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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:Gigantism
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Accession:DOID:9006084 term browser browse the term
Definition:The condition of accelerated and excessive GROWTH in children or adolescents who are exposed to excess HUMAN GROWTH HORMONE before the closure of EPIPHYSES. It is usually caused by somatotroph hyperplasia or a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age.
Synonyms:exact_synonym: Pituitary Gigantism
 primary_id: MESH:D005877;   RDO:0003166
For additional species annotation, visit the Alliance of Genome Resources.



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Gigantism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd26 ankyrin repeat domain containing 26 ISO RGD PMID:18162531 RGD:9681744 NCBI chr 4:151,670,604...151,740,032
Ensembl chr 4:151,672,037...151,739,968
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO DNA:missense mutation:cds:6605G>A(p.C2202Y)(human) RGD PMID:16222665 RGD:11568154 NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
JBrowse link
Rahman Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Rahman syndrome
ClinVar Annotator: match by term: RAHMAN SYNDROME
OMIM
ClinVar
PMID:23945933 PMID:25081361 PMID:25741868 PMID:25741869 PMID:28475857 More... NCBI chr17:41,486,634...41,487,293
Ensembl chr17:41,486,560...41,487,403
JBrowse link
Simpson-Golabi-Behmel syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 1
ClinVar Annotator: match by OMIM:312870
OMIM
ClinVar
PMID:9950367 PMID:10814714 PMID:12713262 PMID:16158429 PMID:17603795 More... NCBI chr  X:131,868,983...132,236,837
Ensembl chr  X:131,868,990...132,236,798
JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:131,644,711...131,755,349
Ensembl chr  X:131,644,704...131,755,284
JBrowse link
G Retsat retinol saturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19139408 NCBI chr 4:104,653,306...104,662,069
Ensembl chr 4:104,653,155...104,668,310
JBrowse link
Tatton-Brown-Rahman Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3a DNA methyltransferase 3 alpha ISO ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21067377 PMID:21518476 PMID:22160010 More... NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
Tenorio Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf125 ring finger protein 125 ISO ClinVar Annotator: match by term: Tenorio syndrome OMIM
ClinVar
PMID:25196541 PMID:25741868 PMID:28492532 NCBI chr18:12,254,066...12,275,719
Ensembl chr18:12,253,852...12,275,983
JBrowse link
THAUVIN-ROBINET-FAIVRE SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: THAUVIN-ROBINET-FAIVRE SYNDROME
ClinVar Annotator: match by term: Thauvin-Robinet-Faivre syndrome
ClinVar Annotator: match by term: Thauvin-robinet-faivre syndrome
ClinVar
OMIM
PMID:25741868 PMID:26660953 PMID:27183861 NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      bone development disease 1423
        Gigantism 9
          Rahman Syndrome 1
          Simpson-Golabi-Behmel syndrome type 1 3
          THAUVIN-ROBINET-FAIVRE SYNDROME 1
          Tatton-Brown-Rahman Syndrome 1
          Tenorio Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            thalamic disease 227
              hypothalamic disease 227
                pituitary gland disease 172
                  hyperpituitarism 34
                    Gigantism 9
                      Rahman Syndrome 1
                      Simpson-Golabi-Behmel syndrome type 1 3
                      THAUVIN-ROBINET-FAIVRE SYNDROME 1
                      Tatton-Brown-Rahman Syndrome 1
                      Tenorio Syndrome 1
paths to the root