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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:Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.
Synonyms:exact_synonym: Adenohypophyseal Hyposecretion;   Anterior Pituitary Hyposecretion Syndrome;   pituitary hormone deficiency;   pituitary hypofunction;   pituitary insufficiency
 primary_id: MESH:D007018
 xref: GARD:2917;   NCI:C62591;   ORDO:95494
For additional species annotation, visit the Alliance of Genome Resources.


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 chr19:46,667,165...46,673,000
Ensembl chr19:46,667,165...46,673,172
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12970278 NCBI chr 9:54,165,937...54,268,164
Ensembl chr 9:54,165,937...54,268,110
JBrowse link
G Hesx1 homeobox gene expressed in ES cells IEA OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr14:26,994,419...27,002,329
Ensembl chr14:26,994,416...27,002,329
JBrowse link
G Lhx3 LIM homeobox protein 3 IEA
ISS
OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr 2:26,200,212...26,208,249
Ensembl chr 2:26,200,212...26,208,289
JBrowse link
G Lhx4 LIM homeobox protein 4 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr 1:155,698,031...155,751,726
Ensembl chr 1:155,698,031...155,751,684
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:21107737 RGD:10449406 NCBI chr 4:148,039,077...148,059,562
Ensembl chr 4:148,039,077...148,059,551
JBrowse link
G Otx2 orthodenticle homeobox 2 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr14:48,656,781...48,667,644
Ensembl chr14:48,657,677...48,673,819
JBrowse link
G Pou1f1 POU domain, class 1, transcription factor 1 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr16:65,520,512...65,535,018
Ensembl chr16:65,520,511...65,535,005
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1304515 NCBI chr13:27,057,570...27,065,204
Ensembl chr13:27,057,570...27,065,205
JBrowse link
G Prop1 paired like homeodomain factor 1 ISO
ISS
IEA
combined pituitary hormone deficiency,OMIM:262600;DNA:point mutation:exon:R120C
OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986
MouseDO PMID:9768691 RGD:1601503 NCBI chr11:50,950,806...50,953,757
Ensembl chr11:50,950,806...50,953,765
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3, neutral IEA OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr 8:106,252,548...106,337,965
Ensembl chr 8:106,252,548...106,337,988
JBrowse link
G Sox3 SRY (sex determining region Y)-box 3 IMP RGD PMID:14981518 RGD:1300422 NCBI chr  X:60,891,366...60,893,430
Ensembl chr  X:60,891,366...60,893,430
JBrowse link
adrenocorticotropic hormone deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinal pigment epithelium 65 ISO ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency ClinVar PMID:9326941 PMID:9501220 PMID:9843205 PMID:18632300 PMID:25741868 PMID:28492532 PMID:30576320 PMID:31273949 NCBI chr 3:159,599,075...159,625,307
Ensembl chr 3:159,599,175...159,625,321
JBrowse link
G Tbx19 T-box 19 ISO
IEA
ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency
OMIM:201400
ClinVar Annotator: match by OMIM:201400
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:2830787 PMID:11290323 PMID:12651888 PMID:15476446 PMID:16390921 PMID:17652218 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 1:165,137,834...165,160,773
Ensembl chr 1:165,137,855...165,160,773
JBrowse link
Alazami Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Larp7 La ribonucleoprotein domain family, member 7 ISO ClinVar Annotator: match by term: Alazami syndrome
ClinVar Annotator: match by OMIM:615071
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:22865833 PMID:25741868 PMID:30006060 PMID:32860008 NCBI chr 3:127,536,714...127,553,349
Ensembl chr 3:127,536,714...127,553,349
JBrowse link
G Mir302d microRNA 302d ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 3:127,545,624...127,545,689
Ensembl chr 3:127,545,624...127,545,689
JBrowse link
G Mir367 microRNA 367 ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 3:127,545,733...127,545,807
Ensembl chr 3:127,545,733...127,545,807
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 isoleucine-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia OMIM
