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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:8504298 PMID:11297579 PMID:23643382 PMID:25636053 PMID:28492532 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: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
RGD		 PMID:12627230 PMID:16882753 PMID:17200176 PMID:25636053 PMID:25741868 More... RGD:11567242, RGD:11567244, RGD:11567246, RGD:11567265 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
DNA:missense mutations: :p.Q106R, p.R262Q (human)		 OMIM
ClinVar
RGD		 PMID:7557974 PMID:9371856 PMID:9425890 PMID:10022417 PMID:10084584 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 PMID:28492532 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      endocrine system disease 6220
        gonadal disease 1072
          hypogonadism 147
            hypogonadotropic hypogonadism 63
              hypogonadotropic hypogonadism 7 with or without anosmia 22
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                hypogonadotropic hypogonadism 7 with or without anosmia 22
paths to the root