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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: MIM:PS147950;   ORDO:432



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hypogonadotropic hypogonadism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr 3:82,357,046...82,517,199
Ensembl chr 3:61,948,646...62,110,079
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia ClinVar PMID:7557974 PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 More... NCBI chr14:22,211,666...22,229,654
Ensembl chr14:21,856,871...21,874,861
JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia ClinVar PMID:14573733 PMID:23349759 PMID:25741868 PMID:28492532 PMID:31073722 NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
JBrowse link
G Nhlh2 nescient helix loop helix 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:35066646 NCBI chr 2:189,444,287...189,449,625
Ensembl chr 2:189,442,711...189,449,625
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar NCBI chr  X:70,469,251...70,497,380
Ensembl chr  X:66,429,458...66,451,876
JBrowse link
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISS MouseDO NCBI chr 3:42,874,505...42,896,109
Ensembl chr 3:22,465,502...22,486,328
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr  X:157,266,986...157,282,896
Ensembl chr  X:152,115,819...152,131,603
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 7:112,592,977...112,604,681
Ensembl chr 7:110,712,572...110,724,234
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 7:20,926,866...21,030,133
Ensembl chr 7:19,038,552...19,142,598
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 chr17:46,472,182...46,886,796
Ensembl chr17:46,472,181...46,921,039
JBrowse link
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 4:133,903,210...133,918,126
Ensembl chr 4:132,347,103...132,361,385
JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia ClinVar PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 More... NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 8:117,236,269...117,265,206
Ensembl chr 8:108,357,629...108,387,083
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:44,008,340...44,010,354
JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr 2:225,940,497...226,037,756
Ensembl chr 2:223,266,536...223,363,791
JBrowse link
G Wfdc17 WAP four-disulfide core domain 17 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism ClinVar PMID:8504298 PMID:11297579 PMID:16199547 PMID:25741868 PMID:28492532 More... NCBI chr10:69,059,451...69,060,298
Ensembl chr10:68,561,954...68,562,801
JBrowse link
BDV Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpe carboxypeptidase E ISO DNA:missense mutations:CDS:exon 2, c.361C>T p.Arg121|exon 6 c994del p.Ser333Alafx*22
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
RGD
PMID:25741868 PMID:26120850 PMID:28492532 PMID:34383079 PMID:35562395 More... RGD:405650667 NCBI chr16:29,796,707...29,908,647
Ensembl chr16:25,030,276...25,142,233
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 chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Rnf216 ring finger protein 216 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome | ClinVar Annotator: match by term: RNF216-related condition
OMIM
CTD
ClinVar
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 PMID:28492532 More... NCBI chr12:16,568,327...16,689,868
Ensembl chr12:11,454,797...11,576,304
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 Wfdc17 WAP four-disulfide core domain 17 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 chr10:69,059,451...69,060,298
Ensembl chr10:68,561,954...68,562,801
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 PMID:25741868 NCBI chr 7:65,447,817...65,454,427
Ensembl chr 7:63,562,552...63,569,170
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
ISS
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia | ClinVar Annotator: match by term: TACR3-related condition
OMIM:614840
OMIM
ClinVar
MouseDO
PMID:16199547 PMID:18422838 PMID:19079066 PMID:20194706 PMID:20332248 More... NCBI chr 2:225,940,497...226,037,756
Ensembl chr 2:223,266,536...223,363,791
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
ISS
DNA:missense mutation:cds:p.R31C (human)
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency
OMIM:614841
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutation, nonsense mutation, missense mutations:multiple (human)
DNA:frameshift mutation:cds:c.18-19insA (human)
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:19535795 PMID:19567835 PMID:25741868 PMID:26467025 PMID:26595427 More... RGD:9685133, RGD:9685137, RGD:9685134 NCBI chr15:46,147,878...46,152,086
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581
JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar PMID:9371856 PMID:11397871 PMID:12364481 PMID:12606630 PMID:15240592 More... NCBI chr14:22,211,666...22,229,654
Ensembl chr14:21,856,871...21,874,861
JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr 2:225,940,497...226,037,756
Ensembl chr 2:223,266,536...223,363,791
JBrowse link
hypogonadotropic hypogonadism 13 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiss1 KiSS-1 metastasis-suppressor ISO
ISS
OMIM:614842
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 13 with or without anosmia | ClinVar Annotator: match by term: KISS1-related condition
OMIM
MouseDO
ClinVar
PMID:22335740 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr13:47,327,159...47,332,759
