Sickle cell disease - Genetics Home Reference 

sickle cell disease, Anemia, Hemolytic, Congenital, Anemia, Hemolytic, Anemia, Hematologic Diseases, Hemic and Lymphatic Diseases, Hemoglobinopathies, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Anemia, Sickle Cell, Blood/lymphatic system, HbSC disease, HbSS disease, hemoglobinopathy, Herrick s anemia, newborn screening, sickle cell anemia, HBB, HBB gene, HbS disease, Hemoglobin S Disease, SCD, Sickle cell disorders, Sickling disorder due to hemoglobin S, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine, Disease and Gene Association, congenital

Beta thalassemia - Genetics Home Reference 

beta thalassemia, Thalassemia, Anemia, Hemolytic, Congenital, Anemia, Hemolytic, Anemia, Hematologic Diseases, Hemic and Lymphatic Diseases, Hemoglobinopathies, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, beta-Thalassemia, Blood/lymphatic system, Cooley s anemia, hemoglobinopathy, thalassemia intermedia, thalassemia major, thalassemia minor, HBB, HBB gene, Erythroblastic Anemia, Mediterranean Anemia, thalassemia beta type, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine, Disease and Gene Association, congenital, heritable disorders

CHARGE syndrome - Genetics Home Reference 

CHARGE syndrome, Abnormalities, Multiple, Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, CHARGE syndrome, Brain and nervous system, Ear, nose, and throat, Eyes and vision, Heart and circulation, Reproductive system, CHD7, CHD7 gene, CHARGE acronym (Coloboma Heart defect Atresia choanae Retarded growth and development Genital hypoplasia Ear anomalies/deafness), CHARGE association, Hall-Hittner syndrome, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine, Disease and Gene Association, congenital, heritable disorders, inherited disorders

Hemophilia - Genetics Home Reference 

hemophilia, Hemorrhagic Disorders, Hematologic Diseases, Hemic and Lymphatic Diseases, Coagulation Protein Disorders, Blood Coagulation Disorders, Blood Coagulation Disorders, Inherited, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Diseases, X-Linked, hemophilia, Blood/lymphatic system, blood coagulation cascade, factor IX deficiency, factor VIII deficiency, hemophiliac, hemorrhagic disorder, F8, F8 gene, F9, F9 gene, Hemophilia familial, Hemophilia hereditary, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine

Sickle cell disease - Genetics Home Reference 

sickle cell disease, Anemia, Hemolytic, Congenital, Anemia, Hemolytic, Anemia, Hematologic Diseases, Hemic and Lymphatic Diseases, Hemoglobinopathies, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Anemia, Sickle Cell, Blood/lymphatic system, HbSC disease, HbSS disease, hemoglobinopathy, Herrick s anemia, newborn screening, sickle cell anemia, HBB, HBB gene, HbS disease, Hemoglobin S Disease, SCD, Sickle cell disorders, Sickling disorder due to hemoglobin S, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine, Disease and Gene Association, congenital

Beta thalassemia - Genetics Home Reference 

beta thalassemia, Thalassemia, Anemia, Hemolytic, Congenital, Anemia, Hemolytic, Anemia, Hematologic Diseases, Hemic and Lymphatic Diseases, Hemoglobinopathies, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, beta-Thalassemia, Blood/lymphatic system, Cooley s anemia, hemoglobinopathy, thalassemia intermedia, thalassemia major, thalassemia minor, HBB, HBB gene, Erythroblastic Anemia, Mediterranean Anemia, thalassemia beta type, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine, Disease and Gene Association, congenital, heritable disorders

Achondroplasia - Genetics Home Reference 

achondroplasia, Dwarfism, Bone Diseases, Developmental, Bone Diseases, Musculoskeletal Diseases, Osteochondrodysplasias, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Achondroplasia, Bones, muscles, and connective tissues, rhizomelia, FGFR3, FGFR3 gene, ACH, Achondroplastic dwarfism, Chondrodystrophia fetalis, Chondrodystrophy syndrome, Congenital osteosclerosis, Dwarf achondroplastic, Osteosclerosis congenita, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine, Disease and Gene Association, congenital, heritable disorders, inherited disorders

Osteogenesis imperfecta - Genetics Home Reference 

osteogenesis imperfecta, Osteochondrodysplasias, Bone Diseases, Developmental, Bone Diseases, Musculoskeletal Diseases, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Collagen Diseases, Connective Tissue Diseases, Skin and Connective Tissue Diseases, Osteogenesis Imperfecta, Bones, muscles, and connective tissues, Ear, nose, and throat, Eyes and vision, Fragilitas ossium congenita, Osteogenesis imperfecta congenita, Osteogenesis imperfecta letalis, Osteogenesis imperfecta tarda, Osteogenesis imperfecta Vrolik type, Osteogenesis imperfecta with normal sclerae, Osteopsathyrosis idiopathica, Trias fragilitis ossium, Van der Hoeve syndrome, wormian bones, COL1A1, COL1A1 gene, COL1A2, COL1A2 gene, CRTAP, CRTAP gene, LEPRE1, LEPRE1 gene, Brittle bone disease, Fragilitas ossium, OI, Vrolik disease, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders

Hemophilia - Genetics Home Reference 

hemophilia, Hemorrhagic Disorders, Hematologic Diseases, Hemic and Lymphatic Diseases, Coagulation Protein Disorders, Blood Coagulation Disorders, Blood Coagulation Disorders, Inherited, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Diseases, X-Linked, hemophilia, Blood/lymphatic system, blood coagulation cascade, factor IX deficiency, factor VIII deficiency, hemophiliac, hemorrhagic disorder, F8, F8 gene, F9, F9 gene, Hemophilia familial, Hemophilia hereditary, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine

Hypohidrotic ectodermal dysplasia - Genetics Home Reference 

hypohidrotic ectodermal dysplasia, Ectodermal Dysplasia, Abnormalities, Multiple, Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Sex Chromosome Disorders, Chromosome Disorders, Skin Abnormalities, Genetic Diseases, Inborn, Skin Diseases, Genetic, Skin Diseases, Skin and Connective Tissue Diseases, hypohidrotic ectodermal dysplasia, Mouth and teeth, Skin, hair, and nails, anhidrotic, saddle nose deformity, EDA, EDA gene, EDAR, EDAR gene, EDARADD, EDARADD gene, Anhidrotic Ectodermal Dysplasia, Christ-Siemens-Touraine Syndrome, CST syndrome, HED, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome

Ehlers-Danlos syndrome - Genetics Home Reference 

Ehlers-Danlos syndrome, Vascular Hemostatic Disorders, Vascular Diseases, Cardiovascular Diseases, Hemorrhagic Disorders, Hematologic Diseases, Hemic and Lymphatic Diseases, Skin Abnormalities, Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Skin Diseases, Genetic, Genetic Diseases, Inborn, Collagen Diseases, Connective Tissue Diseases, Skin and Connective Tissue Diseases, Skin Diseases, Ehlers-Danlos Syndrome, Bones, muscles, and connective tissues, Digestive system, Eyes and vision, Heart and circulation, Skin, hair, and nails, Arthrochalasis multiplex congenita, Classical Ehlers-Danlos syndrome, Dermatosparaxis, Ehlers-Danlos syndrome, arterial type, Ehlers-Danlos syndrome, arterial-ecchymotic type, Ehlers-Danlos syndrome, gravis type, Ehlers-Danlos syndrome, hypermobile form, Ehlers-Danlos syndrome, kyphoscoliotic type, Ehlers-Danlos syndrome, mitis type, Ehlers-Danlos syndrome, ocular-scoliotic type, Lysyl-hydroxylase deficiency, Nevo syndrome, Sack-Barabas syndrome, ADAMTS2, ADAMTS2 gene, COL1A1

