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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:myostatin-related muscle hypertrophy
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Accession:DOID:0111072 term browser browse the term
Definition:A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2. (DO)
Synonyms:exact_synonym: MSLHP;   muscle hypertrophy syndrome
 primary_id: MESH:C536106
 alt_id: OMIM:614160
 xref: GARD:10238;   ORDO:275534
For additional species annotation, visit the Alliance of Genome Resources.



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myostatin-related muscle hypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC685203 hypothetical protein LOC685203 ISO ClinVar Annotator: match by term: Myostatin-related muscle hypertrophy ClinVar PMID:10610713 PMID:11555072 PMID:15215484 PMID:19232494 PMID:20301671 More... NCBI chr 9:48,539,140...48,584,882
Ensembl chr 9:48,568,409...48,584,831
JBrowse link
G Mstn myostatin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myostatin-related muscle hypertrophy
CTD
OMIM
ClinVar
PMID:10610713 PMID:11555072 PMID:15215484 PMID:19232494 PMID:19248183 More... NCBI chr 9:48,453,982...48,458,809
Ensembl chr 9:48,452,533...48,458,933
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    Pathological Conditions, Signs and Symptoms 11380
      Anatomical Pathological Conditions 2274
        Hypertrophy 924
          myostatin-related muscle hypertrophy 2
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        peripheral nervous system disease 3064
          neuropathy 2846
            neuromuscular disease 2236
              muscular disease 1464
                muscle tissue disease 958
                  myostatin-related muscle hypertrophy 2
paths to the root