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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 20 with or without anosmia
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Accession:DOID:0090082 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes. (DO)
Synonyms:exact_synonym: HH20
 narrow_synonym: hypogonadotropic hypogonadism 20 without anosmia
 primary_id: OMIM:615270
 alt_id: RDO:9000885
For additional species annotation, visit the Alliance of Genome Resources.



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hypogonadotropic hypogonadism 20 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 without anosmia OMIM
ClinVar
PMID:6881209 PMID:21700882 PMID:23643382 NCBI chr15:45,711,901...45,717,063
Ensembl chr15:45,711,998...45,717,063
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      endocrine system disease 6220
        gonadal disease 1072
          hypogonadism 147
            hypogonadotropic hypogonadism 63
              hypogonadotropic hypogonadism 20 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                hypogonadotropic hypogonadism 20 with or without anosmia 1
paths to the root