Human Phenotype Ontology 
Grandparent Node:
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Epidermal thickening (HP:0011368)help
Parent Node:
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Abnormal skin morphology of the palm (HP:0040211)help
Parent Node:
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Hyperkeratosis (HP:0000962)help
..Starting node
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Palmar hyperkeratosis (HP:0010765)help
Term ID: 10765
Name: Palmar hyperkeratosis
Synonym:
Definition: Abnormal thickening of the skin localized to the palm of the hand.
Comments:
Reference: HP:0010765
Genes and Diseases:
 
       Child Nodes:
........expandPalmoplantar hyperkeratosis (HP:0000972) help
................... HP:0007447 Diffuse palmoplantar hyperkeratosis
................... HP:0007497 Focal friction-related palmoplantar hyperkeratosis
................... HP:0007530 Punctate palmoplantar hyperkeratosis
................... HP:0007545 Congenital palmoplantar keratosis
................... HP:0007548 Palmoplantar keratosis with erythema and scale
................... HP:0007553 Congenital symmetrical palmoplantar keratosis
................... HP:0007613 Spinous keratoses of palms and soles
........expandPunctate palmar hyperkeratosis (HP:0007508) help

 Sister Nodes: 
..expandCircumungual hyperkeratosis (HP:0008399) help
..expandCobblestone-like hyperkeratosis (HP:0031288) help
..expandEpidermal hyperkeratosis (HP:0007543) help
..expandFollicular hyperkeratosis (HP:0007502) help
..expandGeneralized hyperkeratosis (HP:0005595) help
..expandGingival hyperkeratosis (HP:0000222) help
..expandHyperkeratosis lenticularis perstans (HP:0007570) help
..expandHyperkeratosis over edematous areas (HP:0007448) help
..expandHyperkeratosis with erythema (HP:0007390) help
..expandHyperkeratotic papule (HP:0045059) help
..expandHyperparakeratosis (HP:0040009) help
..expandLinear arrays of macular hyperkeratoses in flexural areas (HP:0007490) help
..expandobsolete Hyperkeratosis pilaris (HP:0040180) help
..expandOrthokeratotic hyperkeratosis (HP:0025080) help
..expandPalmoplantar keratoderma (HP:0000982) help
..expandPerifollicular hyperkeratosis (HP:0007468) help
..expandPlantar hyperkeratosis (HP:0007556) help
..expandStreaks of hyperkeratosis along each finger onto the palm (HP:0007501) help
..expandSubungual hyperkeratosis (HP:0008392) help
..expandSubungual hyperkeratotic fragments (HP:0008410) 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:0010765HP:0010765Palmar hyperkeratosis0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0010765HP:0010765Palmar hyperkeratosis0AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0010765HP:0010765Palmar hyperkeratosis0AAGAB CL E G H7971925662OMIM:148600Palmoplantar keratoderma, punctate type IA7
HP:0010765HP:0010765Palmar hyperkeratosis0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0010765HP:0010765Palmar hyperkeratosis0ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythroderma130
HP:0010765HP:0010765Palmar hyperkeratosis0ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A130
HP:0010765HP:0010765Palmar hyperkeratosis0ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathy254
HP:0010765HP:0010765Palmar hyperkeratosis0ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathy208
HP:0010765HP:0010765Palmar hyperkeratosis0ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathy307
HP:0010765HP:0010765Palmar hyperkeratosis0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0010765HP:0010765Palmar hyperkeratosis0AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0010765HP:0010765Palmar hyperkeratosis0ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythroderma75
HP:0010765HP:0010765Palmar hyperkeratosis0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0010765HP:0010765Palmar hyperkeratosis0ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythroderma63
HP:0010765HP:0010765Palmar hyperkeratosis0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0010765HP:0010765Palmar hyperkeratosis0ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 363
HP:0010765HP:0010765Palmar hyperkeratosis0ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathy95
HP:0010765HP:0010765Palmar hyperkeratosis0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0010765HP:0010765Palmar hyperkeratosis0AQP5 CL E G H362638ORPHA:2337Non-epidermolytic palmoplantar keratoderma5
HP:0010765HP:0010765Palmar hyperkeratosis0AQP5 CL E G H362638OMIM:600231PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB5
HP:0010765HP:0010765Palmar hyperkeratosis0ATP2A2 CL E G H488812OMIM:101900Acrokeratosis verruciformis86
HP:0010765HP:0010765Palmar hyperkeratosis0ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of Hopf86
HP:0010765HP:0010765Palmar hyperkeratosis0ATP2A2 CL E G H488812ORPHA:218Darier disease86
HP:0010765HP:0010765Palmar hyperkeratosis0BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathy204
HP:0010765HP:0010765Palmar hyperkeratosis0BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathy
HP:0010765HP:0010765Palmar hyperkeratosis0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0010765HP:0010765Palmar hyperkeratosis0CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathy
HP:0010765HP:0010765Palmar hyperkeratosis0CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilaris33
HP:0010765HP:0010765Palmar hyperkeratosis0CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris33
HP:0010765HP:0010765Palmar hyperkeratosis0CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads4
HP:0010765HP:0010765Palmar hyperkeratosis0CD28 CL E G H9401653ORPHA:3162Sézary syndrome
HP:0010765HP:0010765Palmar hyperkeratosis0CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythroderma5
HP:0010765HP:0010765Palmar hyperkeratosis0CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0010765HP:0010765Palmar hyperkeratosis0COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome71
HP:0010765HP:0010765Palmar hyperkeratosis0COG6 CL E G H5751118621OMIM:615328Shaheen syndrome71
HP:0010765HP:0010765Palmar hyperkeratosis0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0010765HP:0010765Palmar hyperkeratosis0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0010765HP:0010765Palmar hyperkeratosis0COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral form263
HP:0010765HP:0010765Palmar hyperkeratosis0CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathy46
HP:0010765HP:0010765Palmar hyperkeratosis0CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathy104
HP:0010765HP:0010765Palmar hyperkeratosis0CSTA CL E G H14752481OMIM:607936Peeling skin syndrome 44
HP:0010765HP:0010765Palmar hyperkeratosis0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0010765HP:0010765Palmar hyperkeratosis0CTLA4 CL E G H14932505ORPHA:3162Sézary syndrome10
HP:0010765HP:0010765Palmar hyperkeratosis0CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome50
HP:0010765HP:0010765Palmar hyperkeratosis0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0010765HP:0010765Palmar hyperkeratosis0CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome50
HP:0010765HP:0010765Palmar hyperkeratosis0CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 554
HP:0010765HP:0010765Palmar hyperkeratosis0DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathy263
HP:0010765HP:0010765Palmar hyperkeratosis0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0010765HP:0010765Palmar hyperkeratosis0DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathy1496
HP:0010765HP:0010765Palmar hyperkeratosis0DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathy55
HP:0010765HP:0010765Palmar hyperkeratosis0DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11268
HP:0010765HP:0010765Palmar hyperkeratosis0DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige16
HP:0010765HP:0010765Palmar hyperkeratosis0DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0010765HP:0010765Palmar hyperkeratosis0DSG1 CL E G H18283048ORPHA:50942Striate palmoplantar keratoderma16
HP:0010765HP:0010765Palmar hyperkeratosis0DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathy358
HP:0010765HP:0010765Palmar hyperkeratosis0DSP CL E G H18323052OMIM:605676Cardiomyopathy, dilated, with woolly hair and keratoderma747
HP:0010765HP:0010765Palmar hyperkeratosis0DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis747
HP:0010765HP:0010765Palmar hyperkeratosis0DSP CL E G H18323052ORPHA:65282Carvajal syndrome747
HP:0010765HP:0010765Palmar hyperkeratosis0DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathy747
HP:0010765HP:0010765Palmar hyperkeratosis0DSP CL E G H18323052OMIM:612908Keratosis palmoplantaris striata II747
HP:0010765HP:0010765Palmar hyperkeratosis0DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome747
HP:0010765HP:0010765Palmar hyperkeratosis0DSP CL E G H18323052ORPHA:50942Striate palmoplantar keratoderma747
HP:0010765HP:0010765Palmar hyperkeratosis0ENPP1 CL E G H51673356OMIM:615522Cole disease151
HP:0010765HP:0010765Palmar hyperkeratosis0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosa136
HP:0010765HP:0010765Palmar hyperkeratosis0FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0010765HP:0010765Palmar hyperkeratosis0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0010765HP:0010765Palmar hyperkeratosis0FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathy36
HP:0010765HP:0010765Palmar hyperkeratosis0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0010765HP:0010765Palmar hyperkeratosis0FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathy184
