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NALT Concept Space
U.S. Department of Agriculture

NALT Full

Concept information

  1. Research, Technology, Methods
  2. genetic resources
  3. genotype
  4. gene dosage
  5. haploinsufficiency
  1. Natural Resources, Conservation, Environment
  2. biological resources
  3. genetic resources
  4. genotype
  5. gene dosage
  6. haploinsufficiency
  1. Fields of Study
  2. molecular genetics
  3. mutation
  4. allelic imbalance
  5. loss of heterozygosity
  6. haploinsufficiency

Preferred term

haploinsufficiency

Type

  • Topic

Definition

  • Information A copy number variation that results in reduced gene dosage due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.

    Source: Medical Subject Headings

    Type: Concept definition

Broader concept

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URI

https://lod.nal.usda.gov/nalt/324466

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RDF/XML TURTLE JSON-LD Created 9/18/18, last modified 11/14/18