Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin morphology (HP:0011121)help
Parent Node:
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Abnormal foot morphology (HP:0001760)help
Parent Node:
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Regional abnormality of skin (HP:0011356)help
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Abnormality of the plantar skin of foot (HP:0100872)help
Term ID: 100872
Name: Abnormality of the plantar skin of foot
Synonym: Minor feet anomalies
Definition: An abnormality of the plantar part of foot, that is of the soles of the feet.
Comments:
Reference: HP:0100872
Genes and Diseases:
 
       Child Nodes:
........expandDeep plantar creases (HP:0001869) help
................... HP:0004681 Deep longitudinal plantar crease
................... HP:0008107 Plantar crease between first and second toes
........expandHypertrophy of skin of soles (HP:0007403) help
........expandPalmoplantar hyperhidrosis (HP:0007410) help
........expandPalmoplantar blistering (HP:0007446) help
........expandPalmoplantar cutis gyrata (HP:0007469) help
........expandPalmoplantar cutis laxa (HP:0007517) help
........expandPlantar hyperkeratosis (HP:0007556) help
................... HP:0000972 Palmoplantar hyperkeratosis
........expandMultiple plantar creases (HP:0008113) help
........expandAbnormal plantar dermatoglyphics (HP:0010506) help
........expandPlantar pits (HP:0010612) help
........expandConvex contour of sole (HP:0011303) help
........expandPlantar edema (HP:0025537) help
........expandPlantar telangiectasia (HP:0100870) help

 Sister Nodes: 
..expandAbnormal dermatoglyphics (HP:0007477) help
..expandAbnormal skin morphology of the palm (HP:0040211) help
..expandAbnormality of the periungual region (HP:0100803) help
..expandCutis gyrata of scalp (HP:0010541) help
..expandPalmoplantar pustulosis (HP:0100847) help
..expandPretibial blistering (HP:0012221) help
..expandPretibial myxedema (HP:0200028) help
..expandProminent digit pad (HP:0011298) help
..expandPterygium (HP:0001059) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100872HP:0100872Abnormality of the plantar skin of foot0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0100872HP:0100872Abnormality of the plantar skin of foot0AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0100872HP:0100872Abnormality of the plantar skin of foot0AAGAB CL E G H7971925662OMIM:148600Palmoplantar keratoderma, punctate type IA7
HP:0100872HP:0100872Abnormality of the plantar skin of foot0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythroderma130
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A130
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathy254
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type254
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathy208
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathy307
HP:0100872HP:0100872Abnormality of the plantar skin of foot0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0100872HP:0100872Abnormality of the plantar skin of foot0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0100872HP:0100872Abnormality of the plantar skin of foot0AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0100872HP:0100872Abnormality of the plantar skin of foot0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic54
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythroderma75
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythroderma63
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 363
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 12
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathy95
HP:0100872HP:0100872Abnormality of the plantar skin of foot0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0100872HP:0100872Abnormality of the plantar skin of foot0AQP5 CL E G H362638ORPHA:2337Non-epidermolytic palmoplantar keratoderma5
HP:0100872HP:0100872Abnormality of the plantar skin of foot0AQP5 CL E G H362638OMIM:600231PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB5
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ATP2A2 CL E G H488812OMIM:101900Acrokeratosis verruciformis86
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of Hopf86
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ATP2A2 CL E G H488812ORPHA:218Darier disease86
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ATP2A2 CL E G H488812OMIM:124200Darier-White disease86
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndrome140
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome140
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0100872HP:0100872Abnormality of the plantar skin of foot0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome29
HP:0100872HP:0100872Abnormality of the plantar skin of foot0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0100872HP:0100872Abnormality of the plantar skin of foot0BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathy204
HP:0100872HP:0100872Abnormality of the plantar skin of foot0BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathy
HP:0100872HP:0100872Abnormality of the plantar skin of foot0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0100872HP:0100872Abnormality of the plantar skin of foot0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0100872HP:0100872Abnormality of the plantar skin of foot0C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 115
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathy
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris33
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilaris33
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads4
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CD28 CL E G H9401653ORPHA:3162Sézary syndrome
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CD4 CL E G H9201678OMIM:619238IMMUNODEFICIENCY 79; IMD791
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CDSN CL E G H10411802OMIM:270300Peeling skin syndrome 17
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythroderma5
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0100872HP:0100872Abnormality of the plantar skin of foot0COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome71
HP:0100872HP:0100872Abnormality of the plantar skin of foot0COG6 CL E G H5751118621OMIM:615328Shaheen syndrome71
HP:0100872HP:0100872Abnormality of the plantar skin of foot0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0100872HP:0100872Abnormality of the plantar skin of foot0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0100872HP:0100872Abnormality of the plantar skin of foot0COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral form263
HP:0100872HP:0100872Abnormality of the plantar skin of foot0COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial form263
HP:0100872HP:0100872Abnormality of the plantar skin of foot0COL7A1 CL E G H12942214ORPHA:79409Recessive dystrophic epidermolysis bullosa inversa263
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathy46
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathy104
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CSTA CL E G H14752481OMIM:607936Peeling skin syndrome 44
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CTLA4 CL E G H14932505ORPHA:3162Sézary syndrome10
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CTSB CL E G H15082527OMIM:148370Keratolytic winter erythema1
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome50
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome50
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0100872HP:0100872Abnormality of the plantar skin of foot0CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 554
HP:0100872HP:0100872Abnormality of the plantar skin of foot0DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathy263
HP:0100872HP:0100872Abnormality of the plantar skin of foot0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0100872HP:0100872Abnormality of the plantar skin of foot0DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathy1496
HP:0100872HP:0100872Abnormality of the plantar skin of foot0DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathy55
HP:0100872HP:0100872Abnormality of the plantar skin of foot0DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11268
HP:0100872HP:0100872Abnormality of the plantar skin of foot0DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige16
HP:0100872HP:0100872Abnormality of the plantar skin of foot0DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0100872HP:0100872Abnormality of the plantar skin of foot0DSG1 CL E G H18283048ORPHA:50942Striate palmoplantar keratoderma16
HP:0100872HP:0100872Abnormality of the plantar skin of foot0DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathy358
HP:0100872HP:0100872Abnormality of the plantar skin of foot0DSP CL E G H18323052OMIM:605676Cardiomyopathy, dilated, with woolly hair and keratoderma747
HP:0100872HP:0100872Abnormality of the plantar skin of foot0DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis747
HP:0100872HP:0100872Abnormality of the plantar skin of foot0DSP CL E G H18323052ORPHA:65282Carvajal syndrome747
HP:0100872HP:0100872Abnormality of the plantar skin of foot0DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathy747
HP:0100872HP:0100872Abnormality of the plantar skin of foot0DSP CL E G H18323052OMIM:612908Keratosis palmoplantaris striata II747
HP:0100872HP:0100872Abnormality of the plantar skin of foot0DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome747
HP:0100872HP:0100872Abnormality of the plantar skin of foot0DSP CL E G H18323052ORPHA:50942Striate palmoplantar keratoderma747
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ENPP1 CL E G H51673356OMIM:615522Cole disease151
HP:0100872HP:0100872Abnormality of the plantar skin of foot0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0100872HP:0100872Abnormality of the plantar skin of foot0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosa136
HP:0100872HP:0100872Abnormality of the plantar skin of foot0FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0100872HP:0100872Abnormality of the plantar skin of foot0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0100872HP:0100872Abnormality of the plantar skin of foot0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0100872HP:0100872Abnormality of the plantar skin of foot0FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathy36
HP:0100872HP:0100872Abnormality of the plantar skin of foot0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0100872HP:0100872Abnormality of the plantar skin of foot0FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathy184
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathy35
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilis68
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJA1 CL E G H26974274OMIM:617525Erythrokeratodermia variabilis et progressiva 368
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilans199
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJB2 CL E G H27064284OMIM:148350Keratoderma, palmoplantar, with deafness199
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJB2 CL E G H27064284OMIM:149200Knuckle pads, leukonychia, and sensorineural deafness199
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome199
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJB2 CL E G H27064284ORPHA:2202Palmoplantar keratoderma-deafness syndrome199
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJB2 CL E G H27064284OMIM:124500VOHWINKEL SYNDROME; VOWNKL199
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilis74
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 174
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilis12
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJB4 CL E G H1275344286OMIM:617524Erythrokeratodermia variabilis et progressiva 212
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GMPPA CL E G H2992622923ORPHA:869Triple A syndrome24
HP:0100872HP:0100872Abnormality of the plantar skin of foot0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0100872HP:0100872Abnormality of the plantar skin of foot0HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathy2
HP:0100872HP:0100872Abnormality of the plantar skin of foot0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome8
HP:0100872HP:0100872Abnormality of the plantar skin of foot0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 155
HP:0100872HP:0100872Abnormality of the plantar skin of foot0HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0100872HP:0100872Abnormality of the plantar skin of foot0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0100872HP:0100872Abnormality of the plantar skin of foot0IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0100872HP:0100872Abnormality of the plantar skin of foot0JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0100872HP:0100872Abnormality of the plantar skin of foot0JUP CL E G H37286207ORPHA:34217Naxos disease222
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair1
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndrome13
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type23
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndrome7
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilis4
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KDSR CL E G H25314021OMIM:617526Erythrokeratodermia variabilis et progressiva 44
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KDSR CL E G H25314021ORPHA:316Progressive symmetric erythrokeratodermia4
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosis100
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT1 CL E G H38486412OMIM:113800Epidermolytic hyperkeratosis100
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT1 CL E G H38486412ORPHA:79503Ichthyosis hystrix of Curth-Macklin100
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT1 CL E G H38486412OMIM:607654KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3100
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratoderma100
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT1 CL E G H38486412OMIM:144200Palmoplantar keratoderma, epidermolytic100
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT1 CL E G H38486412OMIM:600962PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK100
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT1 CL E G H38486412ORPHA:50942Striate palmoplantar keratoderma100
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosis45
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT10 CL E G H38586413OMIM:113800Epidermolytic hyperkeratosis45
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular45
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT10 CL E G H38586413OMIM:607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis45
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form110
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplex110
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis110
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation110
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type110
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT14 CL E G H38616416OMIM:131900Epidermolysis bullosa simplex, Koebner type110
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT14 CL E G H38616416OMIM:131800Epidermolysis bullosa simplex, Weber-Cockayne type110
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplex110
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT14 CL E G H38616416OMIM:161000Naegeli syndrome110
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT16 CL E G H38686423ORPHA:2199Epidermolytic palmoplantar keratoderma27
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenita27
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT16 CL E G H38686423OMIM:167200Pachyonychia congenita, type 127
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT16 CL E G H38686423OMIM:613000Palmoplantar keratoderma, nonepidermolytic, focal 127
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenita23
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 223
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT2 CL E G H38496439ORPHA:455Superficial epidermolytic ichthyosis67
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form173
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT5 CL E G H38526442OMIM:619555EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A173
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT5 CL E G H38526442OMIM:619588EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE; EBS2B173
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT5 CL E G H38526442OMIM:619594EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C173
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation173
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type173
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplex173
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenita41
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 341
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenita4
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT6B CL E G H38546444OMIM:615728Pachyonychia congenita 44
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT6C CL E G H28688720406OMIM:615735Palmoplantar keratoderma, nonepidermolytic, focal or diffuse4
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT83 CL E G H38896460OMIM:617756Erythrokeratodermia variabilis et progressiva 565
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT83 CL E G H38896460ORPHA:316Progressive symmetric erythrokeratodermia65
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT9 CL E G H38576447ORPHA:2199Epidermolytic palmoplantar keratoderma66
HP:0100872HP:0100872Abnormality of the plantar skin of foot0KRT9 CL E G H38576447OMIM:144200Palmoplantar keratoderma, epidermolytic66
HP:0100872HP:0100872Abnormality of the plantar skin of foot0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:0100872HP:0100872Abnormality of the plantar skin of foot0LAMA4 CL E G H39106484ORPHA:154Familial isolated dilated cardiomyopathy279
HP:0100872HP:0100872Abnormality of the plantar skin of foot0LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type167
