Recessive genetic. Medical search. Frequent questions

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Anatomy17

X Chromosome Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 16 Chromosomes, Human, Pair 19 Skin Chromosomes, Human, Pair 6 Fibroblasts Chromosomes, Human, X Chromosomes, Human, Pair 5 Fundus Oculi Chromosomes, Human, Pair 7 Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 11 Hybrid Cells Chromosomes, Human, Pair 9 Cell Line

Organisms3

Mice, Mutant Strains Drosophila melanogaster Saccharomyces cerevisiae

Diseases100

Polycystic Kidney, Autosomal Recessive Syndrome Retinitis Pigmentosa Ichthyosis Abnormalities, Multiple Microcephaly Epidermolysis Bullosa Dystrophica Deafness Hypotrichosis Intellectual Disability Ichthyosiform Erythroderma, Congenital Genetic Predisposition to Disease Hearing Loss, Sensorineural Osteochondrodysplasias Cerebellar Ataxia Ichthyosis, Lamellar Dwarfism Genetic Diseases, Inborn Muscular Dystrophies Bone Diseases, Developmental Epidermolysis Bullosa Eye Diseases, Hereditary Osteopetrosis Metabolism, Inborn Errors Myotonia Congenita Charcot-Marie-Tooth Disease Hearing Loss Ectodermal Dysplasia Friedreich Ataxia Dysostoses Chromosome Disorders Nails, Malformed Retinal Degeneration Albinism, Oculocutaneous Microphthalmos Arthrogryposis Syndactyly Cutis Laxa Kidney Diseases, Cystic Muscular Atrophy, Spinal Eye Abnormalities Acidosis, Renal Tubular Foot Deformities, Congenital Hair Diseases Hereditary Sensory and Autonomic Neuropathies Amino Acid Metabolism, Inborn Errors Spastic Paraplegia, Hereditary Genetic Diseases, X-Linked Polycystic Kidney Diseases Cystinosis Optic Atrophy Facies Muscle Hypotonia Fanconi Anemia Keratoderma, Palmoplantar Sex Chromosome Aberrations Craniofacial Abnormalities Night Blindness Muscular Diseases Limb Deformities, Congenital Disease Models, Animal Ataxia Hand Deformities, Congenital Parkinsonian Disorders Spinal Muscular Atrophies of Childhood Bardet-Biedl Syndrome Osteogenesis Imperfecta Cataract Tooth Abnormalities Ataxia Telangiectasia Usher Syndromes Granulomatous Disease, Chronic Ectromelia Amelogenesis Imperfecta Muscular Dystrophies, Limb-Girdle Spinocerebellar Ataxias Agenesis of Corpus Callosum Retinal Dystrophies Pseudoxanthoma Elasticum Polydactyly Familial Mediterranean Fever Blindness Leber Congenital Amaurosis Lipoid Proteinosis of Urbach and Wiethe Methemoglobinemia Immunologic Deficiency Syndromes Albinism Spinocerebellar Degenerations Cystinuria Corneal Dystrophies, Hereditary Chromosome Aberrations Bloom Syndrome Ellis-Van Creveld Syndrome Caroli Disease Xanthomatosis, Cerebrotendinous Hermanski-Pudlak Syndrome Retinal Diseases Ciliary Motility Disorders Myotonia Skin Abnormalities

Chemicals and Drugs23

Codon, Nonsense Genetic Markers Collagen Type VII Eye Proteins Membrane Proteins Ethyl Methanesulfonate Ethylnitrosourea Sarcoglycans Survival of Motor Neuron 1 Protein DNA Primers DNA RNA Splice Sites Proteins Ubiquitin-Protein Ligases SMN Complex Proteins RNA, Messenger Connexins Cyclic Nucleotide Phosphodiesterases, Type 6 Codon, Terminator Nerve Tissue Proteins RecQ Helicases Iron-Binding Proteins Carrier Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment23

Pedigree Chromosome Mapping DNA Mutational Analysis Crosses, Genetic Heterozygote Detection Genetic Complementation Test Models, Genetic Genetic Testing Sequence Analysis, DNA Polymerase Chain Reaction Electroretinography Pigmentation Genetic Association Studies Facies Inbreeding Disease Models, Animal Amino Acid Substitution Cloning, Molecular Physical Chromosome Mapping Sequence Alignment Case-Control Studies Prenatal Diagnosis Mutagenesis, Insertional

