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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 24 without anosmia
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Accession:DOID:0090088 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14. (DO)
Synonyms:exact_synonym: HH24;   hypogonadotropic hypogonadism 24 with or without anosmia;   isolated FSH deficiency;   isolated follicle-stimulating hormone deficiency
 primary_id: MESH:C537070
 alt_id: OMIM:229070
 xref: ICD10CM:E23.6;   ORDO:52901


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hypogonadotropic hypogonadism 24 without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fshb follicle stimulating hormone subunit beta ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 24 without anosmia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4344039 PMID:8220432 PMID:9271483 PMID:9280841 PMID:9624193 More... NCBI chr 3:93,548,560...93,552,370
Ensembl chr 3:93,548,560...93,552,370 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      reproductive system disease 2961
        male reproductive system disease 1968
          male infertility 258
            oligospermia 30
              hypogonadotropic hypogonadism 24 without anosmia 1
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      Urogenital Diseases 5119
        Female Urogenital Diseases and Pregnancy Complications 2366
          Female Urogenital Diseases 1950
            female reproductive system disease 1947
              infertility 348
                male infertility 258
                  oligospermia 30
                    hypogonadotropic hypogonadism 24 without anosmia 1
paths to the root