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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


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:25741868 PMID:31883645 NCBI chr 8:103,047,783...103,094,800
Ensembl chr 8:102,996,281...103,088,230 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15275
    sensory system disease 6529
      Olfaction Disorders 23
        Anosmia 5
          Congenital Anosmia 2
            Hypogonadotropic Hypogonadism 25 with Anosmia 1
Path 2
Term Annotations click to browse term
  disease 15275
    disease of anatomical entity 14909
      nervous system disease 12991
        Neurologic Manifestations 9430
          sensory system disease 6529
            Olfaction Disorders 23
              Anosmia 5
                Congenital Anosmia 2
                  Hypogonadotropic Hypogonadism 25 with Anosmia 1
paths to the root