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hypogonadotropic hypogonadism 10 with or without anosmia - Ontology Report - Rat Genome Database

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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: MIM:614839

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show annotations for term's descendants           Sort by:
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 term: Hypogonadotropic hypogonadism 10 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 without anosmia OMIM
ClinVar		 PMID:19079066 PMID:20332248 PMID:25741868 NCBI chr 7:65,447,817...65,454,427
Ensembl chr 7:63,562,552...63,569,170 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    sensory system disease 7381
      Olfaction Disorders 22
        hypogonadotropic hypogonadism 10 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal recessive disease 7136
                hypogonadotropic hypogonadism 10 with or without anosmia 1
paths to the root