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hypogonadotropic hypogonadism 12 with or without anosmia - Ontology Report - Rat Genome Database

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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 12 with or without anosmia
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Accession:DOID:0090072 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. (DO)
Synonyms:exact_synonym: FIGD;   HH12;   ISOLATED GNRH DEFICIENCY;   familial hypogonadotrophic eunuchoidism;   familial idiopathic gonadotropin deficiency;   familial idiopathic gonadotrpin deficiency
 primary_id: MESH:C535764
 alt_id: MIM:614841

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show annotations for term's descendants           Sort by:
hypogonadotropic hypogonadism 12 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Gnrh1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency OMIM
ClinVar		 PMID:19535795 PMID:19567835 PMID:25741868 PMID:26467025 PMID:26595427 More... NCBI chrNW_004624758:20,447,413...20,451,059
Ensembl chrNW_004624758:20,447,583...20,450,968 		JBrowse link
G G GNRH1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency OMIM
ClinVar		 PMID:19535795 PMID:19567835 PMID:25741868 PMID:26467025 PMID:26595427 More... NCBI chr 8:23,543,717...23,550,728
Ensembl chr 8:23,542,806...23,547,771 		JBrowse link
G P GNRH1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency OMIM
ClinVar		 PMID:19535795 PMID:19567835 PMID:25741868 PMID:26467025 PMID:26595427 More... NCBI chr14:9,442,971...9,447,521
Ensembl chr14:9,442,971...9,453,035 		JBrowse link
G S Gnrh1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency OMIM
ClinVar		 PMID:19535795 PMID:19567835 PMID:25741868 PMID:26467025 PMID:26595427 More... NCBI chrNW_004936757:1,282,185...1,285,804
Ensembl chrNW_004936757:1,282,185...1,285,832 		JBrowse link
G D GNRH1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency OMIM
ClinVar		 PMID:19535795 PMID:19567835 PMID:25741868 PMID:26467025 PMID:26595427 More... NCBI chr25:32,038,631...32,043,192
Ensembl chr25:32,039,613...32,043,028 		JBrowse link
G B GNRH1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency OMIM
ClinVar		 PMID:19535795 PMID:19567835 PMID:25741868 PMID:26467025 PMID:26595427 More... NCBI chr 8:24,700,268...24,707,332
Ensembl chr 8:21,609,407...21,615,936 		JBrowse link
G C Gnrh1 gonadotropin releasing hormone 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency OMIM
ClinVar		 PMID:19535795 PMID:19567835 PMID:25741868 PMID:26467025 PMID:26595427 More... NCBI chrNW_004955403:48,341,731...48,346,595
Ensembl chrNW_004955403:48,343,597...48,346,595 		JBrowse link
G R Gnrh1 gonadotropin releasing hormone 1 ISO
ISS		 DNA:missense mutation:cds:p.R31C (human)
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency
OMIM:614841
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutation, nonsense mutation, missense mutations:multiple (human)
DNA:frameshift mutation:cds:c.18-19insA (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:19535795 PMID:19567835 PMID:25741868 PMID:26467025 PMID:26595427 More... RGD:9685133, RGD:9685137, RGD:9685134 NCBI chr15:46,147,878...46,152,086
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581 		JBrowse link
G M Gnrh1 gonadotropin releasing hormone 1 ISO
IAGP		 DNA:missense mutation:cds:p.R31C (human)
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency
CTD Direct Evidence: marker/mechanism
OMIM:614841
DNA:frameshift mutation:cds:c.18-19insA (human)
DNA:frameshift mutation, nonsense mutation, missense mutations:multiple (human)		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:19535795 PMID:19567835 PMID:25741868 PMID:26467025 PMID:26595427 More... RGD:9685133, RGD:9685134, RGD:9685137 NCBI chr14:67,982,717...67,986,889
Ensembl chr14:67,982,630...67,986,888 		JBrowse link
G H GNRH1 gonadotropin releasing hormone 1 IAGP
ISS
EXP		 DNA:missense mutation:cds:p.R31C (human)
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency
OMIM:614841
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutation, nonsense mutation, missense mutations:multiple (human)
DNA:frameshift mutation:cds:c.18-19insA (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:19535795 PMID:19567835 PMID:25741868 PMID:26467025 PMID:26595427 More... RGD:9685133, RGD:9685137, RGD:9685134 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G N Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar PMID:9371856 PMID:11397871 PMID:12364481 PMID:12606630 PMID:15240592 More... NCBI chrNW_004624761:1,216,501...1,231,229
Ensembl chrNW_004624761:1,216,556...1,225,994 		JBrowse link
G G GNRHR gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar PMID:9371856 PMID:11397871 PMID:12364481 PMID:12606630 PMID:15240592 More... NCBI chr 7:1,205,294...1,225,105 JBrowse link
G S Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar PMID:9371856 PMID:11397871 PMID:12364481 PMID:12606630 PMID:15240592 More... NCBI chrNW_004936582:749,016...765,189
Ensembl chrNW_004936582:749,016...765,189 		JBrowse link
G D GNRHR gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar PMID:9371856 PMID:11397871 PMID:12364481 PMID:12606630 PMID:15240592 More... NCBI chr13:58,253,112...58,266,600
Ensembl chr13:58,253,027...58,266,705 		JBrowse link
G B GNRHR gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar PMID:9371856 PMID:11397871 PMID:12364481 PMID:12606630 PMID:15240592 More... NCBI chr 4:56,295,425...56,314,962
Ensembl chr 4:62,687,474...62,706,167 		JBrowse link
G R Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar PMID:9371856 PMID:11397871 PMID:12364481 PMID:12606630 PMID:15240592 More... NCBI chr14:22,211,666...22,229,654
Ensembl chr14:21,856,871...21,874,861 		JBrowse link
G M Gnrhr gonadotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar PMID:9371856 PMID:11397871 PMID:12364481 PMID:12606630 PMID:15240592 More... NCBI chr 5:86,328,613...86,345,760
Ensembl chr 5:86,328,613...86,345,760 		JBrowse link
G H GNRHR gonadotropin releasing hormone receptor IAGP ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar PMID:9371856 PMID:11397871 PMID:12364481 PMID:12606630 PMID:15240592 More... NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388 		JBrowse link
G N Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chrNW_004624830:4,635,987...4,704,251 JBrowse link
G G TACR3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr 7:51,662,248...51,764,058
Ensembl chr 7:51,665,147...51,762,390 		JBrowse link
G P TACR3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,613 		JBrowse link
G D TACR3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr32:24,812,344...24,888,452
Ensembl chr32:24,812,119...24,907,580 		JBrowse link
G B TACR3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr 4:96,022,788...96,162,249
Ensembl chr 4:106,644,943...106,776,172 		JBrowse link
G C Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chrNW_004955496:5,152,134...5,222,565
Ensembl chrNW_004955496:5,151,668...5,222,624 		JBrowse link
G R Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr 2:225,940,497...226,037,756
Ensembl chr 2:223,266,536...223,363,791 		JBrowse link
G M Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr 3:134,534,768...134,640,342
Ensembl chr 3:134,534,768...134,640,340 		JBrowse link
G H TACR3 tachykinin receptor 3 IAGP ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G H TACR3-AS1 TACR3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr 4:103,548,745...103,624,451
Ensembl chr 4:103,548,745...103,624,534 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      endocrine system disease 80498
        gonadal disease 14691
          hypogonadism 2112
            hypogonadotropic hypogonadism 691
              hypogonadotropic hypogonadism 12 with or without anosmia 28
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal recessive disease 73856
                hypogonadotropic hypogonadism 12 with or without anosmia 28
paths to the root