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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:Myofibrillar Myopathy, ZASP-Related
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Accession:DOID:9005160 term browser browse the term
Synonyms:exact_synonym: MFM, Zasp-related
 primary_id: MESH:C563718
 alt_id: RDO:0012905


show annotations for term's descendants           Sort by:
Myofibrillar Myopathy, ZASP-Related term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy, ZASP-related ClinVar PMID:4855680 PMID:9536098 PMID:11696561 PMID:14660611 PMID:14662268 More... NCBI chr16:9,855,768...9,920,108
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        muscular disease 2148
          muscle tissue disease 1294
            myopathy 1008
              muscular dystrophy 599
                Myofibrillar Myopathy, ZASP-Related 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        peripheral nervous system disease 4122
          neuropathy 3906
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    muscular dystrophy 599
                      Myofibrillar Myopathy, ZASP-Related 1
paths to the root