"Genetic Diseases, Inborn" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D030342
|
| MeSH Number(s) |
C16.320
|
| Concept/Terms |
Genetic Diseases, Inborn- Genetic Diseases, Inborn
- Disease, Inborn Genetic
- Diseases, Inborn Genetic
- Genetic Disease, Inborn
- Inborn Genetic Disease
- Inborn Genetic Diseases
Hereditary Diseases- Hereditary Diseases
- Hereditary Disease
- Disease, Hereditary
- Diseases, Hereditary
- Genetic Disorders
- Disorder, Genetic
- Disorders, Genetic
- Genetic Disorder
- Genetic Diseases
- Disease, Genetic
- Diseases, Genetic
- Genetic Disease
Single-Gene Defects- Single-Gene Defects
- Defect, Single-Gene
- Defects, Single-Gene
- Single Gene Defects
- Single-Gene Defect
|
Below are MeSH descriptors whose meaning is more general than "Genetic Diseases, Inborn".
Below are MeSH descriptors whose meaning is more specific than "Genetic Diseases, Inborn".
- Genetic Diseases, Inborn
- Adrenal Hyperplasia, Congenital
- Alagille Syndrome
- alpha 1-Antitrypsin Deficiency
- Anemia, Hemolytic, Congenital
- Anemia, Hypoplastic, Congenital
- Angioedemas, Hereditary
- Ataxia Telangiectasia
- Autoimmune Lymphoproliferative Syndrome
- Blood Coagulation Disorders, Inherited
- Brugada Syndrome
- CADASIL
- Camurati-Engelmann Syndrome
- Cardiomyopathy, Hypertrophic, Familial
- CHARGE Syndrome
- Cherubism
- Chromosome Disorders
- Ciliopathies
- Costello Syndrome
- Cystic Fibrosis
- Donohue Syndrome
- Dwarfism
- Eye Diseases, Hereditary
- Familial Multiple Lipomatosis
- Frasier Syndrome
- Genetic Diseases, X-Linked
- Genetic Diseases, Y-Linked
- Hajdu-Cheney Syndrome
- Hemoglobinopathies
- Hereditary Autoinflammatory Diseases
- Heredodegenerative Disorders, Nervous System
- Hyper-IgM Immunodeficiency Syndrome
- Hyperthyroxinemia, Familial Dysalbuminemic
- Kallmann Syndrome
- Kartagener Syndrome
- Lennox Gastaut Syndrome
- Loeys-Dietz Syndrome
- Marfan Syndrome
- Metabolism, Inborn Errors
- Muscular Dystrophies
- Myasthenic Syndromes, Congenital
- Nail-Patella Syndrome
- Neoplastic Syndromes, Hereditary
- Oculocerebrorenal Syndrome
- Orofaciodigital Syndromes
- Osteoarthropathy, Primary Hypertrophic
- Osteochondrodysplasias
- Osteogenesis Imperfecta
- Pain Insensitivity, Congenital
- Pelger-Huet Anomaly
- Polycystic Kidney Diseases
- Pycnodysostosis
- Skin Diseases, Genetic
- Werner Syndrome
- Yellow Nail Syndrome
This graph shows the total number of publications written about "Genetic Diseases, Inborn" by people in this website by year, and whether "Genetic Diseases, Inborn" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1994 | 1 | 0 | 1 |
| 1995 | 2 | 2 | 4 |
| 1996 | 2 | 6 | 8 |
| 1997 | 1 | 1 | 2 |
| 1998 | 1 | 4 | 5 |
| 1999 | 0 | 1 | 1 |
| 2000 | 2 | 2 | 4 |
| 2001 | 1 | 1 | 2 |
| 2002 | 3 | 1 | 4 |
| 2003 | 1 | 1 | 2 |
| 2004 | 1 | 1 | 2 |
| 2005 | 1 | 1 | 2 |
| 2006 | 6 | 0 | 6 |
| 2007 | 7 | 2 | 9 |
| 2008 | 3 | 3 | 6 |
| 2009 | 1 | 2 | 3 |
| 2010 | 1 | 0 | 1 |
| 2011 | 4 | 0 | 4 |
| 2012 | 6 | 1 | 7 |
| 2013 | 6 | 0 | 6 |
| 2014 | 6 | 1 | 7 |
| 2015 | 9 | 2 | 11 |
| 2016 | 9 | 1 | 10 |
| 2017 | 12 | 2 | 14 |
| 2018 | 10 | 0 | 10 |
| 2019 | 8 | 2 | 10 |
| 2020 | 5 | 2 | 7 |
| 2021 | 8 | 4 | 12 |
| 2024 | 2 | 4 | 6 |
To return to the timeline,
click here.
Below are the most recent publications written about "Genetic Diseases, Inborn" by people in Profiles.
-
Implementation of a dyadic nomenclature for monogenic diseases. Am J Hum Genet. 2024 Sep 05; 111(9):1810-1818.
-
Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms. Annu Rev Biomed Data Sci. 2024 Aug; 7(1):31-50.
-
The impact of clinical genome sequencing in a global population with suspected rare genetic disease. Am J Hum Genet. 2024 07 11; 111(7):1271-1281.
-
Lethal phenotypes in Mendelian disorders. Genet Med. 2024 Jul; 26(7):101141.
-
Human embryonic genetic mosaicism and its effects on development and disease. Nat Rev Genet. 2024 Oct; 25(10):698-714.
-
Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis. Clin Genet. 2024 Jul; 106(1):95-101.
-
Prevalence, Clinical Features, Neuroimaging, and Genetic Findings in Children With Ataxic Cerebral Palsy in Europe. Neurology. 2023 Dec 12; 101(24):e2509-e2521.
-
Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity. Front Immunol. 2021; 12:796065.
-
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial. JAMA Pediatr. 2021 12 01; 175(12):1218-1226.
-
Inborn errors of immunity: Recent progress. J Allergy Clin Immunol. 2021 12; 148(6):1442-1450.