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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 9A
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Accession:DOID:0081343 term browser browse the term
Definition:A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. (DO)
Synonyms:exact_synonym: CMYO9A;   CMYP9A;   MYORIBF;   congenital myopathy 9A with respiratory insufficiency and bone fractures;   congenital myopathy with respiratory insufficiency and bone fractures
 alt_id: DOID:9006903
 xref: MIM:618822;   MONDO:0032936


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congenital myopathy 9A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Myopathy, congenital, with respiratory insufficiency and bone fractures OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30770808 NCBI chr 2:118,812,287...118,865,813
Ensembl chr 2:118,811,980...118,867,027 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Wounds and Injuries 1005
      Bone Fractures 88
        congenital myopathy 9A 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 9A 1
paths to the root