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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:hypogonadotropic hypogonadism
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Accession:DOID:0090070 term browser browse the term
Definition:A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone. (DO)
Synonyms:exact_synonym: congenital idiopathic hypogonadotropic hypogonadism;   hypogonadotropic hypogonadism with or without anosmia;   hypogonadotropism;   isolated congenital gonadotropin deficiency
 alt_id: DOID:7455
 xref: OMIM:PS147950;   ORDO:432


show annotations for term's descendants           Sort by:
hypogonadotropic hypogonadism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANOS1 anosmin 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr  X:5,163,638...5,363,835
NCBI chr  Y:3,807,032...4,014,112 		JBrowse link
G CCDC141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr15:84,534,725...84,745,296
Ensembl chr15:84,535,922...84,734,182 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:15300250 PMID:16155193 PMID:18073582 PMID:20884005 PMID:21158681 More... NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:12627230 PMID:17200176 PMID:25636053 PMID:25741868 PMID:28492532 More... NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724 		JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr15:59,066,448...59,108,780
Ensembl chr15:59,066,604...59,108,772 		JBrowse link
G KISS1R KISS1 receptor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204 		JBrowse link
G NHLH2 nescient helix-loop-helix 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:35066646 NCBI chr 4:104,852,287...104,858,042
Ensembl chr 4:104,857,635...104,858,042 		JBrowse link
G NLGN3 neuroligin 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr  X:57,174,506...57,204,770
Ensembl chr  X:57,176,103...57,201,461 		JBrowse link
G NR5A1 nuclear receptor subfamily 5 group A member 1 ISO MouseDO NCBI chr 1:265,284,491...265,311,547
Ensembl chr 1:265,284,493...265,311,417 		JBrowse link
G PLXNA3 plexin A3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr  X:124,982,307...124,997,098
Ensembl chr  X:124,983,943...124,997,072 		JBrowse link
G POLR3B RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia ClinVar PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chr 5:13,805,157...13,926,733
Ensembl chr 5:13,804,930...13,926,604 		JBrowse link
G POU6F2 POU class 6 homeobox 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia ClinVar PMID:25741868 NCBI chr18:54,744,833...55,231,628
Ensembl chr18:54,748,790...55,231,511 		JBrowse link
G PROK2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr13:53,169,040...53,184,695
Ensembl chr13:53,169,524...53,185,171 		JBrowse link
G SEMA3F semaphorin 3F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr13:32,641,376...32,671,231
Ensembl chr13:32,641,424...32,671,223 		JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 2:143,877,334...143,891,280
Ensembl chr 2:143,875,355...143,892,292 		JBrowse link
G TACR3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613 		JBrowse link
G WDR11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:20887964 PMID:25741868 PMID:28492532 NCBI chr14:130,618,924...130,674,536
Ensembl chr14:130,511,592...130,674,774 		JBrowse link
BDV Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPE carboxypeptidase E ISO ClinVar Annotator: match by term: BDV syndrome | ClinVar Annotator: match by term: BLAKEMORE-DURMAZ-VASILEIOU SYNDROME | ClinVar Annotator: match by term: CPE-related condition OMIM
ClinVar		 PMID:25741868 PMID:26120850 PMID:28492532 PMID:34383079 NCBI chr 8:43,568,744...43,695,475
Ensembl chr 8:43,565,054...43,696,268 		JBrowse link
Gordon Holmes syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome ClinVar PMID:25741868 NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777 		JBrowse link
G RNF216 ring finger protein 216 ISO ClinVar Annotator: match by term: Cerebellar ataxia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome OMIM
ClinVar		 PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 More... NCBI chr 3:4,158,447...4,329,458
Ensembl chr 3:4,158,450...4,329,378 		JBrowse link
hypogonadotropic hypogonadism 1 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANOS1 anosmin 1 ISO ClinVar Annotator: match by term: ANOS1-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia OMIM
ClinVar		 PMID:1518845 PMID:1594017 PMID:1639422 PMID:1904396 PMID:8504298 More... NCBI chr  X:5,163,638...5,363,835
NCBI chr  Y:3,807,032...4,014,112 		JBrowse link
hypogonadotropic hypogonadism 10 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAC3 tachykinin precursor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 without anosmia OMIM
ClinVar		 PMID:19079066 PMID:20332248 NCBI chr 5:22,324,927...22,336,464
Ensembl chr 5:22,324,932...22,332,916 		JBrowse link
