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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:hypopituitarism
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Accession:DOID:9406 term browser browse the term
Definition:A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland. (DO)
Synonyms:exact_synonym: adenohypophyseal hyposecretion;   anterior pituitary hyposecretion syndrome;   pituitary hormone deficiency;   pituitary hypofunction;   pituitary insufficiency
 primary_id: MESH:D007018
 xref: EFO:0001380;   GARD:2917;   NCI:C62591;   ORDO:95494


show annotations for term's descendants           Sort by:
hypopituitarism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12970278 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12970278 NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Hypopituitarism ClinVar NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979 		JBrowse link
G Hesx1 HESX homeobox 1 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr16:2,191,852...2,193,957
Ensembl chr16:2,191,852...2,193,957 		JBrowse link
G Lhx3 LIM homeobox 3 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:21107737 RGD:10449406 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1304515 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062 		JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO
ISS		 combined pituitary hormone deficiency,OMIM:262600;DNA:point mutation:exon:R120C
OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986		 MouseDO
RGD		 PMID:9768691 RGD:1601503 NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO RGD PMID:14981518 RGD:1300422 NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Hypopituitarism ClinVar PMID:20159594 PMID:24285566 PMID:25741868 PMID:32060556 PMID:32573025 NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415 		JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: ACTH deficiency ClinVar PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 More... NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403 		JBrowse link
G Tbx19 T-box transcription factor 19 ISO
ISS		 OMIM:201400
ClinVar Annotator: match by term: ACTH deficiency | ClinVar Annotator: match by term: TBX19-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:2830787 PMID:9536098 PMID:11290323 PMID:12651888 PMID:15476446 More... NCBI chr13:77,450,848...77,484,475
Ensembl chr13:77,450,849...77,504,163 		JBrowse link
Alazami Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21937992 PMID:22865833 PMID:25741868 More... NCBI chr 2:215,997,641...216,012,833
Ensembl chr 2:215,997,649...216,012,865 		JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | ClinVar Annotator: match by term: IARS2-related condition OMIM
ClinVar		 PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501 		JBrowse link
combined or isolated pituitary growth hormone deficiency 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnpc3 RNA-binding region (RNP1, RRM) containing 3 ISO OMIM NCBI chr 2:201,432,769...201,457,015
Ensembl chr 2:201,432,684...201,456,747 		JBrowse link
combined or isolated pituitary hormone deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:25741868 NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311 		JBrowse link
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:3,337,478...3,364,015
Ensembl chr11:3,337,494...3,385,181 		JBrowse link
G Hesx1 HESX homeobox 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant/Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:21325470 PMID:23465708 PMID:24703149 PMID:25741868 PMID:28492532 More... NCBI chr16:2,191,852...2,193,957
Ensembl chr16:2,191,852...2,193,957 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:28492532 NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:25741868 NCBI chr13:67,877,109...67,917,219
Ensembl chr13:67,877,109...67,927,003 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: POU1F1-related condition | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1271194 PMID:1302000 PMID:1472057 PMID:1509262 PMID:1509263 More... NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801 		JBrowse link
combined or isolated pituitary hormone deficiency 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Robo1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined or isolated, 8 OMIM
ClinVar		 PMID:25741868 PMID:28402530 PMID:31448886 NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203 		JBrowse link
combined pituitary hormone deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined ClinVar PMID:16940453 PMID:25741868 PMID:28492532 NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined ClinVar PMID:15928241 PMID:22010633 PMID:25741868 PMID:27541381 PMID:28492532 More... NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801 		JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined ClinVar PMID:9462743 PMID:9745452 PMID:12519826 PMID:15963055 PMID:18157385 More... NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Panhypopituitarism ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
combined pituitary hormone deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:3,337,478...3,364,015
Ensembl chr11:3,337,494...3,385,181 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2 ClinVar PMID:2014036 PMID:3008810 PMID:3615198 PMID:9536098 PMID:9634518 More... NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:31755341 NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801 		JBrowse link
G Prop1 PROP paired-like homeobox 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive | ClinVar Annotator: match by term: PROP1-related condition | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9462743 PMID:9661653 PMID:9745452 PMID:9768691 PMID:9824293 More... NCBI chr10:35,271,959...35,274,434
Ensembl chr10:35,271,973...35,274,434 		JBrowse link
combined pituitary hormone deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhx3 LIM homeobox 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome		 OMIM
CTD
ClinVar		 PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 More... NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		JBrowse link
combined pituitary hormone deficiency 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: LHX4-related condition | ClinVar Annotator: match by term: Short stature-pituitary and cerebellar defects-small sella turcica syndrome ClinVar PMID:11567216 PMID:17201807 PMID:17527005 PMID:18073311 PMID:18445675 More... NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311 		JBrowse link
G Lhx4 LIM homeobox 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LHX4-related condition | ClinVar Annotator: match by term: Short stature-pituitary and cerebellar defects-small sella turcica syndrome		 OMIM
CTD
ClinVar		 PMID:11567216 PMID:17201807 PMID:17527005 PMID:18073311 PMID:18445675 More... NCBI chr13:67,877,109...67,917,219
Ensembl chr13:67,877,109...67,927,003 		JBrowse link
Combined Pituitary Hormone Deficiency 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hesx1 HESX homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES | ClinVar Annotator: match by term: Growth hormone deficiency with pituitary anomalies | ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED, 5		 CTD
ClinVar		 PMID:2700987 PMID:10599689 PMID:11136712 PMID:11748154 PMID:14561704 More... NCBI chr16:2,191,852...2,193,957
Ensembl chr16:2,191,852...2,193,957 		JBrowse link
combined pituitary hormone deficiency 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:28492532 NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311 		JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr13:67,877,109...67,917,219
Ensembl chr13:67,877,109...67,927,003 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 6 OMIM
ClinVar		 PMID:3442652 PMID:17541950 PMID:18728160 PMID:22715480 PMID:25741868 More... NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416 		JBrowse link
Culler-Jones syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Culler-Jones syndrome | ClinVar Annotator: match by term: GLI2-related disorder OMIM
ClinVar		 PMID:6726521 PMID:9536098 PMID:15994174 PMID:16327884 PMID:17576681 More... NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
developmental and epileptic encephalopathy 105 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hid1 HID1 domain containing ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 105 with hypopituitarism OMIM
ClinVar		 PMID:25741868 PMID:28600779 PMID:33999436 NCBI chr10:100,589,555...100,610,050
Ensembl chr10:100,589,555...100,610,041 		JBrowse link
holoprosencephaly 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Cerebellar cyst | ClinVar Annotator: match by term: GLI2-related condition | ClinVar Annotator: match by term: HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES | ClinVar Annotator: match by term: Holoprosencephaly 9
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1756909 PMID:3320637 PMID:9536098 PMID:10725236 PMID:14581620 More... NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
Idiopathic Short Stature, Autosomal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Growth hormone, insensitivity to, partial | ClinVar Annotator: match by term: Short stature, idiopathic, autosomal
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7565946 PMID:8504296 PMID:9140387 PMID:9360502 PMID:9814495 More... NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO DNA:missense mutation:exon:p.L127P (c.380T>C) (human) RGD PMID:23488611 RGD:12910853 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
G Spag17 sperm associated antigen 17 ISO DNA:snp:enhancer:C>G (rs17038182) (human) RGD PMID:19893584 RGD:11535959 NCBI chr 2:187,264,004...187,511,061
Ensembl chr 2:187,264,009...187,510,501 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Intellectual disability, X-linked, with panhypopituitarism | ClinVar Annotator: match by term: SOX3-related condition | ClinVar Annotator: match by term: X-linked intellectual disability with isolated growth hormone deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8826446 PMID:12428212 PMID:21289259 PMID:23757202 PMID:25741868 More... NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
isolated growth hormone deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More... NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312 		JBrowse link
G Gh1 growth hormone 1 ISO DNA:deletions: :
ClinVar Annotator: match by term: Growth hormone deficiency | ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency		 ClinVar
RGD		 PMID:9152628 PMID:12655556 PMID:12655557 PMID:13572267 PMID:15001589 More... RGD:12904703 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Ghr growth hormone receptor ISO Laron syndrome,OMIM:262500;DNA:deletion RGD PMID:2813379 RGD:1601315 NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO
IAGP		 isolated growth hormone deficiency IB,OMIM:262400;DNA:point mutation:exon:E72X
ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency
DNA:deletion		 ClinVar
RGD		 PMID:8528260 PMID:9845677 RGD:1601337, RGD:1601338 NCBI chr 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776 		JBrowse link
G Ghsr growth hormone secretagogue receptor IEP mRNA:increased expression:pituitary: RGD PMID:9822798 RGD:12904721 NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865 		JBrowse link
G Hpca hippocalcin ISO protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) RGD PMID:7882001 RGD:9693682 NCBI chr 5:141,455,616...141,466,252
