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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 disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. (OMIM)
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
For additional species annotation, visit the Alliance of Genome Resources.



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 Nr5a1 nuclear receptor subfamily 5, group A, member 1 ISS MouseDO NCBI chr 3:22,464,786...22,486,328
Ensembl chr 3:22,465,502...22,486,328
JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia ClinVar PMID:25741868 NCBI chr  X:152,115,699...152,131,608
Ensembl chr  X:152,115,819...152,131,603
JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism with or without anosmia ClinVar PMID:25741868 NCBI chr 8:108,357,629...108,387,083
Ensembl chr 8:108,357,629...108,387,083
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: INTELLECTUAL DEVELOPMENTAL DISORDER AND HYPOGONADOTROPIC HYPOGONADISM
ClinVar Annotator: match by term: BLAKEMORE-DURMAZ-VASILEIOU SYNDROME
ClinVar Annotator: match by term: BDV SYNDROME
ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:32936766 PMID:34383079 NCBI chr16:25,030,276...25,142,231
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 Rnf216 ring finger protein 216 ISO ClinVar Annotator: match by term: Gordon Holmes syndrome
ClinVar Annotator: match by OMIM:212840
OMIM
ClinVar
PMID:11932290 PMID:23656588 PMID:25741868 PMID:25841028 NCBI chr12:11,454,752...11,576,305
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 Anos1 anosmin 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
ClinVar Annotator: match by term: Kallmann syndrome 1
OMIM
ClinVar
PMID:1518845 PMID:1594017 PMID:1639422 PMID:1904396 PMID:8504298 More... NCBI chr10:68,561,954...68,562,801
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 WITHOUT ANOSMIA
ClinVar Annotator: match by OMIM:614839
OMIM
ClinVar
PMID:19079066 PMID:20332248 NCBI chr 7:63,562,552...63,569,170
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 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia
ClinVar Annotator: match by OMIM:614840
OMIM
ClinVar
PMID:18422838 PMID:19079066 PMID:20332248 PMID:21300340 PMID:22031817 More... NCBI chr 2:223,266,536...223,363,791
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 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
DNA:frameshift mutation, nonsense mutation, missense mutations:multiple (human)
DNA:frameshift mutation:cds:c.18-19insA (human)
ClinVar
OMIM
RGD
PMID:19535795 PMID:19567835 PMID:26467025 PMID:28492532 PMID:23936060 More... RGD:9685133, RGD:9685137, RGD:9685134 NCBI chr15:41,972,482...41,976,690
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 chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861
JBrowse link
G Kctd9 potassium channel tetramerization domain containing 9 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr15:41,942,165...41,969,862
Ensembl chr15:41,942,381...41,969,862
JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr 2:223,266,536...223,363,791
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 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 13 with or without anosmia
ClinVar Annotator: match by OMIM:614842
OMIM
ClinVar
PMID:22335740 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr13:44,774,823...44,780,707
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 or without anosmia
ClinVar Annotator: match by OMIM:614858
OMIM
ClinVar
PMID:20887964 PMID:28492532 NCBI chr 1:184,165,260...184,210,834
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: Hypogonadotropic hypogonadism 15 with or without anosmia
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with anosmia
OMIM
ClinVar
PMID:6881209 PMID:21700882 PMID:23643382 PMID:24033266 PMID:25636053 More... NCBI chr 9:38,283,502...38,322,684
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 OMIM:614897
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia
ClinVar
OMIM
PMID:22416012 PMID:22927827 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 4:21,282,398...21,754,834
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 OMIM:615266
OMIM
ClinVar
PMID:23643382 PMID:24033266 PMID:28492532 NCBI chr18:30,436,513...30,451,426
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 or without anosmia
ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA
OMIM
ClinVar
PMID:23643382 PMID:25636053 PMID:25741868 NCBI chr16:2,228,467...2,295,126
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: Hypogonadotropic hypogonadism 19 with or without anosmia
ClinVar Annotator: match by OMIM:615269
OMIM
ClinVar
PMID:23643382 PMID:25741868 NCBI chr 7:34,092,848...34,097,186
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 Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar Annotator: match by term: Kallmann syndrome 2
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia
ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
OMIM
ClinVar
PMID:6881209 PMID:7795583 PMID:7874169 PMID:9536098 PMID:10629055 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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 OMIM:615270 OMIM
ClinVar
PMID:6881209 PMID:21700882 PMID:23643382 NCBI chr15:45,711,901...45,717,063
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: Hypogonadotropic hypogonadism 21 with or without anosmia
ClinVar Annotator: match by OMIM:615271
OMIM
ClinVar
PMID:23643382 PMID:25741868 NCBI chr 3:127,994,491...128,008,137
Ensembl chr 3:127,994,226...128,007,841
JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia
ClinVar PMID:23643382 PMID:25741868 NCBI chr 3:127,720,066...129,737,511
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: Hypogonadotropic hypogonadism 22 with anosmia ClinVar
OMIM
PMID:25192046 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 ClinVar Annotator: match by term: PASQUALINI SYNDROME
ClinVar Annotator: match by OMIM:228300
OMIM
ClinVar
PMID:429481 PMID:1727547 PMID:15602022 PMID:17761593 PMID:19126631 More... NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,898,267...95,901,963
Ensembl chr 1:95,898,267...95,901,963
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: isolated follicle-stimulating hormone deficiency
ClinVar Annotator: match by term: Follicle-stimulating hormone deficiency, isolated
ClinVar Annotator: match by OMIM:229070
OMIM
