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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:autosomal dominant hyaline body myopathy
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Accession:DOID:0111269 term browser browse the term
Definition:A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2. (DO)
Synonyms:exact_synonym: MSMA;   myopathy with lysis of type I myofibrils;   myosin storage myopathy, autosomal dominant
 primary_id: MESH:C564253
 alt_id: OMIM:608358
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant hyaline body myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Myosin storage myopathy
DNA:missense mutation: :p.R1845W (23014C>T) (human)
ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS
OMIM
ClinVar
PMID:1430197 PMID:1552912 PMID:1638703 PMID:1944483 PMID:1975517 PMID:7581410 PMID:7662452 PMID:7731997 PMID:7848420 PMID:8186698 PMID:8254035 PMID:8268932 PMID:8533830 PMID:9105042 PMID:9140839 PMID:9826622 PMID:9835779 PMID:10024460 PMID:10065021 PMID:10328076 PMID:10521296 PMID:10725281 PMID:10750581 PMID:10882745 PMID:11133230 PMID:11186938 PMID:11447480 PMID:11498078 PMID:11723028 PMID:11861410 PMID:11861413 PMID:11968089 PMID:12081993 PMID:12379228 PMID:12707239 PMID:12818575 PMID:12820698 PMID:12975413 PMID:14520662 PMID:15010274 PMID:15136674 PMID:15358028 PMID:15483641 PMID:15528230 PMID:15556047 PMID:15563892 PMID:15699387 PMID:15757018 PMID:15769782 PMID:15856146 PMID:15858117 PMID:16115294 PMID:16137545 PMID:16199542 PMID:16253604 PMID:16267253 PMID:16630449 PMID:16858239 PMID:16918501 PMID:17118657 PMID:17125710 PMID:17336526 PMID:17438619 PMID:17476457 PMID:17560888 PMID:17612745 PMID:18029407 PMID:18374998 PMID:18383048 PMID:18403758 PMID:18409188 PMID:18414213 PMID:18533079 PMID:18555187 PMID:18761664 PMID:18953637 PMID:19149795 PMID:19150014 PMID:19336582 PMID:19412328 PMID:19645038 PMID:19880069 PMID:20031618 PMID:20086309 PMID:20350521 PMID:20376763 PMID:20474083 PMID:20664766 PMID:20800588 PMID:20817590 PMID:20975235 PMID:21127202 PMID:21239446 PMID:21302287 PMID:21310275 PMID:21896538 PMID:21959974 PMID:22112859 PMID:22337857 PMID:22429680 PMID:22455086 PMID:22763267 PMID:22765922 PMID:22857948 PMID:22958901 PMID:23054336 PMID:23074333 PMID:23197161 PMID:23233322 PMID:23283745 PMID:23290139 PMID:23299917 PMID:23349452 PMID:23396983 PMID:23403236 PMID:23508784 PMID:23549607 PMID:23674513 PMID:23690394 PMID:23711808 PMID:23751935 PMID:23785128 PMID:23794396 PMID:23861362 PMID:24033266 PMID:24047955 PMID:24093860 PMID:24111713 PMID:24298987 PMID:24503780 PMID:24510615 PMID:24691700 PMID:24704860 PMID:24721642 PMID:24793961 PMID:25031304 PMID:25086479 PMID:25125180 PMID:25132132 PMID:25163446 PMID:25163546 PMID:25342278 PMID:25351510 PMID:25524337 PMID:25611685 PMID:25637381 PMID:25649125 PMID:25714468 PMID:25741868 PMID:25937619 PMID:26220970 PMID:26332594 PMID:26458567 PMID:26467025 PMID:26497160 PMID:26573135 PMID:26688388 PMID:26743238 PMID:26914223 PMID:26936621 PMID:26969327 PMID:27082122 PMID:27153395 PMID:27247418 PMID:27532257 PMID:27576561 PMID:27600940 PMID:27707468 PMID:27737317 PMID:27831900 PMID:27841901 PMID:27854218 PMID:27974200 PMID:28138913 PMID:28193612 PMID:28241245 PMID:28356264 PMID:28408708 PMID:28420666 PMID:28481356 PMID:28492532 PMID:28518168 PMID:28588093 PMID:28606303 PMID:28615295 PMID:28790153 PMID:28798025 PMID:28878402 PMID:29121657 PMID:29212898 PMID:29300372 PMID:30297972 PMID:30511546 PMID:30871747 PMID:31006259 PMID:31333075 PMID:31493341 PMID:31568572, PMID:14520662 RGD:12792959 NCBI chr15:33,605,769...33,657,761
Ensembl chr15:33,634,422...33,656,089
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital myopathy 30
        hyaline body myopathy 2
          autosomal dominant hyaline body myopathy 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    congenital myopathy 30
                      hyaline body myopathy 2
                        autosomal dominant hyaline body myopathy 1
paths to the root