The Gale encyclopedia of genetic disorders
(eBooks)
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Published
Farmington Hills, Mich. : Gale, 2011.
Edition
3rd edition.
Physical Description
1 online resource (2 volumes) : color illustrations
Status
Available Online
Summary
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Table of Contents
22q13 deletion syndrome -- Aarskog syndrome -- Aase syndrome -- Abetalipoproteinemia -- Absence of vas deferens -- Acardia -- Accutane embryopathy -- Aceruloplasminemia -- Achondrogenesis -- Achondroplasia -- ACHOO syndrome -- Acrocallosal syndrome -- Acromegaly -- Adams-Oliver syndrome -- Adelaide-type craniosynostosis -- Adenylosuccinate lyase deficiency -- Adrenoleukodystrophy -- Aicardi syndrome -- Ala dehydratase deficiency -- Alagille syndrome -- Albinism -- Alcoholism -- Alexander disease -- Alkaptonuria -- Alpha-1 antitrypsin -- Alpha-thalassemia X-linked mental retardation syndrome -- Alstrom syndrome -- Alzheimer's disease -- Amelia -- Amelogenesis imperfecta -- Amniocentesis -- Amyoplasia -- Amyotrophic lateral sclerosis -- Androgen insensitivity syndrome -- Anemia, sideroblastic X-linked -- Anencephaly -- Angelman syndrome -- Ankylosing spondylitis -- Apert syndrome -- Arginase deficiency -- Arnold-Chiari malformation -- Arthrogryposis multiplex congenita -- Arthropathy-camptodactyly syndrome -- Asperger syndrome -- Asplenia -- Asthma -- Astrocytoma -- Attention deficit hyperactivity disorder -- Autism -- Azorean disease -- Bardet-biedl syndrome -- Barth syndrome -- Bassen-Kornzweig syndrome -- Batten disease -- Beals disease -- 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 -- Branchiootorenal syndrome -- Breast cancer -- Bruton agammaglobulinemia -- Burger-Grutz syndrome -- Campomelic dysplasia -- Canavan disease -- Cancer -- Cancer genetics -- Cardiofaciocutaneous syndrome -- Carnitine palmitoyltransferase deficiency -- Carpenter syndrome -- Caudal dysplasia -- Cayler cardiofacial syndrome -- Celiac disease -- Central core disease -- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy -- Cerebral palsy -- Channelopathies -- Charcot-Marie-Tooth disease -- Charge syndrome -- Chediak-Higashi syndrome -- Chondrodysplasia punctata -- Chondrosarcoma -- Choroideremia -- Chromosomal abnormalities -- Chromosome -- Chromosome map -- Cleft lip and palate -- Cleidocranial dysplasia -- Clubfoot -- Cockayne syndrome -- Coffin-Lowry syndrome -- Coffin-Siris syndrome -- Cohen syndrome -- Collagenopathy, types II and XI -- Coloboma -- Color blindness -- Compression neuropathy -- Cone-Rod dystrophy -- Congenital adrenal hyperplasia -- Congenital heart disease -- Congenital hypothyroid syndrome -- Congenital methemoglobinemia -- Conjoined twins -- Conotruncal anomaly face syndrome -- Corneal dystrophy -- Cornelia de lange syndrome -- Corpus callosum, agenesis -- Costello syndrome -- Cowden syndrome -- Crane-Heise syndrome -- Craniosynostosis -- Cri du chat syndrome -- Crouzon syndrome -- Crouzonodermoskeletal syndrome -- Cystic fibrosis -- Cystinosis -- Cystinuria -- Dandy-walker malformation -- De Grouchy syndrome -- Deletion 22q11 syndrome -- Dementia -- Dentatorubral-pallidoluysian atrophy -- Dent's disease -- Depression -- Diabetes -- Diastrophic dysplasia -- Distal arthrogryposis syndrome -- DNA (deoxyribonucleic acid) -- Donohue syndrome -- Down syndrome -- Duane retraction syndrome -- Dubowitz syndrome -- Duchenne muscular dystrophy -- Dyschondrosteosis -- Dysplasia -- Dystonia -- Ectodermal dysplasia -- Ectrodactyly-ectodermal dysplasia-clefting syndrome -- Ehlers-Danlos syndrome -- Ellis-van Creveld syndrome -- Emery-Dreifuss muscular dystrophy -- Encephalocele -- Engelmann disease -- Entrapment neuropathy -- Epidermolysis bullosa -- Epilepsy -- Erythropoietic porphyria -- Erythropoietic protoporphyria -- Essential hypertension -- Essential tremor -- Fabry disease -- Facioscapulohumeral muscular dystrophy -- Factor V Leiden thrombophilia -- Fahr disease -- Familial adenomatous polyposis -- Familial dysautonomia -- Familial Mediterranean fever -- Familial nephritis -- Familial pulmonary arterial hypertension -- Fanconi anemia -- Fanconi-Bickel syndrome -- Fetal alcohol syndrome -- FG syndrome -- Fibroblast growth factor receptor mutations -- Fluorescent in situ hybridization -- Fragile x syndrome -- Fraser syndrome -- Freeman-Sheldon syndrome -- Friedreich ataxia -- Frontonasal dysplasia -- Frontotemporal dementia -- Fryns syndrome -- Galacktokinase deficiency -- Galactosemia -- Gastric cancer -- Gastroschisis -- Gaucher disease -- Gene -- Gene mutations -- Gene pool -- Gene therapy -- Genetic counseling -- Genetic disorders -- -- Genetic mapping -- Genetic testing -- Genetics and congenital anomalies -- Genitalia, ambiguous -- Genome -- Genome sequencing -- Genotype and phenotype -- Gerstmann-Straussler-Scheinker disease -- Glaucoma -- Glycogen storage diseases -- Goltz syndrome -- GM1-gangliosidosis -- Greig cephalopolysyndactyly -- Griscelli syndrome -- Haim-Munk syndrome -- Hair loss syndromes -- Hallermann-Streiff syndrome -- Hand-foot-uterus syndrome -- Harlequin fetus -- Hemifacial microsomia -- 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 multiple exostoses -- Hereditary nonpolyposis colorectal cancer -- Hereditary pancreatitis -- Hereditary spastic paraplegia -- Hereditary spherocytosis -- Hermansky-Pudlak syndrome -- Hermaphroditism -- Hirschsprung disease -- Holoprosencephaly -- Holt-Oram syndrome -- Homocystinuria -- Human genome project -- Huntington disease -- Hydrocephalus -- Hydrolethalus syndrome -- Hydrops fetalis -- Hyperlipoproteinemia -- Hyperoxaluria -- Hyperphenylalaninemia -- Hypochondrogenesis -- Hypochondroplasia -- Hypophosphatasia -- Hypophosphatemia -- Hypospadias and epispadias -- Ichthyosis -- Imprinting -- Incontinentia pigmenti -- Infantile Refsum disease -- Inheritance -- Inherited arrhythmia --
Jackson-Weiss syndrome
Jacobsen syndrome
Jervell and Lange-Nielsen syndrome
Joubert syndrome
Kabuki syndrome
Kallmann syndrome
Kartagener syndrome
Karyotype
Kennedy disease
Klinefelter syndrome
Klippel-Feil syndrome
Klippel-Trenaunay-Weber syndrome
Kniest dysplasia
Krabbe disease
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
Lipoprotein lipase deficiency
Lissencephaly
Long QT syndrome
Lowe oculocerebrorenal syndrome
Machado-Joseph disease
Macular degeneration, age-related
Major histocompatibility complex
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
Methylmalonic acidemia
Methylmalonicaciduria due to methylmalonic CoA mutase deficiency
Micro syndrome
Microcephaly (childhood)
Microphthalmia with linear skin defects (MLS)
Miller-Dieker syndrome
Moebius syndrome
Monosomy 1p36 syndrome
Mowat-Wilson syndrome
Moyamoya
Mucolipidosis
Mucopolysaccharidoses
Mucopolysaccharidosis type I, Mucopolysaccharidosis type II
Muir-Torre syndrome
Multifactorial inheritance
Multiple endocrine neoplasias
Multiple epiphyseal dysplasia
Multiple lentigines syndrome
Multiple sclerosis
Multiplex ligation-dependent probe amplification
Muscular dystrophy
Myasthenia gravis
Myopia
Myotonic dystrophy
Myotubular myopathy
Nail-patella syndrome
Nance-Insley syndrome
Narcolepsy
Nephrogenic diabetes insipidus
Neu-Laxova syndrome
Neural tube defects
Neuraminidase deficiency
Neuraminidase deficiency with beta-galactosidase deficiency
Neurofibromatosis
Nevoid basal cell carcinoma
Niemann-Pick disease
Nijmegen breakage syndrome
Nonketotic hyperglycemia
Noonan syndrome
Norrie disease
Oculo-digito-esophago-duodenal syndrome
Oculodentodigital syndrome
Oligohydramnios sequence
Omphalocele
Oncogene
Opitz syndrome
Oral-facial-digital syndrome
Organic acidemias
Ornithine transcarbamylase deficiency
