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:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | AAGAB CL E G H | 79719 | 25662 | OMIM:148600 | Palmoplantar keratoderma, punctate type IA | | | | 7 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 7 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 130 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | ABCA12 CL E G H | 26154 | 14637 | OMIM:601277 | Ichthyosis, congenital, autosomal recessive 4A | | | | 130 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | ABCC9 CL E G H | 10060 | 60 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 254 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | ACTC1 CL E G H | 70 | 143 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 208 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | ACTN2 CL E G H | 88 | 164 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 307 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | | | | 54 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 75 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | | | | 75 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 63 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | | | | 63 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:606545 | Ichthyosis, congenital, autosomal recessive 3 | | | | 63 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | ANKRD1 CL E G H | 27063 | 15819 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 95 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | | | | | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | AQP5 CL E G H | 362 | 638 | ORPHA:2337 | Non-epidermolytic palmoplantar keratoderma | | | | 5 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | AQP5 CL E G H | 362 | 638 | OMIM:600231 | PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB | | | | 5 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | ATP2A2 CL E G H | 488 | 812 | OMIM:101900 | Acrokeratosis verruciformis | | | | 86 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | ATP2A2 CL E G H | 488 | 812 | ORPHA:79151 | Acrokeratosis verruciformis of Hopf | | | | 86 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | ATP2A2 CL E G H | 488 | 812 | ORPHA:218 | Darier disease | | | | 86 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | BAG3 CL E G H | 9531 | 939 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 204 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | BAG5 CL E G H | 9529 | 941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | CAP2 CL E G H | 10486 | 20039 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | CARD14 CL E G H | 79092 | 16446 | ORPHA:2897 | Pityriasis rubra pilaris | | | | 33 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | CARD14 CL E G H | 79092 | 16446 | OMIM:173200 | Pityriasis rubra pilaris | | | | 33 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | CAST CL E G H | 831 | 1515 | OMIM:616295 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | | | | 4 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | CD28 CL E G H | 940 | 1653 | ORPHA:3162 | Sézary syndrome | | | | | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | CERS3 CL E G H | 204219 | 23752 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 5 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:498359 | Aquagenic palmoplantar keratoderma | | | | 1371 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | COG6 CL E G H | 57511 | 18621 | ORPHA:363523 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | | | | 71 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:615328 | Shaheen syndrome | | | | 71 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 2 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 129 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158673 | Localized dystrophic epidermolysis bullosa, acral form | | | | 263 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | CRYAB CL E G H | 1410 | 2389 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 46 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | CSRP3 CL E G H | 8048 | 2472 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 104 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | CSTA CL E G H | 1475 | 2481 | OMIM:607936 | Peeling skin syndrome 4 | | | | 4 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | | | | 160 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:3162 | Sézary syndrome | | | | 10 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | CTSC CL E G H | 1075 | 2528 | OMIM:245010 | Haim-Munk syndrome | | | | 50 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | | | | 50 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | CTSC CL E G H | 1075 | 2528 | OMIM:245000 | Papillon-Lefevre syndrome | | | | 50 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | CYP4F22 CL E G H | 126410 | 26820 | OMIM:604777 | Ichthyosis, congenital, autosomal recessive 5 | | | | 54 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | DES CL E G H | 1674 | 2770 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 263 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | | | | 65 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1496 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | DOLK CL E G H | 22845 | 23406 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 55 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | DSC2 CL E G H | 1824 | 3036 | OMIM:610476 | Arrhythmogenic right ventricular dysplasia, familial, 11 | | | | 268 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | DSG1 CL E G H | 1828 | 3048 | OMIM:615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | | | | 16 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | DSG1 CL E G H | 1828 | 3048 | OMIM:148700 | Keratosis palmoplantaris striata I | | | | 16 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | DSG1 CL E G H | 1828 | 3048 | ORPHA:50942 | Striate palmoplantar keratoderma | | | | 16 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | DSG2 CL E G H | 1829 | 3049 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 358 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | DSP CL E G H | 1832 | 3052 | OMIM:605676 | Cardiomyopathy, dilated, with woolly hair and keratoderma | | | | 747 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | DSP CL E G H | 1832 | 3052 | OMIM:615821 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | | | | 747 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:65282 | Carvajal syndrome | | | | 747 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 747 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | DSP CL E G H | 1832 | 3052 | OMIM:612908 | Keratosis palmoplantaris striata II | | | | 747 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | DSP CL E G H | 1832 | 3052 | OMIM:607655 | Skin fragility-woolly hair syndrome | | | | 747 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:50942 | Striate palmoplantar keratoderma | | | | 747 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:615522 | Cole disease | | | | 151 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | | | | 136 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | FERMT1 CL E G H | 55612 | 15889 | OMIM:173650 | Kindler syndrome | | | | 136 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | | | | 175 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | FHL2 CL E G H | 2274 | 3703 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 36 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 184 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GATAD1 CL E G H | 57798 | 29941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 35 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:317 | Erythrokeratodermia variabilis | | | | 68 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:617525 | Erythrokeratodermia variabilis et progressiva 3 | | | | 68 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:104100 | Palmoplantar keratoderma with congenital alopecia | | | | 68 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | | | | 199 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:494 | Keratoderma hereditarium mutilans | | | | 199 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148350 | Keratoderma, palmoplantar, with deafness | | | | 199 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:149200 | Knuckle pads, leukonychia, and sensorineural deafness | | | | 199 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2698 | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | | | | 199 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2202 | Palmoplantar keratoderma-deafness syndrome | | | | 199 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:124500 | VOHWINKEL SYNDROME; VOWNKL | | | | 199 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJB3 CL E G H | 2707 | 4285 | ORPHA:317 | Erythrokeratodermia variabilis | | | | 74 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJB3 CL E G H | 2707 | 4285 | OMIM:133200 | Erythrokeratodermia variabilis et progressiva 1 | | | | 74 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJB4 CL E G H | 127534 | 4286 | ORPHA:317 | Erythrokeratodermia variabilis | | | | 12 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJB4 CL E G H | 127534 | 4286 | OMIM:617524 | Erythrokeratodermia variabilis et progressiva 2 | | | | 12 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | | | | 56 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | | | | 56 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | HAND2 CL E G H | 9464 | 4808 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 2 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | HPGD CL E G H | 3248 | 5154 | OMIM:259100 | Hypertrophic osteoarthropathy, primary, autosomal recessive 1 | | | | 55 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | | | | 55 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 124 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | JUP CL E G H | 3728 | 6207 | ORPHA:34217 | Naxos disease | | | | 222 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | | | | 222 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KANK2 CL E G H | 25959 | 29300 | OMIM:616099 | Palmoplantar keratoderma and woolly hair | | | | 1 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KDSR CL E G H | 2531 | 4021 | ORPHA:317 | Erythrokeratodermia variabilis | | | | 4 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KDSR CL E G H | 2531 | 4021 | OMIM:617526 | Erythrokeratodermia variabilis et progressiva 4 | | | | 4 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KDSR CL E G H | 2531 | 4021 | ORPHA:316 | Progressive symmetric erythrokeratodermia | | | | 4 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | | | | 5 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | | | | 100 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:113800 | Epidermolytic hyperkeratosis | | | | 100 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 100 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:79503 | Ichthyosis hystrix of Curth-Macklin | | | | 100 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:607654 | KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3 | | | | 100 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:530838 | KRT1-related diffuse nonepidermolytic keratoderma | | | | 100 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:144200 | Palmoplantar keratoderma, epidermolytic | . | | | 100 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:600962 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK | | | | 100 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:50942 | Striate palmoplantar keratoderma | | | | 100 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT10 CL E G H | 3858 | 6413 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | | | | 45 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:113800 | Epidermolytic hyperkeratosis | | | | 45 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:609165 | Erythroderma, ichthyosiform, congenital reticular | | | | 45 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:607602 | Ichthyosis, cyclic, with epidermolytic hyperkeratosis | | | | 45 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | HP:0040282 - Frequent | | | 110 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | | | | 110 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:89838 | Autosomal recessive generalized epidermolysis bullosa simplex | | | | 110 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:125595 | Dermatopathia pigmentosa reticularis | | | | 110 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | HP:0040282 - Frequent | | | 110 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | | | | 110 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:131900 | Epidermolysis bullosa simplex, Koebner type | | | | 110 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79400 | Localized epidermolysis bullosa simplex | HP:0040283 - Occasional | | | 110 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:161000 | Naegeli syndrome | | | | 110 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | | | | 110 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 27 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | | | | 27 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT16 CL E G H | 3868 | 6423 | OMIM:167200 | Pachyonychia congenita, type 1 | | | | 27 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT16 CL E G H | 3868 | 6423 | OMIM:613000 | Palmoplantar keratoderma, nonepidermolytic, focal 1 | | | | 27 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | | | | 23 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT17 CL E G H | 3872 | 6427 | OMIM:167210 | Pachyonychia congenita 2 | | | | 23 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT2 CL E G H | 3849 | 6439 | ORPHA:455 | Superficial epidermolytic ichthyosis | | | | 67 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | HP:0040282 - Frequent | | | 173 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | | | | 173 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:619555 | EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A | | | | 173 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | HP:0040282 - Frequent | | | 173 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131960 | Epidermolysis bullosa simplex with mottled pigmentation | | | | 173 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | | | | 173 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79400 | Localized epidermolysis bullosa simplex | HP:0040283 - Occasional | | | 173 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | | | | 41 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT6A CL E G H | 3853 | 6443 | OMIM:615726 | Pachyonychia congenita 3 | . | | | 41 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | | | | 4 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT6B CL E G H | 3854 | 6444 | OMIM:615728 | Pachyonychia congenita 4 | | | | 4 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT6C CL E G H | 286887 | 20406 | OMIM:615735 | Palmoplantar keratoderma, nonepidermolytic, focal or diffuse | | | | 4 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT83 CL E G H | 3889 | 6460 | OMIM:617756 | Erythrokeratodermia variabilis et progressiva 5 | | | | 65 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT83 CL E G H | 3889 | 6460 | ORPHA:316 | Progressive symmetric erythrokeratodermia | | | | 65 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT9 CL E G H | 3857 | 6447 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 66 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | KRT9 CL E G H | 3857 | 6447 | OMIM:144200 | Palmoplantar keratoderma, epidermolytic | . | | | 66 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 116 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | LAMA4 CL E G H | 3910 | 6484 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 279 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226650 | Epidermolysis bullosa, junctional, Non-Herlitz type | . | | | 167 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 167 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 135 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | LDB3 CL E G H | 11155 | 15710 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 286 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1306 | Buschke-Ollendorff syndrome | | | | 68 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 645 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | | | | | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:316 | Progressive symmetric erythrokeratodermia | | | | | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 134 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 178 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | | | | 22 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | | | | 22 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:300918 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked | | | | 22 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | MCOLN1 CL E G H | 57192 | 13356 | ORPHA:578 | Mucolipidosis type IV | | | | 78 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | MYBPC3 CL E G H | 4607 | 7551 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1143 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | MYH6 CL E G H | 4624 | 7576 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 452 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1269 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 217 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | NECTIN1 CL E G H | 5818 | 9706 | OMIM:225060 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | NEXN CL E G H | 91624 | 29557 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 167 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | | | | 27 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | | | | 27 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 60 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | NIPAL4 CL E G H | 348938 | 28018 | OMIM:612281 | Ichthyosis, congenital, autosomal recessive 6 | | | | 60 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:615225 | Palmoplantar carcinoma, multiple self-healing | | | | 37 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | | | | 17 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | NOP10 CL E G H | 55505 | 14378 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | | | | 17 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | | | | 12 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | | | | 26 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | | | | 66 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PERP CL E G H | 64065 | 17637 | OMIM:619209 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7 | | | | | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PERP CL E G H | 64065 | 17637 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | | | | | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PERP CL E G H | 64065 | 17637 | OMIM:619208 | OLMSTED SYNDROME 2; OLMS2 | | | | | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | | | | 162 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | | | | 107 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PKP1 CL E G H | 5317 | 9023 | OMIM:604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | | | | 