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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: MIM:614160
 xref: GARD:10238;   ORDO:275534

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myostatin-related muscle hypertrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH2orf88 chromosome unknown C2orf88 homolog ISO ClinVar Annotator: match by term: Myostatin-related muscle hypertrophy ClinVar PMID:10610713 PMID:11555072 PMID:15215484 PMID:19232494 PMID:20301671 More... NCBI chrNW_004624854:5,770,852...5,846,616 JBrowse link
G Mstn myostatin ISO ClinVar Annotator: match by term: Myostatin-related muscle hypertrophy OMIM
ClinVar		 PMID:10610713 PMID:11555072 PMID:15215484 PMID:19232494 PMID:20301671 More... NCBI chrNW_004624854:5,893,051...5,899,380
Ensembl chrNW_004624854:5,892,938...5,899,473 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    Pathological Conditions, Signs and Symptoms 11236
      Anatomical Pathological Conditions 2376
        Hypertrophy 902
          myostatin-related muscle hypertrophy 2
Path 2
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      nervous system disease 12255
        peripheral nervous system disease 3959
          neuropathy 3780
            neuromuscular disease 2978
              muscular disease 2065
                muscle tissue disease 1242
                  myostatin-related muscle hypertrophy 2
paths to the root