The Gale encyclopedia of genetic disorders /
The Gale encyclopedia of genetic disorders /
Encyclopedia of genetic disorders Genetic disorders
Laurie J. Fundukian, editor.
- 3rd edition.
- 1 online resource (2 volumes) : color illustrations
- Gale eBooks .
Includes bibliographies and index.
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.
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.
9781414476056
Medical genetics--Encyclopedias.
Genetic disorders--Encyclopedias.
RB155.5
QZ 13 / G1517 2011
Includes bibliographies and index.
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.
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.
9781414476056
Medical genetics--Encyclopedias.
Genetic disorders--Encyclopedias.
RB155.5
QZ 13 / G1517 2011