ClinVar
PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 PMID:30041933 PMID:30419932 NCBI chr 1:185,286,642...185,329,419
Ensembl chr 1:185,284,726...185,329,396
JBrowse link
Combined Pituitary Hormone Deficiency, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd6 acyl-Coenzyme A binding domain containing 6 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1 ClinVar NCBI chr 1:155,558,099...155,687,474
Ensembl chr 1:155,558,120...155,691,330
JBrowse link
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:26467025 NCBI chr16:65,539,128...65,562,762
Ensembl chr16:65,539,128...65,562,726
JBrowse link
G Hesx1 homeobox gene expressed in ES cells 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 NCBI chr14:26,994,419...27,002,329
Ensembl chr14:26,994,416...27,002,329
JBrowse link
G Lhx3 LIM homeobox protein 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1
ClinVar PMID:28492532 NCBI chr 2:26,200,212...26,208,249
Ensembl chr 2:26,200,212...26,208,289
JBrowse link
G Lhx4 LIM homeobox protein 4 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1 ClinVar NCBI chr 1:155,698,031...155,751,726
Ensembl chr 1:155,698,031...155,751,684
JBrowse link
G Pou1f1 POU domain, class 1, transcription factor 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1
ClinVar Annotator: match by OMIM:613038
OMIM
ClinVar
PMID:1271194 PMID:1302000 PMID:1472057 PMID:1509262 PMID:1509263 PMID:2634610 PMID:7670563 PMID:7721104 PMID:7833912 PMID:8768831 PMID:9392392 PMID:9588494 PMID:9626142 PMID:11222742 PMID:11297581 PMID:11924936 PMID:12629113 PMID:15928241 PMID:16968807 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:65,520,512...65,535,018
Ensembl chr16:65,520,511...65,535,005
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:26467025 PMID:28492532 NCBI chr16:65,539,128...65,562,762
Ensembl chr16:65,539,128...65,562,726
JBrowse link
G Lhx3 LIM homeobox protein 3 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chr 2:26,200,212...26,208,249
Ensembl chr 2:26,200,212...26,208,289
JBrowse link
G Pou1f1 POU domain, class 1, transcription factor 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:65,520,512...65,535,018
Ensembl chr16:65,520,511...65,535,005
JBrowse link
G Prop1 paired like homeodomain factor 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 2
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive
ClinVar Annotator: match by OMIM:262600
OMIM
ClinVar
PMID:9462743 PMID:9661653 PMID:9745452 PMID:9768691 PMID:9824293 PMID:10323394 PMID:10599689 PMID:10946881 PMID:11134108 PMID:11549674 PMID:11549703 PMID:12153609 PMID:12519826 PMID:12859410 PMID:14614227 PMID:15126542 PMID:15472232 PMID:15531542 PMID:15670191 PMID:15941866 PMID:15963055 PMID:16131601 PMID:16544023 PMID:16735499 PMID:16984240 PMID:17526936 PMID:17526949 PMID:18157385 PMID:19128366 PMID:20381582 PMID:20981092 PMID:21132537 PMID:21863341 PMID:22024773 PMID:22111336 PMID:23624138 PMID:24033266 PMID:25557026 PMID:25741868 PMID:26467025 PMID:26608600 PMID:26886902 PMID:28492532 PMID:28734020 PMID:30266296 NCBI chr11:50,950,806...50,953,757
Ensembl chr11:50,950,806...50,953,765
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 protein 3 ISO ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 3
ClinVar Annotator: match by OMIM:221750
OMIM
ClinVar
PMID:10835633 PMID:12780757 PMID:16394081 PMID:16940453 PMID:17327381 PMID:17438671 PMID:18407919 PMID:19837867 PMID:25741868 PMID:28492532 NCBI chr 2:26,200,212...26,208,249
Ensembl chr 2:26,200,212...26,208,289
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-Coenzyme A binding domain containing 6 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 4
ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects
ClinVar PMID:11567216 PMID:17201807 PMID:17527005 PMID:18445675 PMID:20534763 PMID:23990694 PMID:24033266 PMID:25741868 PMID:25910213 PMID:28492532 NCBI chr 1:155,558,099...155,687,474
Ensembl chr 1:155,558,120...155,691,330
JBrowse link
G Lhx4 LIM homeobox protein 4 ISO ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 4
ClinVar Annotator: match by OMIM:262700
OMIM
ClinVar
