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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 13 with or without anosmia
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Accession:DOID:0090073 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32. (DO)
Synonyms:exact_synonym: HH13
 narrow_synonym: hypogonadotropic hypogonadism 13 without anosmia
 primary_id: OMIM:614842
For additional species annotation, visit the Alliance of Genome Resources.



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hypogonadotropic hypogonadism 13 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiss1 KiSS-1 metastasis-suppressor ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 13 with or without anosmia OMIM
ClinVar
PMID:22335740 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr13:44,774,823...44,780,707
Ensembl chr13:44,774,823...44,780,612
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      endocrine system disease 6295
        gonadal disease 1082
          hypogonadism 148
            hypogonadotropic hypogonadism 64
              hypogonadotropic hypogonadism 13 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                hypogonadotropic hypogonadism 13 with or without anosmia 1
paths to the root