Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the plantar skin of foot (HP:0100872)help
Grandparent Node:
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Hyperkeratosis (HP:0000962)help
Parent Node:
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Palmar hyperkeratosis (HP:0010765)help
Parent Node:
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Plantar hyperkeratosis (HP:0007556)help
..Starting node
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Palmoplantar hyperkeratosis (HP:0000972)help
Term ID: 972
Name: Palmoplantar hyperkeratosis
Synonym: Hyperkeratosis of palms and soles; Hyperkeratosis of the palms and soles; Palmoplantar keratoses; Palmoplantar keratosis; Thick palms and soles; Thickened palms and soles; Thickening of the outer layer of the skin of the palms and soles
Definition: Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
Comments:
Reference: HP:0000972
Genes and Diseases:
 
       Child Nodes:
........expandDiffuse palmoplantar hyperkeratosis (HP:0007447) help
........expandFocal friction-related palmoplantar hyperkeratosis (HP:0007497) help
........expandPunctate palmoplantar hyperkeratosis (HP:0007530) help
........expandCongenital palmoplantar keratosis (HP:0007545) help
........expandPalmoplantar keratosis with erythema and scale (HP:0007548) help
........expandCongenital symmetrical palmoplantar keratosis (HP:0007553) help
........expandSpinous keratoses of palms and soles (HP:0007613) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000972HP:0000972Palmoplantar hyperkeratosis0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0000972HP:0000972Palmoplantar hyperkeratosis0AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0000972HP:0000972Palmoplantar hyperkeratosis0AAGAB CL E G H7971925662OMIM:148600Palmoplantar keratoderma, punctate type IA7
HP:0000972HP:0000972Palmoplantar hyperkeratosis0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040281 - Very frequent7
HP:0000972HP:0000972Palmoplantar hyperkeratosis0ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythroderma130
HP:0000972HP:0000972Palmoplantar hyperkeratosis0ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A130
HP:0000972HP:0000972Palmoplantar hyperkeratosis0ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathy254
HP:0000972HP:0000972Palmoplantar hyperkeratosis0ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathy208
HP:0000972HP:0000972Palmoplantar hyperkeratosis0ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathy307
HP:0000972HP:0000972Palmoplantar hyperkeratosis0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0000972HP:0000972Palmoplantar hyperkeratosis0AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0000972HP:0000972Palmoplantar hyperkeratosis0ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythroderma75
HP:0000972HP:0000972Palmoplantar hyperkeratosis0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0000972HP:0000972Palmoplantar hyperkeratosis0ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythroderma63
HP:0000972HP:0000972Palmoplantar hyperkeratosis0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0000972HP:0000972Palmoplantar hyperkeratosis0ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 363
HP:0000972HP:0000972Palmoplantar hyperkeratosis0ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathy95
HP:0000972HP:0000972Palmoplantar hyperkeratosis0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000972HP:0000972Palmoplantar hyperkeratosis0AQP5 CL E G H362638ORPHA:2337Non-epidermolytic palmoplantar keratoderma5
HP:0000972HP:0000972Palmoplantar hyperkeratosis0AQP5 CL E G H362638OMIM:600231PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB5
HP:0000972HP:0000972Palmoplantar hyperkeratosis0ATP2A2 CL E G H488812OMIM:101900Acrokeratosis verruciformis86
HP:0000972HP:0000972Palmoplantar hyperkeratosis0ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of Hopf86
HP:0000972HP:0000972Palmoplantar hyperkeratosis0ATP2A2 CL E G H488812ORPHA:218Darier disease86
HP:0000972HP:0000972Palmoplantar hyperkeratosis0BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathy204
HP:0000972HP:0000972Palmoplantar hyperkeratosis0BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathy
HP:0000972HP:0000972Palmoplantar hyperkeratosis0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathy
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris33
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilaris33
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads4
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CD28 CL E G H9401653ORPHA:3162Sézary syndrome
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythroderma5
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0000972HP:0000972Palmoplantar hyperkeratosis0COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndromeHP:0040282 - Frequent71
HP:0000972HP:0000972Palmoplantar hyperkeratosis0COG6 CL E G H5751118621OMIM:615328Shaheen syndrome.71
HP:0000972HP:0000972Palmoplantar hyperkeratosis0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040281 - Very frequent2
HP:0000972HP:0000972Palmoplantar hyperkeratosis0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0000972HP:0000972Palmoplantar hyperkeratosis0COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral form263
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathy46
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathy104
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CSTA CL E G H14752481OMIM:607936Peeling skin syndrome 44
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CTLA4 CL E G H14932505ORPHA:3162Sézary syndrome10
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome50
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040281 - Very frequent50
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome.50
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 554
HP:0000972HP:0000972Palmoplantar hyperkeratosis0DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathy263
HP:0000972HP:0000972Palmoplantar hyperkeratosis0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0000972HP:0000972Palmoplantar hyperkeratosis0DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathy1496
HP:0000972HP:0000972Palmoplantar hyperkeratosis0DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathy55
HP:0000972HP:0000972Palmoplantar hyperkeratosis0DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11268
HP:0000972HP:0000972Palmoplantar hyperkeratosis0DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige16
HP:0000972HP:0000972Palmoplantar hyperkeratosis0DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0000972HP:0000972Palmoplantar hyperkeratosis0DSG1 CL E G H18283048ORPHA:50942Striate palmoplantar keratoderma16
