Phenotypes associated with the disease normophosphatemic familial tumoral calcinosis (OMIM:610455):
- Gingivitis (HP:0000230): Inflammation of the gingiva. Evidence: PCS. (PMID:16960814)
- Abnormal circulating vitamin D concentration (HP:0100511): Concentration of vitamin D or a vitamin D metabolite in the blood circulation outside of normal limits. Evidence: PCS. Frequency: 0/8. (PMID:16960814)
- Decreased circulating parathyroid hormone level (HP:0031817): An abnormally decreased concentration of parathyroid hormone. Evidence: PCS. Frequency: 0/8. (PMID:16960814)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: PCS. (PMID:16960814)
- Calcinosis cutis (HP:0025520): Deposition of calcium in the skin. Evidence: PCS. Frequency: 8/8. (PMID:16960814)
- Abnormal circulating calcium concentration (HP:0004363): Any deviation from the normal concentration of calcium in the blood circulation. Evidence: PCS. Frequency: 0/8. (PMID:16960814)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 8/8. (PMID:16960814)
- 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: PCS. (PMID:16960814)
- Abnormal circulating phosphate ion concentration (HP:0100529): Any deviation from the normal concentration of phosphate ion in the blood circulation. Evidence: PCS. Frequency: 0/8. (PMID:16960814)