Source:http://linkedlifedata.com/resource/phenotype/id/HP:0000006
| Predicate | Object |
|---|---|
| rdf:type | |
| 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]
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| skos:inScheme | |
| skos:prefLabel |
Autosomal dominant inheritance
|
| skos:altLabel |
Autosomal dominant
|
| skos:notation |
UMLS:C0443147 "Autosomal dominant"
|
| skos:broader |