
thumb | right | alt=Xray showing short metacarpals as may be seen in pseudohypoparathyroidism type 1a and 1c | Short metatarsals as may be seen in pseudohypoparathyroidism type 1a and 1c Pseudohypoparathyroidism is a rare autosomal dominant genetic condition associated primarily with resistance to the parathyroid hormone. Those with the condition have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is inappropriately high (due to the low level of calcium in the blood). Its pathogenesis has been linked to dysfunctional G proteins (in particular, Gs alpha subunit)
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thumb | right | alt=Xray showing short metacarpals as may be seen in pseudohypoparathyroidism type 1a and 1c | Short metatarsals as may be seen in pseudohypoparathyroidism type 1a and 1c Pseudohypoparathyroidism is a rare autosomal dominant genetic condition associated primarily with resistance to the parathyroid hormone. Those with the condition have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is inappropriately high (due to the low level of calcium in the blood). Its pathogenesis has been linked to dysfunctional G proteins (in particular, Gs alpha subunit). Pseudohypoparathyroidism is a very rare disorder, with estimated prevalence between 0.3 and 1.1 cases per 100,000 population depending on geographic location.
==Types==
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).