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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;   Gonadotropin deficiency, familial idiopathic;   HH12;   ISOLATED GNRH DEFICIENCY;   familial hypogonadotrophic eunuchoidism;   familial idiopathic gonadotrpin deficiency
 primary_id: MESH:C535764
 alt_id: OMIM:614841;   RDO:0001059;   RDO:9000147
For additional species annotation, visit the Alliance of Genome Resources.


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hypogonadotropic hypogonadism 12 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnrh1 gonadotropin releasing hormone 1 ISO 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
DNA:frameshift mutation:cds:c.18-19insA (human)
DNA:frameshift mutation, nonsense mutation, missense mutations:multiple (human)
ClinVar
OMIM
PMID:19535795, PMID:19567835, PMID:26467025, PMID:28492532, PMID:23936060, PMID:19535795, PMID:19567835 RGD:9685133, RGD:9685134, RGD:9685137 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: Isolated GnRH Deficiency ClinVar PMID:9371856, PMID:11397871, PMID:12364481, PMID:12606630, PMID:15240592, PMID:15728205, PMID:16213849, PMID:17161329, PMID:20389088, PMID:20696889, PMID:22745237, PMID:22766261, PMID:23295295, PMID:23341491, PMID:23643382, PMID:25016926 NCBI chr14:23,480,462...23,498,450
Ensembl chr14:23,480,462...23,498,450
JBrowse link
G Kctd9 potassium channel tetramerization domain containing 9 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr15:44,411,591...44,439,645
Ensembl chr15:44,411,865...44,439,236
JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr 2:240,021,152...240,118,971
Ensembl chr 2:240,021,152...240,118,971
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      endocrine system disease 4988
        gonadal disease 902
          hypogonadism 122
            hypogonadotropic hypogonadism 40
              hypogonadotropic hypogonadism 12 with or without anosmia 4
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                hypogonadotropic hypogonadism 12 with or without anosmia 4
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.