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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000972HP:0000972Palmoplantar hyperkeratosis0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0000972HP:0000972Palmoplantar hyperkeratosis0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000972HP:0000972Palmoplantar hyperkeratosis0COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM131518621606977
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CTSC CL E G H1075678ORPHA12682528602365
HP:0000972HP:0000972Palmoplantar hyperkeratosis0CTSC CL E G H1075245000Papillon-Lefèvre syndrome245000C0030360OMIM12682528602365
HP:0000972HP:0000972Palmoplantar hyperkeratosis0FERMT1 CL E G H55612173650Kindler's syndrome173650C0406557OMIM142115889607900
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJA1 CL E G H26971010ORPHA12214274121014
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM12214274121014
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJB2 CL E G H2706148350Keratoderma palmoplantar deafness148350C1835672OMIM15164284121011
HP:0000972HP:0000972Palmoplantar hyperkeratosis0GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12354288604418
HP:0000972HP:0000972Palmoplantar hyperkeratosis0HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KDSR CL E G H2531617526Erythrokeratodermia variabilis et progressiva 4617526C4479620OMIM1994021136440
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT1 CL E G H3848113800Bullous ichthyosiform erythroderma113800C0079153OMIM11556412139350
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT1 CL E G H3848607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11556412139350
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT1 CL E G H3848144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11556412139350
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT10 CL E G H3858113800Bullous ichthyosiform erythroderma113800C0079153OMIM11276413148080
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM11276413148080
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT10 CL E G H3858607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11276413148080
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT14 CL E G H3861125595Dermatopathia pigmentosa reticularis125595C0406778OMIM11676416148066
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11676416148066
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT14 CL E G H3861131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM11676416148066
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT16 CL E G H3868167200Pachyonychia congenita 1167200C1706595OMIM1726423148067
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT17 CL E G H3872167210Pachyonychia congenita 2167210C1721007OMIM1696427148069
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM12586442148040
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT5 CL E G H3852131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM12586442148040
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT83 CL E G H3889617756ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5617756C4540331OMIM11256460602765
HP:0000972HP:0000972Palmoplantar hyperkeratosis0KRT9 CL E G H3857144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11376447607606
HP:0000972HP:0000972Palmoplantar hyperkeratosis0MBTPS2 CL E G H51360300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked300918C3806745OMIM124815455300294
HP:0000972HP:0000972Palmoplantar hyperkeratosis0NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM141529069601282
HP:0000972HP:0000972Palmoplantar hyperkeratosis0PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0000972HP:0000972Palmoplantar hyperkeratosis0SDR9C7 CL E G H121214617574ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13617574C4539772OMIM13629958609769
HP:0000972HP:0007613Spinous keratoses of palms and soles1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0000972HP:0000982Palmoplantar keratoderma1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM118713666605378
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000972HP:0000982Palmoplantar keratoderma1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000972HP:0007613Spinous keratoses of palms and soles1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM1634391164730
HP:0000972HP:0000982Palmoplantar keratoderma1COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM131518621606977
HP:0000972HP:0007613Spinous keratoses of palms and soles1COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM131518621606977
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM131518621606977
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM131518621606977
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM131518621606977
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM131518621606977
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM131518621606977
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM131518621606977
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM131518621606977
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM131518621606977
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1COG6 CL E G H57511615328Shaheen syndrome615328C3809160OMIM131518621606977
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1CTSC CL E G H1075678ORPHA12682528602365
HP:0000972HP:0000982Palmoplantar keratoderma1CTSC CL E G H1075678ORPHA12682528602365
HP:0000972HP:0007613Spinous keratoses of palms and soles1CTSC CL E G H1075678ORPHA12682528602365
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1CTSC CL E G H1075678ORPHA12682528602365
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1CTSC CL E G H1075678ORPHA12682528602365
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1CTSC CL E G H1075678ORPHA12682528602365
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1CTSC CL E G H1075678ORPHA12682528602365
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1CTSC CL E G H1075678ORPHA12682528602365
