loading...| Preferred Name |
Autosomal recessive inheritance |
| Definitions |
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). |
| ID |
http://purl.obolibrary.org/obo/HP_0000007 |
| 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). |
| has_alternative_id |
HP:0001416 HP:0001526 |
| has_obo_namespace |
human_phenotype |
| id |
HP:0000007 |
| label |
Autosomal recessive inheritance |
| notation |
HP:0000007 |
| prefLabel |
Autosomal recessive inheritance |
| subClassOf |