Details of Disease
General Information of Disease (ID: DISSAFPH)
| Disease Name | Disorder of GNAS inactivation | ||||
|---|---|---|---|---|---|
| Definition |
Any endocrine system disorder in which the cause of the disease is inactivation of the GNAS gene. Phenotypes include pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC).
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