Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | | | | 57 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | AAGAB CL E G H | 79719 | 25662 | OMIM:148600 | Palmoplantar keratoderma, punctate type IA | | | | 7 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 7 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 130 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | HP:0040281 - Very frequent | | | 130 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ABCA12 CL E G H | 26154 | 14637 | OMIM:601277 | Ichthyosis, congenital, autosomal recessive 4A | | | | 130 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 130 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ABCC9 CL E G H | 10060 | 60 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 254 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ACTC1 CL E G H | 70 | 143 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 208 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ACTN2 CL E G H | 88 | 164 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 307 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ADAM10 CL E G H | 102 | 188 | OMIM:615537 | Reticulate acropigmentation of kitamura | . | | | 7 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | | | | 165 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | | | | 54 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | . | | | 54 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ALDH3A2 CL E G H | 224 | 403 | ORPHA:816 | Sjögren-Larsson syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 75 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | . | | | 75 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 75 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 63 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | . | | | 63 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:606545 | Ichthyosis, congenital, autosomal recessive 3 | . | | | 63 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 63 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | | | | 2 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ANAPC1 CL E G H | 64682 | 19988 | OMIM:618625 | ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1 | | | | 2 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ANKRD1 CL E G H | 27063 | 15819 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 95 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | AP1B1 CL E G H | 162 | 554 | ORPHA:171851 | MEDNIK syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | AP1S1 CL E G H | 1174 | 559 | ORPHA:171851 | MEDNIK syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | AQP5 CL E G H | 362 | 638 | ORPHA:2337 | Non-epidermolytic palmoplantar keratoderma | | | | 5 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | AQP5 CL E G H | 362 | 638 | OMIM:600231 | PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB | | | | 5 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ASPRV1 CL E G H | 151516 | 26321 | OMIM:146750 | Ichthyosis, lamellar, autosomal dominant | . | | | 1 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ASPRV1 CL E G H | 151516 | 26321 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ATL1 CL E G H | 51062 | 11231 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040282 - Frequent | | | 71 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ATL3 CL E G H | 25923 | 24526 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040282 - Frequent | | | 5 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ATL3 CL E G H | 25923 | 24526 | OMIM:615632 | Neuropathy, hereditary sensory, type IF | . | | | 5 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ATP2A2 CL E G H | 488 | 812 | OMIM:101900 | Acrokeratosis verruciformis | . | | | 86 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ATP2A2 CL E G H | 488 | 812 | ORPHA:79151 | Acrokeratosis verruciformis of Hopf | HP:0040281 - Very frequent | | | 86 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ATP2A2 CL E G H | 488 | 812 | ORPHA:218 | Darier disease | | | | 86 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ATP2A2 CL E G H | 488 | 812 | OMIM:124200 | Darier-White disease | | | | 86 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ATP2C1 CL E G H | 27032 | 13211 | ORPHA:2841 | Familial benign chronic pemphigus | HP:0040281 - Very frequent | | | 56 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | BAG3 CL E G H | 9531 | 939 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 204 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | BAG5 CL E G H | 9529 | 941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CAP2 CL E G H | 10486 | 20039 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CARD14 CL E G H | 79092 | 16446 | ORPHA:2897 | Pityriasis rubra pilaris | | | | 33 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CARD14 CL E G H | 79092 | 16446 | OMIM:173200 | Pityriasis rubra pilaris | | | | 33 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CARD14 CL E G H | 79092 | 16446 | OMIM:602723 | PSORIASIS 2; PSORS2 | | | | 33 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CAST CL E G H | 831 | 1515 | OMIM:616295 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | . | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CD28 CL E G H | 940 | 1653 | ORPHA:2584 | Classic mycosis fungoides | HP:0040283 - Occasional | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CD28 CL E G H | 940 | 1653 | ORPHA:3162 | Sézary syndrome | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1573 | Hypotrichosis with juvenile macular degeneration | HP:0040283 - Occasional | | | 87 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CDSN CL E G H | 1041 | 1802 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 7 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CERS3 CL E G H | 204219 | 23752 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 5 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CERS3 CL E G H | 204219 | 23752 | OMIM:615023 | Ichthyosis, congenital, autosomal recessive 9 | | | | 5 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:498359 | Aquagenic palmoplantar keratoderma | | | | 1371 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CLEC7A CL E G H | 64581 | 14558 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 3 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | COG6 CL E G H | 57511 | 18621 | ORPHA:363523 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | | | | 71 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:615328 | Shaheen syndrome | | | | 71 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 2 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 129 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 442 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 442 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 478 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 478 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 702 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 702 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89843 | Dystrophic epidermolysis bullosa pruriginosa | HP:0040283 - Occasional | | | 263 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:131850 | Epidermolysis bullosa dystrophica, pretibial | . | | | 263 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158673 | Localized dystrophic epidermolysis bullosa, acral form | | | | 263 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79410 | Localized dystrophic epidermolysis bullosa, pretibial form | | | | 263 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CRYAB CL E G H | 1410 | 2389 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 46 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CSRP3 CL E G H | 8048 | 2472 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 104 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CSTA CL E G H | 1475 | 2481 | OMIM:607936 | Peeling skin syndrome 4 | . | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | | | | 160 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:2584 | Classic mycosis fungoides | HP:0040283 - Occasional | | | 10 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:3162 | Sézary syndrome | | | | 10 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CTSC CL E G H | 1075 | 2528 | OMIM:245010 | Haim-Munk syndrome | | | | 50 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | | | | 50 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CTSC CL E G H | 1075 | 2528 | OMIM:245000 | Papillon-Lefevre syndrome | | | | 50 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CYP4F22 CL E G H | 126410 | 26820 | OMIM:604777 | Ichthyosis, congenital, autosomal recessive 5 | | | | 54 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | CYP4F22 CL E G H | 126410 | 26820 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 54 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 30 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:618175 | WARBURG-CINOTTI SYNDROME; WRCN | | | | 45 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DES CL E G H | 1674 | 2770 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 263 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DIP2B CL E G H | 57609 | 29284 | OMIM:136630 | Mental retardation, Fra12a type | . | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | | | | 65 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1496 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | . | | | 5 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DOLK CL E G H | 22845 | 23406 | OMIM:610768 | Congenital disorder of glycosylation, type Im | | | | 55 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DOLK CL E G H | 22845 | 23406 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 55 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DSC2 CL E G H | 1824 | 3036 | OMIM:610476 | Arrhythmogenic right ventricular dysplasia, familial, 11 | | | | 268 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DSC3 CL E G H | 1825 | 3037 | OMIM:613102 | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | | | | 2 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DSG1 CL E G H | 1828 | 3048 | OMIM:615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | | | | 16 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DSG1 CL E G H | 1828 | 3048 | OMIM:148700 | Keratosis palmoplantaris striata I | | | | 16 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DSG1 CL E G H | 1828 | 3048 | ORPHA:50942 | Striate palmoplantar keratoderma | | | | 16 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DSG2 CL E G H | 1829 | 3049 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 358 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DSG4 CL E G H | 147409 | 21307 | OMIM:607903 | Hypotrichosis 6 | | | | 63 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DSG4 CL E G H | 147409 | 21307 | ORPHA:573 | Monilethrix | | | | 63 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DSP CL E G H | 1832 | 3052 | OMIM:605676 | Cardiomyopathy, dilated, with woolly hair and keratoderma | | | | 747 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DSP CL E G H | 1832 | 3052 | OMIM:615821 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | . | | | 747 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:65282 | Carvajal syndrome | | | | 747 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 747 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DSP CL E G H | 1832 | 3052 | OMIM:612908 | Keratosis palmoplantaris striata II | | | | 747 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DSP CL E G H | 1832 | 3052 | OMIM:607655 | Skin fragility-woolly hair syndrome | | | | 747 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:50942 | Striate palmoplantar keratoderma | | | | 747 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | HP:0040282 - Frequent | | | 14 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ECM1 CL E G H | 1893 | 3153 | OMIM:247100 | Urbach-Wiethe disease | | | | 14 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ELMO2 CL E G H | 63916 | 17233 | ORPHA:3019 | Ramon syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ELOVL1 CL E G H | 64834 | 14418 | OMIM:618527 | Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:614457 | Ichthyosis, spastic quadriplegia, and mental retardation | . | | | 62 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | . | | | 62 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:615522 | Cole disease | . | | | 151 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:90186 | Meige disease | | | | 3 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | . | | | 106 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 106 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 54 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 158 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 83 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | EXPH5 CL E G H | 23086 | 30578 | OMIM:615028 | Epidermolysis bullosa, nonspecific, autosomal recessive | . | | | 2 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | HP:0040283 - Occasional | | | 136 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | FERMT1 CL E G H | 55612 | 15889 | OMIM:173650 | Kindler syndrome | | | | 136 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | | | | 175 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | FHL2 CL E G H | 2274 | 3703 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 36 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | | | | 13 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | FKBP14 CL E G H | 55033 | 18625 | ORPHA:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | | | | 13 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 184 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | FLG CL E G H | 2312 | 3748 | ORPHA:461 | Recessive X-linked ichthyosis | HP:0040281 - Very frequent | | | 63 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | FLT4 CL E G H | 2324 | 3767 | OMIM:153100 | Lymphatic malformation 1 | | | | 90 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | FLT4 CL E G H | 2324 | 3767 | ORPHA:79452 | Milroy disease | HP:0040282 - Frequent | | | 90 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | FUCA1 CL E G H | 2517 | 4006 | ORPHA:349 | Fucosidosis | | | | 43 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GATAD1 CL E G H | 57798 | 29941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 35 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040281 - Very frequent | | | 68 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:617525 | Erythrokeratodermia variabilis et progressiva 3 | . | | | 68 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:104100 | Palmoplantar keratoderma with congenital alopecia | | | | 68 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | . | | | 199 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | . | | | 199 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:494 | Keratoderma hereditarium mutilans | HP:0040281 - Very frequent | | | 199 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148350 | Keratoderma, palmoplantar, with deafness | | | | 199 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:149200 | Knuckle pads, leukonychia, and sensorineural deafness | | | | 199 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2698 | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2202 | Palmoplantar keratoderma-deafness syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:124500 | VOHWINKEL SYNDROME; VOWNKL | | | | 199 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJB3 CL E G H | 2707 | 4285 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040281 - Very frequent | | | 74 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJB3 CL E G H | 2707 | 4285 | OMIM:133200 | Erythrokeratodermia variabilis et progressiva 1 | | | | 74 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJB4 CL E G H | 127534 | 4286 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040281 - Very frequent | | | 12 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJB4 CL E G H | 127534 | 4286 | OMIM:617524 | Erythrokeratodermia variabilis et progressiva 2 | | | | 12 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | | | | 56 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | | | | 56 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GJC2 CL E G H | 57165 | 17494 | ORPHA:79452 | Milroy disease | HP:0040282 - Frequent | | | 37 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040281 - Very frequent | | | 291 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GLS CL E G H | 2744 | 4331 | OMIM:618339 | Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | . | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | | | | 24 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | GRHL2 CL E G H | 79977 | 2799 | OMIM:616029 | Ectodermal dysplasia/short stature syndrome | . | | | 33 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | HAND2 CL E G H | 9464 | 4808 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 2 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | HDAC6 CL E G H | 10013 | 14064 | ORPHA:163966 | X-linked dominant chondrodysplasia, Chassaing-Lacombe type | HP:0040283 - Occasional | | | 2 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | HLA-DRA CL E G H | 3122 | 4947 | ORPHA:505 | Graham Little-Piccardi-Lassueur syndrome | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | HPGD CL E G H | 3248 | 5154 | OMIM:259100 | Hypertrophic osteoarthropathy, primary, autosomal recessive 1 | | | | 55 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | | | | 55 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040282 - Frequent | | | 52 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | IL17F CL E G H | 112744 | 16404 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 14 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | IL17RA CL E G H | 23765 | 5985 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 196 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | IL17RC CL E G H | 84818 | 18358 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:2297 | Insulin-resistance syndrome type A | HP:0040281 - Very frequent | | | 229 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040281 - Very frequent | | | 229 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 124 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | | | | 222 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | JUP CL E G H | 3728 | 6207 | ORPHA:34217 | Naxos disease | | | | 222 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KANK2 CL E G H | 25959 | 29300 | OMIM:616099 | Palmoplantar keratoderma and woolly hair | | | | 1 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KDF1 CL E G H | 126695 | 26624 | OMIM:617337 | Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type | . | | | 1 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KDSR CL E G H | 2531 | 4021 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040281 - Very frequent | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KDSR