Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | ADCY3 CL E G H | 109 | 234 | OMIM:617885 | Body mass index quantitative trait locus 19 | | | | | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 54 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | | | | 150 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | | | | 65 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | | | | 65 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | ARSL CL E G H | 415 | 719 | OMIM:302950 | Chondrodysplasia punctata 1, X-linked recessive | | | | | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040282 - Frequent | | | 192 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 184 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | | | | | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:611755 | Leber congenital amaurosis 10 | | | | 342 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:612370 | Hypogonadotropic hypogonadism 5 with or without anosmia | | | | 515 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | | | | 515 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | | | | 36 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | | | | 73 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | | | | 6 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | | | | 4 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | FEZF1 CL E G H | 389549 | 22788 | OMIM:616030 | Hypogonadotropic hypogonadism 22 with or without anosmia | | | | 2 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | | | | 2 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 17 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | FGF17 CL E G H | 8822 | 3673 | OMIM:615270 | Hypogonadotropic hypogonadism 20 with or without anosmia | | | | 3 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | | | | 3 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | FGF8 CL E G H | 2253 | 3686 | OMIM:612702 | Hypogonadotropic hypogonadism 6 with or without anosmia | | | | 17 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | | | | 17 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | | | | 172 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | | | | 172 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 172 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 175 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | | | | 145 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | FLRT3 CL E G H | 23767 | 3762 | OMIM:615271 | Hypogonadotropic hypogonadism 21 with or without anosmia | | | | 4 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | | | | 4 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 8 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | | | | 15 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | | | | 21 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 21 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | HS6ST1 CL E G H | 9394 | 5201 | OMIM:614880 | Hypogonadotropic hypogonadism 15 with or without anosmia | | | | 8 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | | | | 8 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | | | | 39 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 12 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | HP:0040282 - Frequent | | | 31 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | IFT27 CL E G H | 11020 | 18626 | OMIM:615996 | Bardet-Biedl syndrome 19 | | | | 1 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | IL17RD CL E G H | 54756 | 17616 | OMIM:615267 | Hypogonadotropic hypogonadism 18 with or without anosmia | | | | 9 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | | | | 9 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | HP:0040282 - Frequent | | | 167 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | | | | 14 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | LGI1 CL E G H | 9211 | 6572 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | 75 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 221 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | | | | 221 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:2828 | Young-onset Parkinson disease | | | | 221 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | | | | 203 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | MICAL1 CL E G H | 64780 | 20619 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | NDNF CL E G H | 79625 | 26256 | OMIM:618841 | HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25 | | | | | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | | | | | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 220 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | NSMF CL E G H | 26012 | 29843 | OMIM:614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | | | | 6 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 41 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PARK7 CL E G H | 11315 | 16369 | ORPHA:2828 | Young-onset Parkinson disease | | | | 23 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 9 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:614879 | Peroxisome biogenesis disorder 9B | | | | 72 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:266500 | Refsum disease | | | | 72 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | | | | 72 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PHYH CL E G H | 5264 | 8940 | OMIM:266500 | Refsum disease | | | | 45 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | | | | 45 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 162 