HP:0000972HP:0000972Palmoplantar hyperkeratosis0DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathy358
HP:0000972HP:0000972Palmoplantar hyperkeratosis0DSP CL E G H18323052OMIM:605676Cardiomyopathy, dilated, with woolly hair and keratoderma747
HP:0000972HP:0000972Palmoplantar hyperkeratosis0DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis747
HP:0000972HP:0000972Palmoplantar hyperkeratosis0DSP CL E G H18323052ORPHA:65282Carvajal syndrome747
HP:0000972HP:0000972Palmoplantar hyperkeratosis0DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathy747
HP:0000972HP:0000972Palmoplantar hyperkeratosis0DSP CL E G H18323052OMIM:612908Keratosis palmoplantaris striata II747
HP:0000972HP:0000972Palmoplantar hyperkeratosis0DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome747
HP:0000972HP:0000972Palmoplantar hyperkeratosis0DSP CL E G H18323052ORPHA:50942Striate palmoplantar keratoderma747
HP:0000972HP:0000972Palmoplantar hyperkeratosis0ENPP1 CL E G H51673356OMIM:615522Cole disease151
HP:0000972HP:0000972Palmoplantar hyperkeratosis0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosa136
HP:0000972HP:0000972Palmoplantar hyperkeratosis0FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0000972HP:0000972Palmoplantar hyperkeratosis0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0000972HP:0000972Palmoplantar hyperkeratosis0FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathy36
HP:0000972HP:0000972Palmoplantar hyperkeratosis0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000972HP:0000972Palmoplantar hyperkeratosis0FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathy184
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathy35
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopeciaHP:0040281 - Very frequent68
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilis68
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJA1 CL E G H26974274OMIM:617525Erythrokeratodermia variabilis et progressiva 368
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilans199
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJB2 CL E G H27064284OMIM:148350Keratoderma, palmoplantar, with deafness.199
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJB2 CL E G H27064284OMIM:149200Knuckle pads, leukonychia, and sensorineural deafness199
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome199
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJB2 CL E G H27064284ORPHA:2202Palmoplantar keratoderma-deafness syndrome199
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJB2 CL E G H27064284OMIM:124500VOHWINKEL SYNDROME; VOWNKL199
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilis74
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 174
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilis12
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJB4 CL E G H1275344286OMIM:617524Erythrokeratodermia variabilis et progressiva 212
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GMPPA CL E G H2992622923ORPHA:869Triple A syndrome24
HP:0000972HP:0000972Palmoplantar hyperkeratosis0HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathy2
HP:0000972HP:0000972Palmoplantar hyperkeratosis0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 1.55
HP:0000972HP:0000972Palmoplantar hyperkeratosis0HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0000972HP:0000972Palmoplantar hyperkeratosis0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0000972HP:0000972Palmoplantar hyperkeratosis0JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0000972HP:0000972Palmoplantar hyperkeratosis0JUP CL E G H37286207ORPHA:34217Naxos disease222
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair1
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilis4
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KDSR CL E G H25314021OMIM:617526Erythrokeratodermia variabilis et progressiva 4.4
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KDSR CL E G H25314021ORPHA:316Progressive symmetric erythrokeratodermia4
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosis100
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT1 CL E G H38486412OMIM:113800Epidermolytic hyperkeratosis.100
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT1 CL E G H38486412ORPHA:79503Ichthyosis hystrix of Curth-Macklin100
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT1 CL E G H38486412OMIM:607654KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3100
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratoderma100
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT1 CL E G H38486412OMIM:144200Palmoplantar keratoderma, epidermolytic.100
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT1 CL E G H38486412OMIM:600962PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK100
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT1 CL E G H38486412ORPHA:50942Striate palmoplantar keratoderma100
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosis45
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT10 CL E G H38586413OMIM:113800Epidermolytic hyperkeratosis.45
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular.45
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT10 CL E G H38586413OMIM:607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis.45
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040282 - Frequent110
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis.110
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type.110
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT14 CL E G H38616416OMIM:131900Epidermolysis bullosa simplex, Koebner type110
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplex110
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT14 CL E G H38616416OMIM:161000Naegeli syndrome110
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT16 CL E G H38686423ORPHA:2199Epidermolytic palmoplantar keratoderma27
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenita27
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT16 CL E G H38686423OMIM:167200Pachyonychia congenita, type 1.27
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT16 CL E G H38686423OMIM:613000Palmoplantar keratoderma, nonepidermolytic, focal 127
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenita23
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 2.23
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT2 CL E G H38496439ORPHA:455Superficial epidermolytic ichthyosis67
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT5 CL E G H38526442OMIM:619555EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A173
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type.173
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplex173
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenita41
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 341
