amino Acid Sequence Databases, Genetic Algorithms

Named Groups3

Infant, Newborn Siblings Asian Continental Ancestry Group

Health Care9

Age of Onset Family Health Genetic Testing Cohort Studies Severity of Illness Index Case-Control Studies Genome-Wide Association Study Cluster Analysis Risk Factors

Geographicals2

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

Phenotype Mutation Pedigree DNA Mutational Analysis Genotype Mutation, Missense Syndrome Molecular Sequence Data Age of Onset Homozygote Heterozygote Alleles Base Sequence Point Mutation Genetic Predisposition to Disease Genetic Heterogeneity Genetic Association Studies Abnormalities, Multiple Penetrance Exons Mitochondrial Diseases Codon, Nonsense Family Health Frameshift Mutation Genetic Linkage Intellectual Disability Polymerase Chain Reaction Gene Deletion Genes, Dominant Amino Acid Sequence Chromosome Mapping Consanguinity Polymorphism, Genetic Genetic Testing Chondro-4-Sulfatase Mucopolysaccharidosis VI Genes, Recessive Polymorphism, Single Nucleotide Genetic Variation Haplotypes Chromosomes, Human, X Sequence Deletion Myotonic Disorders Sequence Analysis, DNA Heterozygote Detection Amino Acid Substitution Chromosome Deletion Cells, Cultured Genetic Diseases, Inborn Muscular Dystrophies, Limb-Girdle DNA, Mitochondrial Polymorphism, Single-Stranded Conformational Fibroblasts NAV1.5 Voltage-Gated Sodium Channel DNA Repeat Expansion MELAS Syndrome Common Variable Immunodeficiency Cohort Studies Disease Models, Animal Hemoglobin E Genetic Diseases, X-Linked Membrane Proteins RNA, Messenger Genetic Complementation Test Mitochondrial Encephalomyopathies Gene Frequency Mental Retardation, X-Linked Long QT Syndrome Genetic Markers Hemoglobin H Muscular Dystrophies Cell Line Panuveitis Disease Progression X Chromosome Gene Expression Profiling Ophthalmia, Sympathetic Craniofacial Abnormalities Distal Myopathies Brain Mice, Inbred C57BL Infant, Newborn Microcephaly Reverse Transcriptase Polymerase Chain Reaction Retinoschisis Mice, Transgenic Muscle Hypotonia Transcription Factors Mice, Knockout Muscular Diseases Models, Genetic DNA-Binding Proteins DNA Primers Carrier Proteins Gene Expression Ophthalmoplegia, Chronic Progressive External RNA Splice Sites Hereditary Sensory and Motor Neuropathy Severity of Illness Index Immunohistochemistry

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