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1CTSC CL E G H1075678ORPHA12682528602365
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1CTSC CL E G H1075678ORPHA12682528602365
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1CTSC CL E G H1075678ORPHA12682528602365
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1CTSC CL E G H1075245000Papillon-Lefèvre syndrome245000C0030360OMIM12682528602365
HP:0000972HP:0000982Palmoplantar keratoderma1CTSC CL E G H1075245000Papillon-Lefèvre syndrome245000C0030360OMIM12682528602365
HP:0000972HP:0007613Spinous keratoses of palms and soles1CTSC CL E G H1075245000Papillon-Lefèvre syndrome245000C0030360OMIM12682528602365
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1CTSC CL E G H1075245000Papillon-Lefèvre syndrome245000C0030360OMIM12682528602365
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1CTSC CL E G H1075245000Papillon-Lefèvre syndrome245000C0030360OMIM12682528602365
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1CTSC CL E G H1075245000Papillon-Lefèvre syndrome245000C0030360OMIM12682528602365
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1CTSC CL E G H1075245000Papillon-Lefèvre syndrome245000C0030360OMIM12682528602365
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1CTSC CL E G H1075245000Papillon-Lefèvre syndrome245000C0030360OMIM12682528602365
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1CTSC CL E G H1075245000Papillon-Lefèvre syndrome245000C0030360OMIM12682528602365
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1CTSC CL E G H1075245000Papillon-Lefèvre syndrome245000C0030360OMIM12682528602365
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1CTSC CL E G H1075245000Papillon-Lefèvre syndrome245000C0030360OMIM12682528602365
HP:0000972HP:0007613Spinous keratoses of palms and soles1FERMT1 CL E G H55612173650Kindler's syndrome173650C0406557OMIM142115889607900
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1FERMT1 CL E G H55612173650Kindler's syndrome173650C0406557OMIM142115889607900
HP:0000972HP:0000982Palmoplantar keratoderma1FERMT1 CL E G H55612173650Kindler's syndrome173650C0406557OMIM142115889607900
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1FERMT1 CL E G H55612173650Kindler's syndrome173650C0406557OMIM142115889607900
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1FERMT1 CL E G H55612173650Kindler's syndrome173650C0406557OMIM142115889607900
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1FERMT1 CL E G H55612173650Kindler's syndrome173650C0406557OMIM142115889607900
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1FERMT1 CL E G H55612173650Kindler's syndrome173650C0406557OMIM142115889607900
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1FERMT1 CL E G H55612173650Kindler's syndrome173650C0406557OMIM142115889607900
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1FERMT1 CL E G H55612173650Kindler's syndrome173650C0406557OMIM142115889607900
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1FERMT1 CL E G H55612173650Kindler's syndrome173650C0406557OMIM142115889607900
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1FERMT1 CL E G H55612173650Kindler's syndrome173650C0406557OMIM142115889607900
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1GJA1 CL E G H26971010ORPHA12214274121014
HP:0000972HP:0000982Palmoplantar keratoderma1GJA1 CL E G H26971010ORPHA12214274121014
HP:0000972HP:0007613Spinous keratoses of palms and soles1GJA1 CL E G H26971010ORPHA12214274121014
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1GJA1 CL E G H26971010ORPHA12214274121014
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1GJA1 CL E G H26971010ORPHA12214274121014
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1GJA1 CL E G H26971010ORPHA12214274121014
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1GJA1 CL E G H26971010ORPHA12214274121014
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1GJA1 CL E G H26971010ORPHA12214274121014
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1GJA1 CL E G H26971010ORPHA12214274121014
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1GJA1 CL E G H26971010ORPHA12214274121014
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1GJA1 CL E G H26971010ORPHA12214274121014
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM12214274121014
HP:0000972HP:0000982Palmoplantar keratoderma1GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM12214274121014
HP:0000972HP:0007613Spinous keratoses of palms and soles1GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM12214274121014
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM12214274121014
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM12214274121014
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM12214274121014
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM12214274121014
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM12214274121014
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM12214274121014
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM12214274121014
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM12214274121014
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1GJB2 CL E G H2706148350Keratoderma palmoplantar deafness148350C1835672OMIM15164284121011
HP:0000972HP:0000982Palmoplantar keratoderma1GJB2 CL E G H2706148350Keratoderma palmoplantar deafness148350C1835672OMIM15164284121011
HP:0000972HP:0007613Spinous keratoses of palms and soles1GJB2 CL E G H2706148350Keratoderma palmoplantar deafness148350C1835672OMIM15164284121011
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1GJB2 CL E G H2706148350Keratoderma palmoplantar deafness148350C1835672OMIM15164284121011
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1GJB2 CL E G H2706148350Keratoderma palmoplantar deafness148350C1835672OMIM15164284121011
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1GJB2 CL E G H2706148350Keratoderma palmoplantar deafness148350C1835672OMIM15164284121011
