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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Autosomal recessive inheritance
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Accession:EFO:HP:0000007 term browser browse the term
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).
Synonyms:exact_synonym: Autosomal recessive;   biallelic_autosomal
 related_synonym: Autosomal recessive form;   Autosomal recessive predisposition
 alt_id: HP:0000007;   HP:0001416;   HP:0001526;   HP:0031362
 xref: SNOMEDCT_US:258211005;   UMLS:C0441748;   UMLS:C4020899


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  experimental factor 0
    material property 0
      disposition 0
        Mode of inheritance 0
          Autosomal recessive inheritance 0
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