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Genetic Disorders Encyclopedia (Part One) 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

A

Aarskog syndrome Aase syndrome Abetalipoproteinemia Acardia Accutane embryopathy Achondrogenesis Achondroplasia ACHOO syndrome Acid maltase deficiency Acrocallosal syndrome Acromegaly Adams-Oliver syndrome Adrenoleukodystrophy Aicardi syndrome Alagille syndrome Albinism Alcoholism Alkaptonuria Alpha-1 antitrypsin Alzheimer disease Amelia Amniocentesis 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

Campomelic dysplasia Canavan disease Cancer Cardiofaciocutaneous syndrome Carnitine palmitoyltransferase deficie... Carpenter syndrome Celiac disease Central core disease Cerebral palsy Charcot-Marie-Tooth disease Charge Syndrome Chediak-Higashi syndrome 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 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 Dysplasia Dystonia

E

Ectodermal dysplasia Ehlers-Danlos syndrome Ellis-van Creveld syndrome Emery-Dreifuss muscular dystrophy Encephalocele Engelmann disease Epidermolysis bullosa Epilepsy Essential hypertension

F

Fabry disease Factor V Leiden thrombophilia Fahr disease Familial adenomatous polyposis Familial dysautonomia Familial Mediterranean fever Fanconi anemia Fanconi-Bickel syndrome Fetal alcohol syndrome FG syndrome Fibroblast growth factor receptor muta... Fragile X syndrome Fraser syndrome Freeman-Sheldon syndrome Friedreich ataxia Frontonasal dysplasia Fryns syndrome FSH muscular dystrophy

G

Galactokinase deficiency Galactosemia Gaucher disease Gene Gene mutations Gene pool Gene therapy Genetic counseling Genetic disorders Genetic mapping Genetic testing Genotype and phenotype Glaucoma GM1-gangliosidosis Goldenhar syndrome Goltz syndrome Greig cephalopolysyndactyly Griscelli syndrome

H

Haim-Munk syndrome Hair loss syndromes Hallermann-Streiff syndrome Hand-foot-uterus syndrome Harlequin fetus Hemihypertrophy (Hemihyperplasia) Hemochromatosis Hemolytic-uremic syndrome Hemophilia Hereditary angioneurotic edema Hereditary colorectal cancer Hereditary desmoid disease Hereditary hearing loss and deafness Hereditary multiple exostoses Hereditary pancreatitis Hereditary spastic paraplegia Hermansky-Pudlak syndrome Hermaphroditism Hirschsprung's disease Holoprosencephaly Holt-Oram syndrome Homocystinuria Human Genome Project Hunter syndrome Huntington disease Hurler syndrome Hydrocephalus Hydrolethalus syndrome Hydrops fetalis Hyperlipoproteinemia Hypochondroplasia Hypophosphatasia Hypophosphatemia Hypospadias and epispadias

I

Ichthyosis 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 Krabbe disease

L

Langer-Giedion syndrome Larsen syndrome Leber congenital amaurosis Lebers hereditary optic atrophy Leigh syndrome Leri-Weill dyschondrosteosis Lesch-Nyhan syndrome Leukodystrophy Li-Fraumeni syndrome Limb-girdle muscular dystrophy Lissencephaly Liver cancer Long-QT syndrome Lowe 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 Muir-Torre syndrome Multifactorial inheritance Multiple endocrine neoplasias Multiple lentigenes syndrome Muscular dystrophy Myasthenia gravis Myopia Myotonic dystrophy

N

Nail-patella syndrome Narcolepsy Nephrogenic diabetes insipidus Neu-Laxova syndrome Neural tube defects Neuraminidase deficiency Neuraminidase deficiency with beta-gal... Neurofibromatosis Niemann-Pick disease Nijmegen breakage syndrome Noonan syndrome Norrie disease

O

Oculo-digito-esophagoduodenal 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 Pancreatic beta cell agenesis Pancreatic cancer Panic disorder Parkinson disease Paroxysmal nocturnal hemoglobinuria Patau syndrome 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 Porphyrias Prader-Willi syndrome Prion diseases Progeria syndrome Propionic acidemia Prostate cancer Proteus syndrome Prune-belly syndrome Pyloric stenosis Pyruvate carboxylase deficiency Pyruvate dehydrogenase complex deficie... Pyruvate kinase deficiency

R

Raynaud disease Refsum disease Renal failure due to hypertension Renpenning syndrome Retinitis pigmentosa Retinoblastoma Rett syndrome 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 Scoliosis Sebastian syndrome Seckel syndrome Severe combined immunodeficiency Short-rib polydactyly Shprintzen-Goldberg craniosynostosis s... Sickle cell disease Simpson-Golabi-Behmel syndrome Sirenomelia Sjögren-Larsson syndrome Smith-Fineman-Myers syndrome Smith-Lemli-Opitz syndrome Smith-Magenis syndrome Sotos syndrome Spastic cerebral palsy Spherocytosis, hereditary Spina bifida Spinal muscular atrophy Spinocerebellar ataxia Spondyloepiphyseal dysplasia SRY (sex determining region Y) Stickler syndrome Stomach cancer 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 Triose phosphate isomerase deficiency Trisomy 18 Tuberous sclerosis complex Turner syndrome

U

Urea cycle disorders 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 Xeroderma pigmentosum XX male syndrome XYY syndrome

Z

Zellweger syndrome Zygote