HP:0100872HP:0100872Abnormality of the plantar skin of foot0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:0100872HP:0100872Abnormality of the plantar skin of foot0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:0100872HP:0100872Abnormality of the plantar skin of foot0LDB3 CL E G H1115515710ORPHA:154Familial isolated dilated cardiomyopathy286
HP:0100872HP:0100872Abnormality of the plantar skin of foot0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0100872HP:0100872Abnormality of the plantar skin of foot0LMNA CL E G H40006636ORPHA:154Familial isolated dilated cardiomyopathy645
HP:0100872HP:0100872Abnormality of the plantar skin of foot0LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosis
HP:0100872HP:0100872Abnormality of the plantar skin of foot0LORICRIN CL E G H40146663ORPHA:316Progressive symmetric erythrokeratodermia
HP:0100872HP:0100872Abnormality of the plantar skin of foot0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0100872HP:0100872Abnormality of the plantar skin of foot0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0100872HP:0100872Abnormality of the plantar skin of foot0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0100872HP:0100872Abnormality of the plantar skin of foot0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0100872HP:0100872Abnormality of the plantar skin of foot0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0100872HP:0100872Abnormality of the plantar skin of foot0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0100872HP:0100872Abnormality of the plantar skin of foot0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques22
HP:0100872HP:0100872Abnormality of the plantar skin of foot0MBTPS2 CL E G H5136015455OMIM:300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked22
HP:0100872HP:0100872Abnormality of the plantar skin of foot0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IV78
HP:0100872HP:0100872Abnormality of the plantar skin of foot0MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0100872HP:0100872Abnormality of the plantar skin of foot0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome68
HP:0100872HP:0100872Abnormality of the plantar skin of foot0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0100872HP:0100872Abnormality of the plantar skin of foot0MYBPC3 CL E G H46077551ORPHA:154Familial isolated dilated cardiomyopathy1143
HP:0100872HP:0100872Abnormality of the plantar skin of foot0MYH6 CL E G H46247576ORPHA:154Familial isolated dilated cardiomyopathy452
HP:0100872HP:0100872Abnormality of the plantar skin of foot0MYH7 CL E G H46257577ORPHA:154Familial isolated dilated cardiomyopathy1269
HP:0100872HP:0100872Abnormality of the plantar skin of foot0MYPN CL E G H8466523246ORPHA:154Familial isolated dilated cardiomyopathy217
HP:0100872HP:0100872Abnormality of the plantar skin of foot0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0100872HP:0100872Abnormality of the plantar skin of foot0NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0100872HP:0100872Abnormality of the plantar skin of foot0NEXN CL E G H9162429557ORPHA:154Familial isolated dilated cardiomyopathy167
HP:0100872HP:0100872Abnormality of the plantar skin of foot0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0100872HP:0100872Abnormality of the plantar skin of foot0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 127
HP:0100872HP:0100872Abnormality of the plantar skin of foot0NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythroderma60
HP:0100872HP:0100872Abnormality of the plantar skin of foot0NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 660
HP:0100872HP:0100872Abnormality of the plantar skin of foot0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0100872HP:0100872Abnormality of the plantar skin of foot0NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healing37
HP:0100872HP:0100872Abnormality of the plantar skin of foot0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0100872HP:0100872Abnormality of the plantar skin of foot0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 117
HP:0100872HP:0100872Abnormality of the plantar skin of foot0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PEPD CL E G H51848840ORPHA:742Prolidase deficiency66
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PERP CL E G H6406517637OMIM:619209ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PERP CL E G H6406517637OMIM:619208OLMSTED SYNDROME 2; OLMS2
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 137
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndrome107
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy759
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PLEC CL E G H53399069OMIM:616487Epidermolysis bullosa simplex with nail dystrophy759
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PLEC CL E G H53399069ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement759
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PLN CL E G H53509080ORPHA:154Familial isolated dilated cardiomyopathy57
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythroderma47
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 1047
HP:0100872HP:0100872Abnormality of the plantar skin of foot0POMP CL E G H5137120330OMIM:601952Keratosis linearis with ichthyosis congenita and sclerosing keratoderma2
HP:0100872HP:0100872Abnormality of the plantar skin of foot0POMP CL E G H5137120330ORPHA:281201Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome2
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PPCS CL E G H7971725686ORPHA:154Familial isolated dilated cardiomyopathy
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PRDM16 CL E G H6397614000ORPHA:154Familial isolated dilated cardiomyopathy148
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PSEN1 CL E G H56639508ORPHA:154Familial isolated dilated cardiomyopathy241
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PSEN2 CL E G H56649509ORPHA:154Familial isolated dilated cardiomyopathy59
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PTCH1 CL E G H57279585ORPHA:377Gorlin syndrome665
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3665
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PTCH2 CL E G H86439586ORPHA:377Gorlin syndrome40
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0100872HP:0100872Abnormality of the plantar skin of foot0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0100872HP:0100872Abnormality of the plantar skin of foot0RAF1 CL E G H58949829ORPHA:154Familial isolated dilated cardiomyopathy212
HP:0100872HP:0100872Abnormality of the plantar skin of foot0RBM20 CL E G H28299627424ORPHA:154Familial isolated dilated cardiomyopathy363
HP:0100872HP:0100872Abnormality of the plantar skin of foot0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2445
HP:0100872HP:0100872Abnormality of the plantar skin of foot0RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndrome80
HP:0100872HP:0100872Abnormality of the plantar skin of foot0RHBDF2 CL E G H7965120788OMIM:148500Tylosis with esophageal cancer80
HP:0100872HP:0100872Abnormality of the plantar skin of foot0RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0100872HP:0100872Abnormality of the plantar skin of foot0RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0100872HP:0100872Abnormality of the plantar skin of foot0RSPO1 CL E G H28465421679ORPHA:85112Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome3
HP:0100872HP:0100872Abnormality of the plantar skin of foot0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SASH1 CL E G H2332819182OMIM:618373Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma1
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SCN5A CL E G H633110593ORPHA:154Familial isolated dilated cardiomyopathy1134
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SDHA CL E G H638910680ORPHA:154Familial isolated dilated cardiomyopathy304
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SDR9C7 CL E G H12121429958OMIM:617574Ichthyosis, congenital, autosomal recessive 132
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SERPINA12 CL E G H14526418359ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SERPINB7 CL E G H871013902OMIM:615598Palmoplantar keratoderma, Nagashima type4
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SERPINB7 CL E G H871013902ORPHA:140966Palmoplantar keratoderma, Nagashima type4
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SGCD CL E G H644410807ORPHA:154Familial isolated dilated cardiomyopathy223
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SLCO2A1 CL E G H657810955ORPHA:2796Pachydermoperiostosis13
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SLURP1 CL E G H5715218746ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen type15
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SLURP1 CL E G H5715218746ORPHA:87503Mal de Meleda15
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SLURP1 CL E G H5715218746OMIM:248300Meleda disease15
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SMARCAD1 CL E G H5691618398OMIM:181600Huriez syndrome6
