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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 myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. (DO)
Synonyms:exact_synonym: Gowers disease;   Laing distal myopathy;   Laing early-onset distal myopathy;   MPD1;   distal 1 myopathies;   distal myopathy type 1
 primary_id: MIM:160500
 alt_id: OMIA:001200
 xref: GARD:10769;   ORDO:59135


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distal myopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir208b microRNA 208b ISO ClinVar Annotator: match by term: Laing early-onset distal myopathy ClinVar PMID:25741868 PMID:27247418 PMID:28492532 PMID:29121657 PMID:31638223 NCBI chr15:28,451,638...28,451,749
Ensembl chr15:28,451,638...28,451,749 		JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: Laing early-onset distal myopathy | ClinVar Annotator: match by term: Myopathy, distal, 1 ClinVar PMID:25741868 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: Laing early-onset distal myopathy | ClinVar Annotator: match by term: Myopathy, distal, 1 OMIM
ClinVar		 PMID:177788 PMID:564455 PMID:737223 PMID:901918 PMID:1052196 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 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        genetic disease 13376
          monogenic disease 10925
            autosomal genetic disease 10412
              autosomal dominant disease 6762
                distal myopathy 1 3
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        peripheral nervous system disease 4382
          neuropathy 4169
            neuromuscular disease 3218
              muscular disease 2225
                muscle tissue disease 1353
                  atrophic muscular disease 675
                    Brody myopathy 671
                      muscular dystrophy 655
                        distal myopathy 37
                          distal myopathy 1 3
paths to the root