progressive osseous heteroplasia

Term ID

DOID:0111535

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. (3)

References

• GARD:109
• MEDDRA:10048902
• MESH:C562735
• NCI:C132062
• OMIM:166350
• ORDO:2762
• SNOMEDCT_US_2023_03_01:404074003
• UMLS_CUI:C0334041

Ontology

Human Disease   ( DOID:0111535 )