Ensembl chr13:44,774,823...44,780,612
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 | ClinVar Annotator: match by term: WDR11-related condition OMIM
ClinVar
PMID:20887964 PMID:25741868 PMID:27899157 PMID:28492532 PMID:29263200 More... NCBI chr 1:193,595,606...193,641,149
Ensembl chr 1:184,165,571...184,210,846
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: HS6ST1-related condition | 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 chr 9:45,779,402...45,818,583
Ensembl chr 9:38,282,395...38,322,683
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 4:22,239,418...22,709,907
Ensembl chr 4:21,287,982...21,494,432
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 | ClinVar Annotator: match by term: SPRY4-related condition OMIM
ClinVar
PMID:23643382 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr18:30,687,633...30,702,546
Ensembl chr18:30,436,443...30,453,004
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 | ClinVar Annotator: match by term: IL17RD-related condition OMIM
ClinVar
PMID:23643382 PMID:25636053 PMID:25741868 PMID:28492532 NCBI chr16:2,235,172...2,489,827
Ensembl chr16:2,228,287...2,292,556
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: DUSP6-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 19 with or without anosmia OMIM
ClinVar
PMID:23643382 PMID:25741868 PMID:28492532 NCBI chr 7:35,979,502...35,983,834
Ensembl chr 7:34,092,943...34,097,185
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 chr16:73,725,186...73,804,284
Ensembl chr16:67,022,655...67,100,917
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 chr16:71,635,814...71,674,275
Ensembl chr16:64,933,315...64,971,483
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 chr16:71,544,603...71,547,410
Ensembl chr16:64,841,788...64,844,552
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 chr16:72,943,527...72,966,791
Ensembl chr16:66,242,212...66,264,061
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 chr16:72,991,407...73,008,620
Ensembl chr16:66,288,678...66,308,663
JBrowse link
G Brf2 BRF2 general transcription factor 3B 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 chr16:71,626,146...71,635,909
Ensembl chr16:64,928,300...64,933,059
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 chr16:73,022,136...73,051,746
Ensembl chr16:66,319,466...66,349,023
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 chr16:71,495,457...71,508,845
Ensembl chr16:64,790,226...64,805,984
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 chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671
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 chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
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 chr16:64,860,308...64,873,656
Ensembl chr16:64,860,704...64,866,162
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 chr16:73,704,255...73,717,722
Ensembl chr16:67,001,605...67,015,074
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 chr16:66,464,958...66,489,640
Ensembl chr16:66,469,111...66,489,704
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 chr16:72,980,075...72,991,581
Ensembl chr16:66,277,345...66,288,852
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 chr16:66,354,030...66,466,202
Ensembl chr16:66,358,973...66,465,423
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 chr16:66,938,684...67,000,661
Ensembl chr16:66,939,109...66,999,395
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 chr16:71,705,064...71,717,726
Ensembl chr16:65,002,223...65,014,886
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 chr16:73,052,204...73,056,609
Ensembl chr16:66,349,502...66,464,797
JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Kallmann syndrome 2 ClinVar PMID:4276467 PMID:8954047 PMID:11259612 PMID:17054399 PMID:18559922 More... NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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 chr16:71,589,753...71,620,341
Ensembl chr16:64,884,676...64,917,491
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 chr16:72,969,824...72,974,447
Ensembl chr16:66,264,807...66,271,672
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 chr16:73,515,016...73,598,395
Ensembl chr16:66,812,295...66,895,733
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 chr16:67,016,683...67,022,206
Ensembl chr16:67,012,675...67,022,226
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 chr15:45,711,498...45,717,622
Ensembl chr15:45,711,998...45,717,063
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: FLRT3-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia OMIM
ClinVar
PMID:23643382 PMID:25741868 PMID:28492532 NCBI chr 3:148,448,115...148,461,458
Ensembl chr 3:127,994,226...128,007,841
JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: FLRT3-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia ClinVar PMID:23643382 PMID:25741868 PMID:28492532 NCBI chr 3:148,173,821...150,191,077
Ensembl chr 3:127,720,181...129,734,492
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: FEZF1-related condition | 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 PMID:28492532 NCBI chr 4:51,762,751...51,766,078
Ensembl chr 4:51,762,751...51,766,078
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 23 with or without anosmia | ClinVar Annotator: match by term: LHB-related condition
OMIM
CTD
ClinVar
PMID:429481 PMID:1727547 PMID:8979264 PMID:9457942 PMID:9694256 More... NCBI chr 1:105,037,457...105,038,446
