fibrodysplasia ossificans progressiva

Summary
Synonym
  • Stone Man Syndrome
  • myositis ossificans progressiva
  • progressive myositis ossificans
  • progressive ossifying myositis
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.
Super Class
autosomal dominant disease connective tissue disease
Disease Ontology
DOID:13374
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
90 ACVR1 activin A receptor type 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
11477 Acvr1 activin A receptor, type 1
12159 Bmp4 bone morphogenetic protein 4
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 4, 2025