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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:isolated growth hormone deficiency
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Accession:DOID:0060870 term browser browse the term
Definition:A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. (DO)
Synonyms:exact_synonym: Growth Hormone Deficiency Dwarfism;   Hypophysial Dwarf;   Hyposomatotrophic Dwarfism;   IGHD;   Isolated GH Deficiency;   Isolated HGH Deficiency;   Isolated Human Growth Hormone Deficiency;   Isolated Somatotropin Deficiency;   Isolated Somatotropin Deficiency Disorder;   Pituitary Dwarf;   congenital IGHD;   congenital isolated GH deficiency;   congenital isolated growth hormone deficiency;   familial isolated growth hormone deficiency;   non-acquired isolated growth hormone deficiency;   pituitary dwarfism;   pituitary nanism
 broad_synonym: GROWTH HORMONE DEFICIENCY
 primary_id: MESH:D004393
 alt_id: OMIA:000307
 xref: EFO:1001109;   GARD:12556;   ICD9CM:253.3;   NCI:C34555;   OMIM:PS262400;   ORDO:631


show annotations for term's descendants           Sort by:
isolated growth hormone deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotective protein ISO ClinVar Annotator: match by term: Growth hormone deficiency ClinVar PMID:24531329 PMID:25741868 PMID:27031564 PMID:28135719 PMID:28221363 More... NCBI chr 2:168,022,885...168,049,032
Ensembl chr 2:168,022,906...168,049,032 		JBrowse link
G Gh growth hormone ISO DNA:deletions: :
ClinVar Annotator: match by term: Growth hormone deficiency | ClinVar Annotator: match by term: Isolated congenital growth hormone deficiency		 ClinVar
RGD		 PMID:9152628 PMID:12655556 PMID:12655557 PMID:13572267 PMID:15001589 More... RGD:12904703, RGD:1578505 NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691 		JBrowse link
G Ghr growth hormone receptor ISO Laron syndrome,OMIM:262500;DNA:deletion RGD PMID:2813379 RGD:1601315 NCBI chr15:3,347,237...3,612,834
Ensembl chr15:3,347,242...3,612,974 		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 congenital growth hormone deficiency
DNA:deletion		 ClinVar
RGD		 PMID:8528260 PMID:9845677 RGD:1601337, RGD:1601338 NCBI chr 6:55,353,204...55,365,515
Ensembl chr 6:55,353,280...55,365,515 		JBrowse link
G Ghsr growth hormone secretagogue receptor ISO mRNA:increased expression:pituitary: RGD PMID:9822798 RGD:12904721 NCBI chr 3:27,425,500...27,433,384
Ensembl chr 3:27,425,500...27,432,159 		JBrowse link
G Hpca hippocalcin IEP protein:altered expression:cerebral cortex, cerebellum, hippocampus (mouse) RGD PMID:7882001 RGD:9693682 NCBI chr 4:129,005,363...129,019,712
Ensembl chr 4:129,005,363...129,015,829 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO protein:decreased expression:serum RGD PMID:11248743 RGD:12910859 NCBI chr17:25,096,818...25,100,985
Ensembl chr17:25,084,971...25,100,984 		JBrowse link
G Pou1f1 POU domain, class 1, transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9392392 NCBI chr16:65,317,398...65,331,904
Ensembl chr16:65,317,397...65,331,183 		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 3:113,398,716...113,423,798
Ensembl chr 3:113,398,716...113,423,798 		JBrowse link
G Tg thyroglobulin ISO RGD PMID:11089535 PMID:3366187 RGD:730133, RGD:12880373 NCBI chr15:66,542,606...66,722,570
Ensembl chr15:66,542,602...66,722,570 		JBrowse link
Alazami Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:21937992 PMID:22865833 PMID:25741868 More... NCBI chr 3:127,330,363...127,346,998
Ensembl chr 3:127,330,363...127,346,998 		JBrowse link
G Mir302d microRNA 302d ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 3:127,339,273...127,339,338
Ensembl chr 3:127,339,273...127,339,338 		JBrowse link
G Mir367 microRNA 367 ISO ClinVar Annotator: match by term: Alazami syndrome ClinVar PMID:25741868 NCBI chr 3:127,339,382...127,339,456
Ensembl chr 3:127,339,382...127,339,456 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		 OMIM
CTD
ClinVar		 PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chr 1:185,018,839...185,061,615