CL E G H | 2531 | 4021 | OMIM:617526 | Erythrokeratodermia variabilis et progressiva 4 | . | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KDSR CL E G H | 2531 | 4021 | ORPHA:316 | Progressive symmetric erythrokeratodermia | | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KITLG CL E G H | 4254 | 6343 | OMIM:145250 | Hyperpigmentation, familial progressive | . | | | 9 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | | | | 5 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | HP:0040281 - Very frequent | | | 100 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:113800 | Epidermolytic hyperkeratosis | | | | 100 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 100 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:79503 | Ichthyosis hystrix of Curth-Macklin | HP:0040281 - Very frequent | | | 100 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:607654 | KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3 | | | | 100 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:530838 | KRT1-related diffuse nonepidermolytic keratoderma | | | | 100 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:144200 | Palmoplantar keratoderma, epidermolytic | | | | 100 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:600962 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK | | | | 100 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:50942 | Striate palmoplantar keratoderma | | | | 100 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT10 CL E G H | 3858 | 6413 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | HP:0040281 - Very frequent | | | 45 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:113800 | Epidermolytic hyperkeratosis | | | | 45 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:609165 | Erythroderma, ichthyosiform, congenital reticular | . | | | 45 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:607602 | Ichthyosis, cyclic, with epidermolytic hyperkeratosis | | | | 45 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT13 CL E G H | 3860 | 6415 | OMIM:615785 | White sponge nevus 2 | | | | 46 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | HP:0040281 - Very frequent | | | 110 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | | | | 110 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:89838 | Autosomal recessive generalized epidermolysis bullosa simplex | HP:0040282 - Frequent | | | 110 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:125595 | Dermatopathia pigmentosa reticularis | | | | 110 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | | | | 110 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | | | | 110 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:131900 | Epidermolysis bullosa simplex, Koebner type | | | | 110 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:79400 | Localized epidermolysis bullosa simplex | | | | 110 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | OMIM:161000 | Naegeli syndrome | | | | 110 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT14 CL E G H | 3861 | 6416 | ORPHA:69087 | Naegeli-Franceschetti-Jadassohn syndrome | | | | 110 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 27 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | | | | 27 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT16 CL E G H | 3868 | 6423 | OMIM:167200 | Pachyonychia congenita, type 1 | | | | 27 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT16 CL E G H | 3868 | 6423 | OMIM:613000 | Palmoplantar keratoderma, nonepidermolytic, focal 1 | | | | 27 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | | | | 23 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT17 CL E G H | 3872 | 6427 | OMIM:167210 | Pachyonychia congenita 2 | | | | 23 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT2 CL E G H | 3849 | 6439 | ORPHA:455 | Superficial epidermolytic ichthyosis | | | | 67 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79399 | Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form | HP:0040281 - Very frequent | | | 173 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79396 | Autosomal dominant generalized epidermolysis bullosa simplex, severe form | | | | 173 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79145 | Dowling-Degos disease | HP:0040282 - Frequent | | | 173 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:619555 | EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A | | | | 173 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131960 | Epidermolysis bullosa simplex with mottled pigmentation | | | | 173 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79397 | Epidermolysis bullosa simplex with mottled pigmentation | | | | 173 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT5 CL E G H | 3852 | 6442 | OMIM:131760 | Epidermolysis bullosa simplex, Dowling-Meara type | | | | 173 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT5 CL E G H | 3852 | 6442 | ORPHA:79400 | Localized epidermolysis bullosa simplex | | | | 173 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | | | | 41 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT6A CL E G H | 3853 | 6443 | OMIM:615726 | Pachyonychia congenita 3 | . | | | 41 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT6B CL E G H | 3854 | 6444 | OMIM:615728 | Pachyonychia congenita 4 | . | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT6C CL E G H | 286887 | 20406 | OMIM:615735 | Palmoplantar keratoderma, nonepidermolytic, focal or diffuse | | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT74 CL E G H | 121391 | 28929 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 5 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT81 CL E G H | 3887 | 6458 | ORPHA:573 | Monilethrix | | | | 3 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT81 CL E G H | 3887 | 6458 | OMIM:158000 | MONILETHRIX | | | | 3 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT83 CL E G H | 3889 | 6460 | OMIM:617756 | Erythrokeratodermia variabilis et progressiva 5 | . | | | 65 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT83 CL E G H | 3889 | 6460 | ORPHA:573 | Monilethrix | | | | 65 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT83 CL E G H | 3889 | 6460 | OMIM:158000 | MONILETHRIX | | | | 65 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT83 CL E G H | 3889 | 6460 | ORPHA:316 | Progressive symmetric erythrokeratodermia | | | | 65 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT86 CL E G H | 3892 | 6463 | ORPHA:573 | Monilethrix | | | | 10 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT86 CL E G H | 3892 | 6463 | OMIM:158000 | MONILETHRIX | | | | 10 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT9 CL E G H | 3857 | 6447 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 66 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | KRT9 CL E G H | 3857 | 6447 | OMIM:144200 | Palmoplantar keratoderma, epidermolytic | | | | 66 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 116 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LAMA4 CL E G H | 3910 | 6484 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 279 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LAMB3 CL E G H | 3914 | 6490 | OMIM:226650 | Epidermolysis bullosa, junctional, Non-Herlitz type | | | | 167 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 167 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 135 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LDB3 CL E G H | 11155 | 15710 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 286 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1306 | Buschke-Ollendorff syndrome | | | | 68 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LIPN CL E G H | 643418 | 23452 | OMIM:613943 | Ichthyosis, congenital, autosomal recessive 8 | . | | | 1 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LIPN CL E G H | 643418 | 23452 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 645 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | | | | 645 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:316 | Progressive symmetric erythrokeratodermia | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LORICRIN CL E G H | 4014 | 6663 | OMIM:604117 | Vohwinkel syndrome, variant form | . | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LRP1 CL E G H | 4035 | 6692 | ORPHA:79100 | Atrophoderma vermiculata | | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:615279 | Cardiofaciocutaneous syndrome 3 | | | | 134 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | | | | 22 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308800 | Keratosis follicularis spinulosa decalvans, X-linked | | | | 22 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | | | | 22 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:300918 | Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked | . | | | 22 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MCOLN1 CL E G H | 57192 | 13356 | ORPHA:578 | Mucolipidosis type IV | | | | 78 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MDFIC CL E G H | 29969 | 28870 | OMIM:620014 | | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MPDU1 CL E G H | 9526 | 7207 | OMIM:609180 | Congenital disorder of glycosylation, type IF | . | | | 32 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:735 | Porokeratosis of Mibelli | HP:0040281 - Very frequent | | | 150 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MYBPC3 CL E G H | 4607 | 7551 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1143 