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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 3
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Accession:DOID:0110927 term browser browse the term
Definition:A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: NEM3;   NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS,;   Nemaline myopathy 3, autosomal dominant or recessive;   nemaline myopathy caused by mutation in the alpha-actin gene
 narrow_synonym: MYOPATHY, ACTIN, CONGENITAL, WITH CORES;   nemaline myopathy 3, with intranuclear rods
 primary_id: MESH:C538350
 alt_id: OMIM:161800
 xref: NCI:C129870
For additional species annotation, visit the Alliance of Genome Resources.



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nemaline myopathy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Myopathy, actin, congenital, with cores | ClinVar Annotator: match by term: Nemaline myopathy 3 | ClinVar Annotator: match by term: Nemaline myopathy 3, autosomal dominant or recessive OMIM
ClinVar
PMID:1351946 PMID:4952447 PMID:9401010 PMID:10508519 PMID:15226407 More... NCBI chr19:51,883,713...51,886,725
Ensembl chr19:51,883,715...51,886,742
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      congenital structural myopathy 170
        nemaline myopathy 64
          nemaline myopathy 3 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        peripheral nervous system disease 3018
          neuropathy 2804
            neuromuscular disease 2223
              muscular disease 1453
                muscle tissue disease 950
                  myopathy 779
                    congenital structural myopathy 170
                      nemaline myopathy 64
                        nemaline myopathy 3 1
paths to the root