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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 15
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Accession:DOID:0081347 term browser browse the term
Definition:A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding. (DO)
Synonyms:exact_synonym: CMYO15;   CMYP15;   MYONRI;   MYOPATHY, CONGENITAL, WITH NEONATAL RESPIRATORY INSUFFICIENCY
 alt_id: DOID:9006710
 xref: MIM:620161;   MONDO:0859335


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congenital myopathy 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnc2 troponin C2, fast ISO ClinVar Annotator: match by term: Congenital myopathy 15 OMIM
ClinVar		 PMID:33755597 NCBI chr 2:164,619,081...164,621,654
Ensembl chr 2:164,619,081...164,621,887 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16177
    disease of anatomical entity 15790
      respiratory system disease 3568
        Respiration Disorders 484
          respiratory failure 389
            neonatal respiratory failure 3
              congenital myopathy 15 1
Path 2
Term Annotations click to browse term
  disease 16177
    disease of anatomical entity 15790
      nervous system disease 13691
        peripheral nervous system disease 4266
          neuropathy 4067
            neuromuscular disease 3215
              muscular disease 2238
                muscle tissue disease 1373
                  myopathy 1068
                    congenital myopathy 248
                      congenital myopathy 15 1
paths to the root