Genetic Diseases, Inborn

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.

Year introduced: 2002

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Subheadings:

Restrict to MeSH Major Topic.

Do not include MeSH terms found below this term in the MeSH hierarchy.

Tree Number(s): C16.320

MeSH Unique ID: D030342

Entry Terms:

• Disease, Inborn Genetic
• Diseases, Inborn Genetic
• Genetic Disease, Inborn
• Inborn Genetic Disease
• Inborn Genetic Diseases
• Hereditary Diseases
• Genetic Disorders
• Disorder, Genetic
• Disorders, Genetic
• Genetic Disorder
• Genetic Diseases
• Disease, Genetic
• Diseases, Genetic
• Genetic Disease
• Hereditary Disease
• Disease, Hereditary
• Diseases, Hereditary
• Single-Gene Defects
• Defect, Single-Gene
• Defects, Single-Gene
• Single-Gene Defect
• Single Gene Defects

See Also:

• Genetics, Medical

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Adrenal Hyperplasia, Congenital
Alagille Syndrome
alpha 1-Antitrypsin Deficiency
Anemia, Hemolytic, Congenital
Anemia, Dyserythropoietic, Congenital
Anemia, Hemolytic, Congenital Nonspherocytic
Anemia, Sickle Cell +
Elliptocytosis, Hereditary
Glucosephosphate Dehydrogenase Deficiency +
Hemoglobin C Disease
Spherocytosis, Hereditary
Thalassemia +
Anemia, Hypoplastic, Congenital
Anemia, Diamond-Blackfan
Fanconi Anemia
Ataxia Telangiectasia
Autoimmune Lymphoproliferative Syndrome
Blood Coagulation Disorders, Inherited
Activated Protein C Resistance
Afibrinogenemia
Antithrombin III Deficiency
Bernard-Soulier Syndrome
Factor V Deficiency
Factor VII Deficiency
Factor X Deficiency
Factor XI Deficiency
Factor XII Deficiency
Factor XIII Deficiency
Gray Platelet Syndrome
Hemophilia A
Hemophilia B
Hermanski-Pudlak Syndrome
Hypoprothrombinemias
Protein C Deficiency
Thrombasthenia
von Willebrand Diseases +
Wiskott-Aldrich Syndrome
Brugada Syndrome
CADASIL
Camurati-Engelmann Syndrome
Cardiomyopathy, Hypertrophic, Familial
CHARGE Syndrome
Cherubism
Chromosome Disorders
22q11 Deletion Syndrome +
Angelman Syndrome
Beckwith-Wiedemann Syndrome
Branchio-Oto-Renal Syndrome
Cri-du-Chat Syndrome
De Lange Syndrome
Down Syndrome
Holoprosencephaly
Jacobsen Distal 11q Deletion Syndrome
Prader-Willi Syndrome
Rubinstein-Taybi Syndrome
Sex Chromosome Disorders +
Silver-Russell Syndrome
Smith-Magenis Syndrome
Sotos Syndrome
Trisomy 13 Syndrome
Trisomy 18 Syndrome
WAGR Syndrome
Williams Syndrome
Wolf-Hirschhorn Syndrome
Ciliopathies
Alstrom Syndrome
Bardet-Biedl Syndrome
Caroli Disease
Ciliary Motility Disorders +
Polycystic Kidney Diseases +
von Hippel-Lindau Disease
Costello Syndrome
Cystic Fibrosis
Donohue Syndrome
Dwarfism
Achondroplasia +
Cockayne Syndrome
Congenital Hypothyroidism
Laron Syndrome
Mulibrey Nanism
Silver-Russell Syndrome
Eye Diseases, Hereditary
Aicardi Syndrome
Albinism +
Aniridia +
Choroideremia
Cone-Rod Dystrophies
Corneal Dystrophies, Hereditary +
Duane Retraction Syndrome
Familial Exudative Vitreoretinopathies
Graves Ophthalmopathy
Gyrate Atrophy
Optic Atrophies, Hereditary +
Optic Nerve Hypoplasia
Retinal Dysplasia
Retinitis Pigmentosa +
Stargardt Disease
Vitelliform Macular Dystrophy
Weill-Marchesani Syndrome
Familial Multiple Lipomatosis
Frasier Syndrome
GATA2 Deficiency
Genetic Diseases, X-Linked
Aicardi Syndrome
Androgen-Insensitivity Syndrome
Barth Syndrome
Bulbo-Spinal Atrophy, X-Linked
Choroideremia
Dent Disease
Dyskeratosis Congenita
Ectodermal Dysplasia 1, Anhidrotic
Fabry Disease
Focal Dermal Hypoplasia
Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type VIII
Granulomatous Disease, Chronic
Hemophilia B
Hyper-IgM Immunodeficiency Syndrome, Type 1
Ichthyosis, X-Linked
Isolated Noncompaction of the Ventricular Myocardium
Mental Retardation, X-Linked +
Muscular Dystrophy, Duchenne
Muscular Dystrophy, Emery-Dreifuss +
Oculocerebrorenal Syndrome
Ornithine Carbamoyltransferase Deficiency Disease
Pelizaeus-Merzbacher Disease
Wiskott-Aldrich Syndrome
X-Linked Combined Immunodeficiency Diseases
Genetic Diseases, Y-Linked
Hajdu-Cheney Syndrome
Hemoglobinopathies
Anemia, Sickle Cell +
Hemoglobin C Disease
Thalassemia +
Hereditary Autoinflammatory Diseases
