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Anatomy30

Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 4 Fundus Oculi Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 6 Chromosomes, Human, X Chromosomes, Human, Pair 17 Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 8 Brain Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 13 Fibroblasts Skin Anterior Eye Segment Chromosomes, Human, Pair 21 Chromosomes, Human Chromosomes, Human, Pair 14 Ear, Inner Cilia

Diseases97

Syndrome Genetic Predisposition to Disease Hypotrichosis Retinitis Pigmentosa Cataract Abnormalities, Multiple Intellectual Disability Micrognathism Hearing Loss, Sensorineural Cerebellar Ataxia Aniridia Eye Diseases, Hereditary Genetic Diseases, Inborn Corneal Dystrophies, Hereditary Facies Paraparesis, Spastic Hand Deformities, Congenital Eye Abnormalities Microcephaly Microphthalmos Marfan Syndrome Amelogenesis Imperfecta Hearing Loss Keratoderma, Palmoplantar Syndactyly Genetic Diseases, X-Linked Craniofacial Dysostosis Spinocerebellar Degenerations Mandibulofacial Dysostosis Vitelliform Macular Dystrophy Deafness Limb Deformities, Congenital Tooth Abnormalities Bone Diseases, Developmental Osteochondrodysplasias Polycythemia Ectodermal Dysplasia Metabolism, Inborn Errors Charcot-Marie-Tooth Disease Kartagener Syndrome Kidney Diseases, Cystic Nervous System Malformations Elliptocytosis, Hereditary Hyperkeratosis, Epidermolytic Corneal Dystrophy, Juvenile Epithelial of Meesmann Brachial Plexus Neuritis Anemia, Hemolytic, Congenital Arthrogryposis Neoplastic Syndromes, Hereditary Coloboma Contracture Ichthyosis Dystonia Ellis-Van Creveld Syndrome Ehlers-Danlos Syndrome Mental Retardation, X-Linked Exostoses, Multiple Hereditary Nail Diseases Neurofibromatosis 2 Choroid Diseases Night Blindness Vestibular Diseases Ichthyosiform Erythroderma, Congenital Leber Congenital Amaurosis Alopecia Cleft Palate Dementia Fuchs' Endothelial Dystrophy Pigmentation Disorders Cleft Lip Osteogenesis Imperfecta Optic Atrophy, Hereditary, Leber Thyroid Hormone Resistance Syndrome Wolfram Syndrome Optic Atrophies, Hereditary Albinism, Oculocutaneous Muscular Diseases Amino Acid Metabolism, Inborn Errors Muscular Dystrophies, Limb-Girdle Polycystic Kidney, Autosomal Dominant Growth Disorders Myositis Ossificans Myopia Craniofacial Abnormalities Epilepsy Neurofibromatosis 1 Friedreich Ataxia Disease Susceptibility HIV Infections Blindness Skin Diseases Retinal Diseases Macular Degeneration Long QT Syndrome Chromosome Disorders Fragile X Syndrome Retinal Degeneration

Chemicals and Drugs18

Codon, Nonsense Genetic Markers beta-Crystallin A Chain Eye Proteins RNA Splice Sites DNA DNA Primers Keratin-12 gamma-Crystallins Fumarate Hydratase Membrane Proteins Nerve Tissue Proteins Proteins Extracellular Matrix Proteins TRPP Cation Channels Homeodomain Proteins Connexins Transcription Factors

Analytical, Diagnostic and Therapeutic Techniques and Equipment31

Pedigree DNA Mutational Analysis Chromosome Mapping Genetic Testing Sequence Analysis, DNA Polymerase Chain Reaction Facies Models, Genetic Risk Factors Genome-Wide Association Study Genetic Association Studies Heterozygote Detection Physical Chromosome Mapping Prevalence Matched-Pair Analysis Case-Control Studies Electroretinography Cohort Studies Amino Acid Substitution Incidence Questionnaires Magnetic Resonance Imaging Severity of Illness Index Visual Acuity Neonatal Screening Likelihood Functions Fluorescein Angiography Risk Follow-Up Studies Sequence Alignment Prospective Studies

Psychiatry and Psychology8

Family Nuclear Family Intellectual Disability Siblings Dementia Schizophrenia Visual Acuity Autistic Disorder

