| Description |
1 online resource (3 volumes) : illustrations (chiefly color) |
| Series |
Gale eBooks
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| Bibliography |
Includes bibliographical references and index. |
| Contents |
18p deletion syndrome -- 18q deletion syndrome -- 22q11.2 deletion syndrome -- 22q13 deletion syndrome -- 3-m syndrome -- 13-methylglutaconic aciduria type 2 -- 46,xx testicular disorder of sex development -- Aarskog syndrome -- Abetalipoproteinemia -- Absence of vas deferens -- Accutane embryopathy -- Aceruloplasminemia -- Achondrogenesis -- Achondroplasia -- ACHOO syndrome -- Acrocallosal syndrome (ACLS) Schinzel type-Joubert syndrome and related disorders -- Acromegaly -- Adams-Oliver syndrome -- Adelaide-type craniosynostosis -- Adenylosuccinate lyase deficiency -- Adrenoleukodystrophy -- Agenesis of the corpus callosum -- Aicardi syndrome -- Ala dehydratase deficiency -- Alagille syndrome -- Albinism -- Alcoholism -- Alexander disease -- Alkaptonuria -- Alpha thalassemia -- Alpha-1 antitrypsin deficiency -- Alpha-thalassemia x-linked intellectual disability syndrome -- Alport syndrome -- Alstrom syndrome -- Alzheimer's disease -- Ambiguous genitalia -- Amelia -- Amelogenesis imperfecta -- Amniocentesis -- Amyloidosis -- Amyotrophic lateral sclerosis -- Androgen insensitivity syndrome -- Anencephaly -- Angelman syndrome -- Ankylosing spondylitis -- Apert syndrome -- Arginase deficiency -- Arnold-Chiari malformation -- Arthrogryposis multiplex congenita -- Arthropathy-camptodactyly syndrome -- Asperger syndrome -- Asplenia -- Asthma -- Astrocytoma -- Ataxia-telangiectasia -- Attention deficit hyperactivity disorder -- Atypical Singleton-Merten syndrome -- Autism spectrum disorders -- Autosomal dominant multiple pterygium syndrome -- AUTS2 syndrome -- Bardet-biedl syndrome -- Beare-Stevenson cutis gyrata syndrome -- Beckwith-Wiedemann syndrome -- Beta thalassemia -- Bicuspid aortic valve -- Biotinidase deficiency -- Bipolar disorder -- Birt-Hogg-Dube syndrome -- Bloom syndrome -- Blue rubber bleb nevus syndrome -- Brachydactyly -- Branchiootonglyrenal (BOR) syndrome -- Breast cancer -- Bruton agammaglobulinemia -- Campomelic dysplasia -- Camurati-Engelmann disease -- Canavan disease -- Cancer -- Cancer genetics -- Cardiofaciocutaneous syndrome -- Carnitine palmitoyltransferase deficiency -- Carpenter syndrome -- Caudal dysplasia -- Cecr1 gene-recurrent fevers and strokes in children -- Celiac disease -- Cell-free DNA test -- Cenani-Lenz syndrome -- Central core disease -- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) -- Cerebral palsy -- Channelopathies -- Charcot-Marie-tooth disease -- Charge syndrome -- Chediak-Higashi syndrome -- Chondrodysplasia punctata -- Chondrosarcoma -- CHOPS syndrome -- Chorionic villus sampling -- Choroideremia -- Chromosomal abnormalities -- Chromosome -- Cleft lip and palate -- Cleidocranial dysplasia -- Clubfoot -- Cockayne syndrome -- CODAS syndrome -- Coffin-Lowry syndrome -- Coffin-Siris syndrome -- Cohen syndrome -- Cole-carpenter syndrome -- Colitis -- Collagenopathy, types II and XI -- Coloboma -- Color blindness -- Combined pituitary hormone deficiency -- Cone-rod dystrophy -- Congenital adrenal hyperplasia -- Congenital contractural arachnodactyly -- Congenital heart disease -- Congenital hypothyroid syndrome -- Congenital microcoria -- Conjoined twins -- Connectome genetics -- Corneal dystrophy -- Cornelia de lange syndrome -- Costello syndrome -- Cowden syndrome -- Crane-Heise syndrome -- Craniofacial macrosomia -- Craniosynostosis -- Creutzfeldt-Jakob disease -- Cri du chat syndrome -- CRISPR/Cas -- Crohn's disease -- Crouzon syndrome -- Crouzonodermoskeletal syndrome -- Cystic brosis -- Cystinosis -- Cystinuria -- Dandy-walker malformation -- De novo -- Ementia, hereditary forms -- Dent disease -- Dentatorubral-pallidoluysian atrophy -- Depression -- Diabetes -- Diamond-Blackfan anemia -- Diastrophic dysplasia -- DNA (deoxyribonucleic acid) -- Donohue syndrome -- Down syndrome -- Duane retraction syndrome -- Dubowitz syndrome -- Duchenne and Becker muscular dystrophy -- Dyschondrosteosis -- Dysplasia -- Dystonia -- Ectodermal dysplasia -- Ectrodactyly-ectodermal dysplasia-clefting syndrome -- Edwards syndrome -- Ehlers-Danlos syndrome -- Ellis-van Creveld syndrome -- Emery-Dreifuss muscular dystrophy -- Encephalocele -- Epidermolysis bullosa -- Epilepsy -- Erythropoietic porphyria -- Erythropoietic protoporphyria -- Essential hypertension -- Essential tremor -- Exome sequencing -- |
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Fabry disease -- Facioscapulohumeral muscular dystrophy -- Factor V Leiden thrombophilia -- Familial adenomatous polyposis -- Familial dysautonomia -- Familial idiopathic basal ganglia calcification -- Familial lipoprotein iipase deficiency -- Familial Mediterranean fever -- Fanconi anemia -- Fanconi-Bickel syndrome -- Feingold syndrome -- Fetal alcohol syndrome -- FG syndrome -- Fibroblast growth factor receptor-related conditions -- First-trimester pregnancy screening -- Fluorescent in situ hybridization -- Focal dermal hypoplasia -- Fragile x syndrome -- Fraser syndrome -- Freeman-Sheldon syndrome -- Friedreich ataxia -- Frontonasal dysplasia -- Frontotemporal dementia -- Fryns syndrome -- Galactosemia -- Galactosialidosis -- Gastric cancer -- Gastroschisis -- Gaucher disease -- Gene -- Gene fusion -- Gene mutations -- Gene panel testing -- Gene pool -- Gene therapy -- Genetic counseling -- Genetic disorders -- Genetic information nondiscrimination act (GINA) -- Genetic mapping -- Genetic testing -- Genetics and congenital anomalies -- Genome -- Genome sequencing -- Genome- and epigenome-wide association studies -- Genotype and phenotype -- Genotype tissue expression project (GTEX) -- Giant congenital melanocytic nevus -- Glanzmann thrombasthenia -- Glaucoma -- Glycine encephalopathy -- Glycogen storage diseases -- GM1-gangliosidosis -- Greig cephalopolysyndactyly -- Griscelli syndrome -- Haim-Munk syndrome -- Hair loss syndromes -- Hallermann-Streiff syndrome -- Hand-foot-genital syndrome -- Harlequin ichthyosis -- Hemihypertrophy (hemihyperplasia) -- Hemochromatosis -- Hemolytic-uremic syndrome -- Hemophilia -- Hepatocellular carcinoma -- Herceptin -- Hereditary angioneurotic edema -- Hereditary colorectal cancer -- Hereditary coproporphyria -- Hereditary desmoid disease -- Hereditary hearing loss and deafness -- Hereditary hemorrhagic telangiectasia -- Hereditary hypertrophic cardiomyopathy -- Hereditary multiple osteochondromas -- Hereditary neuropathy with liability to pressure palsies -- Hereditary pancreatitis -- Hereditary spastic paraplegia -- Hereditary spherocytosis -- Hermansky-Pudlak syndrome -- Hermaphroditism -- Hirschsprung disease -- Holoprosencephaly -- Holt-Oram syndrome -- Homocystinuria -- Human genome project -- Huntington's disease -- Hutchinson-Gilford progeria syndrome -- Hydrocephalus -- Hydrolethalus syndrome 1 (HLS1) -- Hydrops fetalis -- Hyperlipoproteinemia -- Hyperoxaluria -- Hyperphenylalaninemia -- Hypochondrogenesis -- Hypochondroplasia -- Hypophosphatasia -- Hypophosphatemia -- Hypospadias and epispadias -- Ichthyosis -- Imprinting -- Incontinentia pigmenti -- Inheritance -- Inherited arrhythmia -- Jackson-Weiss syndrome -- Jacobsen syndrome -- Jervell and Lange-Nielsen syndrome -- Joubert syndrome -- Kabuki syndrome -- Kallmann syndrome -- Karyotype -- Keppen-Lubinsky syndrome -- Klinefelter syndrome -- Klippel-Feil syndrome -- Klippel-Trenaunay-Weber syndrome -- Kniest dysplasia -- Krabbe disease -- L1 syndrome -- Langer-Saldino achondrogenesis -- Larsen syndrome -- Laterality sequence -- Leber congenital amaurosis -- Lebers hereditary optic atrophy -- Leigh syndrome -- Lesch-Nyhan syndrome -- Leukodystrophy -- Li-Fraumeni syndrome -- Limb-girdle muscular dystrophy -- Lissencephaly -- Long QT syndrome -- Lowe oculocerebrorenal syndrome -- Lupus -- Lynch syndrome -- Macular degeneration, age-related -- Major histocompatibility complex -- Male infertility -- Malignant hyperthermia -- Mannosidosis -- Marfan syndrome -- Marshall syndrome -- Marshall-Smith syndrome -- MCAD deficiency -- McCune-Albright syndrome -- McKusick-Kaufman syndrome -- Meckel-Gruber syndrome -- Meckel's diverticulum -- Menkes syndrome -- Metaphyseal dysplasia -- Methemoglobinemia, beta-globin type -- Methylmalonic acidemia -- Micro syndrome -- Microbiome -- Microcephaly (childhood) -- Microcephaly and hypomyelination -- Microcephaly with spastic diplegia -- Microphthalmia with linear skin defects -- Miller-Dieker syndrome -- Mitochondrial disease -- Moebius syndrome -- Monosomy 1p36 syndrome -- Mowat-Wilson syndrome -- Moyamoya -- Mucolipidosis -- Mucopolysaccharidoses -- Muir-Torre syndrome -- Multifactorial inheritance -- Multiple endocrine neoplasia -- Multiple epiphyseal dysplasia -- Multiple lentigines syndrome -- Multiple sclerosis -- Multiplex ligation-dependent probe amplification -- Muscular dystrophy -- Myasthenia gravis -- MYH9-related disorders -- Myopia -- Myotonia congenita -- Myotonic dystrophy -- Myotubular myopathy -- Nail-patella syndrome -- Nance-Insley syndrome -- Narcolepsy -- Nephrogenic diabetes insipidus -- Neu-Laxova syndrome -- Neural tube defects -- Neurofibromatosis -- Neuronal ceroid lipofuscinoses -- Nevoid basal cell carcinoma -- Next-generation sequencing -- NGLY1 deficiency -- Niemann-Pick disease -- Nijmegen breakage syndrome -- Noonan syndrome -- Norrie disease -- Obesity -- Oculodentodigital syndrome -- Oligohydramnios sequence -- Omphalocele -- Oncogene -- Opitz syndrome -- Oral-facial-digital syndrome -- Organic acidemias -- Ornithine transcarbamylase deficiency -- Osteoarthritis -- Osteogenesis imperfecta -- Osteoporosis -- Osteosarcoma -- Otopalatodigital syndrome -- Ovarian cancer -- |
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Pallister-Hall syndrome -- Pallister-Killian syndrome -- Pancreatic beta cell agenesis -- Pancreatic cancer -- Panic disorder -- Pantothenate kinase-associated neurodegeneration -- Parkes weber syndrome -- Parkinson's disease -- Paroxysmal nocturnal hemoglobinuria -- Patent ductus arteriosus -- Pedigree analysis -- Pelizaeus-Merzbacher disease -- Pendred syndrome -- Pervasive developmental disorders -- Peutz-Jeghers syndrome -- Pfeiffer syndrome -- Pharmacogenetics -- Phenylketonuria (PKU) -- Pierre-Robin sequence -- Poland anomaly -- Polycystic kidney disease -- Polycystic ovary syndrome -- Polydactyly -- Pompe disease -- Pontocerebellar hypoplasia (PCH) -- Porphyrias -- Prader-Willi syndrome -- Preimplantation genetic diagnosis -- Prenatal ultrasound -- Primary ciliary dyskinesia -- Primary familial brain calcification -- Primordial dwarfism -- Prion diseases -- Propionic acidemia -- Prostate cancer -- Protein C deficiency -- Protein S deficiency -- Proteus syndrome -- PRPS1 gene mutation, progressive hearing loss -- Prune-Belly syndrome -- Pseudo-Gaucher disease -- Pseudoachondroplasia -- Pseudoxanthoma elasticum -- PTSD (post-traumatic stress disorder) -- Pulmonary arterial hypertension -- Pyloric stenosis -- Pyruvate carboxylase deficiency -- Pyruvate dehydrogenase complex deficiency -- Pyruvate kinase deficiency -- Raynaud's disease -- Refsum disease -- Renal agenesis -- Renal failure due to hypertension -- Renal-hepatic ciliopathy -- Renpenning syndrome -- Retinitis pigmentosa -- Retinoblastoma -- Rett syndrome -- Rheumatoid arthritis -- Rhizomelic chondrodysplasia punctata -- Rhodopsin -- Rieger syndrome -- RNA (ribonucleic acid) -- Roberts SC phocomelia -- Robinow syndrome -- Rothmund-Thomson syndrome -- Rubinstein-Taybi syndrome -- Russell-Silver syndrome -- Saethre-Chotzen syndrome -- Schinzel-Giedion syndrome -- Schizophrenia -- Schwartz-Jampel syndrome -- Scleroderma -- Sclerosing bone dysplasias -- Scoliosis -- Seckel syndrome -- Selfish gene theory -- Septo-optic dysplasia -- Severe combined immunodeficiency -- Short-rib thoracic dysplasia with or without polydactyly -- Shprintzen-Goldberg craniosynostosis syndrome -- Sialidosis -- Sickle cell disease -- Simpson-Golabi-Behmel syndrome -- Single genome sequencing -- Sirenomelia -- Sjogren-Larsson syndrome -- Skeletal dysplasia -- Smith-Fineman-Myers syndrome -- Smith-Lemli-Opitz syndrome -- Smith-Magenis syndrome -- Sotos syndrome -- SPARCA1 spectrin-associated autosomal recessive cerebellar ataxia type1 -- Spastic cerebral palsy -- Spina bifida -- Spinal and bulbar muscular atrophy -- Spinal muscular atrophy -- Spinocerebellar ataxia -- Spinocerebellar ataxia 3 -- Spondyloepiphyseal dysplasia -- Spondyloepiphyseal dysplasia congenita -- SRY (sex-determining region Y) -- Stargardt disease -- Steroid-resistant nephrotic syndrome type 2/Gallowaymowat syndrome -- Stickler syndrome -- Sturge-Weber syndrome -- Super enhancers (SE) -- SWI/SNF-related autism syndrome -- Tangier disease -- Tar syndrome -- Tay-Sachs disease -- Teratogen -- Thalidomide embryopathy -- Thanatophoric dysplasia -- Thoracic aortic aneurysms -- Thyroid hormone resistance syndrome -- Tourette syndrome -- Treacher Collins syndrome -- Trichorhinophalangeal syndrome -- Triose phosphate isomerase deficiency -- Triple X syndrome -- Triploidy -- Trismus-pseudocamptodactyly syndrome -- Trisomy 8 mosaicism syndrome -- Trisomy 13 -- Tuberous sclerosis complex -- Turner syndrome -- Twin reversed arterial perfusion (TRAP) sequence -- Urea cycle disorders -- Urogenital adysplasia syndrome -- Usher syndrome -- Van der Woude syndrome -- Vater association -- Von Hippel-Lindau syndrome -- Von Willebrand disease -- Waardenburg syndrome -- Walker-Warburg syndrome -- Weaver syndrome -- Weissenbacher-Zweymuller syndrome -- Werner syndrome -- Williams syndrome -- Wilson disease -- Wiskott-Aldrich syndrome -- Wolf-Hirschhorn syndrome -- Wolman disease -- X-linked intellectual disability -- X-linked severe combined immunodeficiency -- X-linked sideroblastic anemia -- Xeroderma pigmentosum -- Xmen -- XXXX syndrome -- XXXXX syndrome -- XYY syndrome -- YY syndrome -- Zellweger spectrum -- Zimmermann-Laband syndrome -- Zinner syndrome -- Zygote. |
| Summary |
Provides clear, complete information on genetic disorders, including conditions, tests, procedures, treatments and therapies, in articles that are both comprehensive and easy to understand in language accessible to laypersons. |
| Subject |
Diseases -- Encyclopedias.
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Genetic disorders -- Encyclopedias.
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Medical genetics -- Encyclopedias.
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| Added Author |
Moy, Tracie, 1977- editor.
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Avery, Laura, 1972- editor.
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Gale (Firm)
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| Note |
Encyclopedia of genetic disorders |
| Other Form: |
Print version: Gale encyclopedia of genetic disorders. Farmington Hills, Mich : Gale, Cengage Learning, [2016] 9781410332813 (DLC) 2015026923 |
| ISBN |
9781410332806 (electronic book) |
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9781410332813 (set : alk. paper) |
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9781410332820 (volume 1 : alk. paper) |
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9781410332837 (volume 2 : alk. paper) |
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9781410332844 (volume 3 : alk. paper) |
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