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:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | ARX CL E G H | 170302 | 18060 | OMIM:300004 | Corpus callosum, agenesis of, with abnormal genitalia | | | | 166 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | C1R CL E G H | 715 | 1246 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | | | | 15 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | C1S CL E G H | 716 | 1247 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | | | | 7 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | | | | 83 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | | | | 50 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | CTSC CL E G H | 1075 | 2528 | OMIM:245000 | Papillon-Lefevre syndrome | | | | 50 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | | | | 164 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | | | | 79 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 209 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 137 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | | | | 70 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:218400 | Craniometaphyseal dysplasia, autosomal recessive | | | | 68 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:1300 | Autosomal dominant popliteal pterygium syndrome | | | | 99 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | | | | 99 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 4 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 167 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | | | | 97 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | | | | 201 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | | | | 201 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 201 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 1 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | | | | 16 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | SH3BP2 CL E G H | 6452 | 10825 | OMIM:118400 | Cherubism | | | | 177 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | | | | 5 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 31 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 45 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 61 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618346 | Microcephaly, growth deficiency, seizures, and brain malformations | | | | | | |
HP:0006477 | HP:0006477 | Abnormality of the alveolar ridges | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | | | | 19 | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | ARX CL E G H | 170302 | 18060 | OMIM:300004 | Corpus callosum, agenesis of, with abnormal genitalia | . | | | 166 | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0006477 | HP:0009085 | Alveolar ridge overgrowth | 1 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0006477 | HP:0006308 | Atrophy of alveolar ridges | 1 | C1R CL E G H | 715 | 1246 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0006477 | HP:0006308 | Atrophy of alveolar ridges | 1 | C1S CL E G H | 716 | 1247 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0006477 | HP:0009085 | Alveolar ridge overgrowth | 1 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | | | | 83 | | |
HP:0006477 | HP:0009084 | Midline notch of upper alveolar ridge | 1 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0006477 | HP:0006308 | Atrophy of alveolar ridges | 1 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0006477 | HP:0006308 | Atrophy of alveolar ridges | 1 | CTSC CL E G H | 1075 | 2528 | OMIM:245000 | Papillon-Lefevre syndrome | . | | | 50 | | |
HP:0006477 | HP:0009085 | Alveolar ridge overgrowth | 1 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | HP:0040282 - Frequent | | | 164 | | |
HP:0006477 | HP:0009085 | Alveolar ridge overgrowth | 1 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0006477 | HP:0006308 | Atrophy of alveolar ridges | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040283 - Occasional | | | 79 | | |
HP:0006477 | HP:0009084 | Midline notch of upper alveolar ridge | 1 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0006477 | HP:0009085 | Alveolar ridge overgrowth | 1 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | | | | 70 | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:218400 | Craniometaphyseal dysplasia, autosomal recessive | . | | | 68 | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0006477 | HP:0009092 | Progressive alveolar ridge hypertropy | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0006477 | HP:0009754 | Fibrous syngnathia | 1 | IRF6 CL E G H | 3664 | 6121 | ORPHA:1300 | Autosomal dominant popliteal pterygium syndrome | HP:0040282 - Frequent | | | 99 | | |
HP:0006477 | HP:0009754 | Fibrous syngnathia | 1 | IRF6 CL E G H | 3664 | 6121 | OMIM:119500 | Popliteal pterygium syndrome | . | | | 99 | | |
HP:0006477 | HP:0009084 | Midline notch of upper alveolar ridge | 1 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 4 | | |
HP:0006477 | HP:0006329 | Alveolar process hypoplasia | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0006477 | HP:0009084 | Midline notch of upper alveolar ridge | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 167 | | |
HP:0006477 | HP:0006308 | Atrophy of alveolar ridges | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0006477 | HP:0009085 | Alveolar ridge overgrowth | 1 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040283 - Occasional | | | 97 | | |
HP:0006477 | HP:0009085 | Alveolar ridge overgrowth | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040281 - Very frequent | | | 201 | | |
HP:0006477 | HP:0009084 | Midline notch of upper alveolar ridge | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 201 | | |
HP:0006477 | HP:0009084 | Midline notch of upper alveolar ridge | 1 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 1 | | |
HP:0006477 | HP:0009085 | Alveolar ridge overgrowth | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0006477 | HP:0009085 | Alveolar ridge overgrowth | 1 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040284 - Very rare | | | 16 | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0006477 | HP:0009085 | Alveolar ridge overgrowth | 1 | SH3BP2 CL E G H | 6452 | 10825 | OMIM:118400 | Cherubism | | | | 177 | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0006477 | HP:0009085 | Alveolar ridge overgrowth | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040283 - Occasional | | | 271 | | |
HP:0006477 | HP:0009085 | Alveolar ridge overgrowth | 1 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | . | | | 5 | | |
HP:0006477 | HP:0009084 | Midline notch of upper alveolar ridge | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 31 | | |
HP:0006477 | HP:0009084 | Midline notch of upper alveolar ridge | 1 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 45 | | |
HP:0006477 | HP:0009084 | Midline notch of upper alveolar ridge | 1 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 61 | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0006477 | HP:0009085 | Alveolar ridge overgrowth | 1 | WDR4 CL E G H | 10785 | 12756 | OMIM:618346 | Microcephaly, growth deficiency, seizures, and brain malformations | | | | | | |
HP:0006477 | HP:0000187 | Broad alveolar ridges | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | . | | | 19 | | |
HP:0006477 | HP:0009100 | Thick anterior alveolar ridges | 2 | CD96 CL E G H | 10225 | 16892 | OMIM:211750 | C syndrome | . | | | 83 | | |
HP:0006477 | HP:0000216 | Broad secondary alveolar ridge | 2 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0006477 | HP:0000216 | Broad secondary alveolar ridge | 2 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |