loading...| Preferred Name |
Genetic Disorders |
| Definitions |
<p>Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs.</p> <p>Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder.</p> <p>You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.</p> <p>There are three types of genetic disorders:</p> <ul> <li>Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.</li> <li>Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder.</li> <li>Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example.</li> </ul> <p><a href="https://medlineplus.gov/genetictesting.html">Genetic tests</a> on blood and other tissue can identify genetic disorders.</p> <p class="">NIH: National Library of Medicine</p> |
| ID |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019247 |
| cui |
C0019247 |
| Date created |
01/10/2000 |
| definition |
Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs. Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime. There are three types of genetic disorders:
Genetic tests on blood and other tissue can identify genetic disorders. NIH: National Library of Medicine |
| Inverse of RQ | |
| Mapped to | |
| MP OTHER LANGUAGE URL |
Spanish https://medlineplus.gov/spanish/geneticdisorders.html |
| MP PRIMARY INSTITUTE URL |
Eunice Kennedy Shriver National Institute of Child Health and Human Development https://www.nichd.nih.gov/Pages/index.aspx |
| notation |
C0019247 |
| prefLabel |
Genetic Disorders |
| Related to |
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0018995 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0158646 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0678236 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0679560 http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456541 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002895 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0029434 http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456542 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0220810 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0031485 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0266449 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016667 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0007570 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0023520 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0017382 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0032897 http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013080 |
| Scope Statement |
A mutation in a person's genes can cause a medical condition called a genetic disorder. Learn about the types and how they are detected.https://medlineplus.gov/geneticdisorders.html |
| tui |
T047 |
| subClassOf |