Phenotypes associated with the disease hypogonadotropic hypogonadism 13 with or without anosmia (OMIM:614842, an entry in Online Mendelian Inheritance in Man):
- Hypogonadotropic hypogonadism (HP:0000044, a Human Phenotype Ontology term): Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). Evidence: PCS. (PMID:22335740)
- 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. Frequency: 4/4. (PMID:22335740)
- Hypoplasia of the uterus (HP:0000013, a Human Phenotype Ontology term): Underdevelopment of the uterus. Evidence: PCS. (PMID:22335740)
- Delayed skeletal maturation (HP:0002750, a Human Phenotype Ontology term): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: PCS. (PMID:22335740)
- Decreased circulating luteinizing hormone level (HP:0030344, a Human Phenotype Ontology term): A reduction in the circulating level of luteinizing hormone (LH). Evidence: PCS. Frequency: 4/4. (PMID:22335740)
- Decreased circulating follicle stimulating hormone concentration (HP:0030341, a Human Phenotype Ontology term): A reduction of the circulating level of follicle-stimulating hormone (FSH). Evidence: PCS. Frequency: 4/4. (PMID:22335740)
- 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:22335740)
- Anosmia (HP:0000458, a Human Phenotype Ontology term): An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. Evidence: PCS. Frequency: 0/4. (PMID:22335740)
- Decreased serum estradiol (HP:0008214, a Human Phenotype Ontology term): A reduction below normal concentration of estradiol in the circulation. Evidence: PCS. Frequency: 4/4. (PMID:22335740)