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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


show annotations for term's descendants           Sort by:
myostatin-related muscle hypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9h2orf88 similar to human chromosome 2 open reading frame 88 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 Fkrp fukutin related protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:29571322 NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992 		JBrowse link
G Mstn myostatin ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:614160
ClinVar Annotator: match by term: Myostatin-related muscle hypertrophy		 CTD
OMIM
MouseDO
ClinVar		 PMID:10610713 PMID:11555072 PMID:15215484 PMID:19232494 PMID:19248183 More... NCBI chr 9:48,452,533...48,458,933
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 21128
    Pathological Conditions, Signs and Symptoms 13331
      Anatomical Pathological Conditions 2657
        Hypertrophy 1009
          myostatin-related muscle hypertrophy 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              muscular disease 2142
                muscle tissue disease 1289
                  myostatin-related muscle hypertrophy 3
paths to the root