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 24 without anosmia
OMIM
CTD
ClinVar
PMID:4344039 PMID:8220432 PMID:9271483 PMID:9280841 PMID:9624193 More... NCBI chr 3:114,003,262...114,007,072
Ensembl chr 3:93,548,560...93,552,370
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 4:96,274,147...96,311,624
Ensembl chr 4:94,944,360...94,981,873
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 8:81,371,201...81,682,337
Ensembl chr 8:72,492,567...72,799,201
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 8:66,434,480...66,445,649
Ensembl chr 8:57,537,321...57,549,690
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 2:189,444,287...189,449,625
Ensembl chr 2:189,442,711...189,449,625
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 | ClinVar Annotator: match by term: PROKR2-related condition OMIM
ClinVar
PMID:1855992 PMID:2403109 PMID:4276467 PMID:8954047 PMID:11259612 More... NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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: Kallmann syndrome 4 | ClinVar Annotator: match by term: PROK2-related condition OMIM
ClinVar
PMID:17054399 PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 More... NCBI chr 4:133,903,210...133,918,126
Ensembl chr 4:132,347,103...132,361,385
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 | 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 5:26,609,245...26,792,736
Ensembl chr 5:21,812,070...21,995,358
JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia ClinVar PMID:15235037 PMID:25741868 PMID:28492532 PMID:32441320 NCBI chr 4:21,252,686...21,510,449
Ensembl chr 4:20,299,718...20,555,229
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: FGF8-related condition | 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 chr 1:254,533,504...254,539,605
Ensembl chr 1:244,584,652...244,590,359
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 Axl Axl receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
CTD
ClinVar
PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:81,265,088...81,296,265
JBrowse link
G Bbip1 BBSome interacting protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar NCBI chr 1:262,950,459...262,964,410
Ensembl chr 1:252,945,557...252,959,352
JBrowse link
G Ccdc141 coiled-coil domain containing 141 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
CTD
ClinVar
PMID:25741868 PMID:28492532 PMID:34930920 PMID:35316923 PMID:35432193 NCBI chr 3:82,357,046...82,517,199
Ensembl chr 3:61,948,646...62,110,079
JBrowse link
G Dusp6 dual specificity phosphatase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:35,979,502...35,983,834
Ensembl chr 7:34,092,943...34,097,185
JBrowse link
G Fezf1 Fez family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 4:51,762,751...51,766,078
Ensembl chr 4:51,762,751...51,766,078
JBrowse link
G Fgf17 fibroblast growth factor 17 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:45,711,498...45,717,622
Ensembl chr15:45,711,998...45,717,063
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:missense mutations, nonsense mutation:exon:multiple
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
DNA:missense mutations:exon:p.L342S (c.1025T>C), p.R470L (c.1409G>T) (human)
DNA:nonsense mutation:exon:pR622X (1864C>T) (human)
DNA:deletion:intron:c.2049-1G>C (human)
ClinVar
RGD
PMID:12627230 PMID:16882753 PMID:17200176 PMID:25636053 PMID:25741868 More... RGD:11567242, RGD:11567265, RGD:11567246, RGD:11567244 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19535795 NCBI chr15:46,147,878...46,152,086
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581
JBrowse link
G Gnrhr gonadotropin releasing hormone receptor ISO
ISS
ClinVar Annotator: match by term: GNRHR-related condition | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia | ClinVar Annotator: match by term: Isolated congenital hypogonadotropic hypogonadism
OMIM:146110
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :p.Q106R, p.R262Q (human)
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:7557974 PMID:9371856 PMID:9425890 PMID:9449676 PMID:10022417 More... RGD:11567265 NCBI chr14:22,211,666...22,229,654
Ensembl chr14:21,856,871...21,874,861
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 chr 9:45,779,402...45,818,583
Ensembl chr 9:38,282,395...38,322,683
JBrowse link
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism ClinVar PMID:14573733 PMID:23349759 PMID:25741868 PMID:28492532 PMID:31073722 NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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 NCBI chr 3:28,260,018...28,268,790
Ensembl chr 3:7,861,872...7,870,614
JBrowse link
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 chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia | ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism ClinVar PMID:16199547 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 More... NCBI chr 7:20,926,866...21,030,133
Ensembl chr 7:19,038,552...19,142,598
JBrowse link
G Pou6f2 POU class 6 homeobox 2 ISO ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism ClinVar PMID:25741868 NCBI chr17:46,472,182...46,886,796
Ensembl chr17:46,472,181...46,921,039
JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia | ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism ClinVar PMID:16537498 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 More... NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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 chr12:16,568,327...16,689,868