HP:0010765HP:0010765Palmar hyperkeratosis0GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathy35
HP:0010765HP:0010765Palmar hyperkeratosis0GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0010765HP:0010765Palmar hyperkeratosis0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilis68
HP:0010765HP:0010765Palmar hyperkeratosis0GJA1 CL E G H26974274OMIM:617525Erythrokeratodermia variabilis et progressiva 368
HP:0010765HP:0010765Palmar hyperkeratosis0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0010765HP:0010765Palmar hyperkeratosis0GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0010765HP:0010765Palmar hyperkeratosis0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0010765HP:0010765Palmar hyperkeratosis0GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilans199
HP:0010765HP:0010765Palmar hyperkeratosis0GJB2 CL E G H27064284OMIM:148350Keratoderma, palmoplantar, with deafness199
HP:0010765HP:0010765Palmar hyperkeratosis0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0010765HP:0010765Palmar hyperkeratosis0GJB2 CL E G H27064284OMIM:149200Knuckle pads, leukonychia, and sensorineural deafness199
HP:0010765HP:0010765Palmar hyperkeratosis0GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome199
HP:0010765HP:0010765Palmar hyperkeratosis0GJB2 CL E G H27064284ORPHA:2202Palmoplantar keratoderma-deafness syndrome199
HP:0010765HP:0010765Palmar hyperkeratosis0GJB2 CL E G H27064284OMIM:124500VOHWINKEL SYNDROME; VOWNKL199
HP:0010765HP:0010765Palmar hyperkeratosis0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilis74
HP:0010765HP:0010765Palmar hyperkeratosis0GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 174
HP:0010765HP:0010765Palmar hyperkeratosis0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilis12
HP:0010765HP:0010765Palmar hyperkeratosis0GJB4 CL E G H1275344286OMIM:617524Erythrokeratodermia variabilis et progressiva 212
HP:0010765HP:0010765Palmar hyperkeratosis0GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0010765HP:0010765Palmar hyperkeratosis0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0010765HP:0010765Palmar hyperkeratosis0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0010765HP:0010765Palmar hyperkeratosis0GMPPA CL E G H2992622923ORPHA:869Triple A syndrome24
HP:0010765HP:0010765Palmar hyperkeratosis0HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathy2
HP:0010765HP:0010765Palmar hyperkeratosis0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 155
HP:0010765HP:0010765Palmar hyperkeratosis0HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0010765HP:0010765Palmar hyperkeratosis0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0010765HP:0010765Palmar hyperkeratosis0JUP CL E G H37286207ORPHA:34217Naxos disease222
HP:0010765HP:0010765Palmar hyperkeratosis0JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0010765HP:0010765Palmar hyperkeratosis0KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair1
HP:0010765HP:0010765Palmar hyperkeratosis0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilis4
HP:0010765HP:0010765Palmar hyperkeratosis0KDSR CL E G H25314021OMIM:617526Erythrokeratodermia variabilis et progressiva 44
HP:0010765HP:0010765Palmar hyperkeratosis0KDSR CL E G H25314021ORPHA:316Progressive symmetric erythrokeratodermia4
HP:0010765HP:0010765Palmar hyperkeratosis0KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0010765HP:0010765Palmar hyperkeratosis0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0010765HP:0010765Palmar hyperkeratosis0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0010765HP:0010765Palmar hyperkeratosis0KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosis100
HP:0010765HP:0010765Palmar hyperkeratosis0KRT1 CL E G H38486412OMIM:113800Epidermolytic hyperkeratosis100
HP:0010765HP:0010765Palmar hyperkeratosis0KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0010765HP:0010765Palmar hyperkeratosis0KRT1 CL E G H38486412ORPHA:79503Ichthyosis hystrix of Curth-Macklin100
HP:0010765HP:0010765Palmar hyperkeratosis0KRT1 CL E G H38486412OMIM:607654KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3100
HP:0010765HP:0010765Palmar hyperkeratosis0KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratoderma100
HP:0010765HP:0010765Palmar hyperkeratosis0KRT1 CL E G H38486412OMIM:144200Palmoplantar keratoderma, epidermolytic.100
HP:0010765HP:0010765Palmar hyperkeratosis0KRT1 CL E G H38486412OMIM:600962PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK100
HP:0010765HP:0010765Palmar hyperkeratosis0KRT1 CL E G H38486412ORPHA:50942Striate palmoplantar keratoderma100
HP:0010765HP:0010765Palmar hyperkeratosis0KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosis45
HP:0010765HP:0010765Palmar hyperkeratosis0KRT10 CL E G H38586413OMIM:113800Epidermolytic hyperkeratosis45
HP:0010765HP:0010765Palmar hyperkeratosis0KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular45
HP:0010765HP:0010765Palmar hyperkeratosis0KRT10 CL E G H38586413OMIM:607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis45
HP:0010765HP:0010765Palmar hyperkeratosis0KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040282 - Frequent110
HP:0010765HP:0010765Palmar hyperkeratosis0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0010765HP:0010765Palmar hyperkeratosis0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplex110
HP:0010765HP:0010765Palmar hyperkeratosis0KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis110
HP:0010765HP:0010765Palmar hyperkeratosis0KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent110
HP:0010765HP:0010765Palmar hyperkeratosis0KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type110
HP:0010765HP:0010765Palmar hyperkeratosis0KRT14 CL E G H38616416OMIM:131900Epidermolysis bullosa simplex, Koebner type110
HP:0010765HP:0010765Palmar hyperkeratosis0KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplexHP:0040283 - Occasional110
HP:0010765HP:0010765Palmar hyperkeratosis0KRT14 CL E G H38616416OMIM:161000Naegeli syndrome110
HP:0010765HP:0010765Palmar hyperkeratosis0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0010765HP:0010765Palmar hyperkeratosis0KRT16 CL E G H38686423ORPHA:2199Epidermolytic palmoplantar keratoderma27
HP:0010765HP:0010765Palmar hyperkeratosis0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent27
HP:0010765HP:0010765Palmar hyperkeratosis0KRT16 CL E G H38686423OMIM:167200Pachyonychia congenita, type 127
HP:0010765HP:0010765Palmar hyperkeratosis0KRT16 CL E G H38686423OMIM:613000Palmoplantar keratoderma, nonepidermolytic, focal 127
HP:0010765HP:0010765Palmar hyperkeratosis0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent23
HP:0010765HP:0010765Palmar hyperkeratosis0KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 223
HP:0010765HP:0010765Palmar hyperkeratosis0KRT2 CL E G H38496439ORPHA:455Superficial epidermolytic ichthyosis67
HP:0010765HP:0010765Palmar hyperkeratosis0KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040282 - Frequent173
HP:0010765HP:0010765Palmar hyperkeratosis0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0010765HP:0010765Palmar hyperkeratosis0KRT5 CL E G H38526442OMIM:619555EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A173
HP:0010765HP:0010765Palmar hyperkeratosis0KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentationHP:0040282 - Frequent173
HP:0010765HP:0010765Palmar hyperkeratosis0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0010765HP:0010765Palmar hyperkeratosis0KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type173
HP:0010765HP:0010765Palmar hyperkeratosis0KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplexHP:0040283 - Occasional173
HP:0010765HP:0010765Palmar hyperkeratosis0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent41
HP:0010765HP:0010765Palmar hyperkeratosis0KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 3.41
HP:0010765HP:0010765Palmar hyperkeratosis0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040282 - Frequent4
HP:0010765HP:0010765Palmar hyperkeratosis0KRT6B CL E G H38546444OMIM:615728Pachyonychia congenita 44
HP:0010765HP:0010765Palmar hyperkeratosis0KRT6C CL E G H28688720406OMIM:615735Palmoplantar keratoderma, nonepidermolytic, focal or diffuse4
HP:0010765HP:0010765Palmar hyperkeratosis0KRT83 CL E G H38896460OMIM:617756Erythrokeratodermia variabilis et progressiva 565
HP:0010765HP:0010765Palmar hyperkeratosis0KRT83 CL E G H38896460ORPHA:316Progressive symmetric erythrokeratodermia65
HP:0010765HP:0010765Palmar hyperkeratosis0KRT9 CL E G H38576447ORPHA:2199Epidermolytic palmoplantar keratoderma66
HP:0010765HP:0010765Palmar hyperkeratosis0KRT9 CL E G H38576447OMIM:144200Palmoplantar keratoderma, epidermolytic.66
HP:0010765HP:0010765Palmar hyperkeratosis0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:0010765HP:0010765Palmar hyperkeratosis0LAMA4 CL E G H39106484ORPHA:154Familial isolated dilated cardiomyopathy279
HP:0010765HP:0010765Palmar hyperkeratosis0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:0010765HP:0010765Palmar hyperkeratosis0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:0010765HP:0010765Palmar hyperkeratosis0LDB3 CL E G H1115515710ORPHA:154Familial isolated dilated cardiomyopathy286
HP:0010765HP:0010765Palmar hyperkeratosis0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0010765HP:0010765Palmar hyperkeratosis0LMNA CL E G H40006636ORPHA:154Familial isolated dilated cardiomyopathy645
HP:0010765HP:0010765Palmar hyperkeratosis0LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosis
HP:0010765HP:0010765Palmar hyperkeratosis0LORICRIN CL E G H40146663ORPHA:316Progressive symmetric erythrokeratodermia
HP:0010765HP:0010765Palmar hyperkeratosis0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0010765HP:0010765Palmar hyperkeratosis0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0010765HP:0010765Palmar hyperkeratosis0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0010765HP:0010765Palmar hyperkeratosis0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0010765HP:0010765Palmar hyperkeratosis0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques22
HP:0010765HP:0010765Palmar hyperkeratosis0MBTPS2 CL E G H5136015455OMIM:300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked22
HP:0010765HP:0010765Palmar hyperkeratosis0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IV78
HP:0010765HP:0010765Palmar hyperkeratosis0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0010765HP:0010765Palmar hyperkeratosis0MYBPC3 CL E G H46077551ORPHA:154Familial isolated dilated cardiomyopathy1143
HP:0010765HP:0010765Palmar hyperkeratosis0MYH6 CL E G H46247576ORPHA:154Familial isolated dilated cardiomyopathy452
HP:0010765HP:0010765Palmar hyperkeratosis0MYH7 CL E G H46257577ORPHA:154Familial isolated dilated cardiomyopathy1269
HP:0010765HP:0010765Palmar hyperkeratosis0MYPN CL E G H8466523246ORPHA:154Familial isolated dilated cardiomyopathy217
HP:0010765HP:0010765Palmar hyperkeratosis0NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0010765HP:0010765Palmar hyperkeratosis0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0010765HP:0010765Palmar hyperkeratosis0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 1.7
HP:0010765HP:0010765Palmar hyperkeratosis0NEXN CL E G H9162429557ORPHA:154Familial isolated dilated cardiomyopathy167
HP:0010765HP:0010765Palmar hyperkeratosis0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0010765HP:0010765Palmar hyperkeratosis0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 127
HP:0010765HP:0010765Palmar hyperkeratosis0NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythroderma60
HP:0010765HP:0010765Palmar hyperkeratosis0NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 660
HP:0010765HP:0010765Palmar hyperkeratosis0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0010765HP:0010765Palmar hyperkeratosis0NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healing37
HP:0010765HP:0010765Palmar hyperkeratosis0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0010765HP:0010765Palmar hyperkeratosis0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 117
HP:0010765HP:0010765Palmar hyperkeratosis0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0010765HP:0010765Palmar hyperkeratosis0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0010765HP:0010765Palmar hyperkeratosis0PEPD CL E G H51848840ORPHA:742Prolidase deficiency66
HP:0010765HP:0010765Palmar hyperkeratosis0PERP CL E G H6406517637OMIM:619209ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0010765HP:0010765Palmar hyperkeratosis0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0010765HP:0010765Palmar hyperkeratosis0PERP CL E G H6406517637OMIM:619208OLMSTED SYNDROME 2; OLMS2
HP:0010765HP:0010765Palmar hyperkeratosis0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0010765HP:0010765Palmar hyperkeratosis0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0010765HP:0010765Palmar hyperkeratosis0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0010765HP:0010765Palmar hyperkeratosis0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndrome107
HP:0010765HP:0010765Palmar hyperkeratosis0PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0010765HP:0010765Palmar hyperkeratosis0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy759
HP:0010765HP:0010765Palmar hyperkeratosis0PLEC CL E G H53399069ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement759
HP:0010765HP:0010765Palmar hyperkeratosis0PLN CL E G H53509080ORPHA:154Familial isolated dilated cardiomyopathy57
HP:0010765HP:0010765Palmar hyperkeratosis0PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythroderma47
HP:0010765HP:0010765Palmar hyperkeratosis0PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 1047
HP:0010765HP:0010765Palmar hyperkeratosis0POMP CL E G H5137120330OMIM:601952Keratosis linearis with ichthyosis congenita and sclerosing keratoderma2
HP:0010765HP:0010765Palmar hyperkeratosis0POMP CL E G H5137120330ORPHA:281201Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome2
HP:0010765HP:0010765Palmar hyperkeratosis0PPCS CL E G H7971725686ORPHA:154Familial isolated dilated cardiomyopathy
HP:0010765HP:0010765Palmar hyperkeratosis0PRDM16 CL E G H6397614000ORPHA:154Familial isolated dilated cardiomyopathy148
HP:0010765HP:0010765Palmar hyperkeratosis0PSEN1 CL E G H56639508ORPHA:154Familial isolated dilated cardiomyopathy241
HP:0010765HP:0010765Palmar hyperkeratosis0PSEN2 CL E G H56649509ORPHA:154Familial isolated dilated cardiomyopathy59
HP:0010765HP:0010765Palmar hyperkeratosis0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0010765HP:0010765Palmar hyperkeratosis0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0010765HP:0010765Palmar hyperkeratosis0RAF1 CL E G H58949829ORPHA:154Familial isolated dilated cardiomyopathy212
HP:0010765HP:0010765Palmar hyperkeratosis0RBM20 CL E G H28299627424ORPHA:154Familial isolated dilated cardiomyopathy363
HP:0010765HP:0010765Palmar hyperkeratosis0RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndrome80
HP:0010765HP:0010765Palmar hyperkeratosis0RHBDF2 CL E G H7965120788OMIM:148500Tylosis with esophageal cancer80
HP:0010765HP:0010765Palmar hyperkeratosis0RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0010765HP:0010765Palmar hyperkeratosis0RSPO1 CL E G H28465421679ORPHA:85112Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome3
HP:0010765HP:0010765Palmar hyperkeratosis0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0010765HP:0010765Palmar hyperkeratosis0SASH1 CL E G H2332819182OMIM:618373Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma1
HP:0010765HP:0010765Palmar hyperkeratosis0SCN5A CL E G H633110593ORPHA:154Familial isolated dilated cardiomyopathy1134
HP:0010765HP:0010765Palmar hyperkeratosis0SDHA CL E G H638910680ORPHA:154Familial isolated dilated cardiomyopathy304
HP:0010765HP:0010765Palmar hyperkeratosis0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0010765HP:0010765Palmar hyperkeratosis0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0010765HP:0010765Palmar hyperkeratosis0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0010765HP:0010765Palmar hyperkeratosis0SDR9C7 CL E G H12121429958OMIM:617574Ichthyosis, congenital, autosomal recessive 132
HP:0010765HP:0010765Palmar hyperkeratosis0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0010765HP:0010765Palmar hyperkeratosis0SERPINA12 CL E G H14526418359ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
HP:0010765HP:0010765Palmar hyperkeratosis0SERPINB7 CL E G H871013902ORPHA:140966Palmoplantar keratoderma, Nagashima type4
HP:0010765HP:0010765Palmar hyperkeratosis0SGCD CL E G H644410807ORPHA:154Familial isolated dilated cardiomyopathy223
HP:0010765HP:0010765Palmar hyperkeratosis0SLCO2A1 CL E G H657810955ORPHA:2796Pachydermoperiostosis13
HP:0010765HP:0010765Palmar hyperkeratosis0SLURP1 CL E G H5715218746ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen type15
HP:0010765HP:0010765Palmar hyperkeratosis0SLURP1 CL E G H5715218746ORPHA:87503Mal de Meleda15
HP:0010765HP:0010765Palmar hyperkeratosis0SLURP1 CL E G H5715218746OMIM:248300Meleda disease15
HP:0010765HP:0010765Palmar hyperkeratosis0SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0010765HP:0010765Palmar hyperkeratosis0SMARCAD1 CL E G H5691618398OMIM:136000Fingerprints, absence of.6
HP:0010765HP:0010765Palmar hyperkeratosis0SMARCAD1 CL E G H5691618398ORPHA:384Huriez syndrome6
HP:0010765HP:0010765Palmar hyperkeratosis0SMARCAD1 CL E G H5691618398OMIM:181600Huriez syndrome6
HP:0010765HP:0010765Palmar hyperkeratosis0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndrome94
HP:0010765HP:0010765Palmar hyperkeratosis0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0010765HP:0010765Palmar hyperkeratosis0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDG80
HP:0010765HP:0010765Palmar hyperkeratosis0STS CL E G H41211425OMIM:308100Ichthyosis, X-linked19
HP:0010765HP:0010765Palmar hyperkeratosis0TAF1A CL E G H901511532ORPHA:154Familial isolated dilated cardiomyopathy
HP:0010765HP:0010765Palmar hyperkeratosis0TAFAZZIN CL E G H690111577ORPHA:154Familial isolated dilated cardiomyopathy
HP:0010765HP:0010765Palmar hyperkeratosis0TAT CL E G H689811573ORPHA:28378Tyrosinemia type 243
HP:0010765HP:0010765Palmar hyperkeratosis0TCAP CL E G H855711610ORPHA:154Familial isolated dilated cardiomyopathy78
HP:0010765HP:0010765Palmar hyperkeratosis0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0010765HP:0010765Palmar hyperkeratosis0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0010765HP:0010765Palmar hyperkeratosis0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2238
HP:0010765HP:0010765Palmar hyperkeratosis0TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosis98
HP:0010765HP:0010765Palmar hyperkeratosis0TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythroderma98
HP:0010765HP:0010765Palmar hyperkeratosis0TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 198
HP:0010765HP:0010765Palmar hyperkeratosis0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0010765HP:0010765Palmar hyperkeratosis0TMPO CL E G H711211875ORPHA:154Familial isolated dilated cardiomyopathy136
