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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 11 with or without anosmia
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Accession:DOID:0090071 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24. (DO)
Synonyms:exact_synonym: HH11
 primary_id: OMIM:614840
For additional species annotation, visit the Alliance of Genome Resources.



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hypogonadotropic hypogonadism 11 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tacr3 tachykinin receptor 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia OMIM
ClinVar
PMID:18422838 PMID:19079066 PMID:20194706 PMID:20332248 PMID:21300340 More... NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18203
    sensory system disease 6476
      Olfaction Disorders 24
        hypogonadotropic hypogonadism 11 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 18203
    Developmental Disease 13119
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11888
        genetic disease 11398
          monogenic disease 8950
            autosomal genetic disease 7995
              autosomal recessive disease 4969
                hypogonadotropic hypogonadism 11 with or without anosmia 1
paths to the root