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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 with Fast-Twitch (Type ii) Fiber Atrophy
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Accession:DOID:9001348 term browser browse the term
Definition:An autosomal recessive skeletal muscle disorder characterized by onset of severe muscle weakness apparent at birth and sometimes in utero. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time. Other features include delayed motor development with delayed walking, hypo- or areflexia, and high-arched palate. Skeletal muscle biopsy shows variation in fiber size with specific atrophy of the fast-twitch type II fibers. Cardiac muscle is not affected. MYOFTA is caused by homozygous mutation in the MYL1 gene on chromosome 2q32. (OMIM)
Synonyms:exact_synonym: MYOFTA
 primary_id: OMIM:618414
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Myopathy with Fast-Twitch (Type ii) Fiber Atrophy 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: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY OMIM
ClinVar
PMID:25741868 PMID:30215711 NCBI chr 9:73,937,820...73,958,480
Ensembl chr 9:73,937,823...73,958,480
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital myopathy 30
        Congenital Myopathy with Fast-Twitch (Type ii) Fiber Atrophy 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    congenital myopathy 30
                      Congenital Myopathy with Fast-Twitch (Type ii) Fiber Atrophy 1
paths to the root