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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;   RDO:0004318
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 synonym: Myopathy, actin, congenital, with cores
ClinVar Annotator: match by term: Nemaline myopathy 3, autosomal dominant or recessive
ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the alpha-actin gene
OMIM
ClinVar
PMID:15520409, PMID:18414213, PMID:19562689, PMID:24642510, PMID:25741868, PMID:26172852, PMID:28492532, PMID:30311386 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      congenital structural myopathy 139
        nemaline myopathy 58
          nemaline myopathy 3 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    congenital structural myopathy 139
                      nemaline myopathy 58
                        nemaline myopathy 3 1
paths to the root

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