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 7 with or without anosmia
Accession: DOID:0090078
browse the term
Definition: A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. (DO)
Synonyms: exact_synonym: HH7; IHH; ISOLATED CONGENITAL HYPOGONADOTROPIC HYPOGONADISM; idiopathic hypogonadotropic hypogonadism; isolated hypogonadotropic hypogonadism
primary_id: MESH:C562785
alt_id: OMIM:146110
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 PMID:29758562 More...
NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
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...252,959,512
Ensembl chr 1:252,945,557...252,959,352
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
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
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
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
G
Fgfr1
Fibroblast growth factor receptor 1
ISO
DNA:missense mutations, nonsense mutation:exon:multiple DNA:deletion:intron:c.2049-1G>C (human) DNA:nonsense mutation:exon:pR622X (1864C>T) (human) DNA:missense mutations:exon:p.L342S (c.1025T>C), p.R470L (c.1409G>T) (human) ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar RGD
PMID:12627230 PMID:16882753 PMID:17200176 PMID:25636053 PMID:25741868 PMID:28492532 PMID:32853167 PMID:33548149 PMID:16606836 PMID:20079901 PMID:17200176 PMID:17235395 More...
RGD:11567242 , RGD:11567244 , RGD:11567246 , RGD:11567265
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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
G
Gnrhr
gonadotropin releasing hormone receptor
ISO ISS
DNA:missense mutations: :p.Q106R, p.R262Q (human) CTD Direct Evidence: marker/mechanism OMIM:146110 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia | ClinVar Annotator: match by term: Isolated congenital hypogonadotropic hypogonadism
OMIM CTD MouseDO ClinVar RGD
PMID:7557974 PMID:9371856 PMID:9425890 PMID:9449676 PMID:10022417 PMID:10084584 PMID:10523035 PMID:10690855 PMID:10772899 PMID:10999776 PMID:11297587 PMID:11318785 PMID:11397842 PMID:11397871 PMID:11994356 PMID:12050282 PMID:12057744 PMID:12107234 PMID:12364481 PMID:12477532 PMID:12568864 PMID:12574221 PMID:12606630 PMID:12679486 PMID:12890567 PMID:15240592 PMID:15728205 PMID:16213849 PMID:16359986 PMID:16968799 PMID:17235395 PMID:19449676 PMID:20389088 PMID:20696889 PMID:21292259 PMID:21645587 PMID:21664240 PMID:21736917 PMID:22031817 PMID:22035731 PMID:22405597 PMID:22679506 PMID:22724017 PMID:22745237 PMID:22766261 PMID:22918878 PMID:23155690 PMID:23295295 PMID:23341491 PMID:23643382 PMID:23650335 PMID:24033266 PMID:24732674 PMID:25016926 PMID:25077900 PMID:25636053 PMID:25741868 PMID:25741905 PMID:26207952 PMID:26467025 PMID:26708526 PMID:27094476 PMID:27544332 PMID:27884859 PMID:28295047 PMID:28492532 PMID:28611058 PMID:29182666 PMID:30415482 PMID:30476149 PMID:32520725 PMID:32870266 PMID:33223529 PMID:33592857 PMID:33968656 PMID:17235395 More...
RGD:11567265
NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861
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 PMID:27535533 PMID:28492532 More...
NCBI chr 9:38,283,502...38,322,684
Ensembl chr 9:38,282,395...38,322,683
G
Mmut
methylmalonyl-CoA mutase
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:16281286 PMID:16490061 PMID:17075691 PMID:17445044 PMID:22727635 PMID:25741868 PMID:26454439 PMID:27233228 PMID:27489777 PMID:28492532 More...
NCBI chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046
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
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 PMID:34445196 PMID:35069422 PMID:35872528 More...
NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26045207 PMID:26204956 PMID:27029625 PMID:27512013 PMID:28492532 PMID:28589944 PMID:32319736 PMID:32345981 PMID:32870266 PMID:33726816 PMID:34440436 PMID:35316923 More...
NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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 PMID:27899157 PMID:28209183 PMID:28492532 PMID:28754744 PMID:29161432 PMID:31781422 PMID:33587123 PMID:34348883 PMID:36694982 More...
NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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
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 4:20,297,534...20,555,287
Ensembl chr 4:20,299,718...20,555,229
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
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
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
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
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 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all