Autosomal recessive predisposition. Medical search. Frequent questions

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Anatomy24

Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 9 Chromosomes, Human, Pair 11 Fibroblasts X Chromosome Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 7 Fundus Oculi Skin Cell Line Chromosomes, Human, Pair 8 Cells, Cultured Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 12 Brain Chromosomes, Human, Pair 10 Kidney Hair

Organisms4

Mice, Mutant Strains Mice, Knockout Mice, Inbred C57BL Rats, Mutant Strains

Diseases107

Genetic Predisposition to Disease Polycystic Kidney, Autosomal Recessive Syndrome Retinitis Pigmentosa Microcephaly Abnormalities, Multiple Ichthyosis Hypotrichosis Ichthyosiform Erythroderma, Congenital Intellectual Disability Ichthyosis, Lamellar Deafness Fanconi Anemia Dwarfism Osteochondrodysplasias Hearing Loss, Sensorineural Cerebellar Ataxia Muscular Dystrophies Bloom Syndrome Ataxia Telangiectasia Osteopetrosis Bone Diseases, Developmental Eye Diseases, Hereditary Metabolism, Inborn Errors Chromosome Disorders Albinism, Oculocutaneous Nails, Malformed Genetic Diseases, Inborn Disease Susceptibility Charcot-Marie-Tooth Disease Disease Models, Animal Rothmund-Thomson Syndrome Friedreich Ataxia Ectodermal Dysplasia Muscular Atrophy, Spinal Cutis Laxa Dysostoses Cystinosis Hearing Loss Retinal Degeneration Amino Acid Metabolism, Inborn Errors Microphthalmos Optic Atrophy Werner Syndrome Foot Deformities, Congenital Hair Diseases Eye Abnormalities Kidney Diseases, Cystic Syndactyly Neoplastic Syndromes, Hereditary Spastic Paraplegia, Hereditary Polycystic Kidney Diseases Muscle Hypotonia Spinal Muscular Atrophies of Childhood Hand Deformities, Congenital Dog Diseases Granulomatous Disease, Chronic Acidosis, Renal Tubular Arthrogryposis Facies Craniofacial Abnormalities Keratoderma, Palmoplantar Chromosome Aberrations Tooth Abnormalities Ectromelia Hereditary Sensory and Autonomic Neuropathies Bardet-Biedl Syndrome Nijmegen Breakage Syndrome Cataract Caroli Disease Lipoid Proteinosis of Urbach and Wiethe Usher Syndromes Night Blindness Polydactyly Immunologic Deficiency Syndromes Xanthomatosis, Cerebrotendinous Parkinsonian Disorders Rare Diseases Retinal Dystrophies Papillon-Lefevre Disease Corneal Dystrophies, Hereditary Epidermolysis Bullosa Pseudoxanthoma Elasticum Familial Mediterranean Fever Ataxia Wolfram Syndrome Ellis-Van Creveld Syndrome Mucolipidoses Spinocerebellar Degenerations Lipid Metabolism, Inborn Errors Muscular Diseases Myotonia Congenita Hermanski-Pudlak Syndrome Nephritis, Hereditary Li-Fraumeni Syndrome Blindness Spinocerebellar Ataxias Porphyria, Erythropoietic Limb Deformities, Congenital Vitelliform Macular Dystrophy Muscular Dystrophies, Limb-Girdle Xeroderma Pigmentosum Retinal Diseases Mitochondrial Encephalomyopathies Genetic Diseases, X-Linked Neoplasms Leber Congenital Amaurosis

Chemicals and Drugs32

Codon, Nonsense Genetic Markers RecQ Helicases Sarcoglycans Eye Proteins Membrane Proteins Survival of Motor Neuron 1 Protein DNA Primers Proteins DNA Fanconi Anemia Complementation Group Proteins SMN Complex Proteins Ubiquitin-Protein Ligases DNA-Binding Proteins DNA Helicases RNA Splice Sites Nerve Tissue Proteins Carrier Proteins RNA, Messenger Fanconi Anemia Complementation Group C Protein Cyclic Nucleotide Phosphodiesterases, Type 6 Nuclear Proteins Fanconi Anemia Complementation Group A Protein Ataxia Telangiectasia Mutated Proteins Fanconi Anemia Complementation Group G Protein Tumor Suppressor Proteins Cell Cycle Proteins Iron-Binding Proteins Protein Tyrosine Phosphatases, Non-Receptor Survival of Motor Neuron 2 Protein Fanconi Anemia Complementation Group E Protein Codon, Terminator