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenita4
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT6B CL E G H38546444OMIM:615728Pachyonychia congenita 44
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT6C CL E G H28688720406OMIM:615735Palmoplantar keratoderma, nonepidermolytic, focal or diffuse4
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT83 CL E G H38896460OMIM:617756Erythrokeratodermia variabilis et progressiva 5.65
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT83 CL E G H38896460ORPHA:316Progressive symmetric erythrokeratodermia65
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT9 CL E G H38576447ORPHA:2199Epidermolytic palmoplantar keratoderma66
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT9 CL E G H38576447OMIM:144200Palmoplantar keratoderma, epidermolytic.66
HP:0000972HP:0000972Palmoplantar hyperkeratosis0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:0000972HP:0000972Palmoplantar hyperkeratosis0LAMA4 CL E G H39106484ORPHA:154Familial isolated dilated cardiomyopathy279
HP:0000972HP:0000972Palmoplantar hyperkeratosis0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:0000972HP:0000972Palmoplantar hyperkeratosis0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:0000972HP:0000972Palmoplantar hyperkeratosis0LDB3 CL E G H1115515710ORPHA:154Familial isolated dilated cardiomyopathy286
HP:0000972HP:0000972Palmoplantar hyperkeratosis0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0000972HP:0000972Palmoplantar hyperkeratosis0LMNA CL E G H40006636ORPHA:154Familial isolated dilated cardiomyopathy645
HP:0000972HP:0000972Palmoplantar hyperkeratosis0LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosis
HP:0000972HP:0000972Palmoplantar hyperkeratosis0LORICRIN CL E G H40146663ORPHA:316Progressive symmetric erythrokeratodermia
HP:0000972HP:0000972Palmoplantar hyperkeratosis0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0000972HP:0000972Palmoplantar hyperkeratosis0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0000972HP:0000972Palmoplantar hyperkeratosis0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0000972HP:0000972Palmoplantar hyperkeratosis0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0000972HP:0000972Palmoplantar hyperkeratosis0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques22
HP:0000972HP:0000972Palmoplantar hyperkeratosis0MBTPS2 CL E G H5136015455OMIM:300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked.22
HP:0000972HP:0000972Palmoplantar hyperkeratosis0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IV78
HP:0000972HP:0000972Palmoplantar hyperkeratosis0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000972HP:0000972Palmoplantar hyperkeratosis0MYBPC3 CL E G H46077551ORPHA:154Familial isolated dilated cardiomyopathy1143
HP:0000972HP:0000972Palmoplantar hyperkeratosis0MYH6 CL E G H46247576ORPHA:154Familial isolated dilated cardiomyopathy452
HP:0000972HP:0000972Palmoplantar hyperkeratosis0MYH7 CL E G H46257577ORPHA:154Familial isolated dilated cardiomyopathy1269
HP:0000972HP:0000972Palmoplantar hyperkeratosis0MYPN CL E G H8466523246ORPHA:154Familial isolated dilated cardiomyopathy217
HP:0000972HP:0000972Palmoplantar hyperkeratosis0NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome.4
HP:0000972HP:0000972Palmoplantar hyperkeratosis0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040283 - Occasional4
HP:0000972HP:0000972Palmoplantar hyperkeratosis0NEXN CL E G H9162429557ORPHA:154Familial isolated dilated cardiomyopathy167
HP:0000972HP:0000972Palmoplantar hyperkeratosis0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0000972HP:0000972Palmoplantar hyperkeratosis0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 127
HP:0000972HP:0000972Palmoplantar hyperkeratosis0NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythroderma60
HP:0000972HP:0000972Palmoplantar hyperkeratosis0NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 660
HP:0000972HP:0000972Palmoplantar hyperkeratosis0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0000972HP:0000972Palmoplantar hyperkeratosis0NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healing37
HP:0000972HP:0000972Palmoplantar hyperkeratosis0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0000972HP:0000972Palmoplantar hyperkeratosis0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 117
HP:0000972HP:0000972Palmoplantar hyperkeratosis0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PEPD CL E G H51848840ORPHA:742Prolidase deficiency66
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PERP CL E G H6406517637OMIM:619209ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PERP CL E G H6406517637OMIM:619208OLMSTED SYNDROME 2; OLMS2
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5.162
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndrome107
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy.759
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PLEC CL E G H53399069ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement759
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PLN CL E G H53509080ORPHA:154Familial isolated dilated cardiomyopathy57
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythroderma47
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 1047
HP:0000972HP:0000972Palmoplantar hyperkeratosis0POMP CL E G H5137120330OMIM:601952Keratosis linearis with ichthyosis congenita and sclerosing keratoderma2
HP:0000972HP:0000972Palmoplantar hyperkeratosis0POMP CL E G H5137120330ORPHA:281201Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome2
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PPCS CL E G H7971725686ORPHA:154Familial isolated dilated cardiomyopathy
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PRDM16 CL E G H6397614000ORPHA:154Familial isolated dilated cardiomyopathy148
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PSEN1 CL E G H56639508ORPHA:154Familial isolated dilated cardiomyopathy241
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PSEN2 CL E G H56649509ORPHA:154Familial isolated dilated cardiomyopathy59
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0000972HP:0000972Palmoplantar hyperkeratosis0RAF1 CL E G H58949829ORPHA:154Familial isolated dilated cardiomyopathy212
HP:0000972HP:0000972Palmoplantar hyperkeratosis0RBM20 CL E G H28299627424ORPHA:154Familial isolated dilated cardiomyopathy363
HP:0000972HP:0000972Palmoplantar hyperkeratosis0RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndrome80
HP:0000972HP:0000972Palmoplantar hyperkeratosis0RHBDF2 CL E G H7965120788OMIM:148500Tylosis with esophageal cancer80
HP:0000972HP:0000972Palmoplantar hyperkeratosis0RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0000972HP:0000972Palmoplantar hyperkeratosis0RSPO1 CL E G H28465421679ORPHA:85112Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome3
