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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 PMID:19047562 PMID:22084935 PMID:23689010 PMID:23886664 PMID:24033266 PMID:24039757 PMID:24657080 PMID:24692096 PMID:25741868 PMID:25978979 PMID:27854218 PMID:28492532 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
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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 4 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 4 1
paths to the root