107 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226670 | Epidermolysis bullosa simplex with muscular dystrophy | | | | 759 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:616487 | Epidermolysis bullosa simplex with nail dystrophy | . | | | 759 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:79401 | PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement | | | | 759 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PLN CL E G H | 5350 | 9080 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 57 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PNPLA1 CL E G H | 285848 | 21246 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 47 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PNPLA1 CL E G H | 285848 | 21246 | OMIM:615024 | Ichthyosis, congenital, autosomal recessive 10 | | | | 47 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | POMP CL E G H | 51371 | 20330 | OMIM:601952 | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | | | | 2 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | POMP CL E G H | 51371 | 20330 | ORPHA:281201 | Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | | | | 2 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PPCS CL E G H | 79717 | 25686 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 148 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 241 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 59 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | | | | 948 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 212 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | RBM20 CL E G H | 282996 | 27424 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 363 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040283 - Occasional | | | 445 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | RHBDF2 CL E G H | 79651 | 20788 | ORPHA:2198 | Palmoplantar keratoderma-esophageal carcinoma syndrome | | | | 80 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | RHBDF2 CL E G H | 79651 | 20788 | OMIM:148500 | Tylosis with esophageal cancer | | | | 80 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | RSPO1 CL E G H | 284654 | 21679 | OMIM:610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal | | | | 3 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | RSPO1 CL E G H | 284654 | 21679 | ORPHA:85112 | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | | | | 3 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | | | | 77 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SASH1 CL E G H | 23328 | 19182 | OMIM:618373 | Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | | | | 1 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1134 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 304 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SDR9C7 CL E G H | 121214 | 29958 | OMIM:617574 | Ichthyosis, congenital, autosomal recessive 13 | | | | 2 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SERPINA12 CL E G H | 145264 | 18359 | ORPHA:86923 | Hereditary palmoplantar keratoderma, Gamborg-Nielsen type | | | | | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SERPINB7 CL E G H | 8710 | 13902 | ORPHA:140966 | Palmoplantar keratoderma, Nagashima type | | | | 4 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SGCD CL E G H | 6444 | 10807 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 223 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | | | | 13 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SLURP1 CL E G H | 57152 | 18746 | ORPHA:86923 | Hereditary palmoplantar keratoderma, Gamborg-Nielsen type | | | | 15 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SLURP1 CL E G H | 57152 | 18746 | ORPHA:87503 | Mal de Meleda | | | | 15 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SLURP1 CL E G H | 57152 | 18746 | OMIM:248300 | Meleda disease | | | | 15 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:129200 | Basan syndrome | | | | 6 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SMARCAD1 CL E G H | 56916 | 18398 | ORPHA:384 | Huriez syndrome | | | | 6 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:181600 | Huriez syndrome | | | | 6 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SNAP29 CL E G H | 9342 | 11133 | ORPHA:66631 | CEDNIK syndrome | | | | 94 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SNAP29 CL E G H | 9342 | 11133 | OMIM:609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | | | | 94 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | | | | 80 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | STS CL E G H | 412 | 11425 | OMIM:308100 | Ichthyosis, X-linked | | | | 19 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TAF1A CL E G H | 9015 | 11532 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TAFAZZIN CL E G H | 6901 | 11577 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TAT CL E G H | 6898 | 11573 | ORPHA:28378 | Tyrosinemia type 2 | | | | 43 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TCAP CL E G H | 8557 | 11610 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 78 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | | | | 48 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | | | | 238 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | | | | 238 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:100976 | Bathing suit ichthyosis | | | | 98 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 98 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TGM1 CL E G H | 7051 | 11777 | OMIM:242300 | Ichthyosis, congenital, autosomal recessive 1 | | | | 98 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | | | | 60 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TMPO CL E G H | 7112 | 11875 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 136 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:3162 | Sézary syndrome | | | | | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TNNC1 CL E G H | 7134 | 11943 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 73 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TNNI3 CL E G H | 7137 | 11947 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 180 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TNNT2 CL E G H | 7139 | 11949 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 248 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | | | | 140 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TPM1 CL E G H | 7168 | 12010 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 230 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:2202 | Palmoplantar keratoderma-deafness syndrome | | | | | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TRPM4 CL E G H | 54795 | 17993 | ORPHA:316 | Progressive symmetric erythrokeratodermia | | | | 124 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TRPV3 CL E G H | 162514 | 18084 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | | | | 151 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TRPV3 CL E G H | 162514 | 18084 | OMIM:614594 | Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques | | | | 151 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TRPV3 CL E G H | 162514 | 18084 | OMIM:616400 | Palmoplantar keratoderma, nonepidermolytic, focal 2 | | | | 151 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 7128 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 85 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | | | | 1 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | | | | 8 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | VCL CL E G H | 7414 | 12665 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 248 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:620009 | | | | | 63 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | | | | 71 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:50944 | Schöpf-Schulz-Passarge syndrome | | | | 71 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:224750 | Schopf-Schulz-Passarge syndrome | | | | 71 | | |
HP:0007556 | HP:0007556 | Plantar hyperkeratosis | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | | | | 40 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | . | | | 57 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | | | | 57 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | AAGAB CL E G H | 79719 | 25662 | OMIM:148600 | Palmoplantar keratoderma, punctate type IA | | | | 7 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040281 - Very frequent | | | 7 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 130 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | ABCA12 CL E G H | 26154 | 14637 | OMIM:601277 | Ichthyosis, congenital, autosomal recessive 4A | | | | 130 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | ABCC9 CL E G H | 10060 | 60 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 254 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | ACTC1 CL E G H | 70 | 143 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 208 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | ACTN2 CL E G H | 88 | 164 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 307 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | . | | | 54 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | ALOX12B CL E G H | 242 | 430 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 75 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | | | | 75 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 63 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | | | | 63 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:606545 | Ichthyosis, congenital, autosomal recessive 3 | | | | 63 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | ANKRD1 CL