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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:congenital myopathy 21
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Accession:DOID:0081353 term browser browse the term
Definition:A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. (DO)
Synonyms:exact_synonym: CMYP21;   Congenital Myopathy 21 with Early Respiratory Failure
 primary_id: OMIM:620326
 alt_id: DOID:9001370


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congenital myopathy 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 ISO ClinVar Annotator: match by term: Congenital myopathy 21 with early respiratory failure OMIM
ClinVar		 PMID:36264506 PMID:36344539 NCBI chr 1:77,198,130...77,237,014
Ensembl chr 1:79,305,605...79,318,199 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15686
    disease of anatomical entity 15297
      respiratory system disease 3356
        Respiration Disorders 451
          respiratory failure 362
            congenital myopathy 21 1
Path 2
Term Annotations click to browse term
  disease 15686
    disease of anatomical entity 15297
      nervous system disease 13323
        peripheral nervous system disease 4053
          neuropathy 3860
            neuromuscular disease 3033
              muscular disease 2124
                muscle tissue disease 1279
                  myopathy 990
                    congenital myopathy 239
                      congenital myopathy 21 1
paths to the root