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PINK1 CL E G H | 65018 | 14581 | ORPHA:2828 | Young-onset Parkinson disease | | | | 55 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PLXND1 CL E G H | 23129 | 9107 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PODXL CL E G H | 5420 | 9171 | ORPHA:2828 | Young-onset Parkinson disease | | | | 6 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PRKN CL E G H | 5071 | 8607 | ORPHA:2828 | Young-onset Parkinson disease | | | | 138 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PROK2 CL E G H | 60675 | 18455 | OMIM:610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | | | | 9 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | | | | 9 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PROKR2 CL E G H | 128674 | 15836 | OMIM:244200 | Hypogonadotropic hypogonadism 3 with or without anosmia | | | | 34 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | | | | 34 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 34 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 665 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PTCH2 CL E G H | 8643 | 9586 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | | | | 291 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | RELN CL E G H | 5649 | 9957 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | 334 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | REV3L CL E G H | 5980 | 9968 | ORPHA:570 | Moebius syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:243000 | Indifference to pain, congenital, autosomal recessive | | | | 318 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SCP2 CL E G H | 6342 | 10606 | OMIM:613724 | Leukoencephalopathy with dystonia and motor neuropathy | | | | 4 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SEMA3A CL E G H | 10371 | 10723 | OMIM:614897 | Hypogonadotropic hypogonadism 16 with or without anosmia | | | | 14 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | | | | 14 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SHH CL E G H | 6469 | 10848 | OMIM:147250 | Solitary median maxillary central incisor | | | | 67 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 1 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:144755 | Hyperostosis cranialis interna | | | | 5 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 87 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 47 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | | | | 174 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | | | | 174 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 22 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 65 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:2828 | Young-onset Parkinson disease | | | | 65 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | | | | 61 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | | | | 61 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | | | | 61 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 33 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | | | | 24 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | HP:0040283 - Occasional | | | 109 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SPRY4 CL E G H | 81848 | 15533 | OMIM:615266 | Hypogonadotropic hypogonadism 17 with or without anosmia | | | | 5 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | | | | 5 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:377 | Gorlin syndrome | HP:0040283 - Occasional | | | 124 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 124 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:2828 | Young-onset Parkinson disease | | | | 9 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | TAC3 CL E G H | 6866 | 11521 | OMIM:614839 | Hypogonadotropic hypogonadism 10 with or without anosmia | | | | 6 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | | | | 34 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | TCF12 CL E G H | 6938 | 11623 | OMIM:619718 | HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26 | | | | 28 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 238 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | TSHZ1 CL E G H | 10194 | 10669 | OMIM:607842 | Aural atresia, congenital | | | | 111 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | UCHL1 CL E G H | 7345 | 12513 | ORPHA:2828 | Young-onset Parkinson disease | | | | 21 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | VPS13C CL E G H | 54832 | 23594 | ORPHA:2828 | Young-onset Parkinson disease | | | | 8 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 37 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | WDR11 CL E G H | 55717 | 13831 | OMIM:614858 | Hypogonadotropic hypogonadism 14 with or without anosmia | | | | 10 | | |
HP:0004408 | HP:0004408 | Abnormality of the sense of smell | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | | | | 10 | | |
