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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:Olfaction Disorders
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Accession:DOID:9004042 term browser browse the term
Definition:Loss of or impaired ability to smell. This may be caused by OLFACTORY NERVE DISEASES; PARANASAL SINUS DISEASES; viral RESPIRATORY TRACT INFECTIONS; CRANIOCEREBRAL TRAUMA; SMOKING; and other conditions.
Synonyms:exact_synonym: Anosmia;   Cacosmia;   Cacosmias;   Dysosmia;   Dysosmias;   Olfaction Disorder;   Paraosmia;   Paraosmias;   Smell Disorder;   Smell Disorders
 primary_id: MESH:D000857;   RDO:0001237
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Olfaction Disorders term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LPAR1 lysophosphatidic acid receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11087877 NCBI chr 9:110,873,252...111,038,998
Ensembl chr 9:110,873,263...111,038,458
JBrowse link
G POLR2F RNA polymerase II, I and III subunit F IAGP ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chr22:37,953,663...38,041,915
Ensembl chr22:37,952,607...38,041,915
JBrowse link
G SERPINF1 serpin family F member 1 ISO mRNA:decreased expression:olfactory bulb (rat) RGD PMID:23825416 RGD:8655547 NCBI chr17:1,762,060...1,777,565
Ensembl chr17:1,762,029...1,777,565
JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP ClinVar Annotator: match by term: Anosmia ClinVar PMID:8723126, PMID:28067909 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,738...2,805,017
Ensembl chr18:2,655,738...2,805,017
JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
JBrowse link
Congenital Anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP290 centrosomal protein 290 ISO RGD PMID:17898177 RGD:8662303 NCBI chr12:88,049,013...88,142,216
Ensembl chr12:88,049,016...88,142,099
Ensembl chr12:88,049,016...88,142,099
JBrowse link
hypogonadotropic hypogonadism 10 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAC3 tachykinin precursor 3 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 without anosmia
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 with or without anosmia
ClinVar
OMIM
PMID:19079066, PMID:20332248 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883
JBrowse link
hypogonadotropic hypogonadism 11 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TACR3 tachykinin receptor 3 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia ClinVar
OMIM
PMID:18422838, PMID:19079066, PMID:20332248, PMID:21300340, PMID:22031817, PMID:22035731, PMID:23329188, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985
JBrowse link
hypogonadotropic hypogonadism 13 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KISS1 KiSS-1 metastasis suppressor IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 13 with or without anosmia ClinVar
OMIM
PMID:22335740, PMID:28492532 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491
JBrowse link
hypogonadotropic hypogonadism 14 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WDR11 WD repeat domain 11 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with or without anosmia
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with anosmia
ClinVar
OMIM
PMID:20887964, PMID:28492532 NCBI chr10:120,851,313...120,909,525
Ensembl chr10:120,851,305...120,909,524
JBrowse link
hypogonadotropic hypogonadism 15 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with or without anosmia
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with anosmia
OMIM
ClinVar
PMID:6881209, PMID:21700882, PMID:23643382, PMID:24033266, PMID:25636053, PMID:25741868 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868
JBrowse link
hypogonadotropic hypogonadism 16 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEMA3A semaphorin 3A IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia ClinVar
OMIM
PMID:22416012, PMID:22927827, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 7:83,955,777...84,515,189
Ensembl chr 7:83,955,777...84,492,724
JBrowse link
hypogonadotropic hypogonadism 17 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPRY4 sprouty RTK signaling antagonist 4 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 17 with or without anosmia ClinVar
OMIM
PMID:23643382, PMID:24033266, PMID:28492532 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455
JBrowse link
hypogonadotropic hypogonadism 18 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL17RD interleukin 17 receptor D IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with anosmia ClinVar
OMIM
PMID:23643382, PMID:25636053 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
JBrowse link
hypogonadotropic hypogonadism 19 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DUSP6 dual specificity phosphatase 6 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 19 with or without anosmia ClinVar
OMIM
PMID:23643382, PMID:30311386 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
JBrowse link
hypogonadotropic hypogonadism 20 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF17 fibroblast growth factor 17 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 with or without anosmia
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 without anosmia
ClinVar
OMIM
PMID:6881209, PMID:21700882, PMID:23643382 NCBI chr 8:22,039,708...22,048,809
Ensembl chr 8:22,042,398...22,048,809
JBrowse link
hypogonadotropic hypogonadism 21 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLRT3 fibronectin leucine rich transmembrane protein 3 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia ClinVar
OMIM
PMID:23643382 NCBI chr20:14,322,985...14,337,847
Ensembl chr20:14,322,985...14,337,614
JBrowse link
G MACROD2 mono-ADP ribosylhydrolase 2 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia ClinVar PMID:23643382 NCBI chr20:13,995,516...16,053,197
Ensembl chr20:13,995,369...16,053,197
JBrowse link
hypogonadotropic hypogonadism 22 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FEZF1 FEZ family zinc finger 1 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with anosmia ClinVar
OMIM
PMID:25192046 NCBI chr 7:122,300,939...122,311,855
Ensembl chr 7:122,301,303...122,310,691
JBrowse link
G FEZF1-AS1 FEZF1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with anosmia ClinVar PMID:25192046 NCBI chr 7:122,303,658...122,310,077
Ensembl chr 7:122,303,658...122,310,119
JBrowse link
Hypogonadotropic Hypogonadism 25 with Anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NDNF neuron derived neurotrophic factor IAGP ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA OMIM
ClinVar
PMID:31883645 NCBI chr 4:121,029,293...121,072,535
Ensembl chr 4:121,035,613...121,073,021
JBrowse link
hypogonadotropic hypogonadism 8 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KISS1R KISS1 receptor IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmia
ClinVar
OMIM
PMID:12788881, PMID:12944565, PMID:17164310, PMID:18772143, PMID:23349759, PMID:23643382, PMID:30311386 NCBI chr19:916,693...921,005
Ensembl chr19:917,287...921,005
JBrowse link
hypogonadotropic hypogonadism 9 with or without anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 9 with or without anosmia ClinVar
OMIM
PMID:15362570, PMID:17235395, PMID:21700882, PMID:25741868 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,573...137,459,334
Ensembl chr 9:137,447,573...137,459,334
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    Pathological Conditions, Signs and Symptoms 9687
      Signs and Symptoms 5971
        Neurologic Manifestations 4794
          Sensation Disorders 1232
            Olfaction Disorders 23
              Congenital Anosmia + 2
              Hereditary Sensory and Autonomic Neuropathy, Adult-Onset, with Anosmia 0
              Johnson Neuroectodermal Syndrome 0
              Musk, Inability to Smell 0
              hypogonadotropic hypogonadism 10 with or without anosmia 1
              hypogonadotropic hypogonadism 11 with or without anosmia 1
              hypogonadotropic hypogonadism 13 with or without anosmia 1
              hypogonadotropic hypogonadism 14 with or without anosmia 1
              hypogonadotropic hypogonadism 15 with or without anosmia 1
              hypogonadotropic hypogonadism 16 with or without anosmia 1
              hypogonadotropic hypogonadism 17 with or without anosmia 1
              hypogonadotropic hypogonadism 18 with or without anosmia 1
              hypogonadotropic hypogonadism 19 with or without anosmia 1
              hypogonadotropic hypogonadism 20 with or without anosmia 1
              hypogonadotropic hypogonadism 21 with or without anosmia 2
              hypogonadotropic hypogonadism 22 with or without anosmia 2
              hypogonadotropic hypogonadism 8 with or without anosmia 1
              hypogonadotropic hypogonadism 9 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.