Structured Summary
Abstract
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.
MeSH Record
Classification
Broader headings
Narrower headings
- Alagille Syndrome
- alpha 1-Antitrypsin Deficiency
- Ataxia Telangiectasia
- Autoimmune Lymphoproliferative Syndrome
- Brugada Syndrome
- CADASIL
- Camurati-Engelmann Syndrome
- CHARGE Syndrome
- Cherubism
- Chromosome Disorders
- Ciliopathies
- Congenital Adrenal Hyperplasia
- Congenital Myasthenic Syndromes
- Congenital Pain Insensitivity
- Costello Syndrome
- Cystic Fibrosis
- Donohue Syndrome
- Dwarfism
- Familial Dysalbuminemic Hyperthyroxinemia
- Familial Multiple Lipomatosis
- Frasier Syndrome
- GATA2 Deficiency
- Genetic Skin Diseases
- Hajdu-Cheney Syndrome
- Hemoglobinopathies
- Hemolytic Congenital Anemia
- Hereditary Autoinflammatory Diseases
- Hereditary Eye Diseases
- Hereditary Neoplastic Syndromes
- Hyper-IgM Immunodeficiency Syndrome
- Hypertrophic Familial Cardiomyopathy
- Hypoplastic Congenital Anemia
- Imprinting Disorders
- Inborn Errors Metabolism
- Inborn Errors Renal Tubular Transport
- Inherited Blood Coagulation Disorders
- Kallmann Syndrome
- Kartagener Syndrome
- Laminopathies
- Lennox Gastaut Syndrome
- Loeys-Dietz Syndrome
- Marfan Syndrome
- Muscular Dystrophies
- Nail-Patella Syndrome
- Nervous System Heredodegenerative Disorders
- Oculocerebrorenal Syndrome
- Orofaciodigital Syndromes
- Osteochondrodysplasias
- Osteogenesis Imperfecta
- Pelger-Huet Anomaly
- Primary Hypertrophic Osteoarthropathy
- Primary Immunodeficiency Diseases
- Pycnodysostosis
- Werner Syndrome
- X-Linked Genetic Diseases
- Y-Linked Genetic Diseases
- Yellow Nail Syndrome
Related Concepts
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MeSH Record
See Also
MeSH Record
Synonyms
22 entry terms
- Genetic Diseases, Inborn
- Disease, Inborn Genetic
- Diseases, Inborn Genetic
- Genetic Disease, Inborn
- Inborn Genetic Disease
- Genetic Diseases
- Genetic Disorders
- Hereditary Disease
- Hereditary Diseases
- Single-Gene Defects
- Defect, Single-Gene
- Defects, Single-Gene
- Disease, Genetic
- Disease, Hereditary
- Diseases, Genetic
- Diseases, Hereditary
- Disorder, Genetic
- Disorders, Genetic
- Genetic Disease
- Genetic Disorder
- Single Gene Defects
- Single-Gene Defect
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
Indexing Annotation
general; prefer /genet with specific diseases
MeSH Record
History Note
2002
MeSH Hierarchy
Tree Number
AMA Style
References
- National Library of Medicine. Inborn Genetic Diseases. Medical Subject Headings (MeSH). 2026. Unique ID D030342. http://id.nlm.nih.gov/mesh/2026/D030342
- Inborn Genetic Diseases. In: Wikipedia. https://en.wikipedia.org/wiki/Genetic_disorder
- Inborn Genetic Diseases. In: Wikidata. https://www.wikidata.org/wiki/Q200779