hypogonadotropic hypogonadism 11 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TACR3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia OMIM
ClinVar		 PMID:16199547 PMID:18422838 PMID:19079066 PMID:20194706 PMID:20332248 More... NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613 		JBrowse link
hypogonadotropic hypogonadism 12 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNRH1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency OMIM
ClinVar		 PMID:19535795 PMID:19567835 PMID:25741868 PMID:26467025 PMID:26595427 More... NCBI chr14:9,442,971...9,447,521
Ensembl chr14:9,442,971...9,453,035 		JBrowse link
G TACR3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613 		JBrowse link
hypogonadotropic hypogonadism 14 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with or without anosmia OMIM
ClinVar		 PMID:20887964 PMID:25741868 PMID:28492532 PMID:29263200 NCBI chr14:130,618,924...130,674,536
Ensembl chr14:130,511,592...130,674,774 		JBrowse link
hypogonadotropic hypogonadism 15 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with or without anosmia OMIM
ClinVar		 PMID:6881209 PMID:21700882 PMID:23643382 PMID:24033266 PMID:25077900 More... NCBI chr15:59,066,448...59,108,780
Ensembl chr15:59,066,604...59,108,772 		JBrowse link
hypogonadotropic hypogonadism 16 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEMA3A semaphorin 3A ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia | ClinVar Annotator: match by term: SEMA3A-related condition OMIM
ClinVar		 PMID:22416012 PMID:22927827 PMID:24033266 PMID:24728844 PMID:24963029 More... NCBI chr 9:95,934,937...96,387,950
Ensembl chr 9:96,181,770...96,387,950 		JBrowse link
hypogonadotropic hypogonadism 17 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPRY4 sprouty RTK signaling antagonist 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 17 with or without anosmia OMIM
ClinVar		 PMID:23643382 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 2:143,877,334...143,891,280
Ensembl chr 2:143,875,355...143,892,292 		JBrowse link
hypogonadotropic hypogonadism 18 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL17RD interleukin 17 receptor D ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with or without anosmia OMIM
ClinVar		 PMID:23643382 PMID:25636053 PMID:25741868 PMID:28492532 NCBI chr13:38,935,631...39,006,721
Ensembl chr13:38,939,316...39,006,690 		JBrowse link
hypogonadotropic hypogonadism 19 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DUSP6 dual specificity phosphatase 6 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 19 with or without anosmia OMIM
ClinVar		 PMID:23643382 PMID:25741868 PMID:28492532 NCBI chr 5:93,303,058...93,307,510
Ensembl chr 5:93,302,975...93,307,504 		JBrowse link
hypogonadotropic hypogonadism 2 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:47,523,768...47,601,722
Ensembl chr15:47,523,771...47,601,710 		JBrowse link
G ADGRA2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,572,953...48,611,034
Ensembl chr15:48,573,197...48,610,668 		JBrowse link
G ADRB3 adrenoceptor beta 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,468,803...48,478,370
Ensembl chr15:48,475,144...48,479,562 		JBrowse link
G ASH2L ASH2 like, histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,386,426...48,417,560
Ensembl chr15:48,386,425...48,417,547 		JBrowse link
G BAG4 BAG cochaperone 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,299,456...48,348,810
Ensembl chr15:48,299,666...48,348,527 		JBrowse link
G BRF2 BRF2 RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,568,207...48,573,036
Ensembl chr15:48,568,202...48,573,029 		JBrowse link
G DDHD2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,239,932...48,292,413
Ensembl chr15:48,252,338...48,292,181 		JBrowse link
G EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,423,001...48,443,373
Ensembl chr15:48,422,816...48,443,399 		JBrowse link
G ERLIN2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,643,722...48,662,648
Ensembl chr15:48,643,724...48,662,536 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia | ClinVar Annotator: match by term: Kallmann syndrome 2 OMIM
ClinVar		 PMID:1456217 PMID:6881209 PMID:7795583 PMID:7874169 PMID:8948562 More... NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724 		JBrowse link
G GOT1L1 glutamic-oxaloacetic transaminase 1 like 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,500,156...48,506,992
Ensembl chr15:48,499,964...48,507,010 		JBrowse link
G HTRA4 HtrA serine peptidase 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:47,610,580...47,625,889 JBrowse link
G LETM2 leucine zipper and EF-hand containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,110,645...48,132,429
Ensembl chr15:48,110,652...48,131,991 		JBrowse link
G LSM1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,348,653...48,360,004
Ensembl chr15:48,348,648...48,365,106 		JBrowse link
