| Metadata | |
|---|---|
| ID | DOID:13374 |
| Name | fibrodysplasia ossificans progressiva |
| 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. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/, http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva, http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva, https://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia-ossificans-progressiva |
| Xrefs |
SNOMEDCT_US_2023_03_01:82725007 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
myositis ossificans progressiva [EXACT] progressive myositis ossificans [EXACT] progressive ossifying myositis [EXACT] Stone Man Syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |