Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12970278 NCBI chr28:15,292,959...15,298,896
Ensembl chr28:15,293,106...15,298,852 		JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12970278 NCBI chr30:16,954,020...17,056,728
Ensembl chr30:16,957,215...16,988,353 		JBrowse link
G GNAI2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Hypopituitarism ClinVar NCBI chr20:39,075,085...39,094,697
Ensembl chr20:39,075,085...39,094,697 		JBrowse link
G HESX1 HESX homeobox 1 ISO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr20:33,193,813...33,197,226
Ensembl chr20:33,195,123...33,196,601 		JBrowse link
G LHX3 LIM homeobox 3 ISO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:21107737 RGD:10449406 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G PRL prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1304515 NCBI chr35:20,673,830...20,683,824
Ensembl chr35:20,673,839...20,683,824 		JBrowse link
G PROP1 PROP paired-like homeobox 1 ISO combined pituitary hormone deficiency,OMIM:262600;DNA:point mutation:exon:R120C
OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986		 RGD
MouseDO		 PMID:9768691 RGD:1601503 NCBI chr11:2,739,958...2,742,576
Ensembl chr11:2,739,958...2,743,533 		JBrowse link
G SMPD3 sphingomyelin phosphodiesterase 3 ISO OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr 5:81,089,657...81,172,173
Ensembl chr 5:81,142,888...81,172,189 		JBrowse link
G SOX3 SRY-box transcription factor 3 ISO RGD PMID:14981518 RGD:1300422 NCBI chr  X:110,361,354...110,363,458
Ensembl chr  X:110,362,124...110,363,458 		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 chr 1:60,662,704...60,873,881
Ensembl chr 1:60,667,721...60,873,614 		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 6:76,887,399...76,911,133
Ensembl chr 6:76,887,399...76,911,131 		JBrowse link
G TBX19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: ACTH deficiency | ClinVar Annotator: match by term: TBX19-related condition OMIM
ClinVar		 PMID:2830787 PMID:9536098 PMID:11290323 PMID:12651888 PMID:15476446 More... NCBI chr 7:30,198,912...30,248,410
Ensembl chr 7:30,185,850...30,365,512 		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 chr23:10,559,722...10,572,933
Ensembl chr23:10,559,718...10,572,927 		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 chr32:32,421,648...32,439,431
Ensembl chr32:32,421,675...32,439,131 		JBrowse link
G MIR302D microRNA mir-302d ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr32:32,429,032...32,429,101
Ensembl chr32:32,429,032...32,429,101 		JBrowse link
G MIR367 microRNA mir-367 ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr32:32,428,905...32,428,972
Ensembl chr32:32,428,905...32,428,972 		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 chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635 		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 ClinVar Annotator: match by term: Isolated growth hormone deficiency, type 5 OMIM
ClinVar		 PMID:24480542 PMID:25741868 PMID:29255062 PMID:32462814 PMID:33650182 NCBI chr 6:46,960,033...47,044,272
Ensembl chr 6:47,016,038...47,044,236 		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 chr 7:13,836,665...14,043,996
Ensembl chr 7:13,836,667...14,044,156 		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 chr31:789,586...817,925
Ensembl chr31:791,139...817,895 		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 chr20:33,193,813...33,197,226
Ensembl chr20:33,195,123...33,196,601 		JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:28492532 NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118 		JBrowse link
G LHX4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:25741868 NCBI chr 7:13,779,574...13,825,650
Ensembl chr 7:13,779,774...13,821,317 		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 OMIM
ClinVar		 PMID:1271194 PMID:1302000 PMID:1472057 PMID:1509262 PMID:1509263 More... NCBI chr31:769,454...788,761
Ensembl chr31:769,487...787,626 		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 chr31:8,082,363...8,594,623
Ensembl chr31:7,626,126...8,593,728 		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:20389107 PMID:25741868 PMID:28492532 NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118 		JBrowse link
G OTX2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:32,435,169...32,445,093
Ensembl chr 8:32,435,863...32,445,446 		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 chr31:769,454...788,761
Ensembl chr31:769,487...787,626 		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 chr11:2,739,958...2,742,576
Ensembl chr11:2,739,958...2,743,533 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Panhypopituitarism ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		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 chr31:789,586...817,925
Ensembl chr31:791,139...817,895 		JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118 		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 chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837 		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 chr31:769,454...788,761
Ensembl chr31:769,487...787,626 		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 OMIM
ClinVar		 PMID:9462743 PMID:9661653 PMID:9745452 PMID:9768691 PMID:9824293 More... NCBI chr11:2,739,958...2,742,576
Ensembl chr11:2,739,958...2,743,533 		JBrowse link
combined pituitary hormone deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXA2 forkhead box A2 ISO ClinVar Annotator: match by term: Non-acquired combined pituitary hormone deficiency ClinVar PMID:25741868 PMID:29329447 PMID:30414530 PMID:33729509 PMID:33999151 NCBI chr24:1,010,370...1,013,791