G NSD3 nuclear receptor binding SET domain protein 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,119,132...48,245,673
Ensembl chr15:48,136,363...48,241,815 		JBrowse link
G PLEKHA2 pleckstrin homology domain containing A2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:47,626,107...47,697,238
Ensembl chr15:47,626,110...47,697,603 		JBrowse link
G PLPBP pyridoxal phosphate binding protein ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,624,790...48,636,584
Ensembl chr15:48,624,837...48,636,589 		JBrowse link
G PLPP5 phospholipid phosphatase 5 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,246,054...48,251,839
Ensembl chr15:48,246,029...48,252,196 		JBrowse link
G PROKR2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:4276467 PMID:8954047 PMID:11259612 PMID:17054399 PMID:18559922 More... NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307 		JBrowse link
G RAB11FIP1 RAB11 family interacting protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,527,379...48,561,408 JBrowse link
G STAR steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,377,597...48,385,398
Ensembl chr15:48,377,521...48,385,462 		JBrowse link
G TACC1 transforming acidic coiled-coil containing protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:47,749,079...47,861,200 JBrowse link
G TM2D2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:47,601,940...47,611,802
Ensembl chr15:47,601,616...47,611,804 		JBrowse link
hypogonadotropic hypogonadism 20 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 without anosmia OMIM
ClinVar		 PMID:6881209 PMID:21700882 PMID:23643382 NCBI chr14:6,310,840...6,315,465
Ensembl chr14:6,309,735...6,315,882 		JBrowse link
hypogonadotropic hypogonadism 21 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLRT3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia OMIM
ClinVar		 PMID:23643382 PMID:25741868 PMID:28492532 NCBI chr17:22,940,491...22,955,277
Ensembl chr17:22,940,492...22,954,424 		JBrowse link
G MACROD2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia ClinVar PMID:23643382 PMID:25741868 PMID:28492532 NCBI chr17:22,635,105...24,686,846
Ensembl chr17:22,635,284...24,683,549 		JBrowse link
hypogonadotropic hypogonadism 22 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FEZF1 FEZ family zinc finger 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with or without anosmia OMIM
ClinVar		 PMID:25192046 PMID:25741868 NCBI chr18:24,881,850...24,884,790
Ensembl chr18:24,879,031...24,884,917 		JBrowse link
hypogonadotropic hypogonadism 23 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LHB luteinizing hormone subunit beta ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 23 with or without anosmia OMIM
ClinVar		 PMID:429481 PMID:1727547 PMID:8979264 PMID:9457942 PMID:9694256 More... NCBI chr 6:54,263,574...54,269,286
Ensembl chr 6:54,263,576...54,271,086 		JBrowse link
hypogonadotropic hypogonadism 24 without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FSHB follicle stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 24 without anosmia OMIM
ClinVar		 PMID:4344039 PMID:8220432 PMID:9271483 PMID:9280841 PMID:9624193 More... NCBI chr 2:30,395,769...30,399,282
Ensembl chr 2:30,395,018...30,399,274 		JBrowse link
Hypogonadotropic Hypogonadism 25 with Anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDNF neuron derived neurotrophic factor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 25 with anosmia OMIM
ClinVar		 PMID:25741868 PMID:31883645 NCBI chr 8:103,047,783...103,094,800
Ensembl chr 8:102,996,281...103,088,230 		JBrowse link
Hypogonadotropic Hypogonadism 26 with or without Anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TCF12 transcription factor 12 ISO ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 26 with or without anosmia OMIM
ClinVar		 PMID:23354436 PMID:25741868 PMID:28492532 PMID:32620954 NCBI chr 1:114,682,299...115,056,363
Ensembl chr 1:114,682,303...115,056,262 		JBrowse link
Hypogonadotropic Hypogonadism 27 without Anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAN2C1 mannosidase alpha class 2C member 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia ClinVar NCBI chr 7:58,247,264...58,261,204
Ensembl chr 7:58,248,384...58,261,203 		JBrowse link
G NHLH2 nescient helix-loop-helix 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia OMIM
ClinVar		 PMID:25741868 PMID:35066646 NCBI chr 4:104,852,287...104,858,042
Ensembl chr 4:104,857,635...104,858,042 		JBrowse link
hypogonadotropic hypogonadism 3 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PROKR2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia | ClinVar Annotator: match by term: Kallmann syndrome 3 OMIM
ClinVar		 PMID:1855992 PMID:2403109 PMID:4276467 PMID:8954047 PMID:11259612 More... NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307 		JBrowse link