Ensembl chr 5:141,455,613...141,463,841 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO protein:decreased expression:serum RGD PMID:11248743 RGD:12910859 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9392392 NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801 		JBrowse link
G Rnpc3 RNA-binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar PMID:24480542 PMID:29255062 NCBI chr 2:201,432,769...201,457,015
Ensembl chr 2:201,432,684...201,456,747 		JBrowse link
G Tg thyroglobulin IAGP RGD PMID:11089535 PMID:3366187 RGD:730133, RGD:12880373 NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210 		JBrowse link
G Tgrdw thyroglobulin; rdw mutant IAGP RGD PMID:11089535 PMID:3366187 RGD:730133, RGD:12880373
isolated growth hormone deficiency type IA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Growth hormone deficiency, isolated autosomal recessive ClinVar PMID:24389050 PMID:25558065 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Cript CXXC repeat containing interactor of PDZ3 domain ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 NCBI chr 6:7,581,428...7,589,384
Ensembl chr 6:7,580,703...7,589,399 		JBrowse link
G Dna2 DNA replication helicase/nuclease 2 ISO DNA:mutation:cds: RGD PMID:24389050 RGD:8694132 NCBI chr20:25,661,652...25,690,598
Ensembl chr20:25,662,055...25,716,319 		JBrowse link
G Gh1 growth hormone 1 ISO ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B | ClinVar Annotator: match by term: Pituitary dwarfism 1
CTD Direct Evidence: marker/mechanism
DNA:deletion: :		 OMIM
ClinVar
CTD
RGD		 PMID:2347891 PMID:8364549 PMID:8496314 PMID:8530604 PMID:9152628 More... RGD:12904729 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Ghrh growth hormone releasing hormone ISS OMIM:262400 MouseDO NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B ClinVar PMID:10944436 PMID:10946881 PMID:11298081 PMID:11502843 PMID:12163232 More... NCBI chr 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776 		JBrowse link
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:22840364 PMID:25558065 PMID:25741868 PMID:26336158 PMID:26374189 More... NCBI chr 8:106,922,058...106,991,678
Ensembl chr 8:106,922,978...106,991,089 		JBrowse link
G Xrcc4 X-ray repair cross complementing 4 ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 PMID:25728776 PMID:25741868 PMID:26255102 NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808 		JBrowse link
isolated growth hormone deficiency type IB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO ClinVar Annotator: match by term: IGHD IB | ClinVar Annotator: match by term: Idiopathic growth hormone deficiency | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8496314 PMID:8530604 PMID:9152628 PMID:9385381 PMID:10372722 More... NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: DWARFISM OF SINDH | ClinVar Annotator: match by term: GHRHR-related condition | ClinVar Annotator: match by term: IGHD IB | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB OMIM
ClinVar		 PMID:8528260 PMID:9467553 PMID:9814493 PMID:10084571 PMID:10566659 More... NCBI chr 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776 		JBrowse link
isolated growth hormone deficiency type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO
ISS		 ClinVar Annotator: match by term: IGHD II | ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
OMIM:173100
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 More... NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
G Med13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chr10:71,086,978...71,176,535
Ensembl chr10:71,090,516...71,177,242 		JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13a ARF like GTPase 13A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,380,370...97,406,704
Ensembl chr  X:97,380,390...97,406,702 		JBrowse link
G Armcx1 armadillo repeat containing, X-linked 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,898,969...97,902,874
Ensembl chr  X:97,898,883...97,903,299 		JBrowse link
G Armcx2 armadillo repeat containing, X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,980,662...97,985,523
Ensembl chr  X:97,980,660...97,985,552 		JBrowse link
G Armcx3 armadillo repeat containing, X-linked 3 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,937,115...97,942,098
Ensembl chr  X:97,936,999...97,942,098 		JBrowse link
G Armcx4 armadillo repeat containing, X-linked 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,860,526...97,870,912
Ensembl chr  X:97,860,629...97,870,912 		JBrowse link
G Armcx6 armadillo repeat containing, X-linked 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,929,032...97,932,031
Ensembl chr  X:97,929,041...97,931,977 		JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: BTK-related condition | ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7627183 More... NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Cenpi centromere protein I ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,515,919...97,567,671
Ensembl chr  X:97,515,972...97,567,657 		JBrowse link
G Cstf2 cleavage stimulation factor subunit 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,253,559...97,279,476
Ensembl chr  X:97,253,586...97,279,476 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,607,577...97,658,117
Ensembl chr  X:97,607,719...97,655,684 		JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:97,769,227...97,780,646
Ensembl chr  X:97,768,996...97,780,664 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:97,780,890...97,786,846
Ensembl chr  X:97,780,785...97,787,041 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,279,058...97,332,291
Ensembl chr  X:97,279,056...97,302,236 		JBrowse link
G Nxf7 nuclear RNA export factor 7 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:98,535,374...98,552,562
Ensembl chr  X:98,535,375...98,552,526 		JBrowse link
