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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:nemaline myopathy 1
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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;   RDO:0004315
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    physical disorder 2459
      congenital structural myopathy 150
        nemaline myopathy 59
          nemaline myopathy 1 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        peripheral nervous system disease 2425
          neuropathy 2241
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 791
                  myopathy 643
                    congenital structural myopathy 150
                      nemaline myopathy 59
                        nemaline myopathy 1 1
paths to the root