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
Accession: DOID:3614
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 .
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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
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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 PMID:25077900 PMID:25741868 PMID:26467025 PMID:28475860 PMID:28492532 PMID:29304373 More...
NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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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
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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
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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
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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
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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
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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 PMID:22745195 PMID:24830383 PMID:25741868 PMID:28492532 PMID:29161432 PMID:31093944 PMID:32870266 More...
NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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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
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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
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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
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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
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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 PMID:9536098 PMID:9589672 PMID:9713559 PMID:11044805 PMID:11297579 PMID:12050219 PMID:12727945 PMID:15001591 PMID:16199547 PMID:16882753 PMID:17054399 PMID:17576681 PMID:21681106 PMID:23100014 PMID:23410897 PMID:23533228 PMID:23643382 PMID:25064402 PMID:25077900 PMID:25339597 PMID:25636053 PMID:25741868 PMID:26467025 PMID:27657687 PMID:28492532 PMID:28708303 PMID:32870266 More...
NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:10629055 PMID:10690855 PMID:10861678 PMID:10942429 PMID:11173846 PMID:12627230 PMID:14513299 PMID:14564217 PMID:14613973 PMID:15365636 PMID:15605412 PMID:15793702 PMID:16199547 PMID:16418210 PMID:16606836 PMID:16757108 PMID:16764984 PMID:16882753 PMID:16957473 PMID:17154279 PMID:17200176 PMID:17235395 PMID:17360555 PMID:17530415 PMID:17576681 PMID:17963255 PMID:18034870 PMID:18160472 PMID:18596921 PMID:18985070 PMID:19707180 PMID:19820032 PMID:20696889 PMID:21209029 PMID:21247312 PMID:21700882 PMID:22319038 PMID:22378383 PMID:23329143 PMID:23348397 PMID:23533228 PMID:23643382 PMID:23657145 PMID:23812909 PMID:24031091 PMID:24127277 PMID:24204987 PMID:24497711 PMID:24759409 PMID:25064402 PMID:25251565 PMID:25383892 PMID:25394172 PMID:25425165 PMID:25501157 PMID:25636053 PMID:25741868 PMID:25759380 PMID:26467025 PMID:26708526 PMID:26931467 PMID:26942290 PMID:27363716 PMID:27502037 PMID:27596331 PMID:27884173 PMID:28008864 PMID:28166811 PMID:28492532 PMID:28754744 PMID:28833369 PMID:29168297 PMID:31748124 PMID:31837199 PMID:33337535 PMID:33448156 PMID:33532864 PMID:35738466 More...
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:18826963 PMID:20022991 PMID:20696889 PMID:21858136 PMID:22466334 PMID:22927827 PMID:23386640 PMID:23533228 PMID:23596439 PMID:24031091 PMID:24276467 PMID:25741868 PMID:28492532 PMID:33227799 More...
NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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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
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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
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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
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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
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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 PMID:17054399 PMID:18559922 PMID:18682503 PMID:18723471 PMID:18826963 PMID:18985070 PMID:20022991 PMID:20502053 PMID:20696889 PMID:20981092 PMID:21209029 PMID:21247312 PMID:21858136 PMID:22035731 PMID:22319038 PMID:22399515 PMID:22466334 PMID:22745195 PMID:22773735 PMID:22927827 PMID:22995991 PMID:23082007 PMID:23200691 PMID:23386640 PMID:23533228 PMID:23596439 PMID:23643382 PMID:24031091 PMID:24204987 PMID:24276467 PMID:24753254 PMID:24830383 PMID:25531638 PMID:25636053 PMID:25678757 PMID:25741868 PMID:25759380 PMID:26031747 PMID:26467025 PMID:28492532 PMID:29161432 PMID:30311386 PMID:30430143 PMID:30773290 PMID:31093944 PMID:32870266 PMID:33227799 More...
NCBI chr 3:119,624,738...119,639,442
Ensembl chr 3:119,627,601...119,635,718
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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 PMID:23643382 PMID:24423319 PMID:25741868 PMID:26141714 PMID:26467025 PMID:28492532 PMID:31200363 More...
NCBI chr 4:132,346,681...132,361,754
Ensembl chr 4:132,347,103...132,361,385
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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
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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 PMID:29419413 PMID:30311386 More...
NCBI chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358
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