############### [ Term ] id: HP:0000007 name: Autosomal recessive inheritance alt_id: HP:0001416 alt_id: HP:0001526 def: "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] synonym: "Autosomal recessive" EXACT [ ] synonym: "AUTOSOMAL RECESSIVE FORM" RELATED [ HPO:skoehler] synonym: "Autosomal recessive predisposition" RELATED [] is_a: HP:0000005 ! Mode of inheritance
[ Term ] id: HP:0000008 name: Abnormality of female internal genitalia def: "An abnormality of the female internal genitalia." [HPO:probinson] is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0010460 ! Abnormality of the female genitalia property_value: HP:0040005 "An abnormality of the `female internal genitalia` (FMA:45654)." xsd:string {xref="HPO:probinson"} ################## #### hash{HP:0000007}[0]="Mode of inheritance" hash{HP:0000008}[0]="Abnormal internal genitalia" hash{HP:0000008}[1]="Abnormality of the female genitalia"