Disease association ontology term - MONDO:0011301 - pseudohypoparathyroidism type 1B
Term summary
- ID
- MONDO:0011301
- Name
- pseudohypoparathyroidism type 1B
- Ontology or CV name
- Disease association
- Definition
- Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.