Ensembl chr 1:185,016,923...185,061,593 		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 chr16:65,336,014...65,359,648
Ensembl chr16:65,336,014...65,359,612 		JBrowse link
G Lhx3 LIM homeobox protein 3 ISO ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive ClinVar NCBI chr 2:26,090,224...26,098,261
Ensembl chr 2:26,090,224...26,098,301 		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 PMID:31755341 NCBI chr16:65,317,398...65,331,904
Ensembl chr16:65,317,397...65,331,183 		JBrowse link
G Prop1 paired like homeodomain factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2		 OMIM
CTD
ClinVar		 PMID:9462743 PMID:9661653 PMID:9745452 PMID:9768691 PMID:9824293 More... NCBI chr11:50,841,633...50,844,584
Ensembl chr11:50,841,633...50,844,592 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome		 OMIM
CTD
ClinVar		 PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 More... NCBI chr 2:26,090,224...26,098,261
Ensembl chr 2:26,090,224...26,098,301 		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 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:7565946 PMID:8504296 PMID:9140387 PMID:9360502 PMID:9814495 More... NCBI chr15:3,347,237...3,612,834
Ensembl chr15:3,347,242...3,612,974 		JBrowse link
G Ghsr growth hormone secretagogue receptor ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar NCBI chr 3:27,425,500...27,433,384
Ensembl chr 3:27,425,500...27,432,159 		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 chr17:25,096,818...25,100,985
Ensembl chr17:25,084,971...25,100,984 		JBrowse link
G LOC107963953 Ghr upstream L2 promoter region ISO ClinVar Annotator: match by term: Short stature, idiopathic, autosomal ClinVar PMID:25741868 NCBI chr15:3,612,570...3,614,043 JBrowse link
G Spag17 sperm associated antigen 17 ISO DNA:snp:enhancer:C>G (rs17038182) (human) RGD PMID:19893584 RGD:11535959 NCBI chr 3:99,792,653...100,050,638
Ensembl chr 3:99,792,722...100,050,638 		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: Growth hormone deficiency, isolated autosomal recessive ClinVar PMID:24389050 PMID:25558065 NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794 		JBrowse link
G Cript cysteine-rich PDZ-binding protein ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:24389050 PMID:25558065 NCBI chr17:87,332,989...87,343,236
Ensembl chr17:87,332,978...87,343,238 		JBrowse link
G Dna2 DNA replication helicase/nuclease 2 ISO DNA:mutation:cds:
ClinVar Annotator: match by term: Pituitary dwarfism 1		 ClinVar
RGD		 PMID:24389050 PMID:25558065 PMID:24389050 RGD:8694132 NCBI chr10:62,782,762...62,809,967
Ensembl chr10:62,782,805...62,809,964 		JBrowse link
G Gh growth hormone ISO ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B | ClinVar Annotator: match by term: Pituitary dwarfism 1
CTD Direct Evidence: marker/mechanism
DNA:deletion: :		 OMIM
ClinVar
CTD
RGD		 PMID:2347891 PMID:8364549 PMID:8496314 PMID:8530604 PMID:9152628 More... RGD:12904729 NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691 		JBrowse link
G Ghrh growth hormone releasing hormone IAGP OMIM:262400 MouseDO NCBI chr 2:157,171,416...157,190,645
Ensembl chr 2:157,171,417...157,189,426 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Isolated growth hormone deficiency type 1B ClinVar PMID:10944436 PMID:10946881 PMID:11298081 PMID:11502843 PMID:12163232 More... NCBI chr 6:55,353,204...55,365,515
Ensembl chr 6:55,353,280...55,365,515 		JBrowse link
G Poc1a POC1 centriolar protein A ISO ClinVar Annotator: match by term: Pituitary dwarfism 1 ClinVar PMID:22840364 PMID:25558065 PMID:25741868 PMID:26336158 PMID:26374189 More... NCBI chr 9:106,156,177...106,227,721
Ensembl chr 9:106,158,260...106,227,720 		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 chr13:89,997,033...90,237,727
Ensembl chr13:89,922,146...90,237,727 		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: IGHD IB | ClinVar Annotator: match by term: Idiopathic growth hormone deficiency | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8496314 PMID:8530604 PMID:9152628 PMID:10372722 PMID:10445339 More... NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: DWARFISM OF SINDH | ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB OMIM
