Emery and Rimoin's Essential Medical Genetics
Herausgeber: Rimoin, David L; Korf, Bruce; Pyeritz, Reed E
Emery and Rimoin's Essential Medical Genetics
Herausgeber: Rimoin, David L; Korf, Bruce; Pyeritz, Reed E
- Gebundenes Buch
- Merkliste
- Auf die Merkliste
- Bewerten Bewerten
- Teilen
- Produkt teilen
- Produkterinnerung
- Produkterinnerung
For decades, Emery and Rimoin¿s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the 6e, and featuring 174 original contributions from the many authors of the full set, this one-volume work expertly condenses and synthesizes the most clinically relevant content for convenient desk reference. Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific…mehr
Andere Kunden interessierten sich auch für
- Phillip R. ReillyStrongest Boy World & Other Advent C CB: How Genetic Information Is Reshaping Our Lives30,99 €
- Jane K. SetlowGenetic Engineering39,99 €
- Jane K. SetlowGenetic Engineering39,99 €
- Diagnostic Molecular Pathology124,99 €
- Essential Concepts in Molecular Pathology60,99 €
- Isabelle Godin / Ana Cumano (eds.)Hematopoietic Stem Cell Development185,99 €
- George P. RédeiEncyclopedia of Genetics, Genomics, Proteomics, and Informatics1.757,99 €
-
-
-
For decades, Emery and Rimoin¿s Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. Developed in parallel to the 6e, and featuring 174 original contributions from the many authors of the full set, this one-volume work expertly condenses and synthesizes the most clinically relevant content for convenient desk reference. Helping to bridge the gap between high-level molecular genetics and individual application, it follows the multi-volume set in encompassing scientific fundamentals, full spectrum discussion of major inherited disorders, and actionable therapies. Clinically oriented information is supported by concise descriptions of the principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. This print volume is complemented and enhanced with online access to the complete text, online-only references, and high-quality illustrations on expertconsult.com.
Produktdetails
- Produktdetails
- Verlag: Elsevier Health Sciences
- Seitenzahl: 646
- Erscheinungstermin: 4. Juni 2013
- Englisch
- Abmessung: 282mm x 222mm x 30mm
- Gewicht: 1990g
- ISBN-13: 9780124072404
- ISBN-10: 0124072402
- Artikelnr.: 36957060
- Verlag: Elsevier Health Sciences
- Seitenzahl: 646
- Erscheinungstermin: 4. Juni 2013
- Englisch
- Abmessung: 282mm x 222mm x 30mm
- Gewicht: 1990g
- ISBN-13: 9780124072404
- ISBN-10: 0124072402
- Artikelnr.: 36957060
History of Medical Genetics
Medicine in a Genetic Context
Nature and Frequency of Genetic Disease
Genomics and Proteomics
Genome Structure and Gene Expression
Epigenetics
Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences
Mendelian Inheritance Analysis of Genetic Linkage
Chromosomal Basis of Inheritance
Mitochondrial Genes in Degenerative Diseases, Cancer and Aging
Multifactoral Inheritance and Complex Traits
Population Genetics
Pathogenetics of Disease
Genetic Epidemiology
Human Developmental Genetics
Twins and Twinning
The Molecular Biology of Cancer
The Biologic Basis of Aging: Implications for Medical Genetics
Pharmacogenetics and Pharmacogenomics
Bioinformatics
Genetic Risk Assessment for Common Disease
Genetic Counseling and Clinical Risk Assessment
Cytogenetic Analysis
Diagnostic Molecular Genetics
Heterozygote Testing and Carrier Screening
Prenatal Screening for Neural Tube Defects and Aneuploidy Techniques for Prenatal Diagnosis
Neonatal Screening
Enzyme Replacement and Pharmacologic Chaperone Therapies for Lysomal Storage Disease
