Visualize Submit Comment
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://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva, http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/, http://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia_ossificans_progressiva/
Xrefs

GARD:6445

ICD10CM:M61.1

ICD9CM:728.11

MESH:D009221

NCI:C3040

OMIM:135100

ORDO:337

SNOMEDCT_US_2020_09_01:82725007

UMLS_CUI:C0016037

Subsets

DO_FlyBase_slim

NCIthesaurus

Synonyms

myositis ossificans progressiva [EXACT]

progressive myositis ossificans [EXACT]

progressive ossifying myositis [EXACT]

Stone Man Syndrome [EXACT]

Parent Relationships

is_a connective tissue disease

is_a autosomal dominant disease

Add an item to the term tracker