HP:0000972HP:0000972Palmoplantar hyperkeratosis0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SASH1 CL E G H2332819182OMIM:618373Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma1
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SCN5A CL E G H633110593ORPHA:154Familial isolated dilated cardiomyopathy1134
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SDHA CL E G H638910680ORPHA:154Familial isolated dilated cardiomyopathy304
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SDR9C7 CL E G H12121429958OMIM:617574Ichthyosis, congenital, autosomal recessive 13.2
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SERPINA12 CL E G H14526418359ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SERPINB7 CL E G H871013902ORPHA:140966Palmoplantar keratoderma, Nagashima type4
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SGCD CL E G H644410807ORPHA:154Familial isolated dilated cardiomyopathy223
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SLCO2A1 CL E G H657810955ORPHA:2796Pachydermoperiostosis13
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SLURP1 CL E G H5715218746ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen type15
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SLURP1 CL E G H5715218746ORPHA:87503Mal de Meleda15
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SLURP1 CL E G H5715218746OMIM:248300Meleda disease15
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SMARCAD1 CL E G H5691618398OMIM:181600Huriez syndrome6
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SMARCAD1 CL E G H5691618398ORPHA:384Huriez syndrome6
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndrome94
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDG80
HP:0000972HP:0000972Palmoplantar hyperkeratosis0STS CL E G H41211425OMIM:308100Ichthyosis, X-linked19
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TAF1A CL E G H901511532ORPHA:154Familial isolated dilated cardiomyopathy
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TAFAZZIN CL E G H690111577ORPHA:154Familial isolated dilated cardiomyopathy
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TAT CL E G H689811573ORPHA:28378Tyrosinemia type 243
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TCAP CL E G H855711610ORPHA:154Familial isolated dilated cardiomyopathy78
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2.238
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosisHP:0040283 - Occasional98
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythroderma98
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 1HP:0040283 - Occasional98
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TMPO CL E G H711211875ORPHA:154Familial isolated dilated cardiomyopathy136
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndrome
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TNNC1 CL E G H713411943ORPHA:154Familial isolated dilated cardiomyopathy73
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TNNI3 CL E G H713711947ORPHA:154Familial isolated dilated cardiomyopathy180
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TNNT2 CL E G H713911949ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TPM1 CL E G H716812010ORPHA:154Familial isolated dilated cardiomyopathy230
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndrome27
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TRNS1 CL E G H45747497ORPHA:2202Palmoplantar keratoderma-deafness syndrome
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TRPM4 CL E G H5479517993ORPHA:316Progressive symmetric erythrokeratodermia124
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques151
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques151
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TRPV3 CL E G H16251418084OMIM:616400Palmoplantar keratoderma, nonepidermolytic, focal 2151
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TTN CL E G H727312403ORPHA:154Familial isolated dilated cardiomyopathy7128
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TXNRD2 CL E G H1058718155ORPHA:154Familial isolated dilated cardiomyopathy85
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0000972HP:0000972Palmoplantar hyperkeratosis0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0000972HP:0000972Palmoplantar hyperkeratosis0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0000972HP:0000972Palmoplantar hyperkeratosis0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0000972HP:0000972Palmoplantar hyperkeratosis0VCL CL E G H741412665ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0000972HP:0000972Palmoplantar hyperkeratosis0VPS33B CL E G H2627612712OMIM:62000963
HP:0000972HP:0000972Palmoplantar hyperkeratosis0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0000972HP:0000972Palmoplantar hyperkeratosis0WNT10A CL E G H8032613829ORPHA:50944Schöpf-Schulz-Passarge syndrome71
HP:0000972HP:0000972Palmoplantar hyperkeratosis0WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome71
HP:0000972HP:0000972Palmoplantar hyperkeratosis0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0000972HP:0007613Spinous keratoses of palms and soles1 CL E G H
HP:0000972HP:0000982Palmoplantar keratoderma1AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040282 - Frequent57
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1AAGAB CL E G H7971925662OMIM:148600Palmoplantar keratoderma, punctate type IA7
HP:0000972HP:0000982Palmoplantar keratoderma1AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040281 - Very frequent7
HP:0000972HP:0000982Palmoplantar keratoderma1ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent130
HP:0000972HP:0000982Palmoplantar keratoderma1ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A.130
HP:0000972HP:0000982Palmoplantar keratoderma1ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional254
HP:0000972HP:0000982Palmoplantar keratoderma1ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional208
HP:0000972HP:0000982Palmoplantar keratoderma1ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional307
HP:0000972HP:0000982Palmoplantar keratoderma1AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040281 - Very frequent54
HP:0000972HP:0000982Palmoplantar keratoderma1ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent75
HP:0000972HP:0000982Palmoplantar keratoderma1ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2.75
HP:0000972HP:0000982Palmoplantar keratoderma1ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent63
HP:0000972HP:0000982Palmoplantar keratoderma1ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2.63
HP:0000972HP:0000982Palmoplantar keratoderma1ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 3HP:0040283 - Occasional63