PMID:11567216 PMID:17201807 PMID:17527005 PMID:18445675 PMID:20534763 PMID:23029363 PMID:23990694 PMID:24033266 PMID:25741868 PMID:25910213 PMID:28492532 NCBI chr 1:155,698,031...155,751,726
Ensembl chr 1:155,698,031...155,751,684
JBrowse link
Combined Pituitary Hormone Deficiency, 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hesx1 homeobox gene expressed in ES cells ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Growth hormone deficiency with pituitary anomalies
ClinVar
CTD
PMID:11136712 PMID:14561704 PMID:16940453 PMID:17148560 NCBI chr14:26,994,419...27,002,329
Ensembl chr14:26,994,416...27,002,329
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-Coenzyme A binding domain containing 6 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:28492532 NCBI chr 1:155,558,099...155,687,474
Ensembl chr 1:155,558,120...155,691,330
JBrowse link
G Lhx4 LIM homeobox protein 4 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:28492532 NCBI chr 1:155,698,031...155,751,726
Ensembl chr 1:155,698,031...155,751,684
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 6
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant
ClinVar Annotator: match by OMIM:613986
OMIM
ClinVar
PMID:17541950 PMID:18728160 PMID:22715480 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr14:48,656,781...48,667,644
Ensembl chr14:48,657,677...48,673,819
JBrowse link
Culler-Jones syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI-Kruppel family member GLI2 ISO ClinVar Annotator: match by term: Culler-Jones syndrome
ClinVar Annotator: match by term: PALLISTER-HALL SYNDROME 2
OMIM
ClinVar
PMID:6726521 PMID:15994174 PMID:20685856 PMID:22967285 PMID:25741868 PMID:31292255 NCBI chr 1:118,834,061...119,054,405
Ensembl chr 1:118,834,132...119,053,619
JBrowse link
holoprosencephaly 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI-Kruppel family member GLI2 ISO ClinVar Annotator: match by term: Holoprosencephaly 9
ClinVar Annotator: match by OMIM:610829
OMIM
ClinVar
PMID:1756909 PMID:10725236 PMID:14581620 PMID:15994174 PMID:16327884 PMID:17096318 PMID:17569090 PMID:19223936 PMID:20685056 PMID:20685856 PMID:21204792 PMID:21416594 PMID:22967285 PMID:22978696 PMID:23408573 PMID:24744436 PMID:25741868 PMID:26893459 PMID:28492532 PMID:29876959 PMID:30548673 NCBI chr 1:118,834,061...119,054,405
Ensembl chr 1:118,834,132...119,053,619
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: Short stature, idiopathic, autosomal
ClinVar Annotator: match by OMIM:604271
OMIM
ClinVar
PMID:7565946 PMID:8504296 PMID:9140387 PMID:9814495 PMID:10984309 PMID:12217488 PMID:17274879 PMID:17462934 PMID:21525302 PMID:21846964 PMID:21900382 PMID:24150201 PMID:25741868 PMID:26467025 PMID:27408750 PMID:28492532 PMID:28498917 NCBI chr15:3,317,755...3,583,352
Ensembl chr15:3,317,760...3,583,492
JBrowse link
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar NCBI chr 3:27,371,351...27,379,235
Ensembl chr 3:27,371,351...27,378,010
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 chr17:24,877,844...24,882,011
Ensembl chr17:24,865,997...24,882,010
JBrowse link
G LOC107963953 Ghr upstream L2 promoter region ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar PMID:25741868 NCBI chr15:3,583,088...3,584,561 JBrowse link
G Spag17 sperm associated antigen 17 ISO DNA:snp:enhancer:C>G (rs17038182) (human) RGD PMID:19893584 RGD:11535959 NCBI chr 3:99,885,417...100,143,322
Ensembl chr 3:99,885,406...100,143,322
JBrowse link
isolated growth hormone deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar NCBI chr10:53,273,441...53,379,883
Ensembl chr10:53,273,443...53,379,947
JBrowse link
G Gh growth hormone ISO DNA:deletions: :
ClinVar Annotator: match by term: Growth hormone deficiency
ClinVar PMID:9152628 PMID:12655556 PMID:12655557 PMID:13572267 PMID:15001589 PMID:16741161 PMID:17223997 PMID:18160466 PMID:18473352 PMID:18785993 PMID:18950677 PMID:23182822 PMID:24635352 PMID:25741868 PMID:26467025 PMID:28492532, PMID:27114065, PMID:2752987 RGD:12904703, RGD:1578505 NCBI chr11:106,300,261...106,303,703
Ensembl chr11:106,300,271...106,301,865
JBrowse link
G Ghr growth hormone receptor ISO Laron syndrome,OMIM:262500;DNA:deletion RGD PMID:2813379 RGD:1601315 NCBI chr15:3,317,755...3,583,352
