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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;   isolated FSH deficiency;   isolated follicle-stimulating hormone deficiency
 primary_id: MESH:C537070
 alt_id: OMIM:229070
 xref: ICD10CM:E23.6;   ORDO:52901
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:229070
ClinVar Annotator: match by term: isolated follicle-stimulating hormone deficiency
ClinVar Annotator: match by term: Follicle-stimulating hormone deficiency, isolated
OMIM
ClinVar
PMID:4344039, PMID:8220432, PMID:9271483, PMID:9280841, PMID:9624193, PMID:9806482, PMID:12161499, PMID:20488225, PMID:22791757, PMID:25052309, PMID:25741868, PMID:28392474, PMID:28492532 NCBI chr 3:98,088,321...98,092,131
Ensembl chr 3:98,088,324...98,092,131
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      reproductive system disease 2574
        male reproductive system disease 1773
          male infertility 176
            oligospermia 21
              hypogonadotropic hypogonadism 24 without anosmia 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Urogenital Diseases 4146
        Female Urogenital Diseases and Pregnancy Complications 1904
          Female Urogenital Diseases 1599
            female reproductive system disease 1595
              infertility 239
                male infertility 176
                  oligospermia 21
                    hypogonadotropic hypogonadism 24 without anosmia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.