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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



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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 term: Hypogonadotropic hypogonadism 14 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with or without anosmia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:20887964 PMID:25741868 PMID:28492532 PMID:29263200 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 21120
    sensory system disease 6930
      Olfaction Disorders 24
        hypogonadotropic hypogonadism 14 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        genetic disease 18244
          monogenic disease 10306
            autosomal genetic disease 9457
              autosomal dominant disease 6212
                hypogonadotropic hypogonadism 14 with or without anosmia 1
paths to the root