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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:Kallmann syndrome
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Accession:DOID:3614 term browser browse the term
Definition:A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia). (DO)
Synonyms:exact_synonym: De Morsier-Kallman's syndrome;   HHA;   Hypogonadotropic Hypogonadism and Anosmia;   KMS;   Kallman syndrome;   Kallman's syndrome;   Kallmann's syndrome;   Kallmanns syndrome;   anosmic hypogonadism;   anosmic hypogonadisms;   anosmic idiopathic hypogonadotropic hypogonadism;   dysplasia olfactogenitalis of De Morsier;   familial hypogonadism with anosmia;   hypogonadism with anosmia;   hypogonadotropic hypogonadism, anosmia, and midline cranial anomalies (cleft lip, cleft palate and imperfect fusion);   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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Kallmann syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anos1 anosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadism with anosmia		 CTD
ClinVar		 PMID:18414213 PMID:18445044 PMID:21158681 PMID:22461308 PMID:24033266 More... NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anosmic hypogonadism | ClinVar Annotator: match by term: Hypogonadism with anosmia		 CTD
ClinVar		 PMID:25741868 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234 		JBrowse link
G Prok2 prokineticin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadism with anosmia		 CTD
ClinVar		 PMID:17054399 PMID:18682503 PMID:18826963 PMID:20022991 PMID:22466334 More... NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO
ISS		 DNA:mutations:cds:
ClinVar Annotator: match by term: Hypogonadism with anosmia		 MouseDO
ClinVar
RGD		 PMID:23643381 RGD:12832748 NCBI chr 7:110,725,274...110,735,544
Ensembl chr 7:110,725,274...110,735,544 		JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr18:28,269,192...28,273,023
Ensembl chr18:28,269,311...28,272,538 		JBrowse link
G Tcf12 transcription factor 12 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 PMID:32629054 NCBI chr 8:72,490,447...72,799,265
Ensembl chr 8:72,492,567...72,799,201 		JBrowse link
G Wdr11 WD repeat domain 11 ISS MouseDO NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846 		JBrowse link
hypogonadotropic hypogonadism 1 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anos1 anosmin 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia OMIM
ClinVar		 PMID:1518845 PMID:1594017 PMID:1639422 PMID:1904396 PMID:8504298 More... NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801 		JBrowse link
hypogonadotropic hypogonadism 2 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917 		JBrowse link
G Adgra2 adhesion G protein-coupled receptor A2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,932,964...64,971,433
Ensembl chr16:64,933,315...64,971,483 		JBrowse link
G Adrb3 adrenoceptor beta 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552 		JBrowse link
G Ash2l ASH2 like histone lysine methyltransferase complex subunit ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,242,205...66,264,064
Ensembl chr16:66,242,212...66,264,061 		JBrowse link
G Bag4 BAG cochaperone 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,288,678...66,305,893
Ensembl chr16:66,288,678...66,308,663 		JBrowse link
G Brf2 BRF2, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,928,334...64,933,057
Ensembl chr16:64,928,300...64,933,059 		JBrowse link
G Ddhd2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,319,469...66,349,025
Ensembl chr16:66,319,466...66,349,023 		JBrowse link
G Eif4ebp1 eukaryotic translation initiation factor 4E binding protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984 		JBrowse link
G Erlin2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:65,017,654...65,034,184
Ensembl chr16:65,018,532...65,033,671 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia OMIM
ClinVar		 PMID:1456217 PMID:6881209 PMID:7795583 PMID:7874169 PMID:9536098 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Got1l1 glutamic-oxaloacetic transaminase 1-like 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,860,308...64,873,656
Ensembl chr16:64,860,704...64,866,162 		JBrowse link
G Htra4 HtrA serine peptidase 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:67,001,605...67,015,074
Ensembl chr16:67,001,605...67,015,074 		JBrowse link
G Letm2 leucine zipper and EF-hand containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,464,958...66,489,640
Ensembl chr16:66,469,111...66,489,704 		JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,277,345...66,288,852
Ensembl chr16:66,277,345...66,288,852 		JBrowse link
G Nsd3 nuclear receptor binding SET domain protein 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,354,030...66,466,202
Ensembl chr16:66,358,973...66,465,423 		JBrowse link
G Plekha2 pleckstrin homology domain containing A2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,938,684...67,000,661
Ensembl chr16:66,939,109...66,999,395 		JBrowse link
G Plpbp pyridoxal phosphate binding protein ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:65,003,292...65,014,886
Ensembl chr16:65,002,223...65,014,886 		JBrowse link
G Plpp5 phospholipid phosphatase 5 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,349,483...66,353,887
Ensembl chr16:66,349,502...66,464,797 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:4276467 PMID:8954047 PMID:11259612 PMID:17054399 PMID:18559922 More... NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718 		JBrowse link
G Rab11fip1 RAB11 family interacting protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:64,886,902...64,917,491
Ensembl chr16:64,884,676...64,917,491 		JBrowse link
G Star steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672 		JBrowse link
G Tacc1 transforming, acidic coiled-coil containing protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:66,812,232...66,895,736
Ensembl chr16:66,812,295...66,895,733 		JBrowse link
G Tm2d2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:28492532 NCBI chr16:67,016,683...67,022,206
Ensembl chr16:67,012,675...67,022,226 		JBrowse link
hypogonadotropic hypogonadism 3 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prokr2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia OMIM
ClinVar		 PMID:1855992 PMID:4276467 PMID:8954047 PMID:11259612 PMID:16537498 More... NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718 		JBrowse link
hypogonadotropic hypogonadism 4 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prok2 prokineticin 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 4 with or without anosmia OMIM
ClinVar		 PMID:17054399 PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 More... NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385 		JBrowse link
Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO DNA:frameshift mutation, missense mutations: :multiple
DNA:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human)
DNA:missense mutations, nonsense mutations:exon:multiple		 RGD PMID:16882753 PMID:15845591 PMID:16764984 RGD:11567239, RGD:11567240, RGD:11567241 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
Kallmann Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Kallmann syndrome 5 ClinVar PMID:9536098 PMID:17576681 PMID:18834967 PMID:25741868 PMID:28492532 More... NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      Kallmann syndrome 33
        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 + 23
        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 18256
    Developmental Disease 13110
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11866
        Congenital Abnormalities 6831
          Urogenital Abnormalities 390
            disorder of sexual development 216
              46, XY Disorders of Sex Development 69
                Kallmann syndrome 33
                  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 + 23
                  hypogonadotropic hypogonadism 3 with or without anosmia 1
                  hypogonadotropic hypogonadism 4 with or without anosmia 1
paths to the root