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Inborn Genetic Diseases (Disease, Hereditary)

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.
Also Known As:
Disease, Hereditary; Hereditary Disease; Genetic Diseases, Inborn; Genetic Diseases; Genetic Disorders; Single-Gene Defects; Defect, Single-Gene; Defects, Single-Gene; Disease, Genetic; Disease, Inborn Genetic; Diseases, Genetic; Diseases, Hereditary; Diseases, Inborn Genetic; Disorder, Genetic; Disorders, Genetic; Genetic Disease; Genetic Disease, Inborn; Genetic Disorder; Inborn Genetic Disease; Single Gene Defects; Single-Gene Defect; Hereditary Diseases
Networked: 11939 relevant articles (209 outcomes, 586 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Neoplasms (Cancer)
2. Cystic Fibrosis (Mucoviscidosis)
3. Infections
4. Communicable Diseases (Infectious Diseases)
5. Virus Diseases (Viral Diseases)

Experts

1. Giugliani, Roberto: 18 articles (09/2022 - 03/2010)
2. Sahin, Mustafa: 17 articles (01/2022 - 04/2011)
3. Yokota, Toshifumi: 17 articles (01/2022 - 09/2012)
4. Cooper, David N: 17 articles (01/2020 - 03/2003)
5. Baasov, Timor: 17 articles (01/2017 - 12/2006)
6. Kaplan, Frederick S: 16 articles (01/2022 - 04/2003)
7. Shore, Eileen M: 16 articles (01/2022 - 04/2003)
8. de Vries, Petrus J: 16 articles (01/2022 - 02/2007)
9. Férec, Claude: 14 articles (06/2022 - 04/2004)
10. Sakuraba, Hitoshi: 13 articles (01/2021 - 01/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Inborn Genetic Diseases:
1. Proteins (Proteins, Gene)FDA Link
2. DNA (Deoxyribonucleic Acid)IBA
3. RNA (Ribonucleic Acid)IBA
4. Small Interfering RNA (siRNA)IBA
5. Nonsense Codon (Nonsense Mutation)IBA
6. Nucleic AcidsIBA
7. EnzymesIBA
8. Biomarkers (Surrogate Marker)IBA
9. CopperIBA
10. Antisense OligonucleotidesIBA

Therapies and Procedures

1. Therapeutics
2. Enzyme Replacement Therapy
3. Bone Marrow Transplantation (Transplantation, Bone Marrow)
4. Transplantation
5. Drug Therapy (Chemotherapy)