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SMARCAD1 CL E G H5691618398ORPHA:384Huriez syndrome6
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndrome94
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SOX18 CL E G H5434511194ORPHA:69735Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome7
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDG80
HP:0100872HP:0100872Abnormality of the plantar skin of foot0STS CL E G H41211425OMIM:308100Ichthyosis, X-linked19
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0100872HP:0100872Abnormality of the plantar skin of foot0SUFU CL E G H5168416466ORPHA:377Gorlin syndrome124
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TAF1A CL E G H901511532ORPHA:154Familial isolated dilated cardiomyopathy
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TAFAZZIN CL E G H690111577ORPHA:154Familial isolated dilated cardiomyopathy
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TAT CL E G H689811573ORPHA:28378Tyrosinemia type 243
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040282 - Frequent22
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TCAP CL E G H855711610ORPHA:154Familial isolated dilated cardiomyopathy78
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2238
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosis98
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythroderma98
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 198
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TMPO CL E G H711211875ORPHA:154Familial isolated dilated cardiomyopathy136
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndrome
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TNNC1 CL E G H713411943ORPHA:154Familial isolated dilated cardiomyopathy73
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TNNI3 CL E G H713711947ORPHA:154Familial isolated dilated cardiomyopathy180
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TNNT2 CL E G H713911949ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TPM1 CL E G H716812010ORPHA:154Familial isolated dilated cardiomyopathy230
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndrome27
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TRNS1 CL E G H45747497ORPHA:2202Palmoplantar keratoderma-deafness syndrome
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TRPM4 CL E G H5479517993ORPHA:316Progressive symmetric erythrokeratodermia124
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques151
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques151
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TRPV3 CL E G H16251418084OMIM:616400Palmoplantar keratoderma, nonepidermolytic, focal 2151
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TTN CL E G H727312403ORPHA:154Familial isolated dilated cardiomyopathy7128
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TXNRD2 CL E G H1058718155ORPHA:154Familial isolated dilated cardiomyopathy85
HP:0100872HP:0100872Abnormality of the plantar skin of foot0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0100872HP:0100872Abnormality of the plantar skin of foot0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0100872HP:0100872Abnormality of the plantar skin of foot0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0100872HP:0100872Abnormality of the plantar skin of foot0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0100872HP:0100872Abnormality of the plantar skin of foot0VCL CL E G H741412665ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0100872HP:0100872Abnormality of the plantar skin of foot0VPS33B CL E G H2627612712OMIM:62000963
HP:0100872HP:0100872Abnormality of the plantar skin of foot0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0100872HP:0100872Abnormality of the plantar skin of foot0WNT10A CL E G H8032613829ORPHA:50944Schöpf-Schulz-Passarge syndrome71
HP:0100872HP:0100872Abnormality of the plantar skin of foot0WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome71
HP:0100872HP:0100872Abnormality of the plantar skin of foot0WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0100872HP:0100872Abnormality of the plantar skin of foot0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0100872HP:0100872Abnormality of the plantar skin of foot0ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome397
HP:0100872HP:0025537Plantar edema1 CL E G H
HP:0100872HP:0011303Convex contour of sole1 CL E G H
HP:0100872HP:0010506Abnormal plantar dermatoglyphics1 CL E G H
HP:0100872HP:0007556Plantar hyperkeratosis1AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0100872HP:0007556Plantar hyperkeratosis1AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040283 - Occasional57
HP:0100872HP:0007556Plantar hyperkeratosis1AAGAB CL E G H7971925662OMIM:148600Palmoplantar keratoderma, punctate type IA7
HP:0100872HP:0007556Plantar hyperkeratosis1AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0100872HP:0007556Plantar hyperkeratosis1ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythroderma130
HP:0100872HP:0007556Plantar hyperkeratosis1ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A130
HP:0100872HP:0007556Plantar hyperkeratosis1ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathy254
HP:0100872HP:0001869Deep plantar creases1ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent254
HP:0100872HP:0007556Plantar hyperkeratosis1ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathy208
HP:0100872HP:0007556Plantar hyperkeratosis1ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathy307
HP:0100872HP:0001869Deep plantar creases1AIP CL E G H9049358ORPHA:963AcromegalyHP:0040281 - Very frequent95
HP:0100872HP:0007556Plantar hyperkeratosis1AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0100872HP:0007556Plantar hyperkeratosis1AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0100872HP:0007403Hypertrophy of skin of soles1AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0100872HP:0007556Plantar hyperkeratosis1ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythroderma75
HP:0100872HP:0007556Plantar hyperkeratosis1ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0100872HP:0007556Plantar hyperkeratosis1ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythroderma63
HP:0100872HP:0007556Plantar hyperkeratosis1ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0100872HP:0007556Plantar hyperkeratosis1ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 363
HP:0100872HP:0007556Plantar hyperkeratosis1ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:0100872HP:0007556Plantar hyperkeratosis1ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathy95
HP:0100872HP:0007556Plantar hyperkeratosis1AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0100872HP:0007556Plantar hyperkeratosis1AQP5 CL E G H362638ORPHA:2337Non-epidermolytic palmoplantar keratoderma5
HP:0100872HP:0007556Plantar hyperkeratosis1AQP5 CL E G H362638OMIM:600231PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB5
HP:0100872HP:0001869Deep plantar creases1ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0100872HP:0007556Plantar hyperkeratosis1ATP2A2 CL E G H488812OMIM:101900Acrokeratosis verruciformis86
HP:0100872HP:0007556Plantar hyperkeratosis1ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of Hopf86
HP:0100872HP:0010612Plantar pits1ATP2A2 CL E G H488812ORPHA:218Darier diseaseHP:0040282 - Frequent86
HP:0100872HP:0007556Plantar hyperkeratosis1ATP2A2 CL E G H488812ORPHA:218Darier disease86
HP:0100872HP:0010612Plantar pits1ATP2A2 CL E G H488812OMIM:124200Darier-White disease.86
HP:0100872HP:0001869Deep plantar creases1ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0100872HP:0007517Palmoplantar cutis laxa1ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0100872HP:0001869Deep plantar creases1ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0100872HP:0008113Multiple plantar creases1ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0100872HP:0001869Deep plantar creases1ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040284 - Very rare5
HP:0100872HP:0007469Palmoplantar cutis gyrata1B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent29
HP:0100872HP:0007469Palmoplantar cutis gyrata1B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1.29
HP:0100872HP:0007556Plantar hyperkeratosis1BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathy204
HP:0100872HP:0007556Plantar hyperkeratosis1BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathy
HP:0100872HP:0007556Plantar hyperkeratosis1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0100872HP:0008113Multiple plantar creases1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0100872HP:0007517Palmoplantar cutis laxa1C1R CL E G H7151246OMIM:130080Ehlers-Danlos syndrome, periodontal type, 1.15
HP:0100872HP:0007556Plantar hyperkeratosis1CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathy
HP:0100872HP:0007556Plantar hyperkeratosis1CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilaris33
HP:0100872HP:0007556Plantar hyperkeratosis1CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris33