Epidermolysis bullosa simplex - Genetics Home Reference 

epidermolysis bullosa simplex, Epidermolysis Bullosa, Skin Abnormalities, Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Skin Diseases, Genetic, Genetic Diseases, Inborn, Skin Diseases, Skin and Connective Tissue Diseases, Skin Diseases, Vesiculobullous, Epidermolysis Bullosa Simplex, Skin, hair, and nails, EBS-DM, EBS-K, EBS-MP, EBS-WC, hepatiform, KRT14, KRT14 gene, KRT5, KRT5 gene, PLEC1, PLEC1 gene, Epidermolysis Bullosa Simplex Generalized, Epidermolysis Bullosa Simplex Localized, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine

Achondroplasia - Genetics Home Reference 

achondroplasia, Dwarfism, Bone Diseases, Developmental, Bone Diseases, Musculoskeletal Diseases, Osteochondrodysplasias, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Achondroplasia, Bones, muscles, and connective tissues, rhizomelia, FGFR3, FGFR3 gene, ACH, Achondroplastic dwarfism, Chondrodystrophia fetalis, Chondrodystrophy syndrome, Congenital osteosclerosis, Dwarf achondroplastic, Osteosclerosis congenita, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine, Disease and Gene Association, congenital, heritable disorders, inherited disorders

Androgen insensitivity syndrome - Genetics Home Reference 

androgen insensitivity syndrome, Pseudohermaphroditism, Hermaphroditism, Sex Differentiation Disorders, Urogenital Abnormalities, Urogenital Diseases, Urologic and Male Genital Diseases, Genital Diseases, Female, Female Genital Diseases and Pregnancy Complications, Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Diseases, X-Linked, Genetic Diseases, Inborn, Gonadal Disorders, Endocrine System Diseases, Androgen-Insensitivity Syndrome, Endocrine system (hormones), Reproductive system, ambiguous genitalia, axillary hair, CAIS, disorder of sex development, gynecomastia, hermaphrodite, hermaphroditism, intersex, MAIS, PAIS, Swyer syndrome, TFM, undermasculinization, undervirilized male syndrome, AR, AR gene, AIS, Androgen receptor deficiency, Androgen resistance syndrome, AR deficiency, DHTR deficiency, Dihydrotestosterone receptor deficiency, Testicular feminization, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes

Apert syndrome - Genetics Home Reference 

Apert syndrome, Acrocephalosyndactylia, Craniosynostoses, Synostosis, Dysostoses, Bone Diseases, Developmental, Bone Diseases, Musculoskeletal Diseases, Syndactyly, Craniofacial Abnormalities, Musculoskeletal Abnormalities, Limb Deformities, Congenital, Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Apert syndrome, Bones, muscles, and connective tissues, Mouth and teeth, acrobrachycephaly, ocular proptosis, polydactyly, turribrachycephaly, FGFR2, FGFR2 gene, Acrocephalosyndactyly (Apert), National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine

Ataxia-telangiectasia - Genetics Home Reference 

ataxia-telangiectasia, Spinocerebellar Ataxias, Cerebellar Ataxia, Cerebellar Diseases, Brain Diseases, Central Nervous System Diseases, Nervous System Diseases, Neurocutaneous Syndromes, Ataxia, Dyskinesias, Neurologic Manifestations, Telangiectasis, Vascular Diseases, Cardiovascular Diseases, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA Repair-Deficiency Disorders, Metabolic Diseases, Nutritional and Metabolic Diseases, Immunologic Deficiency Syndromes, Immune System Diseases, Ataxia Telangiectasia, Blood/lymphatic system, Brain and nervous system, Immune system, Skin, hair, and nails, chromosomal breakage, neurodegenerative, ATM, ATM gene, A-T, Ataxia Telangiectasia Syndrome, ATM, Louis-Bar syndrome, Telangiectasia cerebello-oculocutaneous, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary

Canavan disease - Genetics Home Reference 

Canavan disease, Hereditary Central Nervous System Demyelinating Diseases, Demyelinating Diseases, Nervous System Diseases, Heredodegenerative Disorders, Nervous System, Neurodegenerative Diseases, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Canavan Disease, Brain and nervous system, Food, nutrition, and metabolism, hypomyelination, ASPA, ASPA gene, ACY2 deficiency, Aminoacylase 2 deficiency, Aspa deficiency, Aspartoacylase deficiency, Asp deficiency, Canavan-Van Bogaert-Bertrand disease, Leukodystrophy spongiform, Spongy degeneration of central nervous system, Spongy degeneration of the brain, Spongy degeneration of white matter in infancy, Van Bogaert-Bertrand syndrome, Von Bogaert-Bertrand disease, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference

Cri-du-chat syndrome - Genetics Home Reference 

cri-du-chat syndrome, Mental Retardation, Neurobehavioral Manifestations, Neurologic Manifestations, Nervous System Diseases, Abnormalities, Multiple, Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Chromosome Disorders, Genetic Diseases, Inborn, Cri-du-Chat Syndrome, Brain and nervous system, Heart and circulation, CTNND2, CTNND2 gene, Cat cry syndrome, Chromosome 5p- Syndrome, 5p Deletion Syndrome, monosomy 5p, 5p- Syndrome, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine, Disease and Gene Association, congenital, heritable disorders, inherited disorders

Hypohidrotic ectodermal dysplasia - Genetics Home Reference 

hypohidrotic ectodermal dysplasia, Ectodermal Dysplasia, Abnormalities, Multiple, Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Sex Chromosome Disorders, Chromosome Disorders, Skin Abnormalities, Genetic Diseases, Inborn, Skin Diseases, Genetic, Skin Diseases, Skin and Connective Tissue Diseases, hypohidrotic ectodermal dysplasia, Mouth and teeth, Skin, hair, and nails, anhidrotic, saddle nose deformity, EDA, EDA gene, EDAR, EDAR gene, EDARADD, EDARADD gene, Anhidrotic Ectodermal Dysplasia, Christ-Siemens-Touraine Syndrome, CST syndrome, HED, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome

Galactosemia - Genetics Home Reference 

galactosemia, Brain Diseases, Metabolic, Inborn, Brain Diseases, Metabolic, Brain Diseases, Central Nervous System Diseases, Nervous System Diseases, Metabolism, Inborn Errors, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Carbohydrate Metabolism, Inborn Errors, Metabolic Diseases, Nutritional and Metabolic Diseases, Galactosemias, Brain and nervous system, Digestive system, Eyes and vision, Food, nutrition, and metabolism, Newborn screening, GALE, GALE gene, GALK1, GALK1 gene, GALT, GALT gene, Classic Galactosemia, Epimerase deficiency galactosemia, Galactokinase Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease, Galactose epimerase deficiency, GALT Deficiency, UDP-Galactose-4-Epimerase Deficiency Disease, UDPglucose 4-Epimerase Deficiency Disease, UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency, UTP Hexose-1-Phosphate Uridylyltransferase Deficiency, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems

Hemophilia - Genetics Home Reference 

hemophilia, Hemorrhagic Disorders, Hematologic Diseases, Hemic and Lymphatic Diseases, Coagulation Protein Disorders, Blood Coagulation Disorders, Blood Coagulation Disorders, Inherited, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Diseases, X-Linked, hemophilia, Blood/lymphatic system, blood coagulation cascade, factor IX deficiency, factor VIII deficiency, hemophiliac, hemorrhagic disorder, F8, F8 gene, F9, F9 gene, Hemophilia familial, Hemophilia hereditary, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine

Hypophosphatasia - Genetics Home Reference 

hypophosphatasia, Metal Metabolism, Inborn Errors, Metabolism, Inborn Errors, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Metabolic Diseases, Nutritional and Metabolic Diseases, Hypophosphatasia, Bones, muscles, and connective tissues, Food, nutrition, and metabolism, Mouth and teeth, cementum agenesis, rachitis, Rathbun, ALPL, ALPL gene, Deficiency of alkaline phosphatase, Phosphoethanolaminuria, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine, Disease and Gene Association, congenital, heritable disorders, inherited disorders

Nail-patella syndrome - Genetics Home Reference 

nail-patella syndrome, Joint Diseases, Musculoskeletal Diseases, Abnormalities, Multiple, Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Genetic Diseases, Inborn, Nail Diseases, Skin Diseases, Skin and Connective Tissue Diseases, Nail-Patella Syndrome, Bones, muscles, and connective tissues, Skin, hair, and nails, LMX1B, LMX1B gene, Fong disease, Hereditary onycho-osteodysplasia, Hereditary Osteo-Onychodysplasias, Osterreicher Syndrome, Pelvic Horn Syndrome, Turner-Kieser Syndrome, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine

Niemann-Pick disease - Genetics Home Reference 

Niemann-Pick disease, Sphingolipidoses, Lysosomal Storage Diseases, Nervous System, Brain Diseases, Metabolic, Inborn, Brain Diseases, Metabolic, Brain Diseases, Central Nervous System Diseases, Nervous System Diseases, Histiocytosis, Non-Langerhans-Cell, Histiocytosis, Reticuloendotheliosis, Lymphatic Diseases, Hemic and Lymphatic Diseases, Metabolism, Inborn Errors, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Lipoidosis, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Metabolic Diseases, Nutritional and Metabolic Diseases, Niemann-Pick Diseases, Bones, muscles, and connective tissues, Brain and nervous system, Digestive system, Lungs and breathing, lipid metabolism disorder, lysosomal storage disease, lysosomal storage disorder, NPC1, NPC1 gene, NPC2, NPC2 gene, SMPD1, SMPD1 gene, Classical Niemann-Pick Disease, DAF syndrome, lipoid histiocytosis (classical phosphatide), Neuronal Cholesterol Lipidosis, NPD, Ophthalmoplegia Supraoptic Vertical, Sphingomyelinase deficiency

Osteogenesis imperfecta - Genetics Home Reference 

osteogenesis imperfecta, Osteochondrodysplasias, Bone Diseases, Developmental, Bone Diseases, Musculoskeletal Diseases, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Collagen Diseases, Connective Tissue Diseases, Skin and Connective Tissue Diseases, Osteogenesis Imperfecta, Bones, muscles, and connective tissues, Ear, nose, and throat, Eyes and vision, Fragilitas ossium congenita, Osteogenesis imperfecta congenita, Osteogenesis imperfecta letalis, Osteogenesis imperfecta tarda, Osteogenesis imperfecta Vrolik type, Osteogenesis imperfecta with normal sclerae, Osteopsathyrosis idiopathica, Trias fragilitis ossium, Van der Hoeve syndrome, wormian bones, COL1A1, COL1A1 gene, COL1A2, COL1A2 gene, CRTAP, CRTAP gene, LEPRE1, LEPRE1 gene, Brittle bone disease, Fragilitas ossium, OI, Vrolik disease, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders

Hutchinson-Gilford progeria syndrome - Genetics Home Reference 

Hutchinson-Gilford progeria syndrome, Metabolism, Inborn Errors, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Metabolic Diseases, Nutritional and Metabolic Diseases, Progeria, Bones, muscles, and connective tissues, Food, nutrition, and metabolism, Heart and circulation, Skin, hair, and nails, laminopathy, progeroid, LMNA, LMNA gene, HGPS, Hutchinson-Gilford Syndrome, Progeria, Progeria of childhood, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine, Disease and Gene Association, congenital, heritable disorders, inherited disorders

