Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the face (HP:0000271)help
Parent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormality of the nose (HP:0000366)help
..Starting node
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Abnormality of the sense of smell (HP:0004408)help
Term ID: 4408
Name: Abnormality of the sense of smell
Synonym: Abnormal sense of smell; Abnormality of olfaction; Abnormality of the sense of smell; Smell defect
Definition: An anomaly in the ability to perceive and distinguish scents (odors).
Comments:
Reference: HP:0004408
Genes and Diseases:
 
       Child Nodes:
........expandAnosmia (HP:0000458) help
................... HP:0010632 Total anosmia
................... HP:0010633 Partial anosmia
................... HP:0012247 Specific anosmia
........expandHyposmia (HP:0004409) help
................... HP:0010634 Total hyposmia
................... HP:0010635 Partial hyposmia

 Sister Nodes: 
..expandAbnormal external nose morphology (HP:0010938) help
..expandAbnormal nasal base norphology (HP:0012808) help
..expandAbnormal nasal bridge morphology (HP:0000422) help
..expandAbnormal nasal morphology (HP:0005105) help
..expandAbnormal nasal mucosa morphology (HP:0000433) help
..expandAbnormal nasal septum morphology (HP:0000419) help
..expandAbnormal nasal skeleton morphology (HP:0010937) help
..expandAbnormal nasopharynx morphology (HP:0001739) help
..expandAbnormal nostril morphology (HP:0005288) help
..expandAbnormality of nasal hair (HP:0040057) help
..expandAbnormality of nasalis muscle (HP:3000009) help
..expandAbnormality of procerus muscle (HP:3000014) help
..expandAbnormality of the choanae (HP:0000415) help
..expandAbnormality of the nasal cavity (HP:0010640) help
..expandAbnormality of the nasolabial region (HP:0005289) help
..expandEpistaxis (HP:0000421) help
..expandNasal congestion (HP:0001742) help
..expandRhinitis (HP:0012384) 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:0004408HP:0004408Abnormality of the sense of smell0ADCY3 CL E G H109234OMIM:617885Body mass index quantitative trait locus 19
HP:0004408HP:0004408Abnormality of the sense of smell0AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0004408HP:0004408Abnormality of the sense of smell0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndrome150
HP:0004408HP:0004408Abnormality of the sense of smell0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia65
HP:0004408HP:0004408Abnormality of the sense of smell0ANOS1 CL E G H37306211ORPHA:478Kallmann syndrome65
HP:0004408HP:0004408Abnormality of the sense of smell0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrum
HP:0004408HP:0004408Abnormality of the sense of smell0ARSL CL E G H415719OMIM:302950Chondrodysplasia punctata 1, X-linked recessive
HP:0004408HP:0004408Abnormality of the sense of smell0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0004408HP:0004408Abnormality of the sense of smell0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0004408HP:0004408Abnormality of the sense of smell0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0004408HP:0004408Abnormality of the sense of smell0BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0004408HP:0004408Abnormality of the sense of smell0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndrome
HP:0004408HP:0004408Abnormality of the sense of smell0CEP290 CL E G H8018429021OMIM:611755Leber congenital amaurosis 10342
HP:0004408HP:0004408Abnormality of the sense of smell0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0004408HP:0004408Abnormality of the sense of smell0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0004408HP:0004408Abnormality of the sense of smell0CHD7 CL E G H5563620626OMIM:612370Hypogonadotropic hypogonadism 5 with or without anosmia515
HP:0004408HP:0004408Abnormality of the sense of smell0CHD7 CL E G H5563620626ORPHA:478Kallmann syndrome515
HP:0004408HP:0004408Abnormality of the sense of smell0DCC CL E G H16302701ORPHA:478Kallmann syndrome36
HP:0004408HP:0004408Abnormality of the sense of smell0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004408HP:0004408Abnormality of the sense of smell0DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 173
