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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 8
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Accession:DOID:0080308 term browser browse the term
Definition:A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12. (DO)
Synonyms:exact_synonym: MFM8
 primary_id: OMIM:617258
For additional species annotation, visit the Alliance of Genome Resources.


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myofibrillar myopathy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pyroxd1 pyridine nucleotide-disulphide oxidoreductase domain 1 ISO ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 8
ClinVar Annotator: match by term: Myopathy, myofibrillar, 8
ClinVar
OMIM
PMID:25741868 PMID:27745833 PMID:30345904 PMID:32037607 NCBI chr 4:176,565,733...176,581,976
Ensembl chr 4:176,565,694...176,581,952
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    physical disorder 2480
      congenital structural myopathy 150
        myofibrillar myopathy 56
          myofibrillar myopathy 8 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              muscular disease 1168
                muscle tissue disease 790
                  myopathy 643
                    congenital structural myopathy 150
                      myofibrillar myopathy 56
                        myofibrillar myopathy 8 1
paths to the root