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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:acromegaly
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Accession:DOID:2449 term browser browse the term
Definition:A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb. (DO)
Synonyms:exact_synonym: Inappropriate GH Secretion Syndrome (Acromegaly);   Inappropriate Growth Hormone Secretion Syndrome (Acromegaly);   somatotropin hypersecretion syndrome (acromegaly);   somatotropin hypersecretion syndromes (acromegaly)
 primary_id: MESH:D000172
 xref: EFO:1001485;   GARD:5725;   NCI:C84533
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
acromegaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1682667 PMID:3059976 PMID:6237480 PMID:7440347 PMID:9186818 More... NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:11254676 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1682667 PMID:9186818 PMID:18381583 PMID:18388193 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      endocrine system disease 6696
        Endocrine Bone Diseases 358
          acromegaly 3
            Acromegaloid Facial Appearance Syndrome 0
            Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 0
            Acromelic Frontonasal Dysplasia 0
            Growth Hormone Excess 0
            Pseudoacromegaly with Severe Insulin Resistance 0
            Rosenthal-Kloepfer Syndrome 0
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      nervous system disease 14109
        central nervous system disease 12333
          brain disease 11575
            thalamic disease 481
              hypothalamic disease 481
                pituitary gland disease 264
                  hyperpituitarism 100
                    acromegaly 3
                      Acromegaloid Facial Appearance Syndrome 0
                      Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 0
                      Acromelic Frontonasal Dysplasia 0
                      Growth Hormone Excess 0
                      Pseudoacromegaly with Severe Insulin Resistance 0
                      Rosenthal-Kloepfer Syndrome 0
paths to the root