Ensembl chr15:3,317,760...3,583,492
JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO isolated growth hormone deficiency IB,OMIM:262400;DNA:point mutation:exon:E72X
ClinVar Annotator: match by term: Isolated growth hormone deficiency
DNA:deletion
ClinVar PMID:8528260, PMID:9845677 RGD:1601337, RGD:1601338 NCBI chr 6:55,376,295...55,388,530
Ensembl chr 6:55,376,295...55,388,530
JBrowse link
G Ghsr growth hormone secretagogue receptor ISO mRNA:increased expression:pituitary: RGD PMID:9822798 RGD:12904721 NCBI chr 3:27,371,351...27,379,235
Ensembl chr 3:27,371,351...27,378,010
JBrowse link
G Hpca hippocalcin IEP protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) RGD PMID:7882001 RGD:9693682 NCBI chr 4:129,111,570...129,125,919
Ensembl chr 4:129,111,570...129,122,036
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO protein:decreased expression:serum RGD PMID:11248743 RGD:12910859 NCBI chr17:24,877,844...24,882,011
Ensembl chr17:24,865,997...24,882,010
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar NCBI chr10:53,337,686...53,345,999
Ensembl chr10:53,337,667...53,345,987
JBrowse link
G Pou1f1 POU domain, class 1, transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9392392 NCBI chr16:65,520,512...65,535,018
Ensembl chr16:65,520,511...65,535,005
JBrowse link
G Tg thyroglobulin ISO RGD PMID:11089535, PMID:3366187 RGD:730133, RGD:12880373 NCBI chr15:66,670,754...66,850,721
Ensembl chr15:66,670,753...66,850,721
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 breast cancer 2, early onset ISO ClinVar Annotator: match by term: Primordial dwarfism ClinVar PMID:24389050 PMID:25558065 NCBI chr 5:150,522,297...150,570,147
Ensembl chr 5:150,522,630...150,570,329
JBrowse link
G Cript cysteine-rich PDZ-binding protein ISO ClinVar Annotator: match by synonym: Primordial Dwarfism
ClinVar Annotator: match by term: Primordial Dwarfism
ClinVar PMID:24389050 PMID:25558065 NCBI chr17:87,025,561...87,035,808
Ensembl chr17:87,025,550...87,035,810
JBrowse link
G Dna2 DNA replication helicase/nuclease 2 ISO DNA:mutation:cds:
ClinVar Annotator: match by term: Primordial dwarfism
ClinVar PMID:24389050 PMID:25558065, PMID:24389050 RGD:8694132 NCBI chr10:62,946,983...62,974,188
Ensembl chr10:62,947,026...62,974,185
JBrowse link
G Gh growth hormone ISO ClinVar Annotator: match by term: Pituitary dwarfism 1
ClinVar Annotator: match by term: PITUITARY DWARFISM I
ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B
DNA:deletion: :
OMIM
ClinVar
PMID:2347891 PMID:8364549 PMID:8496314 PMID:9152628 PMID:12655557 PMID:15001589 PMID:18160466 PMID:18950677 PMID:25741868 PMID:26467025 PMID:28492532, PMID:14594175 RGD:12904729 NCBI chr11:106,300,261...106,303,703
Ensembl chr11:106,300,271...106,301,865
JBrowse link
G Ghrh growth hormone releasing hormone IEA OMIM:262400 MouseDO NCBI chr 2:157,329,496...157,348,725
Ensembl chr 2:157,329,497...157,347,506
JBrowse link
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Primordial dwarfism ClinVar PMID:22840364 PMID:25558065 PMID:25741868 NCBI chr 9:106,279,443...106,350,522
Ensembl chr 9:106,281,061...106,350,521
JBrowse link
G Xrcc4 X-ray repair complementing defective repair in Chinese hamster cells 4 ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 PMID:25728776 PMID:25741868 PMID:26255102 NCBI chr13:89,848,914...90,089,608
Ensembl chr13:89,774,027...90,089,608
JBrowse link
isolated growth hormone deficiency type IB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh growth hormone ISO ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB
ClinVar Annotator: match by term: Isolated Growth Hormone Deficiency, Type IB
OMIM
ClinVar
PMID:8496314 PMID:9152628 PMID:10678654 PMID:10689634 PMID:12655557 PMID:15001589 PMID:18160466 PMID:18950677 PMID:24635352 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:106,300,261...106,303,703
Ensembl chr11:106,300,271...106,301,865
JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Idiopathic growth hormone deficiency
ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB
ClinVar Annotator: match by term: DWARFISM OF SINDH
