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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: CMYP15;   MYONRI;   MYOPATHY, CONGENITAL, WITH NEONATAL RESPIRATORY INSUFFICIENCY
 primary_id: OMIM:620161
 alt_id: DOID:9006710


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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 skeletal type ISO ClinVar Annotator: match by term: Congenital myopathy 15 OMIM
ClinVar		 PMID:33755597 NCBI chr20:42,162,502...42,172,829
Ensembl chr20:43,249,725...43,254,134 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15685
    disease of anatomical entity 15296
      respiratory system disease 3356
        Respiration Disorders 451
          respiratory failure 362
            neonatal respiratory failure 3
              congenital myopathy 15 1
Path 2
Term Annotations click to browse term
  disease 15685
    disease of anatomical entity 15296
      nervous system disease 13321
        peripheral nervous system disease 4051
          neuropathy 3859
            neuromuscular disease 3033
              muscular disease 2124
                muscle tissue disease 1279
                  myopathy 990
                    congenital myopathy 239
                      congenital myopathy 15 1
paths to the root