Gene Therapy
Ethical and Social Issues in Clinical Genetics
Legal Issues in Genetics in Medicine
The Genetic Basis of Female Infertility
Male Infertility
Fetal Loss
Genetic Disorders of Prematurity
A Clinical Approach to the Dysmorphic Child
Clinical Teratology
Abnormal Mental Development
Abnormal Body Size and Proportion Susceptibility and Response to Infection
Transplantation Genetics
Down Syndrome and other Autosomal Trisomies
Sex Chromosome Abnormalities
Deletions and Other Structural Abnormalities of the Autosomes
Congenital Heart Disease
Cardiomyopathies
Pulmonary Arterial Hypertension
Hereditary Hemorrhagic Telangiectasia
Cutaneous Hamartoneoplastic Disorders
Disorders of the Venous System
Capillary Malformation / Arteriovenous Malformation
Hereditary Disorders or the Lymphatic System
Familial Dysrhythmias and Conduction Disorders
Molecular Basis of Human Hypertension
Preclampsia
Common Genetic Determinants of Coagulation and Fibronolysis
Genetics of Atherosclerotic Cardiovascular Disease
Cystic Fibrosis
Asthma
Hereditary Pulmonary Emphysema
Interstitial and Restrictive Pulmonary Disorders
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
Cystic Diseases of the Kidney
Nephrotic Disorders
Renal Tubular Disorders
Cancer of the Kidney and Urogenital Tract
Gastrointestinal Tract and Hepatobiliary Duct System
In?ammatory Bowel Disease
Bile Pigment Metabolism and its Disorders
Cancer of the Colon and Gastrointestinal Tract
Hemoglobinopathies and Thalassemias
Other Hereditary Red Blood Cell Disorders
Hemophilias and Other Disorders of Hemostasis
Rhesus and Other Fetomaternal Incompatibilities
Leukemias, Lymphomas and Other Related Disorders
Autoimmunity: Genetics and Immunological Mechanisms
Systemic Lupus Erythematosus
Rheumatoid Disease and Other In?ammatory Arthropathies
Amyloidosis and Other Protein Deposition Diseases
Immunode?ciency Disorders
Complement Defects
Disorders of Leukocyte Function
Genetic Disorders of the Pituitary Gland
Thyroid Disorders
Parathyroid Disorders
Diabetes Mellitus
Genetic Disorders of the Adrenal Gland
Disorders of the Gonads, Genital Tract and Genitalia
Cancer of the Breast and Female Reproductive Tract
Disorders of the Body Mass
Genetic Lipodystrophies
Amino Acid Metabolism
Disorders of Carbohydrate Metabolism
Congenital disorders of protein glycosylation
Purine and Pyrimidine Metabolism
Lipoprotein and Lipid Metabolism
Organic Acidemias and Disorders of Fatty Acid Oxidation
Vitamin D Metabolism or ActionInherited Porphyrias
Copper Metabolism
Iron Metabolism and Related Disorders
Mucopolysaccharidoses
Disorders of DNA Repair and Metabolism
Oligosaccharidoses and Allied Disorders
Gangliosidoses and Related Lipid Storage Diseases
Peroxisomal Disorders
Genetics of Personality
Fragile X Syndrome and Other Causes of X-linked Mental Handicap
Dyslexia and Other Speci?c Learning Disorders
Attention De?cit Hyperactivity Disorder and Other Behavioral Disorders
Autism & Autism Spectrum Alzheimer Disease and Other Dementias
Shizophrenia and Affective Disorders
Addictive Disorders
Neural Tube Defects Genetic Disorders of Cerebral Cortical Development
The Epilepsies
Basal Ganglia Disorders
The Hereditary Ataxias
Sleep Disorders
Hereditary Spastic Paraplegia
Autonomic and Sensory Disorders
The Phakomatoses
Multiple Sclerosis and Other Demyelinating Disorders
Cerebrovascular Disorders
Primary Tumors of the Nervous System
The muscular dystrophies
Hereditary Motor and Sensory Neuropathies Congenital (Structural) Myopathies
Spinal Muscular Atrophies Nondystrophic Myotonias and Periodic Paralyses
