The Gale encyclopedia of genetic disorders
(eBook)

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.