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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:Myosclerosis, Autosomal Recessive
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Accession:DOID:9007626 term browser browse the term
Synonyms:exact_synonym: MYOSCLEROSIS;   Myopathy, Myosclerotic;   congenital myosclerosis of Lowenthal
 primary_id: MESH:C564968
 alt_id: OMIM:255600


show annotations for term's descendants           Sort by:
Myosclerosis, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col6a2 collagen type VI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL | ClinVar Annotator: match by term: Myosclerosis | ClinVar Annotator: match by term: Myosclerosis, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:4793163 PMID:9536098 PMID:12840783 PMID:15689448 PMID:16130093 More... NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564 		JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Myosclerosis ClinVar PMID:18414213 PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital structural myopathy 131
        Myosclerosis, Autosomal Recessive 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        peripheral nervous system disease 4107
          neuropathy 3892
            neuromuscular disease 3051
              muscular disease 2141
                muscle tissue disease 1288
                  myopathy 1003
                    congenital myopathy 238
                      congenital structural myopathy 131
                        Myosclerosis, Autosomal Recessive 2
paths to the root