inborn metal metabolism disorder developmental anomaly of metabolic origin inherited renal tubular disease genetic hypoparathyroidism rare renal tubular disease pseudohypoparathyroidism DOID:4184 GARD:0010758 ICD10:E20.1 ICD9:275.49 MESH:D011547 MONDO:0019992 MedDRA:10037126 NCIT:C99027 Orphanet:97593 Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). SCTID:58976002 UMLS:C0033806 https://rarediseases.info.nih.gov/diseases/10758/pseudohypoparathyroidism