OBO ID: DOID:0111535
Term Name: progressive osseous heteroplasia Search Ontology:
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 )
Relationships
is a type of:
OTHER progressive osseous heteroplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GNAS Osseous heteroplasia, progressive 166350
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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