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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.


show annotations for term's descendants           Sort by:
 
Gigantism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd26 ankyrin repeat domain 26 ISO RGD PMID:18162531 RGD:9681744 NCBI chr 4:150,548,656...150,616,928
Ensembl chr 4:150,547,467...150,616,895
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 chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
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
OMIM
PMID:23945933, PMID:25081361, PMID:25741868, PMID:25741869, PMID:28475857 NCBI chr17:43,734,461...43,735,120
Ensembl chr17:43,734,461...43,735,120
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
ClinVar Annotator: match by OMIM:312870
OMIM
ClinVar
PMID:9950367, PMID:10814714, PMID:16158429, PMID:17603795, PMID:17850639, PMID:18203194, PMID:19215053, PMID:23606591, PMID:24459012, PMID:25741868, PMID:26321508, PMID:28492532 NCBI chr  X:139,579,268...139,947,093
Ensembl chr  X:139,579,268...139,916,883
JBrowse link
G Gpc4 glypican 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:139,354,325...139,464,876
Ensembl chr  X:139,354,155...139,464,798
JBrowse link
G Retsat retinol saturase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19139408 NCBI chr 4:100,465,365...100,474,128
Ensembl chr 4:100,465,170...100,474,301
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:1423634, PMID:2717398, PMID:10325416, PMID:10433969, PMID:10555141, PMID:10647011, PMID:11399089, PMID:12138111, PMID:12359337, PMID:12575993, PMID:15063176, PMID:15672446, PMID:15739230, PMID:16357870, PMID:16501171, PMID:16725135, PMID:17445268, PMID:17878930, PMID:19344873, PMID:19854944, PMID:20228804, PMID:20651149, PMID:20729844, PMID:21067377, PMID:21507354, PMID:21518476, PMID:21844811, PMID:22160010, PMID:22495306, PMID:22722925, PMID:22744846, PMID:22898539, PMID:23849776, PMID:24606448, PMID:24614070, PMID:24622842, PMID:24656771, PMID:24728327, PMID:25741868, PMID:26619011, PMID:26866722, PMID:26876596, PMID:27317772, PMID:27701732, PMID:27991732, PMID:28263302, PMID:28386848, PMID:28475857, PMID:28492532, PMID:28667884, PMID:28941052, PMID:29900417, PMID:32860008 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Dpp6 dipeptidyl peptidase like 6 ISO ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:25741868 NCBI chr 4:4,021,021...4,943,675
Ensembl chr 4:4,021,008...4,473,307
JBrowse link
G Eif3f eukaryotic translation initiation factor 3, subunit F ISO ClinVar Annotator: match by term: Tatton-Brown-rahman syndrome ClinVar PMID:25741868, PMID:30311386, PMID:30409806 NCBI chr 1:173,532,826...173,541,806
Ensembl chr 1:173,532,803...173,541,847
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 chr18:15,193,226...15,225,454
Ensembl chr18:15,192,962...15,225,427
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:26660953, PMID:27183861 NCBI chr 1:220,840,078...220,844,412
Ensembl chr 1:220,840,118...220,844,405
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      bone development disease 1343
        Gigantism 11
          Rahman Syndrome 1
          Simpson-Golabi-Behmel syndrome type 1 3
          THAUVIN-ROBINET-FAIVRE SYNDROME 1
          Tatton-Brown-Rahman Syndrome 3
          Tenorio Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            thalamic disease 213
              hypothalamic disease 213
                pituitary gland disease 167
                  hyperpituitarism 37
                    Gigantism 11
                      Rahman Syndrome 1
                      Simpson-Golabi-Behmel syndrome type 1 3
                      THAUVIN-ROBINET-FAIVRE SYNDROME 1
                      Tatton-Brown-Rahman Syndrome 3
                      Tenorio Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.