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MYH6 CL E G H | 4624 | 7576 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 452 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1269 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 217 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79279 | Alpha-N-acetylgalactosaminidase deficiency type 1 | HP:0040282 - Frequent | | | 47 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79280 | Alpha-N-acetylgalactosaminidase deficiency type 2 | HP:0040281 - Very frequent | | | 47 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | . | | | 47 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NECTIN1 CL E G H | 5818 | 9706 | OMIM:225060 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NECTIN4 CL E G H | 81607 | 19688 | OMIM:613573 | Ectodermal dysplasia-syndactyly syndrome 1 | | | | 7 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | HP:0040281 - Very frequent | | | 43 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NEXN CL E G H | 91624 | 29557 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 167 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | | | | 27 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | | | | 27 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 60 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NIPAL4 CL E G H | 348938 | 28018 | OMIM:612281 | Ichthyosis, congenital, autosomal recessive 6 | . | | | 60 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 60 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:615225 | Palmoplantar carcinoma, multiple self-healing | | | | 37 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | | | | 17 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NOP10 CL E G H | 55505 | 14378 | OMIM:224230 | Dyskeratosis congenita, autosomal recessive 1 | | | | 17 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | | | | 12 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | | | | 26 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:601812 | Premature aging syndrome, Penttinen type | . | | | 28 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | HP:0040281 - Very frequent | | | 66 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PERP CL E G H | 64065 | 17637 | OMIM:619209 | ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7 | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PERP CL E G H | 64065 | 17637 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PERP CL E G H | 64065 | 17637 | OMIM:619208 | OLMSTED SYNDROME 2; OLMS2 | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | | | | 36 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:201 | Cowden syndrome | | | | 162 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | | | | 162 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:276280 | Hemihyperplasia-multiple lipomatosis syndrome | | | | 162 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | | | | 107 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PKP1 CL E G H | 5317 | 9023 | OMIM:604536 | ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME | | | | 107 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:226670 | Epidermolysis bullosa simplex with muscular dystrophy | | | | 759 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:616487 | Epidermolysis bullosa simplex with nail dystrophy | | | | 759 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:79401 | PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement | | | | 759 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PLN CL E G H | 5350 | 9080 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 57 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | | | | 105 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PMVK CL E G H | 10654 | 9141 | ORPHA:735 | Porokeratosis of Mibelli | HP:0040281 - Very frequent | | | 3 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PNPLA1 CL E G H | 285848 | 21246 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 47 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PNPLA1 CL E G H | 285848 | 21246 | OMIM:615024 | Ichthyosis, congenital, autosomal recessive 10 | | | | 47 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | POFUT1 CL E G H | 23509 | 14988 | ORPHA:79145 | Dowling-Degos disease | HP:0040282 - Frequent | | | 2 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | POFUT1 CL E G H | 23509 | 14988 | OMIM:615327 | Dowling-Degos disease 2 | | | | 2 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | POGLUT1 CL E G H | 56983 | 22954 | ORPHA:79145 | Dowling-Degos disease | HP:0040282 - Frequent | | | 6 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301220 | PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR | | | | 2 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | POMP CL E G H | 51371 | 20330 | OMIM:601952 | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | | | | 2 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | POMP CL E G H | 51371 | 20330 | ORPHA:281201 | Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | | | | 2 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PPCS CL E G H | 79717 | 25686 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 148 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 241 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 59 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PSENEN CL E G H | 55851 | 30100 | OMIM:613736 | Acne inversa, familial, 2, with or without dowling-degos disease | | | | 2 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PSENEN CL E G H | 55851 | 30100 | ORPHA:79145 | Dowling-Degos disease | HP:0040282 - Frequent | | | 2 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:201 | Cowden syndrome | | | | 948 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | | | | 948 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 212 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | RBM20 CL E G H | 282996 | 27424 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 363 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | | | | 445 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | RHBDF2 CL E G H | 79651 | 20788 | ORPHA:2198 | Palmoplantar keratoderma-esophageal carcinoma syndrome | | | | 80 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | RHBDF2 CL E G H | 79651 | 20788 | OMIM:148500 | Tylosis with esophageal cancer | | | | 80 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | RIGI CL E G H | 23586 | 19102 | OMIM:616298 | Singleton-Merten syndrome 2 | . | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | RIT1 CL E G H | 6016 | 10023 | OMIM:615355 | NOONAN SYNDROME 8; NS8 | | | | 39 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0000962 | HP:0000962 | 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:0000962 | HP:0000962 | Hyperkeratosis | 0 | RSPO1 CL E G H | 284654 | 21679 | ORPHA:85112 | Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome | | | | 3 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | | | | 77 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SASH1 CL E G H | 23328 | 19182 | OMIM:618373 | Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | | | | 1 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1134 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 304 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:201 | Cowden syndrome | | | | 237 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:201 | Cowden syndrome | | | | 147 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:201 | Cowden syndrome | | | | 129 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SDR9C7 CL E G H | 121214 | 29958 | OMIM:617574 | Ichthyosis, congenital, autosomal recessive 13 | . | | | 2 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SDR9C7 CL E G H | 121214 | 29958 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SEC23B CL E G H | 10483 | 10702 | ORPHA:201 | Cowden syndrome | | | | 60 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SERPINA12 CL E G H | 145264 | 18359 | ORPHA:86923 | Hereditary palmoplantar keratoderma, Gamborg-Nielsen type | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SERPINB7 CL E G H | 8710 | 13902 | OMIM:615598 | Palmoplantar keratoderma, Nagashima type | | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SERPINB7 CL E G H | 8710 | 13902 | ORPHA:140966 | Palmoplantar keratoderma, Nagashima type | | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SERPINB8 CL E G H | 5271 | 8952 | OMIM:617115 | Peeling skin syndrome 5 | . | | | 3 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SGCD CL E G H | 6444 | 10807 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 223 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SLC27A4 CL E G H | 10999 | 10998 | OMIM:608649 | ICHTHYOSIS PREMATURITY SYNDROME; IPS | | | | 26 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | | | | 13 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SLURP1 CL E G H | 57152 | 18746 | ORPHA:86923 | Hereditary palmoplantar keratoderma, Gamborg-Nielsen type | | | | 15 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SLURP1 CL E G H | 57152 | 18746 | ORPHA:87503 | Mal de Meleda | | | | 15 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SLURP1 CL E G H | 57152 | 18746 | OMIM:248300 | Meleda disease | | | | 15 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:129200 | Basan syndrome | | | | 6 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:136000 | Fingerprints, absence of | | | | 6 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SMARCAD1 