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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:Congenital Anosmia
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Accession:DOID:9000378 term browser browse the term
Synonyms:exact_synonym: ANIC;   Isolated congenital anosmia
 primary_id: MESH:C535983;   RDO:0001377
 alt_id: OMIM:107200
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Congenital Anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO RGD PMID:17898177 RGD:8662303 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
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
    Pathological Conditions, Signs and Symptoms 8735
      Signs and Symptoms 5235
        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.