Autosomal dominant inheritance

Source:http://linkedlifedata.com/resource/phenotype/id/HP:0000006

Statements in which the resource exists.
SubjectPredicateObjectContext
phenotype:HP:0000006rdf:typeskos:Conceptlld:phenotype
phenotype:HP:0000006skos: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." [HPO:curators]lld:phenotype
phenotype:HP:0000006skos:inSchemelld:phenotypelld:phenotype
phenotype:HP:0000006skos:prefLabelAutosomal dominant inheritancelld:phenotype
phenotype:HP:0000006skos:altLabelAutosomal dominantlld:phenotype
phenotype:HP:0000006skos:notationUMLS:C0443147 "Autosomal dominant"lld:phenotype
phenotype:HP:0000006skos:broaderphenotype:HP:0000005lld:phenotype
phenotype:HP:0001444skos:broaderphenotype:HP:0000006lld:phenotype
phenotype:HP:0001452skos:broaderphenotype:HP:0000006lld:phenotype
phenotype:HP:0001470skos:broaderphenotype:HP:0000006lld:phenotype