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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


show annotations for term's descendants           Sort by:
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 IAGP
EXP		 ClinVar Annotator: match by term: Primrose syndrome
ClinVar Annotator: match by term: Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes | ClinVar Annotator: match by term: Primrose syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 PMID:28327206 More... NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292 		JBrowse link
G ZBTB20-AS1 ZBTB20 antisense RNA 1 IAGP ClinVar Annotator: match by term: Primrose syndrome ClinVar PMID:25741868 NCBI chr 3:114,351,811...114,388,978
Ensembl chr 3:114,351,771...114,388,978 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    syndrome 18145
      Primrose Syndrome 2
Path 2
Term Annotations click to browse term
  disease 35756
    disease of anatomical entity 32495
      nervous system disease 26376
        peripheral nervous system disease 5397
          neuropathy 5142
            neuromuscular disease 4050
              muscular disease 2812
                muscle tissue disease 1720
                  myopathy 1395
                    muscular atrophy 98
                      Primrose Syndrome 2
paths to the root