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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 chr 1:266,422,127...266,429,947
Ensembl chr 1:266,422,132...266,428,239
JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12970278 NCBI chr 8:58,744,849...58,772,408
Ensembl chr 8:58,744,849...58,772,408
JBrowse link
G Hesx1 HESX homeobox 1 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr16:2,616,538...2,636,708
Ensembl chr16:2,634,603...2,636,708
JBrowse link
G Lhx3 LIM homeobox 3 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
JBrowse link
G Lhx4 LIM homeobox 4 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:21107737 RGD:10449406 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Otx2 orthodenticle homeobox 2 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1304515 NCBI chr17:39,814,236...39,824,299
Ensembl chr17:39,814,244...39,824,299
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 PMID:9768691 RGD:1601503 NCBI chr10:36,449,920...36,452,381
Ensembl chr10:36,449,920...36,452,378
JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISS OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986 MouseDO NCBI chr19:38,237,963...38,321,572
Ensembl chr19:38,237,965...38,321,528
JBrowse link
G Sox3 SRY-box transcription factor 3 ISO RGD PMID:14981518 RGD:1300422 NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
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: Adrenocorticotropic hormone deficiency ClinVar PMID:25741868, PMID:30576320 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
G Tbx19 T-box transcription factor 19 ISO ClinVar Annotator: match by term: Adrenocorticotropic hormone deficiency
ClinVar Annotator: match by OMIM:201400
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2830787, PMID:11290323, PMID:12651888, PMID:15476446, PMID:16390921, PMID:17652218, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr13:83,403,263...83,426,305
Ensembl chr13:83,403,264...83,425,641
JBrowse link
Alazami Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Larp7 La ribonucleoprotein 7, transcriptional regulator 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:30311386, PMID:32860008 NCBI chr 2:231,866,888...231,882,002
Ensembl chr 2:231,867,135...231,881,939
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 OMIM
ClinVar
PMID:8409271, PMID:25130867, PMID:25741868, PMID:28328135, PMID:28492532, PMID:30041933, PMID:30419932 NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906
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-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1 ClinVar NCBI chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
JBrowse link
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 ClinVar PMID:26467025 NCBI chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
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 NCBI chr16:2,616,538...2,636,708
Ensembl chr16:2,634,603...2,636,708
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1 ClinVar NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 1 ClinVar NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
JBrowse link
G Pou1f1 POU class 1 homeobox 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 chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
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 chr11:2,666,405...2,692,213
Ensembl chr11:2,665,285...2,692,198
JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chr 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
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 NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link
G Prop1 PROP paired-like homeobox 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:9768691, PMID:9824293, PMID:10323394, PMID:10599689, PMID:10946881, PMID:11134108, PMID:11549674, PMID:11549703, PMID:12153609, PMID:12519826, 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:24033266, PMID:25557026, PMID:25741868, PMID:26147833, PMID:26467025, PMID:26608600, PMID:26886902, PMID:28492532, PMID:28734020, PMID:30266296, PMID:30311386 NCBI chr10:36,449,920...36,452,381
Ensembl chr10:36,449,920...36,452,378
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 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 3:3,653,861...3,662,509
Ensembl chr 3:3,654,755...3,661,810
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: 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 chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
JBrowse link
G Lhx4 LIM homeobox 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 chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
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: 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 chr16:2,616,538...2,636,708
Ensembl chr16:2,634,603...2,636,708
