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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 16091
    physical disorder 2462
      congenital structural myopathy 150
        nemaline myopathy 59
          nemaline myopathy 7 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    congenital structural myopathy 150
                      nemaline myopathy 59
                        nemaline myopathy 7 1
paths to the root