The Gale encyclopedia of genetic disorders /
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| Corporate Author: | |
|---|---|
| Other Authors: | |
| Format: | Book |
| Language: | English |
| Published: |
Farmington Hills, Mich. :
Gale,
c2010.
|
| Edition: | 3rd ed. |
| Subjects: |
Table of Contents:
- List of entries
- Introduction
- Advisory board
- Contributors
- Symbol guide for pedigree charts
- Entries
- v. 1. A-L
- v. 2. M-Z
- Appendix
- Chromosome map
- Organizations
- Glossary
- General index.
- v. 1. A-L
- 22q13 deletion syndrome
- Aarskog syndrome
- Aase syndrome
- Abetalipoproteinemia
- Absence of vas deferens
- Acardia
- Accutane embryopathy
- Aceruloplasminemia
- Achondrogenesis
- Achondroplasia
- ACHOO syndrome
- Acrocallosal syndrome
- Acromegaly
- Adams-Oiver 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 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
- Ataxia-Telangiectasia
- Attention deficit hyperactivity disorder
- Autism
- Azorean disease
- Burger-Grutz syndrome
- Bardet-Biedl syndrome
- Barth syndrome
- Bassen-Kornzweig syndrome
- Batten disease
- Beals 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
- Bradchydactyly
- Branchiootorenal syndrome
- Breast cancer
- Bruton agammaglobulinemia
- 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 2 and 11
- 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, agensis
- Costello syndrome
- Cowden syndrome
- Crane-Heise syndrome
- Craniosynostosis
- Cri du chat syndrome
- Crouzon syndrome
- Cystic fibrosis
- Cystinosis
- Cystinuria
- Dandy-Walker malformation
- De Grouchy syndrome
- Deletion 22q11 syndrome
- Dementia
- Dent's disease
- Dentatorubral-pallidoluysian atrophy
- 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
- Eetodermal dysplasia
- Ectrodactyly-ectodermal dysplasia-clefting syndrome
- Ehlers-Danlos syndrome
- Emery-Dreisfuss muscular dystrophy
- Encephalocele
- Engelmann disease
- Entrapment neuropathy
- Epidermolysis bullosa
- Epilepsy
- Erythropoietic protoporphyria
- Erythropoietic porphyria
- Essential hypertension
- Essential tremor
- Fabry diease
- Facioscapulohumeral muscular dystrophy
- Factor V Leiden thrombophilia
- Fahr disease
- Familial adenomatous polyposis
- Familial dysautonomia
- Familial Mediterranean fever
- Familial enphritis
- 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 cnacer
- Gastroschisis
- Gaucher disease
- Gene
- Gene mutations
- Gene pool
- Gene therapy
- Genetic counseling
- Genetic disorders
- Genetic mapping
- Genetic testing
- Genetics and congenital anomalies
- Genitalia, ambiguous
- Genotype and phenotype
- Gerstmann-Straussler-Schneinker disease
- Glaucoma
- Glycogen storage diseases
- GM1-gangliosidosis
- Goltz syndrome
- 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 coporoporphyria
- 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
- Hypochrosphatasia
- Hypophosphatasia
- Hypophosphatemia
- Hypospadias and epispadias
- Ichthyosis
- Imprinting
- Incontinentia pigmenti
- Infantile refsum disease
- Inheritance
- 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
- 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
- v. 2. M-Z
- 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's diverticulum
- Meckel-Gruber syndrome
- Menkes syndrome
- Metaphyseal dysplasia
- Methylmalonic acidemia
- Methylmalonicaciduria due to methylmalonic CoA mutase deficiency
- Micro syndrome
- Microcephaly (childhood)
- Microphthalmia with linear skin defects (MLS)
- Miller-Dicker syndrome
- Moebius syndrome
- Monosomy lp36 syndrome
- Mowat-Wilson syndrome
- Moyamoya
- Mucolipidosis
- Mucopolysaccharidoses
- Mucopolysaccharidosis type 1
- Mucopolysaccharidosis type 2
- Muir-Torre syndrome
- Multifactorial inheritance
- Muliple enocrine neoplasias
- Multiple epiphyseal dysplasia
- Multiple lentigenes 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
- Panthothenate 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
- Psuedo-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
- Petinitus pigmentosa
- Retinoblastoma-- Rett syndrome
- Rheumatoid arthritis
- Rhizomedica 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-Bolabi-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
- Tangier 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
- Trismuys-pseudocamptodactyly syndrome
- Trisomy 13
- Trisomy 18
- Trisomy 8 mosaicism syndrome
- Tuberous sclerosis complex
- Turner syndrome
- Urea cycle disorders
- Urogenital addysplasia 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
- XX male syndrome
- XXXX syndrome
- XXXXX syndrome
- XYY syndrome
- YY syndrome
- Zellweger syndrome
- Zygote.