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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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11087877 NCBI chr 1:251,811,583...251,979,828
Ensembl chr 1:251,811,584...251,979,159
JBrowse link
G POLR2F RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chr 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726
JBrowse link
G SERPINF1 serpin family F member 1 ISO mRNA:decreased expression:olfactory bulb (rat) RGD PMID:23825416 RGD:8655547 NCBI chr12:47,949,004...47,959,471
Ensembl chr12:47,943,051...47,959,472
JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:8723126, PMID:28067909 NCBI chr 6:103,809,732...103,986,057
Ensembl chr 6:103,808,066...103,986,144
JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,959,852
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 chr 5:94,384,397...94,474,337
Ensembl chr 5:94,384,414...94,475,057
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 ISO OMIM NCBI chr 5:22,324,927...22,336,464
Ensembl chr 5:22,324,932...22,354,488
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 ISO OMIM NCBI chr 8:117,662,122...117,718,317
Ensembl chr 8:117,662,122...117,721,624
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 ISO OMIM NCBI chr 9:64,834,822...64,841,071
Ensembl chr 9:64,834,820...64,853,610
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 ISO OMIM NCBI chr14:130,618,924...130,674,536
Ensembl chr14:130,511,592...130,674,541
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 ISO OMIM NCBI chr15:59,066,448...59,108,780
Ensembl chr15:59,066,603...59,108,777
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 ISO OMIM NCBI chr 9:95,934,937...96,387,950
Ensembl chr 9:96,065,922...96,387,950
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 ISO OMIM NCBI chr 2:143,877,334...143,891,280
Ensembl chr 2:143,875,353...143,892,292
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 ISO OMIM NCBI chr13:38,935,631...39,006,721
Ensembl chr13:38,939,279...39,006,690
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 ISO OMIM NCBI chr 5:93,303,058...93,307,510
Ensembl chr 5:93,302,975...93,307,504
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 ISO OMIM NCBI chr14:6,310,840...6,315,465
Ensembl chr14:6,309,786...6,314,976
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 ISO OMIM NCBI chr17:22,940,491...22,955,277
Ensembl chr17:22,940,492...22,954,424
JBrowse link
G MACROD2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia ClinVar PMID:23643382 NCBI chr17:22,635,105...24,686,846
Ensembl chr17:22,635,220...24,683,549
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 ISO OMIM NCBI chr18:24,881,850...24,884,790
Ensembl chr18:24,879,030...24,884,920
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 ISO OMIM NCBI chr 8:103,047,783...103,094,800
Ensembl chr 8:102,996,281...103,088,268
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 ISO OMIM NCBI chr 2:77,472,361...77,479,204
Ensembl chr 2:77,472,362...77,479,204
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 ISO OMIM

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12641
    Pathological Conditions, Signs and Symptoms 7581
      Signs and Symptoms 4619
        Neurologic Manifestations 4007
          Sensation Disorders 976
            Olfaction Disorders 22
              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 1
              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.