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1GJB2 CL E G H2706148350Keratoderma palmoplantar deafness148350C1835672OMIM15164284121011
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1GJB2 CL E G H2706148350Keratoderma palmoplantar deafness148350C1835672OMIM15164284121011
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1GJB2 CL E G H2706148350Keratoderma palmoplantar deafness148350C1835672OMIM15164284121011
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1GJB2 CL E G H2706148350Keratoderma palmoplantar deafness148350C1835672OMIM15164284121011
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1GJB2 CL E G H2706148350Keratoderma palmoplantar deafness148350C1835672OMIM15164284121011
HP:0000972HP:0007613Spinous keratoses of palms and soles1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12354288604418
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12354288604418
HP:0000972HP:0000982Palmoplantar keratoderma1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12354288604418
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12354288604418
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12354288604418
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12354288604418
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12354288604418
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12354288604418
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12354288604418
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12354288604418
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12354288604418
HP:0000972HP:0007613Spinous keratoses of palms and soles1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0000972HP:0000982Palmoplantar keratoderma1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KDSR CL E G H2531617526Erythrokeratodermia variabilis et progressiva 4617526C4479620OMIM1994021136440
HP:0000972HP:0000982Palmoplantar keratoderma1KDSR CL E G H2531617526Erythrokeratodermia variabilis et progressiva 4617526C4479620OMIM1994021136440
HP:0000972HP:0007613Spinous keratoses of palms and soles1KDSR CL E G H2531617526Erythrokeratodermia variabilis et progressiva 4617526C4479620OMIM1994021136440
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1KDSR CL E G H2531617526Erythrokeratodermia variabilis et progressiva 4617526C4479620OMIM1994021136440
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KDSR CL E G H2531617526Erythrokeratodermia variabilis et progressiva 4617526C4479620OMIM1994021136440
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KDSR CL E G H2531617526Erythrokeratodermia variabilis et progressiva 4617526C4479620OMIM1994021136440
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1KDSR CL E G H2531617526Erythrokeratodermia variabilis et progressiva 4617526C4479620OMIM1994021136440
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1KDSR CL E G H2531617526Erythrokeratodermia variabilis et progressiva 4617526C4479620OMIM1994021136440
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1KDSR CL E G H2531617526Erythrokeratodermia variabilis et progressiva 4617526C4479620OMIM1994021136440
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KDSR CL E G H2531617526Erythrokeratodermia variabilis et progressiva 4617526C4479620OMIM1994021136440
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1KDSR CL E G H2531617526Erythrokeratodermia variabilis et progressiva 4617526C4479620OMIM1994021136440
HP:0000972HP:0007613Spinous keratoses of palms and soles1KRT1 CL E G H3848113800Bullous ichthyosiform erythroderma113800C0079153OMIM11556412139350
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT1 CL E G H3848113800Bullous ichthyosiform erythroderma113800C0079153OMIM11556412139350
HP:0000972HP:0000982Palmoplantar keratoderma1KRT1 CL E G H3848113800Bullous ichthyosiform erythroderma113800C0079153OMIM11556412139350
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KRT1 CL E G H3848113800Bullous ichthyosiform erythroderma113800C0079153OMIM11556412139350
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1KRT1 CL E G H3848113800Bullous ichthyosiform erythroderma113800C0079153OMIM11556412139350
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KRT1 CL E G H3848113800Bullous ichthyosiform erythroderma113800C0079153OMIM11556412139350
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1KRT1 CL E G H3848113800Bullous ichthyosiform erythroderma113800C0079153OMIM11556412139350
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1KRT1 CL E G H3848113800Bullous ichthyosiform erythroderma113800C0079153OMIM11556412139350
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1KRT1 CL E G H3848113800Bullous ichthyosiform erythroderma113800C0079153OMIM11556412139350
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1KRT1 CL E G H3848113800Bullous ichthyosiform erythroderma113800C0079153OMIM11556412139350
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KRT1 CL E G H3848113800Bullous ichthyosiform erythroderma113800C0079153OMIM11556412139350
HP:0000972HP:0007613Spinous keratoses of palms and soles1KRT1 CL E G H3848607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11556412139350
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT1 CL E G H3848607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11556412139350
HP:0000972HP:0000982Palmoplantar keratoderma1KRT1 CL E G H3848607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11556412139350
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1KRT1 CL E G H3848607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11556412139350
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KRT1 CL E G H3848607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11556412139350
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KRT1 CL E G H3848607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11556412139350