HP:0004408HP:0004408Abnormality of the sense of smell0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0004408HP:0004408Abnormality of the sense of smell0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson disease6
HP:0004408HP:0004408Abnormality of the sense of smell0DUSP6 CL E G H18483072ORPHA:478Kallmann syndrome4
HP:0004408HP:0004408Abnormality of the sense of smell0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0004408HP:0004408Abnormality of the sense of smell0FEZF1 CL E G H38954922788OMIM:616030Hypogonadotropic hypogonadism 22 with or without anosmia2
HP:0004408HP:0004408Abnormality of the sense of smell0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndrome2
HP:0004408HP:0004408Abnormality of the sense of smell0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0004408HP:0004408Abnormality of the sense of smell0FGF17 CL E G H88223673OMIM:615270Hypogonadotropic hypogonadism 20 with or without anosmia3
HP:0004408HP:0004408Abnormality of the sense of smell0FGF17 CL E G H88223673ORPHA:478Kallmann syndrome3
HP:0004408HP:0004408Abnormality of the sense of smell0FGF8 CL E G H22533686OMIM:612702Hypogonadotropic hypogonadism 6 with or without anosmia17
HP:0004408HP:0004408Abnormality of the sense of smell0FGF8 CL E G H22533686ORPHA:478Kallmann syndrome17
HP:0004408HP:0004408Abnormality of the sense of smell0FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia172
HP:0004408HP:0004408Abnormality of the sense of smell0FGFR1 CL E G H22603688ORPHA:478Kallmann syndrome172
HP:0004408HP:0004408Abnormality of the sense of smell0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrum172
HP:0004408HP:0004408Abnormality of the sense of smell0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0004408HP:0004408Abnormality of the sense of smell0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0004408HP:0004408Abnormality of the sense of smell0FLRT3 CL E G H237673762OMIM:615271Hypogonadotropic hypogonadism 21 with or without anosmia4
HP:0004408HP:0004408Abnormality of the sense of smell0FLRT3 CL E G H237673762ORPHA:478Kallmann syndrome4
HP:0004408HP:0004408Abnormality of the sense of smell0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0004408HP:0004408Abnormality of the sense of smell0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0004408HP:0004408Abnormality of the sense of smell0GNRH1 CL E G H27964419OMIM:614841Hypogonadotropic hypogonadism 12 with or without anosmia15
HP:0004408HP:0004408Abnormality of the sense of smell0HESX1 CL E G H88204877ORPHA:478Kallmann syndrome21
HP:0004408HP:0004408Abnormality of the sense of smell0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrum21
HP:0004408HP:0004408Abnormality of the sense of smell0HS6ST1 CL E G H93945201OMIM:614880Hypogonadotropic hypogonadism 15 with or without anosmia8
HP:0004408HP:0004408Abnormality of the sense of smell0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndrome8
HP:0004408HP:0004408Abnormality of the sense of smell0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson disease39
HP:0004408HP:0004408Abnormality of the sense of smell0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040282 - Frequent12
HP:0004408HP:0004408Abnormality of the sense of smell0HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040282 - Frequent31
HP:0004408HP:0004408Abnormality of the sense of smell0IFT27 CL E G H1102018626OMIM:615996Bardet-Biedl syndrome 191
HP:0004408HP:0004408Abnormality of the sense of smell0IL17RD CL E G H5475617616OMIM:615267Hypogonadotropic hypogonadism 18 with or without anosmia9
HP:0004408HP:0004408Abnormality of the sense of smell0IL17RD CL E G H5475617616ORPHA:478Kallmann syndrome9
HP:0004408HP:0004408Abnormality of the sense of smell0KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040282 - Frequent167
HP:0004408HP:0004408Abnormality of the sense of smell0KISS1R CL E G H846344510OMIM:614837Hypogonadotropic hypogonadism 8 with or without anosmia14
HP:0004408HP:0004408Abnormality of the sense of smell0LGI1 CL E G H92116572OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL175
HP:0004408HP:0004408Abnormality of the sense of smell0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0004408HP:0004408Abnormality of the sense of smell0LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant221
HP:0004408HP:0004408Abnormality of the sense of smell0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson disease221