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 chr13:73,196,504...73,334,077
Ensembl chr13:73,196,571...73,334,077
JBrowse link
G Lhx4 LIM homeobox 4 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant ClinVar PMID:28492532 NCBI chr13:73,348,874...73,400,416
Ensembl chr13:73,348,842...73,400,416
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by OMIM:613986
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 6
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Dominant
ClinVar
OMIM
PMID:17541950, PMID:18728160, PMID:22715480, PMID:28492532 NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
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: PALLISTER-HALL SYNDROME 2
OMIM
ClinVar
PMID:6726521, PMID:15994174, PMID:20685856, PMID:22967285, PMID:25741868, PMID:31292255 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
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: Holoprosencephaly 9
ClinVar Annotator: match by OMIM:610829
OMIM
ClinVar
PMID:1756909, 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:30311386, PMID:30548673 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
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:12217488, PMID:17274879, PMID:17462934, PMID:21525302, PMID:21846964, PMID:21900382, PMID:24150201, PMID:25741868, PMID:26467025, PMID:27408750, PMID:28492532, PMID:28498917 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
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 chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Spag17 sperm associated antigen 17 ISO DNA:snp:enhancer:C>G (rs17038182) (human) RGD PMID:19893584 RGD:11535959 NCBI chr 2:202,159,659...202,452,361
Ensembl chr 2:202,200,797...202,443,026
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 chr20:34,574,043...34,743,142
Ensembl chr20:34,575,950...34,684,418
JBrowse link
G Gh1 growth hormone 1 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 RGD:12904703 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghr growth hormone receptor ISO Laron syndrome,OMIM:262500;DNA:deletion RGD PMID:2813379 RGD:1601315 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
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 growth hormone deficiency
DNA:deletion
ClinVar PMID:8528260, PMID:9845677 RGD:1601337, RGD:1601338 NCBI chr 4:85,587,321...85,602,389
Ensembl chr 4:85,588,595...85,601,666
JBrowse link
G Ghsr growth hormone secretagogue receptor IEP mRNA:increased expression:pituitary: RGD PMID:9822798 RGD:12904721 NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
JBrowse link
G Hpca hippocalcin ISO protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) RGD PMID:7882001 RGD:9693682 NCBI chr 5:147,295,124...147,305,757
Ensembl chr 5:147,294,820...147,303,346
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO protein:decreased expression:serum RGD PMID:11248743 RGD:12910859 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar NCBI chr20:34,633,157...34,642,904
Ensembl chr20:34,633,157...34,642,904
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9392392 NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link
G Tg thyroglobulin IAGP RGD PMID:11089535, PMID:3366187 RGD:730133, RGD:12880373 NCBI chr 7:107,467,260...107,652,897
Ensembl chr 7:107,467,260...107,652,899
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: Primordial dwarfism ClinVar PMID:24389050, PMID:25558065 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Cript CXXC repeat containing interactor of PDZ3 domain ISO ClinVar Annotator: match by synonym: Primordial Dwarfism
ClinVar Annotator: match by term: Primordial Dwarfism
ClinVar PMID:24389050, PMID:25558065 NCBI chr 6:10,594,147...10,602,103
Ensembl chr 6:10,594,122...10,602,085
JBrowse link
G Dna2 DNA replication helicase/nuclease 2 ISO DNA:mutation:cds: RGD PMID:24389050 RGD:8694132
G Gh1 growth hormone 1 ISO ClinVar Annotator: match by OMIM:262400
ClinVar Annotator: match by term: Pituitary dwarfism 1
ClinVar Annotator: match by term: PITUITARY DWARFISM I
DNA:deletion: :
ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B
ClinVar
OMIM
PMID:2347891, PMID:8364549, PMID:8496314, PMID:9152628, PMID:10678654, PMID:10689634, PMID:12655557, PMID:15001589, PMID:18160466, PMID:18950677, PMID:25741868, PMID:26467025, PMID:28492532, PMID:14594175 RGD:12904729 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghrh growth hormone releasing hormone ISS OMIM:262400 MouseDO NCBI chr 3:153,449,124...153,468,794
Ensembl chr 3:153,449,125...153,468,794
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, PMID:12181638, PMID:12414875, PMID:16284391, PMID:18297129, PMID:19622623, PMID:21044116, PMID:22489751, PMID:25541890, PMID:28492532 NCBI chr 4:85,587,321...85,602,389
Ensembl chr 4:85,588,595...85,601,666
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 8:114,982,764...115,050,844
