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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Hyposmia
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Accession:HP:0004409 term browser browse the term
Definition:A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).
Synonyms:exact_synonym: Decreased smell sensation;   Sense of smell impaired
 xref: SNOMEDCT_US:83156004;   UMLS:C2364082



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Hyposmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY3 adenylate cyclase 3 IAGP HPO OMIM:617885 NCBI chr 2:24,819,169...24,920,237
Ensembl chr 2:24,819,169...24,920,237
JBrowse link
G ANOS1 anosmin 1 IAGP HPO OMIM:308700 ORPHA:478 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137
JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO OMIM:606693 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
JBrowse link
G ATP7B ATPase copper transporting beta IAGP HPO OMIM:277900 NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
JBrowse link
G CCDC141 coiled-coil domain containing 141 IAGP HPO ORPHA:478 NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137
JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO OMIM:611755 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:478 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO ORPHA:478 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899
JBrowse link
G DDX6 DEAD-box helicase 6 IAGP HPO OMIM:618653 NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164
JBrowse link
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 IAGP HPO ORPHA:411602 NCBI chr 3:132,417,502...132,539,032
Ensembl chr 3:132,417,502...132,539,032
JBrowse link
G DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 IAGP HPO ORPHA:2828 NCBI chr 1:65,264,749...65,415,871
Ensembl chr 1:65,248,219...65,415,871
JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:478 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
JBrowse link
G EIF4G1 eukaryotic translation initiation factor 4 gamma 1 IAGP HPO ORPHA:411602 NCBI chr 3:184,314,606...184,335,358
Ensembl chr 3:184,314,495...184,335,358
JBrowse link
G FEZF1 FEZ family zinc finger 1 IAGP HPO ORPHA:478 NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691
JBrowse link
G FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:478 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO OMIM:612702 ORPHA:478 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO OMIM:147950 ORPHA:478 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 IAGP HPO OMIM:615271 ORPHA:478 NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:411602 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GIGYF2 GRB10 interacting GYF protein 2 IAGP HPO ORPHA:411602 NCBI chr 2:232,697,331...232,860,605
Ensembl chr 2:232,697,299...232,860,605
JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:478 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:478 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868
JBrowse link
G HTRA2 HtrA serine peptidase 2 IAGP HPO ORPHA:2828 NCBI chr 2:74,529,405...74,533,556
Ensembl chr 2:74,529,596...74,533,350
JBrowse link
G IFT27 intraflagellar transport 27 IAGP HPO OMIM:615996 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256
JBrowse link
G IL17RD interleukin 17 receptor D IAGP HPO ORPHA:478 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
JBrowse link
G LRRK2 leucine rich repeat kinase 2 IAGP HPO OMIM:607060 ORPHA:2828 ORPHA:411602 NCBI chr12:40,224,997...40,369,285
Ensembl chr12:40,196,744...40,369,285
JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO OMIM:615994 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042
JBrowse link
G NDNF neuron derived neurotrophic factor IAGP HPO ORPHA:478 NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021
JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP HPO OMIM:614838 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334
JBrowse link
G PARK7 Parkinsonism associated deglycase IAGP HPO ORPHA:2828 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505
JBrowse link
G PINK1 PTEN induced kinase 1 IAGP HPO ORPHA:2828 NCBI chr 1:20,633,458...20,651,511
Ensembl chr 1:20,633,458...20,651,511
JBrowse link
G PODXL podocalyxin like IAGP HPO ORPHA:2828 NCBI chr 7:131,500,271...131,556,628
Ensembl chr 7:131,500,262...131,558,217
JBrowse link
G PRDM12 PR/SET domain 12 IAGP HPO OMIM:616488 NCBI chr 9:130,664,594...130,682,983
Ensembl chr 9:130,664,594...130,682,986
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP HPO ORPHA:2828 NCBI chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
JBrowse link
G PROK2 prokineticin 2 IAGP HPO OMIM:610628 ORPHA:478 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206
JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO OMIM:244200 ORPHA:478 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO OMIM:151100 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G SCN9A sodium voltage-gated channel alpha subunit 9 IAGP HPO OMIM:243000 NCBI chr 2:166,195,185...166,375,987
Ensembl chr 2:166,195,185...166,376,001
JBrowse link
G SCP2 sterol carrier protein 2 IAGP HPO OMIM:613724 NCBI chr 1:52,927,276...53,051,698
Ensembl chr 1:52,927,276...53,051,698
JBrowse link
G SEMA3A semaphorin 3A IAGP HPO OMIM:614897 ORPHA:478 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724
JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO OMIM:144755 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP HPO ORPHA:2250 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017
JBrowse link
G SNCA synuclein alpha IAGP HPO ORPHA:2828 ORPHA:411602 NCBI chr 4:89,724,099...89,838,304
Ensembl chr 4:89,700,345...89,838,315
JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:478 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO OMIM:615266 ORPHA:478 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455
JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO ORPHA:2828 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040
JBrowse link
G TACR3 tachykinin receptor 3 IAGP HPO ORPHA:478 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985
JBrowse link
G TSHZ1 teashirt zinc finger homeobox 1 IAGP HPO OMIM:607842 NCBI chr18:75,210,797...75,289,944
Ensembl chr18:75,210,755...75,289,950
JBrowse link
G UCHL1 ubiquitin C-terminal hydrolase L1 IAGP HPO ORPHA:2828 NCBI chr 4:41,256,928...41,268,455
Ensembl chr 4:41,256,413...41,268,455
JBrowse link
G VPS13C vacuolar protein sorting 13 homolog C IAGP HPO ORPHA:2828 NCBI chr15:61,852,389...62,060,447
Ensembl chr15:61,852,389...62,060,473
JBrowse link
G VPS35 VPS35 retromer complex component IAGP HPO ORPHA:411602 NCBI chr16:46,656,132...46,689,178
Ensembl chr16:46,656,132...46,689,518
JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO ORPHA:478 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the nervous system 15609
        Abnormal nervous system physiology 14500
          Abnormality of the sense of smell 128
            Hyposmia 52
              Partial hyposmia 0
              Total hyposmia 0
Path 2
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of head or neck 3585
        Abnormality of the head 3556
          Abnormality of the face 3146
            Abnormality of the nose 1764
              Abnormality of the sense of smell 128
                Hyposmia 52
                  Partial hyposmia 0
                  Total hyposmia 0
paths to the root