Disorders are autosomal recessive. Medical search. Frequent questions

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Anatomy13

Brain Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 19 Fibroblasts Skin Chromosomes, Human, Pair 5 X Chromosome Chromosomes, Human, Pair 16 Cells, Cultured Fundus Oculi Chromosomes, Human, Pair 6 Cell Line

Organisms3

Mice, Mutant Strains Mice, Inbred C57BL Mice, Knockout

Diseases110

Polycystic Kidney, Autosomal Recessive Syndrome Abnormalities, Multiple Retinitis Pigmentosa Microcephaly Ichthyosis Intellectual Disability Hypotrichosis Metabolism, Inborn Errors Ichthyosiform Erythroderma, Congenital Substance-Related Disorders Genetic Diseases, Inborn Deafness Dwarfism Ichthyosis, Lamellar Osteochondrodysplasias Sleep Disorders Cerebellar Ataxia Hearing Loss, Sensorineural Muscular Dystrophies Genetic Predisposition to Disease Disease Models, Animal Bone Diseases, Developmental Chromosome Disorders Osteopetrosis Eye Diseases, Hereditary Movement Disorders Tic Disorders Nails, Malformed Albinism, Oculocutaneous Mitochondrial Diseases Charcot-Marie-Tooth Disease Nervous System Diseases Ectodermal Dysplasia Ataxia Friedreich Ataxia Amino Acid Metabolism, Inborn Errors Muscular Atrophy, Spinal Cystinosis Dysostoses Cutis Laxa Hair Diseases Hearing Loss Peroxisomal Disorders Eye Abnormalities Foot Deformities, Congenital Muscular Diseases Microphthalmos Retinal Degeneration Optic Atrophy Muscle Hypotonia Syndactyly Heredodegenerative Disorders, Nervous System Hand Deformities, Congenital Kidney Diseases, Cystic Speech Disorders Spastic Paraplegia, Hereditary Parkinsonian Disorders Immunologic Deficiency Syndromes Skin Diseases Facies Polycystic Kidney Diseases Craniofacial Abnormalities Spinal Muscular Atrophies of Childhood Fanconi Anemia Parkinson Disease Granulomatous Disease, Chronic Arthrogryposis Neuromuscular Diseases Keratoderma, Palmoplantar Lysosomal Storage Diseases Alcohol-Related Disorders Alcoholism Acidosis, Renal Tubular Neurodegenerative Diseases Bardet-Biedl Syndrome Tooth Abnormalities Hereditary Sensory and Autonomic Neuropathies Ataxia Telangiectasia Ectromelia Cataract Lipoid Proteinosis of Urbach and Wiethe Polydactyly Usher Syndromes Caroli Disease Night Blindness Xanthomatosis, Cerebrotendinous Lipid Metabolism, Inborn Errors Learning Disorders Pseudoxanthoma Elasticum Epidermolysis Bullosa Rare Diseases Mucolipidoses Myeloproliferative Disorders Spinocerebellar Degenerations Gastrointestinal Diseases Dog Diseases Corneal Dystrophies, Hereditary Diseases in Twins Retinal Dystrophies Papillon-Lefevre Disease Dystonia Hermanski-Pudlak Syndrome Chronic Disease Spinocerebellar Ataxias Genetic Diseases, X-Linked Pigmentation Disorders Lymphoproliferative Disorders Ellis-Van Creveld Syndrome Myotonia Congenita

Chemicals and Drugs19

Codon, Nonsense Genetic Markers Sarcoglycans Eye Proteins Survival of Motor Neuron 1 Protein Membrane Proteins Nerve Tissue Proteins SMN Complex Proteins DNA Antimanic Agents Psychotropic Drugs DNA Primers Ubiquitin-Protein Ligases Proteins RNA Splice Sites Antidepressive Agents RNA, Messenger RecQ Helicases Cyclic Nucleotide Phosphodiesterases, Type 6

Analytical, Diagnostic and Therapeutic Techniques and Equipment24

Pedigree DNA Mutational Analysis Chromosome Mapping Genetic Testing Heterozygote Detection Disease Models, Animal Prevalence Polymerase Chain Reaction Risk Factors Case-Control Studies Electroretinography Sequence Analysis, DNA Severity of Illness Index Magnetic Resonance Imaging Facies Crosses, Genetic Questionnaires Genetic Association Studies Models, Genetic Diagnosis, Dual (Psychiatry)Prenatal Diagnosis Cross-Sectional Studies Cohort Studies Health Surveys

