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
For additional species annotation, visit the
Alliance of Genome Resources .
G
Anos1
anosmin 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:25636053
Ensembl chr10:70,999,780...71,000,627
G
Axl
Axl receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:82,550,892...82,580,761
Ensembl chr 1:82,549,420...82,580,761
G
Bbip1
BBSome interacting protein 1
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
NCBI chr 1:274,649,085...274,663,544
Ensembl chr 1:274,649,490...274,650,363
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:28492532
NCBI chr 3:63,865,240...64,024,208
Ensembl chr 3:63,863,951...64,024,205
G
Dusp6
dual specificity phosphatase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:41,475,163...41,479,393
Ensembl chr 7:41,475,163...41,479,392
G
Fezf1
Fez family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 4:50,309,281...50,312,608
Ensembl chr 4:50,309,281...50,312,608
G
Fgf17
fibroblast growth factor 17
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr15:52,326,758...52,337,360
Ensembl chr15:52,326,778...52,332,097
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: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
PMID:12627230 PMID:16882753 PMID:17200176 PMID:25636053 PMID:25741868 , PMID:16606836 , PMID:20079901 , PMID:17200176 , PMID:17235395
RGD:11567242 , RGD:11567244 , RGD:11567246 , RGD:11567265
NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
G
Gnrh1
gonadotropin releasing hormone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19535795
NCBI chr15:44,441,856...44,446,064
Ensembl chr15:44,442,555...44,442,875 Ensembl chr15:44,442,555...44,442,875
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
PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 PMID:10523035 PMID:10690855 PMID:10772899 PMID:10999776 PMID:11318785 PMID:11397842 PMID:11397871 PMID:11994356 PMID:12050282 PMID:12057744 PMID:12364481 PMID:12568864 PMID:12574221 PMID:12606630 PMID:12679486 PMID:15240592 PMID:15728205 PMID:16213849 PMID:16359986 PMID:16968799 PMID:17235395 PMID:20389088 PMID:20696889 PMID:21645587 PMID:21736917 PMID:22405597 PMID:22679506 PMID:22724017 PMID:22745237 PMID:22766261 PMID:23155690 PMID:23295295 PMID:23341491 PMID:23643382 PMID:24033266 PMID:24732674 PMID:25016926 PMID:25636053 PMID:25741868 PMID:26207952 PMID:26467025 PMID:27884859 PMID:28492532 PMID:28611058 PMID:29182666 PMID:33223529 , PMID:17235395
RGD:11567265
NCBI chr14:23,480,462...23,498,450
Ensembl chr14:23,480,462...23,498,450
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:28492532
NCBI chr 9:42,620,006...42,659,184
Ensembl chr 9:42,620,006...42,659,184
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 3:2,262,173...2,270,996
Ensembl chr 3:2,262,253...2,270,995
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 chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
G
Polr3b
RNA polymerase III subunit B
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:22036172 PMID:23355746 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26204956 PMID:27512013
NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227
G
Prokr2
prokineticin receptor 2
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:25636053
NCBI chr 3:125,006,180...125,021,020
Ensembl chr 3:125,009,260...125,017,377
G
Rnf216
ring finger protein 216
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:25558065
NCBI chr12:13,508,429...13,631,689
Ensembl chr12:13,508,429...13,632,304
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
NCBI chr 4:17,314,745...17,594,659
Ensembl chr 4:17,272,511...17,594,598
G
Spry4
sprouty RTK signaling antagonist 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr18:32,593,370...32,609,890
Ensembl chr18:32,594,958...32,609,864
G
Sra1
steroid receptor RNA activator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr18:29,494,004...29,497,232
Ensembl chr18:29,494,014...29,497,410
G
Tac3
tachykinin precursor 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:25636053
NCBI chr 7:71,023,976...71,030,582
Ensembl chr 7:71,023,976...71,030,582
G
Tacr3
tachykinin receptor 3
ISO
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
ClinVar
PMID:25636053
NCBI chr 2:240,021,152...240,118,971
Ensembl chr 2:240,021,152...240,118,971
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 1:202,770,810...202,816,336
Ensembl chr 1:202,770,775...202,816,334
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all