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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 10 with or without anosmia
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Accession:DOID:0090089 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: HH10
 narrow_synonym: hypogonadotropic hypogonadism 10 without anosmia
 primary_id: OMIM:614839
For additional species annotation, visit the Alliance of Genome Resources.



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hypogonadotropic hypogonadism 10 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tac3 tachykinin precursor 3 ISO ClinVar Annotator: match by OMIM:614839
ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA
OMIM
ClinVar
PMID:19079066 PMID:20332248 NCBI chr 7:63,562,552...63,569,170
Ensembl chr 7:63,562,552...63,569,170
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      endocrine system disease 5840
        gonadal disease 1032
          hypogonadism 124
            hypogonadotropic hypogonadism 41
              hypogonadotropic hypogonadism 10 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal recessive disease 3496
                hypogonadotropic hypogonadism 10 with or without anosmia 1
paths to the root