HP:0100872HP:0007556Plantar hyperkeratosis1CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads4
HP:0100872HP:0007556Plantar hyperkeratosis1CD28 CL E G H9401653ORPHA:3162Sézary syndrome
HP:0100872HP:0033005Plantar warts1CD4 CL E G H9201678OMIM:619238IMMUNODEFICIENCY 79; IMD791
HP:0100872HP:0007410Palmoplantar hyperhidrosis1CDSN CL E G H10411802OMIM:270300Peeling skin syndrome 17
HP:0100872HP:0007556Plantar hyperkeratosis1CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythroderma5
HP:0100872HP:0007410Palmoplantar hyperhidrosis1CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratodermaHP:0040282 - Frequent1371
HP:0100872HP:0007556Plantar hyperkeratosis1CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0100872HP:0007556Plantar hyperkeratosis1COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome71
HP:0100872HP:0007556Plantar hyperkeratosis1COG6 CL E G H5751118621OMIM:615328Shaheen syndrome71
HP:0100872HP:0007556Plantar hyperkeratosis1COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0100872HP:0007556Plantar hyperkeratosis1COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0100872HP:0007556Plantar hyperkeratosis1COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral form263
HP:0100872HP:0007446Palmoplantar blistering1COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial formHP:0040282 - Frequent263
HP:0100872HP:0007446Palmoplantar blistering1COL7A1 CL E G H12942214ORPHA:79409Recessive dystrophic epidermolysis bullosa inversaHP:0040283 - Occasional263
HP:0100872HP:0001869Deep plantar creases1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0100872HP:0007556Plantar hyperkeratosis1CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathy46
HP:0100872HP:0007556Plantar hyperkeratosis1CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathy104
HP:0100872HP:0007556Plantar hyperkeratosis1CSTA CL E G H14752481OMIM:607936Peeling skin syndrome 44
HP:0100872HP:0007556Plantar hyperkeratosis1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0100872HP:0007556Plantar hyperkeratosis1CTLA4 CL E G H14932505ORPHA:3162Sézary syndrome10
HP:0100872HP:0007410Palmoplantar hyperhidrosis1CTSB CL E G H15082527OMIM:148370Keratolytic winter erythema.1
HP:0100872HP:0007556Plantar hyperkeratosis1CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome50
HP:0100872HP:0007556Plantar hyperkeratosis1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0100872HP:0007556Plantar hyperkeratosis1CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome50
HP:0100872HP:0007556Plantar hyperkeratosis1CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 554
HP:0100872HP:0007556Plantar hyperkeratosis1DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathy263
HP:0100872HP:0007556Plantar hyperkeratosis1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0100872HP:0007556Plantar hyperkeratosis1DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathy1496
HP:0100872HP:0007556Plantar hyperkeratosis1DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathy55
HP:0100872HP:0007556Plantar hyperkeratosis1DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11268
HP:0100872HP:0007556Plantar hyperkeratosis1DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige16
HP:0100872HP:0007446Palmoplantar blistering1DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0100872HP:0007556Plantar hyperkeratosis1DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0100872HP:0007556Plantar hyperkeratosis1DSG1 CL E G H18283048ORPHA:50942Striate palmoplantar keratoderma16
HP:0100872HP:0007556Plantar hyperkeratosis1DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathy358
HP:0100872HP:0007556Plantar hyperkeratosis1DSP CL E G H18323052OMIM:605676Cardiomyopathy, dilated, with woolly hair and keratoderma747
HP:0100872HP:0007556Plantar hyperkeratosis1DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis747
HP:0100872HP:0007556Plantar hyperkeratosis1DSP CL E G H18323052ORPHA:65282Carvajal syndrome747
HP:0100872HP:0007556Plantar hyperkeratosis1DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathy747
HP:0100872HP:0007556Plantar hyperkeratosis1DSP CL E G H18323052OMIM:612908Keratosis palmoplantaris striata II747
HP:0100872HP:0007556Plantar hyperkeratosis1DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome747
HP:0100872HP:0007556Plantar hyperkeratosis1DSP CL E G H18323052ORPHA:50942Striate palmoplantar keratoderma747
HP:0100872HP:0007556Plantar hyperkeratosis1ENPP1 CL E G H51673356OMIM:615522Cole disease151
HP:0100872HP:0001869Deep plantar creases1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0100872HP:0001869Deep plantar creases1ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0100872HP:0007556Plantar hyperkeratosis1FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosa136
HP:0100872HP:0007556Plantar hyperkeratosis1FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0100872HP:0007517Palmoplantar cutis laxa1FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome.175
HP:0100872HP:0007469Palmoplantar cutis gyrata1FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040281 - Very frequent175
HP:0100872HP:0007556Plantar hyperkeratosis1FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0100872HP:0007556Plantar hyperkeratosis1FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathy36
HP:0100872HP:0007556Plantar hyperkeratosis1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0100872HP:0007556Plantar hyperkeratosis1FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathy184
HP:0100872HP:0007556Plantar hyperkeratosis1GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathy35
HP:0100872HP:0007556Plantar hyperkeratosis1GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0100872HP:0007556Plantar hyperkeratosis1GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilis68
HP:0100872HP:0007556Plantar hyperkeratosis1GJA1 CL E G H26974274OMIM:617525Erythrokeratodermia variabilis et progressiva 368
HP:0100872HP:0007556Plantar hyperkeratosis1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0100872HP:0007556Plantar hyperkeratosis1GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0100872HP:0007556Plantar hyperkeratosis1GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0100872HP:0007556Plantar hyperkeratosis1GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilans199
HP:0100872HP:0007556Plantar hyperkeratosis1GJB2 CL E G H27064284OMIM:148350Keratoderma, palmoplantar, with deafness199
HP:0100872HP:0007556Plantar hyperkeratosis1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0100872HP:0007556Plantar hyperkeratosis1GJB2 CL E G H27064284OMIM:149200Knuckle pads, leukonychia, and sensorineural deafness199
HP:0100872HP:0007556Plantar hyperkeratosis1GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome199
HP:0100872HP:0007556Plantar hyperkeratosis1GJB2 CL E G H27064284ORPHA:2202Palmoplantar keratoderma-deafness syndrome199
HP:0100872HP:0007556Plantar hyperkeratosis1GJB2 CL E G H27064284OMIM:124500VOHWINKEL SYNDROME; VOWNKL199
HP:0100872HP:0007556Plantar hyperkeratosis1GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilis74
HP:0100872HP:0007556Plantar hyperkeratosis1GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 174
HP:0100872HP:0007556Plantar hyperkeratosis1GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilis12
HP:0100872HP:0007556Plantar hyperkeratosis1GJB4 CL E G H1275344286OMIM:617524Erythrokeratodermia variabilis et progressiva 212
HP:0100872HP:0007556Plantar hyperkeratosis1GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0100872HP:0007556Plantar hyperkeratosis1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0100872HP:0007556Plantar hyperkeratosis1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0100872HP:0007556Plantar hyperkeratosis1GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040283 - Occasional24
HP:0100872HP:0001869Deep plantar creases1GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040281 - Very frequent5
HP:0100872HP:0007556Plantar hyperkeratosis1HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathy2
HP:0100872HP:0001869Deep plantar creases1HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0100872HP:0007556Plantar hyperkeratosis1HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 155
HP:0100872HP:0007556Plantar hyperkeratosis1HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0100872HP:0001869Deep plantar creases1HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0100872HP:0007556Plantar hyperkeratosis1ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0100872HP:0033005Plantar warts1IVNS1ABP CL E G H1062516951OMIM:618969IMMUNODEFICIENCY 70; IMD70
HP:0100872HP:0007556Plantar hyperkeratosis1JUP CL E G H37286207ORPHA:34217Naxos disease222
HP:0100872HP:0007556Plantar hyperkeratosis1JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0100872HP:0007556Plantar hyperkeratosis1KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair1
HP:0100872HP:0001869Deep plantar creases1KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040284 - Very rare13
HP:0100872HP:0001869Deep plantar creases1KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent23
