Human Phenotype Ontology 
Grandparent Node:
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Thickened skin (HP:0001072)help
Parent Node:
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Epidermal thickening (HP:0011368)help
..Starting node
..expand
Hyperkeratosis (HP:0000962)help
Term ID: 962
Name: Hyperkeratosis
Synonym:
Definition: Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Comments:
Reference: HP:0000962
Genes and Diseases:
 
       Child Nodes:
........expandGingival hyperkeratosis (HP:0000222) help
........expandPalmoplantar keratoderma (HP:0000982) help
................... HP:0005588 Patchy palmoplantar keratoderma
................... HP:0007404 Nonepidermolytic palmoplantar keratoderma
................... HP:0007435 Diffuse palmoplantar keratoderma
................... HP:0007465 Honeycomb palmoplantar keratoderma
................... HP:0007597 Congenital palmoplantar keratodermia
........expandGeneralized hyperkeratosis (HP:0005595) help
........expandHyperkeratosis with erythema (HP:0007390) help
........expandHyperkeratosis over edematous areas (HP:0007448) help
........expandPerifollicular hyperkeratosis (HP:0007468) help
........expandLinear arrays of macular hyperkeratoses in flexural areas (HP:0007490) help
........expandStreaks of hyperkeratosis along each finger onto the palm (HP:0007501) help
........expandFollicular hyperkeratosis (HP:0007502) help
........expandEpidermal hyperkeratosis (HP:0007543) help
........expandPlantar hyperkeratosis (HP:0007556) help
................... HP:0000972 Palmoplantar hyperkeratosis
........expandHyperkeratosis lenticularis perstans (HP:0007570) help
........expandSubungual hyperkeratosis (HP:0008392) help
........expandCircumungual hyperkeratosis (HP:0008399) help
........expandSubungual hyperkeratotic fragments (HP:0008410) help
........expandPalmar hyperkeratosis (HP:0010765) help
................... HP:0000972 Palmoplantar hyperkeratosis
................... HP:0007508 Punctate palmar hyperkeratosis
........expandOrthokeratotic hyperkeratosis (HP:0025080) help
........expandCobblestone-like hyperkeratosis (HP:0031288) help
........expandHyperparakeratosis (HP:0040009) help
........expandHyperkeratosis pilaris (HP:0040180) help
........expandHyperkeratotic papule (HP:0045059) help

 Sister Nodes: 
..expandAcanthosis nigricans (HP:0000956) help
..expandAcrokeratosis (HP:0200016) help
..expandGeneralized keratosis follicularis (HP:0007439) help
..expandHypergranulosis (HP:0025114) help
..expandIchthyosis (HP:0008064) help
..expandOrthokeratosis (HP:0040162) help
..expandParakeratosis (HP:0001036) help
..expandPorokeratosis (HP:0200044) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000962HP:0000962Hyperkeratosis0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0000962HP:0000962Hyperkeratosis0AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0000962HP:0000962Hyperkeratosis0AAGAB CL E G H7971925662OMIM:148600Palmoplantar keratoderma, punctate type IA7
HP:0000962HP:0000962Hyperkeratosis0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0000962HP:0000962Hyperkeratosis0ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythroderma130
HP:0000962HP:0000962Hyperkeratosis0ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosisHP:0040281 - Very frequent130
HP:0000962HP:0000962Hyperkeratosis0ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A130
HP:0000962HP:0000962Hyperkeratosis0ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent130
HP:0000962HP:0000962Hyperkeratosis0ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathy254
HP:0000962HP:0000962Hyperkeratosis0ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathy208
HP:0000962HP:0000962Hyperkeratosis0ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathy307
HP:0000962HP:0000962Hyperkeratosis0ADAM10 CL E G H102188OMIM:615537Reticulate acropigmentation of kitamura.7
HP:0000962HP:0000962Hyperkeratosis0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive165
HP:0000962HP:0000962Hyperkeratosis0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0000962HP:0000962Hyperkeratosis0AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0000962HP:0000962Hyperkeratosis0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0000962HP:0000962Hyperkeratosis0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic.54
HP:0000962HP:0000962Hyperkeratosis0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040281 - Very frequent87
HP:0000962HP:0000962Hyperkeratosis0ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythroderma75
HP:0000962HP:0000962Hyperkeratosis0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2.75
HP:0000962HP:0000962Hyperkeratosis0ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent75
HP:0000962HP:0000962Hyperkeratosis0ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythroderma63
