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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 18976
    disease of anatomical entity 18260
      reproductive system disease 3010
        male reproductive system disease 2012
          male infertility 310
            oligospermia 34
              hypogonadotropic hypogonadism 24 without anosmia 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Urogenital Diseases 5234
        Female Urogenital Diseases and Pregnancy Complications 2455
          Female Urogenital Diseases 2002
            female reproductive system disease 1999
              infertility 401
                male infertility 310
                  oligospermia 34
                    hypogonadotropic hypogonadism 24 without anosmia 1
paths to the root