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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 4
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Accession:DOID:0110932 term browser browse the term
Definition:A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. (DO)
Synonyms:exact_synonym: Cap Myopathy, Tpm2-Related;   NEM4;   nemaline myopathy 4, autosomal dominant;   nemaline myopathy caused by mutation in the tropomyosin 2 gene
 narrow_synonym: CAP MYOPATHY 2;   CAPM2
 primary_id: MESH:C538351
 alt_id: OMIM:609285;   RDO:0004319
 xref: NCI:C164225
For additional species annotation, visit the Alliance of Genome Resources.



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nemaline myopathy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by OMIM:609285
ClinVar Annotator: match by synonym: Cap myopathy 2
ClinVar Annotator: match by term: Nemaline myopathy 4
OMIM
ClinVar
PMID:11738357 PMID:17846275 PMID:18414213 PMID:18420702 PMID:18422639 More... NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    physical disorder 3130
      congenital structural myopathy 158
        nemaline myopathy 64
          nemaline myopathy 4 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        peripheral nervous system disease 2581
          neuropathy 2374
            neuromuscular disease 1889
              muscular disease 1289
                muscle tissue disease 833
                  myopathy 668
                    congenital structural myopathy 158
                      nemaline myopathy 64
                        nemaline myopathy 4 1
paths to the root