Rare autosomal recessive disease. Medical search. Frequent questions

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Anatomy20

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

Organisms2

Mice, Knockout Mice, Mutant Strains

Diseases125

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

Chemicals and Drugs32

Codon, Nonsense RecQ Helicases Genetic Markers Fanconi Anemia Complementation Group Proteins 1-Acylglycerol-3-Phosphate O-Acyltransferase Receptor, Melanocortin, Type 2 Proteins Exodeoxyribonucleases Membrane Proteins Cystic Fibrosis Transmembrane Conductance Regulator RNA Splice Sites DNA Cell Cycle Proteins DNA-Binding Proteins Sitosterols Nuclear Proteins DNA Helicases Ataxia Telangiectasia Mutated Proteins Sarcoglycans Eye Proteins Survival of Motor Neuron 1 Protein RNA, Messenger SMN Complex Proteins Ubiquitin-Protein Ligases DNA Primers Cyclic Nucleotide Phosphodiesterases, Type 6 Nerve Tissue Proteins Iron-Binding Proteins Protein Tyrosine Phosphatases, Non-Receptor Survival of Motor Neuron 2 Protein Codon, Terminator Connexins

Analytical, Diagnostic and Therapeutic Techniques and Equipment18

Pedigree DNA Mutational Analysis Chromosome Mapping Heterozygote Detection Polymerase Chain Reaction Genetic Testing Sequence Analysis, DNA Facies Genetic Complementation Test Fatal Outcome Models, Genetic Disease Models, Animal Electroretinography Crosses, Genetic Prenatal Diagnosis Physical Chromosome Mapping Amino Acid Substitution Sequence Alignment

Psychiatry and Psychology4

Intellectual Disability Siblings Family Nuclear Family

Phenomena and Processes57

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

Disciplines and Occupations1

Genetic Counseling

Anthropology, Education, Sociology and Social Phenomena3

Siblings Family Nuclear Family

Information Science4

Molecular Sequence Data Base Sequence Amino Acid Sequence Fatal Outcome

Named Groups6

Arabs Jews Infant, Newborn Siblings Gypsies Asian Continental Ancestry Group

Health Care5

Genetic Testing Family Health Fatal Outcome Age of Onset Genetic Counseling

Geographicals7

Turkey Pakistan Tunisia Lebanon Morocco Israel Syria

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 Homozygote Syndrome Mutation Fanconi Anemia Cystinosis DNA Mutational Analysis Mutation, Missense Heterozygote Codon, Nonsense Familial Mediterranean Fever Lipoid Proteinosis of Urbach and Wiethe Frameshift Mutation Phenotype Abnormalities, Multiple Exons Genetic Linkage Ataxia Telangiectasia Werner Syndrome Arabs RecQ Helicases Chromosome Mapping Xeroderma Pigmentosum Molecular Sequence Data Jews Heterozygote Detection Base Sequence Mucolipidoses Spinal Muscular Atrophies of Childhood Alleles Haplotypes Alstrom Syndrome Friedreich Ataxia Hypotrichosis Papillon-Lefevre Disease Point Mutation Genotype Microcephaly Intellectual Disability Genetic Markers Zellweger Syndrome Fanconi Anemia Complementation Group Proteins Lod Score Osteochondrodysplasias Sequence Deletion Polycystic Kidney, Autosomal Recessive Polymerase Chain Reaction Cystic Fibrosis Rothmund-Thomson Syndrome 1-Acylglycerol-3-Phosphate O-Acyltransferase Infant, Newborn Amino Acid Sequence Porphyria, Erythropoietic Rare Diseases Retinitis Pigmentosa Genetic Testing Bardet-Biedl Syndrome Immunologic Deficiency Syndromes Hypopigmentation Metabolism, Inborn Errors Receptor, Melanocortin, Type 2 Sequence Analysis, DNA Fibroblasts Family Health Proteins Afibrinogenemia Genetic Diseases, Inborn Keratoderma, Palmoplantar Ellis-Van Creveld Syndrome Hyperoxaluria, Primary Facies Exodeoxyribonucleases Microsatellite Repeats Cockayne Syndrome Acrodermatitis Kidney Diseases, Cystic Membrane Proteins Craniofacial Abnormalities Chediak-Higashi Syndrome Cystic Fibrosis Transmembrane Conductance Regulator Genes, Dominant RNA Splice Sites Bloom Syndrome Genetic Complementation Test Polymorphism, Genetic Lipid Metabolism, Inborn Errors Chromosomes, Human, Pair 1 Exome DNA Cell Cycle Proteins DNA-Binding Proteins Fatal Outcome Adrenal Insufficiency Cell Line Pseudoxanthoma Elasticum Sitosterols Face Ichthyosis

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