HP:0004408HP:0004408Abnormality of the sense of smell0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0004408HP:0004408Abnormality of the sense of smell0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI203
HP:0004408HP:0004408Abnormality of the sense of smell0MICAL1 CL E G H6478020619OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0004408HP:0004408Abnormality of the sense of smell0NDNF CL E G H7962526256OMIM:618841HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0004408HP:0004408Abnormality of the sense of smell0NDNF CL E G H7962526256ORPHA:478Kallmann syndrome
HP:0004408HP:0004408Abnormality of the sense of smell0NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040283 - Occasional220
HP:0004408HP:0004408Abnormality of the sense of smell0NSMF CL E G H2601229843OMIM:614838Hypogonadotropic hypogonadism 9 with or without anosmia6
HP:0004408HP:0004408Abnormality of the sense of smell0OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrum41
HP:0004408HP:0004408Abnormality of the sense of smell0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson disease23
HP:0004408HP:0004408Abnormality of the sense of smell0PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040283 - Occasional9
HP:0004408HP:0004408Abnormality of the sense of smell0PEX7 CL E G H51918860OMIM:614879Peroxisome biogenesis disorder 9B72
HP:0004408HP:0004408Abnormality of the sense of smell0PEX7 CL E G H51918860OMIM:266500Refsum disease72
HP:0004408HP:0004408Abnormality of the sense of smell0PEX7 CL E G H51918860ORPHA:773Refsum disease72
HP:0004408HP:0004408Abnormality of the sense of smell0PHYH CL E G H52648940OMIM:266500Refsum disease45
HP:0004408HP:0004408Abnormality of the sense of smell0PHYH CL E G H52648940ORPHA:773Refsum disease45
HP:0004408HP:0004408Abnormality of the sense of smell0PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040283 - Occasional162
HP:0004408HP:0004408Abnormality of the sense of smell0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson disease55
HP:0004408HP:0004408Abnormality of the sense of smell0PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040283 - Occasional
HP:0004408HP:0004408Abnormality of the sense of smell0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson disease6
HP:0004408HP:0004408Abnormality of the sense of smell0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson disease138
HP:0004408HP:0004408Abnormality of the sense of smell0PROK2 CL E G H6067518455OMIM:610628Hypogonadotropic hypogonadism 4 with or without anosmia9
HP:0004408HP:0004408Abnormality of the sense of smell0PROK2 CL E G H6067518455ORPHA:478Kallmann syndrome9
HP:0004408HP:0004408Abnormality of the sense of smell0PROKR2 CL E G H12867415836OMIM:244200Hypogonadotropic hypogonadism 3 with or without anosmia34
HP:0004408HP:0004408Abnormality of the sense of smell0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndrome34
HP:0004408HP:0004408Abnormality of the sense of smell0PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrum34
HP:0004408HP:0004408Abnormality of the sense of smell0PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040283 - Occasional665
HP:0004408HP:0004408Abnormality of the sense of smell0PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040283 - Occasional40
HP:0004408HP:0004408Abnormality of the sense of smell0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1291
HP:0004408HP:0004408Abnormality of the sense of smell0RELN CL E G H56499957OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1334
HP:0004408HP:0004408Abnormality of the sense of smell0REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040283 - Occasional3
HP:0004408HP:0004408Abnormality of the sense of smell0SCN9A CL E G H633510597OMIM:243000Indifference to pain, congenital, autosomal recessive318
HP:0004408HP:0004408Abnormality of the sense of smell0SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy4
HP:0004408HP:0004408Abnormality of the sense of smell0SEMA3A CL E G H1037110723OMIM:614897Hypogonadotropic hypogonadism 16 with or without anosmia14
HP:0004408HP:0004408Abnormality of the sense of smell0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndrome14
HP:0004408HP:0004408Abnormality of the sense of smell0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0004408HP:0004408Abnormality of the sense of smell0SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor67
HP:0004408HP:0004408Abnormality of the sense of smell0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040282 - Frequent1
HP:0004408HP:0004408Abnormality of the sense of smell0SLC39A14 CL E G H2351620858OMIM:144755Hyperostosis cranialis interna5
HP:0004408HP:0004408Abnormality of the sense of smell0SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040283 - Occasional87
HP:0004408HP:0004408Abnormality of the sense of smell0SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040283 - Occasional47
HP:0004408HP:0004408Abnormality of the sense of smell0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0004408HP:0004408Abnormality of the sense of smell0SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome174
HP:0004408HP:0004408Abnormality of the sense of smell0SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040283 - Occasional22
HP:0004408HP:0004408Abnormality of the sense of smell0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0004408HP:0004408Abnormality of the sense of smell0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson disease65
HP:0004408HP:0004408Abnormality of the sense of smell0SOX10 CL E G H666311190ORPHA:478Kallmann syndrome61
HP:0004408HP:0004408Abnormality of the sense of smell0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0004408HP:0004408Abnormality of the sense of smell0SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2E61
HP:0004408HP:0004408Abnormality of the sense of smell0SOX10 CL E G H666311190OMIM:613266Waardenburg syndrome, type 4C61
HP:0004408HP:0004408Abnormality of the sense of smell0SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrum33
HP:0004408HP:0004408Abnormality of the sense of smell0SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrum24
HP:0004408HP:0004408Abnormality of the sense of smell0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040283 - Occasional109
HP:0004408HP:0004408Abnormality of the sense of smell0SPRY4 CL E G H8184815533OMIM:615266Hypogonadotropic hypogonadism 17 with or without anosmia5
HP:0004408HP:0004408Abnormality of the sense of smell0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndrome5
HP:0004408HP:0004408Abnormality of the sense of smell0SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040283 - Occasional124
HP:0004408HP:0004408Abnormality of the sense of smell0SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040283 - Occasional124
HP:0004408HP:0004408Abnormality of the sense of smell0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson disease9
HP:0004408HP:0004408Abnormality of the sense of smell0TAC3 CL E G H686611521OMIM:614839Hypogonadotropic hypogonadism 10 with or without anosmia6
HP:0004408HP:0004408Abnormality of the sense of smell0TACR3 CL E G H687011528ORPHA:478Kallmann syndrome34
HP:0004408HP:0004408Abnormality of the sense of smell0TCF12 CL E G H693811623OMIM:619718HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH2628
HP:0004408HP:0004408Abnormality of the sense of smell0TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040283 - Occasional238
HP:0004408HP:0004408Abnormality of the sense of smell0TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040283 - Occasional
HP:0004408HP:0004408Abnormality of the sense of smell0TSHZ1 CL E G H1019410669OMIM:607842Aural atresia, congenital111
HP:0004408HP:0004408Abnormality of the sense of smell0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson disease21
HP:0004408HP:0004408Abnormality of the sense of smell0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson disease8
HP:0004408HP:0004408Abnormality of the sense of smell0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0004408HP:0004408Abnormality of the sense of smell0WDR11 CL E G H5571713831OMIM:614858Hypogonadotropic hypogonadism 14 with or without anosmia10
HP:0004408HP:0004408Abnormality of the sense of smell0WDR11 CL E G H5571713831ORPHA:478Kallmann syndrome10
HP:0004408HP:0034004Parosmia1 CL E G H
HP:0004408HP:0004409Hyposmia1ADCY3 CL E G H109234OMIM:617885Body mass index quantitative trait locus 19.
HP:0004408HP:0000458Anosmia1ADCY3 CL E G H109234OMIM:617885Body mass index quantitative trait locus 19.
