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progressive osseous heteroplasia
Summary
- Synonym
-
- POH
- ectopic ossification familial type
- familial ectopic ossification
- osteoma cutis
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111535
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
