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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 8 with or without anosmia
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Accession:DOID:0090074 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes. (DO)
Synonyms:exact_synonym: HH8
 narrow_synonym: hypogonadotropic hypogonadism 8 without anosmia
 primary_id: OMIM:614837
 alt_id: RDO:9000143
For additional species annotation, visit the Alliance of Genome Resources.


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hypogonadotropic hypogonadism 8 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiss1r KISS1 receptor ISO ClinVar Annotator: match by OMIM:614837
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmia
OMIM
ClinVar
PMID:12788881 PMID:12944565 PMID:17164310 PMID:18772143 PMID:20371656 More... NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      endocrine system disease 5808
        gonadal disease 1021
          hypogonadism 121
            hypogonadotropic hypogonadism 41
              hypogonadotropic hypogonadism 8 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal recessive disease 3443
                hypogonadotropic hypogonadism 8 with or without anosmia 1
paths to the root