MedlinePlus Health Topics

Last uploaded: January 29, 2019
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 >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:

  • Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.
  • 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.
  • 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.

Genetic tests on blood and other tissue can identify genetic disorders.

NIH: National Library of Medicine

Inverse of RQ

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0033300

Inverse of SIB

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0018995

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0007789

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0158646

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0678236

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0041341

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0242225

http://purl.bioontology.org/ontology/MEDLINEPLUS/C2939465

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0019562

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0009015

http://purl.bioontology.org/ontology/MEDLINEPLUS/C2963184

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0679560

http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456541

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0007959

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0026850

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0080178

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0018798

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/C0019202

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0220810

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0221757

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0040517

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0271097

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0041408

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0162678

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0017205

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0031485

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0025517

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0266449

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016667

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0004135

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0684275

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0026847

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0003803

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0016719

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0023520

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013720

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0022735

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0035372

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0027617

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0039373

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0017382

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0376634

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0020255

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0032897

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013080

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024796

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0010674

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013336

http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456692

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0241889

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0020179

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0015923

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0027794

Mapped to

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0950123

MP HEALTH TOPIC URL

https://medlineplus.gov/geneticdisorders.html

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

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0010674

http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013336

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MEDLINEPLUS/C1456603

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D030342 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/MTHU021573 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/MTHU021573 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/LNC/LP56740-1 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/LP56740-1 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/LNC/MTHU025721 Logical Observation Identifier Names and Codes CUI