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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 5:75,557,038...75,678,067
Ensembl chr 5:75,557,042...75,676,584
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chr 7:120,380,543...120,392,214
Ensembl chr 7:120,380,544...120,390,954
JBrowse link
G Serpinf1 serpin family F member 1 IEP mRNA:decreased expression:olfactory bulb (rat) RGD PMID:23825416 RGD:8655547 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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 9:119,675,750...119,818,620
Ensembl chr 9:119,676,628...119,818,310
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chr 7:120,393,238...120,403,523
Ensembl chr 7:120,393,254...120,403,523
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 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
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 ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA
ClinVar Annotator: match by OMIM:614839
OMIM
ClinVar
PMID:19079066, PMID:20332248 NCBI chr 7:71,023,976...71,030,582
Ensembl chr 7:71,023,976...71,030,582
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 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 11 with or without anosmia
ClinVar Annotator: match by OMIM:614840
OMIM
ClinVar
PMID:18422838, PMID:19079066, PMID:20332248, PMID:21300340, PMID:22031817, PMID:22035731, PMID:23329188, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 2:240,021,152...240,118,971
Ensembl chr 2:240,021,152...240,118,971
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 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 13 with or without anosmia
ClinVar Annotator: match by OMIM:614842
OMIM
ClinVar
PMID:22335740, PMID:28492532 NCBI chr13:50,529,506...50,537,603
Ensembl chr13:50,529,510...50,535,389
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 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 14 with or without anosmia
ClinVar Annotator: match by OMIM:614858
OMIM
ClinVar
PMID:20887964, PMID:28492532 NCBI chr 1:202,770,810...202,816,336
Ensembl chr 1:202,770,775...202,816,334
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 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 15 with anosmia OMIM
ClinVar
PMID:6881209, PMID:21700882, PMID:23643382 NCBI chr 9:42,620,006...42,659,184
Ensembl chr 9:42,620,006...42,659,184
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 OMIM:614897
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 16 with or without anosmia
ClinVar
OMIM
PMID:22416012, PMID:22927827, PMID:24033266, PMID:28492532 NCBI chr 4:18,170,375...18,545,190
Ensembl chr 4:18,178,656...18,396,035
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
ClinVar Annotator: match by OMIM:615266
OMIM
ClinVar
PMID:23643382, PMID:24033266, PMID:28492532 NCBI chr18:32,593,370...32,609,890
Ensembl chr18:32,594,958...32,609,864
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 ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA OMIM
ClinVar
PMID:23643382, PMID:25636053 NCBI chr16:2,670,471...2,737,271
Ensembl chr16:2,670,618...2,731,808
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 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 19 with or without anosmia
ClinVar Annotator: match by OMIM:615269
OMIM
ClinVar
PMID:23643382, PMID:30311386 NCBI chr 7:41,475,163...41,479,393
Ensembl chr 7:41,475,163...41,479,392
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 OMIM:615270 OMIM
ClinVar
PMID:6881209, PMID:21700882, PMID:23643382 NCBI chr15:52,326,758...52,337,360
Ensembl chr15:52,326,778...52,332,097
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 ClinVar Annotator: match by OMIM:615271 OMIM
ClinVar
PMID:23643382 NCBI chr 3:134,684,446...134,696,586
Ensembl chr 3:134,683,065...134,696,654
JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by This custom term has been created by RGD curators. ClinVar PMID:23643382 NCBI chr 3:135,729,839...136,422,082 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 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 22 with anosmia ClinVar
OMIM
PMID:25192046 NCBI chr 4:50,309,281...50,312,608
Ensembl chr 4:50,309,281...50,312,608
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:31883645 NCBI chr 4:96,528,830...96,565,780 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 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia
ClinVar Annotator: match by OMIM:614837
OMIM
ClinVar
PMID:12788881, PMID:12944565, PMID:17164310, PMID:18772143, PMID:23349759, PMID:23643382, PMID:30311386 NCBI chr 7:12,606,210...12,609,868
Ensembl chr 7:12,606,210...12,609,868
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 This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:614838
OMIM
ClinVar
PMID:15362570, PMID:17235395, PMID:21700882, PMID:25741868 NCBI chr 3:2,262,173...2,270,996
Ensembl chr 3:2,262,253...2,270,995
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Pathological Conditions, Signs and Symptoms 8720
      Signs and Symptoms 5192
        Neurologic Manifestations 4140
          Sensation Disorders 1017
            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.