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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

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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 term: Nemaline myopathy 9 OMIM
ClinVar		 PMID:16199547 PMID:24268659 PMID:25558065 PMID:25741868 PMID:28492532 NCBI chrNW_004955449:5,023,362...5,041,006
Ensembl chrNW_004955449:5,023,362...5,061,705 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9437
            autosomal genetic disease 8755
              autosomal recessive disease 6139
                nemaline myopathy 9 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3824
          neuropathy 3643
            neuromuscular disease 2847
              muscular disease 2000
                muscle tissue disease 1199
                  myopathy 929
                    congenital myopathy 232
                      nemaline myopathy 65
                        nemaline myopathy 9 1
paths to the root