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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;   HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO
 primary_id: OMIM:614880
 xref: ICD10CM:E23.0


show annotations for term's descendants           Sort by:
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 IAGP
EXP		 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with anosmia
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with or without anosmia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6881209 PMID:21700882 PMID:23643382 PMID:24033266 PMID:25077900 More... NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G LOC121725102 H3K4me1 hESC enhancer GRCh37_chr2:129028169-129028830 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with or without anosmia ClinVar PMID:25741868 NCBI chr 2:128,270,595...128,271,256 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9728
      Olfaction Disorders 32
        hypogonadotropic hypogonadism 15 with or without anosmia 2
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18509
            autosomal genetic disease 16779
              autosomal dominant disease 10884
                hypogonadotropic hypogonadism 15 with or without anosmia 2
paths to the root