HP:0000972HP:0000982Palmoplantar keratoderma1ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional95
HP:0000972HP:0000982Palmoplantar keratoderma1AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1AQP5 CL E G H362638ORPHA:2337Non-epidermolytic palmoplantar keratodermaHP:0040281 - Very frequent5
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1AQP5 CL E G H362638OMIM:600231PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB5
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1ATP2A2 CL E G H488812OMIM:101900Acrokeratosis verruciformis86
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of HopfHP:0040282 - Frequent86
HP:0000972HP:0000982Palmoplantar keratoderma1ATP2A2 CL E G H488812ORPHA:218Darier diseaseHP:0040282 - Frequent86
HP:0000972HP:0000982Palmoplantar keratoderma1BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional204
HP:0000972HP:0000982Palmoplantar keratoderma1BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0000972HP:0000982Palmoplantar keratoderma1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent276
HP:0000972HP:0000982Palmoplantar keratoderma1CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0000972HP:0000982Palmoplantar keratoderma1CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilarisHP:0040281 - Very frequent33
HP:0000972HP:0000982Palmoplantar keratoderma1CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris33
HP:0000972HP:0000982Palmoplantar keratoderma1CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.4
HP:0000972HP:0000982Palmoplantar keratoderma1CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040282 - Frequent
HP:0000972HP:0000982Palmoplantar keratoderma1CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent5
HP:0000972HP:0000982Palmoplantar keratoderma1CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratodermaHP:0040281 - Very frequent1371
HP:0000972HP:0000982Palmoplantar keratoderma1COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040281 - Very frequent2
HP:0000972HP:0000982Palmoplantar keratoderma1COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional129
HP:0000972HP:0000982Palmoplantar keratoderma1CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional46
HP:0000972HP:0000982Palmoplantar keratoderma1CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional104
HP:0000972HP:0000982Palmoplantar keratoderma1CSTA CL E G H14752481OMIM:607936Peeling skin syndrome 4.4
HP:0000972HP:0000982Palmoplantar keratoderma1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0000972HP:0000982Palmoplantar keratoderma1CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040282 - Frequent10
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome.50
HP:0000972HP:0000982Palmoplantar keratoderma1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040281 - Very frequent50
HP:0000972HP:0000982Palmoplantar keratoderma1CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 5HP:0040283 - Occasional54
HP:0000972HP:0000982Palmoplantar keratoderma1DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional263
HP:0000972HP:0000982Palmoplantar keratoderma1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0000972HP:0000982Palmoplantar keratoderma1DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1496
HP:0000972HP:0000982Palmoplantar keratoderma1DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional55
HP:0000972HP:0000982Palmoplantar keratoderma1DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11.268
HP:0000972HP:0000982Palmoplantar keratoderma1DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige.16
HP:0000972HP:0000982Palmoplantar keratoderma1DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0000972HP:0000982Palmoplantar keratoderma1DSG1 CL E G H18283048ORPHA:50942Striate palmoplantar keratodermaHP:0040281 - Very frequent16
HP:0000972HP:0000982Palmoplantar keratoderma1DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional358
HP:0000972HP:0000982Palmoplantar keratoderma1DSP CL E G H18323052OMIM:605676Cardiomyopathy, dilated, with woolly hair and keratoderma747
HP:0000972HP:0000982Palmoplantar keratoderma1DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis.747
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1DSP CL E G H18323052ORPHA:65282Carvajal syndromeHP:0040281 - Very frequent747
HP:0000972HP:0000982Palmoplantar keratoderma1DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional747
HP:0000972HP:0000982Palmoplantar keratoderma1DSP CL E G H18323052OMIM:612908Keratosis palmoplantaris striata II.747
HP:0000972HP:0000982Palmoplantar keratoderma1DSP CL E G H18323052ORPHA:50942Striate palmoplantar keratodermaHP:0040281 - Very frequent747
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1ENPP1 CL E G H51673356OMIM:615522Cole disease151
HP:0000972HP:0000982Palmoplantar keratoderma1ENPP1 CL E G H51673356OMIM:615522Cole disease.151
HP:0000972HP:0000982Palmoplantar keratoderma1FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040281 - Very frequent136
HP:0000972HP:0000982Palmoplantar keratoderma1FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040281 - Very frequent175
HP:0000972HP:0000982Palmoplantar keratoderma1FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional36
HP:0000972HP:0000982Palmoplantar keratoderma1FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional184
HP:0000972HP:0000982Palmoplantar keratoderma1GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional35
HP:0000972HP:0000982Palmoplantar keratoderma1GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopeciaHP:0040281 - Very frequent68
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent68
HP:0000972HP:0000982Palmoplantar keratoderma1GJA1 CL E G H26974274OMIM:617525Erythrokeratodermia variabilis et progressiva 3.68
HP:0000972HP:0000982Palmoplantar keratoderma1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040283 - Occasional68
HP:0000972HP:0000982Palmoplantar keratoderma1GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0000972HP:0000982Palmoplantar keratoderma1GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilansHP:0040281 - Very frequent199
HP:0000972HP:0000982Palmoplantar keratoderma1GJB2 CL E G H27064284ORPHA:477KID syndromeHP:0040282 - Frequent199
HP:0000972HP:0000982Palmoplantar keratoderma1GJB2 CL E G H27064284OMIM:149200Knuckle pads, leukonychia, and sensorineural deafness199
HP:0000972HP:0000982Palmoplantar keratoderma1GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndromeHP:0040282 - Frequent199
HP:0000972HP:0000982Palmoplantar keratoderma1GJB2 CL E G H27064284ORPHA:2202Palmoplantar keratoderma-deafness syndromeHP:0040281 - Very frequent199
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1GJB2 CL E G H27064284OMIM:124500VOHWINKEL SYNDROME; VOWNKL199
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent74