Ensembl chr24:1,010,651...1,013,072 		JBrowse link
G LHX3 LIM homeobox 3 ISO ClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome OMIM
ClinVar		 PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 More... NCBI chr 9:49,248,555...49,254,128
Ensembl chr 9:49,248,621...49,254,118 		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 chr 7:13,836,665...14,043,996
Ensembl chr 7:13,836,667...14,044,156 		JBrowse link
G LHX4 LIM homeobox 4 ISO ClinVar Annotator: match by term: LHX4-related condition | ClinVar Annotator: match by term: Short stature-pituitary and cerebellar defects-small sella turcica syndrome OMIM
ClinVar		 PMID:11567216 PMID:17201807 PMID:17527005 PMID:18073311 PMID:18445675 More... NCBI chr 7:13,779,574...13,825,650
Ensembl chr 7:13,779,774...13,821,317 		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 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 ClinVar PMID:2700987 PMID:10599689 PMID:11136712 PMID:11748154 PMID:14561704 More... NCBI chr20:33,193,813...33,197,226
Ensembl chr20:33,195,123...33,196,601 		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 chr 7:13,836,665...14,043,996
Ensembl chr 7:13,836,667...14,044,156 		JBrowse link
G LHX4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:13,779,574...13,825,650
Ensembl chr 7:13,779,774...13,821,317 		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 chr 8:32,435,169...32,445,093
Ensembl chr 8:32,435,863...32,445,446 		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 chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658 		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 chr 9:5,491,944...5,505,096
Ensembl chr 9:5,486,318...5,504,508 		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 OMIM
ClinVar		 PMID:1756909 PMID:3320637 PMID:9536098 PMID:10725236 PMID:14581620 More... NCBI chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658 		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 OMIM
ClinVar		 PMID:1999489 PMID:7565946 PMID:8488849 PMID:8504296 PMID:9140387 More... NCBI chr 4:67,021,821...67,245,499
Ensembl chr 4:67,022,252...67,290,473 		JBrowse link
G GHSR growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar NCBI chr34:36,691,132...36,694,304
Ensembl chr34:36,690,224...36,694,312 		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 chr 6:39,115,744...39,118,831
Ensembl chr 6:39,114,315...39,119,652 		JBrowse link
G SPAG17 sperm associated antigen 17 ISO DNA:snp:enhancer:C>G (rs17038182) (human) RGD PMID:19893584 RGD:11535959 NCBI chr17:55,248,136...55,468,036
Ensembl chr17:55,248,137...55,467,902 		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 OMIM
ClinVar		 PMID:8826446 PMID:12428212 PMID:21289259 PMID:23757202 PMID:25741868 More... NCBI chr  X:110,361,354...110,363,458
Ensembl chr  X:110,362,124...110,363,458 		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 chr24:37,211,776...37,245,938
Ensembl chr24:37,213,942...37,243,702 		JBrowse link
G GHR growth hormone receptor ISO Laron syndrome,OMIM:262500;DNA:deletion RGD PMID:2813379 RGD:1601315 NCBI chr 4:67,021,821...67,245,499
Ensembl chr 4:67,022,252...67,290,473 		JBrowse link
G GHRHR growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency ClinVar NCBI chr14:43,626,862...43,638,737
Ensembl chr14:43,626,845...43,638,753 		JBrowse link
G GHSR growth hormone secretagogue receptor ISO mRNA:increased expression:pituitary: RGD PMID:9822798 RGD:12904721 NCBI chr34:36,691,132...36,694,304
Ensembl chr34:36,690,224...36,694,312 		JBrowse link
G HPCA hippocalcin ISO protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) RGD PMID:7882001 RGD:9693682 NCBI chr 2:68,464,631...68,473,661
Ensembl chr 2:68,465,280...68,473,310 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO protein:decreased expression:serum RGD PMID:11248743 RGD:12910859 NCBI chr 6:39,115,744...39,118,831
Ensembl chr 6:39,114,315...39,119,652 		JBrowse link
G POU1F1 POU class 1 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9392392 NCBI chr31:769,454...788,761
Ensembl chr31:769,487...787,626 		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 6:46,960,033...47,044,272
Ensembl chr 6:47,016,038...47,044,236 		JBrowse link
G TG thyroglobulin ISO RGD PMID:3366187 PMID:11089535 RGD:12880373 RGD:730133 NCBI chr13:29,350,726...29,597,908
Ensembl chr13:29,350,688...29,598,040 		JBrowse link
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 chr25:7,734,450...7,797,851
Ensembl chr25:7,734,453...7,797,815 		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 chr10:48,840,243...48,851,461
Ensembl chr10:48,839,509...48,851,258 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 NCBI chr 4:19,626,001...19,683,819
Ensembl chr 4:19,626,977...19,684,660 		JBrowse link
G GH1 growth hormone ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:11,832,265...11,834,123
Ensembl chr 9:11,832,265...11,834,123 		JBrowse link
G GHRH growth hormone releasing hormone ISO OMIM:262400 MouseDO NCBI chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712 		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 chr14:43,626,862...43,638,737
Ensembl chr14:43,626,845...43,638,753 		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 chr20:37,592,080...37,659,783
Ensembl chr20:37,544,186...37,681,725 		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 3:24,316,598...24,547,463
Ensembl chr 3:24,269,974...24,533,465 		JBrowse link
isolated growth hormone deficiency type IB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr14:43,626,862...43,638,737
Ensembl chr14:43,626,845...43,638,753 		JBrowse link
