Omim mutations genes cases retinal dystrophies. Medical search. Frequent questions

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Anatomy14

Fundus Oculi Photoreceptor Cells, Vertebrate Retina Pigment Epithelium of Eye Photoreceptor Cells Retinal Pigment Epithelium Retinal Rod Photoreceptor Cells Retinal Cone Photoreceptor Cells Muscle, Skeletal Rod Cell Outer Segment Cell Line X Chromosome Myoblasts Muscles

Organisms6

Mice, Inbred mdx Rats, Mutant Strains Mice, Inbred C57BL Mice, Knockout Escherichia coli Mice, Transgenic

Diseases45

Retinal Dystrophies Muscular Dystrophies Retinal Degeneration Myotonic Dystrophy Leber Congenital Amaurosis Muscular Dystrophy, Duchenne Retinitis Pigmentosa Corneal Dystrophies, Hereditary Muscular Dystrophy, Animal Fuchs' Endothelial Dystrophy Retinal Diseases Laurence-Moon Syndrome Eye Diseases, Hereditary Syndrome Blindness Muscular Dystrophy, Facioscapulohumeral Microphthalmos Bardet-Biedl Syndrome Night Blindness Alstrom Syndrome Abnormalities, Multiple Muscular Dystrophy, Emery-Dreifuss Optic Atrophy, Hereditary, Leber Usher Syndromes Optic Atrophies, Hereditary Genetic Diseases, Inborn Macular Degeneration Neuroaxonal Dystrophies Choroid Diseases Intellectual Disability Kidney Diseases, Cystic Optic Disk Drusen Muscular Dystrophy, Oculopharyngeal Reflex Sympathetic Dystrophy Vitelliform Macular Dystrophy Vision Disorders Disease Models, Animal Hypotrichosis Genetic Predisposition to Disease Disease Myotonic Disorders Smith-Magenis Syndrome Corneal Dystrophy, Juvenile Epithelial of Meesmann Genetic Diseases, X-Linked Muscular Diseases

Chemicals and Drugs33

cis-trans-Isomerases Eye Proteins Peripherins Dystrophin Codon, Nonsense Membrane Proteins Sarcoglycans Proteins Lipofuscin Carrier Proteins Rhodopsin Nerve Tissue Proteins Dystroglycans Intermediate Filament Proteins ATP-Binding Cassette Transporters Utrophin Rod Opsins Guanylate Cyclase DNA Primers Transcription Factors DNA Receptor Protein-Tyrosine Kinases Codon Thymopoietins DNA-Binding Proteins Mutant Proteins Collagen Type VI RNA, Messenger Muscle Proteins Nuclear Proteins Lamin Type A Cytoskeletal Proteins Collagen Type VIII

Analytical, Diagnostic and Therapeutic Techniques and Equipment24

Pedigree Electroretinography DNA Mutational Analysis Chromosome Mapping Visual Acuity Polymerase Chain Reaction Amino Acid Substitution Fluorescein Angiography Genetic Testing Sequence Analysis, DNA Heteroduplex Analysis Tomography, Optical Coherence Visual Field Tests Ophthalmoscopy Disease Models, Animal Mutagenesis, Site-Directed Heterozygote Detection Genetic Association Studies Sequence Alignment Models, Molecular Cloning, Molecular Genetic Complementation Test Models, Genetic Transfection

Psychiatry and Psychology4

Visual Acuity Intellectual Disability Visual Fields Vision, Ocular

Phenomena and Processes53

Mutation, Missense Mutation Point Mutation Genes, Recessive Consanguinity Frameshift Mutation Exons Phenotype Heterozygote Genes, Dominant Codon, Nonsense Base Sequence Homozygote Germ-Line Mutation Polymorphism, Single-Stranded Conformational Dark Adaptation Genetic Linkage Visual Acuity Genotype Amino Acid Sequence Amino Acid Substitution Exome Mutation Rate Alleles Visual Fields Lod Score Haplotypes Polymorphism, Single Nucleotide Mutagenesis Sequence Deletion Genetic Predisposition to Disease Protein Structure, Tertiary Gene Deletion Founder Effect Genes Sequence Homology, Amino Acid Vision, Ocular Polymorphism, Genetic Codon Suppression, Genetic Binding Sites Light X Chromosome Fluorescence Trinucleotide Repeat Expansion Protein Binding Genome, Human Transfection Introns Genes, p53 Microsatellite Repeats Plasmids Gene Expression

Disciplines and Occupations2

Genetics, Medical Computational Biology

Information Science7

Molecular Sequence Data Base Sequence Amino Acid Sequence Databases, Genetic Internet Information Storage and Retrieval Databases, Factual

Health Care3

Genetic Testing Age of Onset Family Health

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

Retinal Dystrophies Muscular Dystrophies Retinal Degeneration Myotonic Dystrophy Leber Congenital Amaurosis Mutation, Missense Muscular Dystrophy, Duchenne Mutation Retinitis Pigmentosa Point Mutation Pedigree Corneal Dystrophies, Hereditary Electroretinography cis-trans-Isomerases Eye Proteins Muscular Dystrophy, Animal Fundus Oculi Genes, Recessive Consanguinity DNA Mutational Analysis Frameshift Mutation Fuchs' Endothelial Dystrophy Retinal Diseases Laurence-Moon Syndrome Eye Diseases, Hereditary Photoreceptor Cells, Vertebrate Exons Retina Phenotype Syndrome Peripherins Blindness Dystrophin Muscular Dystrophy, Facioscapulohumeral Heterozygote Genes, Dominant Molecular Sequence Data Codon, Nonsense Base Sequence Microphthalmos Bardet-Biedl Syndrome Pigment Epithelium of Eye Homozygote Chromosome Mapping Night Blindness Photoreceptor Cells Germ-Line Mutation Polymorphism, Single-Stranded Conformational Alstrom Syndrome Dark Adaptation Genetic Linkage Visual Acuity Retinal Pigment Epithelium Genotype Abnormalities, Multiple Polymerase Chain Reaction Muscular Dystrophy, Emery-Dreifuss Amino Acid Sequence Optic Atrophy, Hereditary, Leber Usher Syndromes Mice, Inbred mdx Amino Acid Substitution Retinal Rod Photoreceptor Cells Fluorescein Angiography Optic Atrophies, Hereditary Genetic Diseases, Inborn Genetic Testing Exome Sequence Analysis, DNA Retinal Cone Photoreceptor Cells Macular Degeneration Neuroaxonal Dystrophies Choroid Diseases Membrane Proteins Age of Onset Sarcoglycans Intellectual Disability Kidney Diseases, Cystic Proteins Heteroduplex Analysis Optic Disk Drusen Rats, Mutant Strains Mutation Rate Alleles Lipofuscin Carrier Proteins Visual Fields Rhodopsin Nerve Tissue Proteins Databases, Genetic Tomography, Optical Coherence Lod Score Dystroglycans Muscular Dystrophy, Oculopharyngeal Visual Field Tests Haplotypes Muscle, Skeletal Reflex Sympathetic Dystrophy Vitelliform Macular Dystrophy Intermediate Filament Proteins

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