HP:0004408HP:0000458Anosmia1ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040283 - Occasional150
HP:0004408HP:0000458Anosmia1ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0004408HP:0004409Hyposmia1ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0004408HP:0004409Hyposmia1ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040281 - Very frequent65
HP:0004408HP:0000458Anosmia1ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040281 - Very frequent65
HP:0004408HP:0000458Anosmia1ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional
HP:0004408HP:0000458Anosmia1ARSL CL E G H415719OMIM:302950Chondrodysplasia punctata 1, X-linked recessive.
HP:0004408HP:0000458Anosmia1ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0004408HP:0004409Hyposmia1ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0004408HP:0004409Hyposmia1ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0004408HP:0000458Anosmia1CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0004408HP:0004409Hyposmia1CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0004408HP:0004409Hyposmia1CEP290 CL E G H8018429021OMIM:611755Leber congenital amaurosis 10342
HP:0004408HP:0000458Anosmia1CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0004408HP:0000458Anosmia1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040281 - Very frequent515
HP:0004408HP:0000458Anosmia1CHD7 CL E G H5563620626OMIM:612370Hypogonadotropic hypogonadism 5 with or without anosmia515
HP:0004408HP:0004409Hyposmia1CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040281 - Very frequent515
HP:0004408HP:0000458Anosmia1CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040281 - Very frequent515
HP:0004408HP:0004409Hyposmia1DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040281 - Very frequent36
HP:0004408HP:0000458Anosmia1DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040281 - Very frequent36
HP:0004408HP:0004409Hyposmia1DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004408HP:0000458Anosmia1DNAI1 CL E G H270192954OMIM:244400Ciliary dyskinesia, primary, 1.73
HP:0004408HP:0004409Hyposmia1DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0004408HP:0004409Hyposmia1DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0004408HP:0000458Anosmia1DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0004408HP:0004409Hyposmia1DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0004408HP:0004409Hyposmia1EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0004408HP:0000458Anosmia1FEZF1 CL E G H38954922788OMIM:616030Hypogonadotropic hypogonadism 22 with or without anosmia.2
HP:0004408HP:0000458Anosmia1FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040281 - Very frequent2
HP:0004408HP:0004409Hyposmia1FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040281 - Very frequent2
HP:0004408HP:0000458Anosmia1FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare17
HP:0004408HP:0000458Anosmia1FGF17 CL E G H88223673OMIM:615270Hypogonadotropic hypogonadism 20 with or without anosmia3
HP:0004408HP:0000458Anosmia1FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040281 - Very frequent3
HP:0004408HP:0004409Hyposmia1FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040281 - Very frequent3
HP:0004408HP:0000458Anosmia1FGF8 CL E G H22533686OMIM:612702Hypogonadotropic hypogonadism 6 with or without anosmiaHP:0040283 - Occasional17
HP:0004408HP:0004409Hyposmia1FGF8 CL E G H22533686OMIM:612702Hypogonadotropic hypogonadism 6 with or without anosmiaHP:0040283 - Occasional17
HP:0004408HP:0004409Hyposmia1FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040281 - Very frequent17
HP:0004408HP:0000458Anosmia1FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040281 - Very frequent17
HP:0004408HP:0000458Anosmia1FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia.172
HP:0004408HP:0004409Hyposmia1FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia172