ClinVar
PMID:4344039 PMID:8220432 PMID:9271483 PMID:9280841 PMID:9624193 More... NCBI chr 3:93,548,560...93,552,370
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
ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA
OMIM
ClinVar
PMID:25741868 PMID:31883645 NCBI chr 4:94,944,749...94,987,414
Ensembl chr 4:94,944,360...94,981,873
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: Kallmann syndrome 3
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia
OMIM
ClinVar
PMID:1855992 PMID:4276467 PMID:8954047 PMID:11259612 PMID:16537498 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
OMIM
PMID:17054399 PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 More... NCBI chr 4:132,346,681...132,361,754
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 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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 chr 1:244,584,477...244,590,359
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 Anos1 anosmin 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:25636053 NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
JBrowse link
G Axl Axl receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:81,265,656...81,296,278
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 1:252,943,589...252,959,578
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 NCBI chr 3:61,948,614...62,109,968
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 7:34,092,848...34,097,186
Ensembl chr 7:34,092,943...34,097,185
JBrowse link
G Fezf1 Fez family zinc finger 1 ISO CTD Direct Evidence: marker/mechanism CTD 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 chr15:45,711,901...45,717,063
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 chr16:66,492,445...66,546,731
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 chr15:41,972,482...41,976,690
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: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar Annotator: match by term: Isolated congenital hypogonadotropic hypogonadism
ClinVar Annotator: match by OMIM:146110
DNA:missense mutations: :p.Q106R, p.R262Q (human)
OMIM
ClinVar
RGD
PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 PMID:10523035 More... RGD:11567265 NCBI chr14:21,856,871...21,874,861
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 9:38,283,502...38,322,684
Ensembl chr 9:38,282,395...38,322,683
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 3:7,861,846...7,870,615
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:25741868 NCBI chr12:1,574,387...1,603,735
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 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25133958 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:25636053 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 chr12:11,454,752...11,576,305
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 NCBI chr 4:20,297,534...20,555,287
Ensembl chr 4:20,299,718...20,555,229
JBrowse link
G Spry4 sprouty RTK signaling antagonist 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:30,436,513...30,451,426
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 chr18:28,269,192...28,273,023
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 7:63,562,552...63,569,170
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 2:223,266,536...223,363,791
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 NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
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
ClinVar Annotator: match by OMIM:614837
OMIM
ClinVar
PMID:12788881 PMID:12944565 PMID:17164310 PMID:18772143 PMID:20371656 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 This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:614838
OMIM
ClinVar
PMID:15362570 PMID:17235395 PMID:21700882 PMID:25741868 NCBI chr 3:7,861,846...7,870,615
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 mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human)
DNA:missense mutations, nonsense mutations:exon:multiple
RGD PMID:16882753 PMID:15845591 PMID:16764984 RGD:11567239, RGD:11567240, RGD:11567241 NCBI chr16:66,492,445...66,546,731
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 Anos1 anosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by OMIM:612370
ClinVar Annotator: match by term: Kallmann Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18414213 PMID:18445044 PMID:21158681 PMID:22461308 PMID:24033266 More... NCBI chr 5:21,812,007...21,995,358
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 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by OMIM:147950
ClinVar Annotator: match by term: Hypogonadism with anosmia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 NCBI chr16:66,492,445...66,546,731
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 chr12:1,574,387...1,603,735
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 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Prok2 prokineticin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
JBrowse link
G Prokr2 prokineticin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD 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:23643381 RGD:12832748 NCBI chr 7:110,725,274...110,735,544
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 chr18:28,269,192...28,273,023
Ensembl chr18:28,269,311...28,272,538
JBrowse link
G Wdr11 WD repeat domain 11 ISS MouseDO NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
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:16763960 PMID:18073582 PMID:18414213 PMID:18445044 PMID:18834967 More... NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      endocrine system disease 5873
        gonadal disease 1040
          hypogonadism 125
            hypogonadotropic hypogonadism 41
              BDV Syndrome 1
              Gordon Holmes syndrome 1
              Hypergonadotropic Hypogonadism and Partial Alopecia 0
              Hypogonadotropic Hypogonadism 25 with Anosmia 1
              Kallmann syndrome + 11
              hypogonadotropic hypogonadism 10 with or without anosmia 1
              hypogonadotropic hypogonadism 11 with or without anosmia 1
              hypogonadotropic hypogonadism 12 with or without anosmia 4
              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 + 1
              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