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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 3 with or without anosmia
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Accession:DOID:0090092 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene. (DO)
Synonyms:exact_synonym: HH3
 narrow_synonym: Kallmann syndrome 3;   Kallmann syndrome type 3, recessive;   hypogonadotropic hypogonadism 3 without anosmia
 primary_id: OMIM:244200
 alt_id: RDO:9003766
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Kallmann syndrome 11
        hypogonadotropic hypogonadism 3 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        Congenital Abnormalities 5588
          Urogenital Abnormalities 337
            disorder of sexual development 178
              46, XY Disorders of Sex Development 46
                Kallmann syndrome 11
                  hypogonadotropic hypogonadism 3 with or without anosmia 1
paths to the root