FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term progressive osseous heteroplasia ID (Ontology) DOID:0111535 (Human Disease)
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.
Also Known As "ectopic ossification familial type" ; "familial ectopic ossification" ; "osteoma cutis" (for all, see Synonyms field below)
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 Genes
 progressive osseous heteroplasia       2
 for disease ribbon | progressive osseous heteroplasia       2
 model of | progressive osseous heteroplasia       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                progressive osseous heteroplasia  2 rec.
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Is a autosomal dominant disease
syndrome
Part of
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Synonyms
  • "ectopic ossification familial type" EXACT
    "familial ectopic ossification" EXACT
    "osteoma cutis" EXACT
    "POH" EXACT OMO:0003012
Secondary IDs
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GARD:109
MEDDRA:10048902
MESH:C562735
MIM:166350
NCI:C132062
ORDO:2762
SNOMEDCT_US_2023_03_01:404074003
UMLS_CUI:C0334041