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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:ossification of the posterior longitudinal ligament of spine
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Accession:DOID:0060887 term browser browse the term
Definition:A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia. (DO)
Synonyms:exact_synonym: OPLL
 primary_id: MESH:C537143
 alt_id: OMIM:602475
 xref: EFO:0005895;   GARD:9699

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ossification of the posterior longitudinal ligament of spine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:polymorphism:exon:6007C>T(rs17563)(human) RGD PMID:21034624 RGD:9068398 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 severity ISO DNA:deletion:intron:IVS20-11delT (human)
OMIM:602475		 RGD
MouseDO		 PMID:15834329 RGD:13204732 NCBI chrNW_004937067:194,375...246,607 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Pathologic Processes 6997
        Heterotopic Ossification 18
          Ossification of Posterior Longitudinal Ligament 2
            ossification of the posterior longitudinal ligament of spine 2
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      musculoskeletal system disease 7378
        connective tissue disease 5008
          bone disease 3672
            spinal disease 1029
              Ossification of Posterior Longitudinal Ligament 2
                ossification of the posterior longitudinal ligament of spine 2
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