Ensembl chr12:11,454,797...11,576,304
JBrowse link
G Sema3e semaphorin 3E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 4:21,252,686...21,510,449
Ensembl chr 4:20,299,718...20,555,229
JBrowse link
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:49,736,773...49,738,794
Ensembl chr 6:44,008,340...44,010,354
JBrowse link
G Spry4 sprouty RTK signaling antagonist 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:30,687,633...30,702,546
Ensembl chr18:30,436,443...30,453,004
JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:28,543,347...28,547,474
Ensembl chr18:28,269,311...28,272,538
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 7:65,447,817...65,454,427
Ensembl chr 7:63,562,552...63,569,170
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 2:225,940,497...226,037,756
Ensembl chr 2:223,266,536...223,363,791
JBrowse link
G Wdr11 WD repeat domain 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 1:193,595,606...193,641,149
Ensembl chr 1:184,165,571...184,210,846
JBrowse link
G Wfdc17 WAP four-disulfide core domain 17 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:8504298 PMID:11297579 PMID:23643382 PMID:25636053 PMID:25741868 More... NCBI chr10:69,059,451...69,060,298
Ensembl chr10:68,561,954...68,562,801
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
ISS
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia
OMIM:614837
OMIM
ClinVar
MouseDO
PMID:12788881 PMID:12944565 PMID:14573733 PMID:17164310 PMID:18272894 More... NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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:28106320 More... NCBI chr 3:28,260,018...28,268,790
Ensembl chr 3:7,861,872...7,870,614
JBrowse link
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:frameshift mutation, missense mutations: :multiple
DNA:missense mutations, nonsense mutations:exon:multiple
DNA:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human)
RGD PMID:16882753 PMID:16764984 PMID:15845591 RGD:11567239, RGD:11567241, RGD:11567240 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
JBrowse link
Kallmann syndrome 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: Hypogonadism with anosmia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18414213 PMID:18445044 PMID:21158681 PMID:22461308 PMID:24033266 More... NCBI chr 5:26,609,245...26,792,736
Ensembl chr 5:21,812,070...21,995,358
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:244,584,652...244,590,359
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anosmic hypogonadism | ClinVar Annotator: match by term: Hypogonadism with anosmia
CTD
ClinVar
PMID:25741868 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 PMID:33111345 NCBI chr 7:112,592,977...112,604,681
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Prok2 prokineticin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:133,903,210...133,918,126
Ensembl chr 4:132,347,103...132,361,385
JBrowse link
G Prokr2 prokineticin receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anosmic hypogonadism
CTD
ClinVar
PMID:17054399 PMID:18682503 PMID:18826963 PMID:20022991 PMID:22466334 More... NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO
ISS
DNA:mutations:cds:
ClinVar Annotator: match by term: Hypogonadism with anosmia
ClinVar
MouseDO
RGD
PMID:25741868 PMID:33111345 PMID:23643381 RGD:12832748 NCBI chr 7:112,605,721...112,615,097
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr18:28,543,347...28,547,474
Ensembl chr18:28,269,311...28,272,538
JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 PMID:32629054 NCBI chr 8:81,371,201...81,682,337
Ensembl chr 8:72,492,567...72,799,201
JBrowse link
G Wdr11 WD repeat domain 11 ISS MouseDO NCBI chr 1:193,595,606...193,641,149
Ensembl chr 1:184,165,571...184,210,846
JBrowse link
G Wfdc17 WAP four-disulfide core domain 17 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA
CTD
ClinVar
PMID:23533228 PMID:25741868 PMID:28492532 NCBI chr10:69,059,451...69,060,298
Ensembl chr10:68,561,954...68,562,801
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:15300250 PMID:16155193 PMID:16615981 PMID:17576681 More... NCBI chr 5:26,609,245...26,792,736
Ensembl chr 5:21,812,070...21,995,358
JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: Kallmann syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:21,252,686...21,510,449
Ensembl chr 4:20,299,718...20,555,229
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      endocrine system disease 7039
        gonadal disease 1392
          hypogonadism 212
            hypogonadotropic hypogonadism 67
              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 + 34
              hypogonadotropic hypogonadism 10 with or without anosmia 1
              hypogonadotropic hypogonadism 11 with or without anosmia 1
              hypogonadotropic hypogonadism 12 with or without anosmia 3
              hypogonadotropic hypogonadism 13 with or without anosmia 1
              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 + 2
              hypogonadotropic hypogonadism 6 with or without anosmia 1
              hypogonadotropic hypogonadism 7 with or without anosmia 25
              hypogonadotropic hypogonadism 8 with or without anosmia 1
              hypogonadotropic hypogonadism 9 with or without anosmia 1
paths to the root