Behcet Syndrome
Cryopyrin-Associated Periodic Syndromes
Familial Mediterranean Fever
Mevalonate Kinase Deficiency
Heredodegenerative Disorders, Nervous System
Alexander Disease
Amyloid Neuropathies, Familial
Bulbo-Spinal Atrophy, X-Linked
Canavan Disease
Cockayne Syndrome
Dystonia Musculorum Deformans
Gerstmann-Straussler-Scheinker Disease
Hepatolenticular Degeneration
Hereditary Central Nervous System Demyelinating Diseases
Hereditary Sensory and Autonomic Neuropathies +
Hereditary Sensory and Motor Neuropathy +
Huntington Disease
Lafora Disease
Mental Retardation, X-Linked +
Myotonia Congenita
Myotonic Dystrophy
Neuroacanthocytosis
Neurofibromatoses +
Neuronal Ceroid-Lipofuscinoses
Optic Atrophies, Hereditary +
Pantothenate Kinase-Associated Neurodegeneration
Spinal Muscular Atrophies of Childhood
Spinocerebellar Degenerations +
Tourette Syndrome
Tuberous Sclerosis
Unverricht-Lundborg Syndrome
Hyper-IgM Immunodeficiency Syndrome
Hyperthyroxinemia, Familial Dysalbuminemic
Imprinting Disorders
Angelman Syndrome
Beckwith-Wiedemann Syndrome
Prader-Willi Syndrome
Silver-Russell Syndrome
Kallmann Syndrome
Kartagener Syndrome
Laminopathies
Autosomal Emery-Dreifuss Muscular Dystrophy
Cardiomyopathy, Dilated
Lipodystrophy, Familial Partial
Progeria
Lennox Gastaut Syndrome
Loeys-Dietz Syndrome
Marfan Syndrome
Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors +
Amino Acid Transport Disorders, Inborn +
Amyloidosis, Familial +
Brain Diseases, Metabolic, Inborn +
Carbohydrate Metabolism, Inborn Errors +
Cytochrome-c Oxidase Deficiency
Hyperbilirubinemia, Hereditary +
Lipid Metabolism, Inborn Errors +
Lysosomal Storage Diseases +
Metal Metabolism, Inborn Errors +
Peroxisomal Disorders +
Progeria
Purine-Pyrimidine Metabolism, Inborn Errors +
Renal Tubular Transport, Inborn Errors
Steroid Metabolism, Inborn Errors +
Muscular Dystrophies
Distal Myopathies
Glycogen Storage Disease Type VII
Muscular Dystrophies, Limb-Girdle +
Muscular Dystrophy, Duchenne
Muscular Dystrophy, Emery-Dreifuss +
Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Oculopharyngeal
Myotonic Dystrophy
Walker-Warburg Syndrome
Myasthenic Syndromes, Congenital
Nail-Patella Syndrome
Neoplastic Syndromes, Hereditary
Adenomatous Polyposis Coli +
Basal Cell Nevus Syndrome
Birt-Hogg-Dube Syndrome
Colorectal Neoplasms, Hereditary Nonpolyposis +
Dysplastic Nevus Syndrome
Exostoses, Multiple Hereditary
Hamartoma Syndrome, Multiple
Hereditary Breast and Ovarian Cancer Syndrome
Li-Fraumeni Syndrome
Multiple Endocrine Neoplasia +
Neurofibromatoses +
Peutz-Jeghers Syndrome
Tuberous Sclerosis
Wilms Tumor +
Oculocerebrorenal Syndrome
Orofaciodigital Syndromes
Osteoarthropathy, Primary Hypertrophic
Osteochondrodysplasias
Osteogenesis Imperfecta
Pain Insensitivity, Congenital
Pelger-Huet Anomaly
Primary Immunodeficiency Diseases
Ataxia Telangiectasia
Bloom Syndrome
Chediak-Higashi Syndrome
Hereditary Complement Deficiency Diseases +
Hyper-IgM Immunodeficiency Syndrome +
Job Syndrome
Leukocyte-Adhesion Deficiency Syndrome
Severe Combined Immunodeficiency +
Wiskott-Aldrich Syndrome
Pycnodysostosis
Renal Tubular Transport, Inborn Errors
Acidosis, Renal Tubular
Dent Disease
Fanconi Syndrome
Gitelman Syndrome
Glycosuria, Renal
Hypophosphatemia, Familial +
Liddle Syndrome
Oculocerebrorenal Syndrome
Pseudohypoaldosteronism
Renal Aminoacidurias +
Skin Diseases, Genetic
Albinism +
Cutis Laxa
Darier Disease
Dermatitis, Atopic
Dyskeratosis Congenita
Ectodermal Dysplasia +
Ehlers-Danlos Syndrome +
Epidermolysis Bullosa +
Erythrokeratodermia Variabilis
Hyaline Fibromatosis Syndrome
Ichthyosiform Erythroderma, Congenital +
Ichthyosis Bullosa of Siemens
Ichthyosis Vulgaris
Ichthyosis, X-Linked
Incontinentia Pigmenti
Keratoderma, Palmoplantar +
Leukokeratosis, Hereditary Mucosal
Lipoid Proteinosis of Urbach and Wiethe
Monilethrix
Netherton Syndrome
Pemphigus, Benign Familial
Porokeratosis
Porphyria, Erythropoietic
Porphyrias, Hepatic +
Prolidase Deficiency
Pseudoxanthoma Elasticum
Rothmund-Thomson Syndrome
Sjogren-Larsson Syndrome
Trichothiodystrophy Syndromes
Xeroderma Pigmentosum
Werner Syndrome
Yellow Nail Syndrome