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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 14 with or without anosmia
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Accession:DOID:0090087 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26. (DO)
Synonyms:exact_synonym: HH14
 narrow_synonym: HYPOGONADOTROPIC HYPOGONADISM 14 WITH ANOSMIA
 primary_id: OMIM:614858
 alt_id: RDO:9000149
For additional species annotation, visit the Alliance of Genome Resources.



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hypogonadotropic hypogonadism 14 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr11 WD repeat domain 11 ISO ClinVar Annotator: match by OMIM:614858
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with or without anosmia
OMIM
ClinVar
PMID:20887964 PMID:28492532 NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      endocrine system disease 5829
        gonadal disease 1030
          hypogonadism 124
            hypogonadotropic hypogonadism 41
              hypogonadotropic hypogonadism 14 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            autosomal genetic disease 6315
              autosomal dominant disease 4479
                hypogonadotropic hypogonadism 14 with or without anosmia 1
paths to the root