Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
 primary_id: MESH:C565696
 alt_id: OMIM:610628
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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
OMIM
PMID:17054399 PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 PMID:23643382 PMID:24423319 PMID:25741868 PMID:26467025 NCBI chr 4:132,157,556...132,171,244
Ensembl chr 4:132,157,556...132,171,153
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Kallmann syndrome 10
        hypogonadotropic hypogonadism 4 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        Congenital Abnormalities 4761
          Urogenital Abnormalities 255
            disorder of sexual development 151
              46, XY Disorders of Sex Development 41
                Kallmann syndrome 10
                  hypogonadotropic hypogonadism 4 with or without anosmia 1
paths to the root