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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 6 with or without anosmia
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Accession:DOID:0090086 term browser browse the term
Definition:A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene. (DO)
Synonyms:exact_synonym: HH6
 primary_id: MIM:612702



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hypogonadotropic hypogonadism 6 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 6 with or without anosmia OMIM
ClinVar
PMID:17360555 PMID:18596921 PMID:20463092 PMID:21045958 PMID:21832120 More... NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    disease of anatomical entity 18367
      endocrine system disease 6883
        gonadal disease 1224
          hypogonadism 206
            hypogonadotropic hypogonadism 67
              hypogonadotropic hypogonadism 6 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 19076
    Developmental Disease 14561
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13608
        genetic disease 13283
          monogenic disease 10664
            autosomal genetic disease 9837
              autosomal dominant disease 6521
                hypogonadotropic hypogonadism 6 with or without anosmia 1
paths to the root