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

AICARDI SYNDROME: Contact a Family - for families with disabled children: information 

Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. medical conditions information, chromosomes disorders, medical symptoms, a list of inherited diseases, medical dictionary, pregnancy, medical info, health, parent, medical information, human genetics, rare diseases, kids, metabolic syndrome, information about medical conditions, children physical disabilities, medical diagnosis, special education inclusion, grants for disabled children, health information, statement of special educational needs uk, inherited genetic diseases, disabled children, children with disabilities, disabled, children, medical condition, medical, medicine, disable, disability, illness, life-threatening, paediatric, pediatric, birth, parents, child, sibling, caring, carer, care, support, self-help, therapy, Contact a Family Directory, CaF, contact, family, families, unique, special needs, Special Educational Needs, SEN, inclusion, diagnosis, undiagnosed, diagnose, hospital, hospice, doctor, patient, condition, genetic condition, genes, genetic, defect, inherited, inheritance, hereditary, autosomal, dominant, recessive, x-linked, mitochondrial, metabolic condition, metabolic, chromosome disorder, chromosome, disorder, linking, support groups, development, mutual support, network, welfare, trust, foundation, not-for-profit, voluntary sector, donation, donate, fund, respite care, respite, mental, physical, handicap, handicapped, help, advice, City Road, London, physical disabilities

Thrombocytopenia Absent Radius Syndrome 

Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital). It is characterized by low levels of platelets in the blood (thrombocytopenia) and absence (aplasia) of the long, thin bones of the forearms (radi Blood and lymph, Bones, joints, and muscles, Genes and chromosomes, Genetic conditions, Radial Aplasia-Amegakaryocytic Thrombocytopenia, Radial Aplasia-Thrombocytopenia Syndrome, TAR Syndrome, Thrombocytopenia-Absent Radii Syndrome, Birth Defect, birth defects, congenital anomaly, congenital defect, congenital disease, congenital disorder, genetic condition, genetic counseling, genetic counselling, genetic defect, genetic disease, genetic disorder, hereditary disorder, inherited diseases, skeletal dysplasia, thrombocytopenia-absent radius (TAR) syndrome

Niemann Pick Disease 

Niemann-Pick disease (NPD) is a group of rare inherited disorders of fat metabolism. At least five types of Niemann-Pick disease have been identified (NPD types A, B, C, D, and E). Symptoms of types A and B occur as a result of a deficiency of the en Blood and lymph, Brain and nerves, Genes and chromosomes, Genetic conditions, DAF syndrome, juvenile dystonic lipidosis, lipid histiocytosis, lipidosis, sphingomyelin, NPD, sphingomyelinase deficiency, brain disorder, disorders affecting metabolism, genetic condition, genetic counseling, genetic counselling, genetic disease, genetic disorder, hereditary disorder, inborn error of metabolism, inherited diseases, metabolic disorders, Niemann-Pick disease

Marfan Syndrome Causes, Diagnosis, Symptoms, and Treatment on MedicineNet.com 

Read about Marfan syndrome, a hereditary condition affecting connective tissue. A person with Marfan syndrome may exhibit the following symptoms and characteristics: dislocation of one or both lenses of the eye; a protruding or indented breastbone; scoliosis; flat feet; aortic dilatation; dural ectasia; stretch marks; hernia; and lung collapse. Though there is no cure for Marfan syndrome, there are treatments that can minimize and sometimes prevent some complications. Marfan syndrome, causes, diagnosis, symptoms, treatment, characteristics, signs, Marfan, connective tissue disorder, connective tissue disease, inherited disease, genetic disorder, inherited defect, genetic disease, inherited disorder, genetic defect, affect, cure

Blue Rubber Bleb Nevus Syndrome 

Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel (vascular) disorder that affects the skin and internal organs of the body. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth or Blood and lymph, Genetic conditions, Bean Syndrome, Birth Defect, birth defects, blood vessel disease, blue rubber bleb nevus, BRBNS, congenital anomaly, congenital defect, genetic condition, genetic counseling, genetic counselling, genetic defect, genetic disease, genetic disorder, hereditary disorder, inherited diseases, vascular disorder

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

Blue Rubber Bleb Nevus Syndrome 

Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel (vascular) disorder that affects the skin and internal organs of the body. Multiple distinctive skin lesions are usually characteristic of this disorder and are often present at birth or Blood and lymph, Genetic conditions, Bean Syndrome, Birth Defect, birth defects, blood vessel disease, blue rubber bleb nevus, BRBNS, congenital anomaly, congenital defect, genetic condition, genetic counseling, genetic counselling, genetic defect, genetic disease, genetic disorder, hereditary disorder, inherited diseases, vascular disorder

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

Orphanet: Alpha 1 antitrypsin deficiency 

The portal for rare diseases and orphan drugs" Orphanet, rare disease, rare diseases, orphan drug, orphan drugs, genetic disease, genetic diseases, rare disorder, rare 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

Leukodystrophy 

Leukodystrophies are a group of very rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal develo Brain and nerves, Genes and chromosomes, Genetic conditions, disorders affecting metabolism, genetic condition, genetic counseling, genetic counselling, genetic disease, genetic disorder, hereditary disorder, inherited diseases, leukodystrophies, metabolic disorders, nervous system problem, nervous system problems, neurologic problem, neurological disorder, neurological problem

Ataxia-Telangiectasia Society 

The A-T Society is a self-help group of families who have children with A-T. The objective of the A-T Society is to alliviate the distress and suffering that A-T causes. ataxia, ataxia-telangiectasia, telangiectasia, A-T, ataxia-telangiectasia society, A-T Society, disabling genetic disease, genetics, wheelchair, grants, neurological, neurology, leukaema, cancer, pneumonia, lymphoma, children, child, mobiltiy, funding, research, support

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

eMedicine - Ataxia-telangiectasia : Article by Andrew A Dahl 

Ataxia-telangiectasia (AT) is a genetic disease characterized by progressive cerebellar ataxia, oculocutaneous telangiec AT, Louis-Bar syndrome, cerebellar ataxia, oculocutaneous telangiectasia, Boder-Sedgwick syndrome

AICARDI SYNDROME: Contact a Family - for families with disabled children: information 

Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. medical conditions information, chromosomes disorders, medical symptoms, a list of inherited diseases, medical dictionary, pregnancy, medical info, health, parent, medical information, human genetics, rare diseases, kids, metabolic syndrome, information about medical conditions, children physical disabilities, medical diagnosis, special education inclusion, grants for disabled children, health information, statement of special educational needs uk, inherited genetic diseases, disabled children, children with disabilities, disabled, children, medical condition, medical, medicine, disable, disability, illness, life-threatening, paediatric, pediatric, birth, parents, child, sibling, caring, carer, care, support, self-help, therapy, Contact a Family Directory, CaF, contact, family, families, unique, special needs, Special Educational Needs, SEN, inclusion, diagnosis, undiagnosed, diagnose, hospital, hospice, doctor, patient, condition, genetic condition, genes, genetic, defect, inherited, inheritance, hereditary, autosomal, dominant, recessive, x-linked, mitochondrial, metabolic condition, metabolic, chromosome disorder, chromosome, disorder, linking, support groups, development, mutual support, network, welfare, trust, foundation, not-for-profit, voluntary sector, donation, donate, fund, respite care, respite, mental, physical, handicap, handicapped, help, advice, City Road, London, physical disabilities

UREA CYCLE DISORDERS: Contact a Family - for families with disabled children: informa 

Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. medical conditions information, chromosomes disorders, medical symptoms, a list of inherited diseases, medical dictionary, pregnancy, medical info, health, parent, medical information, human genetics, rare diseases, kids, metabolic syndrome, information about medical conditions, children physical disabilities, medical diagnosis, special education inclusion, grants for disabled children, health information, statement of special educational needs uk, inherited genetic diseases, disabled children, children with disabilities, disabled, children, medical condition, medical, medicine, disable, disability, illness, life-threatening, paediatric, pediatric, birth, parents, child, sibling, caring, carer, care, support, self-help, therapy, Contact a Family Directory, CaF, contact, family, families, unique, special needs, Special Educational Needs, SEN, inclusion, diagnosis, undiagnosed, diagnose, hospital, hospice, doctor, patient, condition, genetic condition, genes, genetic, defect, inherited, inheritance, hereditary, autosomal, dominant, recessive, x-linked, mitochondrial, metabolic condition, metabolic, chromosome disorder, chromosome, disorder, linking, support groups, development, mutual support, network, welfare, trust, foundation, not-for-profit, voluntary sector, donation, donate, fund, respite care, respite, mental, physical, handicap, handicapped, help, advice, City Road, London, physical disabilities

Niemann Pick Disease 

Niemann-Pick disease (NPD) is a group of rare inherited disorders of fat metabolism. At least five types of Niemann-Pick disease have been identified (NPD types A, B, C, D, and E). Symptoms of types A and B occur as a result of a deficiency of the en Blood and lymph, Brain and nerves, Genes and chromosomes, Genetic conditions, DAF syndrome, juvenile dystonic lipidosis, lipid histiocytosis, lipidosis, sphingomyelin, NPD, sphingomyelinase deficiency, brain disorder, disorders affecting metabolism, genetic condition, genetic counseling, genetic counselling, genetic disease, genetic disorder, hereditary disorder, inborn error of metabolism, inherited diseases, metabolic disorders, Niemann-Pick disease

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

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 Test 

A galactosemia test is a blood or urine test that checks for three enzymes that are needed to change galactose, a sugar that is found in milk and milk products, into glucose, a sugar that your body uses for energy. " birth defects testing, blood chemistry, galactose-1-phosphate uridyltransferase measurement, galactosemia, galactosemia testing, GALT, genetic condition, genetic conditions, genetic disease, genetic diseases, genetic disorder, genetic disorders, genetic d"

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

healthfinder.gov — Acid Maltase Deficiency Association - AMDA 

The AMDA, Acid Maltase Deficiency Association, was formed to assist in funding research and to promote public awareness of Acid Maltase Deficiency, a rare genetic disease. It is also known as Pompe s Disease. Genetics, Glycogen Storage Disease, Pompe s Disease, Rare Diseases

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

WAARDENBURG SYNDROME : Contact a Family - for families with disabled children: inform 

Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. medical conditions information, chromosomes disorders, medical symptoms, a list of inherited diseases, medical dictionary, pregnancy, medical info, health, parent, medical information, human genetics, rare diseases, kids, metabolic syndrome, information about medical conditions, children physical disabilities, medical diagnosis, special education inclusion, grants for disabled children, health information, statement of special educational needs uk, inherited genetic diseases, disabled children, children with disabilities, disabled, children, medical condition, medical, medicine, disable, disability, illness, life-threatening, paediatric, pediatric, birth, parents, child, sibling, caring, carer, care, support, self-help, therapy, Contact a Family Directory, CaF, contact, family, families, unique, special needs, Special Educational Needs, SEN, inclusion, diagnosis, undiagnosed, diagnose, hospital, hospice, doctor, patient, condition, genetic condition, genes, genetic, defect, inherited, inheritance, hereditary, autosomal, dominant, recessive, x-linked, mitochondrial, metabolic condition, metabolic, chromosome disorder, chromosome, disorder, linking, support groups, development, mutual support, network, welfare, trust, foundation, not-for-profit, voluntary sector, donation, donate, fund, respite care, respite, mental, physical, handicap, handicapped, help, advice, City Road, London, physical disabilities

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