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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


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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 term: Hypogonadotropic hypogonadism 10 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 without anosmia OMIM
ClinVar		 PMID:19079066 PMID:20332248 NCBI chr12:31,911,231...31,917,786
Ensembl chr12:32,164,278...32,170,834 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6624
      Olfaction Disorders 24
        hypogonadotropic hypogonadism 10 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10253
            autosomal genetic disease 9439
              autosomal recessive disease 6557
                hypogonadotropic hypogonadism 10 with or without anosmia 1
paths to the root