Myotonic Dystrophy
Hereditary and Autoimmune Myasthenias
Motor Neurone Disease
Color Vision Defects
Optic Atrophy and Congenital Blindness
Glaucoma
Defects of the Cornea
Anomalies of the Lens
Hereditary Retinal and Choroidal Degenerations
Strabismus
Retinoblastoma
Disorders of the Hair
Hereditary hearing impairment
Clefting/Craniofacial Syndromes/DentalCraniosynostosis
Abnormalities of Pigmentation
Ichthyosiform Dermatoses
Epidermolysis Bullosa
Ectodermal Dysplasias
Psoriasis and Related Disorders
Skin Cancer
Marfan Syndrome and Other Disorders of Fibrillin
Ehlers-Danlos Syndrome
Heritable Diseases Affecting the Elastic Tissues: Cutis Laxa, Pseudoxanthoma Elasticum and Related Disorders
Osteogenesis Imperfecta (and other disorders of bone matrix)
Disorders of Bone Density, Volume and Mineralization
Chondrodysplasias
Abnormalities of Bone Structure
The Dysostoses
Arthrogryposes (Multiple Congenital Contractures)
Common Skeletal Deformities
Hereditary Nonin?ammatory Arthropathies
Pathways-Cohesinopathies
Ciliopathies
Medicine in a Genetic Context
Nature and Frequency of Genetic Disease
Genomics and Proteomics
Genome Structure and Gene Expression
Epigenetics
Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences
Mendelian Inheritance Analysis of Genetic Linkage
Chromosomal Basis of Inheritance
Mitochondrial Genes in Degenerative Diseases, Cancer and Aging
Multifactoral Inheritance and Complex Traits
Population Genetics
Pathogenetics of Disease
Genetic Epidemiology
Human Developmental Genetics
Twins and Twinning
The Molecular Biology of Cancer
The Biologic Basis of Aging: Implications for Medical Genetics
Pharmacogenetics and Pharmacogenomics
Bioinformatics
Genetic Risk Assessment for Common Disease
Genetic Counseling and Clinical Risk Assessment
Cytogenetic Analysis
Diagnostic Molecular Genetics
Heterozygote Testing and Carrier Screening
Prenatal Screening for Neural Tube Defects and Aneuploidy Techniques for Prenatal Diagnosis
Neonatal Screening
Enzyme Replacement and Pharmacologic Chaperone Therapies for Lysomal Storage Disease
Gene Therapy
Ethical and Social Issues in Clinical Genetics
Legal Issues in Genetics in Medicine
The Genetic Basis of Female Infertility
Male Infertility
Fetal Loss
Genetic Disorders of Prematurity
A Clinical Approach to the Dysmorphic Child
Clinical Teratology
Abnormal Mental Development
Abnormal Body Size and Proportion Susceptibility and Response to Infection
Transplantation Genetics
Down Syndrome and other Autosomal Trisomies
Sex Chromosome Abnormalities
Deletions and Other Structural Abnormalities of the Autosomes
Congenital Heart Disease
Cardiomyopathies
Pulmonary Arterial Hypertension
Hereditary Hemorrhagic Telangiectasia
Cutaneous Hamartoneoplastic Disorders
Disorders of the Venous System
Capillary Malformation / Arteriovenous Malformation
Hereditary Disorders or the Lymphatic System
Familial Dysrhythmias and Conduction Disorders
Molecular Basis of Human Hypertension
Preclampsia
Common Genetic Determinants of Coagulation and Fibronolysis
Genetics of Atherosclerotic Cardiovascular Disease
Cystic Fibrosis
Asthma
Hereditary Pulmonary Emphysema
Interstitial and Restrictive Pulmonary Disorders
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
Cystic Diseases of the Kidney
Nephrotic Disorders
Renal Tubular Disorders
Cancer of the Kidney and Urogenital Tract
Gastrointestinal Tract and Hepatobiliary Duct System
In?ammatory Bowel Disease
Bile Pigment Metabolism and its Disorders
Cancer of the Colon and Gastrointestinal Tract
Hemoglobinopathies and Thalassemias
Other Hereditary Red Blood Cell Disorders