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1KRT1 CL E G H3848607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11556412139350
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1KRT1 CL E G H3848607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11556412139350
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1KRT1 CL E G H3848607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11556412139350
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KRT1 CL E G H3848607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11556412139350
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1KRT1 CL E G H3848607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11556412139350
HP:0000972HP:0000982Palmoplantar keratoderma1KRT1 CL E G H3848144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11556412139350
HP:0000972HP:0007613Spinous keratoses of palms and soles1KRT1 CL E G H3848144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11556412139350
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT1 CL E G H3848144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11556412139350
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KRT1 CL E G H3848144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11556412139350
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KRT1 CL E G H3848144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11556412139350
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1KRT1 CL E G H3848144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11556412139350
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1KRT1 CL E G H3848144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11556412139350
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1KRT1 CL E G H3848144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11556412139350
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1KRT1 CL E G H3848144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11556412139350
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1KRT1 CL E G H3848144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11556412139350
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KRT1 CL E G H3848144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11556412139350
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT10 CL E G H3858113800Bullous ichthyosiform erythroderma113800C0079153OMIM11276413148080
HP:0000972HP:0000982Palmoplantar keratoderma1KRT10 CL E G H3858113800Bullous ichthyosiform erythroderma113800C0079153OMIM11276413148080
HP:0000972HP:0007613Spinous keratoses of palms and soles1KRT10 CL E G H3858113800Bullous ichthyosiform erythroderma113800C0079153OMIM11276413148080
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1KRT10 CL E G H3858113800Bullous ichthyosiform erythroderma113800C0079153OMIM11276413148080
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KRT10 CL E G H3858113800Bullous ichthyosiform erythroderma113800C0079153OMIM11276413148080
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KRT10 CL E G H3858113800Bullous ichthyosiform erythroderma113800C0079153OMIM11276413148080
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1KRT10 CL E G H3858113800Bullous ichthyosiform erythroderma113800C0079153OMIM11276413148080
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1KRT10 CL E G H3858113800Bullous ichthyosiform erythroderma113800C0079153OMIM11276413148080
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1KRT10 CL E G H3858113800Bullous ichthyosiform erythroderma113800C0079153OMIM11276413148080
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KRT10 CL E G H3858113800Bullous ichthyosiform erythroderma113800C0079153OMIM11276413148080
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1KRT10 CL E G H3858113800Bullous ichthyosiform erythroderma113800C0079153OMIM11276413148080
HP:0000972HP:0000982Palmoplantar keratoderma1KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM11276413148080
HP:0000972HP:0007613Spinous keratoses of palms and soles1KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM11276413148080
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM11276413148080
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM11276413148080
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM11276413148080
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM11276413148080
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM11276413148080
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM11276413148080
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM11276413148080
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM11276413148080
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM11276413148080
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT10 CL E G H3858607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11276413148080
HP:0000972HP:0000982Palmoplantar keratoderma1KRT10 CL E G H3858607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11276413148080
HP:0000972HP:0007613Spinous keratoses of palms and soles1KRT10 CL E G H3858607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11276413148080
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1KRT10 CL E G H3858607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11276413148080
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KRT10 CL E G H3858607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11276413148080
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KRT10 CL E G H3858607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11276413148080
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1KRT10 CL E G H3858607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11276413148080
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1KRT10 CL E G H3858607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11276413148080
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1KRT10 CL E G H3858607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11276413148080