CL E G H | 56916 | 18398 | ORPHA:384 | Huriez syndrome | | | | 6 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SMARCAD1 CL E G H | 56916 | 18398 | OMIM:181600 | Huriez syndrome | | | | 6 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SNAP29 CL E G H | 9342 | 11133 | ORPHA:66631 | CEDNIK syndrome | | | | 94 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SNAP29 CL E G H | 9342 | 11133 | OMIM:609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | | | | 94 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | | | | 7 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040282 - Frequent | | | 54 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SPTLC2 CL E G H | 9517 | 11278 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040282 - Frequent | | | 149 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | . | | | 80 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | | | | 80 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | | | | 1 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | . | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | STS CL E G H | 412 | 11425 | OMIM:308100 | Ichthyosis, X-linked | | | | 19 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | STS CL E G H | 412 | 11425 | ORPHA:461 | Recessive X-linked ichthyosis | HP:0040281 - Very frequent | | | 19 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | STS CL E G H | 412 | 11425 | ORPHA:281090 | Syndromic recessive X-linked ichthyosis | HP:0040281 - Very frequent | | | 19 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SULT2B1 CL E G H | 6820 | 11459 | OMIM:617571 | Ichthyosis, congenital, autosomal recessive 14 | . | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | SULT2B1 CL E G H | 6820 | 11459 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TAF1A CL E G H | 9015 | 11532 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TAFAZZIN CL E G H | 6901 | 11577 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TARS1 CL E G H | 6897 | 11572 | OMIM:618546 | Trichothiodystrophy 7, nonphotosensitive | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TAT CL E G H | 6898 | 11573 | ORPHA:28378 | Tyrosinemia type 2 | HP:0040281 - Very frequent | | | 43 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TCAP CL E G H | 8557 | 11610 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 78 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | | | | 48 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | | | | 238 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | | | | 238 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:100976 | Bathing suit ichthyosis | | | | 98 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 98 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TGM1 CL E G H | 7051 | 11777 | OMIM:242300 | Ichthyosis, congenital, autosomal recessive 1 | | | | 98 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 98 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | | | | 60 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TMPO CL E G H | 7112 | 11875 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 136 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TMPRSS6 CL E G H | 164656 | 16517 | ORPHA:209981 | IRIDA syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:2584 | Classic mycosis fungoides | HP:0040283 - Occasional | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:3162 | Sézary syndrome | | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TNNC1 CL E G H | 7134 | 11943 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 73 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TNNI3 CL E G H | 7137 | 11947 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 180 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TNNT2 CL E G H | 7139 | 11949 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 248 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:106260 | Ankyloblepharon-Ectodermal defects-cleft lip/palate | | | | 140 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | | | | 140 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TPM1 CL E G H | 7168 | 12010 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 230 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TRAF3IP2 CL E G H | 10758 | 1343 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | | | | 27 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TRIP4 CL E G H | 9325 | 12310 | ORPHA:486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:617066 | Muscular dystrophy, congenital, Davignon-Chauveau type | | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:2202 | Palmoplantar keratoderma-deafness syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TRPM4 CL E G H | 54795 | 17993 | ORPHA:316 | Progressive symmetric erythrokeratodermia | | | | 124 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TRPV3 CL E G H | 162514 | 18084 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | | | | 151 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TRPV3 CL E G H | 162514 | 18084 | OMIM:614594 | Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques | | | | 151 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TRPV3 CL E G H | 162514 | 18084 | OMIM:616400 | Palmoplantar keratoderma, nonepidermolytic, focal 2 | . | | | 151 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 7128 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 85 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | | | | 1 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79431 | Oculocutaneous albinism type 1A | HP:0040283 - Occasional | | | 146 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | | | | 8 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | USF3 CL E G H | 205717 | 30494 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | VCL CL E G H | 7414 | 12665 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 248 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | VEGFC CL E G H | 7424 | 12682 | OMIM:615907 | Lymphedema, hereditary, ID | . | | | 4 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:620009 | | | | | 63 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:257980 | Odontoonychodermal dysplasia | | | | 71 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:50944 | Schöpf-Schulz-Passarge syndrome | | | | 71 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:224750 | Schopf-Schulz-Passarge syndrome | | | | 71 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | WNT10A CL E G H | 80326 | 13829 | OMIM:150400 | Tooth agenesis, selective, 4 | | | | 71 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | | | | 40 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040282 - Frequent | | | 310 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 34 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040282 - Frequent | | | 86 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | | | | 19 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | | | | 83 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | | | | 83 | | |
HP:0000962 | HP:0000962 | Hyperkeratosis | 0 | ZNF750 CL E G H | 79755 | 25843 | OMIM:610227 | Seborrhea-Like dermatitis with psoriasiform elements | . | | | 2 | | |
HP:0000962 | HP:0008399 | Circumungual hyperkeratosis | 1 | CL E G H | | | | | | | | | | |
HP:0000962 | HP:0007570 | Hyperkeratosis lenticularis perstans | 1 | CL E G H | | | | | | | | | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | | | | 57 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | AAGAB CL E G H | 79719 | 25662 | OMIM:148600 | Palmoplantar keratoderma, punctate type IA | | | | 7 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | AAGAB CL E G H | 79719 | 25662 | OMIM:148600 | Palmoplantar keratoderma, punctate type IA | | | | 7 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 7 | | |
HP:0000962 | HP:0045059 | Hyperkeratotic papule | 1 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040281 - Very frequent | | | 7 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | AAGAB CL E G H | 79719 | 25662 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 7 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 130 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 130 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | ABCA12 CL E G H | 26154 | 14637 | OMIM:601277 | Ichthyosis, congenital, autosomal recessive 4A | | | | 130 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | ABCA12 CL E G H | 26154 | 14637 | OMIM:601277 | Ichthyosis, congenital, autosomal recessive 4A | | | | 130 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | ABCC9 CL E G H | 10060 | 60 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 254 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | ABCC9 CL E G H | 10060 | 60 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 254 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | ACTC1 CL E G H | 70 | 143 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 208 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | ACTC1 CL E G H | 70 | 143 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 208 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | ACTN2 CL E G H | 88 | 164 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 307 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | ACTN2 CL E G H | 88 | 164 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 307 | | |
HP:0000962 | HP:0000222 | Gingival hyperkeratosis | 1 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | | | | 54 | | |