HP:0004408 | HP:0034004 | Parosmia | 1 | CL E G H | | | | | | | | | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | ADCY3 CL E G H | 109 | 234 | OMIM:617885 | Body mass index quantitative trait locus 19 | . | | | | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | ADCY3 CL E G H | 109 | 234 | OMIM:617885 | Body mass index quantitative trait locus 19 | . | | | | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | ANK1 CL E G H | 286 | 492 | ORPHA:251066 | 8p11.2 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | . | | | 65 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | . | | | 65 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | ARSL CL E G H | 415 | 719 | OMIM:302950 | Chondrodysplasia punctata 1, X-linked recessive | . | | | | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | . | | | 100 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:606693 | Kufor-Rakeb syndrome | . | | | 100 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | CEP290 CL E G H | 80184 | 29021 | OMIM:611755 | Leber congenital amaurosis 10 | | | | 342 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:612370 | Hypogonadotropic hypogonadism 5 with or without anosmia | | | | 515 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | . | | | 73 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 2 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | DNAJC6 CL E G H | 9829 | 15469 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 6 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 2 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | FEZF1 CL E G H | 389549 | 22788 | OMIM:616030 | Hypogonadotropic hypogonadism 22 with or without anosmia | . | | | 2 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | FGF10 CL E G H | 2255 | 3666 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040284 - Very rare | | | 17 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | FGF17 CL E G H | 8822 | 3673 | OMIM:615270 | Hypogonadotropic hypogonadism 20 with or without anosmia | | | | 3 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | FGF8 CL E G H | 2253 | 3686 | OMIM:612702 | Hypogonadotropic hypogonadism 6 with or without anosmia | HP:0040283 - Occasional | | | 17 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | FGF8 CL E G H | 2253 | 3686 | OMIM:612702 | Hypogonadotropic hypogonadism 6 with or without anosmia | HP:0040283 - Occasional | | | 17 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | . | | | 172 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:147950 | Hypogonadotropic hypogonadism 2 with or without anosmia | | | | 172 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 172 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040284 - Very rare | | | 175 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:2363 | Lacrimoauriculodentodigital syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | FLRT3 CL E G H | 23767 | 3762 | OMIM:615271 | Hypogonadotropic hypogonadism 21 with or without anosmia | | | | 4 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 8 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | HP:0040282 - Frequent | | | 15 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 21 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | HS6ST1 CL E G H | 9394 | 5201 | OMIM:614880 | Hypogonadotropic hypogonadism 15 with or without anosmia | | | | 8 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | HTRA2 CL E G H | 27429 | 14348 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 39 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | IFT27 CL E G H | 11020 | 18626 | OMIM:615996 | Bardet-Biedl syndrome 19 | . | | | 1 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | IL17RD CL E G H | 54756 | 17616 | OMIM:615267 | Hypogonadotropic hypogonadism 18 with or without anosmia | HP:0040283 - Occasional | | | 9 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | HP:0040283 - Occasional | | | 14 | | |
HP:0004408 | HP:0033693 | Phantosmia | 1 | LGI1 CL E G H | 9211 | 6572 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | 75 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 221 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | LRRK2 CL E G H | 120892 | 18618 | OMIM:607060 | Parkinson disease 8, autosomal dominant | . | | | 221 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | . | | | 203 | | |
HP:0004408 | HP:0033693 | Phantosmia | 1 | MICAL1 CL E G H | 64780 | 20619 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | NDNF CL E G H | 79625 | 26256 | OMIM:618841 | HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25 | | | | | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | NSMF CL E G H | 26012 | 29843 | OMIM:614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | HP:0040283 - Occasional | | | 6 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | NSMF CL E G H | 26012 | 29843 | OMIM:614838 | Hypogonadotropic hypogonadism 9 with or without anosmia | . | | | 6 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 41 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | PARK7 CL E G H | 11315 | 16369 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 23 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | PEX7 CL E G H | 5191 | 8860 | OMIM:614879 | Peroxisome biogenesis disorder 9B | . | | | 72 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | PEX7 CL E G H | 5191 | 8860 | OMIM:266500 | Refsum disease | . | | | 72 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | HP:0040281 - Very frequent | | | 72 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | PHYH CL E G H | 5264 | 8940 | OMIM:266500 | Refsum disease | . | | | 45 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | HP:0040281 - Very frequent | | | 45 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | PINK1 CL E G H | 65018 | 14581 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 55 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | PODXL CL E G H | 5420 | 9171 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 6 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | PRKN CL E G H | 5071 | 8607 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 138 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | PROK2 CL E G H | 60675 | 18455 | OMIM:610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | HP:0040283 - Occasional | | | 9 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | PROK2 CL E G H | 60675 | 18455 | OMIM:610628 | Hypogonadotropic hypogonadism 4 with or without anosmia | | | | 9 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | PROKR2 CL E G H | 128674 | 15836 | OMIM:244200 | Hypogonadotropic hypogonadism 3 with or without anosmia | | | | 34 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | PROKR2 CL E G H | 128674 | 15836 | OMIM:244200 | Hypogonadotropic hypogonadism 3 with or without anosmia | . | | | 34 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 34 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | . | | | 291 | | |
