Preferred Name |
Autosomal recessive inheritance |
|
Synonyms |
biallelic_autosomal Autosomal recessive Autosomal recessive predisposition Autosomal recessive form |
|
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
|
ID |
http://purl.obolibrary.org/obo/HP_0000007 |
|
database_cross_reference |
UMLS:C4020899 SNOMEDCT_US:258211005 UMLS:C0441748 |
|
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
|
has exact synonym |
biallelic_autosomal Autosomal recessive |
|
has related synonym |
Autosomal recessive predisposition Autosomal recessive form |
|
has_alternative_id |
HP:0001416 HP:0001526 HP:0031362 |
|
id |
HP:0000007 |
|
label |
Autosomal recessive inheritance |
|
notation |
HP:0000007 |
|
prefLabel |
Autosomal recessive inheritance |
|
subClassOf |