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 1.74
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent12
HP:0000972HP:0000982Palmoplantar keratoderma1GJB4 CL E G H1275344286OMIM:617524Erythrokeratodermia variabilis et progressiva 2.12
HP:0000972HP:0000982Palmoplantar keratoderma1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasiaHP:0040282 - Frequent56
HP:0000972HP:0000982Palmoplantar keratoderma1GJB6 CL E G H108044288ORPHA:477KID syndromeHP:0040282 - Frequent56
HP:0000972HP:0000982Palmoplantar keratoderma1GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040282 - Frequent24
HP:0000972HP:0000982Palmoplantar keratoderma1HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional2
HP:0000972HP:0000982Palmoplantar keratoderma1HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional55
HP:0000972HP:0000982Palmoplantar keratoderma1ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional124
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0000972HP:0000982Palmoplantar keratoderma1JUP CL E G H37286207ORPHA:34217Naxos diseaseHP:0040281 - Very frequent222
HP:0000972HP:0000982Palmoplantar keratoderma1JUP CL E G H37286207OMIM:601214Naxos disease.222
HP:0000972HP:0000982Palmoplantar keratoderma1KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair.1
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent4
HP:0000972HP:0000982Palmoplantar keratoderma1KDSR CL E G H25314021ORPHA:316Progressive symmetric erythrokeratodermiaHP:0040281 - Very frequent4
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0000972HP:0000982Palmoplantar keratoderma1KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040281 - Very frequent1
HP:0000972HP:0000982Palmoplantar keratoderma1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent196
HP:0000972HP:0000982Palmoplantar keratoderma1KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040283 - Occasional100
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:79503Ichthyosis hystrix of Curth-MacklinHP:0040281 - Very frequent100
HP:0000972HP:0000982Palmoplantar keratoderma1KRT1 CL E G H38486412OMIM:607654KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3100
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratodermaHP:0040280 - Obligate100
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratodermaHP:0040281 - Very frequent100
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KRT1 CL E G H38486412OMIM:600962PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK100
HP:0000972HP:0000982Palmoplantar keratoderma1KRT1 CL E G H38486412ORPHA:50942Striate palmoplantar keratodermaHP:0040281 - Very frequent100
HP:0000972HP:0000982Palmoplantar keratoderma1KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040283 - Occasional45
HP:0000972HP:0000982Palmoplantar keratoderma1KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040281 - Very frequent110
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplexHP:0040281 - Very frequent110
HP:0000972HP:0000982Palmoplantar keratoderma1KRT14 CL E G H38616416OMIM:161000Naegeli syndrome.110
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT16 CL E G H38686423ORPHA:2199Epidermolytic palmoplantar keratoderma27
HP:0000972HP:0000982Palmoplantar keratoderma1KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent27
HP:0000972HP:0000982Palmoplantar keratoderma1KRT16 CL E G H38686423OMIM:613000Palmoplantar keratoderma, nonepidermolytic, focal 1.27
HP:0000972HP:0000982Palmoplantar keratoderma1KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent23
HP:0000972HP:0000982Palmoplantar keratoderma1KRT2 CL E G H38496439ORPHA:455Superficial epidermolytic ichthyosisHP:0040281 - Very frequent67
HP:0000972HP:0000982Palmoplantar keratoderma1KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040281 - Very frequent173
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation.173
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplexHP:0040281 - Very frequent173
HP:0000972HP:0000982Palmoplantar keratoderma1KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent41
HP:0000972HP:0000982Palmoplantar keratoderma1KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 3.41
HP:0000972HP:0000982Palmoplantar keratoderma1KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenitaHP:0040281 - Very frequent4
HP:0000972HP:0000982Palmoplantar keratoderma1KRT6B CL E G H38546444OMIM:615728Pachyonychia congenita 4.4
HP:0000972HP:0000982Palmoplantar keratoderma1KRT6C CL E G H28688720406OMIM:615735Palmoplantar keratoderma, nonepidermolytic, focal or diffuse.4
HP:0000972HP:0000982Palmoplantar keratoderma1KRT83 CL E G H38896460ORPHA:316Progressive symmetric erythrokeratodermiaHP:0040281 - Very frequent65
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT9 CL E G H38576447ORPHA:2199Epidermolytic palmoplantar keratoderma66
HP:0000972HP:0000982Palmoplantar keratoderma1LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0000972HP:0000982Palmoplantar keratoderma1LAMA4 CL E G H39106484ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional279
HP:0000972HP:0000982Palmoplantar keratoderma1LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0000972HP:0000982Palmoplantar keratoderma1LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0000972HP:0000982Palmoplantar keratoderma1LDB3 CL E G H1115515710ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional286
HP:0000972HP:0000982Palmoplantar keratoderma1LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndromeHP:0040283 - Occasional68
HP:0000972HP:0000982Palmoplantar keratoderma1LMNA CL E G H40006636ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional645
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosisHP:0040281 - Very frequent
HP:0000972HP:0000982Palmoplantar keratoderma1LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosis
HP:0000972HP:0000982Palmoplantar keratoderma1LORICRIN CL E G H40146663ORPHA:316Progressive symmetric erythrokeratodermiaHP:0040281 - Very frequent
HP:0000972HP:0000982Palmoplantar keratoderma1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent134
HP:0000972HP:0000982Palmoplantar keratoderma1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent178
HP:0000972HP:0000982Palmoplantar keratoderma1MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0000972HP:0000982Palmoplantar keratoderma1MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent22
HP:0000972HP:0000982Palmoplantar keratoderma1MBTPS2 CL E G H5136015455OMIM:300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked.22
HP:0000972HP:0000982Palmoplantar keratoderma1MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IVHP:0040283 - Occasional78
HP:0000972HP:0000982Palmoplantar keratoderma1MYBPC3 CL E G H46077551ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1143
