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ONTOLOGY REPORT - ANNOTATIONS


Term:Kallmann syndrome
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Accession:DOID:3614 term browser browse the term
Definition:A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
Synonyms:exact_synonym: De Morsier-Kallman's syndrome;   Dysplasia Olfactogenitalis of De Morsier;   HHA;   Hypogonadotropic Hypogonadism and Anosmia;   Hypogonadotropic Hypogonadism, Anosmia, and Midline Cranial Anomalies (Cleft Lip, Cleft Palate and Imperfect Fusion);   KMS;   Kallman syndrome;   Kallman's syndrome;   Kallmann's syndrome;   Kallmanns syndrome;   anosmic hypogonadism;   anosmic hypogonadisms;   anosmic idiopathic hypogonadotropic hypogonadism;   familial hypogonadism with anosmia;   hypogonadism with anosmia;   hypogonadotropic hypogonadism-anosmia syndrome
 narrow_synonym: autosomal dominant form of Kallmann syndrome;   autosomal recessive form of Kallmann syndrome
 primary_id: MESH:D017436
 xref: GARD:10771;   NCI:C75479;   ORDO:478
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Kallmann syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anos1 anosmin 1 RGD:11554173
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:8554872
RGD:11554173
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:8554872
RGD:11554173
G Prok2 prokineticin 2 JBrowse link 4 132,157,556 132,171,244 RGD:11554173
G Prokr2 prokineticin receptor 2 JBrowse link 3 125,006,180 125,021,020 RGD:11554173
G Sox10 SRY-box transcription factor 10 JBrowse link 7 120,393,238 120,403,523 RGD:12832748
RGD:13592920
G Sra1 steroid receptor RNA activator 1 JBrowse link 18 29,494,004 29,497,232 RGD:8554872
G Wdr11 WD repeat domain 11 JBrowse link 1 202,770,810 202,816,336 RGD:13592920
hypogonadotropic hypogonadism 1 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Anos1 anosmin 1 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 2 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 3 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prokr2 prokineticin receptor 2 JBrowse link 3 125,006,180 125,021,020 RGD:7240710
RGD:8554872
hypogonadotropic hypogonadism 4 with or without anosmia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prok2 prokineticin 2 JBrowse link 4 132,157,556 132,171,244 RGD:8554872
RGD:7240710
Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr1 Fibroblast growth factor receptor 1 JBrowse link 16 71,265,390 71,319,046 RGD:11567239
RGD:11567240
RGD:11567241
Kallmann Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chd7 chromodomain helicase DNA binding protein 7 JBrowse link 5 21,769,087 21,952,036 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      Kallmann syndrome 9
        Brachytelephalangy Characteristic Facies Kallmann 0
        Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant 1
        Kallmann Syndrome 5 1
        Kallmann Syndrome 6 0
        Spastic Paraplegia with Kallmann Syndrome 0
        hypogonadotropic hypogonadism 1 with or without anosmia 1
        hypogonadotropic hypogonadism 2 with or without anosmia + 1
        hypogonadotropic hypogonadism 3 with or without anosmia 1
        hypogonadotropic hypogonadism 4 with or without anosmia 1
Path 2
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        Congenital Abnormalities 4507
          Urogenital Abnormalities 235
            disorders of sexual development 151
              46, XY Disorders of Sex Development 40
                Kallmann syndrome 9
                  Brachytelephalangy Characteristic Facies Kallmann 0
                  Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant 1
                  Kallmann Syndrome 5 1
                  Kallmann Syndrome 6 0
                  Spastic Paraplegia with Kallmann Syndrome 0
                  hypogonadotropic hypogonadism 1 with or without anosmia 1
                  hypogonadotropic hypogonadism 2 with or without anosmia + 1
                  hypogonadotropic hypogonadism 3 with or without anosmia 1
                  hypogonadotropic hypogonadism 4 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.