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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:distal myopathy 1
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Accession:DOID:0070197 term browser browse the term
Definition:A distal muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11. (DO)
Synonyms:exact_synonym: Gowers disease;   Laing distal myopathy;   Laing early-onset distal myopathy;   MPD1;   distal 1 myopathies;   distal myopathy type 1
 primary_id: OMIM:160500
 alt_id: OMIA:001200
 xref: GARD:10769;   ORDO:59135
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
distal myopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Myopathy, distal, 1 ClinVar NCBI chr15:28,418,120...28,442,316
Ensembl chr15:28,417,616...28,441,720
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Myopathy, distal, 1
ClinVar Annotator: match by term: Laing distal myopathy
ClinVar Annotator: match by term: Laing early-onset distal myopathy
ClinVar
OMIM
PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                distal myopathy 1 2
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              muscular disease 1236
                muscle tissue disease 827
                  myopathy 661
                    muscular dystrophy 323
                      distal myopathy 25
                        distal myopathy 1 2
paths to the root