HP:0010765HP:0010765Palmar hyperkeratosis0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndrome
HP:0010765HP:0010765Palmar hyperkeratosis0TNNC1 CL E G H713411943ORPHA:154Familial isolated dilated cardiomyopathy73
HP:0010765HP:0010765Palmar hyperkeratosis0TNNI3 CL E G H713711947ORPHA:154Familial isolated dilated cardiomyopathy180
HP:0010765HP:0010765Palmar hyperkeratosis0TNNT2 CL E G H713911949ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0010765HP:0010765Palmar hyperkeratosis0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0010765HP:0010765Palmar hyperkeratosis0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0010765HP:0010765Palmar hyperkeratosis0TPM1 CL E G H716812010ORPHA:154Familial isolated dilated cardiomyopathy230
HP:0010765HP:0010765Palmar hyperkeratosis0TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndrome27
HP:0010765HP:0010765Palmar hyperkeratosis0TRNS1 CL E G H45747497ORPHA:2202Palmoplantar keratoderma-deafness syndrome
HP:0010765HP:0010765Palmar hyperkeratosis0TRPM4 CL E G H5479517993ORPHA:316Progressive symmetric erythrokeratodermia124
HP:0010765HP:0010765Palmar hyperkeratosis0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques151
HP:0010765HP:0010765Palmar hyperkeratosis0TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques151
HP:0010765HP:0010765Palmar hyperkeratosis0TRPV3 CL E G H16251418084OMIM:616400Palmoplantar keratoderma, nonepidermolytic, focal 2151
HP:0010765HP:0010765Palmar hyperkeratosis0TTN CL E G H727312403ORPHA:154Familial isolated dilated cardiomyopathy7128
HP:0010765HP:0010765Palmar hyperkeratosis0TXNRD2 CL E G H1058718155ORPHA:154Familial isolated dilated cardiomyopathy85
HP:0010765HP:0010765Palmar hyperkeratosis0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0010765HP:0010765Palmar hyperkeratosis0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0010765HP:0010765Palmar hyperkeratosis0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0010765HP:0010765Palmar hyperkeratosis0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0010765HP:0010765Palmar hyperkeratosis0VCL CL E G H741412665ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0010765HP:0010765Palmar hyperkeratosis0VPS33B CL E G H2627612712OMIM:62000963
HP:0010765HP:0010765Palmar hyperkeratosis0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0010765HP:0010765Palmar hyperkeratosis0WNT10A CL E G H8032613829ORPHA:50944Schöpf-Schulz-Passarge syndrome71
HP:0010765HP:0010765Palmar hyperkeratosis0WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome71
HP:0010765HP:0010765Palmar hyperkeratosis0WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0010765HP:0010765Palmar hyperkeratosis0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0010765HP:0010765Palmar hyperkeratosis0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0010765HP:0007508Punctate palmar hyperkeratosis1 CL E G H
HP:0010765HP:0000972Palmoplantar hyperkeratosis1AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0010765HP:0000972Palmoplantar hyperkeratosis1AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0010765HP:0000972Palmoplantar hyperkeratosis1AAGAB CL E G H7971925662OMIM:148600Palmoplantar keratoderma, punctate type IA7
HP:0010765HP:0000972Palmoplantar hyperkeratosis1AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040281 - Very frequent7
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythroderma130
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A130
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathy254
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathy208
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathy307
HP:0010765HP:0000972Palmoplantar hyperkeratosis1AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0010765HP:0000972Palmoplantar hyperkeratosis1AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythroderma75
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythroderma63
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 363
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathy95
HP:0010765HP:0000972Palmoplantar hyperkeratosis1AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0010765HP:0000972Palmoplantar hyperkeratosis1AQP5 CL E G H362638ORPHA:2337Non-epidermolytic palmoplantar keratoderma5
HP:0010765HP:0000972Palmoplantar hyperkeratosis1AQP5 CL E G H362638OMIM:600231PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB5
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ATP2A2 CL E G H488812OMIM:101900Acrokeratosis verruciformis86
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of Hopf86
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ATP2A2 CL E G H488812ORPHA:218Darier disease86
HP:0010765HP:0000972Palmoplantar hyperkeratosis1BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathy204
HP:0010765HP:0000972Palmoplantar hyperkeratosis1BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathy
HP:0010765HP:0000972Palmoplantar hyperkeratosis1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0010765HP:0000972Palmoplantar hyperkeratosis1CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathy
HP:0010765HP:0000972Palmoplantar hyperkeratosis1CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris33
HP:0010765HP:0000972Palmoplantar hyperkeratosis1CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilaris33
HP:0010765HP:0000972Palmoplantar hyperkeratosis1CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads4
HP:0010765HP:0000972Palmoplantar hyperkeratosis1CD28 CL E G H9401653ORPHA:3162Sézary syndrome
HP:0010765HP:0000972Palmoplantar hyperkeratosis1CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythroderma5
HP:0010765HP:0000972Palmoplantar hyperkeratosis1CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0010765HP:0000972Palmoplantar hyperkeratosis1COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeHP:0040282 - Frequent71
HP:0010765HP:0000972Palmoplantar hyperkeratosis1COG6 CL E G H5751118621OMIM:615328Shaheen syndrome.71
HP:0010765HP:0000972Palmoplantar hyperkeratosis1COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040281 - Very frequent2
HP:0010765HP:0000972Palmoplantar hyperkeratosis1COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0010765HP:0000972Palmoplantar hyperkeratosis1COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral form263
HP:0010765HP:0000972Palmoplantar hyperkeratosis1CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathy46
HP:0010765HP:0000972Palmoplantar hyperkeratosis1CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathy104
HP:0010765HP:0000972Palmoplantar hyperkeratosis1CSTA CL E G H14752481OMIM:607936Peeling skin syndrome 44
HP:0010765HP:0000972Palmoplantar hyperkeratosis1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0010765HP:0000972Palmoplantar hyperkeratosis1CTLA4 CL E G H14932505ORPHA:3162Sézary syndrome10
HP:0010765HP:0000972Palmoplantar hyperkeratosis1CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome50
HP:0010765HP:0000972Palmoplantar hyperkeratosis1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040281 - Very frequent50
HP:0010765HP:0000972Palmoplantar hyperkeratosis1CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome.50
HP:0010765HP:0000972Palmoplantar hyperkeratosis1CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 554
HP:0010765HP:0000972Palmoplantar hyperkeratosis1DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathy263
HP:0010765HP:0000972Palmoplantar hyperkeratosis1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0010765HP:0000972Palmoplantar hyperkeratosis1DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathy1496
HP:0010765HP:0000972Palmoplantar hyperkeratosis1DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathy55
HP:0010765HP:0000972Palmoplantar hyperkeratosis1DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11268
HP:0010765HP:0000972Palmoplantar hyperkeratosis1DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige16
HP:0010765HP:0000972Palmoplantar hyperkeratosis1DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0010765HP:0000972Palmoplantar hyperkeratosis1DSG1 CL E G H18283048ORPHA:50942Striate palmoplantar keratoderma16
HP:0010765HP:0000972Palmoplantar hyperkeratosis1DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathy358
HP:0010765HP:0000972Palmoplantar hyperkeratosis1DSP CL E G H18323052OMIM:605676Cardiomyopathy, dilated, with woolly hair and keratoderma747
HP:0010765HP:0000972Palmoplantar hyperkeratosis1DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis747
HP:0010765HP:0000972Palmoplantar hyperkeratosis1DSP CL E G H18323052ORPHA:65282Carvajal syndrome747
HP:0010765HP:0000972Palmoplantar hyperkeratosis1DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathy747
HP:0010765HP:0000972Palmoplantar hyperkeratosis1DSP CL E G H18323052OMIM:612908Keratosis palmoplantaris striata II747
HP:0010765HP:0000972Palmoplantar hyperkeratosis1DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome747
HP:0010765HP:0000972Palmoplantar hyperkeratosis1DSP CL E G H18323052ORPHA:50942Striate palmoplantar keratoderma747
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ENPP1 CL E G H51673356OMIM:615522Cole disease151
HP:0010765HP:0000972Palmoplantar hyperkeratosis1FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosa136
HP:0010765HP:0000972Palmoplantar hyperkeratosis1FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0010765HP:0000972Palmoplantar hyperkeratosis1FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0010765HP:0000972Palmoplantar hyperkeratosis1FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathy36
