Gene Expression Ontology

Last uploaded: December 16, 2015
Preferred Name

Fibrodysplasia ossificans progressiva

Synonyms

FOP

Definitions

(FOP) - A rare autosomal dominant connective tissue disorder resulting in skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to a debilitating ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible.

ID

http://identifiers.org/omim/135100

altLabel

FOP

definition

(FOP) - A rare autosomal dominant connective tissue disorder resulting in skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to a debilitating ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible.

id

OMIM:135100

notation

OMIM:135100

prefLabel

Fibrodysplasia ossificans progressiva

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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http://identifiers.org/omim/135100 REXO SAME_URI
http://identifiers.org/omim/135100 RETO SAME_URI
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 DOID 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 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://nanbyodata.jp/ontology/NANDO_2201020 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200871 NANDO 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