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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 17 with or without anosmia
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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.


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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      endocrine system disease 4991
        gonadal disease 901
          hypogonadism 120
            hypogonadotropic hypogonadism 40
              hypogonadotropic hypogonadism 17 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                hypogonadotropic hypogonadism 17 with or without anosmia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.