Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Grandparent Node:
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Abnormality of the nose (HP:0000366)help
Parent Node:
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Abnormality of the sense of smell (HP:0004408)help
..Starting node
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Hyposmia (HP:0004409)help
Term ID: 4409
Name: Hyposmia
Synonym: Decreased smell sensation; Sense of smell impaired
Definition: A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).
Comments:
Reference: HP:0004409
Genes and Diseases:
 
       Child Nodes:
........expandTotal hyposmia (HP:0010634) help
........expandPartial hyposmia (HP:0010635) help

 Sister Nodes: 
..expandAnosmia (HP:0000458) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004409HP:0004409Hyposmia0ADCY3 CL E G H109234OMIM:617885Body mass index quantitative trait locus 19.
HP:0004409HP:0004409Hyposmia0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0004409HP:0004409Hyposmia0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040281 - Very frequent65
HP:0004409HP:0004409Hyposmia0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0004409HP:0004409Hyposmia0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0004409HP:0004409Hyposmia0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0004409HP:0004409Hyposmia0CEP290 CL E G H8018429021OMIM:611755Leber congenital amaurosis 10342
HP:0004409HP:0004409Hyposmia0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040281 - Very frequent515
HP:0004409HP:0004409Hyposmia0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040281 - Very frequent36
HP:0004409HP:0004409Hyposmia0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004409HP:0004409Hyposmia0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0004409HP:0004409Hyposmia0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0004409HP:0004409Hyposmia0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0004409HP:0004409Hyposmia0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0004409HP:0004409Hyposmia0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040281 - Very frequent2
HP:0004409HP:0004409Hyposmia0FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040281 - Very frequent3
HP:0004409HP:0004409Hyposmia0FGF8 CL E G H22533686OMIM:612702Hypogonadotropic hypogonadism 6 with or without anosmiaHP:0040283 - Occasional17
HP:0004409HP:0004409Hyposmia0FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040281 - Very frequent17
HP:0004409HP:0004409Hyposmia0FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia172
HP:0004409HP:0004409Hyposmia0FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040281 - Very frequent172
HP:0004409HP:0004409Hyposmia0FLRT3 CL E G H237673762OMIM:615271Hypogonadotropic hypogonadism 21 with or without anosmia4
HP:0004409HP:0004409Hyposmia0FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0004409HP:0004409Hyposmia0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent
HP:0004409HP:0004409Hyposmia0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent8
HP:0004409HP:0004409Hyposmia0HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040281 - Very frequent21
HP:0004409HP:0004409Hyposmia0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040281 - Very frequent8
HP:0004409HP:0004409Hyposmia0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional39
HP:0004409HP:0004409Hyposmia0IFT27 CL E G H1102018626OMIM:615996Bardet-Biedl syndrome 19.1
HP:0004409HP:0004409Hyposmia0IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0004409HP:0004409Hyposmia0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0004409HP:0004409Hyposmia0LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant.221
HP:0004409HP:0004409Hyposmia0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0004409HP:0004409Hyposmia0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0004409HP:0004409Hyposmia0NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0004409HP:0004409Hyposmia0NSMF CL E G H2601229843OMIM:614838Hypogonadotropic hypogonadism 9 with or without anosmia.6
HP:0004409HP:0004409Hyposmia0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional23
HP:0004409HP:0004409Hyposmia0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional55
HP:0004409HP:0004409Hyposmia0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0004409HP:0004409Hyposmia0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional138
HP:0004409HP:0004409Hyposmia0PROK2 CL E G H6067518455OMIM:610628Hypogonadotropic hypogonadism 4 with or without anosmia9
HP:0004409HP:0004409Hyposmia0PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0004409HP:0004409Hyposmia0PROKR2 CL E G H12867415836OMIM:244200Hypogonadotropic hypogonadism 3 with or without anosmia34
HP:0004409HP:0004409Hyposmia0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0004409HP:0004409Hyposmia0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0004409HP:0004409Hyposmia0SCN9A CL E G H633510597OMIM:243000Indifference to pain, congenital, autosomal recessive.318
HP:0004409HP:0004409Hyposmia0SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy.4
HP:0004409HP:0004409Hyposmia0SEMA3A CL E G H1037110723OMIM:614897Hypogonadotropic hypogonadism 16 with or without anosmia.14
HP:0004409HP:0004409Hyposmia0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040281 - Very frequent14
HP:0004409HP:0004409Hyposmia0SLC39A14 CL E G H2351620858OMIM:144755Hyperostosis cranialis interna.5
HP:0004409HP:0004409Hyposmia0SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndromeHP:0040281 - Very frequent174
HP:0004409HP:0004409Hyposmia0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0004409HP:0004409Hyposmia0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0004409HP:0004409Hyposmia0SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040281 - Very frequent61
HP:0004409HP:0004409Hyposmia0SPRY4 CL E G H8184815533OMIM:615266Hypogonadotropic hypogonadism 17 with or without anosmia5
HP:0004409HP:0004409Hyposmia0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040281 - Very frequent5
HP:0004409HP:0004409Hyposmia0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional9
HP:0004409HP:0004409Hyposmia0TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0004409HP:0004409Hyposmia0TSHZ1 CL E G H1019410669OMIM:607842Aural atresia, congenital.111
HP:0004409HP:0004409Hyposmia0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional21
HP:0004409HP:0004409Hyposmia0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0004409HP:0004409Hyposmia0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent37
HP:0004409HP:0004409Hyposmia0WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040281 - Very frequent10
HP:0004409HP:0010635Partial hyposmia1 CL E G H
HP:0004409HP:0010634Total hyposmia1 CL E G H


Genes (51) :ADCY3 ANOS1 ATP13A2 ATP7B CCDC141 CEP290 CHD7 DCC DDX6 DNAJC13 DNAJC6 DUSP6 EIF4G1 FEZF1 FGF17 FGF8 FGFR1 FLRT3 GBA1 GIGYF2 HESX1 HS6ST1 HTRA2 IFT27 IL17RD LRRK2 LZTFL1 NDNF NSMF PARK7 PINK1 PODXL PRKN PROK2 PROKR2 PTPN11 SCN9A SCP2 SEMA3A SLC39A14 SMCHD1 SNCA SOX10 SPRY4 SYNJ1 TACR3 TSHZ1 UCHL1 VPS13C VPS35 WDR11

Diseases (26) :OMIM:617885 OMIM:308700 ORPHA:478 OMIM:606693 OMIM:277900 OMIM:611755 OMIM:618653 ORPHA:411602 ORPHA:2828 OMIM:612702 OMIM:147950 OMIM:615271 OMIM:615996 OMIM:607060 OMIM:615994 OMIM:614838 OMIM:610628 OMIM:244200 OMIM:151100 OMIM:243000 OMIM:613724 OMIM:614897 OMIM:144755 ORPHA:2250 OMIM:615266 OMIM:607842
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.