Source:http://linkedlifedata.com/resource/phenotype/id/HP:0000007
Subject | Predicate | Object | Context |
---|---|---|---|
phenotype:HP:0000007 | rdf:type | skos:Concept | lld:phenotype |
phenotype:HP:0000007 | 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] | lld:phenotype |
phenotype:HP:0000007 | skos:inScheme | lld:phenotype | lld:phenotype |
phenotype:HP:0000007 | skos:prefLabel | Autosomal recessive inheritance | lld:phenotype |
phenotype:HP:0000007 | skos:altLabel | Autosomal recessive | lld:phenotype |
phenotype:HP:0000007 | skos:broader | phenotype:HP:0000005 | lld:phenotype |
phenotype:HP:0000007 | skos:relatedSynonym | Autosomal recessive predisposition | lld:phenotype |