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KRT10 CL E G H3858607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11276413148080
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1KRT10 CL E G H3858607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis607602C1843463OMIM11276413148080
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT14 CL E G H3861125595Dermatopathia pigmentosa reticularis125595C0406778OMIM11676416148066
HP:0000972HP:0000982Palmoplantar keratoderma1KRT14 CL E G H3861125595Dermatopathia pigmentosa reticularis125595C0406778OMIM11676416148066
HP:0000972HP:0007613Spinous keratoses of palms and soles1KRT14 CL E G H3861125595Dermatopathia pigmentosa reticularis125595C0406778OMIM11676416148066
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KRT14 CL E G H3861125595Dermatopathia pigmentosa reticularis125595C0406778OMIM11676416148066
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KRT14 CL E G H3861125595Dermatopathia pigmentosa reticularis125595C0406778OMIM11676416148066
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1KRT14 CL E G H3861125595Dermatopathia pigmentosa reticularis125595C0406778OMIM11676416148066
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1KRT14 CL E G H3861125595Dermatopathia pigmentosa reticularis125595C0406778OMIM11676416148066
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1KRT14 CL E G H3861125595Dermatopathia pigmentosa reticularis125595C0406778OMIM11676416148066
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1KRT14 CL E G H3861125595Dermatopathia pigmentosa reticularis125595C0406778OMIM11676416148066
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KRT14 CL E G H3861125595Dermatopathia pigmentosa reticularis125595C0406778OMIM11676416148066
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1KRT14 CL E G H3861125595Dermatopathia pigmentosa reticularis125595C0406778OMIM11676416148066
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11676416148066
HP:0000972HP:0000982Palmoplantar keratoderma1KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11676416148066
HP:0000972HP:0007613Spinous keratoses of palms and soles1KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11676416148066
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11676416148066
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11676416148066
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11676416148066
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11676416148066
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11676416148066
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11676416148066
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11676416148066
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1KRT14 CL E G H3861131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM11676416148066
HP:0000972HP:0007613Spinous keratoses of palms and soles1KRT14 CL E G H3861131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM11676416148066
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT14 CL E G H3861131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM11676416148066
HP:0000972HP:0000982Palmoplantar keratoderma1KRT14 CL E G H3861131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM11676416148066
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1KRT14 CL E G H3861131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM11676416148066
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KRT14 CL E G H3861131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM11676416148066
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KRT14 CL E G H3861131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM11676416148066
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1KRT14 CL E G H3861131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM11676416148066
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1KRT14 CL E G H3861131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM11676416148066
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1KRT14 CL E G H3861131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM11676416148066
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KRT14 CL E G H3861131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM11676416148066
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1KRT14 CL E G H3861131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM11676416148066
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT16 CL E G H3868167200Pachyonychia congenita 1167200C1706595OMIM1726423148067
HP:0000972HP:0000982Palmoplantar keratoderma1KRT16 CL E G H3868167200Pachyonychia congenita 1167200C1706595OMIM1726423148067
HP:0000972HP:0007613Spinous keratoses of palms and soles1KRT16 CL E G H3868167200Pachyonychia congenita 1167200C1706595OMIM1726423148067
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1KRT16 CL E G H3868167200Pachyonychia congenita 1167200C1706595OMIM1726423148067
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KRT16 CL E G H3868167200Pachyonychia congenita 1167200C1706595OMIM1726423148067
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KRT16 CL E G H3868167200Pachyonychia congenita 1167200C1706595OMIM1726423148067
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1KRT16 CL E G H3868167200Pachyonychia congenita 1167200C1706595OMIM1726423148067
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1KRT16 CL E G H3868167200Pachyonychia congenita 1167200C1706595OMIM1726423148067
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1KRT16 CL E G H3868167200Pachyonychia congenita 1167200C1706595OMIM1726423148067
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KRT16 CL E G H3868167200Pachyonychia congenita 1167200C1706595OMIM1726423148067
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1KRT16 CL E G H3868167200Pachyonychia congenita 1167200C1706595OMIM1726423148067
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT17 CL E G H3872167210Pachyonychia congenita 2167210C1721007OMIM1696427148069
