OBO ID: DOID:13374
Term Name: fibrodysplasia ossificans progressiva Search Ontology:
Synonyms:
  • myositis ossificans progressiva
  • progressive myositis ossificans
  • progressive ossifying myositis
  • Stone Man Syndrome
Definition: A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. (4)
References:
  • GARD:6445
  • ICD10CM:M61.1
  • ICD9CM:728.11
  • MESH:D009221
  • NCI:C3040
  • OMIM:135100
  • ORDO:337
  • SNOMEDCT_US_2023_03_01:82725007
  • UMLS_CUI:C0016037
Ontology: Human Disease   ( DOID:13374 )
Relationships
is a type of:
OTHER fibrodysplasia ossificans progressiva PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ACVR1 Fibrodysplasia ossificans progressiva
PHENOTYPE No data available

CITATIONS (5)
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