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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Autosomal dominant inheritance
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Accession:EFO:HP:0000006 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Synonyms:exact_synonym: Autosomal dominant;   monoallelic_autosomal
 related_synonym: Autosomal dominant form;   Autosomal dominant type
 alt_id: HP:0000006;   HP:0001415;   HP:0001447;   HP:0001448;   HP:0001451;   HP:0001452;   HP:0001455;   HP:0001456;   HP:0001463
 xref: SNOMEDCT_US:263681008;   UMLS:C0443147


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