Preferred Name |
fibrodysplasia ossificans progressiva |
|
Synonyms |
fop fibrodysplasia ossificans progressiva progressive ossifying myositis Stone Man syndrome progressive myositis ossificans Stone man syndrome myositis ossificans progressiva |
|
Definitions |
Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. |
|
ID |
http://purl.obolibrary.org/obo/MONDO_0007606 |
|
closeMatch | ||
database_cross_reference |
icd11.foundation:2102976705 ICD9:728.11 Orphanet:337 NORD:1143 GARD:6445 UMLS:C0016037 NCIT:C3040 SCTID:82725007 OMIM:135100 MESH:D009221 DOID:13374 MedDRA:10068715 |
|
definition |
Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. |
|
exactMatch |
http://purl.obolibrary.org/obo/DOID_13374 http://linkedlifedata.com/resource/umls/id/C0016037 http://purl.obolibrary.org/obo/Orphanet_337 |
|
has_exact_synonym |
fop fibrodysplasia ossificans progressiva progressive ossifying myositis Stone Man syndrome progressive myositis ossificans Stone man syndrome |
|
has_related_synonym |
myositis ossificans progressiva |
|
IAO_0000233 | ||
id |
MONDO:0007606 |
|
in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
label |
fibrodysplasia ossificans progressiva |
|
notation |
MONDO:0007606 |
|
prefLabel |
fibrodysplasia ossificans progressiva |
|
excluded_subClassOf | ||
subClassOf |
http://www.ebi.ac.uk/efo/EFO_0000508 |