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: ORDO:325448
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hypogonadotropic hypogonadism 23 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnrhr gonadotropin releasing hormone receptor JBrowse link 14 23,480,462 23,498,450 RGD:8554872
G Lhb luteinizing hormone beta polypeptide JBrowse link 1 101,409,992 101,413,725 RGD:7240710
RGD:8554872

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  disease 14875
    syndrome 4220
      hypogonadotropic hypogonadism 23 with or without anosmia 2
Path 2
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  disease 14875
    disease of anatomical entity 14051
      endocrine system disease 4668
        gonadal disease 808
          hypogonadism 117
            hypogonadotropic hypogonadism 37
              hypogonadotropic hypogonadism 23 with or without anosmia 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.