HP:0004408HP:0000458Anosmia1FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040281 - Very frequent172
HP:0004408HP:0004409Hyposmia1FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040281 - Very frequent172
HP:0004408HP:0000458Anosmia1FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional172
HP:0004408HP:0000458Anosmia1FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare175
HP:0004408HP:0000458Anosmia1FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare145
HP:0004408HP:0004409Hyposmia1FLRT3 CL E G H237673762OMIM:615271Hypogonadotropic hypogonadism 21 with or without anosmia4
HP:0004408HP:0000458Anosmia1FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0004408HP:0004409Hyposmia1FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0004408HP:0004409Hyposmia1GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent
HP:0004408HP:0004409Hyposmia1GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent8
HP:0004408HP:0000458Anosmia1GNRH1 CL E G H27964419OMIM:614841Hypogonadotropic hypogonadism 12 with or without anosmiaHP:0040282 - Frequent15
HP:0004408HP:0004409Hyposmia1HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040281 - Very frequent21
HP:0004408HP:0000458Anosmia1HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040281 - Very frequent21
HP:0004408HP:0000458Anosmia1HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional21
HP:0004408HP:0000458Anosmia1HS6ST1 CL E G H93945201OMIM:614880Hypogonadotropic hypogonadism 15 with or without anosmia8
HP:0004408HP:0004409Hyposmia1HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040281 - Very frequent8
HP:0004408HP:0000458Anosmia1HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040281 - Very frequent8
HP:0004408HP:0004409Hyposmia1HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional39
HP:0004408HP:0004409Hyposmia1IFT27 CL E G H1102018626OMIM:615996Bardet-Biedl syndrome 19.1
HP:0004408HP:0000458Anosmia1IL17RD CL E G H5475617616OMIM:615267Hypogonadotropic hypogonadism 18 with or without anosmiaHP:0040283 - Occasional9
HP:0004408HP:0000458Anosmia1IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0004408HP:0004409Hyposmia1IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0004408HP:0000458Anosmia1KISS1R CL E G H846344510OMIM:614837Hypogonadotropic hypogonadism 8 with or without anosmiaHP:0040283 - Occasional14
HP:0004408HP:0033693Phantosmia1LGI1 CL E G H92116572OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL175
HP:0004408HP:0004409Hyposmia1LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0004408HP:0004409Hyposmia1LRRK2 CL E G H12089218618OMIM:607060Parkinson disease 8, autosomal dominant.221
HP:0004408HP:0004409Hyposmia1LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0004408HP:0000458Anosmia1LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0004408HP:0004409Hyposmia1LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0004408HP:0000458Anosmia1MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI.203
HP:0004408HP:0033693Phantosmia1MICAL1 CL E G H6478020619OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0004408HP:0000458Anosmia1NDNF CL E G H7962526256OMIM:618841HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0004408HP:0000458Anosmia1NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0004408HP:0004409Hyposmia1NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0004408HP:0000458Anosmia1NSMF CL E G H2601229843OMIM:614838Hypogonadotropic hypogonadism 9 with or without anosmiaHP:0040283 - Occasional6
HP:0004408HP:0004409Hyposmia1NSMF CL E G H2601229843OMIM:614838Hypogonadotropic hypogonadism 9 with or without anosmia.6
HP:0004408HP:0000458Anosmia1OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional41
HP:0004408HP:0004409Hyposmia1PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional23
HP:0004408HP:0000458Anosmia1PEX7 CL E G H51918860OMIM:614879Peroxisome biogenesis disorder 9B.72
HP:0004408HP:0000458Anosmia1PEX7 CL E G H51918860OMIM:266500Refsum disease.72
