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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 11
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Accession:DOID:0110933 term browser browse the term
Definition:An autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade, followed by gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. (OMIM)
Synonyms:exact_synonym: NEM11;   nemaline myopathy 11, autosomal recessive
 primary_id: OMIM:617336
 alt_id: RDO:9001717
For additional species annotation, visit the Alliance of Genome Resources.

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nemaline myopathy 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mypn myopalladin ISO ClinVar Annotator: match by term: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive		 ClinVar
OMIM		 PMID:25741868 PMID:28017374 PMID:28492532 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      congenital structural myopathy 150
        nemaline myopathy 59
          nemaline myopathy 11 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              muscular disease 1168
                muscle tissue disease 790
                  myopathy 643
                    congenital structural myopathy 150
                      nemaline myopathy 59
                        nemaline myopathy 11 1
paths to the root