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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 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177 		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 8:103,086,959...103,126,305
Ensembl chr 8:103,086,630...103,126,024 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      congenital structural myopathy 132
        myofibrillar myopathy 63
          myofibrillar myopathy 7 2
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
                    congenital myopathy 239
                      congenital structural myopathy 132
                        myofibrillar myopathy 63
                          myofibrillar myopathy 7 2
paths to the root