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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 7 with or without anosmia
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Accession:DOID:0090078 term browser 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.

show annotations for term's descendants           Sort by:
 
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 Ensembl chr10:70,999,780...71,000,627 JBrowse link
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 		JBrowse link
G Bbip1 BBSome interacting protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar NCBI chr 1:274,649,085...274,663,544
Ensembl chr 1:274,649,490...274,650,363 		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:28492532 NCBI chr 3:63,865,240...64,024,208
Ensembl chr 3:63,863,951...64,024,205 		JBrowse link
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 		JBrowse link
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 		JBrowse link
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 		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: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 		JBrowse link
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 		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		 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 		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 PMID:28492532 NCBI chr 9:42,620,006...42,659,184
Ensembl chr 9:42,620,006...42,659,184 		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 3:2,262,173...2,270,996
Ensembl chr 3:2,262,253...2,270,995 		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 chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904 		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: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 		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 3:125,006,180...125,021,020
Ensembl chr 3:125,009,260...125,017,377 		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 chr12:13,508,429...13,631,689
Ensembl chr12:13,508,429...13,632,304 		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 4:17,314,745...17,594,659
Ensembl chr 4:17,272,511...17,594,598 		JBrowse link
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 		JBrowse link
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 		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 7:71,023,976...71,030,582
Ensembl chr 7:71,023,976...71,030,582 		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 2:240,021,152...240,118,971
Ensembl chr 2:240,021,152...240,118,971 		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 1:202,770,810...202,816,336
Ensembl chr 1:202,770,775...202,816,334 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      endocrine system disease 4995
        gonadal disease 915
          hypogonadism 119
            hypogonadotropic hypogonadism 38
              hypogonadotropic hypogonadism 7 with or without anosmia 22
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                hypogonadotropic hypogonadism 7 with or without anosmia 22
paths to the root