Phenomena and Processes77

Consanguinity Genetic Linkage Genes, Recessive Genes, Dominant Lod Score Mutation Exome Homozygote Mutation, Missense Phenotype Haplotypes Genetic Predisposition to Disease Exons Heterozygote Chromosomes, Human, Pair 2 Codon, Nonsense Genetic Markers Frameshift Mutation Genotype Base Sequence Penetrance Microsatellite Repeats Founder Effect Alleles Genetic Heterogeneity Chromosomes, Human, Pair 1 Polymorphism, Single Nucleotide Point Mutation Amino Acid Sequence Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 4 Genetic Loci Inheritance Patterns Chromosomes, Human, Pair 7 Polymorphism, Single-Stranded Conformational RNA Splice Sites Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 20 Linkage Disequilibrium Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 3 Heredity Polymorphism, Genetic Genome, Human Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 11 Chromosomes, Human, Pair 6 Chromosomes, Human, X Gene Frequency Chromosomes, Human, Pair 17 Genetic Variation Introns Sequence Deletion Amino Acid Substitution Chromosomes, Human, Pair 9 Trinucleotide Repeats Chromosomes, Human, Pair 8 Germ-Line Mutation Multifactorial Inheritance Gene Deletion Chromosomes, Human, Pair 22 Genes, X-Linked Chromosomes, Human, Pair 13 Gene Components Chromosomes, Human, Pair 21 Visual Acuity Gene Dosage Polymorphism, Restriction Fragment Length Disease Susceptibility RNA Splicing Time Factors Chromosomes, Human Chromosomes, Human, Pair 14 Risk Trinucleotide Repeat Expansion

Disciplines and Occupations1

Genetic Counseling

Anthropology, Education, Sociology and Social Phenomena3

Family Nuclear Family Siblings

Information Science6

Molecular Sequence Data Base Sequence Amino Acid Sequence Prevalence Incidence Questionnaires

Named Groups11

Disabled Persons Arabs Asian Continental Ancestry Group Jews Siblings Infant, Newborn Homeless Persons Mentally Ill Persons Visually Impaired Persons Mentally Disabled Persons European Continental Ancestry Group

Health Care20

Family Health Age of Onset Genetic Testing Risk Factors Genome-Wide Association Study Prevalence Matched-Pair Analysis Case-Control Studies Cohort Studies Age Factors Incidence Genetic Counseling Questionnaires Severity of Illness Index Sex Factors Neonatal Screening Likelihood Functions Risk Follow-Up Studies Prospective Studies

Geographicals9

Pakistan United States Finland Israel Utah China India Germany Canada

Anatomy 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 Geographicals

Pedigree Consanguinity Genetic Linkage Genes, Recessive Genes, Dominant Lod Score Mutation DNA Mutational Analysis Exome Homozygote Chromosome Mapping Mutation, Missense Phenotype Family Health Haplotypes Syndrome Genetic Predisposition to Disease Exons Heterozygote Chromosomes, Human, Pair 2 Codon, Nonsense Family Molecular Sequence Data Genetic Markers Frameshift Mutation Genotype Base Sequence Hypotrichosis Penetrance Microsatellite Repeats Age of Onset Retinitis Pigmentosa Cataract Genetic Testing Nuclear Family beta-Crystallin A Chain Founder Effect Abnormalities, Multiple Alleles Genetic Heterogeneity Intellectual Disability Disabled Persons Sequence Analysis, DNA Pakistan Micrognathism Chromosomes, Human, Pair 1 Hearing Loss, Sensorineural Arabs Polymorphism, Single Nucleotide Polymerase Chain Reaction Cerebellar Ataxia Point Mutation Eye Proteins Amino Acid Sequence Aniridia Eye Diseases, Hereditary Chromosomes, Human, Pair 16 Genetic Diseases, Inborn Corneal Dystrophies, Hereditary Chromosomes, Human, Pair 12 Facies Paraparesis, Spastic Chromosomes, Human, Pair 19 Hand Deformities, Congenital Eye Abnormalities Asian Continental Ancestry Group Microcephaly Microphthalmos Chromosomes, Human, Pair 4 Marfan Syndrome Genetic Loci Amelogenesis Imperfecta Inheritance Patterns Fundus Oculi Chromosomes, Human, Pair 7 Polymorphism, Single-Stranded Conformational Hearing Loss Keratoderma, Palmoplantar Syndactyly Genetic Diseases, X-Linked RNA Splice Sites Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 20 Models, Genetic Craniofacial Dysostosis Spinocerebellar Degenerations Mandibulofacial Dysostosis Vitelliform Macular Dystrophy Risk Factors Deafness Limb Deformities, Congenital Linkage Disequilibrium Tooth Abnormalities Chromosomes, Human, Pair 10 Genome-Wide Association Study Bone Diseases, Developmental Osteochondrodysplasias Chromosomes, Human, Pair 3 Polycythemia Jews

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