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tissue","onset_id":null,"reference":"ORPHA:2762","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/progressive-osseous-heteroplasia\">Progressive osseous heteroplasia</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Progressive osseous heteroplasia is caused by a mutation in the GNAS gene. The GNAS gene provides instructions for making one part of a protein complex called a guanine nucleotide-binding protein, or a G protein.</p><p>In a process called signal transduction, G proteins trigger a complex network of signaling pathways that ultimately influence many cell functions. The protein produced from the GNAS gene is believed to play a key role in signaling pathways that help regulate the development of bone (osteogenesis), preventing bony tissue from being produced outside the skeleton.</p><p>The GNAS gene mutations that cause progressive osseous heteroplasia disrupt the function of the G protein and impair its ability to regulate osteogenesis. As a result, bony tissue grows outside the skeleton and causes the complications associated with this disorder.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/progressive-osseous-heteroplasia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Progressive osseous heteroplasia?"},{"bodyHtml":"<p>Signs and symptoms of progressive osseous heteroplasia usually become noticeable during infancy. In some affected individuals, however, the disorder may not become evident until later in childhood or in early adulthood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/progressive-osseous-heteroplasia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"progressive-osseous-heteroplasia","sourceDocuments":[{"name":"Progressive osseous heteroplasia","reviewed":"2009-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:27.711349+00:00","label":"Causes","pageSha256":"e884169d8a3574f470c83b1976aaa332738524c7676bcf6ed88b07544d14ceae","sourceUrl":"https://medlineplus.gov/genetics/condition/progressive-osseous-heteroplasia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/progressive-osseous-heteroplasia"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Progressive osseous heteroplasia"},"schemaVersion":1}