Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Synonyms

FOP
ID

http://purl.bioontology.org/ontology/OMIM/135100
altLabel

FOP
cui

C0016037
Gene Locus

2q23-q24
Gene Symbol

ACVR1

ALK2

FOP

ACVRLK2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036686

http://purl.bioontology.org/ontology/OMIM/MTHU018167

http://purl.bioontology.org/ontology/OMIM/MTHU030868

http://purl.bioontology.org/ontology/OMIM/MTHU001954

http://purl.bioontology.org/ontology/OMIM/MTHU018178

http://purl.bioontology.org/ontology/OMIM/MTHU018175

http://purl.bioontology.org/ontology/OMIM/MTHU001104

http://purl.bioontology.org/ontology/OMIM/MTHU000848

http://purl.bioontology.org/ontology/OMIM/MTHU030869

http://purl.bioontology.org/ontology/OMIM/MTHU000138

http://purl.bioontology.org/ontology/OMIM/MTHU058222

http://purl.bioontology.org/ontology/OMIM/MTHU000317

http://purl.bioontology.org/ontology/OMIM/MTHU067158

http://purl.bioontology.org/ontology/OMIM/MTHU030871

http://purl.bioontology.org/ontology/OMIM/MTHU005090

http://purl.bioontology.org/ontology/OMIM/MTHU018179

http://purl.bioontology.org/ontology/OMIM/MTHU058225

http://purl.bioontology.org/ontology/OMIM/MTHU018169

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU041277

http://purl.bioontology.org/ontology/OMIM/MTHU058221

http://purl.bioontology.org/ontology/OMIM/MTHU058223

http://purl.bioontology.org/ontology/OMIM/MTHU018168

http://purl.bioontology.org/ontology/OMIM/MTHU015356

http://purl.bioontology.org/ontology/OMIM/MTHU030872

http://purl.bioontology.org/ontology/OMIM/MTHU036382

http://purl.bioontology.org/ontology/OMIM/MTHU018174

http://purl.bioontology.org/ontology/OMIM/MTHU036345

http://purl.bioontology.org/ontology/OMIM/MTHU018170

http://purl.bioontology.org/ontology/OMIM/MTHU058224

http://purl.bioontology.org/ontology/OMIM/MTHU011620

http://purl.bioontology.org/ontology/OMIM/MTHU058226

http://purl.bioontology.org/ontology/OMIM/MTHU058227

http://purl.bioontology.org/ontology/OMIM/MTHU018177

http://purl.bioontology.org/ontology/OMIM/MTHU018171

http://purl.bioontology.org/ontology/OMIM/MTHU001056

http://purl.bioontology.org/ontology/OMIM/MTHU067159

http://purl.bioontology.org/ontology/OMIM/MTHU067160

http://purl.bioontology.org/ontology/OMIM/MTHU018173

http://purl.bioontology.org/ontology/OMIM/MTHU018166
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

135100
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Scope Statement

Ossification evident 2-8 months following swelling [MISCELLANEOUS]

Trauma, IM injection, surgery can be foci of ectopic ossification [MISCELLANEOUS]

Caused by mutation in the activin A receptor, type I gene (ACVR1, 102576.0001) [MOLECULAR BASIS]

Mean age of onset, 5 years [MISCELLANEOUS]

De novo mutation (in most patients) [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10068715 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10036809 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D009221 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/D1-50220 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10068715 MDRFRE CUI
http://purl.bioontology.org/ontology/CSP/1982-9828 CRISP CUI
http://purl.bioontology.org/ontology/MEDDRA/10068715 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD9CM/728.11 ICD9CM CUI
http://purl.bioontology.org/ontology/RCD/N2311 RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/82725007 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10036809 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D009221 MESH CUI
http://purl.bioontology.org/ontology/ICD10CM/M61.1 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10CM/M61.10 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/82725007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10/M61.1 ICD10 CUI
http://purl.bioontology.org/ontology/MEDDRA/10036809 MEDDRA CUI
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/MONDO_0007606 EFO 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://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