Psychiatry and Psychology44

Bipolar Disorder Anxiety Disorders Mental Disorders Mood Disorders Depressive Disorder Intellectual Disability Depressive Disorder, Major Attention Deficit Disorder with Hyperactivity Phobic Disorders Autistic Disorder Substance-Related Disorders Psychotic Disorders Obsessive-Compulsive Disorder Psychiatric Status Rating Scales Stress Disorders, Post-Traumatic Child Development Disorders, Pervasive Sleep Disorders Somatoform Disorders Tic Disorders Conduct Disorder Schizophrenia Family Eating Disorders Cognition Disorders Borderline Personality Disorder Impulse Control Disorders Anxiety Interview, Psychological Alcohol-Related Disorders Alcoholism Psychotherapy Siblings Antisocial Personality Disorder Personality Disorders Panic Disorder Personality Assessment Depression Cognitive Therapy Developmental Disabilities Learning Disorders Bulimia Nervosa Adolescent Psychiatry Agoraphobia Stress, Psychological

Phenomena and Processes44

Genes, Recessive Consanguinity Mutation Homozygote Phenotype Genetic Linkage Mutation, Missense Lod Score Heterozygote Codon, Nonsense Exons Genotype Base Sequence Alleles Haplotypes Genes, Dominant Frameshift Mutation Amino Acid Sequence Genetic Heterogeneity Founder Effect Genetic Markers Genetic Predisposition to Disease Point Mutation Exome Microsatellite Repeats Chromosomes, Human, Pair 2 Polymorphism, Single-Stranded Conformational Chromosomes, Human, Pair 1 Polymorphism, Genetic Polymorphism, Single Nucleotide Sequence Deletion Chromosomes, Human, Pair 19 Pregnancy Genes, Lethal Gene Frequency Chromosomes, Human, Pair 5 Time Factors RNA Splice Sites X Chromosome Introns Chromosomes, Human, Pair 16 Inheritance Patterns Gene Deletion Chromosomes, Human, Pair 6

Disciplines and Occupations1

Adolescent Psychiatry

Anthropology, Education, Sociology and Social Phenomena2

Family Siblings

Information Science6

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

Named Groups4

Infant, Newborn Arabs Jews Siblings

Health Care13

Age of Onset Family Health Comorbidity Genetic Testing Prevalence Risk Factors Case-Control Studies Severity of Illness Index Questionnaires Age Factors Cross-Sectional Studies Cohort Studies Health Surveys

Geographicals5

Pakistan Tunisia Lebanon Israel Morocco

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

Genes, Recessive Consanguinity Pedigree Mutation Bipolar Disorder Polycystic Kidney, Autosomal Recessive Homozygote Anxiety Disorders Syndrome Mental Disorders Mood Disorders DNA Mutational Analysis Phenotype Genetic Linkage Chromosome Mapping Mutation, Missense Abnormalities, Multiple Retinitis Pigmentosa Diagnostic and Statistical Manual of Mental Disorders Lod Score Heterozygote Microcephaly Molecular Sequence Data Ichthyosis Depressive Disorder Intellectual Disability Hypotrichosis Depressive Disorder, Major Codon, Nonsense Exons Metabolism, Inborn Errors Genotype Base Sequence Alleles Ichthyosiform Erythroderma, Congenital Haplotypes Genes, Dominant Frameshift Mutation Attention Deficit Disorder with Hyperactivity Age of Onset Phobic Disorders Autistic Disorder Substance-Related Disorders Psychotic Disorders Genetic Diseases, Inborn Obsessive-Compulsive Disorder Pakistan Family Health Psychiatric Status Rating Scales Deafness Dwarfism Ichthyosis, Lamellar Stress Disorders, Post-Traumatic Amino Acid Sequence Child Development Disorders, Pervasive Osteochondrodysplasias Comorbidity Sleep Disorders Cerebellar Ataxia Genetic Heterogeneity Hearing Loss, Sensorineural Founder Effect Genetic Testing Heterozygote Detection Muscular Dystrophies Genetic Markers Genetic Predisposition to Disease Infant, Newborn Disease Models, Animal Point Mutation Brain Somatoform Disorders Exome Bone Diseases, Developmental Microsatellite Repeats Prevalence Chromosome Disorders Osteopetrosis Chromosomes, Human, Pair 2 Eye Diseases, Hereditary Movement Disorders Tic Disorders Nails, Malformed Arabs Polymorphism, Single-Stranded Conformational Albinism, Oculocutaneous Conduct Disorder Mitochondrial Diseases Charcot-Marie-Tooth Disease Chromosomes, Human, Pair 1 Nervous System Diseases Ectodermal Dysplasia Schizophrenia Ataxia Friedreich Ataxia Amino Acid Metabolism, Inborn Errors Polymerase Chain Reaction Sarcoglycans Eye Proteins Muscular Atrophy, Spinal

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