Analytical, Diagnostic and Therapeutic Techniques and Equipment23

Pedigree DNA Mutational Analysis Chromosome Mapping Genetic Testing Heterozygote Detection Polymerase Chain Reaction Sequence Analysis, DNA Case-Control Studies Disease Models, Animal Electroretinography Crosses, Genetic Models, Genetic Facies Genetic Association Studies Risk Factors Amino Acid Substitution Genome-Wide Association Study Fatal Outcome Sequence Alignment Prenatal Diagnosis Physical Chromosome Mapping Genetic Complementation Test Reverse Transcriptase Polymerase Chain Reaction

Psychiatry and Psychology4

Intellectual Disability Family Siblings Nuclear Family

Phenomena and Processes66

Genes, Recessive Consanguinity Genetic Predisposition to Disease Mutation Homozygote Genetic Linkage Phenotype Mutation, Missense Lod Score Heterozygote Alleles Genotype Haplotypes Exons Codon, Nonsense Base Sequence Frameshift Mutation Genes, Dominant Genetic Markers Microsatellite Repeats Genetic Heterogeneity Polymorphism, Genetic Founder Effect Polymorphism, Single Nucleotide Exome Polymorphism, Single-Stranded Conformational Amino Acid Sequence Germ-Line Mutation Gene Frequency Chromosomes, Human, Pair 2 Point Mutation Chromosomes, Human, Pair 1 Disease Susceptibility Penetrance Sequence Deletion Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 5 Chromosomes, Human, Pair 16 Genes, Lethal Gene Deletion Chromosomes, Human, Pair 6 Inheritance Patterns Genetic Variation Chromosomes, Human, Pair 9 Chromosome Aberrations Chromosomes, Human, Pair 11 Introns Genetic Loci Polymorphism, Restriction Fragment Length Linkage Disequilibrium X Chromosome Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 4 Chromosomes, Human, Pair 7 RNA Splice Sites DNA Repair Heredity Amino Acid Substitution Sequence Homology, Amino Acid Pregnancy Chromosomes, Human, Pair 8 Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 10 Protein Structure, Tertiary Codon, Terminator

Disciplines and Occupations1

Genetic Counseling

Anthropology, Education, Sociology and Social Phenomena3

Family Siblings Nuclear Family

Information Science4

Molecular Sequence Data Base Sequence Amino Acid Sequence Fatal Outcome

Named Groups6

Arabs Jews Infant, Newborn Siblings Asian Continental Ancestry Group Gypsies

Health Care8

Genetic Testing Family Health Age of Onset Case-Control Studies Genetic Counseling Risk Factors Genome-Wide Association Study Fatal Outcome

Geographicals9

Pakistan Tunisia Lebanon Israel Morocco Syria Turkey Utah Italy

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 Geographicals

Genes, Recessive Consanguinity Pedigree Genetic Predisposition to Disease Mutation Polycystic Kidney, Autosomal Recessive Homozygote Syndrome DNA Mutational Analysis Genetic Linkage Phenotype Chromosome Mapping Mutation, Missense Lod Score Retinitis Pigmentosa Heterozygote Microcephaly Abnormalities, Multiple Alleles Genotype Haplotypes Molecular Sequence Data Exons Ichthyosis Codon, Nonsense Hypotrichosis Base Sequence Frameshift Mutation Genetic Testing Genes, Dominant Family Health Ichthyosiform Erythroderma, Congenital Genetic Markers Intellectual Disability Microsatellite Repeats Genetic Heterogeneity Pakistan Heterozygote Detection Polymorphism, Genetic Founder Effect Ichthyosis, Lamellar Deafness Fanconi Anemia Polymorphism, Single Nucleotide Exome Polymorphism, Single-Stranded Conformational Dwarfism Amino Acid Sequence Germ-Line Mutation Gene Frequency RecQ Helicases Age of Onset Osteochondrodysplasias Hearing Loss, Sensorineural Chromosomes, Human, Pair 2 Cerebellar Ataxia Muscular Dystrophies Point Mutation Polymerase Chain Reaction Family Chromosomes, Human, Pair 1 Arabs Bloom Syndrome Ataxia Telangiectasia Osteopetrosis Bone Diseases, Developmental Jews Eye Diseases, Hereditary Infant, Newborn Metabolism, Inborn Errors Chromosome Disorders Albinism, Oculocutaneous Nails, Malformed Sequence Analysis, DNA Genetic Diseases, Inborn Disease Susceptibility Charcot-Marie-Tooth Disease Penetrance Sarcoglycans Case-Control Studies Sequence Deletion Disease Models, Animal Rothmund-Thomson Syndrome Eye Proteins Friedreich Ataxia Ectodermal Dysplasia Muscular Atrophy, Spinal Cutis Laxa Dysostoses Electroretinography Cystinosis Crosses, Genetic Mice, Mutant Strains Hearing Loss Tunisia Retinal Degeneration Chromosomes, Human, Pair 19 Membrane Proteins Survival of Motor Neuron 1 Protein Amino Acid Metabolism, Inborn Errors

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