E G H | 27063 | 15819 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 95 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | | | | | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | AQP5 CL E G H | 362 | 638 | ORPHA:2337 | Non-epidermolytic palmoplantar keratoderma | | | | 5 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | AQP5 CL E G H | 362 | 638 | OMIM:600231 | PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB | | | | 5 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | ATP2A2 CL E G H | 488 | 812 | OMIM:101900 | Acrokeratosis verruciformis | | | | 86 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | ATP2A2 CL E G H | 488 | 812 | ORPHA:79151 | Acrokeratosis verruciformis of Hopf | | | | 86 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | ATP2A2 CL E G H | 488 | 812 | ORPHA:218 | Darier disease | | | | 86 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | BAG3 CL E G H | 9531 | 939 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 204 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | BAG5 CL E G H | 9529 | 941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | CAP2 CL E G H | 10486 | 20039 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | CARD14 CL E G H | 79092 | 16446 | OMIM:173200 | Pityriasis rubra pilaris | | | | 33 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | CARD14 CL E G H | 79092 | 16446 | ORPHA:2897 | Pityriasis rubra pilaris | | | | 33 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | CAST CL E G H | 831 | 1515 | OMIM:616295 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | | | | 4 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | CD28 CL E G H | 940 | 1653 | ORPHA:3162 | Sézary syndrome | | | | | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | CERS3 CL E G H | 204219 | 23752 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 5 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | CFTR CL E G H | 1080 | 1884 | ORPHA:498359 | Aquagenic palmoplantar keratoderma | | | | 1371 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | COG6 CL E G H | 57511 | 18621 | ORPHA:363523 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | HP:0040282 - Frequent | | | 71 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | COG6 CL E G H | 57511 | 18621 | OMIM:615328 | Shaheen syndrome | . | | | 71 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040281 - Very frequent | | | 2 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 129 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158673 | Localized dystrophic epidermolysis bullosa, acral form | | | | 263 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | CRYAB CL E G H | 1410 | 2389 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 46 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | CSRP3 CL E G H | 8048 | 2472 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 104 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | CSTA CL E G H | 1475 | 2481 | OMIM:607936 | Peeling skin syndrome 4 | | | | 4 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | | | | 160 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:3162 | Sézary syndrome | | | | 10 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | CTSC CL E G H | 1075 | 2528 | OMIM:245010 | Haim-Munk syndrome | | | | 50 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | CTSC CL E G H | 1075 | 2528 | OMIM:245000 | Papillon-Lefevre syndrome | . | | | 50 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | CYP4F22 CL E G H | 126410 | 26820 | OMIM:604777 | Ichthyosis, congenital, autosomal recessive 5 | | | | 54 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | DES CL E G H | 1674 | 2770 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 263 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | | | | 65 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | DMD CL E G H | 1756 | 2928 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1496 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | DOLK CL E G H | 22845 | 23406 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 55 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | DSC2 CL E G H | 1824 | 3036 | OMIM:610476 | Arrhythmogenic right ventricular dysplasia, familial, 11 | | | | 268 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | DSG1 CL E G H | 1828 | 3048 | OMIM:615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | | | | 16 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | DSG1 CL E G H | 1828 | 3048 | OMIM:148700 | Keratosis palmoplantaris striata I | | | | 16 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | DSG1 CL E G H | 1828 | 3048 | ORPHA:50942 | Striate palmoplantar keratoderma | | | | 16 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | DSG2 CL E G H | 1829 | 3049 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 358 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | OMIM:605676 | Cardiomyopathy, dilated, with woolly hair and keratoderma | | | | 747 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | OMIM:615821 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | | | | 747 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | ORPHA:65282 | Carvajal syndrome | | | | 747 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 747 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | OMIM:612908 | Keratosis palmoplantaris striata II | | | | 747 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | OMIM:607655 | Skin fragility-woolly hair syndrome | | | | 747 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | ORPHA:50942 | Striate palmoplantar keratoderma | | | | 747 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | ENPP1 CL E G H | 5167 | 3356 | OMIM:615522 | Cole disease | | | | 151 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | | | | 136 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | FERMT1 CL E G H | 55612 | 15889 | OMIM:173650 | Kindler syndrome | | | | 136 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | | | | 175 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | FHL2 CL E G H | 2274 | 3703 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 36 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 184 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GATAD1 CL E G H | 57798 | 29941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 35 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | HP:0040281 - Very frequent | | | 68 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:317 | Erythrokeratodermia variabilis | | | | 68 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:617525 | Erythrokeratodermia variabilis et progressiva 3 | | | | 68 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:104100 | Palmoplantar keratoderma with congenital alopecia | | | | 68 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | | | | 199 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:494 | Keratoderma hereditarium mutilans | | | | 199 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:148350 | Keratoderma, palmoplantar, with deafness | . | | | 199 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:149200 | Knuckle pads, leukonychia, and sensorineural deafness | | | | 199 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2698 | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | | | | 199 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2202 | Palmoplantar keratoderma-deafness syndrome | | | | 199 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:124500 | VOHWINKEL SYNDROME; VOWNKL | | | | 199 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJB3 CL E G H | 2707 | 4285 | ORPHA:317 | Erythrokeratodermia variabilis | | | | 74 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJB3 CL E G H | 2707 | 4285 | OMIM:133200 | Erythrokeratodermia variabilis et progressiva 1 | | | | 74 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJB4 CL E G H | 127534 | 4286 | ORPHA:317 | Erythrokeratodermia variabilis | | | | 12 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJB4 CL E G H | 127534 | 4286 | OMIM:617524 | Erythrokeratodermia variabilis et progressiva 2 | | | | 12 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | . | | | 56 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | | | | 56 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | | | | 24 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | HAND2 CL E G H | 9464 | 4808 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 2 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | HPGD CL E G H | 3248 | 5154 | OMIM:259100 | Hypertrophic osteoarthropathy, primary, autosomal recessive 1 | . | | | 55 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | | | | 55 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 124 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | | | | 222 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | JUP CL E G H | 3728 | 6207 | ORPHA:34217 | Naxos disease | | | | 222 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KANK2 CL E G H | 25959 | 29300 | OMIM:616099 | Palmoplantar keratoderma and woolly hair | | | | 1 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KDSR CL E G H | 2531 | 4021 | ORPHA:317 | Erythrokeratodermia variabilis | | | | 4 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KDSR CL E G H | 2531 | 4021 | OMIM:617526 | Erythrokeratodermia variabilis et progressiva 4 | . | | | 4 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KDSR CL E G H | 2531 | 4021 | ORPHA:316 | Progressive symmetric erythrokeratodermia | | | | 4 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | | | | 5 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | | | | 100 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | OMIM:113800 | Epidermolytic hyperkeratosis | . | | | 100 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 100 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:79503 | Ichthyosis hystrix of Curth-Macklin | | | | 100 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | OMIM:607654 | KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3 | | | | 100 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:530838 | KRT1-related diffuse nonepidermolytic keratoderma | | | | 100 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | OMIM:144200 | Palmoplantar keratoderma, epidermolytic | . | | | 100 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | OMIM:600962 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK | | | | 100 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:50942 | Striate palmoplantar keratoderma | | | | 100 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT10 CL E G H | 3858 | 6413 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | | | | 45 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT10 CL E G H | 3858 | 6413 | OMIM:113800 | Epidermolytic hyperkeratosis | . | | | 45 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT10 CL E G H | 3858 | 6413 | OMIM:609165 | Erythroderma, ichthyosiform, congenital reticular | . | | | 45 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT10 CL E G H | 3858 | 6413 | OMIM:607602 | Ichthyosis, cyclic, with epidermolytic hyperkeratosis | . | | | 45 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | | | | 110 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:89838 | Autosomal recessive generalized epidermolysis bullosa simplex | HP:0040282 - Frequent | | | 110 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT14 CL E G H | 3861 | 6416 | OMIM:125595 | Dermatopathia pigmentosa reticularis | . | | | 110 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT14 CL E G H | 3861 | 6416 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | . | | | 110 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT14 CL E G H | 3861 | 6416 | OMIM:131900 | Epidermolysis bullosa simplex, Koebner type | | | | 110 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79400 | Localized epidermolysis bullosa simplex | | | | 110 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT14 CL E G H | 3861 | 6416 | OMIM:161000 | Naegeli syndrome | | | | 110 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | | | | 110 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 27 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | | | | 27 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT16 CL E G H | 3868 | 6423 | OMIM:167200 | Pachyonychia congenita, type 1 | . | | | 27 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT16 CL E G H | 3868 | 6423 | OMIM:613000 | Palmoplantar keratoderma, nonepidermolytic, focal 1 | | | | 27 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | | | | 23 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT17 CL E G H | 3872 | 6427 | OMIM:167210 | Pachyonychia congenita 2 | . | | | 23 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT2 CL E G H | 3849 | 6439 | ORPHA:455 | Superficial epidermolytic ichthyosis | | | | 67 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | | | | 173 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT5 CL E G H | 3852 | 6442 | OMIM:619555 | EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A | | | | 173 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT5 CL E G H | 3852 | 6442 | OMIM:131960 | Epidermolysis bullosa simplex with mottled pigmentation | | | | 173 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT5 CL E G H | 3852 | 6442 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | . | | | 173 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79400 | Localized epidermolysis bullosa simplex | | | | 173 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | | | | 41 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT6A CL E G H | 3853 | 6443 | OMIM:615726 | Pachyonychia congenita 3 | | | | 41 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | | | | 4 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT6B CL E G H | 3854 | 6444 | OMIM:615728 | Pachyonychia congenita 4 | | | | 4 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT6C CL E G H | 286887 | 20406 | OMIM:615735 | Palmoplantar keratoderma, nonepidermolytic, focal or diffuse | | | | 4 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT83 CL E G H | 3889 | 6460 | OMIM:617756 | Erythrokeratodermia variabilis et progressiva 5 | . | | | 65 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT83 CL E G H | 3889 | 6460 | ORPHA:316 | Progressive symmetric erythrokeratodermia | | | | 65 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT9 CL E G H | 3857 | 6447 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 66 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | KRT9 CL E G H | 3857 | 6447 | OMIM:144200 | Palmoplantar keratoderma, epidermolytic | . | | | 66 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 116 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | LAMA4 CL E G H | 3910 | 6484 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 279 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 167 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 135 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | LDB3 CL E G H | 11155 | 15710 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 286 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1306 | Buschke-Ollendorff syndrome | | | | 68 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 645 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | | | | | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:316 | Progressive symmetric erythrokeratodermia | | | | | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 134 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 178 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | | | | 22 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | | | | 22 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:300918 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked | . | | | 22 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | MCOLN1 CL E G H | 57192 | 13356 | ORPHA:578 | Mucolipidosis type IV | | | | 78 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | MYBPC3 CL E G H | 4607 | 7551 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1143 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | MYH6 CL E G H | 4624 | 7576 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 452 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1269 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 217 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | NECTIN1 CL E G H | 5818 | 9706 | OMIM:225060 | Cleft lip/palate-ectodermal dysplasia syndrome | . | | | 4 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | NEXN CL E G H | 91624 | 29557 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 167 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | | | | 27 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | NHP2 CL E G H | 55651 | 14377 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | | | | 27 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 60 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | NIPAL4 CL E G H | 348938 | 28018 | OMIM:612281 | Ichthyosis, congenital, autosomal recessive 6 | | | | 60 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | NLRP1 CL E G H | 22861 | 14374 | OMIM:615225 | Palmoplantar carcinoma, multiple self-healing | | | | 37 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | | | | 17 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | NOP10 CL E G H | 55505 | 14378 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | | | | 17 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | | | | 12 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | | | | 26 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | | | | 66 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PERP CL E G H | 64065 | 17637 | OMIM:619209 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7 | | | | | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PERP CL E G H | 64065 | 17637 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | | | | | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PERP CL E G H | 64065 | 17637 | OMIM:619208 | OLMSTED SYNDROME 2; OLMS2 | | | | | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | . | | | 162 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | | | | 107 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PKP1 CL E G H | 5317 | 9023 | OMIM:604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | | | | 107 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PLEC CL E G H | 5339 | 9069 | OMIM:226670 | Epidermolysis bullosa simplex with muscular dystrophy | . | | | 759 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PLEC CL E G H | 5339 | 9069 | ORPHA:79401 | PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement | | | | 759 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PLN CL E G H | 5350 | 9080 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 57 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PNPLA1 CL E G H | 285848 | 21246 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 47 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PNPLA1 CL E G H | 285848 | 21246 | OMIM:615024 | Ichthyosis, congenital, autosomal recessive 10 | | | | 47 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | POMP CL E G H | 51371 | 20330 | OMIM:601952 | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | | | | 2 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | POMP