Hemophilias and Other Disorders of Hemostasis
Rhesus and Other Fetomaternal Incompatibilities
Leukemias, Lymphomas and Other Related Disorders
Autoimmunity: Genetics and Immunological Mechanisms
Systemic Lupus Erythematosus
Rheumatoid Disease and Other In?ammatory Arthropathies
Amyloidosis and Other Protein Deposition Diseases
Immunode?ciency Disorders
Complement Defects
Disorders of Leukocyte Function
Genetic Disorders of the Pituitary Gland
Thyroid Disorders
Parathyroid Disorders
Diabetes Mellitus
Genetic Disorders of the Adrenal Gland
Disorders of the Gonads, Genital Tract and Genitalia
Cancer of the Breast and Female Reproductive Tract
Disorders of the Body Mass
Genetic Lipodystrophies
Amino Acid Metabolism
Disorders of Carbohydrate Metabolism
Congenital disorders of protein glycosylation
Purine and Pyrimidine Metabolism
Lipoprotein and Lipid Metabolism
Organic Acidemias and Disorders of Fatty Acid Oxidation
Vitamin D Metabolism or ActionInherited Porphyrias
Copper Metabolism
Iron Metabolism and Related Disorders
Mucopolysaccharidoses
Disorders of DNA Repair and Metabolism
Oligosaccharidoses and Allied Disorders
Gangliosidoses and Related Lipid Storage Diseases
Peroxisomal Disorders
Genetics of Personality
Fragile X Syndrome and Other Causes of X-linked Mental Handicap
Dyslexia and Other Speci?c Learning Disorders
Attention De?cit Hyperactivity Disorder and Other Behavioral Disorders
Autism & Autism Spectrum Alzheimer Disease and Other Dementias
Shizophrenia and Affective Disorders
Addictive Disorders
Neural Tube Defects Genetic Disorders of Cerebral Cortical Development
The Epilepsies
Basal Ganglia Disorders
The Hereditary Ataxias
Sleep Disorders
Hereditary Spastic Paraplegia
Autonomic and Sensory Disorders
The Phakomatoses
Multiple Sclerosis and Other Demyelinating Disorders
Cerebrovascular Disorders
Primary Tumors of the Nervous System
The muscular dystrophies
Hereditary Motor and Sensory Neuropathies Congenital (Structural) Myopathies
Spinal Muscular Atrophies Nondystrophic Myotonias and Periodic Paralyses
Myotonic Dystrophy
Hereditary and Autoimmune Myasthenias
Motor Neurone Disease
Color Vision Defects
Optic Atrophy and Congenital Blindness
Glaucoma
Defects of the Cornea
Anomalies of the Lens
Hereditary Retinal and Choroidal Degenerations
Strabismus
Retinoblastoma
Disorders of the Hair
Hereditary hearing impairment
Clefting/Craniofacial Syndromes/DentalCraniosynostosis
Abnormalities of Pigmentation
Ichthyosiform Dermatoses
Epidermolysis Bullosa
Ectodermal Dysplasias
Psoriasis and Related Disorders
Skin Cancer
Marfan Syndrome and Other Disorders of Fibrillin
Ehlers-Danlos Syndrome
Heritable Diseases Affecting the Elastic Tissues: Cutis Laxa, Pseudoxanthoma Elasticum and Related Disorders
Osteogenesis Imperfecta (and other disorders of bone matrix)
Disorders of Bone Density, Volume and Mineralization
Chondrodysplasias
Abnormalities of Bone Structure
The Dysostoses
Arthrogryposes (Multiple Congenital Contractures)
Common Skeletal Deformities
Hereditary Nonin?ammatory Arthropathies
Pathways-Cohesinopathies
Ciliopathies
History of Medical Genetics
Medicine in a Genetic Context
Nature and Frequency of Genetic Disease
Genomics and Proteomics
Genome Structure and Gene Expression
Epigenetics
Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences
Mendelian Inheritance Analysis of Genetic Linkage
Chromosomal Basis of Inheritance
Mitochondrial Genes in Degenerative Diseases, Cancer and Aging
Multifactoral Inheritance and Complex Traits
Population Genetics
Pathogenetics of Disease
Genetic Epidemiology
Human Developmental Genetics
