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 16 with or without anosmia
go back to main search page
Accession:DOID:0090080 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes. (DO)
Synonyms:exact_synonym: HH16
 primary_id: OMIM:614897
 alt_id: RDO:9000815
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hypogonadotropic hypogonadism 16 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema3a semaphorin 3A ISO ClinVar Annotator: match by OMIM:614897
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia
ClinVar
OMIM
PMID:22416012 PMID:22927827 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:21,282,398...21,754,834
Ensembl chr 4:21,287,982...21,494,432
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      endocrine system disease 5810
        gonadal disease 1019
          hypogonadism 121
            hypogonadotropic hypogonadism 41
              hypogonadotropic hypogonadism 16 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
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                hypogonadotropic hypogonadism 16 with or without anosmia 1
paths to the root