hypogonadotropic hypogonadism 4 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PROK2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 4 with or without anosmia | ClinVar Annotator: match by term: PROK2-related condition OMIM
ClinVar		 PMID:17054399 PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 More... NCBI chr13:53,169,040...53,184,695
Ensembl chr13:53,169,524...53,185,171 		JBrowse link
hypogonadotropic hypogonadism 5 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia OMIM
ClinVar		 PMID:9536098 PMID:15300250 PMID:16155193 PMID:16400610 PMID:16615981 More... NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146 		JBrowse link
hypogonadotropic hypogonadism 6 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 6 with or without anosmia OMIM
ClinVar		 PMID:17360555 PMID:18596921 PMID:20463092 PMID:21045958 PMID:21832120 More... NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248 		JBrowse link
hypogonadotropic hypogonadism 7 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANOS1 anosmin 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:8504298 PMID:11297579 PMID:23643382 PMID:25636053 PMID:28492532 More... NCBI chr  X:5,163,638...5,363,835
NCBI chr  Y:3,807,032...4,014,112 		JBrowse link
G AXL AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 6:49,245,802...49,277,917
Ensembl chr 6:49,245,673...49,277,914 		JBrowse link
G BBIP1 BBSome interacting protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar NCBI chr14:121,327,357...121,348,671
Ensembl chr14:121,334,760...121,348,543 		JBrowse link
G CCDC141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:25741868 PMID:28492532 PMID:34930920 PMID:35316923 PMID:35432193 NCBI chr15:84,534,725...84,745,296
Ensembl chr15:84,535,922...84,734,182 		JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:26694549 PMID:28492532 NCBI chr 9:39,638,505...39,643,530
Ensembl chr 9:39,638,506...39,643,530 		JBrowse link
G DUSP6 dual specificity phosphatase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:93,303,058...93,307,510
Ensembl chr 5:93,302,975...93,307,504 		JBrowse link
G FEZF1 FEZ family zinc finger 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:25741868 PMID:28492532 NCBI chr18:24,881,850...24,884,790
Ensembl chr18:24,879,031...24,884,917 		JBrowse link
G FGF17 fibroblast growth factor 17 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:6,310,840...6,315,465
Ensembl chr14:6,309,735...6,315,882 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:12627230 PMID:16882753 PMID:17200176 PMID:25636053 PMID:25741868 More... NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19535795 NCBI chr14:9,442,971...9,447,521
Ensembl chr14:9,442,971...9,453,035 		JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:21700882 PMID:23643382 PMID:24033266 PMID:25636053 PMID:25741868 More... NCBI chr15:59,066,448...59,108,780
Ensembl chr15:59,066,604...59,108,772 		JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor ISO DNA:deletion:intron:c.1159-14_-22del (human) RGD PMID:17235395 RGD:11567265
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:25033069 PMID:25359264 PMID:25741868 PMID:28492532 PMID:34234304 More... NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777 		JBrowse link
G POLR3B RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:16199547 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 More... NCBI chr 5:13,805,157...13,926,733
Ensembl chr 5:13,804,930...13,926,604 		JBrowse link
G PROKR2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:18559922 PMID:24830383 PMID:25636053 PMID:25741868 PMID:26467025 More... NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307 		JBrowse link
G RNF216 ring finger protein 216 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:25558065 NCBI chr 3:4,158,447...4,329,458
Ensembl chr 3:4,158,450...4,329,378 		JBrowse link
G SEMA3E semaphorin 3E ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:96,682,178...96,941,074
Ensembl chr 9:96,682,246...96,941,072 		JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:143,877,334...143,891,280
Ensembl chr 2:143,875,355...143,892,292 		JBrowse link
G SRA1 steroid receptor RNA activator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:142,307,009...142,314,613
Ensembl chr 2:142,307,012...142,313,738 		JBrowse link
G TAC3 tachykinin precursor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:25636053 NCBI chr 5:22,324,927...22,336,464
Ensembl chr 5:22,324,932...22,332,916 		JBrowse link
G TACR3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:25636053 NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613 		JBrowse link
G WDR11 WD repeat domain 11 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:25741868 PMID:28492532 NCBI chr14:130,618,924...130,674,536
Ensembl chr14:130,511,592...130,674,774 		JBrowse link
