Combined Phenotype Ontology

Last uploaded: November 18, 2021
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

http://purl.obolibrary.org/obo/HP_0034345

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