Autosomal recessive inheritance

Autosomal recessive — Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop.


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Autosomal recessive inheritance: A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).2

Causes of Autosomal recessive inheritance

Causes may include:3 Causes of Autosomal Recessive Inheritance:

Categories for Autosomal recessive inheritance

Category of Autosomal recessive inheritance:

  • Mode of inheritance

Synonyms and Related Terms

Synonyms of Autosomal recessive inheritance:

  • Autosomal recessive
  • Autosomal recessive form
  • Autosomal recessive predisposition

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  1. Source: RDCRN (NCATS/NIH): cms/ bbd/ Learn-More/ Glossary
  2. Source: Human Phenotype Ontology
  3. ibid.
  4. ibid.
  5. ibid.
  6. [from HPO]
  7. Source: GTR (NCBI/NIH): gtr/ conditions/ CN002016/ 
  8. Source: NIDDK (NIH): health-information/ diabetes/ types/ monogenic-neonatal-mellitus-mody
  9. Source: GTR (NCBI/NIH): gtr/ conditions/ CN028786/ 
  10. Source: GTR (NCBI/NIH): gtr/ conditions/ C0342727/ 

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