D011547Level 5
Pseudohypoparathyroidism
**Definition:** 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.
**Tree numbers:** - C05.116.198.709 - C16.320.565.618.815 - C18.452.104.709 - C18.452.174.766 - C18.452.648.618.815
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