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[ 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"}
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hash{HP:0000007}[0]="Mode of inheritance"
hash{HP:0000008}[0]="Abnormal internal genitalia"
hash{HP:0000008}[1]="Abnormality of the female genitalia"