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Autosomal recessive inheritance

MedGen UID:
141025
•Concept ID:
C0441748
•
Genetic Function; Intellectual Product
Synonyms: Autosomal recessive; Autosomal Recessive; Autosomal recessive.
SNOMED CT: Autosomal recessive inheritance (258211005); Autosomal recessive (258211005)
 
HPO: HP:0000007
Orphanet: ORPHA409930

Definition

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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Autosomal recessive inheritance

Professional guidelines

PubMed

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Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.
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