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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:An autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness primary affecting the lower limbs and associated with joint contractures. (OMIM)
Synonyms:exact_synonym: MFM7
 primary_id: OMIM:617114
For additional species annotation, visit the Alliance of Genome Resources.



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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 8:103,086,630...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 18032
    Developmental Disease 12742
      congenital structural myopathy 170
        myofibrillar myopathy 63
          myofibrillar myopathy 7 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          neuropathy 2766
            neuromuscular disease 2185
              muscular disease 1417
                muscle tissue disease 934
                  myopathy 768
                    congenital structural myopathy 170
                      myofibrillar myopathy 63
                        myofibrillar myopathy 7 2
paths to the root