Psychiatry and Psychology4

Intellectual Disability Family Nuclear Family Siblings

Phenomena and Processes72

Genes, Recessive Consanguinity Mutation Homozygote Phenotype Genetic Linkage Genes, Dominant Heterozygote Alleles Mutation, Missense Lod Score Genes, Lethal Genotype Codon, Nonsense Base Sequence Haplotypes Exons Frameshift Mutation Genetic Markers Amino Acid Sequence Genetic Heterogeneity Exome Founder Effect Genetic Predisposition to Disease X Chromosome Microsatellite Repeats Point Mutation Chromosomes, Human, Pair 2 Gene Frequency Polymorphism, Single Nucleotide Polymorphism, Single-Stranded Conformational Polymorphism, Genetic Inheritance Patterns Suppression, Genetic Chromosomes, Human, Pair 1 Sequence Deletion Pigmentation Genes, Plant Penetrance Hair Color Sex Chromosome Aberrations Chromosomes, Human, Pair 16 Gene Deletion Mutagenesis Genetic Load Inbreeding Introns Chromosomes, Human, Pair 19 Sequence Homology, Amino Acid Amino Acid Substitution RNA Splice Sites Chromosomes, Human, Pair 6 Genes, Suppressor Genetic Variation Genes Diploidy Polymorphism, Restriction Fragment Length Chromosomes, Human, X Chromosomes, Human, Pair 5 Genetic Loci Chromosomes, Human, Pair 7 Recombination, Genetic Chromosomes, Human, Pair 3 Codon, Terminator Genes, Fungal Chromosomes, Human, Pair 11 Epistasis, Genetic Chromosomes, Human, Pair 9 Chromosome Aberrations Mosaicism Mutagenesis, Insertional Linkage Disequilibrium

Disciplines and Occupations1

Genetic Counseling

Anthropology, Education, Sociology and Social Phenomena3

Family Nuclear Family Siblings

Information Science3

Molecular Sequence Data Base Sequence Amino Acid Sequence

Named Groups5

Arabs Infant, Newborn Jews Asian Continental Ancestry Group Siblings

Health Care5

Family Health Genetic Testing Age of Onset Case-Control Studies Genetic Counseling

Geographicals6

Pakistan Tunisia Lebanon Syria 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 Homozygote Phenotype Polycystic Kidney, Autosomal Recessive Genetic Linkage Chromosome Mapping Genes, Dominant DNA Mutational Analysis Syndrome Heterozygote Alleles Retinitis Pigmentosa Mutation, Missense Lod Score Molecular Sequence Data Genes, Lethal Ichthyosis Abnormalities, Multiple Genotype Crosses, Genetic Codon, Nonsense Base Sequence Microcephaly Epidermolysis Bullosa Dystrophica Haplotypes Exons Deafness Hypotrichosis Frameshift Mutation Genetic Markers Amino Acid Sequence Intellectual Disability Heterozygote Detection Genetic Heterogeneity Ichthyosiform Erythroderma, Congenital Exome Founder Effect Family Health Pakistan Genetic Predisposition to Disease Genetic Complementation Test Hearing Loss, Sensorineural X Chromosome Microsatellite Repeats Osteochondrodysplasias Cerebellar Ataxia Ichthyosis, Lamellar Point Mutation Models, Genetic Dwarfism Genetic Diseases, Inborn Collagen Type VII Chromosomes, Human, Pair 2 Muscular Dystrophies Genetic Testing Gene Frequency Polymorphism, Single Nucleotide Bone Diseases, Developmental Epidermolysis Bullosa Polymorphism, Single-Stranded Conformational Polymorphism, Genetic Eye Diseases, Hereditary Inheritance Patterns Osteopetrosis Metabolism, Inborn Errors Sequence Analysis, DNA Mice, Mutant Strains Arabs Eye Proteins Suppression, Genetic Chromosomes, Human, Pair 1 Myotonia Congenita Polymerase Chain Reaction Age of Onset Charcot-Marie-Tooth Disease Sequence Deletion Hearing Loss Ectodermal Dysplasia Friedreich Ataxia Membrane Proteins Electroretinography Dysostoses Ethyl Methanesulfonate Infant, Newborn Chromosome Disorders Nails, Malformed Family Retinal Degeneration Pigmentation Albinism, Oculocutaneous Jews Microphthalmos Arthrogryposis Syndactyly Cutis Laxa Ethylnitrosourea Kidney Diseases, Cystic

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