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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: KLHL41-RELATED CONDITION;   NEM9
 primary_id: MIM: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:25786579 More... NCBI chr 3:74,842,118...74,855,244 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                nemaline myopathy 9 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              muscular disease 2244
                muscle tissue disease 1363
                  myopathy 1058
                    congenital myopathy 252
                      nemaline myopathy 67
                        nemaline myopathy 9 1
paths to the root