HP:0000962HP:0000962Hyperkeratosis0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2.63
HP:0000962HP:0000962Hyperkeratosis0ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 3.63
HP:0000962HP:0000962Hyperkeratosis0ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent63
HP:0000962HP:0000962Hyperkeratosis0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 12
HP:0000962HP:0000962Hyperkeratosis0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0000962HP:0000962Hyperkeratosis0ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathy95
HP:0000962HP:0000962Hyperkeratosis0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000962HP:0000962Hyperkeratosis0AP1B1 CL E G H162554ORPHA:171851MEDNIK syndromeHP:0040281 - Very frequent
HP:0000962HP:0000962Hyperkeratosis0AP1S1 CL E G H1174559ORPHA:171851MEDNIK syndromeHP:0040281 - Very frequent1
HP:0000962HP:0000962Hyperkeratosis0AQP5 CL E G H362638ORPHA:2337Non-epidermolytic palmoplantar keratoderma5
HP:0000962HP:0000962Hyperkeratosis0AQP5 CL E G H362638OMIM:600231PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB5
HP:0000962HP:0000962Hyperkeratosis0ASPRV1 CL E G H15151626321OMIM:146750Ichthyosis, lamellar, autosomal dominant.1
HP:0000962HP:0000962Hyperkeratosis0ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent1
HP:0000962HP:0000962Hyperkeratosis0ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent71
HP:0000962HP:0000962Hyperkeratosis0ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent5
HP:0000962HP:0000962Hyperkeratosis0ATL3 CL E G H2592324526OMIM:615632Neuropathy, hereditary sensory, type IF.5
HP:0000962HP:0000962Hyperkeratosis0ATP2A2 CL E G H488812OMIM:101900Acrokeratosis verruciformis.86
HP:0000962HP:0000962Hyperkeratosis0ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of HopfHP:0040281 - Very frequent86
HP:0000962HP:0000962Hyperkeratosis0ATP2A2 CL E G H488812ORPHA:218Darier disease86
HP:0000962HP:0000962Hyperkeratosis0ATP2A2 CL E G H488812OMIM:124200Darier-White disease86
HP:0000962HP:0000962Hyperkeratosis0ATP2C1 CL E G H2703213211ORPHA:2841Familial benign chronic pemphigusHP:0040281 - Very frequent56
HP:0000962HP:0000962Hyperkeratosis0BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathy204
HP:0000962HP:0000962Hyperkeratosis0BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathy
HP:0000962HP:0000962Hyperkeratosis0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0000962HP:0000962Hyperkeratosis0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0000962HP:0000962Hyperkeratosis0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0000962HP:0000962Hyperkeratosis0CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathy
HP:0000962HP:0000962Hyperkeratosis0CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris33
HP:0000962HP:0000962Hyperkeratosis0CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilaris33
HP:0000962HP:0000962Hyperkeratosis0CARD14 CL E G H7909216446OMIM:602723PSORIASIS 2; PSORS233
HP:0000962HP:0000962Hyperkeratosis0CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.4
HP:0000962HP:0000962Hyperkeratosis0CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoidesHP:0040283 - Occasional
HP:0000962HP:0000962Hyperkeratosis0CD28 CL E G H9401653ORPHA:3162Sézary syndrome
HP:0000962HP:0000962Hyperkeratosis0CDH3 CL E G H10011762ORPHA:1573Hypotrichosis with juvenile macular degenerationHP:0040283 - Occasional87
HP:0000962HP:0000962Hyperkeratosis0CDSN CL E G H10411802ORPHA:90368Hypotrichosis simplex of the scalp7
HP:0000962HP:0000962Hyperkeratosis0CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythroderma5
HP:0000962HP:0000962Hyperkeratosis0CERS3 CL E G H20421923752OMIM:615023Ichthyosis, congenital, autosomal recessive 95
HP:0000962HP:0000962Hyperkeratosis0CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0000962HP:0000962Hyperkeratosis0CLEC7A CL E G H6458114558ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent3
HP:0000962HP:0000962Hyperkeratosis0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0000962HP:0000962Hyperkeratosis0COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome71
HP:0000962HP:0000962Hyperkeratosis0COG6 CL E G H5751118621OMIM:615328Shaheen syndrome71
HP:0000962HP:0000962Hyperkeratosis0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040283 - Occasional65
HP:0000962HP:0000962Hyperkeratosis0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0000962HP:0000962Hyperkeratosis0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0000962HP:0000962Hyperkeratosis0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040283 - Occasional442
HP:0000962HP:0000962Hyperkeratosis0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0000962HP:0000962Hyperkeratosis0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040283 - Occasional478
HP:0000962HP:0000962Hyperkeratosis0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0000962HP:0000962Hyperkeratosis0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040283 - Occasional702
