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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 7
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Accession:DOID:0080098 term browser browse the term
Definition:A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22. (DO)
Synonyms:exact_synonym: MFM7
 primary_id: OMIM:617114


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myofibrillar myopathy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep63 centrosomal protein 63 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 7 ClinVar PMID:25741868 PMID:27484770 PMID:27485408 PMID:30591934 NCBI chr 9:102,461,784...102,503,748
Ensembl chr 9:102,461,787...102,503,733 		JBrowse link
G Ky kyphoscoliosis peptidase ISO ClinVar Annotator: match by term: Myofibrillar myopathy 7 OMIM
ClinVar		 PMID:25741868 PMID:27484770 PMID:27485408 PMID:30591934 NCBI chr 9:102,382,954...102,423,443
Ensembl chr 9:102,382,949...102,423,438 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18297
    Developmental Disease 17907
      congenital structural myopathy 134
        myofibrillar myopathy 64
          myofibrillar myopathy 7 2
Path 2
Term Annotations click to browse term
  disease 18297
    disease of anatomical entity 15629
      nervous system disease 13500
        peripheral nervous system disease 4118
          neuropathy 3918
            neuromuscular disease 3081
              muscular disease 2172
                muscle tissue disease 1318
                  myopathy 1034
                    congenital myopathy 242
                      congenital structural myopathy 134
                        myofibrillar myopathy 64
                          myofibrillar myopathy 7 2
paths to the root