Preferred Name |
Fibrodysplasia Ossificans Progressiva |
|
Synonyms |
Myositis Ossificans Progressiva Fibrodysplasia Ossificans Progressiva |
|
Definitions |
A condition in which there is progressive heterotopic bone formation of the tendons and muscles. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3040 |
|
ALT_DEFINITION |
An autosomal recessive disorder of connective tissue caused by mutation(s) in the ACVR1 gene, encoding activin receptor type-1. This condition is characterized by congenital malformations of the great toes and progressive ossification of skeletal muscle, fascia, tendons, and ligaments. |
|
code |
C3040 |
|
Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118467 |
|
Contributing_Source |
Cellosaurus NICHD |
|
DEFINITION |
A condition in which there is progressive heterotopic bone formation of the tendons and muscles. |
|
FULL_SYN |
Myositis Ossificans Progressiva Fibrodysplasia Ossificans Progressiva |
|
label |
Fibrodysplasia Ossificans Progressiva |
|
Legacy Concept Name |
Fibrodysplasia_Ossificans_Progressiva |
|
Preferred_Name |
Fibrodysplasia Ossificans Progressiva |
|
prefixIRI |
Thesaurus:C3040 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0016037 |
|
subClassOf |