HP:0000962HP:0000962Hyperkeratosis0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0000962HP:0000962Hyperkeratosis0COL7A1 CL E G H12942214ORPHA:89843Dystrophic epidermolysis bullosa pruriginosaHP:0040283 - Occasional263
HP:0000962HP:0000962Hyperkeratosis0COL7A1 CL E G H12942214OMIM:131850Epidermolysis bullosa dystrophica, pretibial.263
HP:0000962HP:0000962Hyperkeratosis0COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral form263
HP:0000962HP:0000962Hyperkeratosis0COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial form263
HP:0000962HP:0000962Hyperkeratosis0CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathy46
HP:0000962HP:0000962Hyperkeratosis0CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathy104
HP:0000962HP:0000962Hyperkeratosis0CSTA CL E G H14752481OMIM:607936Peeling skin syndrome 4.4
HP:0000962HP:0000962Hyperkeratosis0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0000962HP:0000962Hyperkeratosis0CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoidesHP:0040283 - Occasional10
HP:0000962HP:0000962Hyperkeratosis0CTLA4 CL E G H14932505ORPHA:3162Sézary syndrome10
HP:0000962HP:0000962Hyperkeratosis0CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome50
HP:0000962HP:0000962Hyperkeratosis0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0000962HP:0000962Hyperkeratosis0CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome50
HP:0000962HP:0000962Hyperkeratosis0CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 554
HP:0000962HP:0000962Hyperkeratosis0CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent54
HP:0000962HP:0000962Hyperkeratosis0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent30
HP:0000962HP:0000962Hyperkeratosis0DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0000962HP:0000962Hyperkeratosis0DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathy263
HP:0000962HP:0000962Hyperkeratosis0DIP2B CL E G H5760929284OMIM:136630Mental retardation, Fra12a type.4
HP:0000962HP:0000962Hyperkeratosis0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0000962HP:0000962Hyperkeratosis0DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathy1496
HP:0000962HP:0000962Hyperkeratosis0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0000962HP:0000962Hyperkeratosis0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im55
HP:0000962HP:0000962Hyperkeratosis0DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathy55
HP:0000962HP:0000962Hyperkeratosis0DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11268
HP:0000962HP:0000962Hyperkeratosis0DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0000962HP:0000962Hyperkeratosis0DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige16
HP:0000962HP:0000962Hyperkeratosis0DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0000962HP:0000962Hyperkeratosis0DSG1 CL E G H18283048ORPHA:50942Striate palmoplantar keratoderma16
HP:0000962HP:0000962Hyperkeratosis0DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathy358
HP:0000962HP:0000962Hyperkeratosis0DSG4 CL E G H14740921307OMIM:607903Hypotrichosis 663
HP:0000962HP:0000962Hyperkeratosis0DSG4 CL E G H14740921307ORPHA:573Monilethrix63
HP:0000962HP:0000962Hyperkeratosis0DSP CL E G H18323052OMIM:605676Cardiomyopathy, dilated, with woolly hair and keratoderma747
HP:0000962HP:0000962Hyperkeratosis0DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis.747
HP:0000962HP:0000962Hyperkeratosis0DSP CL E G H18323052ORPHA:65282Carvajal syndrome747
HP:0000962HP:0000962Hyperkeratosis0DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathy747
HP:0000962HP:0000962Hyperkeratosis0DSP CL E G H18323052OMIM:612908Keratosis palmoplantaris striata II747
HP:0000962HP:0000962Hyperkeratosis0DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome747
HP:0000962HP:0000962Hyperkeratosis0DSP CL E G H18323052ORPHA:50942Striate palmoplantar keratoderma747
HP:0000962HP:0000962Hyperkeratosis0ECM1 CL E G H18933153ORPHA:530Lipoid proteinosisHP:0040282 - Frequent14
HP:0000962HP:0000962Hyperkeratosis0ECM1 CL E G H18933153OMIM:247100Urbach-Wiethe disease14
HP:0000962HP:0000962Hyperkeratosis0ELMO2 CL E G H6391617233ORPHA:3019Ramon syndromeHP:0040283 - Occasional3
HP:0000962HP:0000962Hyperkeratosis0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000962HP:0000962Hyperkeratosis0ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardation.62
HP:0000962HP:0000962Hyperkeratosis0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 34.62
HP:0000962HP:0000962Hyperkeratosis0ENPP1 CL E G H51673356OMIM:615522Cole disease.151
HP:0000962HP:0000962Hyperkeratosis0EPHB4 CL E G H20503395ORPHA:90186Meige disease3
HP:0000962HP:0000962Hyperkeratosis0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0000962HP:0000962Hyperkeratosis0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent106
