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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 4 with or without anosmia
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Accession:DOID:0090077 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene. (DO)
Synonyms:exact_synonym: HH4;   Kallmann syndrome 4;   PROK2-RELATED CONDITION
 primary_id: MESH:C565696
 alt_id: OMIM:610628


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hypogonadotropic hypogonadism 4 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 4 with or without anosmia | ClinVar Annotator: match by term: PROK2-related condition OMIM
ClinVar		 PMID:17054399 PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 More... NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      Kallmann syndrome 33
        hypogonadotropic hypogonadism 4 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        Congenital Abnormalities 7581
          Urogenital Abnormalities 445
            disorder of sexual development 233
              46, XY Disorders of Sex Development 83
                Kallmann syndrome 33
                  hypogonadotropic hypogonadism 4 with or without anosmia 1
paths to the root