HP:0004408 | HP:0033693 | Phantosmia | 1 | RELN CL E G H | 5649 | 9957 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | 334 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | SCN9A CL E G H | 6335 | 10597 | OMIM:243000 | Indifference to pain, congenital, autosomal recessive | . | | | 318 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | SCN9A CL E G H | 6335 | 10597 | OMIM:243000 | Indifference to pain, congenital, autosomal recessive | . | | | 318 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | SCP2 CL E G H | 6342 | 10606 | OMIM:613724 | Leukoencephalopathy with dystonia and motor neuropathy | . | | | 4 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | SEMA3A CL E G H | 10371 | 10723 | OMIM:614897 | Hypogonadotropic hypogonadism 16 with or without anosmia | . | | | 14 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | SEMA3A CL E G H | 10371 | 10723 | OMIM:614897 | Hypogonadotropic hypogonadism 16 with or without anosmia | . | | | 14 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | SHH CL E G H | 6469 | 10848 | OMIM:147250 | Solitary median maxillary central incisor | HP:0040283 - Occasional | | | 67 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:144755 | Hyperostosis cranialis interna | . | | | 5 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:144755 | Hyperostosis cranialis interna | | | | 5 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:603457 | Bosma arhinia microphthalmia syndrome | | | | 174 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | HP:0040281 - Very frequent | | | 174 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | HP:0040281 - Very frequent | | | 174 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 65 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | . | | | 61 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:611584 | Waardenburg syndrome, type 2E | HP:0040283 - Occasional | | | 61 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:613266 | Waardenburg syndrome, type 4C | HP:0040283 - Occasional | | | 61 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 33 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040283 - Occasional | | | 24 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | SPRY4 CL E G H | 81848 | 15533 | OMIM:615266 | Hypogonadotropic hypogonadism 17 with or without anosmia | | | | 5 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 9 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | TAC3 CL E G H | 6866 | 11521 | OMIM:614839 | Hypogonadotropic hypogonadism 10 with or without anosmia | HP:0040283 - Occasional | | | 6 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | TCF12 CL E G H | 6938 | 11623 | OMIM:619718 | HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26 | | | | 28 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | TSHZ1 CL E G H | 10194 | 10669 | OMIM:607842 | Aural atresia, congenital | . | | | 111 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | UCHL1 CL E G H | 7345 | 12513 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 21 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | VPS13C CL E G H | 54832 | 23594 | ORPHA:2828 | Young-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 37 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | WDR11 CL E G H | 55717 | 13831 | OMIM:614858 | Hypogonadotropic hypogonadism 14 with or without anosmia | HP:0040283 - Occasional | | | 10 | | |
HP:0004408 | HP:0000458 | Anosmia | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0004408 | HP:0004409 | Hyposmia | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0004408 | HP:0010635 | Partial hyposmia | 2 | CL E G H | | | | | | | | | | |
HP:0004408 | HP:0010634 | Total hyposmia | 2 | CL E G H | | | | | | | | | | |
HP:0004408 | HP:0010633 | Partial anosmia | 2 | CL E G H | | | | | | | | | | |
HP:0004408 | HP:0010632 | Total anosmia | 2 | CL E G H | | | | | | | | | | |
HP:0004408 | HP:0012247 | Specific anosmia | 2 | CL E G H | | | | | | | | | | |
HP:0004408 | HP:0011161 | Focal sensory seizure with olfactory features | 2 | LGI1 CL E G H | 9211 | 6572 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | 75 | | |
HP:0004408 | HP:0011161 | Focal sensory seizure with olfactory features | 2 | MICAL1 CL E G H | 64780 | 20619 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | | | |
HP:0004408 | HP:0011161 | Focal sensory seizure with olfactory features | 2 | RELN CL E G H | 5649 | 9957 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | 334 | | |
HP:0004408 | HP:0032804 | Focal impaired awareness sensory seizure with olfactory features | 3 | CL E G H | | | | | | | | | | |
HP:0004408 | HP:0032797 | Focal aware sensory seizure with olfactory features | 3 | CL E G H | | | | | | | | | | |