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Preferred Name

fibrodysplasia ossificans progressiva
Synonyms

Stone Man Syndrome
Definitions

OMIM mapping confirmed by DO. [SN]. 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.
ID

http://purl.obolibrary.org/obo/DOID_13374
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

OMIM:135100

SNOMEDCT_US_2023_03_01:82725007

ICD9CM:728.11

ICD10CM:M61.1

UMLS_CUI:C0016037

MESH:D009221

GARD:6445

NCI:C3040

ORDO:337
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.
has exact synonym

Stone Man Syndrome

progressive ossifying myositis

myositis ossificans progressiva

progressive myositis ossificans
has material basis in

http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace

disease_ontology
id

DOID:13374
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim
label

fibrodysplasia ossificans progressiva
notation

DOID:13374
prefLabel

fibrodysplasia ossificans progressiva
subClassOf

http://purl.obolibrary.org/obo/DOID_65

http://purl.obolibrary.org/obo/DOID_0050736
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_13374 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_13374 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_13374 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_13374 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_13374 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_13374 FNS-H 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/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 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