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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:Primrose Syndrome
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Accession:DOID:9001681 term browser browse the term
Synonyms:exact_synonym: PRIMS;   ossified ear cartilages with mental deficiency, muscle wasting, and bony changes
 primary_id: MESH:C536420
 alt_id: OMIM:259050;   RDO:0002011
For additional species annotation, visit the Alliance of Genome Resources.


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Primrose Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zbtb20 zinc finger and BTB domain containing 20 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primrose syndrome
CTD
ClinVar
OMIM
PMID:21567911, PMID:21910247, PMID:25017102, PMID:25741868, PMID:28492532, PMID:30256248 NCBI chr11:62,014,925...62,561,113
Ensembl chr11:62,014,925...62,451,184
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Primrose Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    muscular atrophy 84
                      Primrose Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.