Phenotypes associated with the disease ovarian dysgenesis 1 (OMIM:233300, an entry in Online Mendelian Inheritance in Man):
- Osteoporosis (HP:0000939, a Human Phenotype Ontology term): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: IEA. (OMIM:233300)
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. (PMID:7553856)
- Gonadal dysgenesis (HP:0000133, a Human Phenotype Ontology term): Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen. Evidence: IEA. (OMIM:233300)
- Increased circulating gonadotropin level (HP:0000837, a Human Phenotype Ontology term): Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. Evidence: IEA. (OMIM:233300)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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: PCS. (PMID:7553856)
- Primary amenorrhea (HP:0000786, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:233300)