HP:0000962 | HP:0005595 | Generalized hyperkeratosis | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | | | | 54 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | | | | 54 | | |
HP:0000962 | HP:0005595 | Generalized hyperkeratosis | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | ALOX12B CL E G H | 242 | 430 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 75 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | ALOX12B CL E G H | 242 | 430 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 75 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | | | | 75 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | | | | 75 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 63 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 63 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | | | | 63 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | | | | 63 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:606545 | Ichthyosis, congenital, autosomal recessive 3 | | | | 63 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:606545 | Ichthyosis, congenital, autosomal recessive 3 | | | | 63 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | ANKRD1 CL E G H | 27063 | 15819 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 95 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | ANKRD1 CL E G H | 27063 | 15819 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 95 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | | | | | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | | | | | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | AQP5 CL E G H | 362 | 638 | ORPHA:2337 | Non-epidermolytic palmoplantar keratoderma | | | | 5 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | AQP5 CL E G H | 362 | 638 | ORPHA:2337 | Non-epidermolytic palmoplantar keratoderma | | | | 5 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | AQP5 CL E G H | 362 | 638 | OMIM:600231 | PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB | | | | 5 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | AQP5 CL E G H | 362 | 638 | OMIM:600231 | PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB | | | | 5 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | ATP2A2 CL E G H | 488 | 812 | OMIM:101900 | Acrokeratosis verruciformis | | | | 86 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | ATP2A2 CL E G H | 488 | 812 | OMIM:101900 | Acrokeratosis verruciformis | | | | 86 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | ATP2A2 CL E G H | 488 | 812 | ORPHA:79151 | Acrokeratosis verruciformis of Hopf | | | | 86 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | ATP2A2 CL E G H | 488 | 812 | ORPHA:79151 | Acrokeratosis verruciformis of Hopf | | | | 86 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | ATP2A2 CL E G H | 488 | 812 | ORPHA:218 | Darier disease | | | | 86 | | |
HP:0000962 | HP:0008410 | Subungual hyperkeratotic fragments | 1 | ATP2A2 CL E G H | 488 | 812 | ORPHA:218 | Darier disease | HP:0040281 - Very frequent | | | 86 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | ATP2A2 CL E G H | 488 | 812 | ORPHA:218 | Darier disease | | | | 86 | | |
HP:0000962 | HP:0008410 | Subungual hyperkeratotic fragments | 1 | ATP2A2 CL E G H | 488 | 812 | OMIM:124200 | Darier-White disease | . | | | 86 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | BAG3 CL E G H | 9531 | 939 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 204 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | BAG3 CL E G H | 9531 | 939 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 204 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | BAG5 CL E G H | 9529 | 941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | BAG5 CL E G H | 9529 | 941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0000962 | HP:0007543 | Epidermal hyperkeratosis | 1 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | CAP2 CL E G H | 10486 | 20039 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | CAP2 CL E G H | 10486 | 20039 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | CARD14 CL E G H | 79092 | 16446 | OMIM:173200 | Pityriasis rubra pilaris | | | | 33 | | |
HP:0000962 | HP:0008392 | Subungual hyperkeratosis | 1 | CARD14 CL E G H | 79092 | 16446 | ORPHA:2897 | Pityriasis rubra pilaris | HP:0040282 - Frequent | | | 33 | | |
HP:0000962 | HP:0008392 | Subungual hyperkeratosis | 1 | CARD14 CL E G H | 79092 | 16446 | OMIM:173200 | Pityriasis rubra pilaris | . | | | 33 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | CARD14 CL E G H | 79092 | 16446 | OMIM:173200 | Pityriasis rubra pilaris | | | | 33 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | CARD14 CL E G H | 79092 | 16446 | ORPHA:2897 | Pityriasis rubra pilaris | | | | 33 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | CARD14 CL E G H | 79092 | 16446 | ORPHA:2897 | Pityriasis rubra pilaris | | | | 33 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | CAST CL E G H | 831 | 1515 | OMIM:616295 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | | | | 4 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | CAST CL E G H | 831 | 1515 | OMIM:616295 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | | | | 4 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | CD28 CL E G H | 940 | 1653 | ORPHA:3162 | Sézary syndrome | | | | | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | CD28 CL E G H | 940 | 1653 | ORPHA:3162 | Sézary syndrome | | | | | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | CERS3 CL E G H | 204219 | 23752 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 5 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | CERS3 CL E G H | 204219 | 23752 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | | | | 5 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | CFTR CL E G H | 1080 | 1884 | ORPHA:498359 | Aquagenic palmoplantar keratoderma | | | | 1371 | | |
HP:0000962 | HP:0025080 | Orthokeratotic hyperkeratosis | 1 | CFTR CL E G H | 1080 | 1884 | ORPHA:498359 | Aquagenic palmoplantar keratoderma | HP:0040282 - Frequent | | | 1371 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | CFTR CL E G H | 1080 | 1884 | ORPHA:498359 | Aquagenic palmoplantar keratoderma | | | | 1371 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | COG6 CL E G H | 57511 | 18621 | ORPHA:363523 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | | | | 71 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | COG6 CL E G H | 57511 | 18621 | ORPHA:363523 | Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome | | | | 71 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | COG6 CL E G H | 57511 | 18621 | OMIM:615328 | Shaheen syndrome | | | | 71 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | COG6 CL E G H | 57511 | 18621 | OMIM:615328 | Shaheen syndrome | | | | 71 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 2 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | | | | 2 | | |
HP:0000962 | HP:0045059 | Hyperkeratotic papule | 1 | COL14A1 CL E G H | 7373 | 2191 | ORPHA:79501 | Punctate palmoplantar keratoderma type 1 | HP:0040281 - Very frequent | | | 2 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 129 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | COL17A1 CL E G H | 1308 | 2194 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 129 | | |
HP:0000962 | HP:0007502 | Follicular hyperkeratosis | 1 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 442 | | |
HP:0000962 | HP:0007502 | Follicular hyperkeratosis | 1 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 478 | | |
HP:0000962 | HP:0007502 | Follicular hyperkeratosis | 1 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 702 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158673 | Localized dystrophic epidermolysis bullosa, acral form | | | | 263 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:158673 | Localized dystrophic epidermolysis bullosa, acral form | | | | 263 | | |
HP:0000962 | HP:0045059 | Hyperkeratotic papule | 1 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79410 | Localized dystrophic epidermolysis bullosa, pretibial form | HP:0040283 - Occasional | | | 263 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | CRYAB CL E G H | 1410 | 2389 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 46 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | CRYAB CL E G H | 1410 | 2389 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 46 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | CSRP3 CL E G H | 8048 | 2472 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 104 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | CSRP3 CL E G H | 8048 | 2472 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 104 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | CSTA CL E G H | 1475 | 2481 | OMIM:607936 | Peeling skin syndrome 4 | | | | 4 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | CSTA CL E G H | 1475 | 2481 | OMIM:607936 | Peeling skin syndrome 4 | | | | 4 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | | | | 160 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | | | | 160 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:3162 | Sézary syndrome | | | | 10 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:3162 | Sézary syndrome | | | | 10 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | CTSC CL E G H | 1075 | 2528 | OMIM:245010 | Haim-Munk syndrome | | | | 50 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | CTSC CL E G H | 1075 | 2528 | OMIM:245010 | Haim-Munk syndrome | | | | 50 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | | | | 50 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | | | | 50 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | CTSC CL E G H | 1075 | 2528 | OMIM:245000 | Papillon-Lefevre syndrome | | | | 50 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | CTSC CL E G H | 1075 | 2528 | OMIM:245000 | Papillon-Lefevre syndrome | | | | 50 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | CYP4F22 CL E G H | 126410 | 26820 | OMIM:604777 | Ichthyosis, congenital, autosomal recessive 5 | | | | 54 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | CYP4F22 CL E G H | 126410 | 26820 | OMIM:604777 | Ichthyosis, congenital, autosomal recessive 5 | | | | 54 | | |