isolated growth hormone deficiency type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr 9:34,638,892...34,742,235
Ensembl chr 9:34,641,601...34,738,352 		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:74,912,223...74,919,327 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:75,424,083...75,428,414
Ensembl chr  X:75,424,336...75,428,402 		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:75,517,183...75,521,486
Ensembl chr  X:75,517,407...75,519,218 		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:75,485,994...75,490,752
Ensembl chr  X:75,487,854...75,488,993 		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:75,394,315...75,412,888
Ensembl chr  X:75,397,802...75,405,301 		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:75,477,955...75,480,908
Ensembl chr  X:75,478,568...75,479,470 		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 OMIM
ClinVar		 PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7554467 More... NCBI chr  X:75,270,952...75,302,663
Ensembl chr  X:75,270,979...75,302,562 		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:75,035,147...75,112,991
Ensembl chr  X:75,035,141...75,211,971 		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:74,758,399...74,782,470
Ensembl chr  X:74,758,496...74,782,194 		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:75,171,816...75,217,777
Ensembl chr  X:75,171,507...75,212,782 		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:75,311,536...75,320,391
Ensembl chr  X:75,311,536...75,320,249 		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:75,320,505...75,326,651
Ensembl chr  X:75,324,481...75,325,830 		JBrowse link
G LOC100687687 60S ribosomal protein L36a-like 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 4:62,275,030...62,275,422 JBrowse link
G LOC102155800 60S ribosomal protein L36a-like 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 chr17:52,628,292...52,628,713 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:74,784,627...74,811,796
Ensembl chr  X:74,785,168...74,811,698 		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:74,179,609...74,319,138
Ensembl chr  X:74,184,772...74,317,391 		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:74,513,473...74,536,446
Ensembl chr  X:74,513,774...74,534,910 		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:74,537,937...74,617,580
Ensembl chr  X:74,539,183...74,565,753 		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:75,219,448...75,238,309
Ensembl chr  X:75,220,248...75,239,041 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A 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:75,267,437...75,270,288
Ensembl chr  X:75,267,450...75,270,288 		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:75,020,157...75,033,714
Ensembl chr  X:75,020,238...75,032,525 		JBrowse link
G TNMD tenomodulin ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:74,459,111...74,475,010
Ensembl chr  X:74,459,313...74,478,170 		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:74,921,406...75,001,373 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:74,499,684...74,510,079
Ensembl chr  X:74,499,686...74,505,683 		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:74,854,947...74,872,918
Ensembl chr  X:74,859,659...74,872,259 		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:1999489 PMID:7565946 PMID:8488849 PMID:8504296 PMID:9140387 More... NCBI chr 4:67,021,821...67,245,499
Ensembl chr 4:67,022,252...67,290,473 		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 chr34:36,691,132...36,694,304
Ensembl chr34:36,690,224...36,694,312 		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: RETINITIS PIGMENTOSA, HYPOPITUITARISM, NEPHRONOPHTHISIS, AND MILD SKELETAL DYSPLASIA | ClinVar Annotator: match by term: RHYNS syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa syndrome OMIM
ClinVar		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 More... NCBI chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559 		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 3:32,096,471...32,170,107
Ensembl chr 3:32,097,037...32,187,781 		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 3:36,362,021...36,366,326
Ensembl chr 3:36,363,930...36,365,870 		JBrowse link
G SIM1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-Yang syndrome ClinVar NCBI chr12:58,480,744...58,552,126
Ensembl chr12:58,485,823...58,553,192 		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:110,361,354...110,363,458
Ensembl chr  X:110,362,124...110,363,458 		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 OMIM
ClinVar		 PMID:15800844 PMID:21289259 PMID:25741868 PMID:28492532 NCBI chr  X:110,361,354...110,363,458
Ensembl chr  X:110,362,124...110,363,458 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15757
    disease of anatomical entity 15377
      endocrine system disease 6285
        pituitary gland disease 248
          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 + 14
            developmental and epileptic encephalopathy 105 1
            holoprosencephaly 9 1
            isolated growth hormone deficiency + 49
Path 2
Term Annotations click to browse term
  disease 15757
    disease of anatomical entity 15377
      nervous system disease 13506
        central nervous system disease 12077
          brain disease 11341
            hypothalamic disease 483
              pituitary gland disease 248
                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 + 14
                  developmental and epileptic encephalopathy 105 1
                  holoprosencephaly 9 1
                  isolated growth hormone deficiency + 49
paths to the root