HP:0010765HP:0000972Palmoplantar hyperkeratosis1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0010765HP:0000972Palmoplantar hyperkeratosis1FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathy184
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathy35
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopeciaHP:0040281 - Very frequent68
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilis68
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJA1 CL E G H26974274OMIM:617525Erythrokeratodermia variabilis et progressiva 368
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilans199
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJB2 CL E G H27064284OMIM:148350Keratoderma, palmoplantar, with deafness.199
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJB2 CL E G H27064284OMIM:149200Knuckle pads, leukonychia, and sensorineural deafness199
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome199
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJB2 CL E G H27064284ORPHA:2202Palmoplantar keratoderma-deafness syndrome199
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJB2 CL E G H27064284OMIM:124500VOHWINKEL SYNDROME; VOWNKL199
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilis74
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 174
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilis12
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJB4 CL E G H1275344286OMIM:617524Erythrokeratodermia variabilis et progressiva 212
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0010765HP:0000972Palmoplantar hyperkeratosis1GMPPA CL E G H2992622923ORPHA:869Triple A syndrome24
HP:0010765HP:0000972Palmoplantar hyperkeratosis1HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathy2
HP:0010765HP:0000972Palmoplantar hyperkeratosis1HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 1.55
HP:0010765HP:0000972Palmoplantar hyperkeratosis1HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0010765HP:0000972Palmoplantar hyperkeratosis1ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0010765HP:0000972Palmoplantar hyperkeratosis1JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0010765HP:0000972Palmoplantar hyperkeratosis1JUP CL E G H37286207ORPHA:34217Naxos disease222
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair1
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilis4
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KDSR CL E G H25314021OMIM:617526Erythrokeratodermia variabilis et progressiva 4.4
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KDSR CL E G H25314021ORPHA:316Progressive symmetric erythrokeratodermia4
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosis100
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT1 CL E G H38486412OMIM:113800Epidermolytic hyperkeratosis.100
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:79503Ichthyosis hystrix of Curth-Macklin100
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT1 CL E G H38486412OMIM:607654KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3100
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratoderma100
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT1 CL E G H38486412OMIM:144200Palmoplantar keratoderma, epidermolytic.100
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT1 CL E G H38486412OMIM:600962PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK100
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:50942Striate palmoplantar keratoderma100
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosis45
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT10 CL E G H38586413OMIM:113800Epidermolytic hyperkeratosis.45
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular.45
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT10 CL E G H38586413OMIM:607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis.45
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040282 - Frequent110
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis.110
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type.110
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT14 CL E G H38616416OMIM:131900Epidermolysis bullosa simplex, Koebner type110
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplex110
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT14 CL E G H38616416OMIM:161000Naegeli syndrome110
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT16 CL E G H38686423ORPHA:2199Epidermolytic palmoplantar keratoderma27
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenita27
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT16 CL E G H38686423OMIM:167200Pachyonychia congenita, type 1.27
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT16 CL E G H38686423OMIM:613000Palmoplantar keratoderma, nonepidermolytic, focal 127
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenita23
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 2.23
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT2 CL E G H38496439ORPHA:455Superficial epidermolytic ichthyosis67
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT5 CL E G H38526442OMIM:619555EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A173
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type.173
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplex173
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenita41
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 341
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenita4
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT6B CL E G H38546444OMIM:615728Pachyonychia congenita 44
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT6C CL E G H28688720406OMIM:615735Palmoplantar keratoderma, nonepidermolytic, focal or diffuse4
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT83 CL E G H38896460OMIM:617756Erythrokeratodermia variabilis et progressiva 5.65
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT83 CL E G H38896460ORPHA:316Progressive symmetric erythrokeratodermia65
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT9 CL E G H38576447ORPHA:2199Epidermolytic palmoplantar keratoderma66
HP:0010765HP:0000972Palmoplantar hyperkeratosis1KRT9 CL E G H38576447OMIM:144200Palmoplantar keratoderma, epidermolytic.66
HP:0010765HP:0000972Palmoplantar hyperkeratosis1LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:0010765HP:0000972Palmoplantar hyperkeratosis1LAMA4 CL E G H39106484ORPHA:154Familial isolated dilated cardiomyopathy279
HP:0010765HP:0000972Palmoplantar hyperkeratosis1LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:0010765HP:0000972Palmoplantar hyperkeratosis1LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:0010765HP:0000972Palmoplantar hyperkeratosis1LDB3 CL E G H1115515710ORPHA:154Familial isolated dilated cardiomyopathy286
HP:0010765HP:0000972Palmoplantar hyperkeratosis1LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0010765HP:0000972Palmoplantar hyperkeratosis1LMNA CL E G H40006636ORPHA:154Familial isolated dilated cardiomyopathy645
HP:0010765HP:0000972Palmoplantar hyperkeratosis1LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosis
HP:0010765HP:0000972Palmoplantar hyperkeratosis1LORICRIN CL E G H40146663ORPHA:316Progressive symmetric erythrokeratodermia
HP:0010765HP:0000972Palmoplantar hyperkeratosis1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0010765HP:0000972Palmoplantar hyperkeratosis1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0010765HP:0000972Palmoplantar hyperkeratosis1MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0010765HP:0000972Palmoplantar hyperkeratosis1MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0010765HP:0000972Palmoplantar hyperkeratosis1MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques22
HP:0010765HP:0000972Palmoplantar hyperkeratosis1MBTPS2 CL E G H5136015455OMIM:300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked.22
HP:0010765HP:0000972Palmoplantar hyperkeratosis1MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IV78
HP:0010765HP:0000972Palmoplantar hyperkeratosis1MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0010765HP:0000972Palmoplantar hyperkeratosis1MYBPC3 CL E G H46077551ORPHA:154Familial isolated dilated cardiomyopathy1143
HP:0010765HP:0000972Palmoplantar hyperkeratosis1MYH6 CL E G H46247576ORPHA:154Familial isolated dilated cardiomyopathy452
HP:0010765HP:0000972Palmoplantar hyperkeratosis1MYH7 CL E G H46257577ORPHA:154Familial isolated dilated cardiomyopathy1269
HP:0010765HP:0000972Palmoplantar hyperkeratosis1MYPN CL E G H8466523246ORPHA:154Familial isolated dilated cardiomyopathy217
HP:0010765HP:0000972Palmoplantar hyperkeratosis1NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome.4
HP:0010765HP:0000972Palmoplantar hyperkeratosis1NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040283 - Occasional4
HP:0010765HP:0000972Palmoplantar hyperkeratosis1NEXN CL E G H9162429557ORPHA:154Familial isolated dilated cardiomyopathy167
HP:0010765HP:0000972Palmoplantar hyperkeratosis1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0010765HP:0000972Palmoplantar hyperkeratosis1NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 127
HP:0010765HP:0000972Palmoplantar hyperkeratosis1NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythroderma60
HP:0010765HP:0000972Palmoplantar hyperkeratosis1NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 660
