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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: OMIM:308700


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      Kallmann syndrome 33
        hypogonadotropic hypogonadism 1 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        Congenital Abnormalities 7452
          Urogenital Abnormalities 427
            disorder of sexual development 222
              46, XY Disorders of Sex Development 79
                Kallmann syndrome 33
                  hypogonadotropic hypogonadism 1 with or without anosmia 1
paths to the root