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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 9
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Accession:DOID:0110929 term browser browse the term
Definition:A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: NEM9
 primary_id: OMIM:615731
 alt_id: RDO:9001042
For additional species annotation, visit the Alliance of Genome Resources.


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nemaline myopathy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl41 kelch-like family member 41 ISO ClinVar Annotator: match by OMIM:615731
ClinVar Annotator: match by term: Nemaline myopathy 9
OMIM
ClinVar
PMID:24268659, PMID:25558065, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:55,910,177...55,923,303
Ensembl chr 3:55,910,177...55,923,303
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      congenital structural myopathy 140
        nemaline myopathy 58
          nemaline myopathy 9 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                muscle tissue disease 811
                  myopathy 668
                    congenital structural myopathy 140
                      nemaline myopathy 58
                        nemaline myopathy 9 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.