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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
 broad_synonym: ZBTB20-related condition
 xref: MESH:C536420;   MIM:259050;   MONDO:0009798


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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 | ClinVar Annotator: match by term: ZBTB20-related condition 		CTD
OMIM
ClinVar		 PMID:6809950 PMID:21567911 PMID:21910247 PMID:25017102 PMID:25741868 More... NCBI chr11:70,558,010...71,297,039
Ensembl chr11:70,580,930...70,736,237 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    syndrome 11394
      Primrose Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19154
    disease of anatomical entity 18461
      nervous system disease 14368
        peripheral nervous system disease 4403
          neuropathy 4188
            neuromuscular disease 3230
              muscular disease 2239
                muscle tissue disease 1358
                  myopathy 1054
                    muscular atrophy 86
                      Primrose Syndrome 1
paths to the root