Twins and Twinning
The Molecular Biology of Cancer
The Biologic Basis of Aging: Implications for Medical Genetics
Pharmacogenetics and Pharmacogenomics
Bioinformatics
Genetic Risk Assessment for Common Disease
Genetic Counseling and Clinical Risk Assessment
Cytogenetic Analysis
Diagnostic Molecular Genetics
Heterozygote Testing and Carrier Screening
Prenatal Screening for Neural Tube Defects and Aneuploidy Techniques for Prenatal Diagnosis
Neonatal Screening
Enzyme Replacement and Pharmacologic Chaperone Therapies for Lysomal Storage Disease
Gene Therapy
Ethical and Social Issues in Clinical Genetics
Legal Issues in Genetics in Medicine
The Genetic Basis of Female Infertility
Male Infertility
Fetal Loss
Genetic Disorders of Prematurity
A Clinical Approach to the Dysmorphic Child
Clinical Teratology
Abnormal Mental Development
Abnormal Body Size and Proportion Susceptibility and Response to Infection
Transplantation Genetics
Down Syndrome and other Autosomal Trisomies
Sex Chromosome Abnormalities
Deletions and Other Structural Abnormalities of the Autosomes
Congenital Heart Disease
Cardiomyopathies
Pulmonary Arterial Hypertension
Hereditary Hemorrhagic Telangiectasia
Cutaneous Hamartoneoplastic Disorders
Disorders of the Venous System
Capillary Malformation / Arteriovenous Malformation
Hereditary Disorders or the Lymphatic System
Familial Dysrhythmias and Conduction Disorders
Molecular Basis of Human Hypertension
Preclampsia
Common Genetic Determinants of Coagulation and Fibronolysis
Genetics of Atherosclerotic Cardiovascular Disease
Cystic Fibrosis
Asthma
Hereditary Pulmonary Emphysema
Interstitial and Restrictive Pulmonary Disorders
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
Cystic Diseases of the Kidney
Nephrotic Disorders
Renal Tubular Disorders
Cancer of the Kidney and Urogenital Tract
Gastrointestinal Tract and Hepatobiliary Duct System
In?ammatory Bowel Disease
Bile Pigment Metabolism and its Disorders
Cancer of the Colon and Gastrointestinal Tract
Hemoglobinopathies and Thalassemias
Other Hereditary Red Blood Cell Disorders
Hemophilias and Other Disorders of Hemostasis
Rhesus and Other Fetomaternal Incompatibilities
Leukemias, Lymphomas and Other Related Disorders
Autoimmunity: Genetics and Immunological Mechanisms
Systemic Lupus Erythematosus
Rheumatoid Disease and Other In?ammatory Arthropathies
Amyloidosis and Other Protein Deposition Diseases
Immunode?ciency Disorders
Complement Defects
Disorders of Leukocyte Function
Genetic Disorders of the Pituitary Gland
Thyroid Disorders
Parathyroid Disorders
Diabetes Mellitus
Genetic Disorders of the Adrenal Gland
Disorders of the Gonads, Genital Tract and Genitalia
Cancer of the Breast and Female Reproductive Tract
Disorders of the Body Mass
Genetic Lipodystrophies
Amino Acid Metabolism
Disorders of Carbohydrate Metabolism
Congenital disorders of protein glycosylation
Purine and Pyrimidine Metabolism
Lipoprotein and Lipid Metabolism
Organic Acidemias and Disorders of Fatty Acid Oxidation
Vitamin D Metabolism or ActionInherited Porphyrias
Copper Metabolism
Iron Metabolism and Related Disorders
Mucopolysaccharidoses
Disorders of DNA Repair and Metabolism
Oligosaccharidoses and Allied Disorders
Gangliosidoses and Related Lipid Storage Diseases
Peroxisomal Disorders
Genetics of Personality
Fragile X Syndrome and Other Causes of X-linked Mental Handicap
Dyslexia and Other Speci?c Learning Disorders
Attention De?cit Hyperactivity Disorder and Other Behavioral Disorders
Autism & Autism Spectrum Alzheimer Disease and Other Dementias
Shizophrenia and Affective Disorders
Addictive Disorders
