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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;   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 Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:9887333, PMID:10330348, PMID:10817650, PMID:10980530, PMID:12810666, PMID:15390180, PMID:16266405, PMID:20153123, PMID:22585167, PMID:25614872, PMID:25741868, PMID:26506520, PMID:27159176, PMID:28492532, PMID:30311386 NCBI chr 8:58,015,938...58,119,973
Ensembl chr 8:58,015,940...58,120,045
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:30311386, 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 Flrt3 fibronectin leucine rich transmembrane protein 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:134,684,446...134,696,586
Ensembl chr 3:134,683,065...134,696,654
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 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:30311386, 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:24033266, PMID:25636053, PMID:28492532 NCBI chr 9:42,620,006...42,659,184
Ensembl chr 9:42,620,006...42,659,184
JBrowse link
G Il17rd interleukin 17 receptor D ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:2,670,471...2,737,271
Ensembl chr16:2,670,618...2,731,808
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia
CTD
ClinVar
PMID:22036172, PMID:23355746, PMID:25133958, PMID:25339210, PMID:25741868, PMID:26204956, PMID:27512013, PMID:30311386 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 RGD1311251 similar to RIKEN cDNA 4930550C14 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia ClinVar PMID:9887333, PMID:10330348, PMID:10817650, PMID:10980530, PMID:12810666, PMID:15390180, PMID:16266405, PMID:20153123, PMID:22585167, PMID:25614872, PMID:25741868, PMID:26506520, PMID:27159176, PMID:28492532, PMID:30311386 NCBI chr 8:57,983,168...58,012,474
Ensembl chr 8:57,983,556...58,011,962
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 CTD 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:30311386 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 16096
    disease of anatomical entity 15346
      endocrine system disease 4987
        gonadal disease 902
          hypogonadism 122
            hypogonadotropic hypogonadism 40
              hypogonadotropic hypogonadism 7 with or without anosmia 26
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5628
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                hypogonadotropic hypogonadism 7 with or without anosmia 26
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.