Phenotypes associated with the disease premature ovarian failure 6 (OMIM:612310):
- Premature ovarian insufficiency (HP:0008209): Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. Evidence: PCS. (PMID:18499083)
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: PCS. Frequency: 2/4. (PMID:18499083)
- Sex-limited expression (HP:0001470): Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex. Evidence: PCS. (PMID:18499083)
- Secondary amenorrhea (HP:0000869). Evidence: PCS. (PMID:18499083)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: PCS. (PMID:30474133)
- Female infertility (HP:0008222). Evidence: IEA. Frequency: 4/4. (PMID:18499083)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. (PMID:30474133)
- Streak ovary (HP:0010464): A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. Evidence: PCS. Frequency: 2/4. (PMID:18499083)
- Primary amenorrhea (HP:0000786). Evidence: PCS. (PMID:30474133)