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ONTOLOGY REPORT - ANNOTATIONS


Term:hypogonadotropic hypogonadism 23 with or without anosmia
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Accession:DOID:0090091 term browser browse the term
Definition:A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: 46,XY DSD due to LHB deficiency;   46,XY DSD due to luteinizing hormone subunit beta deficiency;   46,XY disorder of sex development due to LHB deficiency;   46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency;   Fertile Eunuch Syndrome;   HH23;   HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA;   Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency;   PASQUALINI SYNDROME;   leydig cell hypoplasia due to LHB deficiency
 primary_id: MESH:C537919
 alt_id: OMIM:228300;   RDO:0003837
 xref: ICD10CM:Q56.1;   ORDO:325448
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hypogonadotropic hypogonadism 23 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lhb luteinizing hormone subunit beta JBrowse link 1 101,409,992 101,413,725 RGD:7240710
RGD:8554872

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  disease 15503
    syndrome 5771
      hypogonadotropic hypogonadism 23 with or without anosmia 1
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  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          monogenic disease 4811
            autosomal genetic disease 3787
              autosomal recessive disease 2159
                hypogonadotropic hypogonadism 23 with or 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.