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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 1 with or without anosmia
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Accession:DOID:0090094 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene. (DO)
Synonyms:exact_synonym: ANOS1-RELATED CONDITION;   HH1;   KAL1;   Kallmann syndrome 1;   Kallmann syndrome type 1, X-linked;   hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
 primary_id: MIM:308700


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15721
    syndrome 10494
      Kallmann syndrome 34
        hypogonadotropic hypogonadism 1 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 15721
    Developmental Disease 13694
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12736
        Congenital Abnormalities 7659
          Urogenital Abnormalities 444
            disorder of sexual development 230
              46, XY Disorders of Sex Development 83
                Kallmann syndrome 34
                  hypogonadotropic hypogonadism 1 with or without anosmia 1
paths to the root