What's new! September 2003

Preface

Blood and Lymph Diseases

Anemia, sickle cell

Burkitt lymphoma

Gaucher disease

Hemophilia A

Leukemia, chronic myeloid

NiemannPick disease

Paroxysmal nocturnal hemoglobinuria

Porphyria

Thalassemia

Cancers

Breast and ovarian cancer

Burkitt lymphoma

Colon cancer

Leukemia, chronic myeloid

Lung carcinoma, small cell

Malignant melanoma

Multiple endocrine neoplasia

Neurofibromatosis

The p53 tumor suppressor protein

Pancreatic cancer

Polycystic kidney disease

Prostate cancer

Harvey Ras oncogene

Retinoblastoma

Tuberous sclerosis

Von Hippel-Lindau syndrome

The Digestive System

Colon cancer

Crohn's disease

Cystic fibrosis

Diabetes, type 1

Glucose galactose malabsorption

Pancreatic cancer

Wilson's disease

Zellweger syndrome

Ear, Nose, and Throat

Deafness

Neurofibromatosis

Pendred syndrome

Diseases of the Eye

Best disease

Glaucoma

Gyrate atrophy of the choroid and retina

Retinoblastoma

Female-Specific Diseases

Breast and ovarian cancer

Rett syndrome

Glands and Hormones

Adrenal hyperplasia, congenital

Adrenoleukodystrophy

Autoimmune polyglandular syndrome

Breast and ovarian cancer

Cockayne syndrome

Diabetes, type 1

Diastrophic dysplasia

Multiple endocrine neoplasia

Pendred syndrome

The Heart and Blood Vessels

Ataxia telangiectasia

Atherosclerosis

Long QT syndrome

Von Hippel-Lindau syndrome

Williams syndrome

Diseases of the Immune System

Asthma

Ataxia telangiectasia

Autoimmune polyglandular syndrome

Burkitt lymphoma

Diabetes, type 1

DiGeorge syndrome

Immunodeficiency with hyper-IgM

Leukemia, chronic myeloid

Severe combined immunodeficiency

Male-Specific Diseases

Alport syndrome

Male pattern baldness

Prostate cancer

SRY: Sex determination

Muscle and Bone

Achondroplasia

Amyotrophic lateral sclerosis

CharcotMarieTooth syndrome

Cockayne syndrome

Diastrophic dysplasia

Duchenne muscular dystrophy

Ellis-van Creveld syndrome

Fibrodysplasia ossificans progressiva

Marfan syndrome

Myotonic dystrophy

Neonatal Diseases

Achondroplasia

Angelman syndrome

Cockayne syndrome

Cystic fibrosis

DiGeorge syndrome

Fragile X syndrome

Marfan syndrome

Prader-Willi syndrome

Severe combined immunodeficiency

Waardenburg syndrome

Werner syndrome

Williams syndrome

Zellweger syndrome

The Nervous System

Adrenoleukodystrophy

Alzheimer disease

Amyotrophic lateral sclerosis

Angelman syndrome

Ataxia telangiectasia

CharcotMarieTooth syndrome

Cockayne syndrome

Deafness

Duchenne muscular dystrophy

Epilepsy

Essential tremor

Familial Mediterranean fever

Fragile X syndrome

Friedreich's ataxia

Gaucher disease

Huntington disease

Lesch-Nyhan syndrome

Maple syrup urine disease

Menkes syndrome

Myotonic dystrophy

Narcolepsy

Neurofibromatosis

NiemannPick disease

Parkinson disease

Phenylketonuria

Prader-Willi syndrome

Refsum disease

Rett syndrome

Spinal muscular atrophy

Spinocerebellar ataxia

Tangier disease

Tay-Sachs disease

Tuberous sclerosis

Von Hippel-Lindau syndrome

Williams syndrome

Wilson's disease

Zellweger syndrome

Nutritional and Metabolic Diseases

Adrenoleukodystrophy

Diabetes, type 1

Gaucher disease

Glucose galactose malabsorption

Hereditary hemochromatosis

Lesch-Nyhan syndrome

Maple syrup urine disease

Menkes syndrome

NiemannPick disease

Obesity

Pancreatic cancer

Phenylketonuria

Prader-Willi syndrome

Porphyria

Refsum disease

Tangier disease

Tay-Sachs disease

Wilson's disease

Zellweger syndrome

Respiratory Diseases

Alpha-1-antitrypsin deficiency

Asthma

Cystic fibrosis

Lung carcinoma, small cell

Skin and Connective Tissue

Male pattern baldness

Diastrophic dysplasia

Ellis-van Creveld syndrome

Marfan syndrome

Malignant melanoma

Menkes syndrome

Porphyria

Chromosome Map

Chromosome 1

Chromosome 2

Chromosome 3

Chromosome 4

Chromosome 5

Chromosome 6

Chromosome 7

Chromosome 8

Chromosome 9

Chromosome 10

Chromosome 11

Chromosome 12

Chromosome 13

Chromosome 14

Chromosome 15

Chromosome 16

Chromosome 17

Chromosome 18

Chromosome 19

Chromosome 20

Chromosome 21

Chromosome 22

Chromosome X

Chromosome Y