ClinVar PMID:8528260 PMID:9467553 PMID:9814493 PMID:10084571 PMID:10566659 PMID:10944436 PMID:10946881 PMID:11232012 PMID:11298081 PMID:11443201 PMID:11502843 PMID:11875102 PMID:12163232 PMID:12181638 PMID:12414875 PMID:12788864 PMID:12794696 PMID:16284391 PMID:16522693 PMID:17356054 PMID:17911170 PMID:18297129 PMID:19622623 PMID:21044116 PMID:22489751 PMID:25541890 PMID:25741868 PMID:28492532 NCBI chr 6:55,376,295...55,388,530
Ensembl chr 6:55,376,295...55,388,530
JBrowse link
isolated growth hormone deficiency type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh growth hormone ISO
IEA
ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
ClinVar Annotator: match by term: IGHD II
OMIM:173100
OMIM
ClinVar
MouseDO
PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 PMID:9175738 PMID:9432120 PMID:9554464 PMID:9578959 PMID:9700205 PMID:9799079 PMID:10372722 PMID:10445339 PMID:10469016 PMID:10549303 PMID:10629163 PMID:10698162 PMID:11502827 PMID:11502836 PMID:11836331 PMID:11914025 PMID:12000366 PMID:12399418 PMID:12510984 PMID:12574219 PMID:12655557 PMID:12720086 PMID:15001589 PMID:15671105 PMID:16368751 PMID:16491012 PMID:17038549 PMID:17073157 PMID:17178704 PMID:17336732 PMID:17360215 PMID:17726075 PMID:17785368 PMID:18160466 PMID:18473352 PMID:18554279 PMID:18785993 PMID:18950677 PMID:20351314 PMID:23736291 PMID:25741868 PMID:26467025 PMID:27253996 PMID:28492532 PMID:28626954 PMID:29739035 NCBI chr11:106,300,261...106,303,703
Ensembl chr11:106,300,271...106,301,865
JBrowse link
isolated growth hormone deficiency type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton agammaglobulinemia tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
ClinVar Annotator: match by term: IGHD III
ClinVar Annotator: match by OMIM:307200
OMIM
ClinVar
PMID:3486747 PMID:7633420 PMID:7633429 PMID:7678697 PMID:7711734 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8013627 PMID:8090769 PMID:8162018 PMID:8162056 PMID:8332900 PMID:8332901 PMID:8380905 PMID:8562928 PMID:8594569 PMID:8644706 PMID:8695804 PMID:8723128 PMID:8834236 PMID:8938104 PMID:8939985 PMID:9106525 PMID:9143921 PMID:9188445 PMID:9192269 PMID:9260159 PMID:9445504 PMID:9486400 PMID:9524120 PMID:9536098 PMID:9545398 PMID:9880544 PMID:10092645 PMID:10373551 PMID:10737994 PMID:10844531 PMID:10859027 PMID:11206059 PMID:11410123 PMID:11438999 PMID:11445810 PMID:11472359 PMID:11527964 PMID:11668622 PMID:11742281 PMID:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:14974089 PMID:15112668 PMID:15661032 PMID:16159644 PMID:16199547 PMID:16297664 PMID:16712653 PMID:16862044 PMID:16943681 PMID:16951917 PMID:17045652 PMID:17327079 PMID:17576681 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19904586 PMID:20529312 PMID:21039741 PMID:21520333 PMID:23335184 PMID:23424595 PMID:24001798 PMID:24033266 PMID:24586880 PMID:24869598 PMID:24885015 PMID:25082755 PMID:25189416 PMID:25270678 PMID:25741868 PMID:25777788 PMID:26915675 PMID:26931785 PMID:27199251 PMID:27512878 PMID:27577878 PMID:27593100 PMID:27980540 PMID:28049639 PMID:28212557 PMID:28359783 PMID:28398200 PMID:28418267 PMID:28492532 PMID:29424453 PMID:29496671 PMID:29503650 PMID:29875397 PMID:30018078 PMID:30072168 PMID:30290665 PMID:30311057 PMID:30564228 NCBI chr  X:134,542,334...134,583,628
Ensembl chr  X:134,542,336...134,583,570
JBrowse link
Isolated Growth Hormone Deficiency Type V 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 V ClinVar
OMIM
PMID:24480542 PMID:29255062 NCBI chr 3:113,605,067...113,630,149
Ensembl chr 3:113,605,067...113,630,149
JBrowse link
Isolated Growth Hormone Deficiency, Partial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency ClinVar
OMIM
PMID:16511605 PMID:19789204 PMID:25741868 PMID:26094658 PMID:28492532 NCBI chr 3:27,371,351...27,379,235
Ensembl chr 3:27,371,351...27,378,010
JBrowse link
Kowarski Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gh growth hormone ISO DNA:point mutation:exon:p.D122G (human)
ClinVar Annotator: match by term: Kowarski syndrome
ClinVar
OMIM
PMID:8552145 PMID:9152628 PMID:9276733 PMID:12655557 PMID:15001589 PMID:15713716 PMID:17519310 PMID:18160466 PMID:18950677 PMID:26467025 PMID:28492532, PMID:9276733 RGD:1601313 NCBI chr11:106,300,261...106,303,703