HP:0010765HP:0000972Palmoplantar hyperkeratosis1NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0010765HP:0000972Palmoplantar hyperkeratosis1NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healing37
HP:0010765HP:0000972Palmoplantar hyperkeratosis1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0010765HP:0000972Palmoplantar hyperkeratosis1NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 117
HP:0010765HP:0000972Palmoplantar hyperkeratosis1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PEPD CL E G H51848840ORPHA:742Prolidase deficiency66
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PERP CL E G H6406517637OMIM:619209ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PERP CL E G H6406517637OMIM:619208OLMSTED SYNDROME 2; OLMS2
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5.162
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndrome107
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy.759
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PLEC CL E G H53399069ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement759
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PLN CL E G H53509080ORPHA:154Familial isolated dilated cardiomyopathy57
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythroderma47
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 1047
HP:0010765HP:0000972Palmoplantar hyperkeratosis1POMP CL E G H5137120330OMIM:601952Keratosis linearis with ichthyosis congenita and sclerosing keratoderma2
HP:0010765HP:0000972Palmoplantar hyperkeratosis1POMP CL E G H5137120330ORPHA:281201Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome2
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PPCS CL E G H7971725686ORPHA:154Familial isolated dilated cardiomyopathy
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PRDM16 CL E G H6397614000ORPHA:154Familial isolated dilated cardiomyopathy148
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PSEN1 CL E G H56639508ORPHA:154Familial isolated dilated cardiomyopathy241
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PSEN2 CL E G H56649509ORPHA:154Familial isolated dilated cardiomyopathy59
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0010765HP:0000972Palmoplantar hyperkeratosis1PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0010765HP:0000972Palmoplantar hyperkeratosis1RAF1 CL E G H58949829ORPHA:154Familial isolated dilated cardiomyopathy212
HP:0010765HP:0000972Palmoplantar hyperkeratosis1RBM20 CL E G H28299627424ORPHA:154Familial isolated dilated cardiomyopathy363
HP:0010765HP:0000972Palmoplantar hyperkeratosis1RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndrome80
HP:0010765HP:0000972Palmoplantar hyperkeratosis1RHBDF2 CL E G H7965120788OMIM:148500Tylosis with esophageal cancer80
HP:0010765HP:0000972Palmoplantar hyperkeratosis1RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0010765HP:0000972Palmoplantar hyperkeratosis1RSPO1 CL E G H28465421679ORPHA:85112Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome3
HP:0010765HP:0000972Palmoplantar hyperkeratosis1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SASH1 CL E G H2332819182OMIM:618373Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma1
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SCN5A CL E G H633110593ORPHA:154Familial isolated dilated cardiomyopathy1134
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SDHA CL E G H638910680ORPHA:154Familial isolated dilated cardiomyopathy304
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SDR9C7 CL E G H12121429958OMIM:617574Ichthyosis, congenital, autosomal recessive 13.2
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SERPINA12 CL E G H14526418359ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SERPINB7 CL E G H871013902ORPHA:140966Palmoplantar keratoderma, Nagashima type4
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SGCD CL E G H644410807ORPHA:154Familial isolated dilated cardiomyopathy223
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SLCO2A1 CL E G H657810955ORPHA:2796Pachydermoperiostosis13
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SLURP1 CL E G H5715218746ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen type15
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SLURP1 CL E G H5715218746ORPHA:87503Mal de Meleda15
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SLURP1 CL E G H5715218746OMIM:248300Meleda disease15
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SMARCAD1 CL E G H5691618398OMIM:181600Huriez syndrome6
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SMARCAD1 CL E G H5691618398ORPHA:384Huriez syndrome6
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndrome94
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0010765HP:0000972Palmoplantar hyperkeratosis1SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDG80
HP:0010765HP:0000972Palmoplantar hyperkeratosis1STS CL E G H41211425OMIM:308100Ichthyosis, X-linked19
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TAF1A CL E G H901511532ORPHA:154Familial isolated dilated cardiomyopathy
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TAFAZZIN CL E G H690111577ORPHA:154Familial isolated dilated cardiomyopathy
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TAT CL E G H689811573ORPHA:28378Tyrosinemia type 243
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TCAP CL E G H855711610ORPHA:154Familial isolated dilated cardiomyopathy78
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2.238
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosisHP:0040283 - Occasional98
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythroderma98
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 1HP:0040283 - Occasional98
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TMPO CL E G H711211875ORPHA:154Familial isolated dilated cardiomyopathy136
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndrome
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TNNC1 CL E G H713411943ORPHA:154Familial isolated dilated cardiomyopathy73
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TNNI3 CL E G H713711947ORPHA:154Familial isolated dilated cardiomyopathy180
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TNNT2 CL E G H713911949ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TPM1 CL E G H716812010ORPHA:154Familial isolated dilated cardiomyopathy230
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndrome27
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TRNS1 CL E G H45747497ORPHA:2202Palmoplantar keratoderma-deafness syndrome
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TRPM4 CL E G H5479517993ORPHA:316Progressive symmetric erythrokeratodermia124
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques151
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques151
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TRPV3 CL E G H16251418084OMIM:616400Palmoplantar keratoderma, nonepidermolytic, focal 2151
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TTN CL E G H727312403ORPHA:154Familial isolated dilated cardiomyopathy7128
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TXNRD2 CL E G H1058718155ORPHA:154Familial isolated dilated cardiomyopathy85
HP:0010765HP:0000972Palmoplantar hyperkeratosis1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0010765HP:0000972Palmoplantar hyperkeratosis1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0010765HP:0000972Palmoplantar hyperkeratosis1USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0010765HP:0000972Palmoplantar hyperkeratosis1USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0010765HP:0000972Palmoplantar hyperkeratosis1VCL CL E G H741412665ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0010765HP:0000972Palmoplantar hyperkeratosis1VPS33B CL E G H2627612712OMIM:62000963
HP:0010765HP:0000972Palmoplantar hyperkeratosis1WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0010765HP:0000972Palmoplantar hyperkeratosis1WNT10A CL E G H8032613829ORPHA:50944Schöpf-Schulz-Passarge syndrome71
HP:0010765HP:0000972Palmoplantar hyperkeratosis1WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome71
HP:0010765HP:0000972Palmoplantar hyperkeratosis1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0010765HP:0007613Spinous keratoses of palms and soles2 CL E G H
HP:0010765HP:0000982Palmoplantar keratoderma2AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040282 - Frequent57
HP:0010765HP:0007530Punctate palmoplantar hyperkeratosis2AAGAB CL E G H7971925662OMIM:148600Palmoplantar keratoderma, punctate type IA7
HP:0010765HP:0000982Palmoplantar keratoderma2AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040281 - Very frequent7
HP:0010765HP:0000982Palmoplantar keratoderma2ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent130
HP:0010765HP:0000982Palmoplantar keratoderma2ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A.130
HP:0010765HP:0000982Palmoplantar keratoderma2ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional254
HP:0010765HP:0000982Palmoplantar keratoderma2ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional208
HP:0010765HP:0000982Palmoplantar keratoderma2ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional307
HP:0010765HP:0000982Palmoplantar keratoderma2AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040281 - Very frequent54
HP:0010765HP:0000982Palmoplantar keratoderma2ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent75
HP:0010765HP:0000982Palmoplantar keratoderma2ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2.75
HP:0010765HP:0000982Palmoplantar keratoderma2ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent63
HP:0010765HP:0000982Palmoplantar keratoderma2ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2.63
HP:0010765HP:0000982Palmoplantar keratoderma2ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 3HP:0040283 - Occasional63
HP:0010765HP:0000982Palmoplantar keratoderma2ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional95
HP:0010765HP:0000982Palmoplantar keratoderma2AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2AQP5 CL E G H362638ORPHA:2337Non-epidermolytic palmoplantar keratodermaHP:0040281 - Very frequent5
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2AQP5 CL E G H362638OMIM:600231PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB5
HP:0010765HP:0007530Punctate palmoplantar hyperkeratosis2ATP2A2 CL E G H488812OMIM:101900Acrokeratosis verruciformis86
HP:0010765HP:0007530Punctate palmoplantar hyperkeratosis2ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of HopfHP:0040282 - Frequent86
HP:0010765HP:0000982Palmoplantar keratoderma2ATP2A2 CL E G H488812ORPHA:218Darier diseaseHP:0040282 - Frequent86
HP:0010765HP:0000982Palmoplantar keratoderma2BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional204
HP:0010765HP:0000982Palmoplantar keratoderma2BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0010765HP:0000982Palmoplantar keratoderma2BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent276
HP:0010765HP:0000982Palmoplantar keratoderma2CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0010765HP:0000982Palmoplantar keratoderma2CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilarisHP:0040281 - Very frequent33
HP:0010765HP:0000982Palmoplantar keratoderma2CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris33
HP:0010765HP:0000982Palmoplantar keratoderma2CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.4
HP:0010765HP:0000982Palmoplantar keratoderma2CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040282 - Frequent
HP:0010765HP:0000982Palmoplantar keratoderma2CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent5
HP:0010765HP:0000982Palmoplantar keratoderma2CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratodermaHP:0040281 - Very frequent1371
HP:0010765HP:0000982Palmoplantar keratoderma2COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040281 - Very frequent2
HP:0010765HP:0000982Palmoplantar keratoderma2COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0010765HP:0000982Palmoplantar keratoderma2CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional46
HP:0010765HP:0000982Palmoplantar keratoderma2CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional104
HP:0010765HP:0000982Palmoplantar keratoderma2CSTA CL E G H14752481OMIM:607936Peeling skin syndrome 4.4
HP:0010765HP:0000982Palmoplantar keratoderma2CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0010765HP:0000982Palmoplantar keratoderma2CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040282 - Frequent10
HP:0010765HP:0007545Congenital palmoplantar hyperkeratosis2CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome.50
HP:0010765HP:0000982Palmoplantar keratoderma2CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040281 - Very frequent50
HP:0010765HP:0000982Palmoplantar keratoderma2CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 5HP:0040283 - Occasional54
HP:0010765HP:0000982Palmoplantar keratoderma2DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional263
HP:0010765HP:0000982Palmoplantar keratoderma2DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0010765HP:0000982Palmoplantar keratoderma2DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1496
HP:0010765HP:0000982Palmoplantar keratoderma2DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional55
HP:0010765HP:0000982Palmoplantar keratoderma2DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11.268
HP:0010765HP:0000982Palmoplantar keratoderma2DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige.16
HP:0010765HP:0000982Palmoplantar keratoderma2DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0010765HP:0000982Palmoplantar keratoderma2DSG1 CL E G H18283048ORPHA:50942Striate palmoplantar keratodermaHP:0040281 - Very frequent16
HP:0010765HP:0000982Palmoplantar keratoderma2DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional358
HP:0010765HP:0000982Palmoplantar keratoderma2DSP CL E G H18323052OMIM:605676Cardiomyopathy, dilated, with woolly hair and keratoderma747
HP:0010765HP:0000982Palmoplantar keratoderma2DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis.747
HP:0010765HP:0005588Patchy palmoplantar hyperkeratosis2DSP CL E G H18323052ORPHA:65282Carvajal syndromeHP:0040281 - Very frequent747
HP:0010765HP:0000982Palmoplantar keratoderma2DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional747
HP:0010765HP:0000982Palmoplantar keratoderma2DSP CL E G H18323052OMIM:612908Keratosis palmoplantaris striata II.747
HP:0010765HP:0000982Palmoplantar keratoderma2DSP CL E G H18323052ORPHA:50942Striate palmoplantar keratodermaHP:0040281 - Very frequent747
HP:0010765HP:0007530Punctate palmoplantar hyperkeratosis2ENPP1 CL E G H51673356OMIM:615522Cole disease151
HP:0010765HP:0000982Palmoplantar keratoderma2ENPP1 CL E G H51673356OMIM:615522Cole disease.151
HP:0010765HP:0000982Palmoplantar keratoderma2FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040281 - Very frequent136
HP:0010765HP:0000982Palmoplantar keratoderma2FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040281 - Very frequent175
HP:0010765HP:0000982Palmoplantar keratoderma2FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional36
HP:0010765HP:0000982Palmoplantar keratoderma2FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional184
HP:0010765HP:0000982Palmoplantar keratoderma2GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional35
HP:0010765HP:0000982Palmoplantar keratoderma2GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopeciaHP:0040281 - Very frequent68
HP:0010765HP:0005588Patchy palmoplantar hyperkeratosis2GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent68
HP:0010765HP:0000982Palmoplantar keratoderma2GJA1 CL E G H26974274OMIM:617525Erythrokeratodermia variabilis et progressiva 3.68
HP:0010765HP:0000982Palmoplantar keratoderma2GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040283 - Occasional68
HP:0010765HP:0000982Palmoplantar keratoderma2GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0010765HP:0000982Palmoplantar keratoderma2GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0010765HP:0007465Honeycomb palmoplantar hyperkeratosis2GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilansHP:0040281 - Very frequent199
HP:0010765HP:0000982Palmoplantar keratoderma2GJB2 CL E G H27064284ORPHA:477KID syndromeHP:0040282 - Frequent199
HP:0010765HP:0000982Palmoplantar keratoderma2GJB2 CL E G H27064284OMIM:149200Knuckle pads, leukonychia, and sensorineural deafness199
HP:0010765HP:0000982Palmoplantar keratoderma2GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndromeHP:0040282 - Frequent199
HP:0010765HP:0000982Palmoplantar keratoderma2GJB2 CL E G H27064284ORPHA:2202Palmoplantar keratoderma-deafness syndromeHP:0040281 - Very frequent199
HP:0010765HP:0007465Honeycomb palmoplantar hyperkeratosis2GJB2 CL E G H27064284OMIM:124500VOHWINKEL SYNDROME; VOWNKL199
HP:0010765HP:0005588Patchy palmoplantar hyperkeratosis2GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent74
HP:0010765HP:0005588Patchy palmoplantar hyperkeratosis2GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 1.74
HP:0010765HP:0005588Patchy palmoplantar hyperkeratosis2GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent12
HP:0010765HP:0000982Palmoplantar keratoderma2GJB4 CL E G H1275344286OMIM:617524Erythrokeratodermia variabilis et progressiva 2.12
HP:0010765HP:0000982Palmoplantar keratoderma2GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasiaHP:0040282 - Frequent56
HP:0010765HP:0000982Palmoplantar keratoderma2GJB6 CL E G H108044288ORPHA:477KID syndromeHP:0040282 - Frequent56
HP:0010765HP:0000982Palmoplantar keratoderma2GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040282 - Frequent24
HP:0010765HP:0000982Palmoplantar keratoderma2HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional2
HP:0010765HP:0000982Palmoplantar keratoderma2HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional55
HP:0010765HP:0000982Palmoplantar keratoderma2ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional124
HP:0010765HP:0000982Palmoplantar keratoderma2JUP CL E G H37286207OMIM:601214Naxos disease.222
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0010765HP:0000982Palmoplantar keratoderma2JUP CL E G H37286207ORPHA:34217Naxos diseaseHP:0040281 - Very frequent222
HP:0010765HP:0000982Palmoplantar keratoderma2KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair.1
HP:0010765HP:0005588Patchy palmoplantar hyperkeratosis2KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent4
HP:0010765HP:0000982Palmoplantar keratoderma2KDSR CL E G H25314021ORPHA:316Progressive symmetric erythrokeratodermiaHP:0040281 - Very frequent4
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0010765HP:0000982Palmoplantar keratoderma2KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040281 - Very frequent1
HP:0010765HP:0000982Palmoplantar keratoderma2KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent196
HP:0010765HP:0000982Palmoplantar keratoderma2KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040283 - Occasional100