Ensembl chr 8:114,986,326...115,050,728
JBrowse link
G Xrcc4 X-ray repair cross complementing 4 ISO ClinVar Annotator: match by term: PITUITARY DWARFISM I ClinVar PMID:24389050, PMID:25558065, PMID:25728776, PMID:26255102 NCBI chr 2:18,674,496...18,927,463
Ensembl chr 2:18,677,220...18,927,365
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: Isolated Growth Hormone Deficiency, Type IB OMIM
ClinVar
PMID:9152628, PMID:12655557, PMID:15001589, PMID:18160466, PMID:18950677, PMID:26467025, PMID:28492532 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Idiopathic growth hormone deficiency
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 NCBI chr 4:85,587,321...85,602,389
Ensembl chr 4:85,588,595...85,601,666
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 ClinVar Annotator: match by OMIM:173100
ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
ClinVar Annotator: match by term: IGHD II
ClinVar
OMIM
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:26467025, PMID:27253996, PMID:28492532, PMID:28626954, PMID:29739035 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
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 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:9524120, 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:15661032, PMID:16159644, PMID:16297664, PMID:16712653, PMID:16862044, PMID:16943681, PMID:16951917, PMID:17045652, PMID:17327079, 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: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:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580
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 2:216,481,457...216,510,051
Ensembl chr 2:216,481,436...216,509,827
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:21646290, PMID:25741868, PMID:26094658, PMID:27023906, PMID:28492532 NCBI chr 2:113,065,953...113,071,265
Ensembl chr 2:113,066,885...113,070,261
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: Kowarski syndrome
ClinVar Annotator: match by OMIM:262650
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 chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
Mental Retardation, X-Linked, 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 ClinVar Annotator: match by term: Mental retardation, X-linked, with isolated growth hormone deficiency
DNA:duplication:cds:c.712_744dup (human)
ClinVar PMID:8826446, PMID:12428212, PMID:12428212 RGD:11535974 NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
JBrowse link
panhypopituitarism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Pituitary hormone deficiency, combined ClinVar PMID:28492532 NCBI chr11:2,645,659...2,662,581
Ensembl chr11:2,645,865...2,662,579
JBrowse link
G Prop1 PROP paired-like homeobox 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:26467025, PMID:28492532 NCBI chr10:36,449,920...36,452,381
Ensembl chr10:36,449,920...36,452,378
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:19508969, PMID:21866095, PMID:23559409, PMID:25741868, PMID:25920555, PMID:26092869, PMID:28492532, PMID:29891882, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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 1:114,258,773...114,347,138
Ensembl chr 1:114,258,719...114,347,137
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:8424017, PMID:11891783, PMID:17728320, PMID:19066619, PMID:19172181, PMID:21248145, PMID:24076603, PMID:24088041, PMID:24661356, PMID:25326635, PMID:25473036, PMID:25741868, PMID:26365340, PMID:26633545, PMID:27195816, PMID:28281571, PMID:29599419, PMID:31397880, PMID:31680349, PMID:32860008 NCBI chr 1:123,015,404...123,019,945
Ensembl chr 1:123,015,746...123,019,522
JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Schaaf-yang syndrome ClinVar NCBI chr20:55,590,810...55,674,002
Ensembl chr20:55,594,676...55,673,995
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-box transcription factor 3 ISO ClinVar Annotator: match by term: Mental retardation with panhypopituitarism, X-linked OMIM
ClinVar
PMID:23757202, PMID:25741868, PMID:28492532 NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
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 OMIM:312000 OMIM
ClinVar
PMID:15800844 NCBI chr  X:144,035,162...144,037,364
Ensembl chr  X:144,035,883...144,037,294
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 4997
        pituitary gland disease 167
          hypopituitarism 44
            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 + 9
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            thalamic disease 213
              hypothalamic disease 213
                pituitary gland disease 167
                  hypopituitarism 44
                    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 + 9
paths to the root

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