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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: OMIM:614841
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
RGD
PMID:19535795 PMID:19567835 PMID:26467025 PMID:28492532 PMID:23936060 More... RGD:9685133, RGD:9685134, RGD:9685137 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: Isolated GnRH Deficiency ClinVar PMID:9371856 PMID:11397871 PMID:12364481 PMID:12606630 PMID:15240592 More... NCBI chr14:21,856,871...21,874,861
Ensembl chr14:21,856,871...21,874,861
JBrowse link
G Kctd9 potassium channel tetramerization domain containing 9 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr15:41,942,165...41,969,862
Ensembl chr15:41,942,381...41,969,862
JBrowse link
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Isolated GnRH Deficiency ClinVar NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      endocrine system disease 5841
        gonadal disease 1032
          hypogonadism 123
            hypogonadotropic hypogonadism 41
              hypogonadotropic hypogonadism 12 with or without anosmia 4
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          monogenic disease 7190
            autosomal genetic disease 6338
              autosomal recessive disease 3497
                hypogonadotropic hypogonadism 12 with or without anosmia 4
paths to the root