HP:0000972HP:0000982Palmoplantar keratoderma1KRT17 CL E G H3872167210Pachyonychia congenita 2167210C1721007OMIM1696427148069
HP:0000972HP:0007613Spinous keratoses of palms and soles1KRT17 CL E G H3872167210Pachyonychia congenita 2167210C1721007OMIM1696427148069
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1KRT17 CL E G H3872167210Pachyonychia congenita 2167210C1721007OMIM1696427148069
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KRT17 CL E G H3872167210Pachyonychia congenita 2167210C1721007OMIM1696427148069
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KRT17 CL E G H3872167210Pachyonychia congenita 2167210C1721007OMIM1696427148069
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1KRT17 CL E G H3872167210Pachyonychia congenita 2167210C1721007OMIM1696427148069
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1KRT17 CL E G H3872167210Pachyonychia congenita 2167210C1721007OMIM1696427148069
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1KRT17 CL E G H3872167210Pachyonychia congenita 2167210C1721007OMIM1696427148069
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KRT17 CL E G H3872167210Pachyonychia congenita 2167210C1721007OMIM1696427148069
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1KRT17 CL E G H3872167210Pachyonychia congenita 2167210C1721007OMIM1696427148069
HP:0000972HP:0000982Palmoplantar keratoderma1KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM12586442148040
HP:0000972HP:0007613Spinous keratoses of palms and soles1KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM12586442148040
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM12586442148040
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM12586442148040
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM12586442148040
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM12586442148040
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM12586442148040
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM12586442148040
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM12586442148040
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM12586442148040
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1KRT5 CL E G H3852131760Epidermolysis bullosa herpetiformis, Dowling-Meara131760C0079295OMIM12586442148040
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT5 CL E G H3852131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM12586442148040
HP:0000972HP:0000982Palmoplantar keratoderma1KRT5 CL E G H3852131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM12586442148040
HP:0000972HP:0007613Spinous keratoses of palms and soles1KRT5 CL E G H3852131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM12586442148040
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1KRT5 CL E G H3852131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM12586442148040
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KRT5 CL E G H3852131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM12586442148040
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KRT5 CL E G H3852131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM12586442148040
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1KRT5 CL E G H3852131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM12586442148040
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1KRT5 CL E G H3852131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM12586442148040
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1KRT5 CL E G H3852131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM12586442148040
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KRT5 CL E G H3852131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM12586442148040
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1KRT5 CL E G H3852131900Epidermolysis bullosa simplex, Koebner type131900C0079299OMIM12586442148040
HP:0000972HP:0007613Spinous keratoses of palms and soles1KRT83 CL E G H3889617756ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5617756C4540331OMIM11256460602765
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT83 CL E G H3889617756ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5617756C4540331OMIM11256460602765
HP:0000972HP:0000982Palmoplantar keratoderma1KRT83 CL E G H3889617756ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5617756C4540331OMIM11256460602765
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KRT83 CL E G H3889617756ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5617756C4540331OMIM11256460602765
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1KRT83 CL E G H3889617756ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5617756C4540331OMIM11256460602765
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KRT83 CL E G H3889617756ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5617756C4540331OMIM11256460602765
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1KRT83 CL E G H3889617756ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5617756C4540331OMIM11256460602765
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1KRT83 CL E G H3889617756ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5617756C4540331OMIM11256460602765
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1KRT83 CL E G H3889617756ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5617756C4540331OMIM11256460602765
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1KRT83 CL E G H3889617756ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5617756C4540331OMIM11256460602765
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KRT83 CL E G H3889617756ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5617756C4540331OMIM11256460602765
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1KRT9 CL E G H3857144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11376447607606
HP:0000972HP:0000982Palmoplantar keratoderma1KRT9 CL E G H3857144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11376447607606
