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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;   RDO:0001543
 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 NCBI chr 9:53,395,684...53,464,930
Ensembl chr 9:53,440,272...53,440,595
JBrowse link
G Mstn myostatin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Myostatin-related muscle hypertrophy
CTD
OMIM
ClinVar
PMID:15215484 PMID:19248183 NCBI chr 9:53,310,977...53,315,804
Ensembl chr 9:53,309,598...53,315,915
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Pathological Conditions, Signs and Symptoms 8761
      Anatomical Pathological Conditions 1554
        Hypertrophy 749
          myostatin-related muscle hypertrophy 2
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
                  myostatin-related muscle hypertrophy 2
paths to the root