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An element with atomic symbol O, atomic number 8, and atomic weight 16. [from NCI]

MedGen UID:
Concept ID:
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance

Progressive osseous heteroplasia

Progressive osseous heteroplasia is a rare autosomal dominant disorder characterized by dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia (Kaplan et al., 1994). The molecular defect causing POH is the same as that causing PPHP: an inactivating GNAS mutation caused only by paternal inheritance of the mutant allele. However, patients with PPHP have a constellation of physical findings referred to as Albright hereditary osteodystrophy (AHO; see 103580) that is often not seen in patients with POH. Bastepe and Juppner (2005) suggested that POH may be an extreme end of the spectrum of the AHO features seen in PPHP. [from GTR]

MedGen UID:
Concept ID:
Neoplastic Process

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