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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 14
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Accession:DOID:0081346 term browser browse the term
Definition:A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time. (DO)
Synonyms:exact_synonym: CMYO14;   CMYP14;   Congenital Myopathy with Fast-Twitch (Type ii) Fiber Atrophy;   MYL1-RELATED CONDITION;   MYOFTA;   congenital myopathy with reduced type 2 muscle fibers
 alt_id: DOID:9001348
 xref: MIM:618414;   MONDO:0034109;   ORDO:544602


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congenital myopathy 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl1 myosin, light chain 1 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 14 | ClinVar Annotator: match by term: Congenital myopathy with reduced type 2 muscle fibers | ClinVar Annotator: match by term: MYL1-related condition OMIM
ClinVar		 PMID:25741868 PMID:30215711 Ensembl chr 9:75,887,227...75,907,971 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        muscular disease 2244
          muscle tissue disease 1363
            atrophic muscular disease 21
              congenital myopathy 14 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              muscular disease 2244
                muscle tissue disease 1363
                  myopathy 1058
                    congenital myopathy 252
                      congenital myopathy 14 1
paths to the root