ClinVar		 PMID:8528260 PMID:9467553 PMID:9814493 PMID:10084571 PMID:10566659 More... NCBI chr 6:55,353,204...55,365,515
Ensembl chr 6:55,353,280...55,365,515 		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
IAGP		 ClinVar Annotator: match by term: IGHD II | ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant
CTD Direct Evidence: marker/mechanism
OMIM:173100		 OMIM
ClinVar
CTD
MouseDO		 PMID:7567462 PMID:7714096 PMID:8530604 PMID:8923859 PMID:9152628 More... NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691 		JBrowse link
G Med13 mediator complex subunit 13 ISO ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant ClinVar PMID:25741868 NCBI chr11:86,157,859...86,248,422
Ensembl chr11:86,157,859...86,248,428 		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 ADP-ribosylation factor-like 13A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,088,250...133,108,779
Ensembl chr  X:133,088,250...133,108,777 		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:133,618,615...133,623,487
Ensembl chr  X:133,618,712...133,622,666 		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:133,704,891...133,709,970
Ensembl chr  X:133,704,894...133,709,970 		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:133,657,301...133,662,206
Ensembl chr  X:133,657,344...133,662,204 		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:133,586,399...133,598,524
Ensembl chr  X:133,587,268...133,597,506 		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:133,649,204...133,657,236
Ensembl chr  X:133,649,210...133,652,166 		JBrowse link
G Btk Bruton agammaglobulinemia tyrosine kinase ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1240516 PMID:2896233 PMID:3486747 PMID:4697357 PMID:7627183 More... NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319 		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:133,206,777...133,263,853
Ensembl chr  X:133,208,833...133,263,388 		JBrowse link
G Cstf2 cleavage stimulation factor, 3' pre-RNA subunit 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:132,959,925...132,987,571
Ensembl chr  X:132,959,936...132,987,568 		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:133,304,868...133,357,323
Ensembl chr  X:133,305,300...133,357,322 		JBrowse link
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,488,912...133,501,707
Ensembl chr  X:133,488,898...133,501,874 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,501,928...133,507,809
Ensembl chr  X:133,501,928...133,507,809 		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:132,987,170...133,038,455
Ensembl chr  X:132,987,170...133,122,705 		JBrowse link
G Nxf2 nuclear RNA export factor 2 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,845,275...133,865,503
Ensembl chr  X:133,845,275...133,865,503 		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:132,483,609...132,589,802
Ensembl chr  X:132,483,609...132,589,736 		JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,486,403...133,488,811
Ensembl chr  X:133,486,403...133,488,811 		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:132,809,155...132,833,195
Ensembl chr  X:132,809,175...132,833,195 		JBrowse link
G Sytl4 synaptotagmin-like 4 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:132,837,134...132,882,569
Ensembl chr  X:132,837,134...132,882,561 		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:133,360,865...133,377,254
Ensembl chr  X:133,360,867...133,377,239 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:7711734 PMID:9445504 PMID:9545398 PMID:11956200 PMID:21984432 More... NCBI chr  X:133,438,005...133,442,419
Ensembl chr  X:133,438,005...133,442,614 		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:133,195,974...133,206,718
Ensembl chr  X:133,195,974...133,206,718 		JBrowse link
G Tnmd tenomodulin ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:132,751,757...132,766,326
Ensembl chr  X:132,751,729...132,766,326 		JBrowse link
G Trmt2b TRM2 tRNA methyltransferase 2B ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,123,704...133,177,770
