Source:http://linkedlifedata.com/resource/phenotype/id/HP:0000006
Subject | Predicate | Object | Context |
---|---|---|---|
phenotype:HP:0000006 | rdf:type | skos:Concept | lld:phenotype |
phenotype:HP:0000006 | skos: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:0000006 | skos:inScheme | lld:phenotype | lld:phenotype |
phenotype:HP:0000006 | skos:prefLabel | Autosomal dominant inheritance | lld:phenotype |
phenotype:HP:0000006 | skos:altLabel | Autosomal dominant | lld:phenotype |
phenotype:HP:0000006 | skos:notation | UMLS:C0443147 "Autosomal dominant" | lld:phenotype |
phenotype:HP:0000006 | skos:broader | phenotype:HP:0000005 | lld:phenotype |
phenotype:HP:0001444 | skos:broader | phenotype:HP:0000006 | lld:phenotype |
phenotype:HP:0001452 | skos:broader | phenotype:HP:0000006 | lld:phenotype |
phenotype:HP:0001470 | skos:broader | phenotype:HP:0000006 | lld:phenotype |