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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:growth hormone secreting pituitary adenoma
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Accession:DOID:6255 term browser browse the term
Definition:A pituitary tumor that secretes GROWTH HORMONE. In humans, excess HUMAN GROWTH HORMONE leads to ACROMEGALY.
Synonyms:exact_synonym: ACROMEGALY DUE TO PITUITARY ADENOMA 1;   FIS;   GH Secreting Pituitary Adenoma;   GH-Secreting Pituitary Adenomas;   IFS;   Isolated Familial Somatotropinoma;   Somatotroph Adenoma;   Somatotroph Adenomas;   acromegaly due to pituitary adenoma;   familial somatotrophinoma;   growth hormone producing adenoma of the pituitary;   growth hormone secreting adenoma of pituitary
 narrow_synonym: FIPA;   PAGH1 PITUITARY ADENOMA PREDISPOSITION;   PAP;   PITUITARY ADENOMA, FAMILIAL ISOLATED
 primary_id: MESH:D049912
 xref: EFO:0004125;   EFO:1000287;   NCI:C7461
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
growth hormone secreting pituitary adenoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by term: Somatotroph adenoma ClinVar PMID:2200621 PMID:5320367 PMID:9482716 PMID:9536098 PMID:12213383 More... NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:pituitary gland: RGD PMID:18981426 RGD:8662821 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1611713 PMID:2042694 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 Gpr101 G protein-coupled receptor 101 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO mRNA:decreased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228 		JBrowse link
G Men1 menin 1 ISS
ISO		 OMIM:102200
ClinVar Annotator: match by term: Somatotroph adenoma		 MouseDO
ClinVar		 PMID:30630164 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:2042694 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO mRNA:increased expression:pituitary gland RGD PMID:22580984 RGD:11667097 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
Familial Isolated Pituitary Adenoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by term: Familial isolated pituitary adenoma ClinVar PMID:22720333 PMID:24050928 PMID:25741868 PMID:26186299 PMID:26792934 More... NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122 		JBrowse link
G Alk ALK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Familial isolated pituitary adenoma ClinVar PMID:9536098 PMID:17576681 PMID:21838707 PMID:22072639 PMID:23104988 More... NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Familial isolated pituitary adenoma ClinVar PMID:25741868 NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979 		JBrowse link
growth hormone secreting pituitary adenoma 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr101 G protein-coupled receptor 101 ISO ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2 OMIM
ClinVar		 PMID:25470569 PMID:25741868 PMID:25806919 PMID:25806920 PMID:25806921 More... NCBI chr  X:135,540,042...135,543,958
Ensembl chr  X:135,540,042...135,543,958 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of cellular proliferation 7746
      benign neoplasm 2230
        cell type benign neoplasm 1969
          adenoma 718
            pituitary adenoma 29
              functioning pituitary adenoma 19
                growth hormone secreting pituitary adenoma 11
                  Familial Isolated Pituitary Adenoma 3
                  growth hormone secreting pituitary adenoma 2 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Nervous System Neoplasms 1648
          Central Nervous System Neoplasms 1445
            central nervous system cancer 799
              brain cancer 783
                supratentorial cancer 509
                  diencephalic neoplasm 62
                    hypothalamic neoplasm 62
                      Pituitary Neoplasms 60
                        pituitary gland benign neoplasm 29
                          pituitary adenoma 29
                            functioning pituitary adenoma 19
                              growth hormone secreting pituitary adenoma 11
                                Familial Isolated Pituitary Adenoma 3
                                growth hormone secreting pituitary adenoma 2 1
paths to the root