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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 15 with or without anosmia
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Accession:DOID:0090075 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes. (DO)
Synonyms:exact_synonym: HH15
 narrow_synonym: hypogonadotropic hypogonadism 15 with anosmia
 related_synonym: HYPOGONADOTROPIC HYPOGONADISM 15 WITH ANOSMIA, SUSCEPTIBILITY TO
 primary_id: OMIM:614880
 xref: ICD10CM:E23.0
For additional species annotation, visit the Alliance of Genome Resources.


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hypogonadotropic hypogonadism 15 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hs6st1 heparan sulfate 6-O-sulfotransferase 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with anosmia
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with or without anosmia
OMIM
ClinVar
PMID:6881209 PMID:21700882 PMID:23643382 PMID:24033266 PMID:25636053 PMID:25741868 NCBI chr 9:42,620,006...42,659,184
Ensembl chr 9:42,620,006...42,659,184
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      endocrine system disease 5010
        gonadal disease 917
          hypogonadism 119
            hypogonadotropic hypogonadism 38
              hypogonadotropic hypogonadism 15 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal dominant disease 3160
                hypogonadotropic hypogonadism 15 with or without anosmia 1
paths to the root