Terminology Service for NFDI4Health

Autosomal recessive inheritance

Go to external page http://purl.obolibrary.org/obo/HP_0000007


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). [ ]

Term info

Label

Autosomal recessive inheritance

Synonyms
  • Autosomal recessive
database cross reference
has alternative id

HP:0001416, HP:0001526

has obo namespace

human_phenotype

has related synonym

Autosomal recessive predisposition, Autosomal recessive form

id

HP:0000007

Term relations

Subclass of: