Search Ontology:
Human Disease

progressive osseous heteroplasia

Term ID
DOID:0111535
Synonyms
  • ectopic ossification familial type
  • familial ectopic ossification
  • osteoma cutis
  • POH
(all 4)
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
  • MIM:166350
  • NCI:C132062
  • ORDO:2762
  • SNOMEDCT_US_2023_03_01:404074003
  • UMLS_CUI:C0334041
(all 8)
Ontology
Human Disease   ( DOID:0111535 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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