TY  - BOOK
AU  - Fundukian,Laurie J.
ED  - Gale Group.
TI  - The Gale encyclopedia of genetic disorders
T2  - Gale eBooks
SN  - 9781414476056
AV  - RB155.5 
PY  - 2011///.]
CY  - Farmington Hills, Mich.
PB  - Gale
KW  - Medical genetics
KW  - Encyclopedias
KW  - Genetic disorders
N1  - 2; 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; 2; b
N2  - 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
UR  - https://link.gale.com/apps/pub/3FQF/GVRL?sid=gale_marc&u=columbiaiu
ER  -