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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 19 with or without anosmia
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Accession:DOID:0090090 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes. (DO)
Synonyms:exact_synonym: HH19
 primary_id: OMIM:615269
 alt_id: RDO:9000884
For additional species annotation, visit the Alliance of Genome Resources.


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hypogonadotropic hypogonadism 19 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp6 dual specificity phosphatase 6 ISO ClinVar Annotator: match by OMIM:615269
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 19 with or without anosmia
OMIM
ClinVar
PMID:23643382 PMID:25741868 NCBI chr 7:41,475,163...41,479,393
Ensembl chr 7:41,475,163...41,479,392
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      endocrine system disease 5000
        gonadal disease 917
          hypogonadism 119
            hypogonadotropic hypogonadism 38
              hypogonadotropic hypogonadism 19 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                hypogonadotropic hypogonadism 19 with or without anosmia 1
paths to the root