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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

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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 term: Hypogonadotropic hypogonadism 17 with or without anosmia OMIM
ClinVar		 PMID:23643382 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32870266 NCBI chrNW_004955415:11,489,439...11,504,247 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6162
      Olfaction Disorders 24
        hypogonadotropic hypogonadism 17 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          monogenic disease 9439
            autosomal genetic disease 8757
              autosomal dominant disease 5744
                hypogonadotropic hypogonadism 17 with or without anosmia 1
paths to the root