HP:0004408HP:0000458Anosmia1PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040281 - Very frequent72
HP:0004408HP:0000458Anosmia1PHYH CL E G H52648940OMIM:266500Refsum disease.45
HP:0004408HP:0000458Anosmia1PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040281 - Very frequent45
HP:0004408HP:0004409Hyposmia1PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional55
HP:0004408HP:0004409Hyposmia1PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0004408HP:0004409Hyposmia1PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional138
HP:0004408HP:0000458Anosmia1PROK2 CL E G H6067518455OMIM:610628Hypogonadotropic hypogonadism 4 with or without anosmiaHP:0040283 - Occasional9
HP:0004408HP:0004409Hyposmia1PROK2 CL E G H6067518455OMIM:610628Hypogonadotropic hypogonadism 4 with or without anosmia9
HP:0004408HP:0000458Anosmia1PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0004408HP:0004409Hyposmia1PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0004408HP:0004409Hyposmia1PROKR2 CL E G H12867415836OMIM:244200Hypogonadotropic hypogonadism 3 with or without anosmia34
HP:0004408HP:0000458Anosmia1PROKR2 CL E G H12867415836OMIM:244200Hypogonadotropic hypogonadism 3 with or without anosmia.34
HP:0004408HP:0004409Hyposmia1PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0004408HP:0000458Anosmia1PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0004408HP:0000458Anosmia1PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional34
HP:0004408HP:0004409Hyposmia1PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0004408HP:0033693Phantosmia1RELN CL E G H56499957OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1334
HP:0004408HP:0004409Hyposmia1SCN9A CL E G H633510597OMIM:243000Indifference to pain, congenital, autosomal recessive.318
HP:0004408HP:0000458Anosmia1SCN9A CL E G H633510597OMIM:243000Indifference to pain, congenital, autosomal recessive.318
HP:0004408HP:0004409Hyposmia1SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy.4
HP:0004408HP:0000458Anosmia1SEMA3A CL E G H1037110723OMIM:614897Hypogonadotropic hypogonadism 16 with or without anosmia.14
HP:0004408HP:0004409Hyposmia1SEMA3A CL E G H1037110723OMIM:614897Hypogonadotropic hypogonadism 16 with or without anosmia.14
HP:0004408HP:0004409Hyposmia1SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040281 - Very frequent14
HP:0004408HP:0000458Anosmia1SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040281 - Very frequent14
HP:0004408HP:0000458Anosmia1SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040281 - Very frequent16
HP:0004408HP:0000458Anosmia1SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisorHP:0040283 - Occasional67
HP:0004408HP:0004409Hyposmia1SLC39A14 CL E G H2351620858OMIM:144755Hyperostosis cranialis interna.5
HP:0004408HP:0000458Anosmia1SLC39A14 CL E G H2351620858OMIM:144755Hyperostosis cranialis interna5
HP:0004408HP:0000458Anosmia1SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0004408HP:0004409Hyposmia1SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndromeHP:0040281 - Very frequent174
HP:0004408HP:0000458Anosmia1SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndromeHP:0040281 - Very frequent174
HP:0004408HP:0004409Hyposmia1SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0004408HP:0004409Hyposmia1SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0004408HP:0000458Anosmia1SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040281 - Very frequent61
HP:0004408HP:0004409Hyposmia1SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040281 - Very frequent61
HP:0004408HP:0000458Anosmia1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease.61
HP:0004408HP:0000458Anosmia1SOX10 CL E G H666311190OMIM:611584Waardenburg syndrome, type 2EHP:0040283 - Occasional61
HP:0004408HP:0000458Anosmia1SOX10 CL E G H666311190OMIM:613266Waardenburg syndrome, type 4CHP:0040283 - Occasional61
HP:0004408HP:0000458Anosmia1SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional33
HP:0004408HP:0000458Anosmia1SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional24
HP:0004408HP:0004409Hyposmia1SPRY4 CL E G H8184815533OMIM:615266Hypogonadotropic hypogonadism 17 with or without anosmia5
HP:0004408HP:0000458Anosmia1SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040281 - Very frequent5
HP:0004408HP:0004409Hyposmia1SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040281 - Very frequent5
HP:0004408HP:0004409Hyposmia1SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional9
HP:0004408HP:0000458Anosmia1TAC3 CL E G H686611521OMIM:614839Hypogonadotropic hypogonadism 10 with or without anosmiaHP:0040283 - Occasional6
HP:0004408HP:0000458Anosmia1TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0004408HP:0004409Hyposmia1TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0004408HP:0000458Anosmia1TCF12 CL E G H693811623OMIM:619718HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH2628
HP:0004408HP:0004409Hyposmia1TSHZ1 CL E G H1019410669OMIM:607842Aural atresia, congenital.111
HP:0004408HP:0004409Hyposmia1UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional21
HP:0004408HP:0004409Hyposmia1VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0004408HP:0004409Hyposmia1VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent37
HP:0004408HP:0000458Anosmia1WDR11 CL E G H5571713831OMIM:614858Hypogonadotropic hypogonadism 14 with or without anosmiaHP:0040283 - Occasional10
HP:0004408HP:0000458Anosmia1WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040281 - Very frequent10
HP:0004408HP:0004409Hyposmia1WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040281 - Very frequent10
HP:0004408HP:0010635Partial hyposmia2 CL E G H
HP:0004408HP:0010634Total hyposmia2 CL E G H
HP:0004408HP:0010633Partial anosmia2 CL E G H
HP:0004408HP:0010632Total anosmia2 CL E G H
HP:0004408HP:0012247Specific anosmia2 CL E G H
HP:0004408HP:0011161Focal sensory seizure with olfactory features2LGI1 CL E G H92116572OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL175
HP:0004408HP:0011161Focal sensory seizure with olfactory features2MICAL1 CL E G H6478020619OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0004408HP:0011161Focal sensory seizure with olfactory features2RELN CL E G H56499957OMIM:600512EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1334
HP:0004408HP:0032804Focal impaired awareness sensory seizure with olfactory features3 CL E G H
HP:0004408HP:0032797Focal aware sensory seizure with olfactory features3 CL E G H


Genes (94) :ADCY3 AKT1 ANK1 ANOS1 ARNT2 ARSL ATP13A2 ATP7A ATP7B BAP1 CCDC141 CEP290 CHD7 DCC DDX6 DNAI1 DNAJC13 DNAJC6 DUSP6 EIF4G1 FEZF1 FGF10 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FLRT3 GBA1 GIGYF2 GNRH1 HESX1 HS6ST1 HTRA2 HTT HYLS1 IFT27 IL17RD KIF7 KISS1R LGI1 LRRK2 LZTFL1 MFN2 MICAL1 NDNF NF2 NSMF OTX2 PARK7 PDGFB PEX7 PHYH PIK3CA PINK1 PLXND1 PODXL PRKN PROK2 PROKR2 PTCH1 PTCH2 PTPN11 RELN REV3L SCN9A SCP2 SEMA3A SEMA3E SHH SLC2A3 SLC39A14 SMARCB1 SMARCE1 SMCHD1 SMO SNCA SOX10 SOX2 SOX3 SOX9 SPRY4 SUFU SYNJ1 TAC3 TACR3 TCF12 TERT TRAF7 TSHZ1 UCHL1 VPS13C VPS35 WDR11

Diseases (61) :OMIM:617885 ORPHA:2495 ORPHA:251066 OMIM:308700 ORPHA:478 ORPHA:3157 OMIM:302950 OMIM:606693 ORPHA:198 OMIM:277900 OMIM:611755 ORPHA:138 OMIM:214800 OMIM:612370 OMIM:618653 OMIM:244400 ORPHA:411602 ORPHA:2828 OMIM:616030 ORPHA:2363 OMIM:615270 OMIM:612702 OMIM:147950 OMIM:615271 OMIM:614841 OMIM:614880 ORPHA:399 ORPHA:2189 OMIM:615996 OMIM:615267 OMIM:614837 OMIM:600512 OMIM:607060 OMIM:615994 OMIM:601152 OMIM:618841 OMIM:614838 OMIM:614879 OMIM:266500 ORPHA:773 ORPHA:570 OMIM:610628 OMIM:244200 ORPHA:377 OMIM:151100 OMIM:243000 OMIM:613724 OMIM:614897 OMIM:147250 OMIM:144755 OMIM:603457 ORPHA:2250 OMIM:609136 OMIM:611584 OMIM:613266 ORPHA:140 OMIM:615266 OMIM:614839 OMIM:619718 OMIM:607842 OMIM:614858
 

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