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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.



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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 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 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 ClinVar Annotator: match by OMIM:147950
ClinVar Annotator: match by term: Hypogonadism with anosmia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 NCBI chr16:66,492,445...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 CTD 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
ClinVar
MouseDO
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 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 (Kallmann syndrome 1)
ClinVar Annotator: match by term: Kallmann syndrome 1
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 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:9536098 PMID:10629055 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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: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 ClinVar
OMIM
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:16763960 PMID:18073582 PMID:18414213 PMID:18445044 PMID:18834967 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 17208
    syndrome 8125
      Kallmann syndrome 11
        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 17208
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
        Congenital Abnormalities 5589
          Urogenital Abnormalities 338
            disorder of sexual development 179
              46, XY Disorders of Sex Development 46
                Kallmann syndrome 11
                  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