| umls-concept:C0033806 | skos:definition | MSH: A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.,CSP: hereditary condition clinically resembling hypoparathyroidism, but caused by failure of response to rather than deficiency of parathyroid hormones; characterized by hypocalcemia and hyperphosphatemia, and commonly associated with short stature, obesity, short metacarpals, and ectopic calcification.,JABL: Originally reported as a hypocalcemic syndrome similar to hypoparathyroidism, but with renal and skeletal resistance to parathyroid hormone (PTH) and designated as "pseudohypoparathyroidism." Albright later defined a normocalcemic variant which he termed "pseudopseudohypoparathyroidism." T | lld:umls |