HP:0100872HP:0001869Deep plantar creases1KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040284 - Very rare7
HP:0100872HP:0007556Plantar hyperkeratosis1KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilis4
HP:0100872HP:0007556Plantar hyperkeratosis1KDSR CL E G H25314021OMIM:617526Erythrokeratodermia variabilis et progressiva 44
HP:0100872HP:0007556Plantar hyperkeratosis1KDSR CL E G H25314021ORPHA:316Progressive symmetric erythrokeratodermia4
HP:0100872HP:0007556Plantar hyperkeratosis1KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0100872HP:0007556Plantar hyperkeratosis1KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0100872HP:0007556Plantar hyperkeratosis1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0100872HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosis100
HP:0100872HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412OMIM:113800Epidermolytic hyperkeratosis100
HP:0100872HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0100872HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:79503Ichthyosis hystrix of Curth-Macklin100
HP:0100872HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412OMIM:607654KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3100
HP:0100872HP:0007446Palmoplantar blistering1KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratodermaHP:0040283 - Occasional100
HP:0100872HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratoderma100
HP:0100872HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412OMIM:144200Palmoplantar keratoderma, epidermolytic.100
HP:0100872HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412OMIM:600962PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK100
HP:0100872HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:50942Striate palmoplantar keratoderma100
HP:0100872HP:0007556Plantar hyperkeratosis1KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosis45
HP:0100872HP:0007556Plantar hyperkeratosis1KRT10 CL E G H38586413OMIM:113800Epidermolytic hyperkeratosis45
HP:0100872HP:0007556Plantar hyperkeratosis1KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular45
HP:0100872HP:0007556Plantar hyperkeratosis1KRT10 CL E G H38586413OMIM:607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis45
HP:0100872HP:0007556Plantar hyperkeratosis1KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040282 - Frequent110
HP:0100872HP:0007556Plantar hyperkeratosis1KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0100872HP:0007556Plantar hyperkeratosis1KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplex110
HP:0100872HP:0007446Palmoplantar blistering1KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040282 - Frequent110
HP:0100872HP:0007556Plantar hyperkeratosis1KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis110
HP:0100872HP:0007556Plantar hyperkeratosis1KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent110
HP:0100872HP:0007556Plantar hyperkeratosis1KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type110
HP:0100872HP:0007556Plantar hyperkeratosis1KRT14 CL E G H38616416OMIM:131900Epidermolysis bullosa simplex, Koebner type110
HP:0100872HP:0007446Palmoplantar blistering1KRT14 CL E G H38616416OMIM:131800Epidermolysis bullosa simplex, Weber-Cockayne type.110
HP:0100872HP:0007446Palmoplantar blistering1KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplexHP:0040281 - Very frequent110
HP:0100872HP:0007556Plantar hyperkeratosis1KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplexHP:0040283 - Occasional110
HP:0100872HP:0007556Plantar hyperkeratosis1KRT14 CL E G H38616416OMIM:161000Naegeli syndrome110
HP:0100872HP:0007556Plantar hyperkeratosis1KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0100872HP:0007556Plantar hyperkeratosis1KRT16 CL E G H38686423ORPHA:2199Epidermolytic palmoplantar keratoderma27
HP:0100872HP:0007446Palmoplantar blistering1KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent27
HP:0100872HP:0007556Plantar hyperkeratosis1KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenita27
HP:0100872HP:0007410Palmoplantar hyperhidrosis1KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent27
HP:0100872HP:0007556Plantar hyperkeratosis1KRT16 CL E G H38686423OMIM:167200Pachyonychia congenita, type 127
HP:0100872HP:0007556Plantar hyperkeratosis1KRT16 CL E G H38686423OMIM:613000Palmoplantar keratoderma, nonepidermolytic, focal 127
HP:0100872HP:0007410Palmoplantar hyperhidrosis1KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent23
HP:0100872HP:0007556Plantar hyperkeratosis1KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenita23
HP:0100872HP:0007446Palmoplantar blistering1KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent23
HP:0100872HP:0007556Plantar hyperkeratosis1KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 223
HP:0100872HP:0007410Palmoplantar hyperhidrosis1KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 2.23
HP:0100872HP:0007556Plantar hyperkeratosis1KRT2 CL E G H38496439ORPHA:455Superficial epidermolytic ichthyosis67
HP:0100872HP:0007556Plantar hyperkeratosis1KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040282 - Frequent173
HP:0100872HP:0007556Plantar hyperkeratosis1KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0100872HP:0007556Plantar hyperkeratosis1KRT5 CL E G H38526442OMIM:619555EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A173
HP:0100872HP:0007446Palmoplantar blistering1KRT5 CL E G H38526442OMIM:619555EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A173
HP:0100872HP:0007446Palmoplantar blistering1KRT5 CL E G H38526442OMIM:619588EPIDERMOLYSIS BULLOSA SIMPLEX 2B, GENERALIZED INTERMEDIATE; EBS2B173
HP:0100872HP:0007446Palmoplantar blistering1KRT5 CL E G H38526442OMIM:619594EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED; EBS2C173
HP:0100872HP:0007556Plantar hyperkeratosis1KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0100872HP:0007556Plantar hyperkeratosis1KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent173
HP:0100872HP:0007556Plantar hyperkeratosis1KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type173
HP:0100872HP:0007556Plantar hyperkeratosis1KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplexHP:0040283 - Occasional173
HP:0100872HP:0007446Palmoplantar blistering1KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplexHP:0040281 - Very frequent173
HP:0100872HP:0007446Palmoplantar blistering1KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent41
HP:0100872HP:0007410Palmoplantar hyperhidrosis1KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent41
HP:0100872HP:0007556Plantar hyperkeratosis1KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenita41
HP:0100872HP:0007556Plantar hyperkeratosis1KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 3.41
HP:0100872HP:0007446Palmoplantar blistering1KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent4
HP:0100872HP:0007410Palmoplantar hyperhidrosis1KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent4
HP:0100872HP:0007556Plantar hyperkeratosis1KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenita4
HP:0100872HP:0007556Plantar hyperkeratosis1KRT6B CL E G H38546444OMIM:615728Pachyonychia congenita 44
HP:0100872HP:0007556Plantar hyperkeratosis1KRT6C CL E G H28688720406OMIM:615735Palmoplantar keratoderma, nonepidermolytic, focal or diffuse4
HP:0100872HP:0007556Plantar hyperkeratosis1KRT83 CL E G H38896460OMIM:617756Erythrokeratodermia variabilis et progressiva 565
HP:0100872HP:0007556Plantar hyperkeratosis1KRT83 CL E G H38896460ORPHA:316Progressive symmetric erythrokeratodermia65
HP:0100872HP:0007556Plantar hyperkeratosis1KRT9 CL E G H38576447ORPHA:2199Epidermolytic palmoplantar keratoderma66
HP:0100872HP:0007556Plantar hyperkeratosis1KRT9 CL E G H38576447OMIM:144200Palmoplantar keratoderma, epidermolytic.66
HP:0100872HP:0007556Plantar hyperkeratosis1LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:0100872HP:0007556Plantar hyperkeratosis1LAMA4 CL E G H39106484ORPHA:154Familial isolated dilated cardiomyopathy279
HP:0100872HP:0007556Plantar hyperkeratosis1LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type.167
HP:0100872HP:0007556Plantar hyperkeratosis1LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:0100872HP:0007556Plantar hyperkeratosis1LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:0100872HP:0007556Plantar hyperkeratosis1LDB3 CL E G H1115515710ORPHA:154Familial isolated dilated cardiomyopathy286
HP:0100872HP:0007556Plantar hyperkeratosis1LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0100872HP:0007556Plantar hyperkeratosis1LMNA CL E G H40006636ORPHA:154Familial isolated dilated cardiomyopathy645
HP:0100872HP:0007556Plantar hyperkeratosis1LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosis
HP:0100872HP:0007556Plantar hyperkeratosis1LORICRIN CL E G H40146663ORPHA:316Progressive symmetric erythrokeratodermia
