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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 16 with or without anosmia
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Accession:DOID:0090080 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes. (DO)
Synonyms:exact_synonym: HH16
 primary_id: OMIM:614897
For additional species annotation, visit the Alliance of Genome Resources.



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hypogonadotropic hypogonadism 16 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema3a semaphorin 3A ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia OMIM
ClinVar
PMID:22416012 PMID:22927827 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 4:21,282,398...21,754,834
Ensembl chr 4:21,287,982...21,494,432
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      endocrine system disease 6249
        gonadal disease 1079
          hypogonadism 148
            hypogonadotropic hypogonadism 64
              hypogonadotropic hypogonadism 16 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal dominant disease 5080
                hypogonadotropic hypogonadism 16 with or without anosmia 1
paths to the root