HP:0000972HP:0000982Palmoplantar keratoderma1MYH6 CL E G H46247576ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional452
HP:0000972HP:0000982Palmoplantar keratoderma1MYH7 CL E G H46257577ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1269
HP:0000972HP:0000982Palmoplantar keratoderma1MYPN CL E G H8466523246ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional217
HP:0000972HP:0000982Palmoplantar keratoderma1NEXN CL E G H9162429557ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional167
HP:0000972HP:0000982Palmoplantar keratoderma1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional27
HP:0000972HP:0000982Palmoplantar keratoderma1NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent60
HP:0000972HP:0000982Palmoplantar keratoderma1NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 6.60
HP:0000972HP:0000982Palmoplantar keratoderma1NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healing.37
HP:0000972HP:0000982Palmoplantar keratoderma1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional17
HP:0000972HP:0000982Palmoplantar keratoderma1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional12
HP:0000972HP:0000982Palmoplantar keratoderma1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional26
HP:0000972HP:0000982Palmoplantar keratoderma1PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040281 - Very frequent66
HP:0000972HP:0000982Palmoplantar keratoderma1PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent
HP:0000972HP:0000982Palmoplantar keratoderma1PERP CL E G H6406517637OMIM:619208OLMSTED SYNDROME 2; OLMS2
HP:0000972HP:0000982Palmoplantar keratoderma1PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040281 - Very frequent162
HP:0000972HP:0000982Palmoplantar keratoderma1PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040281 - Very frequent107
HP:0000972HP:0000982Palmoplantar keratoderma1PLEC CL E G H53399069ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvementHP:0040282 - Frequent759
HP:0000972HP:0000982Palmoplantar keratoderma1PLN CL E G H53509080ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional57
HP:0000972HP:0000982Palmoplantar keratoderma1PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent47
HP:0000972HP:0000982Palmoplantar keratoderma1PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 10.47
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1POMP CL E G H5137120330OMIM:601952Keratosis linearis with ichthyosis congenita and sclerosing keratoderma.2
HP:0000972HP:0000982Palmoplantar keratoderma1POMP CL E G H5137120330ORPHA:281201Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndromeHP:0040281 - Very frequent2
HP:0000972HP:0000982Palmoplantar keratoderma1PPCS CL E G H7971725686ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0000972HP:0000982Palmoplantar keratoderma1PRDM16 CL E G H6397614000ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional148
HP:0000972HP:0000982Palmoplantar keratoderma1PSEN1 CL E G H56639508ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional241
HP:0000972HP:0000982Palmoplantar keratoderma1PSEN2 CL E G H56649509ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional59
HP:0000972HP:0000982Palmoplantar keratoderma1PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040281 - Very frequent948
HP:0000972HP:0000982Palmoplantar keratoderma1RAF1 CL E G H58949829ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional212
HP:0000972HP:0000982Palmoplantar keratoderma1RBM20 CL E G H28299627424ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional363
HP:0000972HP:0000982Palmoplantar keratoderma1RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndromeHP:0040281 - Very frequent80
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1RHBDF2 CL E G H7965120788OMIM:148500Tylosis with esophageal cancer.80
HP:0000972HP:0000982Palmoplantar keratoderma1RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal.3
HP:0000972HP:0000982Palmoplantar keratoderma1RSPO1 CL E G H28465421679ORPHA:85112Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndromeHP:0040281 - Very frequent3
HP:0000972HP:0000982Palmoplantar keratoderma1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional77
HP:0000972HP:0000982Palmoplantar keratoderma1SASH1 CL E G H2332819182OMIM:618373Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma.1
HP:0000972HP:0000982Palmoplantar keratoderma1SCN5A CL E G H633110593ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1134
HP:0000972HP:0000982Palmoplantar keratoderma1SDHA CL E G H638910680ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional304
HP:0000972HP:0000982Palmoplantar keratoderma1SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040281 - Very frequent237
HP:0000972HP:0000982Palmoplantar keratoderma1SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040281 - Very frequent147
HP:0000972HP:0000982Palmoplantar keratoderma1SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040281 - Very frequent129
HP:0000972HP:0000982Palmoplantar keratoderma1SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040281 - Very frequent60
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1SERPINA12 CL E G H14526418359ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen typeHP:0040281 - Very frequent
HP:0000972HP:0000982Palmoplantar keratoderma1SERPINB7 CL E G H871013902ORPHA:140966Palmoplantar keratoderma, Nagashima typeHP:0040281 - Very frequent4
HP:0000972HP:0000982Palmoplantar keratoderma1SGCD CL E G H644410807ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional223
HP:0000972HP:0000982Palmoplantar keratoderma1SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional13
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1SLURP1 CL E G H5715218746ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen typeHP:0040281 - Very frequent15
HP:0000972HP:0000982Palmoplantar keratoderma1SLURP1 CL E G H5715218746ORPHA:87503Mal de Meleda15
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1SLURP1 CL E G H5715218746ORPHA:87503Mal de Meleda15
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1SLURP1 CL E G H5715218746OMIM:248300Meleda disease15
HP:0000972HP:0000982Palmoplantar keratoderma1SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1SMARCAD1 CL E G H5691618398OMIM:181600Huriez syndrome6
HP:0000972HP:0000982Palmoplantar keratoderma1SMARCAD1 CL E G H5691618398ORPHA:384Huriez syndromeHP:0040281 - Very frequent6
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndromeHP:0040281 - Very frequent94
HP:0000972HP:0000982Palmoplantar keratoderma1SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0000972HP:0000982Palmoplantar keratoderma1SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDGHP:0040283 - Occasional80
HP:0000972HP:0000982Palmoplantar keratoderma1STS CL E G H41211425OMIM:308100Ichthyosis, X-linked19
