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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:eunuchism
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Accession:DOID:5003 term browser browse the term
Definition:The state of being a eunuch, a male without TESTES or whose testes failed to develop. It is characterized by the lack of mature male GERM CELLS and TESTICULAR HORMONES.
Synonyms:exact_synonym: Eunuchoidism;   Hypogonadism, Male
 primary_id: MESH:D005058;   RDO:0001060
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 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
hypogonadotropic hypogonadism 23 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhb luteinizing hormone subunit beta ISO ClinVar Annotator: match by OMIM:228300
ClinVar Annotator: match by term: PASQUALINI SYNDROME
OMIM
ClinVar
PMID:429481 PMID:1727547 PMID:15602022 PMID:17761593 PMID:19126631 More... NCBI chr 1:95,898,269...95,901,973
Ensembl chr 1:95,900,984...95,901,972
Ensembl chr 1:95,900,984...95,901,972
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      endocrine system disease 5810
        gonadal disease 1019
          hypogonadism 121
            eunuchism 5
              hypogonadotropic hypogonadism 12 with or without anosmia 4
              hypogonadotropic hypogonadism 23 with or without anosmia 1
paths to the root