Neural Tube Defects Genetic Disorders of Cerebral Cortical Development
The Epilepsies
Basal Ganglia Disorders
The Hereditary Ataxias
Sleep Disorders
Hereditary Spastic Paraplegia
Autonomic and Sensory Disorders
The Phakomatoses
Multiple Sclerosis and Other Demyelinating Disorders
Cerebrovascular Disorders
Primary Tumors of the Nervous System
The muscular dystrophies
Hereditary Motor and Sensory Neuropathies Congenital (Structural) Myopathies
Spinal Muscular Atrophies Nondystrophic Myotonias and Periodic Paralyses
Myotonic Dystrophy
Hereditary and Autoimmune Myasthenias
Motor Neurone Disease
Color Vision Defects
Optic Atrophy and Congenital Blindness
Glaucoma
Defects of the Cornea
Anomalies of the Lens
Hereditary Retinal and Choroidal Degenerations
Strabismus
Retinoblastoma
Disorders of the Hair
Hereditary hearing impairment
Clefting/Craniofacial Syndromes/DentalCraniosynostosis
Abnormalities of Pigmentation
Ichthyosiform Dermatoses
Epidermolysis Bullosa
Ectodermal Dysplasias
Psoriasis and Related Disorders
Skin Cancer
Marfan Syndrome and Other Disorders of Fibrillin
Ehlers-Danlos Syndrome
Heritable Diseases Affecting the Elastic Tissues: Cutis Laxa, Pseudoxanthoma Elasticum and Related Disorders
Osteogenesis Imperfecta (and other disorders of bone matrix)
Disorders of Bone Density, Volume and Mineralization
Chondrodysplasias
Abnormalities of Bone Structure
The Dysostoses
Arthrogryposes (Multiple Congenital Contractures)
Common Skeletal Deformities
Hereditary Nonin?ammatory Arthropathies
Pathways-Cohesinopathies
Ciliopathies
Medicine in a Genetic Context
Nature and Frequency of Genetic Disease
Genomics and Proteomics
Genome Structure and Gene Expression
Epigenetics
Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences
Mendelian Inheritance Analysis of Genetic Linkage
Chromosomal Basis of Inheritance
Mitochondrial Genes in Degenerative Diseases, Cancer and Aging
Multifactoral Inheritance and Complex Traits
Population Genetics
Pathogenetics of Disease
Genetic Epidemiology
Human Developmental Genetics
Twins and Twinning
The Molecular Biology of Cancer
The Biologic Basis of Aging: Implications for Medical Genetics
Pharmacogenetics and Pharmacogenomics
Bioinformatics
Genetic Risk Assessment for Common Disease
Genetic Counseling and Clinical Risk Assessment
Cytogenetic Analysis
Diagnostic Molecular Genetics
Heterozygote Testing and Carrier Screening
Prenatal Screening for Neural Tube Defects and Aneuploidy Techniques for Prenatal Diagnosis
Neonatal Screening
Enzyme Replacement and Pharmacologic Chaperone Therapies for Lysomal Storage Disease
Gene Therapy
Ethical and Social Issues in Clinical Genetics
Legal Issues in Genetics in Medicine
The Genetic Basis of Female Infertility
Male Infertility
Fetal Loss
Genetic Disorders of Prematurity
A Clinical Approach to the Dysmorphic Child
Clinical Teratology
Abnormal Mental Development
Abnormal Body Size and Proportion Susceptibility and Response to Infection
Transplantation Genetics
Down Syndrome and other Autosomal Trisomies
Sex Chromosome Abnormalities
Deletions and Other Structural Abnormalities of the Autosomes
Congenital Heart Disease
Cardiomyopathies
Pulmonary Arterial Hypertension
Hereditary Hemorrhagic Telangiectasia
Cutaneous Hamartoneoplastic Disorders
Disorders of the Venous System
Capillary Malformation / Arteriovenous Malformation
Hereditary Disorders or the Lymphatic System
Familial Dysrhythmias and Conduction Disorders
Molecular Basis of Human Hypertension
Preclampsia
Common Genetic Determinants of Coagulation and Fibronolysis
Genetics of Atherosclerotic Cardiovascular Disease