hypogonadotropic hypogonadism 8 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KISS1R KISS1 receptor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia OMIM
ClinVar		 PMID:12788881 PMID:12944565 PMID:14573733 PMID:17164310 PMID:18772143 More... NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204 		JBrowse link
hypogonadotropic hypogonadism 9 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 9 with or without anosmia | ClinVar Annotator: match by term: NSMF-related condition OMIM
ClinVar		 PMID:15362570 PMID:17235395 PMID:21700882 PMID:25741868 PMID:28492532
Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 ISO DNA:missense mutations, nonsense mutations:exon:multiple
DNA:frameshift mutation, missense mutations: :multiple
DNA:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human) 		RGD PMID:15845591 PMID:16764984 PMID:16882753 RGD:11567239 RGD:11567240 RGD:11567241 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724 		JBrowse link
Kallmann syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANOS1 anosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:5,163,638...5,363,835
NCBI chr  Y:3,807,032...4,014,112 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:18414213 PMID:18445044 PMID:21158681 PMID:22461308 PMID:24033266 More... NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Anosmic hypogonadism | ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777 		JBrowse link
G POLR2F RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726 		JBrowse link
G PROK2 prokineticin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:53,169,040...53,184,695
Ensembl chr13:53,169,524...53,185,171 		JBrowse link
G PROKR2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Anosmic hypogonadism ClinVar PMID:17054399 PMID:18682503 PMID:18826963 PMID:20022991 PMID:22466334 More... NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743 		JBrowse link
G SRA1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr 2:142,307,009...142,314,613
Ensembl chr 2:142,307,012...142,313,738 		JBrowse link
G TCF12 transcription factor 12 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 PMID:32629054 NCBI chr 1:114,682,299...115,056,363
Ensembl chr 1:114,682,303...115,056,262 		JBrowse link
G WDR11 WD repeat domain 11 ISO MouseDO NCBI chr14:130,618,924...130,674,536
Ensembl chr14:130,511,592...130,674,774 		JBrowse link
Kallmann Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Kallmann syndrome 5 ClinVar PMID:9536098 PMID:17576681 PMID:18834967 PMID:22461308 PMID:25741868 More... NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146 		JBrowse link
Kallmann Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Kallmann syndrome 6 ClinVar PMID:22399515 PMID:23533228 PMID:25131394 PMID:25741868 PMID:26467025 More... NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15277
    disease of anatomical entity 14911
      endocrine system disease 6002
        gonadal disease 1174
          hypogonadism 194
            hypogonadotropic hypogonadism 65
              BDV Syndrome 1
              Gordon Holmes syndrome 2
              Hypergonadotropic Hypogonadism and Partial Alopecia 0
              Hypogonadotropic Hypogonadism 25 with Anosmia 1
              Hypogonadotropic Hypogonadism 26 with or without Anosmia 1
              Hypogonadotropic Hypogonadism 27 without Anosmia 2
              Kallmann syndrome + 33
              hypogonadotropic hypogonadism 10 with or without anosmia 1
              hypogonadotropic hypogonadism 11 with or without anosmia 1
              hypogonadotropic hypogonadism 12 with or without anosmia 2
              hypogonadotropic hypogonadism 13 with or without anosmia 0
              hypogonadotropic hypogonadism 14 with or without anosmia 1
              hypogonadotropic hypogonadism 15 with or without anosmia 1
              hypogonadotropic hypogonadism 16 with or without anosmia 1
              hypogonadotropic hypogonadism 17 with or without anosmia 1
              hypogonadotropic hypogonadism 18 with or without anosmia 1
              hypogonadotropic hypogonadism 19 with or without anosmia 1
              hypogonadotropic hypogonadism 2 with or without anosmia + 23
              hypogonadotropic hypogonadism 20 with or without anosmia 1
              hypogonadotropic hypogonadism 21 with or without anosmia 2
              hypogonadotropic hypogonadism 22 with or without anosmia 1
              hypogonadotropic hypogonadism 23 with or without anosmia 1
              hypogonadotropic hypogonadism 24 without anosmia 1
              hypogonadotropic hypogonadism 5 with or without anosmia + 1
              hypogonadotropic hypogonadism 6 with or without anosmia 1
              hypogonadotropic hypogonadism 7 with or without anosmia 22
              hypogonadotropic hypogonadism 8 with or without anosmia 1
              hypogonadotropic hypogonadism 9 with or without anosmia 1
paths to the root