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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 Ensembl chr10:70,999,780...71,000,627 JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by OMIM:612370
ClinVar Annotator: match by term: Kallmann Syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:18414213, PMID:18445044, PMID:21158681, PMID:22461308, PMID:24033266, PMID:25077900, PMID:25741868, PMID:26467025, PMID:28475860, PMID:28492532, PMID:29304373 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by OMIM:147950
ClinVar Annotator: match by term: Hypogonadism with anosmia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:25741868 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449 		JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954 		JBrowse link
G Prok2 prokineticin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:132,157,556...132,171,244
Ensembl chr 4:132,157,556...132,171,153 		JBrowse link
G Prokr2 prokineticin receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:125,006,180...125,021,020
Ensembl chr 3:125,009,260...125,017,377 		JBrowse link
G Sox10 SRY-box transcription factor 10 ISO
ISS		 DNA:mutations:cds:
ClinVar Annotator: match by term: Hypogonadism with anosmia		 ClinVar
MouseDO		 PMID:23643381 RGD:12832748 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523 		JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Hypogonadism with anosmia ClinVar NCBI chr18:29,494,004...29,497,232
Ensembl chr18:29,494,014...29,497,410 		JBrowse link
G Wdr11 WD repeat domain 11 ISS MouseDO NCBI chr 1:202,770,810...202,816,336
Ensembl chr 1:202,770,775...202,816,334 		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
ClinVar Annotator: match by term: Kallmann syndrome 1
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)		 OMIM
ClinVar		 PMID:1518845, PMID:1594017, PMID:1639422, PMID:1904396, PMID:8504298, PMID:9589672, PMID:9713559, PMID:11297579, PMID:12050219, PMID:12727945, PMID:15605412, PMID:16882753, PMID:17054399, PMID:21681106, PMID:21717404, PMID:22035731, PMID:23100014, PMID:23410897, PMID:23533228, PMID:23643382, PMID:23849776, PMID:25339597, PMID:25741868, PMID:26708526, PMID:26862482, PMID:27657687, PMID:28295047, PMID:28492532, PMID:28566479, PMID:28708303 Ensembl chr10:70,999,780...71,000,627 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 Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia
ClinVar Annotator: match by term: Kallmann syndrome 2
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with anosmia
ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO		 OMIM
ClinVar		 PMID:6881209, PMID:7795583, PMID:7874169, 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:16418210, PMID:16606836, PMID:16764984, PMID:16882753, PMID:16957473, PMID:17154279, PMID:17200176, PMID:17235395, PMID:17360555, PMID:17963255, PMID:18160472, PMID:18596921, PMID:18985070, PMID:19707180, PMID:19820032, PMID:20696889, PMID:21700882, PMID:22378383, PMID:23329143, PMID:23533228, PMID:23643382, PMID:23657145, PMID:24127277, PMID:24204987, PMID:24497711, PMID:24759409, PMID:25064402, PMID:25251565, PMID:25383892, PMID:25394172, PMID:25425165, PMID:25636053, PMID:25741868, PMID:25759380, PMID:26467025, PMID:26708526, PMID:26931467, PMID:27502037, PMID:28008864, PMID:28492532, PMID:28754744 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449 		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: Kallmann syndrome 3
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 3 without anosmia		 OMIM
ClinVar		 PMID:1855992, PMID:4276467, PMID:8954047, PMID:11259612, PMID:17054399, PMID:18559922, PMID:18682503, PMID:18723471, PMID:18826963, PMID:20022991, 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:24276467, PMID:24753254, PMID:24830383, PMID:25226293, PMID:25678757, PMID:25741868, PMID:25759380, PMID:26031747, PMID:26467025, PMID:27168972, PMID:28492532, PMID:30311386 NCBI chr 3:125,006,180...125,021,020
Ensembl chr 3:125,009,260...125,017,377 		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
OMIM		 PMID:17054399, PMID:17959774, PMID:18285834, PMID:18559922, PMID:18682503, PMID:23643382, PMID:24423319, PMID:25741868, PMID:26467025, PMID:30311386 NCBI chr 4:132,157,556...132,171,244
Ensembl chr 4:132,157,556...132,171,153 		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 chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449 		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:16763960, PMID:18073582, PMID:18414213, PMID:18445044, PMID:18834967, PMID:21158681, PMID:21995344, PMID:22033296, PMID:22461308, PMID:22539353, PMID:23378218, PMID:23533228, PMID:24033266, PMID:24862881, PMID:25077900, PMID:25107291, PMID:25741868, PMID:25931334, PMID:26467025, PMID:28492532, PMID:29255181, PMID:30311386, PMID:31042289 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Kallmann syndrome 10
        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 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Urogenital Abnormalities 285
            disorder of sexual development 181
              46, XY Disorders of Sex Development 42
                Kallmann syndrome 10
                  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
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.