Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:nemaline myopathy 1
go back to main search page
Accession:DOID:0110926 term browser browse the term
Definition:A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21. (DO)
Synonyms:exact_synonym: NEM1;   cap myopathy, TPM3-related;   nemaline myopathy 1, autosomal dominant or recessive;   nemaline myopathy caused by mutation in the tropomyosin 3 gene
 narrow_synonym: CAP myopathy 1;   CAPM1
 primary_id: MESH:C538348
 alt_id: OMIM:609284
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    physical disorder 4333
      congenital structural myopathy 170
        nemaline myopathy 64
          nemaline myopathy 1 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        peripheral nervous system disease 3065
          neuropathy 2847
            neuromuscular disease 2237
              muscular disease 1465
                muscle tissue disease 959
                  myopathy 787
                    congenital structural myopathy 170
                      nemaline myopathy 64
                        nemaline myopathy 1 1
paths to the root