CL E G H | 51371 | 20330 | ORPHA:281201 | Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | | | | 2 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PPCS CL E G H | 79717 | 25686 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 148 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 241 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 59 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | RAF1 CL E G H | 5894 | 9829 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 212 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | RBM20 CL E G H | 282996 | 27424 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 363 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | RHBDF2 CL E G H | 79651 | 20788 | ORPHA:2198 | Palmoplantar keratoderma-esophageal carcinoma syndrome | | | | 80 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | RHBDF2 CL E G H | 79651 | 20788 | OMIM:148500 | Tylosis with esophageal cancer | | | | 80 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | RSPO1 CL E G H | 284654 | 21679 | OMIM:610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal | | | | 3 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | RSPO1 CL E G H | 284654 | 21679 | ORPHA:85112 | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | | | | 3 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | | | | 77 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SASH1 CL E G H | 23328 | 19182 | OMIM:618373 | Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | | | | 1 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SCN5A CL E G H | 6331 | 10593 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1134 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 304 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SDR9C7 CL E G H | 121214 | 29958 | OMIM:617574 | Ichthyosis, congenital, autosomal recessive 13 | . | | | 2 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SERPINA12 CL E G H | 145264 | 18359 | ORPHA:86923 | Hereditary palmoplantar keratoderma, Gamborg-Nielsen type | | | | | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SERPINB7 CL E G H | 8710 | 13902 | ORPHA:140966 | Palmoplantar keratoderma, Nagashima type | | | | 4 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SGCD CL E G H | 6444 | 10807 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 223 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | | | | 13 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SLURP1 CL E G H | 57152 | 18746 | ORPHA:86923 | Hereditary palmoplantar keratoderma, Gamborg-Nielsen type | | | | 15 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SLURP1 CL E G H | 57152 | 18746 | ORPHA:87503 | Mal de Meleda | | | | 15 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SLURP1 CL E G H | 57152 | 18746 | OMIM:248300 | Meleda disease | | | | 15 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:129200 | Basan syndrome | | | | 6 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:181600 | Huriez syndrome | | | | 6 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SMARCAD1 CL E G H | 56916 | 18398 | ORPHA:384 | Huriez syndrome | | | | 6 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SNAP29 CL E G H | 9342 | 11133 | ORPHA:66631 | CEDNIK syndrome | | | | 94 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SNAP29 CL E G H | 9342 | 11133 | OMIM:609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | | | | 94 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | | | | 80 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | STS CL E G H | 412 | 11425 | OMIM:308100 | Ichthyosis, X-linked | | | | 19 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TAF1A CL E G H | 9015 | 11532 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TAFAZZIN CL E G H | 6901 | 11577 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TAT CL E G H | 6898 | 11573 | ORPHA:28378 | Tyrosinemia type 2 | | | | 43 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TCAP CL E G H | 8557 | 11610 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 78 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | | | | 48 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | | | | 238 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | . | | | 238 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TGM1 CL E G H | 7051 | 11777 | ORPHA:100976 | Bathing suit ichthyosis | HP:0040283 - Occasional | | | 98 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TGM1 CL E G H | 7051 | 11777 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 98 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TGM1 CL E G H | 7051 | 11777 | OMIM:242300 | Ichthyosis, congenital, autosomal recessive 1 | HP:0040283 - Occasional | | | 98 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | | | | 60 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TMPO CL E G H | 7112 | 11875 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 136 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:3162 | Sézary syndrome | | | | | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TNNC1 CL E G H | 7134 | 11943 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 73 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TNNI3 CL E G H | 7137 | 11947 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 180 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TNNT2 CL E G H | 7139 | 11949 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 248 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | | | | 140 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TPM1 CL E G H | 7168 | 12010 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 230 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | | | | 27 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:2202 | Palmoplantar keratoderma-deafness syndrome | | | | | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TRPM4 CL E G H | 54795 | 17993 | ORPHA:316 | Progressive symmetric erythrokeratodermia | | | | 124 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TRPV3 CL E G H | 162514 | 18084 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | | | | 151 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TRPV3 CL E G H | 162514 | 18084 | OMIM:614594 | Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques | | | | 151 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TRPV3 CL E G H | 162514 | 18084 | OMIM:616400 | Palmoplantar keratoderma, nonepidermolytic, focal 2 | | | | 151 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 7128 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 85 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | | | | 1 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | | | | 8 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | VCL CL E G H | 7414 | 12665 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 248 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | VPS33B CL E G H | 26276 | 12712 | OMIM:620009 | | | | | 63 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | | | | 71 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | WNT10A CL E G H | 80326 | 13829 | ORPHA:50944 | Schöpf-Schulz-Passarge syndrome | | | | 71 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | WNT10A CL E G H | 80326 | 13829 | OMIM:224750 | Schopf-Schulz-Passarge syndrome | | | | 71 | | |
HP:0007556 | HP:0000972 | Palmoplantar hyperkeratosis | 1 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | | | | 40 | | |
HP:0007556 | HP:0007613 | Spinous keratoses of palms and soles | 2 | CL E G H | | | | | | | | | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0007556 | HP:0007530 | Punctate palmoplantar hyperkeratosis | 2 | AAGAB CL E G H | 79719 | 25662 | OMIM:148600 | Palmoplantar keratoderma, punctate type IA | | | | 7 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040281 - Very frequent | | | 7 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 130 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | ABCA12 CL E G H | 26154 | 14637 | OMIM:601277 | Ichthyosis, congenital, autosomal recessive 4A | . | | | 130 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | ABCC9 CL E G H | 10060 | 60 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 254 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | ACTC1 CL E G H | 70 | 143 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 208 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | ACTN2 CL E G H | 88 | 164 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 307 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | ALOX12B CL E G H | 242 | 430 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 75 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | . | | | 75 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 63 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | . | | | 63 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:606545 | Ichthyosis, congenital, autosomal recessive 3 | HP:0040283 - Occasional | | | 63 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | ANKRD1 CL E G H | 27063 | 15819 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 95 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | | | | | | |
HP:0007556 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 2 | AQP5 CL E G H | 362 | 638 | ORPHA:2337 | Non-epidermolytic palmoplantar keratoderma | HP:0040281 - Very frequent | | | 5 | | |
HP:0007556 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 2 | AQP5 CL E G H | 362 | 638 | OMIM:600231 | PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB | | | | 5 | | |
HP:0007556 | HP:0007530 | Punctate palmoplantar hyperkeratosis | 2 | ATP2A2 CL E G H | 488 | 812 | OMIM:101900 | Acrokeratosis verruciformis | | | | 86 | | |
