Experimental Factor Ontology

Last uploaded: June 18, 2024

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Preferred Name	fibrodysplasia ossificans progressiva
Synonyms	fibrodysplasia ossificans progressiva progressive myositis ossificans Stone man syndrome progressive ossifying myositis Stone Man syndrome fop 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	http://identifiers.org/meddra/10068715
database_cross_reference	OMIM:135100 MedDRA:10068715 NANDO:1200871 MESH:D009221 ICD9:728.11 UMLS:C0016037 SCTID:82725007 Orphanet:337 icd11.foundation:2102976705 NANDO:2201020 DOID:13374 GARD:6445 NCIT:C3040 NORD:1143
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 https://omim.org/entry/135100 http://purl.obolibrary.org/obo/Orphanet_337 http://identifiers.org/snomedct/82725007 http://purl.obolibrary.org/obo/NCIT_C3040
has_exact_synonym	fibrodysplasia ossificans progressiva progressive myositis ossificans Stone man syndrome progressive ossifying myositis Stone Man syndrome fop
has_related_synonym	myositis ossificans progressiva
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/4948
id	MONDO:0007606
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease
label	fibrodysplasia ossificans progressiva
notation	MONDO:0007606
prefLabel	fibrodysplasia ossificans progressiva
subClassOf	http://www.ebi.ac.uk/efo/EFO_0000508 http://purl.obolibrary.org/obo/MONDO_0019296 http://www.ebi.ac.uk/efo/EFO_0002461
excluded_subClassOf	http://purl.obolibrary.org/obo/MONDO_0018231

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0007606	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0007606	DOVES	SAME_URI
http://purl.obolibrary.org/obo/DOID_13374	DOID	LOOM
http://nanbyodata.jp/ontology/NANDO_2201020	NANDO	LOOM
http://nanbyodata.jp/ontology/NANDO_1200871	NANDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007606	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_13374	CLO	LOOM
http://purl.obolibrary.org/obo/DOID_13374	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_13374	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_13374	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_13374	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_13374	FNS-H	LOOM
http://id.nlm.nih.gov/mesh/D009221	MDM	LOOM
http://www.gamuts.net/entity#fibrodysplasia_ossificans_progressiva	GAMUTS	LOOM
http://www.orpha.net/ORDO/Orphanet_337	ORDO	LOOM
http://purl.obolibrary.org/obo/OMIM_135100	CCO	LOOM
http://identifiers.org/omim/135100	REXO	LOOM
http://identifiers.org/omim/135100	GEXO	LOOM
http://identifiers.org/omim/135100	RETO	LOOM
http://purl.bioontology.org/ontology/OMIM/135100	OMIM	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Fibrodysplasia_Ossificans_Progressiva	CSEO	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14705	DERMLEX	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10068715	MEDDRA	LOOM
http://purl.org/skeletome/bonedysplasia#Fibrodysplasia_ossificans_progressiva	BDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3040	NCIT	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_13374	NATPRO	LOOM
http://purl.obolibrary.org/obo/NCIT_C3040	BERO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_205	HRDO	LOOM
http://purl.obolibrary.org/obo/DERMO_0000669	DERMO	LOOM
http://purl.obolibrary.org/obo/MONDO_0007606	DOVES	LOOM