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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 7
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Accession:DOID:0110934 term browser browse the term
Definition:A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. (DO)
Synonyms:exact_synonym: NEM7;   nemaline myopathy 7, autosomal recessive
 primary_id: MESH:C565198
 alt_id: OMIM:610687
For additional species annotation, visit the Alliance of Genome Resources.


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nemaline myopathy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by OMIM:610687
ClinVar Annotator: match by term: Nemaline myopathy 7
OMIM
ClinVar
PMID:17160903, PMID:18414213, PMID:22560515, PMID:25741868, PMID:28492532 NCBI chr 6:75,759,140...75,763,185
Ensembl chr 6:75,759,140...75,763,185
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      congenital structural myopathy 150
        nemaline myopathy 59
          nemaline myopathy 7 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                muscle tissue disease 830
                  myopathy 686
                    congenital structural myopathy 150
                      nemaline myopathy 59
                        nemaline myopathy 7 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.