HP:0000962 | HP:0007502 | Follicular hyperkeratosis | 1 | DDR2 CL E G H | 4921 | 2731 | OMIM:618175 | WARBURG-CINOTTI SYNDROME; WRCN | | | | 45 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | DES CL E G H | 1674 | 2770 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 263 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | DES CL E G H | 1674 | 2770 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 263 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | | | | 65 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | | | | 65 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | DMD CL E G H | 1756 | 2928 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1496 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | DMD CL E G H | 1756 | 2928 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1496 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | DOLK CL E G H | 22845 | 23406 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 55 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | DOLK CL E G H | 22845 | 23406 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 55 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | DSC2 CL E G H | 1824 | 3036 | OMIM:610476 | Arrhythmogenic right ventricular dysplasia, familial, 11 | | | | 268 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | DSC2 CL E G H | 1824 | 3036 | OMIM:610476 | Arrhythmogenic right ventricular dysplasia, familial, 11 | | | | 268 | | |
HP:0000962 | HP:0007502 | Follicular hyperkeratosis | 1 | DSC3 CL E G H | 1825 | 3037 | OMIM:613102 | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | | | | 2 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | DSG1 CL E G H | 1828 | 3048 | OMIM:615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | | | | 16 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | DSG1 CL E G H | 1828 | 3048 | OMIM:615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | | | | 16 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | DSG1 CL E G H | 1828 | 3048 | OMIM:148700 | Keratosis palmoplantaris striata I | | | | 16 | | |
HP:0000962 | HP:0007501 | Streaks of hyperkeratosis along each finger onto the palm | 1 | DSG1 CL E G H | 1828 | 3048 | OMIM:148700 | Keratosis palmoplantaris striata I | | | | 16 | | |
HP:0000962 | HP:0025080 | Orthokeratotic hyperkeratosis | 1 | DSG1 CL E G H | 1828 | 3048 | OMIM:148700 | Keratosis palmoplantaris striata I | | | | 16 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | DSG1 CL E G H | 1828 | 3048 | OMIM:148700 | Keratosis palmoplantaris striata I | | | | 16 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | DSG1 CL E G H | 1828 | 3048 | ORPHA:50942 | Striate palmoplantar keratoderma | | | | 16 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | DSG1 CL E G H | 1828 | 3048 | ORPHA:50942 | Striate palmoplantar keratoderma | | | | 16 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | DSG2 CL E G H | 1829 | 3049 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 358 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | DSG2 CL E G H | 1829 | 3049 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 358 | | |
HP:0000962 | HP:0007502 | Follicular hyperkeratosis | 1 | DSG4 CL E G H | 147409 | 21307 | OMIM:607903 | Hypotrichosis 6 | . | | | 63 | | |
HP:0000962 | HP:0007502 | Follicular hyperkeratosis | 1 | DSG4 CL E G H | 147409 | 21307 | ORPHA:573 | Monilethrix | HP:0040281 - Very frequent | | | 63 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | OMIM:605676 | Cardiomyopathy, dilated, with woolly hair and keratoderma | | | | 747 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | OMIM:605676 | Cardiomyopathy, dilated, with woolly hair and keratoderma | | | | 747 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | OMIM:615821 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | | | | 747 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | OMIM:615821 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | | | | 747 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | ORPHA:65282 | Carvajal syndrome | | | | 747 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | ORPHA:65282 | Carvajal syndrome | | | | 747 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 747 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 747 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | OMIM:612908 | Keratosis palmoplantaris striata II | | | | 747 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | OMIM:612908 | Keratosis palmoplantaris striata II | | | | 747 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | OMIM:607655 | Skin fragility-woolly hair syndrome | | | | 747 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | OMIM:607655 | Skin fragility-woolly hair syndrome | | | | 747 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | ORPHA:50942 | Striate palmoplantar keratoderma | | | | 747 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | DSP CL E G H | 1832 | 3052 | ORPHA:50942 | Striate palmoplantar keratoderma | | | | 747 | | |
HP:0000962 | HP:0007543 | Epidermal hyperkeratosis | 1 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | | | | 62 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | ENPP1 CL E G H | 5167 | 3356 | OMIM:615522 | Cole disease | | | | 151 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | ENPP1 CL E G H | 5167 | 3356 | OMIM:615522 | Cole disease | | | | 151 | | |
HP:0000962 | HP:0031288 | Cobblestone-like hyperkeratosis | 1 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:90186 | Meige disease | HP:0040282 - Frequent | | | 3 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | | | | 136 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | | | | 136 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | FERMT1 CL E G H | 55612 | 15889 | OMIM:173650 | Kindler syndrome | | | | 136 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | FERMT1 CL E G H | 55612 | 15889 | OMIM:173650 | Kindler syndrome | | | | 136 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | | | | 175 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | | | | 175 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | FHL2 CL E G H | 2274 | 3703 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 36 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | FHL2 CL E G H | 2274 | 3703 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 36 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0000962 | HP:0007502 | Follicular hyperkeratosis | 1 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | . | | | 13 | | |
HP:0000962 | HP:0007502 | Follicular hyperkeratosis | 1 | FKBP14 CL E G H | 55033 | 18625 | ORPHA:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | HP:0040281 - Very frequent | | | 13 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 184 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 184 | | |
HP:0000962 | HP:0007448 | Hyperkeratosis over edematous areas | 1 | FLT4 CL E G H | 2324 | 3767 | OMIM:153100 | Lymphatic malformation 1 | . | | | 90 | | |
HP:0000962 | HP:0005595 | Generalized hyperkeratosis | 1 | FUCA1 CL E G H | 2517 | 4006 | ORPHA:349 | Fucosidosis | HP:0040281 - Very frequent | | | 43 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GATAD1 CL E G H | 57798 | 29941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 35 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GATAD1 CL E G H | 57798 | 29941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 35 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | | | | 68 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:317 | Erythrokeratodermia variabilis | | | | 68 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:317 | Erythrokeratodermia variabilis | | | | 68 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:617525 | Erythrokeratodermia variabilis et progressiva 3 | | | | 68 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:617525 | Erythrokeratodermia variabilis et progressiva 3 | | | | 68 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:104100 | Palmoplantar keratoderma with congenital alopecia | | | | 68 | | |
HP:0000962 | HP:0007543 | Epidermal hyperkeratosis | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:104100 | Palmoplantar keratoderma with congenital alopecia | | | | 68 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:104100 | Palmoplantar keratoderma with congenital alopecia | | | | 68 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | | | | 199 | | |
