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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 chr  X:5,163,638...5,363,835
NCBI chr  Y:3,807,032...4,014,112 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:18414213 PMID:18445044 PMID:21158681 PMID:22461308 PMID:24033266 More... NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Anosmic hypogonadism | ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724 		JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 NCBI chr 2:71,577,165...71,602,756
Ensembl chr 2:71,577,168...71,602,777 		JBrowse link
G POLR2F RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726 		JBrowse link
G PROK2 prokineticin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:53,169,040...53,184,695
Ensembl chr13:53,169,524...53,185,171 		JBrowse link
G PROKR2 prokineticin receptor 2 ISO ClinVar Annotator: match by term: Anosmic hypogonadism ClinVar PMID:17054399 PMID:18682503 PMID:18826963 PMID:20022991 PMID:22466334 More... NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307 		JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743 		JBrowse link
G SRA1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr 2:142,307,009...142,314,613
Ensembl chr 2:142,307,012...142,313,738 		JBrowse link
G TCF12 transcription factor 12 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar PMID:25741868 PMID:32629054 NCBI chr 1:114,682,299...115,056,363
Ensembl chr 1:114,682,303...115,056,262 		JBrowse link
G WDR11 WD repeat domain 11 ISO MouseDO NCBI chr14:130,618,924...130,674,536
Ensembl chr14:130,511,592...130,674,774 		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: ANOS1-related condition | 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 chr  X:5,163,638...5,363,835
NCBI chr  Y:3,807,032...4,014,112 		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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:47,523,768...47,601,722
Ensembl chr15:47,523,771...47,601,710 		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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,572,953...48,611,034
Ensembl chr15:48,573,197...48,610,668 		JBrowse link
G ADRB3 adrenoceptor beta 3 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,468,803...48,478,370
Ensembl chr15:48,475,144...48,479,562 		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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,386,426...48,417,560
Ensembl chr15:48,386,425...48,417,547 		JBrowse link
G BAG4 BAG cochaperone 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,299,456...48,348,810
Ensembl chr15:48,299,666...48,348,527 		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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,568,207...48,573,036
Ensembl chr15:48,568,202...48,573,029 		JBrowse link
G DDHD2 DDHD domain containing 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,239,932...48,292,413
Ensembl chr15:48,252,338...48,292,181 		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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,423,001...48,443,373
Ensembl chr15:48,422,816...48,443,399 		JBrowse link
G ERLIN2 ER lipid raft associated 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,643,722...48,662,648
Ensembl chr15:48,643,724...48,662,536 		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 | ClinVar Annotator: match by term: Kallmann syndrome 2 OMIM
ClinVar		 PMID:1456217 PMID:6881209 PMID:7795583 PMID:7874169 PMID:8948562 More... NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724 		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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,500,156...48,506,992
Ensembl chr15:48,499,964...48,507,010 		JBrowse link
G HTRA4 HtrA serine peptidase 4 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:47,610,580...47,625,889 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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,110,645...48,132,429
Ensembl chr15:48,110,652...48,131,991 		JBrowse link
G LSM1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,348,653...48,360,004
Ensembl chr15:48,348,648...48,365,106 		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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,119,132...48,245,673
Ensembl chr15:48,136,363...48,241,815 		JBrowse link
G PLEKHA2 pleckstrin homology domain containing A2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:47,626,107...47,697,238
Ensembl chr15:47,626,110...47,697,603 		JBrowse link
G PLPBP pyridoxal phosphate binding protein ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,624,790...48,636,584
Ensembl chr15:48,624,837...48,636,589 		JBrowse link
G PLPP5 phospholipid phosphatase 5 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,246,054...48,251,839
Ensembl chr15:48,246,029...48,252,196 		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 chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307 		JBrowse link
G RAB11FIP1 RAB11 family interacting protein 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,527,379...48,561,408 JBrowse link
G STAR steroidogenic acute regulatory protein ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:48,377,597...48,385,398
Ensembl chr15:48,377,521...48,385,462 		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:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:47,749,079...47,861,200 JBrowse link
G TM2D2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia ClinVar PMID:8948562 PMID:12627230 PMID:19489874 PMID:22249004 PMID:28492532 NCBI chr15:47,601,940...47,611,802
Ensembl chr15:47,601,616...47,611,804 		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 | ClinVar Annotator: match by term: Kallmann syndrome 3 OMIM
ClinVar		 PMID:1855992 PMID:2403109 PMID:4276467 PMID:8954047 PMID:11259612 More... NCBI chr17:14,243,738...14,257,346
Ensembl chr17:14,242,515...14,257,307 		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 | ClinVar Annotator: match by term: PROK2-related condition OMIM
ClinVar		 PMID:17054399 PMID:17959774 PMID:18285834 PMID:18559922 PMID:18682503 More... NCBI chr13:53,169,040...53,184,695
Ensembl chr13:53,169,524...53,185,171 		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:missense mutations, nonsense mutations:exon:multiple
DNA:frameshift mutation, missense mutations: :multiple
DNA:missense mutation, nonsense mutation:exon:p.S107X (320C>A), p.G687R (2059G>A) (human) 		RGD PMID:15845591 PMID:16764984 PMID:16882753 RGD:11567239 RGD:11567240 RGD:11567241 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,724 		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:22461308 PMID:25741868 More... NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146 		JBrowse link
Kallmann Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Kallmann syndrome 6 ClinVar PMID:22399515 PMID:23533228 PMID:25131394 PMID:25741868 PMID:26467025 More... NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    syndrome 9945
      Kallmann syndrome 33
        Brachytelephalangy Characteristic Facies Kallmann 0
        Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant 1
        Kallmann Syndrome 5 1
        Kallmann Syndrome 6 1
        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 15274
    Developmental Disease 13236
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12325
        Congenital Abnormalities 7329
          Urogenital Abnormalities 424
            disorder of sexual development 222
              46, XY Disorders of Sex Development 82
                Kallmann syndrome 33
                  Brachytelephalangy Characteristic Facies Kallmann 0
                  Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant 1
                  Kallmann Syndrome 5 1
                  Kallmann Syndrome 6 1
                  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