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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



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Olfaction Disorders term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34624383 NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
JBrowse link
G Gria2 glutamate ionotropic receptor AMPA type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34624383 NCBI chr 2:165,949,379...166,069,510
Ensembl chr 2:165,947,521...166,069,510
JBrowse link
G Lpar1 lysophosphatidic acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11087877 NCBI chr 5:73,229,047...73,347,874
Ensembl chr 5:73,229,625...73,369,895
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
JBrowse link
G Serpinf1 serpin family F member 1 IEP mRNA:decreased expression:olfactory bulb (rat) RGD PMID:23825416 RGD:8655547 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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 PMID:28492532 PMID:31312724 NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
JBrowse link
Anosmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chr 7:110,712,528...110,724,234
Ensembl chr 7:110,712,572...110,724,234
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 PMID:28492532 PMID:31312724 NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chr 7:110,725,274...110,734,651
Ensembl chr 7:110,725,274...110,735,544
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 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 10 without anosmia
OMIM
CTD
ClinVar
PMID:19079066 PMID:20332248 NCBI chr 7:63,562,552...63,569,170
Ensembl chr 7:63,562,552...63,569,170
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
ISS
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia
OMIM:614840
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:16199547 PMID:18422838 PMID:19079066 PMID:20194706 PMID:20332248 More... NCBI chr 2:223,266,536...223,363,791
Ensembl chr 2:223,266,536...223,363,791
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
ISS
OMIM:614842
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 13 with or without anosmia
OMIM
MouseDO
CTD
ClinVar
PMID:22335740 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr13:44,775,106...44,780,707
Ensembl chr13:44,774,823...44,780,612
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with or without anosmia
OMIM
CTD
ClinVar
PMID:20887964 PMID:25741868 PMID:28492532 PMID:29263200 NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with or without anosmia
OMIM
CTD
ClinVar
PMID:6881209 PMID:21700882 PMID:23643382 PMID:24033266 PMID:25077900 More... NCBI chr 9:38,283,502...38,322,684
Ensembl chr 9:38,282,395...38,322,683
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 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia | ClinVar Annotator: match by term: SEMA3A-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:22416012 PMID:22927827 PMID:24033266 PMID:24728844 PMID:24963029 More... NCBI chr 4:21,282,398...21,754,834
Ensembl chr 4:21,287,982...21,494,432
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 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 17 with or without anosmia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:23643382 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with or without anosmia
OMIM
CTD
ClinVar
PMID:23643382 PMID:25636053 PMID:25741868 PMID:28492532 NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 19 with or without anosmia
OMIM
CTD
ClinVar
PMID:23643382 PMID:25741868 PMID:28492532 NCBI chr 7:34,092,848...34,097,186
Ensembl chr 7:34,092,943...34,097,185
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 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 20 without anosmia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:6881209 PMID:21700882 PMID:23643382 NCBI chr15:45,711,498...45,717,622
Ensembl chr15:45,711,998...45,717,063
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia
OMIM
CTD
ClinVar
PMID:23643382 PMID:25741868 PMID:28492532 NCBI chr 3:127,994,491...128,008,137
Ensembl chr 3:127,994,226...128,007,841
JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 21 with or without anosmia ClinVar PMID:23643382 PMID:25741868 PMID:28492532 NCBI chr 3:127,720,066...129,737,511
Ensembl chr 3:127,720,181...129,734,492
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with or without anosmia
OMIM
CTD
ClinVar
PMID:25192046 PMID:25741868 NCBI chr 4:51,762,751...51,766,078
Ensembl chr 4:51,762,751...51,766,078
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 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 25 with anosmia OMIM
ClinVar
PMID:25741868 PMID:31883645 NCBI chr 4:94,944,392...94,981,871
Ensembl chr 4:94,944,360...94,981,873
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
ISS
OMIM:614837
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia
OMIM
MouseDO
CTD
ClinVar
PMID:12788881 PMID:12944565 PMID:14573733 PMID:17164310 PMID:18772143 More... NCBI chr 7:9,785,135...9,790,283
Ensembl chr 7:9,785,135...9,788,793
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 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 9 with or without anosmia | ClinVar Annotator: match by term: NSMF-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15362570 PMID:17235395 PMID:21700882 PMID:25741868 PMID:28492532 NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6939
      Olfaction Disorders 24
        Anosmia + 5
        Inability to Smell Musk 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
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            Olfaction Disorders 24
              Anosmia + 5
              Inability to Smell Musk 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