G Pcdh19 protocadherin 19 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:96,767,686...96,873,477
Ensembl chr  X:96,771,947...96,873,524 		JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:97,766,179...97,768,892
Ensembl chr  X:97,766,179...97,768,892
Ensembl chr20:97,766,179...97,768,892 		JBrowse link
G Srpx2 sushi-repeat-containing protein, X-linked 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,106,455...97,132,197
Ensembl chr  X:97,106,561...97,132,195 		JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,135,496...97,185,867
Ensembl chr  X:97,135,500...97,185,854 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7-like ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,660,222...97,675,241
Ensembl chr  X:97,660,222...97,675,023 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 More... NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
G Tmem35a transmembrane protein 35A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,503,350...97,514,198
Ensembl chr  X:97,503,350...97,514,197 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,057,137...97,072,634
Ensembl chr  X:97,057,137...97,072,634 		JBrowse link
G Trmt2b tRNA methyltransferase 2 homolog B ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,425,712...97,483,821 JBrowse link
G Tspan6 tetraspanin 6 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,092,394...97,099,659
Ensembl chr  X:97,092,388...97,099,309 		JBrowse link
G Xkrx XK related, X-linked ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:97,341,158...97,353,175
Ensembl chr  X:97,341,152...97,354,759 		JBrowse link
Isolated Growth Hormone Deficiency, Partial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency ClinVar PMID:7565946 PMID:8504296 PMID:9140387 PMID:9360502 PMID:9814495 More... NCBI chr 2:52,541,452...52,804,960
Ensembl chr 2:52,542,594...52,804,735 		JBrowse link
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: GHSR-related condition | ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency OMIM
ClinVar		 PMID:14715843 PMID:16511605 PMID:17596538 PMID:17717076 PMID:19789204 More... NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865 		JBrowse link
Kowarski Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh1 growth hormone 1 ISO DNA:point mutation:exon:p.D122G (human)
ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8530604 PMID:8552145 PMID:9152628 PMID:9276733 PMID:10372722 More... RGD:1601313 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078 		JBrowse link
RHYNS Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: RHYNS syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa syndrome OMIM
ClinVar		 PMID:2929661 PMID:9375913 PMID:17160906 PMID:17377820 PMID:17397051 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
Schaaf-Yang syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyfip1 cytoplasmic FMR1 interacting protein 1 ISO associated with Fragile X Syndrome;mRNA:decreased expression:leukocyte (human) RGD PMID:17435464 RGD:11558012 NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386 		JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: MAGEL2-related condition | ClinVar Annotator: match by term: Schaaf-Yang syndrome OMIM
ClinVar		 PMID:24076603 PMID:24088041 PMID:25326635 PMID:25473036 PMID:25590979 More... NCBI chr 1:115,880,142...115,884,684
Ensembl chr 1:115,880,474...115,884,250 		JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-Yang syndrome ClinVar NCBI chr20:53,827,601...53,907,219
Ensembl chr20:53,828,364...53,907,212 		JBrowse link
X-Linked Mental Retardation with Isolated Growth Hormone Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox3 SRY-box transcription factor 3 ISO DNA:duplication:cds:c.712_744dup (human) RGD PMID:12428212 RGD:11535974 NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
X-linked panhypopituitarism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: PITUITARY DWARFISM IV | ClinVar Annotator: match by term: Panhypopituitarism, X-linked
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15800844 PMID:21289259 PMID:25741868 PMID:28492532 NCBI chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      endocrine system disease 7034
        pituitary gland disease 275
          hypopituitarism 75
            Congenital Hypopituitarism with Central Diabetes Insipidus 0
            Culler-Jones syndrome 1
            Dincsoy Salih Patel Syndrome 0
            Kaplowitz Bodurtha syndrome 0
            Prolactin Deficiency with Obesity and Enlarged Testes 0
            RHYNS Syndrome 1
            Schaaf-Yang syndrome 3
            Sheehan syndrome 0
            adrenocorticotropic hormone deficiency 2
            combined pituitary hormone deficiency + 13
            developmental and epileptic encephalopathy 105 1
            holoprosencephaly 9 1
            isolated growth hormone deficiency + 50
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          brain disease 11845
            hypothalamic disease 509
              pituitary gland disease 275
                hypopituitarism 75
                  Congenital Hypopituitarism with Central Diabetes Insipidus 0
                  Culler-Jones syndrome 1
                  Dincsoy Salih Patel Syndrome 0
                  Kaplowitz Bodurtha syndrome 0
                  Prolactin Deficiency with Obesity and Enlarged Testes 0
                  RHYNS Syndrome 1
                  Schaaf-Yang syndrome 3
                  Sheehan syndrome 0
                  adrenocorticotropic hormone deficiency 2
                  combined pituitary hormone deficiency + 13
                  developmental and epileptic encephalopathy 105 1
                  holoprosencephaly 9 1
                  isolated growth hormone deficiency + 50
paths to the root