HP:0100872HP:0007517Palmoplantar cutis laxa1LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0100872HP:0007517Palmoplantar cutis laxa1LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0100872HP:0007556Plantar hyperkeratosis1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0100872HP:0007556Plantar hyperkeratosis1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0100872HP:0007556Plantar hyperkeratosis1MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0100872HP:0007556Plantar hyperkeratosis1MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0100872HP:0007410Palmoplantar hyperhidrosis1MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent22
HP:0100872HP:0007556Plantar hyperkeratosis1MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques22
HP:0100872HP:0007556Plantar hyperkeratosis1MBTPS2 CL E G H5136015455OMIM:300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked22
HP:0100872HP:0007556Plantar hyperkeratosis1MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IV78
HP:0100872HP:0007517Palmoplantar cutis laxa1MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0100872HP:0001869Deep plantar creases1MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0100872HP:0007556Plantar hyperkeratosis1MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0100872HP:0007556Plantar hyperkeratosis1MYBPC3 CL E G H46077551ORPHA:154Familial isolated dilated cardiomyopathy1143
HP:0100872HP:0007556Plantar hyperkeratosis1MYH6 CL E G H46247576ORPHA:154Familial isolated dilated cardiomyopathy452
HP:0100872HP:0007556Plantar hyperkeratosis1MYH7 CL E G H46257577ORPHA:154Familial isolated dilated cardiomyopathy1269
HP:0100872HP:0007556Plantar hyperkeratosis1MYPN CL E G H8466523246ORPHA:154Familial isolated dilated cardiomyopathy217
HP:0100872HP:0007556Plantar hyperkeratosis1NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0100872HP:0007556Plantar hyperkeratosis1NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0100872HP:0007556Plantar hyperkeratosis1NEXN CL E G H9162429557ORPHA:154Familial isolated dilated cardiomyopathy167
HP:0100872HP:0007556Plantar hyperkeratosis1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0100872HP:0007556Plantar hyperkeratosis1NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 127
HP:0100872HP:0007556Plantar hyperkeratosis1NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythroderma60
HP:0100872HP:0007556Plantar hyperkeratosis1NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 660
HP:0100872HP:0007556Plantar hyperkeratosis1NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0100872HP:0007556Plantar hyperkeratosis1NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healing37
HP:0100872HP:0007556Plantar hyperkeratosis1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0100872HP:0007556Plantar hyperkeratosis1NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 117
HP:0100872HP:0007556Plantar hyperkeratosis1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0100872HP:0007556Plantar hyperkeratosis1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0100872HP:0007556Plantar hyperkeratosis1PEPD CL E G H51848840ORPHA:742Prolidase deficiency66
HP:0100872HP:0007556Plantar hyperkeratosis1PERP CL E G H6406517637OMIM:619209ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0100872HP:0007410Palmoplantar hyperhidrosis1PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent
HP:0100872HP:0007556Plantar hyperkeratosis1PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0100872HP:0007556Plantar hyperkeratosis1PERP CL E G H6406517637OMIM:619208OLMSTED SYNDROME 2; OLMS2
HP:0100872HP:0007556Plantar hyperkeratosis1PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0100872HP:0001869Deep plantar creases1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0100872HP:0001869Deep plantar creases1PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0100872HP:0001869Deep plantar creases1PIGQ CL E G H909114135OMIM:618548MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS43
HP:0100872HP:0007556Plantar hyperkeratosis1PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0100872HP:0007556Plantar hyperkeratosis1PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0100872HP:0007556Plantar hyperkeratosis1PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndrome107
HP:0100872HP:0007446Palmoplantar blistering1PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0100872HP:0007556Plantar hyperkeratosis1PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0100872HP:0007410Palmoplantar hyperhidrosis1PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0100872HP:0007556Plantar hyperkeratosis1PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy759
HP:0100872HP:0007556Plantar hyperkeratosis1PLEC CL E G H53399069OMIM:616487Epidermolysis bullosa simplex with nail dystrophy.759
HP:0100872HP:0007556Plantar hyperkeratosis1PLEC CL E G H53399069ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement759
HP:0100872HP:0007446Palmoplantar blistering1PLEC CL E G H53399069ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvementHP:0040282 - Frequent759
HP:0100872HP:0007556Plantar hyperkeratosis1PLN CL E G H53509080ORPHA:154Familial isolated dilated cardiomyopathy57
HP:0100872HP:0007517Palmoplantar cutis laxa1PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0100872HP:0007556Plantar hyperkeratosis1PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythroderma47
HP:0100872HP:0007556Plantar hyperkeratosis1PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 1047
HP:0100872HP:0007556Plantar hyperkeratosis1POMP CL E G H5137120330OMIM:601952Keratosis linearis with ichthyosis congenita and sclerosing keratoderma2
HP:0100872HP:0007556Plantar hyperkeratosis1POMP CL E G H5137120330ORPHA:281201Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome2
HP:0100872HP:0007556Plantar hyperkeratosis1PPCS CL E G H7971725686ORPHA:154Familial isolated dilated cardiomyopathy
HP:0100872HP:0007556Plantar hyperkeratosis1PRDM16 CL E G H6397614000ORPHA:154Familial isolated dilated cardiomyopathy148
HP:0100872HP:0007556Plantar hyperkeratosis1PSEN1 CL E G H56639508ORPHA:154Familial isolated dilated cardiomyopathy241
HP:0100872HP:0007556Plantar hyperkeratosis1PSEN2 CL E G H56649509ORPHA:154Familial isolated dilated cardiomyopathy59
HP:0100872HP:0010612Plantar pits1PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0100872HP:0010612Plantar pits1PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040281 - Very frequent665
HP:0100872HP:0010612Plantar pits1PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3HP:0040281 - Very frequent665
HP:0100872HP:0010612Plantar pits1PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0100872HP:0010612Plantar pits1PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040281 - Very frequent40
HP:0100872HP:0007556Plantar hyperkeratosis1PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0100872HP:0007556Plantar hyperkeratosis1PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0100872HP:0007556Plantar hyperkeratosis1RAF1 CL E G H58949829ORPHA:154Familial isolated dilated cardiomyopathy212
HP:0100872HP:0007556Plantar hyperkeratosis1RBM20 CL E G H28299627424ORPHA:154Familial isolated dilated cardiomyopathy363
HP:0100872HP:0007556Plantar hyperkeratosis1RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0100872HP:0007556Plantar hyperkeratosis1RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndrome80
HP:0100872HP:0007556Plantar hyperkeratosis1RHBDF2 CL E G H7965120788OMIM:148500Tylosis with esophageal cancer80
HP:0100872HP:0007517Palmoplantar cutis laxa1RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0100872HP:0007556Plantar hyperkeratosis1RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0100872HP:0007410Palmoplantar hyperhidrosis1RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal.3
HP:0100872HP:0007556Plantar hyperkeratosis1RSPO1 CL E G H28465421679ORPHA:85112Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome3
HP:0100872HP:0007556Plantar hyperkeratosis1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0100872HP:0007556Plantar hyperkeratosis1SASH1 CL E G H2332819182OMIM:618373Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma1
HP:0100872HP:0007556Plantar hyperkeratosis1SCN5A CL E G H633110593ORPHA:154Familial isolated dilated cardiomyopathy1134
HP:0100872HP:0007556Plantar hyperkeratosis1SDHA CL E G H638910680ORPHA:154Familial isolated dilated cardiomyopathy304
HP:0100872HP:0007556Plantar hyperkeratosis1SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0100872HP:0007556Plantar hyperkeratosis1SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0100872HP:0007556Plantar hyperkeratosis1SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0100872HP:0007556Plantar hyperkeratosis1SDR9C7 CL E G H12121429958OMIM:617574Ichthyosis, congenital, autosomal recessive 132
HP:0100872HP:0007556Plantar hyperkeratosis1SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0100872HP:0007556Plantar hyperkeratosis1SERPINA12 CL E G H14526418359ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
HP:0100872HP:0007410Palmoplantar hyperhidrosis1SERPINB7 CL E G H871013902OMIM:615598Palmoplantar keratoderma, Nagashima type.4
HP:0100872HP:0007556Plantar hyperkeratosis1SERPINB7 CL E G H871013902ORPHA:140966Palmoplantar keratoderma, Nagashima type4
HP:0100872HP:0007556Plantar hyperkeratosis1SGCD CL E G H644410807ORPHA:154Familial isolated dilated cardiomyopathy223
HP:0100872HP:0007556Plantar hyperkeratosis1SLCO2A1 CL E G H657810955ORPHA:2796Pachydermoperiostosis13
HP:0100872HP:0007556Plantar hyperkeratosis1SLURP1 CL E G H5715218746ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen type15
HP:0100872HP:0007556Plantar hyperkeratosis1SLURP1 CL E G H5715218746ORPHA:87503Mal de Meleda15
HP:0100872HP:0007556Plantar hyperkeratosis1SLURP1 CL E G H5715218746OMIM:248300Meleda disease15
HP:0100872HP:0007556Plantar hyperkeratosis1SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0100872HP:0007556Plantar hyperkeratosis1SMARCAD1 CL E G H5691618398ORPHA:384Huriez syndrome6
HP:0100872HP:0007556Plantar hyperkeratosis1SMARCAD1 CL E G H5691618398OMIM:181600Huriez syndrome6
HP:0100872HP:0007556Plantar hyperkeratosis1SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndrome94
HP:0100872HP:0007556Plantar hyperkeratosis1SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0100872HP:0100870Plantar telangiectasia1SOX18 CL E G H5434511194ORPHA:69735Hypotrichosis-lymphedema-telangiectasia-renal defect syndromeHP:0040281 - Very frequent7
HP:0100872HP:0007556Plantar hyperkeratosis1SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDG80
HP:0100872HP:0007556Plantar hyperkeratosis1STS CL E G H41211425OMIM:308100Ichthyosis, X-linked19
HP:0100872HP:0010612Plantar pits1SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0100872HP:0010612Plantar pits1SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040281 - Very frequent124
HP:0100872HP:0007556Plantar hyperkeratosis1TAF1A CL E G H901511532ORPHA:154Familial isolated dilated cardiomyopathy
HP:0100872HP:0007556Plantar hyperkeratosis1TAFAZZIN CL E G H690111577ORPHA:154Familial isolated dilated cardiomyopathy
HP:0100872HP:0007556Plantar hyperkeratosis1TAT CL E G H689811573ORPHA:28378Tyrosinemia type 243
HP:0100872HP:0001869Deep plantar creases1TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0100872HP:0007556Plantar hyperkeratosis1TCAP CL E G H855711610ORPHA:154Familial isolated dilated cardiomyopathy78
HP:0100872HP:0007556Plantar hyperkeratosis1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0100872HP:0007556Plantar hyperkeratosis1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0100872HP:0007556Plantar hyperkeratosis1TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2238
HP:0100872HP:0007556Plantar hyperkeratosis1TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosis98
HP:0100872HP:0007556Plantar hyperkeratosis1TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythroderma98
HP:0100872HP:0007556Plantar hyperkeratosis1TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 198
HP:0100872HP:0007556Plantar hyperkeratosis1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0100872HP:0007556Plantar hyperkeratosis1TMPO CL E G H711211875ORPHA:154Familial isolated dilated cardiomyopathy136
HP:0100872HP:0007556Plantar hyperkeratosis1TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndrome
HP:0100872HP:0007556Plantar hyperkeratosis1TNNC1 CL E G H713411943ORPHA:154Familial isolated dilated cardiomyopathy73
HP:0100872HP:0007556Plantar hyperkeratosis1TNNI3 CL E G H713711947ORPHA:154Familial isolated dilated cardiomyopathy180
HP:0100872HP:0007556Plantar hyperkeratosis1TNNT2 CL E G H713911949ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0100872HP:0007556Plantar hyperkeratosis1TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0100872HP:0007556Plantar hyperkeratosis1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0100872HP:0007556Plantar hyperkeratosis1TPM1 CL E G H716812010ORPHA:154Familial isolated dilated cardiomyopathy230
HP:0100872HP:0007556Plantar hyperkeratosis1TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndromeHP:0040283 - Occasional27
HP:0100872HP:0007556Plantar hyperkeratosis1TRNS1 CL E G H45747497ORPHA:2202Palmoplantar keratoderma-deafness syndrome
HP:0100872HP:0007556Plantar hyperkeratosis1TRPM4 CL E G H5479517993ORPHA:316Progressive symmetric erythrokeratodermia124
HP:0100872HP:0007410Palmoplantar hyperhidrosis1TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent151
HP:0100872HP:0007556Plantar hyperkeratosis1TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques151
HP:0100872HP:0007556Plantar hyperkeratosis1TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques151
HP:0100872HP:0007556Plantar hyperkeratosis1TRPV3 CL E G H16251418084OMIM:616400Palmoplantar keratoderma, nonepidermolytic, focal 2151
HP:0100872HP:0007556Plantar hyperkeratosis1TTN CL E G H727312403ORPHA:154Familial isolated dilated cardiomyopathy7128
HP:0100872HP:0007556Plantar hyperkeratosis1TXNRD2 CL E G H1058718155ORPHA:154Familial isolated dilated cardiomyopathy85
HP:0100872HP:0007556Plantar hyperkeratosis1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0100872HP:0007556Plantar hyperkeratosis1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0100872HP:0007556Plantar hyperkeratosis1USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0100872HP:0007556Plantar hyperkeratosis1USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0100872HP:0007556Plantar hyperkeratosis1VCL CL E G H741412665ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0100872HP:0007556Plantar hyperkeratosis1VPS33B CL E G H2627612712OMIM:62000963
HP:0100872HP:0007410Palmoplantar hyperhidrosis1WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia.71
HP:0100872HP:0007556Plantar hyperkeratosis1WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0100872HP:0007556Plantar hyperkeratosis1WNT10A CL E G H8032613829ORPHA:50944Schöpf-Schulz-Passarge syndrome71
HP:0100872HP:0007556Plantar hyperkeratosis1WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome71
HP:0100872HP:0007410Palmoplantar hyperhidrosis1WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0100872HP:0007556Plantar hyperkeratosis1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0100872HP:0007517Palmoplantar cutis laxa1ZNF469 CL E G H8462723216OMIM:229200Brittle cornea syndrome.397
HP:0100872HP:0000972Palmoplantar hyperkeratosis2AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0100872HP:0000972Palmoplantar hyperkeratosis2AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0100872HP:0000972Palmoplantar hyperkeratosis2AAGAB CL E G H7971925662OMIM:148600Palmoplantar keratoderma, punctate type IA7
HP:0100872HP:0000972Palmoplantar hyperkeratosis2AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040281 - Very frequent7
HP:0100872HP:0000972Palmoplantar hyperkeratosis2ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythroderma130
HP:0100872HP:0000972Palmoplantar hyperkeratosis2ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A130
HP:0100872HP:0000972Palmoplantar hyperkeratosis2ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathy254
HP:0100872HP:0000972Palmoplantar hyperkeratosis2ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathy208
HP:0100872HP:0000972Palmoplantar hyperkeratosis2ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathy307
HP:0100872HP:0000972Palmoplantar hyperkeratosis2AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0100872HP:0000972Palmoplantar hyperkeratosis2AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0100872HP:0000972Palmoplantar hyperkeratosis2ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythroderma75
HP:0100872HP:0000972Palmoplantar hyperkeratosis2ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0100872HP:0000972Palmoplantar hyperkeratosis2ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythroderma63
HP:0100872HP:0000972Palmoplantar hyperkeratosis2ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0100872HP:0000972Palmoplantar hyperkeratosis2ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 363
HP:0100872HP:0000972Palmoplantar hyperkeratosis2ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathy95
HP:0100872HP:0000972Palmoplantar hyperkeratosis2AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0100872HP:0000972Palmoplantar hyperkeratosis2AQP5 CL E G H362638ORPHA:2337Non-epidermolytic palmoplantar keratoderma5
HP:0100872HP:0000972Palmoplantar hyperkeratosis2AQP5 CL E G H362638OMIM:600231PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB5
HP:0100872HP:0000972Palmoplantar hyperkeratosis2ATP2A2 CL E G H488812OMIM:101900Acrokeratosis verruciformis86
HP:0100872HP:0000972Palmoplantar hyperkeratosis2ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of Hopf86
HP:0100872HP:0000972Palmoplantar hyperkeratosis2ATP2A2 CL E G H488812ORPHA:218Darier disease86
HP:0100872HP:0000972Palmoplantar hyperkeratosis2BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathy204
HP:0100872HP:0000972Palmoplantar hyperkeratosis2BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathy
HP:0100872HP:0000972Palmoplantar hyperkeratosis2BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0100872HP:0000972Palmoplantar hyperkeratosis2CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathy
HP:0100872HP:0000972Palmoplantar hyperkeratosis2CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris33
HP:0100872HP:0000972Palmoplantar hyperkeratosis2CARD14 CL E G H7909216446