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Genetic Disorders Encyclopedia (Part Two) Directory

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

2

22q13 Deletion Syndrome

A

Aarskog Syndrome Aase Syndrome Abetalipoproteinemia Acardia Accutane Embryopathy Achondrogenesis Achondroplasia ACHOO Syndrome Acrocallosal Syndrome Acromegaly Adams-Oliver Syndrome Adrenoleukodystrophy Aicardi Syndrome Alagille Syndrome Albinism Alcoholism Alkaptonuria Alpha-1 Antitrypsin Alpha-Thalassemia X-Linked Mental Reta... Alzheimer Disease Amelia 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 Ataxia-Telangiectasia Attention Deficit Hyperactivity Disord... Autism Azorean Disease

B

Bardet-Biedl Syndrome Batten Disease Beals Syndrome Beare-Stevenson Cutis Gyrata Syndrome Beckwith-Wiedemann Syndrome Beta Thalassemia Bicuspid Aortic Valve Biotinidase Deficiency Bipolar Disorder Bloom Syndrome Blue Rubber Bleb Nevus Syndrome Brachydactyly Branchiootorenal Syndrome Breast Cancer Bruton Agammaglobulinemia

C

CADASIL Campomelic Dysplasia Canavan Disease Cancer Cardiofaciocutaneous Syndrome Carnitine Palmitoyltransferase Deficie... Carpenter Syndrome Caudal Dysplasia Celiac Disease Central Core Disease Cerebral Palsy 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 Coloboma Color Blindness Cone-Rod Dystrophy Congenital Adrenal Hyperplasia Congenital Heart Disease Congenital Hypothyroid Syndrome Conjoined Twins Corneal Dystrophy Cornelia de Lange Syndrome Corpus Callosum, Agenesis Costello Syndrome Crane-Heise Syndrome Craniosynostosis Cri du Chat Syndrome Crouzon Syndrome Cystic Fibrosis Cystinosis Cystinuria

D

Dandy-Walker Malformation Deletion 22q11 Syndrome Dementia 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

E

Ectodermal Dysplasia Ectrodactyly-Ectodermal Dysplasia-Clef... Ehlers-Danlos Syndrome Ellis-Van Creveld Syndrome Emery-Dreifuss Muscular Dystrophy Encephalocele Engelmann Disease Epidermolysis Bullosa Epilepsy Essential Hypertension Essential Tremor

F

Fabry Disease Facioscapulohumeral Muscular Dystrophy Factor V Leiden Thrombophilia Fahr Disease Familial Adenomatous Polyposis Familial Dysautonomia Familial Mediterranean Fever Familial Nephritis Fanconi Anemia Fanconi-Bickel Syndrome Fetal Alcohol Syndrome FG Syndrome Fibroblast Growth Factor Receptor Muta... Fluorescent in Situ Hybridization Fragile X Syndrome Fraser Syndrome Freeman-Sheldon Syndrome Friedreich Ataxia Frontonasal Dysplasia Frontotemporal Dementia Fryns Syndrome

G

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 Genotype and Phenotype Glaucoma Glycogen Storage Diseases GM1-Gangliosidosis Goltz Syndrome Greig Cephalopolysyndactyly Griscelli Syndrome

H

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 Hereditary Angioneurotic Edema Hereditary Colorectal Cancer Hereditary Desmoid Disease Hereditary Hearing Loss and Deafness Hereditary Multiple Exostoses 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 Hypochondrogenesis Hypochondroplasia Hypophosphatasia Hypophosphatemia Hypospadias and Epispadias

I

Ichthyosis Imprinting Incontinentia Pigmenti Infantile Refsum Disease Inheritance Introduction

J

Jackson-Weiss Syndrome Jacobsen Syndrome Jervell and Lange-Nielsen Syndrome Joubert Syndrome

K

Kabuki Syndrome

Kallmann Syndrome Kartagener Syndrome Karyotype Kennedy Disease Klinefelter Syndrome Klippel-Feil Sequence Klippel-Trenaunay-Weber Syndrome Krabbe Disease

L

Larsen Syndrome Laterality Sequence Leber Congenital Amaurosis Lebers Hereditary Optic Atrophy Leigh Syndrome Lesch-Nyhan Syndrome Leukodystrophy Li-Fraumeni Syndrome Limb-Girdle Muscular Dystrophy Lissencephaly List of Entries Long QT Syndrome Lowe Oculocerebrorenal Syndrome

M

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 Methylmal... Microphthalmia with Linear Skin Defect... Miller-Dieker Syndrome Moebius Syndrome Moyamoya Mucolipidosis Mucopolysaccharidoses Mucopolysaccharidosis Type I Mucopolysaccharidosis Type II Muir-Torre Syndrome Multifactorial Inheritance Multiple Endocrine Neoplasias Multiple Epiphyseal Dysplasia Multiple Lentigenes Syndrome Multiple Sclerosis Multiplex Ligation-Dependent Probe Amp... Muscular Dystrophy Myasthenia Gravis Myopia Myotonic Dystrophy Myotubular Myopathy

N

Nail-Patella Syndrome Narcolepsy Nephrogenic Diabetes Insipidus Neu-Laxova Syndrome Neural Tube Defects Neuraminidase Deficiency Neuraminidase Deficiency with Beta-Gal... Neurofibromatosis Nevoid Basal Cell Carcinoma Niemann-Pick Disease Nijmegen Breakage Syndrome Noonan Syndrome Norrie Disease

O

Oculo-Digito-Esophago-Duodenal Syndrom... 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 Otopalatodigital Syndrome Ovarian Cancer

P

Paine Syndrome Pallister-Hall Syndrome Pallister-Killian Syndrome Pancreatic Beta Cell Agenesis Pancreatic Cancer Panic Disorder 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 Please Read—Important Informatio... 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 Proteus Syndrome Prune-Belly Syndrome Pseudoachondroplasia Pseudoxanthoma Elasticum Pyloric Stenosis Pyruvate Carboxylase Deficiency Pyruvate Dehydrogenase Complex Deficie... Pyruvate Kinase Deficiency

R

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

S

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 S... Sickle Cell Disease Simpson-Golabi-Behmel Syndrome Sirenomelia Sjögren-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 SRY (Sex Determining Region Y) Stargardt Disease Stickler Syndrome Sturge-Weber Syndrome Sutherland-Haan Syndrome Symbol Guide for Pedigree Charts

T

Tangier Disease TAR Syndrome Tay-Sachs Disease Teratogen Thalassemia Thalidomide Embryopathy Thanatophoric Dysplasia Thrombasthenia of Glanzmann and Naegel... Tourette Syndrome Treacher Collins Syndrome Trichorhinophalangeal Syndrome Triose Phosphate Isomerase Deficiency Triploidy Trismus-Pseudocamptodactyly Syndrome Trisomy 13 Trisomy 18 Trisomy 8 Mosaicism Syndrome Tuberous Sclerosis Complex Turner Syndrome

U

Urea Cycle Disorders Urogenital Adysplasia Syndrome Usher Syndrome

V

Van Der Woude Syndrome VATER Association Von Hippel-Lindau Syndrome Von Willebrand Disease

W

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

X-Linked Hydrocephaly X-Linked Mental Retardation Xeroderma Pigmentosum XX Male Syndrome XYY Syndrome

Z

Zellweger Syndrome Zygote