Ensembl chr11:106,300,271...106,301,865
JBrowse link
panhypopituitarism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhx3 LIM homeobox protein 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined ClinVar PMID:16940453 PMID:25741868 PMID:28492532 NCBI chr 2:26,200,212...26,208,249
Ensembl chr 2:26,200,212...26,208,289
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:48,656,781...48,667,644
Ensembl chr14:48,657,677...48,673,819
JBrowse link
G Pou1f1 POU domain, class 1, transcription factor 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined ClinVar PMID:28492532 NCBI chr16:65,520,512...65,535,018
Ensembl chr16:65,520,511...65,535,005
JBrowse link
G Prop1 paired like homeodomain factor 1 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined
ClinVar PMID:15963055 PMID:18157385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:50,950,806...50,953,757
Ensembl chr11:50,950,806...50,953,765
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Panhypopituitarism ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
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
ClinVar PMID:9375913 PMID:17377820 PMID:17397051 PMID:18327255 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:28492532 PMID:29891882 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020
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 7:55,842,022...55,932,633
Ensembl chr 7:55,841,745...55,932,602
JBrowse link
G Magel2 MAGE family member L2 ISO ClinVar Annotator: match by term: Schaaf-Yang syndrome
ClinVar Annotator: match by term: Schaaf-yang syndrome
ClinVar Annotator: match by OMIM:615547
OMIM
ClinVar
PMID:24076603 PMID:24088041 PMID:25326635 PMID:25473036 PMID:25741868 PMID:26365340 PMID:26633545 PMID:27195816 PMID:27632685 PMID:28281571 PMID:28492532 PMID:29581464 PMID:29599419 PMID:31397880 PMID:31680349 PMID:32860008 NCBI chr 7:62,376,979...62,381,640
Ensembl chr 7:62,377,010...62,381,640
JBrowse link
G Sim1 single-minded family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-yang syndrome ClinVar NCBI chr10:50,894,698...50,989,156
Ensembl chr10:50,894,754...50,989,152
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 (sex determining region Y)-box 3 ISO ClinVar Annotator: match by null
DNA:duplication:cds:c.712_744dup (human)
ClinVar PMID:8826446 PMID:12428212, PMID:12428212 RGD:11535974 NCBI chr  X:60,891,366...60,893,430
Ensembl chr  X:60,891,366...60,893,430
JBrowse link
X-Linked Mental Retardation with Panhypopituitarism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox3 SRY (sex determining region Y)-box 3 ISO ClinVar Annotator: match by term: Mental retardation with panhypopituitarism, X-linked OMIM
ClinVar
PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:60,891,366...60,893,430
Ensembl chr  X:60,891,366...60,893,430
JBrowse link
X-linked panhypopituitarism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox3 SRY (sex determining region Y)-box 3 ISO ClinVar Annotator: match by null OMIM
ClinVar
PMID:15800844 NCBI chr  X:60,891,366...60,893,430
Ensembl chr  X:60,891,366...60,893,430
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14453
    disease of anatomical entity 14044
      endocrine system disease 5360
        pituitary gland disease 147
          hypopituitarism 45
            Combined Pituitary Hormone Deficiency, 5 1
            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
            holoprosencephaly 9 1
            isolated growth hormone deficiency + 30
            panhypopituitarism + 10
Path 2
Term Annotations click to browse term
  disease 14453
    disease of anatomical entity 14044
      nervous system disease 11602
        central nervous system disease 10117
          brain disease 9498
            thalamic disease 201
              hypothalamic disease 201
                pituitary gland disease 147
                  hypopituitarism 45
                    Combined Pituitary Hormone Deficiency, 5 1
                    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
                    holoprosencephaly 9 1
                    isolated growth hormone deficiency + 30
                    panhypopituitarism + 10
paths to the root