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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
 xref: MIM:244200;   MONDO:0009482


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hypogonadotropic hypogonadism 3 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PROKR2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia | ClinVar Annotator: match by term: Kallmann syndrome 3 OMIM
ClinVar		 PMID:1855992 PMID:2403109 PMID:4276467 PMID:8954047 PMID:11259612 More... NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15390
    syndrome 10317
      Kallmann syndrome 34
        hypogonadotropic hypogonadism 3 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 15390
    Developmental Disease 13423
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12510
        Congenital Abnormalities 7518
          Urogenital Abnormalities 437
            disorder of sexual development 227
              46, XY Disorders of Sex Development 83
                Kallmann syndrome 34
                  hypogonadotropic hypogonadism 3 with or without anosmia 1
paths to the root