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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
OMIM
ClinVar
PMID:12788881, PMID:12944565, PMID:17164310, PMID:18772143, PMID:23349759, PMID:23643382, PMID:30311386 NCBI chr 7:12,606,210...12,609,868
Ensembl chr 7:12,606,210...12,609,868
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      endocrine system disease 4987
        gonadal disease 901
          hypogonadism 120
            hypogonadotropic hypogonadism 40
              hypogonadotropic hypogonadism 8 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                hypogonadotropic hypogonadism 8 with or without anosmia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.