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)
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.