HP:0007556 | HP:0007530 | Punctate palmoplantar hyperkeratosis | 2 | ATP2A2 CL E G H | 488 | 812 | ORPHA:79151 | Acrokeratosis verruciformis of Hopf | HP:0040282 - Frequent | | | 86 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | ATP2A2 CL E G H | 488 | 812 | ORPHA:218 | Darier disease | HP:0040282 - Frequent | | | 86 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | BAG3 CL E G H | 9531 | 939 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 204 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | BAG5 CL E G H | 9529 | 941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 276 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | CAP2 CL E G H | 10486 | 20039 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | CARD14 CL E G H | 79092 | 16446 | ORPHA:2897 | Pityriasis rubra pilaris | HP:0040281 - Very frequent | | | 33 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | CARD14 CL E G H | 79092 | 16446 | OMIM:173200 | Pityriasis rubra pilaris | | | | 33 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | CAST CL E G H | 831 | 1515 | OMIM:616295 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | . | | | 4 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | CD28 CL E G H | 940 | 1653 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | CERS3 CL E G H | 204219 | 23752 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 5 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | CFTR CL E G H | 1080 | 1884 | ORPHA:498359 | Aquagenic palmoplantar keratoderma | HP:0040281 - Very frequent | | | 1371 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040281 - Very frequent | | | 2 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 129 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | CRYAB CL E G H | 1410 | 2389 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 46 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | CSRP3 CL E G H | 8048 | 2472 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 104 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | CSTA CL E G H | 1475 | 2481 | OMIM:607936 | Peeling skin syndrome 4 | . | | | 4 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 160 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:3162 | Sézary syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0007556 | HP:0007545 | Congenital palmoplantar hyperkeratosis | 2 | CTSC CL E G H | 1075 | 2528 | OMIM:245010 | Haim-Munk syndrome | . | | | 50 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | CYP4F22 CL E G H | 126410 | 26820 | OMIM:604777 | Ichthyosis, congenital, autosomal recessive 5 | HP:0040283 - Occasional | | | 54 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | DES CL E G H | 1674 | 2770 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 263 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 65 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | DMD CL E G H | 1756 | 2928 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 1496 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | DOLK CL E G H | 22845 | 23406 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 55 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | DSC2 CL E G H | 1824 | 3036 | OMIM:610476 | Arrhythmogenic right ventricular dysplasia, familial, 11 | . | | | 268 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | DSG1 CL E G H | 1828 | 3048 | OMIM:615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | . | | | 16 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | DSG1 CL E G H | 1828 | 3048 | OMIM:148700 | Keratosis palmoplantaris striata I | | | | 16 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | DSG1 CL E G H | 1828 | 3048 | ORPHA:50942 | Striate palmoplantar keratoderma | HP:0040281 - Very frequent | | | 16 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | DSG2 CL E G H | 1829 | 3049 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 358 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | DSP CL E G H | 1832 | 3052 | OMIM:605676 | Cardiomyopathy, dilated, with woolly hair and keratoderma | | | | 747 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | DSP CL E G H | 1832 | 3052 | OMIM:615821 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | . | | | 747 | | |
HP:0007556 | HP:0005588 | Patchy palmoplantar hyperkeratosis | 2 | DSP CL E G H | 1832 | 3052 | ORPHA:65282 | Carvajal syndrome | HP:0040281 - Very frequent | | | 747 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | DSP CL E G H | 1832 | 3052 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 747 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | DSP CL E G H | 1832 | 3052 | OMIM:612908 | Keratosis palmoplantaris striata II | . | | | 747 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | DSP CL E G H | 1832 | 3052 | ORPHA:50942 | Striate palmoplantar keratoderma | HP:0040281 - Very frequent | | | 747 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | ENPP1 CL E G H | 5167 | 3356 | OMIM:615522 | Cole disease | . | | | 151 | | |
HP:0007556 | HP:0007530 | Punctate palmoplantar hyperkeratosis | 2 | ENPP1 CL E G H | 5167 | 3356 | OMIM:615522 | Cole disease | | | | 151 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | HP:0040281 - Very frequent | | | 136 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | FHL2 CL E G H | 2274 | 3703 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 36 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | FKTN CL E G H | 2218 | 3622 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 184 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | GATAD1 CL E G H | 57798 | 29941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | HP:0040281 - Very frequent | | | 68 | | |
HP:0007556 | HP:0005588 | Patchy palmoplantar hyperkeratosis | 2 | GJA1 CL E G H | 2697 | 4274 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 68 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | GJA1 CL E G H | 2697 | 4274 | OMIM:617525 | Erythrokeratodermia variabilis et progressiva 3 | . | | | 68 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040283 - Occasional | | | 68 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | GJA1 CL E G H | 2697 | 4274 | OMIM:104100 | Palmoplantar keratoderma with congenital alopecia | | | | 68 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | . | | | 199 | | |
HP:0007556 | HP:0007465 | Honeycomb palmoplantar hyperkeratosis | 2 | GJB2 CL E G H | 2706 | 4284 | ORPHA:494 | Keratoderma hereditarium mutilans | HP:0040281 - Very frequent | | | 199 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | HP:0040282 - Frequent | | | 199 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | GJB2 CL E G H | 2706 | 4284 | OMIM:149200 | Knuckle pads, leukonychia, and sensorineural deafness | | | | 199 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2698 | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | HP:0040282 - Frequent | | | 199 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2202 | Palmoplantar keratoderma-deafness syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0007556 | HP:0007465 | Honeycomb palmoplantar hyperkeratosis | 2 | GJB2 CL E G H | 2706 | 4284 | OMIM:124500 | VOHWINKEL SYNDROME; VOWNKL | | | | 199 | | |
HP:0007556 | HP:0005588 | Patchy palmoplantar hyperkeratosis | 2 | GJB3 CL E G H | 2707 | 4285 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 74 | | |
HP:0007556 | HP:0005588 | Patchy palmoplantar hyperkeratosis | 2 | GJB3 CL E G H | 2707 | 4285 | OMIM:133200 | Erythrokeratodermia variabilis et progressiva 1 | . | | | 74 | | |
HP:0007556 | HP:0005588 | Patchy palmoplantar hyperkeratosis | 2 | GJB4 CL E G H | 127534 | 4286 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 12 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | GJB4 CL E G H | 127534 | 4286 | OMIM:617524 | Erythrokeratodermia variabilis et progressiva 2 | . | | | 12 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | HP:0040282 - Frequent | | | 56 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | HP:0040282 - Frequent | | | 24 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | HAND2 CL E G H | 9464 | 4808 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | HP:0040283 - Occasional | | | 55 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 124 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | JUP CL E G H | 3728 | 6207 | ORPHA:34217 | Naxos disease | HP:0040281 - Very frequent | | | 222 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | . | | | 222 | | |
HP:0007556 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 2 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | | | | 222 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KANK2 CL E G H | 25959 | 29300 | OMIM:616099 | Palmoplantar keratoderma and woolly hair | . | | | 1 | | |
HP:0007556 | HP:0005588 | Patchy palmoplantar hyperkeratosis | 2 | KDSR CL E G H | 2531 | 4021 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040282 - Frequent | | | 4 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KDSR CL E G H | 2531 | 4021 | ORPHA:316 | Progressive symmetric erythrokeratodermia | HP:0040281 - Very frequent | | | 4 | | |
HP:0007556 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 2 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | | | | 5 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 196 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT1 CL E G H | 3848 | 6412 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | HP:0040283 - Occasional | | | 100 | | |
HP:0007556 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 2 | KRT1 CL E G H | 3848 | 6412 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 100 | | |
