Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Fibrodysplasia Ossificans Progressiva
Synonyms
Definitions

A condition in which there is progressive heterotopic bone formation of the tendons and muscles.
ID

http://purl.obolibrary.org/obo/NCIT_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
Contributing_Source

Cellosaurus

NICHD
definition

A condition in which there is progressive heterotopic bone formation of the tendons and muscles.
in_subset

http://purl.obolibrary.org/obo/NCIT_C90259

http://purl.obolibrary.org/obo/NCIT_C118467

http://purl.obolibrary.org/obo/NCIT_C165258
label

Fibrodysplasia Ossificans Progressiva
Legacy Concept Name

Fibrodysplasia_Ossificans_Progressiva
Preferred_Name

Fibrodysplasia Ossificans Progressiva
prefixIRI

NCIT:C3040
prefLabel

Fibrodysplasia Ossificans Progressiva
Semantic_Type

Disease or Syndrome
UMLS_CUI

C0016037
subClassOf

http://purl.obolibrary.org/obo/NCIT_C3101

http://purl.obolibrary.org/obo/NCIT_C53543
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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://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://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