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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 18 with or without anosmia
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Accession:DOID:0090076 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes. (DO)
Synonyms:exact_synonym: HH18
 narrow_synonym: hypogonadotropic hypogonadism 18 with anosmia
 primary_id: OMIM:615267
For additional species annotation, visit the Alliance of Genome Resources.


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hypogonadotropic hypogonadism 18 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17rd interleukin 17 receptor D ISO ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with or without anosmia		 OMIM
ClinVar		 PMID:23643382 PMID:25636053 PMID:25741868 NCBI chr16:2,228,467...2,295,126
Ensembl chr16:2,228,287...2,292,556 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      endocrine system disease 5840
        gonadal disease 1032
          hypogonadism 124
            hypogonadotropic hypogonadism 41
              hypogonadotropic hypogonadism 18 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal recessive disease 3496
                hypogonadotropic hypogonadism 18 with or without anosmia 1
paths to the root