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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 25 with Anosmia
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Accession:DOID:9001845 term browser browse the term
Synonyms:exact_synonym: HH25
 primary_id: OMIM:618841
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hypogonadotropic Hypogonadism 25 with Anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndnf neuron-derived neurotrophic factor ISO ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA OMIM
ClinVar
PMID:31883645 NCBI chr 4:96,528,830...96,565,780 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      endocrine system disease 4991
        gonadal disease 901
          hypogonadism 120
            hypogonadotropic hypogonadism 40
              Hypogonadotropic Hypogonadism 25 with Anosmia 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        Neurologic Manifestations 4188
          Sensation Disorders 1019
            Olfaction Disorders 22
              Congenital Anosmia 2
                Hypogonadotropic Hypogonadism 25 with Anosmia 1
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.