- Endometriosis (HP:0030127): The growth of endometrial tissue outside the uterus. Evidence: TAS. (OMIM:131200)
- Decreased fertility (HP:0000144). Evidence: IEA. (OMIM:131200)
- Autosomal recessive inheritance (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). Evidence: IEA. (OMIM:131200)
- Non-Mendelian inheritance (HP:0001426): A mode of inheritance that depends on genetic determinants in more than one gene. Evidence: IEA. (OMIM:131200)
- Dysmenorrhea (HP:0100607): Pain during menstruation that interferes with daily activities. Evidence: TAS. (OMIM:131200)
These phenotypes are associated with the disease endometriosis, susceptibility to, 1 (OMIM:131200).