 Genetic Diseases, Inborn
"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
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| MeSH Number(s) |
C16.320
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| Concept/Terms |
Genetic Diseases, Inborn- Genetic Diseases, Inborn
- Disease, Inborn Genetic
- Diseases, Inborn Genetic
- Genetic Disease, Inborn
- Inborn Genetic Disease
- Inborn Genetic Diseases
Single-Gene Defects- Single-Gene Defects
- Defect, Single-Gene
- Defects, Single-Gene
- Single Gene Defects
- Single-Gene Defect
Hereditary Diseases- Hereditary Diseases
- Hereditary Disease
- Disease, Hereditary
- Diseases, Hereditary
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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
- Costello Syndrome
- Cystic Fibrosis
- Donohue Syndrome
- Dwarfism
- Eye Diseases, Hereditary
- 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
- Osteoarthropathy, Primary Hypertrophic
- Osteochondrodysplasias
- Osteogenesis Imperfecta
- Pain Insensitivity, Congenital
- Pelger-Huet Anomaly
- Polycystic Kidney, Autosomal Recessive
- 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 |
|---|
| 1998 | 1 | 0 | 1 | | 2001 | 0 | 1 | 1 | | 2007 | 1 | 0 | 1 | | 2010 | 0 | 1 | 1 | | 2011 | 1 | 0 | 1 | | 2012 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2015 | 3 | 0 | 3 | | 2017 | 1 | 1 | 2 | | 2018 | 1 | 0 | 1 | | 2019 | 1 | 1 | 2 | | 2021 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Genetic Diseases, Inborn" by people in Profiles.
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Teran NA, Nachun DC, Eulalio T, Ferraro NM, Smail C, Rivas MA, Montgomery SB. Nonsense-mediated decay is highly stable across individuals and tissues. Am J Hum Genet. 2021 08 05; 108(8):1401-1408.
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Bastarache L, Hughey JJ, Goldstein JA, Bastraache JA, Das S, Zaki NC, Zeng C, Tang LA, Roden DM, Denny JC. Improving the phenotype risk score as a scalable approach to identifying patients with Mendelian disease. J Am Med Inform Assoc. 2019 12 01; 26(12):1437-1447.
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Ahmed IA, Farooqi MS, Vander Lugt MT, Boklan J, Rose M, Friehling ED, Triplett B, Lieuw K, Saldana BD, Smith CM, Schwartz JR, Goyal RK. Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations. Biol Blood Marrow Transplant. 2019 11; 25(11):2186-2196.
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Slowik V, Monroe EJ, Friedman SD, Hsu EK, Horslen S. Pressure gradients, laboratory changes, and outcomes with transjugular intrahepatic portosystemic shunts in pediatric portal hypertension. Pediatr Transplant. 2019 05; 23(3):e13387.
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Thiffault I, Farrow E, Zellmer L, Berrios C, Miller N, Gibson M, Caylor R, Jenkins J, Faller D, Soden S, Saunders C. Clinical genome sequencing in an unbiased pediatric cohort. Genet Med. 2019 02; 21(2):303-310.
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Fowler SA, Saunders CJ, Hoffman MA. Variation among Consent Forms for Clinical Whole Exome Sequencing. J Genet Couns. 2018 02; 27(1):104-114.
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Verbitsky M, Kogon AJ, Matheson M, Hooper SR, Wong CS, Warady BA, Furth SL, Gharavi AG. Genomic Disorders and Neurocognitive Impairment in Pediatric CKD. J Am Soc Nephrol. 2017 Aug; 28(8):2303-2309.
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Smith LD, Willig LK, Kingsmore SF. Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders. Cold Spring Harb Perspect Med. 2015 Dec 18; 6(2):a023168.
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Petrikin JE, Willig LK, Smith LD, Kingsmore SF. Rapid whole genome sequencing and precision neonatology. Semin Perinatol. 2015 Dec; 39(8):623-31.
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Miller NA, Farrow EG, Gibson M, Willig LK, Twist G, Yoo B, Marrs T, Corder S, Krivohlavek L, Walter A, Petrikin JE, Saunders CJ, Thiffault I, Soden SE, Smith LD, Dinwiddie DL, Herd S, Cakici JA, Catreux S, Ruehle M, Kingsmore SF. A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases. Genome Med. 2015 Sep 30; 7:100.
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