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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:A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones. (DO)
Synonyms:exact_synonym: eunuchoidism;   male hypogonadism
 primary_id: MESH:D005058
 xref: EFO:0007266
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
ISS
DNA:missense mutation:cds:p.R31C (human)
DNA:frameshift mutation:cds:c.18-19insA (human)
DNA:frameshift mutation, nonsense mutation, missense mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM:614841
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency
OMIM
CTD
MouseDO
ClinVar
RGD
PMID:19535795 PMID:19567835 PMID:25741868 PMID:26467025 PMID:26595427 More... RGD:9685133, RGD:9685134, RGD:9685137 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 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 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
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 term: Hypogonadotropic hypogonadism 23 with or without anosmia | ClinVar Annotator: match by term: LHB-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:429481 PMID:1727547 PMID:8979264 PMID:9457942 PMID:9694256 More... NCBI chr 1:105,037,457...105,038,446
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 19142
    disease of anatomical entity 18455
      endocrine system disease 7039
        gonadal disease 1392
          hypogonadism 212
            eunuchism 4
              hypogonadotropic hypogonadism 12 with or without anosmia 3
              hypogonadotropic hypogonadism 23 with or without anosmia 1
paths to the root