Osler-Weber-Rendu syndrome
Osteoarthritis
Osteogenesis imperfecta
Osteoporosis
Osteosarcoma
Otopalatodigital syndrome
Ovarian cancer
Paine syndrome
Pallister-Hall syndrome
Pallister Killian syndrome
Pancreatic beta cell agenesis
Pancreatic cancer
Panic disorder
Pantothenate kinase-associated neurodegeneration (PKAN)
Parkinson disease
Paroxysmal nocturnal hemoglobinuria
Patent ductus arteriosus
Pedigree analysis
Pelizaeus-Merzbacher disease
Pendred syndrome
Pervasive developmental disorders
Peutz-Jeghers syndrome
Pfeiffer syndrome
Pharmacogenetics
Phenylketonuria
Pierre-Robin sequence
Pituitary dwarfism
Poland anomaly
Polycystic kidney disease
Polycystic ovary syndrome
Polydactyly
Pompe disease
Porphyrias
Prader-Willi syndrome
Prenatal ultrasound
Prion diseases
Progeria syndrome
Propionic acidemia
Prostate cancer
Protein C deficiency
Protein S deficiency
Proteus syndrome
Prune-Belly syndrome
Pseudo-Gaucher disease
Pseudoachondroplasia
Pseudoxanthoma elasticum
Pyloric stenosis
Pyruvate carboxylase deficiency
Pyruvate dehydrogenase complex deficiency
Pyruvate kinase deficiency
Raynaud disease
Refsum disease
Renal agenesis
Renal failure due to hypertension
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
Sebastian syndrome
Seckel syndrome
Septo-optic dysplasia
Severe combined immunodeficiency
Short-Rib polydactyly
Shprintzen-Goldberg craniosynostosis syndrome
Sickle cell disease
Simpson-Golabi-Behmel syndrome
Sirenomelia
Sjogren-Larsson syndrome
Skeletal dysplasia
Smith-Fineman-Myers syndrome
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
Sotos syndrome
Spastic cerebral palsy
Spina bifida
Spinal muscular atrophy
Spinocerebellar ataxia
Spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia congenita
SRY (Sex Determining Region Y)
Stargardt disease
Stickler syndrome
Sturge-Weber syndrome
Sutherland-Haan syndrome
angier disease
Tar syndrome
Tay-Sachs disease
Teratogen
Thalassemia
Thalidomide embryopathy
Thanatophoric dysplasia
Thrombasthenia of Glanzmann and Naegeli
Tomaculous neuropathy
Tourette syndrome
Treacher Collins syndrome
Trichorhinophalangeal syndrome
Triose phosphate isomerase deficiency
Triple X syndrome
Triploidy
Trismus-pseudocamptodactyly syndrome
Trisomy 8 mosaicism syndrome
Trisomy 13
Trisomy 18
Tuberous sclerosis complex
Turner syndrome
Urea cycle disorders
Urogenital adysplasia syndrome
Usher syndrome
Van der Woude syndrome
Vater association
Von Hippel-Lindau syndrome
Von Recklinghausen's neurofibromatosis
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 hydrocephaly
X-linked mental retardation
X-linked severe combined immunodeficiency
Xeroderma pigmentosum
XXXX syndrome
XXXXX syndrome
XYY syndrome
YY syndrome
Zellweger syndrome
Zygote.
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Subjects
Library of Congress Subjects
More Details
Format
eBooks
Language
English
ISBN
9781414476056
Notes
Bibliography
Includes bibliographical references and index.
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.
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Citations
APA Citation, 7th Edition (style guide)
Fundukian, L. J. (2011). The Gale encyclopedia of genetic disorders (3rd edition.). Gale.
Chicago / Turabian - Author Date Citation, 17th Edition (style guide)Fundukian, Laurie J., 1970-. 2011. The Gale Encyclopedia of Genetic Disorders. Gale.
Chicago / Turabian - Humanities (Notes and Bibliography) Citation, 17th Edition (style guide)Fundukian, Laurie J., 1970-. The Gale Encyclopedia of Genetic Disorders Gale, 2011.
MLA Citation, 9th Edition (style guide)Fundukian, Laurie J. The Gale Encyclopedia of Genetic Disorders 3rd edition., Gale, 2011.
Note! Citations contain only title, author, edition, publisher, and year published. Citations should be used as a guideline and should be double checked for accuracy. Citation formats are based on standards as of August 2021.