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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.


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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 chrNW_004955419:16,190,109...16,324,702
Ensembl chrNW_004955419:16,191,244...16,325,602
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chrNW_004955413:24,300,340...24,309,798
Ensembl chrNW_004955413:24,300,340...24,311,166
JBrowse link
G Serpinf1 serpin family F member 1 ISO mRNA:decreased expression:olfactory bulb (rat) RGD PMID:23825416 RGD:8655547 NCBI chrNW_004955481:1,414,930...1,426,436
Ensembl chrNW_004955481:1,414,930...1,426,241
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 chrNW_004955402:7,544,265...7,661,191
Ensembl chrNW_004955402:7,544,265...7,649,067
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chrNW_004955413:24,313,311...24,323,112
Ensembl chrNW_004955413:24,311,783...24,323,315
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 chrNW_004955405:25,533,037...25,607,021
Ensembl chrNW_004955405:25,533,525...25,606,212
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 chrNW_004955458:4,765,153...4,771,122
Ensembl chrNW_004955458:4,765,089...4,771,316
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 chrNW_004955496:5,152,134...5,222,565
Ensembl chrNW_004955496:5,151,668...5,222,624
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 chrNW_004955406:40,043,139...40,045,973
Ensembl chrNW_004955406:40,043,133...40,045,386
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 chrNW_004955551:1,733,079...1,788,354
Ensembl chrNW_004955551:1,733,004...1,788,438
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 chrNW_004955459:2,273,100...2,310,993
Ensembl chrNW_004955459:2,273,100...2,310,993
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 chrNW_004955410:2,146,088...2,344,342
Ensembl chrNW_004955410:2,144,388...2,338,973
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 chrNW_004955415:11,489,439...11,504,247 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 chrNW_004955430:6,842,756...6,873,195
Ensembl chrNW_004955430:6,848,820...6,898,704
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 chrNW_004955405:26,662,018...26,666,314
Ensembl chrNW_004955405:26,662,018...26,666,314
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 chrNW_004955403:45,544,114...45,548,659
Ensembl chrNW_004955403:45,544,114...45,548,659
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 chrNW_004955415:23,669,749...23,683,235
Ensembl chrNW_004955415:23,669,749...23,683,235
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 chrNW_004955415:23,398,409...25,239,184
Ensembl chrNW_004955415:23,398,776...25,226,450
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 chrNW_004955479:3,945,358...3,953,924
Ensembl chrNW_004955479:3,945,292...3,951,847
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 chrNW_004955428:19,552,493...19,587,712
Ensembl chrNW_004955428:19,552,493...19,587,712
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 chrNW_004955495:6,918,632...6,921,891 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 NCBI chrNW_004955513:5,368,384...5,376,480
Ensembl chrNW_004955513:5,369,218...5,375,670
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11834
    Pathological Conditions, Signs and Symptoms 7128
      Signs and Symptoms 4382
        Neurologic Manifestations 3798
          Sensation Disorders 916
            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.