HP:0007556 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 2 | KRT1 CL E G H | 3848 | 6412 | ORPHA:79503 | Ichthyosis hystrix of Curth-Macklin | HP:0040281 - Very frequent | | | 100 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT1 CL E G H | 3848 | 6412 | OMIM:607654 | KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3 | | | | 100 | | |
HP:0007556 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 2 | KRT1 CL E G H | 3848 | 6412 | ORPHA:530838 | KRT1-related diffuse nonepidermolytic keratoderma | HP:0040281 - Very frequent | | | 100 | | |
HP:0007556 | HP:0007404 | Nonepidermolytic palmoplantar hyperkeratosis | 2 | KRT1 CL E G H | 3848 | 6412 | ORPHA:530838 | KRT1-related diffuse nonepidermolytic keratoderma | HP:0040280 - Obligate | | | 100 | | |
HP:0007556 | HP:0007404 | Nonepidermolytic palmoplantar hyperkeratosis | 2 | KRT1 CL E G H | 3848 | 6412 | OMIM:600962 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK | | | | 100 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT1 CL E G H | 3848 | 6412 | ORPHA:50942 | Striate palmoplantar keratoderma | HP:0040281 - Very frequent | | | 100 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT10 CL E G H | 3858 | 6413 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | HP:0040283 - Occasional | | | 45 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040281 - Very frequent | | | 110 | | |
HP:0007556 | HP:0007497 | Focal friction-related palmoplantar hyperkeratosis | 2 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79400 | Localized epidermolysis bullosa simplex | HP:0040281 - Very frequent | | | 110 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT14 CL E G H | 3861 | 6416 | OMIM:161000 | Naegeli syndrome | . | | | 110 | | |
HP:0007556 | HP:0007530 | Punctate palmoplantar hyperkeratosis | 2 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | | | | 110 | | |
HP:0007556 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 2 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 27 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 27 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT16 CL E G H | 3868 | 6423 | OMIM:613000 | Palmoplantar keratoderma, nonepidermolytic, focal 1 | . | | | 27 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 23 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT2 CL E G H | 3849 | 6439 | ORPHA:455 | Superficial epidermolytic ichthyosis | HP:0040281 - Very frequent | | | 67 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | HP:0040281 - Very frequent | | | 173 | | |
HP:0007556 | HP:0007530 | Punctate palmoplantar hyperkeratosis | 2 | KRT5 CL E G H | 3852 | 6442 | OMIM:131960 | Epidermolysis bullosa simplex with mottled pigmentation | . | | | 173 | | |
HP:0007556 | HP:0007497 | Focal friction-related palmoplantar hyperkeratosis | 2 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79400 | Localized epidermolysis bullosa simplex | HP:0040281 - Very frequent | | | 173 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 41 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT6A CL E G H | 3853 | 6443 | OMIM:615726 | Pachyonychia congenita 3 | . | | | 41 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | HP:0040281 - Very frequent | | | 4 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT6B CL E G H | 3854 | 6444 | OMIM:615728 | Pachyonychia congenita 4 | . | | | 4 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT6C CL E G H | 286887 | 20406 | OMIM:615735 | Palmoplantar keratoderma, nonepidermolytic, focal or diffuse | . | | | 4 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | KRT83 CL E G H | 3889 | 6460 | ORPHA:316 | Progressive symmetric erythrokeratodermia | HP:0040281 - Very frequent | | | 65 | | |
HP:0007556 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 2 | KRT9 CL E G H | 3857 | 6447 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 66 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 116 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | LAMA4 CL E G H | 3910 | 6484 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 279 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 167 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 135 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | LDB3 CL E G H | 11155 | 15710 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 286 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1306 | Buschke-Ollendorff syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 645 | | |
HP:0007556 | HP:0007465 | Honeycomb palmoplantar hyperkeratosis | 2 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | HP:0040281 - Very frequent | | | | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | | | | | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:316 | Progressive symmetric erythrokeratodermia | HP:0040281 - Very frequent | | | | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 134 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040281 - Very frequent | | | 178 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | . | | | 22 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040281 - Very frequent | | | 22 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:300918 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked | . | | | 22 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | MCOLN1 CL E G H | 57192 | 13356 | ORPHA:578 | Mucolipidosis type IV | HP:0040283 - Occasional | | | 78 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | MYBPC3 CL E G H | 4607 | 7551 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 1143 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | MYH6 CL E G H | 4624 | 7576 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 452 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | MYH7 CL E G H | 4625 | 7577 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 1269 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | MYPN CL E G H | 84665 | 23246 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | NEXN CL E G H | 91624 | 29557 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 167 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 27 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 60 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | NIPAL4 CL E G H | 348938 | 28018 | OMIM:612281 | Ichthyosis, congenital, autosomal recessive 6 | . | | | 60 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | NLRP1 CL E G H | 22861 | 14374 | OMIM:615225 | Palmoplantar carcinoma, multiple self-healing | . | | | 37 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 17 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 12 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 26 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | HP:0040281 - Very frequent | | | 66 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | PERP CL E G H | 64065 | 17637 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040281 - Very frequent | | | | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | PERP CL E G H | 64065 | 17637 | OMIM:619208 | OLMSTED SYNDROME 2; OLMS2 | | | | | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 162 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | HP:0040281 - Very frequent | | | 107 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | PLEC CL E G H | 5339 | 9069 | ORPHA:79401 | PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement | HP:0040282 - Frequent | | | 759 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | PLN CL E G H | 5350 | 9080 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 57 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | PNPLA1 CL E G H | 285848 | 21246 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040282 - Frequent | | | 47 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | PNPLA1 CL E G H | 285848 | 21246 | OMIM:615024 | Ichthyosis, congenital, autosomal recessive 10 | . | | | 47 | | |
HP:0007556 | HP:0007465 | Honeycomb palmoplantar hyperkeratosis | 2 | POMP CL E G H | 51371 | 20330 | OMIM:601952 | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | . | | | 2 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | POMP CL E G H | 51371 | 20330 | ORPHA:281201 | Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | PPCS CL E G H | 79717 | 25686 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 148 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 241 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 59 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | RAF1 CL E G H | 5894 | 9829 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 212 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | RBM20 CL E G H | 282996 | 27424 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 363 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | RHBDF2 CL E G H | 79651 | 20788 | ORPHA:2198 | Palmoplantar keratoderma-esophageal carcinoma syndrome | HP:0040281 - Very frequent | | | 80 | | |
HP:0007556 | HP:0007447 | Diffuse palmoplantar hyperkeratosis | 2 | RHBDF2 CL E G H | 79651 | 20788 | OMIM:148500 | Tylosis with esophageal cancer | . | | | 80 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | RSPO1 CL E G H | 284654 | 21679 | OMIM:610644 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal | . | | | 3 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | RSPO1 CL E G H | 284654 | 21679 | ORPHA:85112 | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 77 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | SASH1 CL E G H | 23328 | 19182 | OMIM:618373 | Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | . | | | 1 | | |
HP:0007556 | HP:0000982 | Palmoplantar keratoderma | 2 | SCN5A CL E G H | 6331 | 10593 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 1134 | | |
HP:0007556 | |