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2KRT1 CL E G H38486412ORPHA:79503Ichthyosis hystrix of Curth-MacklinHP:0040281 - Very frequent100
HP:0010765HP:0000982Palmoplantar keratoderma2KRT1 CL E G H38486412OMIM:607654KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3100
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratodermaHP:0040281 - Very frequent100
HP:0010765HP:0007404Nonepidermolytic palmoplantar hyperkeratosis2KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratodermaHP:0040280 - Obligate100
HP:0010765HP:0007404Nonepidermolytic palmoplantar hyperkeratosis2KRT1 CL E G H38486412OMIM:600962PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK100
HP:0010765HP:0000982Palmoplantar keratoderma2KRT1 CL E G H38486412ORPHA:50942Striate palmoplantar keratodermaHP:0040281 - Very frequent100
HP:0010765HP:0000982Palmoplantar keratoderma2KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040283 - Occasional45
HP:0010765HP:0000982Palmoplantar keratoderma2KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040281 - Very frequent110
HP:0010765HP:0007497Focal friction-related palmoplantar hyperkeratosis2KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplexHP:0040281 - Very frequent110
HP:0010765HP:0000982Palmoplantar keratoderma2KRT14 CL E G H38616416OMIM:161000Naegeli syndrome.110
HP:0010765HP:0007530Punctate palmoplantar hyperkeratosis2KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2KRT16 CL E G H38686423ORPHA:2199Epidermolytic palmoplantar keratoderma27
HP:0010765HP:0000982Palmoplantar keratoderma2KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent27
HP:0010765HP:0000982Palmoplantar keratoderma2KRT16 CL E G H38686423OMIM:613000Palmoplantar keratoderma, nonepidermolytic, focal 1.27
HP:0010765HP:0000982Palmoplantar keratoderma2KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent23
HP:0010765HP:0000982Palmoplantar keratoderma2KRT2 CL E G H38496439ORPHA:455Superficial epidermolytic ichthyosisHP:0040281 - Very frequent67
HP:0010765HP:0000982Palmoplantar keratoderma2KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040281 - Very frequent173
HP:0010765HP:0007530Punctate palmoplantar hyperkeratosis2KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation.173
HP:0010765HP:0007497Focal friction-related palmoplantar hyperkeratosis2KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplexHP:0040281 - Very frequent173
HP:0010765HP:0000982Palmoplantar keratoderma2KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent41
HP:0010765HP:0000982Palmoplantar keratoderma2KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 3.41
HP:0010765HP:0000982Palmoplantar keratoderma2KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent4
HP:0010765HP:0000982Palmoplantar keratoderma2KRT6B CL E G H38546444OMIM:615728Pachyonychia congenita 4.4
HP:0010765HP:0000982Palmoplantar keratoderma2KRT6C CL E G H28688720406OMIM:615735Palmoplantar keratoderma, nonepidermolytic, focal or diffuse.4
HP:0010765HP:0000982Palmoplantar keratoderma2KRT83 CL E G H38896460ORPHA:316Progressive symmetric erythrokeratodermiaHP:0040281 - Very frequent65
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2KRT9 CL E G H38576447ORPHA:2199Epidermolytic palmoplantar keratoderma66
HP:0010765HP:0000982Palmoplantar keratoderma2LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0010765HP:0000982Palmoplantar keratoderma2LAMA4 CL E G H39106484ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional279
HP:0010765HP:0000982Palmoplantar keratoderma2LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0010765HP:0000982Palmoplantar keratoderma2LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0010765HP:0000982Palmoplantar keratoderma2LDB3 CL E G H1115515710ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional286
HP:0010765HP:0000982Palmoplantar keratoderma2LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndromeHP:0040283 - Occasional68
HP:0010765HP:0000982Palmoplantar keratoderma2LMNA CL E G H40006636ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional645
HP:0010765HP:0007465Honeycomb palmoplantar hyperkeratosis2LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosisHP:0040281 - Very frequent
HP:0010765HP:0000982Palmoplantar keratoderma2LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosis
HP:0010765HP:0000982Palmoplantar keratoderma2LORICRIN CL E G H40146663ORPHA:316Progressive symmetric erythrokeratodermiaHP:0040281 - Very frequent
HP:0010765HP:0000982Palmoplantar keratoderma2MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent134
HP:0010765HP:0000982Palmoplantar keratoderma2MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent178
HP:0010765HP:0000982Palmoplantar keratoderma2MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0010765HP:0000982Palmoplantar keratoderma2MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent22
HP:0010765HP:0000982Palmoplantar keratoderma2MBTPS2 CL E G H5136015455OMIM:300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked.22
HP:0010765HP:0000982Palmoplantar keratoderma2MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IVHP:0040283 - Occasional78
HP:0010765HP:0000982Palmoplantar keratoderma2MYBPC3 CL E G H46077551ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1143
HP:0010765HP:0000982Palmoplantar keratoderma2MYH6 CL E G H46247576ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional452
HP:0010765HP:0000982Palmoplantar keratoderma2MYH7 CL E G H46257577ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1269
HP:0010765HP:0000982Palmoplantar keratoderma2MYPN CL E G H8466523246ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional217
HP:0010765HP:0000982Palmoplantar keratoderma2NEXN CL E G H9162429557ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional167
HP:0010765HP:0000982Palmoplantar keratoderma2NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional27
HP:0010765HP:0000982Palmoplantar keratoderma2NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent60
HP:0010765HP:0000982Palmoplantar keratoderma2NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 6.60
HP:0010765HP:0000982Palmoplantar keratoderma2NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healing.37
HP:0010765HP:0000982Palmoplantar keratoderma2NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional17
HP:0010765HP:0000982Palmoplantar keratoderma2NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional12
HP:0010765HP:0000982Palmoplantar keratoderma2PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional26
HP:0010765HP:0000982Palmoplantar keratoderma2PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040281 - Very frequent66
HP:0010765HP:0000982Palmoplantar keratoderma2PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent
HP:0010765HP:0000982Palmoplantar keratoderma2PERP CL E G H6406517637OMIM:619208OLMSTED SYNDROME 2; OLMS2
HP:0010765HP:0000982Palmoplantar keratoderma2PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040281 - Very frequent162
HP:0010765HP:0000982Palmoplantar keratoderma2PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040281 - Very frequent107
HP:0010765HP:0000982Palmoplantar keratoderma2PLEC CL E G H53399069ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvementHP:0040282 - Frequent759
HP:0010765HP:0000982Palmoplantar keratoderma2PLN CL E G H53509080ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional57
HP:0010765HP:0000982Palmoplantar keratoderma2PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent47
HP:0010765HP:0000982Palmoplantar keratoderma2PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 10.47
HP:0010765HP:0007465Honeycomb palmoplantar hyperkeratosis2POMP CL E G H5137120330OMIM:601952Keratosis linearis with ichthyosis congenita and sclerosing keratoderma.2
HP:0010765HP:0000982Palmoplantar keratoderma2POMP CL E G H5137120330ORPHA:281201Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndromeHP:0040281 - Very frequent2
HP:0010765HP:0000982Palmoplantar keratoderma2PPCS CL E G H7971725686ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0010765HP:0000982Palmoplantar keratoderma2PRDM16 CL E G H6397614000ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional148
HP:0010765HP:0000982Palmoplantar keratoderma2PSEN1 CL E G H56639508ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional241
HP:0010765HP:0000982Palmoplantar keratoderma2PSEN2 CL E G H56649509ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional59
HP:0010765HP:0000982Palmoplantar keratoderma2PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040281 - Very frequent948
HP:0010765HP:0000982Palmoplantar keratoderma2RAF1 CL E G H58949829ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional212
HP:0010765HP:0000982Palmoplantar keratoderma2RBM20 CL E G H28299627424ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional363
HP:0010765HP:0000982Palmoplantar keratoderma2RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndromeHP:0040281 - Very frequent80
HP:0010765HP:0007447Diffuse palmoplantar hyperkeratosis2RHBDF2 CL E G H7965120788OMIM:148500Tylosis with esophageal cancer.80
HP:0010765HP:0000982Palmoplantar keratoderma2RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal.3
HP:0010765HP:0000982Palmoplantar keratoderma2RSPO1 CL E G H28465421679ORPHA:85112Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndromeHP:0040281 - Very frequent3
HP:0010765HP:0000982Palmoplantar keratoderma2RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional77
HP:0010765HP:0000982Palmoplantar keratoderma2SASH1 CL E G H2332819182