Source:http://linkedlifedata.com/resource/phenotype/id/HP:0000007
Predicate | Object |
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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 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]
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skos:inScheme | |
skos:prefLabel |
Autosomal recessive inheritance
|
skos:altLabel |
Autosomal recessive
|
skos:broader | |
skos:relatedSynonym |
Autosomal recessive predisposition
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