List of Entries

A

22q13 deletion syndrome

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 retardation syndrome

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 disorder

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 deficiency

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

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

Donohue syndrome

Down syndrome

Duane retraction syndrome

Dubowitz syndrome

Duchenne muscular dystrophy

Dyschondrosteosis

Dysplasia

Dystonia

E

Ectodermal dysplasia

Ectrodactyly-ectodermal dysplasia-clefting

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-Bickel syndrome

Fanconi anemia

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

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

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

Long QT syndrome

Lowe oculocerebrorenal syndrome

M

Macular degeneration–age-related

Major histocompatibility complex

Malignant hyperthermia

Mannosidosis

Marfan syndrome

Marshall-Smith syndrome

Marshall syndrome

MCAD deficiency

Mccune-Albright syndrome

McKusick-Kaufman syndrome

Meckel-Gruber syndrome

Meckels diverticulum

Menkes syndrome

Metaphyseal dysplasia

Methylmalonic acidemia

Methylmalonicaciduria due to methyl-malonic coa mutase deficiency

Microphthalmia with linear skin defects

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 amplification

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-galactosidase deficiency

Neurofibromatosis

Nevoid basal cell carcinoma

Niemann-Pick disease

Nijmegen breakage syndrome

Noonan syndrome

Norrie disease

O

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

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

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 deficiency

Pyruvate kinase deficiency

R

Raynauds disease

Refsum disease

Renal agenesis

Renal failure due to hypertension

Renpenning syndrome

Retinitis pigmentosa

Retinoblastoma

Rett syndrome

Rheumatoid arthritis

Rhizomelic chondrodysplaia punctata

Rhodopsin

Rieger syndrome

RNA

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 syndrome

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

Systemic elastorrhexis

T

Tangier disease

TAR syndrome

Tay-Sachs disease

Teratogen

Thalassemia

Thalidomide embryopathy

Thanatophoric dysplasia

Thrombasthenia of Glanzmann and Naegeli

Tourette syndrome

Treacher Collins syndrome

Trichorhinophalangeal syndrome

Triose phosphate isomerase deficiency

Triploidy

Trismus pseudocamptodactyly syndrome

Trisomy 8 mosaicism syndrome

Trisomy 13

Trisomy 18

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