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DO Term : progressive osseous heteroplasia [DOID:0111535] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • GARD:109,
  • familial ectopic ossification,
  • ORDO:2762,
  • UMLS_CUI:C0334041,
  • OMIM:166350,
  • MEDDRA:10048902,
  • MESH:C562735,
  • SNOMEDCT_US_2023_03_01:404074003,
  • NCI:C132062,
  • ectopic ossification familial type,
  • osteoma cutis,
  • 166350,
  • POH
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Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents