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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
 xref: NCI:C164225


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cap myopathy 2 | ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the tropomyosin 2 gene | ClinVar Annotator: match by term: TPM2-related cap myopathy		 OMIM
CTD
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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                nemaline myopathy 4 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    congenital myopathy 239
                      nemaline myopathy 65
                        nemaline myopathy 4 1
paths to the root