Rett syndrome - Genetics Home Reference 

Rett syndrome, Heredodegenerative Disorders, Nervous System, Neurodegenerative Diseases, Nervous System Diseases, Mental Retardation, X-Linked, Mental Retardation, Neurobehavioral Manifestations, Neurologic Manifestations, Genetic Diseases, X-Linked, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Child Development Disorders, Pervasive, Mental Disorders Diagnosed in Childhood, Mental Disorders, Rett Syndrome, Brain and nervous system, Mental health and behavior, 47, XYY, autism spectrum disorder, Hanefeld variant, preserved speech variant, CDKL5, CDKL5 gene, MECP2, MECP2 gene, Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome, Cerebroatrophic Hyperammonemia, Rett s Syndrome, RTS, RTT, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health

Rubinstein-Taybi syndrome - Genetics Home Reference 

Rubinstein-Taybi syndrome, Dysostoses, Bone Diseases, Developmental, Bone Diseases, Musculoskeletal Diseases, Craniofacial Abnormalities, Musculoskeletal Abnormalities, Mental Retardation, Neurobehavioral Manifestations, Neurologic Manifestations, Nervous System Diseases, Abnormalities, Multiple, Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Chromosome Disorders, Genetic Diseases, Inborn, Rubinstein-Taybi Syndrome, Bones, muscles, and connective tissues, Brain and nervous system, Cancers, Eyes and vision, Heart and circulation, Kidneys and urinary system, Mouth and teeth, 16p13.3 deletion syndrome, contiguous gene syndrome, CREBBP, CREBBP gene, EP300, EP300 gene, Broad Thumb-Hallux Syndrome, RSTS, RTS, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health

Shwachman-Diamond syndrome - Genetics Home Reference 

Shwachman-Diamond syndrome, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Shwachman-Diamond syndrome, Bones, muscles, and connective tissues, Food, nutrition, and metabolism, exocrine pancreas deficiency, metaphyseal dysostosis, SBDS, SBDS gene, Congenital Lipomatosis of Pancreas, Metaphyseal chondrodysplasia Shwachman type, SDS, Shwachman-Bodian-Diamond syndrome, Shwachman-Bodian syndrome, Shwachman-Diamond-Oski Syndrome, Shwachman syndrome, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine, Disease and Gene Association, congenital

Sickle cell disease - Genetics Home Reference 

sickle cell disease, Anemia, Hemolytic, Congenital, Anemia, Hemolytic, Anemia, Hematologic Diseases, Hemic and Lymphatic Diseases, Hemoglobinopathies, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Anemia, Sickle Cell, Blood/lymphatic system, HbSC disease, HbSS disease, hemoglobinopathy, Herrick s anemia, newborn screening, sickle cell anemia, HBB, HBB gene, HbS disease, Hemoglobin S Disease, SCD, Sickle cell disorders, Sickling disorder due to hemoglobin S, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine, Disease and Gene Association, congenital

Smith-Magenis syndrome - Genetics Home Reference 

Smith-Magenis syndrome, Abnormalities, Multiple, Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Smith-Magenis syndrome, Bones, muscles, and connective tissues, Brain and nervous system, Mental health and behavior, contiguous gene deletion syndrome, del 17p11.2, del(17)(p11.2), microdeletion, RAI1, RAI1 gene, chromosome 17p deletion syndrome, deletion 17p syndrome, 17p11.2 monosomy, partial monosomy 17p, SMS, 17p- syndrome, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling, gene testing, genome, hereditary family history, future of medicine, Disease and Gene Association, congenital, heritable disorders, inherited disorders

Tay-Sachs disease - Genetics Home Reference 

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Treacher Collins syndrome - Genetics Home Reference 

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Waardenburg syndrome - Genetics Home Reference 

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Rett syndrome - Genetics Home Reference 

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Galactosemia - Genetics Home Reference 

galactosemia, Brain Diseases, Metabolic, Inborn, Brain Diseases, Metabolic, Brain Diseases, Central Nervous System Diseases, Nervous System Diseases, Metabolism, Inborn Errors, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Carbohydrate Metabolism, Inborn Errors, Metabolic Diseases, Nutritional and Metabolic Diseases, Galactosemias, Brain and nervous system, Digestive system, Eyes and vision, Food, nutrition, and metabolism, Newborn screening, GALE, GALE gene, GALK1, GALK1 gene, GALT, GALT gene, Classic Galactosemia, Epimerase deficiency galactosemia, Galactokinase Deficiency Disease, Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease, Galactose epimerase deficiency, GALT Deficiency, UDP-Galactose-4-Epimerase Deficiency Disease, UDPglucose 4-Epimerase Deficiency Disease, UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency, UTP Hexose-1-Phosphate Uridylyltransferase Deficiency, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems

Maple syrup urine disease - Genetics Home Reference 

maple syrup urine disease, Brain Diseases, Metabolic, Inborn, Brain Diseases, Metabolic, Brain Diseases, Central Nervous System Diseases, Nervous System Diseases, Amino Acid Metabolism, Inborn Errors, Metabolism, Inborn Errors, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Metabolic Diseases, Nutritional and Metabolic Diseases, Maple Syrup Urine Disease, Brain and nervous system, Food, nutrition, and metabolism, amino acid metabolism, newborn screening, organic acidemia, BCKDHA, BCKDHA gene, BCKDHB, BCKDHB gene, DBT, DBT gene, DLD, DLD gene, BCKD deficiency, Branched-chain alpha-keto acid dehydrogenase deficiency, Branched-Chain Ketoaciduria, Ketoacidemia, MSUD, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine

Niemann-Pick disease - Genetics Home Reference 

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Ataxia-telangiectasia - Genetics Home Reference 

ataxia-telangiectasia, Spinocerebellar Ataxias, Cerebellar Ataxia, Cerebellar Diseases, Brain Diseases, Central Nervous System Diseases, Nervous System Diseases, Neurocutaneous Syndromes, Ataxia, Dyskinesias, Neurologic Manifestations, Telangiectasis, Vascular Diseases, Cardiovascular Diseases, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, DNA Repair-Deficiency Disorders, Metabolic Diseases, Nutritional and Metabolic Diseases, Immunologic Deficiency Syndromes, Immune System Diseases, Ataxia Telangiectasia, Blood/lymphatic system, Brain and nervous system, Immune system, Skin, hair, and nails, chromosomal breakage, neurodegenerative, ATM, ATM gene, A-T, Ataxia Telangiectasia Syndrome, ATM, Louis-Bar syndrome, Telangiectasia cerebello-oculocutaneous, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary

Alpha-1 antitrypsin deficiency - Genetics Home Reference 

alpha-1 antitrypsin deficiency, Genetic Diseases, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Subcutaneous Emphysema, Emphysema, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Liver Diseases, Digestive System Diseases, Lung Diseases, Respiratory Tract Diseases, alpha 1-Antitrypsin Deficiency, Digestive system, Lungs and breathing, chronic obstructive pulmonary disease, COPD, serpinopathy, SERPINA1, SERPINA1 gene, AAT, AATD, alpha-1 protease inhibitor deficiency, alpha-1 related emphysema, genetic emphysema, hereditary pulmonary emphysema, inherited emphysema, National Library of Medicine, NLM, National Institutes of Health, NIH, health problem, health problems, disease, diseases, human genetics, gene, genes, genetic disease, genetic conditions, genetic disorders, medical genetics, genetics education, genetics glossary, gene reference, genetics reference, human genetic health, genomic medicine, molecular medicine, genetic testing, genomic medicine, gene therapy, pharmacogenomics, genetic counseling, counseling