Term Name: | progressive osseous heteroplasia |
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Synonyms: | ectopic ossification familial type, familial ectopic ossification, osteoma cutis, POH |
Definition: | A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32. |
Ontology: | Human Disease [DOID:0111535] ( DOID:0111535 ) |