HP:0000962 | HP:0031288 | Cobblestone-like hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | | | | 199 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | | | | 199 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:494 | Keratoderma hereditarium mutilans | | | | 199 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:494 | Keratoderma hereditarium mutilans | | | | 199 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:148350 | Keratoderma, palmoplantar, with deafness | | | | 199 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:148350 | Keratoderma, palmoplantar, with deafness | | | | 199 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0000962 | HP:0007502 | Follicular hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:149200 | Knuckle pads, leukonychia, and sensorineural deafness | | | | 199 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:149200 | Knuckle pads, leukonychia, and sensorineural deafness | | | | 199 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2698 | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | | | | 199 | | |
HP:0000962 | HP:0045059 | Hyperkeratotic papule | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2698 | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | | | | 199 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2698 | Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome | | | | 199 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2202 | Palmoplantar keratoderma-deafness syndrome | | | | 199 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:2202 | Palmoplantar keratoderma-deafness syndrome | | | | 199 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:124500 | VOHWINKEL SYNDROME; VOWNKL | | | | 199 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJB2 CL E G H | 2706 | 4284 | OMIM:124500 | VOHWINKEL SYNDROME; VOWNKL | | | | 199 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJB3 CL E G H | 2707 | 4285 | ORPHA:317 | Erythrokeratodermia variabilis | | | | 74 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJB3 CL E G H | 2707 | 4285 | ORPHA:317 | Erythrokeratodermia variabilis | | | | 74 | | |
HP:0000962 | HP:0005595 | Generalized hyperkeratosis | 1 | GJB3 CL E G H | 2707 | 4285 | OMIM:133200 | Erythrokeratodermia variabilis et progressiva 1 | | | | 74 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJB3 CL E G H | 2707 | 4285 | OMIM:133200 | Erythrokeratodermia variabilis et progressiva 1 | | | | 74 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJB3 CL E G H | 2707 | 4285 | OMIM:133200 | Erythrokeratodermia variabilis et progressiva 1 | | | | 74 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJB4 CL E G H | 127534 | 4286 | ORPHA:317 | Erythrokeratodermia variabilis | | | | 12 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJB4 CL E G H | 127534 | 4286 | ORPHA:317 | Erythrokeratodermia variabilis | | | | 12 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJB4 CL E G H | 127534 | 4286 | OMIM:617524 | Erythrokeratodermia variabilis et progressiva 2 | | | | 12 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJB4 CL E G H | 127534 | 4286 | OMIM:617524 | Erythrokeratodermia variabilis et progressiva 2 | | | | 12 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | | | | 56 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJB6 CL E G H | 10804 | 4288 | OMIM:129500 | Clouston syndrome | | | | 56 | | |
HP:0000962 | HP:0031288 | Cobblestone-like hyperkeratosis | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | | | | 56 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | | | | 56 | | |
HP:0000962 | HP:0045059 | Hyperkeratotic papule | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | | | | 56 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:189 | Hidrotic ectodermal dysplasia | | | | 56 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0000962 | HP:0007502 | Follicular hyperkeratosis | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | | | | 24 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | HAND2 CL E G H | 9464 | 4808 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 2 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | HAND2 CL E G H | 9464 | 4808 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 2 | | |
HP:0000962 | HP:0007468 | Perifollicular hyperkeratosis | 1 | HLA-DRA CL E G H | 3122 | 4947 | ORPHA:505 | Graham Little-Piccardi-Lassueur syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | HPGD CL E G H | 3248 | 5154 | OMIM:259100 | Hypertrophic osteoarthropathy, primary, autosomal recessive 1 | | | | 55 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | HPGD CL E G H | 3248 | 5154 | OMIM:259100 | Hypertrophic osteoarthropathy, primary, autosomal recessive 1 | | | | 55 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | | | | 55 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | | | | 55 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 124 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:79402 | Intermediate generalized junctional epidermolysis bullosa | | | | 124 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | JUP CL E G H | 3728 | 6207 | ORPHA:34217 | Naxos disease | | | | 222 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | | | | 222 | | |
HP:0000962 | HP:0008392 | Subungual hyperkeratosis | 1 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | | | | 222 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | JUP CL E G H | 3728 | 6207 | ORPHA:34217 | Naxos disease | | | | 222 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | JUP CL E G H | 3728 | 6207 | OMIM:601214 | Naxos disease | | | | 222 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KANK2 CL E G H | 25959 | 29300 | OMIM:616099 | Palmoplantar keratoderma and woolly hair | | | | 1 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KANK2 CL E G H | 25959 | 29300 | OMIM:616099 | Palmoplantar keratoderma and woolly hair | | | | 1 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KDSR CL E G H | 2531 | 4021 | ORPHA:317 | Erythrokeratodermia variabilis | | | | 4 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KDSR CL E G H | 2531 | 4021 | ORPHA:317 | Erythrokeratodermia variabilis | | | | 4 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KDSR CL E G H | 2531 | 4021 | OMIM:617526 | Erythrokeratodermia variabilis et progressiva 4 | | | | 4 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KDSR CL E G H | 2531 | 4021 | OMIM:617526 | Erythrokeratodermia variabilis et progressiva 4 | | | | 4 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KDSR CL E G H | 2531 | 4021 | ORPHA:316 | Progressive symmetric erythrokeratodermia | | | | 4 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KDSR CL E G H | 2531 | 4021 | ORPHA:316 | Progressive symmetric erythrokeratodermia | | | | 4 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | | | | 5 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KLHL24 CL E G H | 54800 | 25947 | OMIM:617294 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss | | | | 5 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0000962 | HP:0005595 | Generalized hyperkeratosis | 1 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KLLN CL E G H | 100144748 | 37212 | ORPHA:201 | Cowden syndrome | | | | 1 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | | | | 100 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | | | | 100 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | OMIM:113800 | Epidermolytic hyperkeratosis | | | | 100 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | OMIM:113800 | Epidermolytic hyperkeratosis | | | | 100 | | |
HP:0000962 | HP:0007543 | Epidermal hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 100 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 100 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:2199 | Epidermolytic palmoplantar keratoderma | | | | 100 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:79503 | Ichthyosis hystrix of Curth-Macklin | | | | 100 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:79503 | Ichthyosis hystrix of Curth-Macklin | | | | 100 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | OMIM:607654 | KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3 | | | | 100 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | OMIM:607654 | KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3 | | | | 100 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:530838 | KRT1-related diffuse nonepidermolytic keratoderma | | | | 100 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:530838 | KRT1-related diffuse nonepidermolytic keratoderma | | | | 100 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | OMIM:144200 | Palmoplantar keratoderma, epidermolytic | . | | | 100 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | OMIM:144200 | Palmoplantar keratoderma, epidermolytic | . | | | 100 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | OMIM:600962 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK | | | | 100 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | OMIM:600962 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK | | | | 100 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:50942 | Striate palmoplantar keratoderma | | | | 100 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:50942 | Striate palmoplantar keratoderma | | | | 100 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KRT10 CL E G H | 3858 | 6413 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | | | | 45 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KRT10 CL E G H | 3858 | 6413 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | | | | 45 | | |
HP:0000962 | HP:0010765 | Palmar hyperkeratosis | 1 | KRT10 CL E G H | 3858 | 6413 | OMIM:113800 | Epidermolytic hyperkeratosis | | | | 45 | | |
HP:0000962 | HP:0007556 | Plantar hyperkeratosis | 1 | KRT10 CL E G H | 3858 | 6413 | OMIM:113800 | Epidermolytic hyperkeratosis | | | | 45 | | |
|