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Preface
Blood and Lymph Diseases
Anemia, sickle cell
Burkitt lymphoma
Gaucher disease
Hemophilia A
Leukemia, chronic myeloid
Niemann
Pick 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
Familial Mediterranean fever
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
Charcot
Marie
Tooth 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
Charcot
Marie
Tooth syndrome
Cockayne syndrome
Deafness
Duchenne muscular dystrophy
Epilepsy
Essential tremor
Fragile X syndrome
Friedreich's ataxia
Gaucher disease
Huntington disease
Lesch-Nyhan syndrome
Maple syrup urine disease
Menkes syndrome
Myotonic dystrophy
Narcolepsy
Neurofibromatosis
Niemann
Pick 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
Niemann
Pick 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
Mitochondria and Disease
Aminoglycoside-induced deafness
Kearns-Sayre syndrome
Leber hereditary optic neuropathy
Leigh syndrome
NARP
MELAS
Pearson’s syndrome
Progressive external opthalmoplegia
Mental Health
Schizophrenia
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