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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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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14165
    disease of anatomical entity 13877
      respiratory system disease 3136
        Respiration Disorders 418
          respiratory failure 331
            neonatal respiratory failure 2
              congenital myopathy 15 0
Path 2
Term Annotations click to browse term
  disease 14165
    disease of anatomical entity 13877
      nervous system disease 12184
        peripheral nervous system disease 3948
          neuropathy 3770
            neuromuscular disease 2970
              muscular disease 2059
                muscle tissue disease 1243
                  myopathy 947
                    congenital myopathy 236
                      congenital myopathy 15 0
paths to the root