Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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 17 with or without anosmia
go back to main search page
Accession:DOID:0090079 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes. (DO)
Synonyms:exact_synonym: HH17
 primary_id: OMIM:615266
 alt_id: RDO:9000881
 xref: ICD10CM:E23.0
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hypogonadotropic hypogonadism 17 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spry4 sprouty RTK signaling antagonist 4 ISO ClinVar Annotator: match by OMIM:615266
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 17 with or without anosmia
OMIM
ClinVar
PMID:23643382 PMID:24033266 PMID:28492532 NCBI chr18:32,593,370...32,609,890
Ensembl chr18:32,594,958...32,609,864
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      endocrine system disease 5789
        gonadal disease 1008
          hypogonadism 120
            hypogonadotropic hypogonadism 40
              hypogonadotropic hypogonadism 17 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9430
        genetic disease 8941
          monogenic disease 7120
            autosomal genetic disease 6275
              autosomal dominant disease 4449
                hypogonadotropic hypogonadism 17 with or without anosmia 1
paths to the root