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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:MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES
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Accession:DOID:9003754 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by severe muscle hypotonia apparent from birth, as well as developmental delay. Laboratory studies show increased serum creatine kinase and muscle biopsy shows nonspecific dystrophic features.
Synonyms:exact_synonym: MYOS
 primary_id: OMIM:620166


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MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with or without seizures OMIM
ClinVar		 PMID:16199547 PMID:21549339 PMID:23449775 PMID:24458321 PMID:25326637 More... NCBI chr10:88,585,291...88,605,642
Ensembl chr10:88,586,299...88,605,625 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    physical disorder 4964
      congenital muscular dystrophy 177
        MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        peripheral nervous system disease 4123
          neuropathy 3906
            neuromuscular disease 3058
              muscular disease 2147
                muscle tissue disease 1293
                  myopathy 1007
                    muscular dystrophy 599
                      congenital muscular dystrophy 177
                        MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES 1
paths to the root