Phenotypes associated with the disease hypoparathyroidism, familial isolated, 2 (OMIM:618883, an entry in Online Mendelian Inheritance in Man):
- Hypocalcemic seizures (HP:0002199, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 3/4. (PMID:11602629;PMID:15863676)
- Decreased circulating parathyroid hormone level (HP:0031817, a Human Phenotype Ontology term): An abnormally decreased concentration of parathyroid hormone. Evidence: PCS. Frequency: 4/4. (PMID:11602629;PMID:15863676)
- Hyperphosphatemia (HP:0002905, a Human Phenotype Ontology term): The concentration of phosphate ion in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/2. (PMID:15863676)
- 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:11602629)
- Hypocalcemia (HP:0002901, a Human Phenotype Ontology term): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 2/3. (PMID:15863676)