Cystic Fibrosis
Asthma
Hereditary Pulmonary Emphysema
Interstitial and Restrictive Pulmonary Disorders
Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)
Cystic Diseases of the Kidney
Nephrotic Disorders
Renal Tubular Disorders
Cancer of the Kidney and Urogenital Tract
Gastrointestinal Tract and Hepatobiliary Duct System
In?ammatory Bowel Disease
Bile Pigment Metabolism and its Disorders
Cancer of the Colon and Gastrointestinal Tract
Hemoglobinopathies and Thalassemias
Other Hereditary Red Blood Cell Disorders
Hemophilias and Other Disorders of Hemostasis
Rhesus and Other Fetomaternal Incompatibilities
Leukemias, Lymphomas and Other Related Disorders
Autoimmunity: Genetics and Immunological Mechanisms
Systemic Lupus Erythematosus
Rheumatoid Disease and Other In?ammatory Arthropathies
Amyloidosis and Other Protein Deposition Diseases
Immunode?ciency Disorders
Complement Defects
Disorders of Leukocyte Function
Genetic Disorders of the Pituitary Gland
Thyroid Disorders
Parathyroid Disorders
Diabetes Mellitus
Genetic Disorders of the Adrenal Gland
Disorders of the Gonads, Genital Tract and Genitalia
Cancer of the Breast and Female Reproductive Tract
Disorders of the Body Mass
Genetic Lipodystrophies
Amino Acid Metabolism
Disorders of Carbohydrate Metabolism
Congenital disorders of protein glycosylation
Purine and Pyrimidine Metabolism
Lipoprotein and Lipid Metabolism
Organic Acidemias and Disorders of Fatty Acid Oxidation
Vitamin D Metabolism or ActionInherited Porphyrias
Copper Metabolism
Iron Metabolism and Related Disorders
Mucopolysaccharidoses
Disorders of DNA Repair and Metabolism
Oligosaccharidoses and Allied Disorders
Gangliosidoses and Related Lipid Storage Diseases
Peroxisomal Disorders
Genetics of Personality
Fragile X Syndrome and Other Causes of X-linked Mental Handicap
Dyslexia and Other Speci?c Learning Disorders
Attention De?cit Hyperactivity Disorder and Other Behavioral Disorders
Autism & Autism Spectrum Alzheimer Disease and Other Dementias
Shizophrenia and Affective Disorders
Addictive Disorders
Neural Tube Defects Genetic Disorders of Cerebral Cortical Development
The Epilepsies
Basal Ganglia Disorders
The Hereditary Ataxias
Sleep Disorders
Hereditary Spastic Paraplegia
Autonomic and Sensory Disorders
The Phakomatoses
Multiple Sclerosis and Other Demyelinating Disorders
Cerebrovascular Disorders
Primary Tumors of the Nervous System
The muscular dystrophies
Hereditary Motor and Sensory Neuropathies Congenital (Structural) Myopathies
Spinal Muscular Atrophies Nondystrophic Myotonias and Periodic Paralyses
Myotonic Dystrophy
Hereditary and Autoimmune Myasthenias
Motor Neurone Disease
Color Vision Defects
Optic Atrophy and Congenital Blindness
Glaucoma
Defects of the Cornea
Anomalies of the Lens
Hereditary Retinal and Choroidal Degenerations
Strabismus
Retinoblastoma
Disorders of the Hair
Hereditary hearing impairment
Clefting/Craniofacial Syndromes/DentalCraniosynostosis
Abnormalities of Pigmentation
Ichthyosiform Dermatoses
Epidermolysis Bullosa
Ectodermal Dysplasias
Psoriasis and Related Disorders
Skin Cancer
Marfan Syndrome and Other Disorders of Fibrillin
Ehlers-Danlos Syndrome
Heritable Diseases Affecting the Elastic Tissues: Cutis Laxa, Pseudoxanthoma Elasticum and Related Disorders
Osteogenesis Imperfecta (and other disorders of bone matrix)
Disorders of Bone Density, Volume and Mineralization
Chondrodysplasias
Abnormalities of Bone Structure
The Dysostoses
Arthrogryposes (Multiple Congenital Contractures)
Common Skeletal Deformities
Hereditary Nonin?ammatory Arthropathies
Pathways-Cohesinopathies
Ciliopathies