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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 IAGP DNA:polymorphism:exon:6007C>T(rs17563)(human) RGD PMID:21034624 RGD:9068398 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 severity IAGP
ISS		 DNA:deletion:intron:IVS20-11delT (human)
OMIM:602475		 MouseDO
RGD		 PMID:15834329 RGD:13204732 NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Pathologic Processes 13181
        Heterotopic Ossification 38
          Ossification of Posterior Longitudinal Ligament 2
            ossification of the posterior longitudinal ligament of spine 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11642
        connective tissue disease 7446
          bone disease 5601
            spinal disease 1947
              Ossification of Posterior Longitudinal Ligament 2
                ossification of the posterior longitudinal ligament of spine 2
paths to the root