Adrenoleukodystrophy 

Genes and Disease provides an introduction to the relationship between genetic factors and human disease with a summary of ~60 genetic diseases with links to related databases and organizations. National Library of Medicine (US), NCBI. national center for biotechnology information, ncbi, national library of medicine, nlm, national institutes of health, nih, bookshelf, free access, book, online, textbook, map viewer, entrez genomes, organism, chromosome map, sequence data, genetic factors, human disease

Adrenoleukodystrophy 

Genes and disease provides short descriptions of inherited disorders. It is hosted by the National Center for Biotechnology Information (NCBI), a division of the National Library of Medicine (NLM) at the National Institutes of Health (NIH). genetic disease, genetic disorder, inherited disease, metabolism, adrenoleukodystrophy, ALD, transporter protein, transport mechanisms, Lorenzo s oil

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

ACD/MPV - Genetics Home Reference 

alveolar capillary dysplasia with misalignment of pulmonary veins, Hypertension, Pulmonary, Lung Diseases, Respiratory Tract Diseases, alveolar capillary dysplasia with misalignment of pulmonary veins, Heart and circulation, Lungs and breathing, FOXF1, FOXF1 gene, ACD, ACDMPV, alveolar capillary dysplasia, congenital alveolar capillary dysplasia, familial persistent pulmonary hypertension of the newborn, misalignment of the pulmonary vessels, 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

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

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

Niemann-Pick disease 

Genes and disease provides short descriptions of inherited disorders. It is hosted by the National Center for Biotechnology Information (NCBI), a division of the National Library of Medicine (NLM) at the National Institutes of Health (NIH). genetic disease, genetic disorder, inherited disease, nervous system, Niemann-Pick disease, lysosomal storage disease

Maple syrup urine disease 

Genes and Disease provides an introduction to the relationship between genetic factors and human disease with a summary of ~60 genetic diseases with links to related databases and organizations. National Library of Medicine (US), NCBI. national center for biotechnology information, ncbi, national library of medicine, nlm, national institutes of health, nih, bookshelf, free access, book, online, textbook, map viewer, entrez genomes, organism, chromosome map, sequence data, genetic factors, human disease

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

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

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

Waardenberg syndrome 

Genes and disease provides short descriptions of inherited disorders. It is hosted by the National Center for Biotechnology Information (NCBI), a division of the National Library of Medicine (NLM) at the National Institutes of Health (NIH). genetic disease, genetic disorder, inherited disease, signal transduction, Waardenburg syndrome, deafness

Waardenburg syndrome - Genetics Home Reference 

Waardenburg syndrome, Abnormalities, Multiple, Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Waardenburg s Syndrome, Ear, nose, and throat, Eyes and vision, Skin, hair, and nails, Klein-Waardenburg syndrome, Waardenburg-Shah syndrome, EDN3, EDN3 gene, EDNRB, EDNRB gene, MITF, MITF gene, PAX3, PAX3 gene, SNAI2, SNAI2 gene, SOX10, SOX10 gene, Waardenburg s 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, heritable diseases, inherited diseases, family disorders

Trisomy 18 - Genetics Home Reference 

trisomy 18, Trisomy, Aneuploidy, Chromosome Aberrations, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Mutation, Variation (Genetics), Genetic Phenomena, Ploidies, trisomy 18, Bones, muscles, and connective tissues, Brain and nervous system, Eyes and vision, Heart and circulation, Lungs and breathing, Chromosomal imbalance syndrome pair 18 trisomy, Complete trisomy 18 syndrome, E3 Trisomy, Edwards Syndrome, Trisomy 16-18, Trisomy 18 syndrome, Trisomy E 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

Treacher Collins syndrome - Genetics Home Reference 

Treacher Collins syndrome, Craniofacial Dysostosis, Dysostoses, Bone Diseases, Developmental, Bone Diseases, Musculoskeletal Diseases, Craniofacial Abnormalities, Musculoskeletal Abnormalities, Abnormalities, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Mandibulofacial Dysostosis, Bones, muscles, and connective tissues, Ear, nose, and throat, Eyes and vision, Mouth and teeth, TCOF1, TCOF1 gene, Franceschetti-Zwahlen-Klein syndrome, Mandibulofacial dysostosis (MFD1), Treacher Collins-Franceschetti syndrome, zygoauromandibular dysplasia, 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

Tay-Sachs disease - Genetics Home Reference 

Tay-Sachs disease, Gangliosidoses GM2, Gangliosidoses, Sphingolipidoses, Lysosomal Storage Diseases, Nervous System, 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, Lipoidosis, Lipid Metabolism, Inborn Errors, Lysosomal Storage Diseases, Metabolic Diseases, Nutritional and Metabolic Diseases, Tay-Sachs Disease, Brain and nervous system, Food, nutrition, and metabolism, B1 variant, glycosphingolipid storage disease, HEXA, HEXA gene, B variant GM2 gangliosidosis, GM2 gangliosidosis type 1, HexA deficiency, Hexosaminidase A deficiency, Hexosaminidase alpha-subunit deficiency (variant B), Sphingolipidosis Tay-Sachs, TSD, 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

Stickler syndrome - Genetics Home Reference 

Stickler syndrome, Collagen Diseases, Connective Tissue Diseases, Skin and Connective Tissue Diseases, Stickler syndrome, Bones, muscles, and connective tissues, Ear, nose, and throat, Eyes and vision, Mouth and teeth, collagenopathy, Hereditary progressive arthro-ophthalmopathy, Stickler syndrome, beaded vitreous type, Stickler syndrome, COL11A1, Stickler syndrome, COL11A2, Stickler syndrome, COL2A1, Stickler syndrome, membranous vitreous type, Stickler syndrome, nonocular type, Stickler syndrome, type 1, Stickler syndrome, type 2, Stickler syndrome, type 3, COL11A1, COL11A1 gene, COL11A2, COL11A2 gene, COL2A1, COL2A1 gene, hereditary arthro-ophthalmo-dystrophy, Hereditary arthro-ophthalmopathy, Stickler dysplasia, 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

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

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

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

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

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

Retinoblastoma - Genetics Home Reference 

retinoblastoma, Neoplasms, Neuroepithelial, Neuroectodermal Tumors, Neoplasms, Germ Cell and Embryonal, Neoplasms by Histologic Type, Neoplasms, Neoplasms, Glandular and Epithelial, Neoplasms, Nerve Tissue, Retinal Neoplasms, Eye Neoplasms, Neoplasms by Site, Eye Diseases, Retinal Diseases, Retinoblastoma, Cancers, Eyes and vision, RB1, RB1 gene, Glioblastoma retinal, Glioma retinal, Neuroblastoma retinal, RB, 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, heritable diseases, inherited diseases

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

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

Niemann-Pick disease 

Genes and disease provides short descriptions of inherited disorders. It is hosted by the National Center for Biotechnology Information (NCBI), a division of the National Library of Medicine (NLM) at the National Institutes of Health (NIH). genetic disease, genetic disorder, inherited disease, nervous system, Niemann-Pick disease, lysosomal storage disease

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

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

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

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