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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:Brody myopathy
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Accession:DOID:0050692 term browser browse the term
Definition:A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located_in skeletal muscles.
Synonyms:exact_synonym: Brody disease;   autosomal recessive Brody myopathy
 primary_id: MESH:C536607
 alt_id: OMIM:601003;   RDO:0002237
 xref: GARD:9158
For additional species annotation, visit the Alliance of Genome Resources.


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Brody myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2a1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Brody myopathy
ClinVar Annotator: match by OMIM:601003
ClinVar Annotator: match by null
ClinVar
OMIM
PMID:8841193 PMID:9367679 PMID:10914677 PMID:17882224 PMID:19763152 PMID:20307669 PMID:22406018 PMID:23757202 PMID:23911890 PMID:24033266 PMID:24707176 PMID:25614869 PMID:25741868 PMID:26248958 PMID:26467025 PMID:28492532, PMID:8841193 RGD:734618 NCBI chr 1:197,855,912...197,875,038 JBrowse link
G Atxn2l ataxin 2-like ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 1:197,908,087...197,920,400
Ensembl chr 1:197,908,094...197,919,560
JBrowse link
G Rabep2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar NCBI chr 1:197,839,583...197,855,953
Ensembl chr 1:197,839,430...197,856,312
JBrowse link
G Sh2b1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 1:197,878,839...197,888,223
Ensembl chr 1:197,878,840...197,886,759
JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Brody myopathy ClinVar PMID:17882224 PMID:24707176 PMID:28492532 NCBI chr 1:197,903,582...197,907,189
Ensembl chr 1:197,903,582...197,907,189
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    physical disorder 2960
      congenital myopathy 32
        myotonia congenita 10
          Brody myopathy 5
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        peripheral nervous system disease 2431
          neuropathy 2235
            neuromuscular disease 1779
              muscular disease 1190
                muscle tissue disease 813
                  atrophic muscular disease 317
                    muscular dystrophy 315
                      myotonic disease 20
                        myotonia congenita 10
                          Brody myopathy 5
paths to the root