HP:0000972HP:0000982Palmoplantar keratoderma1TAF1A CL E G H901511532ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0000972HP:0000982Palmoplantar keratoderma1TAFAZZIN CL E G H690111577ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0000972HP:0000982Palmoplantar keratoderma1TAT CL E G H689811573ORPHA:28378Tyrosinemia type 2HP:0040281 - Very frequent43
HP:0000972HP:0000982Palmoplantar keratoderma1TCAP CL E G H855711610ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional78
HP:0000972HP:0000982Palmoplantar keratoderma1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional48
HP:0000972HP:0000982Palmoplantar keratoderma1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional238
HP:0000972HP:0000982Palmoplantar keratoderma1TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent98
HP:0000972HP:0000982Palmoplantar keratoderma1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional60
HP:0000972HP:0000982Palmoplantar keratoderma1TMPO CL E G H711211875ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional136
HP:0000972HP:0000982Palmoplantar keratoderma1TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndromeHP:0040282 - Frequent
HP:0000972HP:0000982Palmoplantar keratoderma1TNNC1 CL E G H713411943ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional73
HP:0000972HP:0000982Palmoplantar keratoderma1TNNI3 CL E G H713711947ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional180
HP:0000972HP:0000982Palmoplantar keratoderma1TNNT2 CL E G H713911949ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional248
HP:0000972HP:0000982Palmoplantar keratoderma1TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0000972HP:0000982Palmoplantar keratoderma1TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0000972HP:0000982Palmoplantar keratoderma1TPM1 CL E G H716812010ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional230
HP:0000972HP:0000982Palmoplantar keratoderma1TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndromeHP:0040282 - Frequent27
HP:0000972HP:0000982Palmoplantar keratoderma1TRNS1 CL E G H45747497ORPHA:2202Palmoplantar keratoderma-deafness syndromeHP:0040281 - Very frequent
HP:0000972HP:0000982Palmoplantar keratoderma1TRPM4 CL E G H5479517993ORPHA:316Progressive symmetric erythrokeratodermiaHP:0040281 - Very frequent124
HP:0000972HP:0000982Palmoplantar keratoderma1TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent151
HP:0000972HP:0000982Palmoplantar keratoderma1TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques.151
HP:0000972HP:0000982Palmoplantar keratoderma1TRPV3 CL E G H16251418084OMIM:616400Palmoplantar keratoderma, nonepidermolytic, focal 2.151
HP:0000972HP:0000982Palmoplantar keratoderma1TTN CL E G H727312403ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional7128
HP:0000972HP:0000982Palmoplantar keratoderma1TXNRD2 CL E G H1058718155ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional85
HP:0000972HP:0000982Palmoplantar keratoderma1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional1
HP:0000972HP:0000982Palmoplantar keratoderma1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional8
HP:0000972HP:0000982Palmoplantar keratoderma1USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0000972HP:0000982Palmoplantar keratoderma1USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040281 - Very frequent1
HP:0000972HP:0000982Palmoplantar keratoderma1VCL CL E G H741412665ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional248
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1VPS33B CL E G H2627612712OMIM:62000963
HP:0000972HP:0000982Palmoplantar keratoderma1WNT10A CL E G H8032613829ORPHA:50944Schöpf-Schulz-Passarge syndromeHP:0040281 - Very frequent71
HP:0000972HP:0000982Palmoplantar keratoderma1WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome.71
HP:0000972HP:0000982Palmoplantar keratoderma1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional40


Genes (164) :AAAS AAGAB ABCA12 ABCC9 ACTC1 ACTN2 AKT1 ALOX12B ALOXE3 ANKRD1 AP1B1 AQP5 ATP2A2 BAG3 BAG5 BRAF CAP2 CARD14 CAST CD28 CERS3 CFTR COG6 COL14A1 COL17A1 COL7A1 CRYAB CSRP3 CSTA CTC1 CTLA4 CTSC CYP4F22 DES DKC1 DMD DOLK DSC2 DSG1 DSG2 DSP ENPP1 FERMT1 FGFR2 FHL2 FIG4 FKTN GATAD1 GJA1 GJB2 GJB3 GJB4 GJB6 GMPPA HAND2 HPGD ITGB4 JUP KANK2 KDSR KLHL24 KLLN KRAS KRT1 KRT10 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT6C KRT83 KRT9 LAMA3 LAMA4 LAMB3 LAMC2 LDB3 LEMD3 LMNA LORICRIN MAP2K1 MAP2K2 MBTPS2 MCOLN1 MTX2 MYBPC3 MYH6 MYH7 MYPN NECTIN1 NEXN NHP2 NIPAL4 NLRP1 NOP10 NPM1 PARN PEPD PERP PIGL PIK3CA PKP1 PLEC PLN PNPLA1 POMP PPCS PRDM16 PSEN1 PSEN2 PTEN RAF1 RBM20 RHBDF2 RSPO1 RTEL1 SASH1 SCN5A SDHA SDHB SDHC SDHD SDR9C7 SEC23B SERPINA12 SERPINB7 SGCD SLCO2A1 SLURP1 SMARCAD1 SNAP29 SRD5A3 STS TAF1A TAFAZZIN TAT TCAP TERC TERT TGM1 TINF2 TMPO TNFRSF1B TNNC1 TNNI3 TNNT2 TP63 TPM1 TRAPPC11 TRNS1 TRPM4 TRPV3 TTN TXNRD2 TYMS USB1 USF3 VCL VPS33B WNT10A WRAP53

Diseases (158) :OMIM:231550 ORPHA:869 OMIM:148600 ORPHA:79501 ORPHA:79394 OMIM:601277 ORPHA:154 ORPHA:201 OMIM:615109 OMIM:242100 OMIM:606545 OMIM:242150 ORPHA:2337 OMIM:600231 OMIM:101900 ORPHA:79151 ORPHA:218 ORPHA:1340 OMIM:173200 ORPHA:2897 OMIM:616295 ORPHA:3162 ORPHA:498359 ORPHA:363523 OMIM:615328 ORPHA:79402 ORPHA:158673 OMIM:607936 ORPHA:1775 OMIM:245010 ORPHA:678 OMIM:245000 OMIM:604777 OMIM:610476 OMIM:615508 OMIM:148700 ORPHA:50942 OMIM:605676 OMIM:615821 ORPHA:65282 OMIM:612908 OMIM:607655 OMIM:615522 ORPHA:2908 OMIM:173650 ORPHA:1555 OMIM:216340 ORPHA:1010 ORPHA:317 OMIM:617525 ORPHA:2710 OMIM:104100 OMIM:602540 ORPHA:494 OMIM:148350 ORPHA:477 OMIM:149200 ORPHA:2698 ORPHA:2202 OMIM:124500 OMIM:133200 OMIM:617524 OMIM:129500 ORPHA:189 OMIM:259100 ORPHA:2796 OMIM:601214 ORPHA:34217 OMIM:616099 OMIM:617526 ORPHA:316 OMIM:617294 ORPHA:312 OMIM:113800 ORPHA:2199 ORPHA:79503 OMIM:607654 ORPHA:530838 OMIM:144200 OMIM:600962 OMIM:609165 OMIM:607602 ORPHA:79396 ORPHA:89838 OMIM:125595 OMIM:131760 OMIM:131900 ORPHA:79400 OMIM:161000 ORPHA:69087 ORPHA:2309 OMIM:167200 OMIM:613000 OMIM:167210 ORPHA:455 OMIM:619555 OMIM:131960 OMIM:615726 OMIM:615728 OMIM:615735 OMIM:617756 ORPHA:1306 ORPHA:79395 OMIM:615280 OMIM:308800 ORPHA:659 OMIM:300918 ORPHA:578 OMIM:619127 OMIM:225060 ORPHA:3253 OMIM:224230 OMIM:612281 OMIM:617388 OMIM:615225 ORPHA:742 OMIM:619209 OMIM:619208 OMIM:280000 OMIM:615108 ORPHA:158668 OMIM:604536 OMIM:226670 ORPHA:79401 OMIM:615024 OMIM:601952 ORPHA:281201 OMIM:158350 ORPHA:2198 OMIM:148500 OMIM:610644 ORPHA:85112 OMIM:618373 OMIM:617574 ORPHA:86923 ORPHA:140966 ORPHA:87503 OMIM:248300 OMIM:129200 OMIM:181600 ORPHA:384 ORPHA:66631 OMIM:609528 ORPHA:324737 OMIM:308100 ORPHA:28378 OMIM:613989 ORPHA:100976 OMIM:242300 OMIM:106260 OMIM:129400 OMIM:614594 OMIM:616400 OMIM:604173 OMIM:620009 OMIM:257980 ORPHA:50944 OMIM:224750
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.