HP:0000972HP:0007613Spinous keratoses of palms and soles1KRT9 CL E G H3857144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11376447607606
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1KRT9 CL E G H3857144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11376447607606
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1KRT9 CL E G H3857144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11376447607606
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1KRT9 CL E G H3857144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11376447607606
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1KRT9 CL E G H3857144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11376447607606
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1KRT9 CL E G H3857144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11376447607606
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1KRT9 CL E G H3857144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11376447607606
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1KRT9 CL E G H3857144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11376447607606
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1KRT9 CL E G H3857144200Localized epidermolytic hyperkeratosis144200C1721006OMIM11376447607606
HP:0000972HP:0000982Palmoplantar keratoderma1MBTPS2 CL E G H51360300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked300918C3806745OMIM124815455300294
HP:0000972HP:0007613Spinous keratoses of palms and soles1MBTPS2 CL E G H51360300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked300918C3806745OMIM124815455300294
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1MBTPS2 CL E G H51360300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked300918C3806745OMIM124815455300294
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1MBTPS2 CL E G H51360300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked300918C3806745OMIM124815455300294
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1MBTPS2 CL E G H51360300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked300918C3806745OMIM124815455300294
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1MBTPS2 CL E G H51360300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked300918C3806745OMIM124815455300294
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1MBTPS2 CL E G H51360300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked300918C3806745OMIM124815455300294
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1MBTPS2 CL E G H51360300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked300918C3806745OMIM124815455300294
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1MBTPS2 CL E G H51360300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked300918C3806745OMIM124815455300294
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1MBTPS2 CL E G H51360300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked300918C3806745OMIM124815455300294
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1MBTPS2 CL E G H51360300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked300918C3806745OMIM124815455300294
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000972HP:0000982Palmoplantar keratoderma1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000972HP:0007613Spinous keratoses of palms and soles1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0000972HP:0000982Palmoplantar keratoderma1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0000972HP:0007613Spinous keratoses of palms and soles1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1PIGL CL E G H9487280000Zunich neuroectodermal syndrome280000C1848392OMIM11278966605947
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0000972HP:0000982Palmoplantar keratoderma1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0000972HP:0007613Spinous keratoses of palms and soles1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM19758975171834
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM141529069601282
HP:0000972HP:0000982Palmoplantar keratoderma1PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM141529069601282
HP:0000972HP:0007613Spinous keratoses of palms and soles1PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM141529069601282
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM141529069601282
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM141529069601282
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM141529069601282
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM141529069601282
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM141529069601282
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM141529069601282
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM141529069601282
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM141529069601282
HP:0000972HP:0000982Palmoplantar keratoderma1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0000972HP:0007613Spinous keratoses of palms and soles1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM127509588601728
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1SDR9C7 CL E G H121214617574ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13617574C4539772OMIM13629958609769
HP:0000972HP:0000982Palmoplantar keratoderma1SDR9C7 CL E G H121214617574ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13617574C4539772OMIM13629958609769
HP:0000972HP:0007613Spinous keratoses of palms and soles1SDR9C7 CL E G H121214617574ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13617574C4539772OMIM13629958609769
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1SDR9C7 CL E G H121214617574ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13617574C4539772OMIM13629958609769
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1SDR9C7 CL E G H121214617574ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13617574C4539772OMIM13629958609769