Ensembl chr  X:133,123,088...133,177,733 		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:132,791,817...132,801,957
Ensembl chr  X:132,791,817...132,799,178 		JBrowse link
G Xkrx X-linked Kx blood group related, X-linked ISO ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency ClinVar PMID:28492532 NCBI chr  X:133,049,786...133,086,747
Ensembl chr  X:133,049,792...133,062,825 		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: PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 7 OMIM
ClinVar		 PMID:24480542 PMID:25741868 PMID:29255062 PMID:32462814 PMID:33650182 NCBI chr 3:113,398,716...113,423,798
Ensembl chr 3:113,398,716...113,423,798 		JBrowse link
Isolated Growth Hormone Deficiency, Partial term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency ClinVar PMID:7565946 PMID:8504296 PMID:9140387 PMID:9360502 PMID:9814495 More... NCBI chr15:3,347,237...3,612,834
Ensembl chr15:3,347,242...3,612,974 		JBrowse link
G Ghsr growth hormone secretagogue 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 OMIM
ClinVar		 PMID:14715843 PMID:16511605 PMID:17596538 PMID:17717076 PMID:19789204 More... NCBI chr 3:27,425,500...27,433,384
Ensembl chr 3:27,425,500...27,432,159 		JBrowse link
G LOC107963953 Ghr upstream L2 promoter region ISO ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL ClinVar PMID:25741868 NCBI chr15:3,612,570...3,614,043 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)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin		 OMIM
CTD
ClinVar
RGD		 PMID:8530604 PMID:8552145 PMID:9152628 PMID:9276733 PMID:10372722 More... RGD:1601313 NCBI chr11:106,191,087...106,194,529
Ensembl chr11:106,191,097...106,192,691 		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 DNA:duplication:cds:c.712_744dup (human) RGD PMID:12428212 RGD:11535974 NCBI chr  X:59,934,972...59,937,045
Ensembl chr  X:59,934,972...59,937,036 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      endocrine system disease 6290
        Endocrine Bone Diseases 357
          isolated growth hormone deficiency 53
            Alazami Syndrome 4
            CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
            Combined Pituitary Hormone Deficiency, 2 4
            Combined Pituitary Hormone Deficiency, 3 1
            Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
            Idiopathic Short Stature, Autosomal 5
            Isolated Growth Hormone Deficiency Type V 1
            Isolated Growth Hormone Deficiency, Partial 3
            Kowarski Syndrome 1
            Pituitary Dwarfism with Large Sella Turcica 0
            X-Linked Mental Retardation with Isolated Growth Hormone Deficiency 1
            isolated growth hormone deficiency type IA 8
            isolated growth hormone deficiency type IB 2
            isolated growth hormone deficiency type II 2
            isolated growth hormone deficiency type III 25
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            hypothalamic disease 480
              pituitary gland disease 249
                hypopituitarism 76
                  isolated growth hormone deficiency 53
                    Alazami Syndrome 4
                    CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
                    Combined Pituitary Hormone Deficiency, 2 4
                    Combined Pituitary Hormone Deficiency, 3 1
                    Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 0
                    Idiopathic Short Stature, Autosomal 5
                    Isolated Growth Hormone Deficiency Type V 1
                    Isolated Growth Hormone Deficiency, Partial 3
                    Kowarski Syndrome 1
                    Pituitary Dwarfism with Large Sella Turcica 0
                    X-Linked Mental Retardation with Isolated Growth Hormone Deficiency 1
                    isolated growth hormone deficiency type IA 8
                    isolated growth hormone deficiency type IB 2
                    isolated growth hormone deficiency type II 2
                    isolated growth hormone deficiency type III 25
paths to the root