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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease albright hereditary osteodystrophy
Comorbidity C0033806|pseudohypoparathyroidism
Sentences 2
PubMedID- 25802881 Maternally inherited inactivating gnas mutations are the most common cause of parathyroid hormone (pth) resistance and albright hereditary osteodystrophy (aho) leading to pseudohypoparathyroidism type ia (phpia) due to gsalpha deficiency.
PubMedID- 20738794 albright hereditary osteodystrophy with pseudohypoparathyroidism is due to maternal loss-of-function mutations in the gnas gene.

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