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1SDR9C7 CL E G H121214617574ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13617574C4539772OMIM13629958609769
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1SDR9C7 CL E G H121214617574ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13617574C4539772OMIM13629958609769
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1SDR9C7 CL E G H121214617574ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13617574C4539772OMIM13629958609769
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1SDR9C7 CL E G H121214617574ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13617574C4539772OMIM13629958609769
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1SDR9C7 CL E G H121214617574ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13617574C4539772OMIM13629958609769
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1SDR9C7 CL E G H121214617574ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13617574C4539772OMIM13629958609769
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000972HP:0000972Palmoplantar hyperkeratosis0NECTIN1 CL E G H58183253Limb dystoniaORPHA02089706600644
HP:0000972HP:0000972Palmoplantar hyperkeratosis0TGM1 CL E G H7051242300Autosomal recessive congenital ichthyosis 1242300C3536797OMIM062011777190195
HP:0000972HP:0007613Spinous keratoses of palms and soles1NECTIN1 CL E G H58183253Limb dystoniaORPHA02089706600644
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1NECTIN1 CL E G H58183253Limb dystoniaORPHA02089706600644
HP:0000972HP:0000982Palmoplantar keratoderma1NECTIN1 CL E G H58183253Limb dystoniaORPHA02089706600644
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1NECTIN1 CL E G H58183253Limb dystoniaORPHA02089706600644
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1NECTIN1 CL E G H58183253Limb dystoniaORPHA02089706600644
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1NECTIN1 CL E G H58183253Limb dystoniaORPHA02089706600644
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1NECTIN1 CL E G H58183253Limb dystoniaORPHA02089706600644
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1NECTIN1 CL E G H58183253Limb dystoniaORPHA02089706600644
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1NECTIN1 CL E G H58183253Limb dystoniaORPHA02089706600644
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1NECTIN1 CL E G H58183253Limb dystoniaORPHA02089706600644
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1NECTIN1 CL E G H58183253Limb dystoniaORPHA02089706600644
HP:0000972HP:0007447Diffuse palmoplantar hyperkeratosis1TGM1 CL E G H7051242300Autosomal recessive congenital ichthyosis 1242300C3536797OMIM062011777190195
HP:0000972HP:0000982Palmoplantar keratoderma1TGM1 CL E G H7051242300Autosomal recessive congenital ichthyosis 1242300C3536797OMIM062011777190195
HP:0000972HP:0007613Spinous keratoses of palms and soles1TGM1 CL E G H7051242300Autosomal recessive congenital ichthyosis 1242300C3536797OMIM062011777190195
HP:0000972HP:0007553Congenital symmetrical palmoplantar keratosis1TGM1 CL E G H7051242300Autosomal recessive congenital ichthyosis 1242300C3536797OMIM062011777190195
HP:0000972HP:0007404Nonepidermolytic palmoplantar hyperkeratosis1TGM1 CL E G H7051242300Autosomal recessive congenital ichthyosis 1242300C3536797OMIM062011777190195
HP:0000972HP:0007530Punctate palmoplantar hyperkeratosis1TGM1 CL E G H7051242300Autosomal recessive congenital ichthyosis 1242300C3536797OMIM062011777190195
HP:0000972HP:0007545Congenital palmoplantar hyperkeratosis1TGM1 CL E G H7051242300Autosomal recessive congenital ichthyosis 1242300C3536797OMIM062011777190195
HP:0000972HP:0007465Honeycomb palmoplantar hyperkeratosis1TGM1 CL E G H7051242300Autosomal recessive congenital ichthyosis 1242300C3536797OMIM062011777190195
HP:0000972HP:0005588Patchy palmoplantar hyperkeratosis1TGM1 CL E G H7051242300Autosomal recessive congenital ichthyosis 1242300C3536797OMIM062011777190195
HP:0000972HP:0007497Focal friction-related palmoplantar hyperkeratosis1TGM1 CL E G H7051242300Autosomal recessive congenital ichthyosis 1242300C3536797OMIM062011777190195
HP:0000972HP:0007548Palmoplantar keratosis with erythema and scale1TGM1 CL E G H7051242300Autosomal recessive congenital ichthyosis 1242300C3536797OMIM062011777190195


Genes (145) :AAAS AAGAB ABCA12 ABCC9 ACTC1 ACTN2 AKT1 ALOX12B ALOXE3 ANKRD1 ATP2A2 BAG3 BRAF CARD14 CAST CD28 CERS3 COG6 COL14A1 COL17A1 CRYAB CSRP3 CSTA CTC1 CTLA4 CTSC CYP4F22 DES DKC1 DMD DOLK DSC2 DSG1 DSG2 DSP ENPP1 FERMT1 FGFR2 FHL2 FKTN GATAD1 GJA1 GJB2 GJB3 GJB4 GJB6 GMPPA HPGD ITGB4 JUP KANK2 KDSR KLLN KRAS KRT1 KRT10 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT6C KRT83 KRT9 LAMA3 LAMA4 LAMB3 LAMC2 LDB3 LEMD3 LOR MAP2K1 MAP2K2 MBTPS2 MCOLN1 MYBPC3 MYH6 MYH7 MYPN NEBL NECTIN1 NEXN NHP2 NIPAL4 NLRP1 NOP10 PARN PEPD PIGL PIK3CA PKP1 PLEC PLN PNPLA1 POMP PPCS PRDM16 PSEN1 PSEN2 PTEN RAF1 RBM20 RECQL4 RHBDF2 RSPO1 RTEL1 SCN5A SDHA SDHB SDHC SDHD SDR9C7 SEC23B SERPINB7 SGCD SLCO2A1 SLURP1 SMARCAD1 SNAP29 TAF1A TAT TAZ TCAP TERC TERT TGM1 TINF2 TMPO TNFRSF1B TNNC1 TNNI3 TNNT2 TP63 TPM1 TRAPPC11 TRNS1 TRPV3 TTN TXNRD2 USB1 VCL WNT10A WRAP53

Diseases (125) :231550 615109 615328 678 245000 173650 1010 104100 148350 129500 259100 617526 113800 607602 144200 609165 125595 131760 131900 167200 167210 617756 300918 225060 3253 280000 615108 226670 158350 617574 242300 869 79501 148600 79394 601277 154 201 242100 606545 218 1340 2897 173200 616295 3162 79402 607936 1775 245010 604777 610476 50942 615508 148700 65282 615821 605676 612908 607655 615522 2908 1555 617525 2710 317 2698 494 477 2202 602540 124500 133200 617524 189 2796 34217 601214 616099 316 312 2199 607654 600962 89838 79400 79399 79397 79396 161000 2309 613000 455 131960 615726 615728 615735 1306 79395 659 308800 578 612281 615225 742 158668 615024 281201 601952 221016 2198 148500 85112 610644 140966 248300 384 609528 28378 1071 106260 614594 616400 50944 224750
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.