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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: GARD:9699
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 severity ISO
ISS
DNA:deletion:intron:IVS20-11delT (human)
OMIM:602475
MouseDO PMID:15834329 RGD:13204732 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    Pathological Conditions, Signs and Symptoms 8834
      Pathologic Processes 6208
        Heterotopic Ossification 12
          Ossification of Posterior Longitudinal Ligament 2
            ossification of the posterior longitudinal ligament of spine 2
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      musculoskeletal system disease 5294
        connective tissue disease 3641
          bone disease 2998
            spinal disease 875
              Ossification of Posterior Longitudinal Ligament 2
                ossification of the posterior longitudinal ligament of spine 2
paths to the root