HP:0000962HP:0000962Hyperkeratosis0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent54
HP:0000962HP:0000962Hyperkeratosis0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent158
HP:0000962HP:0000962Hyperkeratosis0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent83
HP:0000962HP:0000962Hyperkeratosis0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040283 - Occasional36
HP:0000962HP:0000962Hyperkeratosis0EXPH5 CL E G H2308630578OMIM:615028Epidermolysis bullosa, nonspecific, autosomal recessive.2
HP:0000962HP:0000962Hyperkeratosis0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040283 - Occasional136
HP:0000962HP:0000962Hyperkeratosis0FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0000962HP:0000962Hyperkeratosis0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0000962HP:0000962Hyperkeratosis0FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathy36
HP:0000962HP:0000962Hyperkeratosis0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000962HP:0000962Hyperkeratosis0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0000962HP:0000962Hyperkeratosis0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency13
HP:0000962HP:0000962Hyperkeratosis0FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathy184
HP:0000962HP:0000962Hyperkeratosis0FLG CL E G H23123748ORPHA:461Recessive X-linked ichthyosisHP:0040281 - Very frequent63
HP:0000962HP:0000962Hyperkeratosis0FLT4 CL E G H23243767OMIM:153100Lymphatic malformation 190
HP:0000962HP:0000962Hyperkeratosis0FLT4 CL E G H23243767ORPHA:79452Milroy diseaseHP:0040282 - Frequent90
HP:0000962HP:0000962Hyperkeratosis0FUCA1 CL E G H25174006ORPHA:349Fucosidosis43
HP:0000962HP:0000962Hyperkeratosis0GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathy35
HP:0000962HP:0000962Hyperkeratosis0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0000962HP:0000962Hyperkeratosis0GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0000962HP:0000962Hyperkeratosis0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent68
HP:0000962HP:0000962Hyperkeratosis0GJA1 CL E G H26974274OMIM:617525Erythrokeratodermia variabilis et progressiva 3.68
HP:0000962HP:0000962Hyperkeratosis0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0000962HP:0000962Hyperkeratosis0GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0000962HP:0000962Hyperkeratosis0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0000962HP:0000962Hyperkeratosis0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0000962HP:0000962Hyperkeratosis0GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilansHP:0040281 - Very frequent199
HP:0000962HP:0000962Hyperkeratosis0GJB2 CL E G H27064284OMIM:148350Keratoderma, palmoplantar, with deafness199
HP:0000962HP:0000962Hyperkeratosis0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0000962HP:0000962Hyperkeratosis0GJB2 CL E G H27064284OMIM:149200Knuckle pads, leukonychia, and sensorineural deafness199
HP:0000962HP:0000962Hyperkeratosis0GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndromeHP:0040281 - Very frequent199
HP:0000962HP:0000962Hyperkeratosis0GJB2 CL E G H27064284ORPHA:2202Palmoplantar keratoderma-deafness syndromeHP:0040281 - Very frequent199
HP:0000962HP:0000962Hyperkeratosis0GJB2 CL E G H27064284OMIM:124500VOHWINKEL SYNDROME; VOWNKL199
HP:0000962HP:0000962Hyperkeratosis0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent74
HP:0000962HP:0000962Hyperkeratosis0GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 174
HP:0000962HP:0000962Hyperkeratosis0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent12
HP:0000962HP:0000962Hyperkeratosis0GJB4 CL E G H1275344286OMIM:617524Erythrokeratodermia variabilis et progressiva 212
HP:0000962HP:0000962Hyperkeratosis0GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0000962HP:0000962Hyperkeratosis0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0000962HP:0000962Hyperkeratosis0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0000962HP:0000962Hyperkeratosis0GJC2 CL E G H5716517494ORPHA:79452Milroy diseaseHP:0040282 - Frequent37
HP:0000962HP:0000962Hyperkeratosis0GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040281 - Very frequent291
HP:0000962HP:0000962Hyperkeratosis0GLS CL E G H27444331OMIM:618339Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development.
HP:0000962HP:0000962Hyperkeratosis0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndromeHP:0040283 - Occasional24
HP:0000962HP:0000962Hyperkeratosis0GMPPA CL E G H2992622923ORPHA:869Triple A syndrome24
HP:0000962HP:0000962Hyperkeratosis0GRHL2 CL E G H799772799OMIM:616029Ectodermal dysplasia/short stature syndrome.33
HP:0000962HP:0000962Hyperkeratosis0HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathy2
HP:0000962HP:0000962Hyperkeratosis0HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe typeHP:0040283 - Occasional2
HP:0000962HP:0000962Hyperkeratosis0HLA-B CL E G H31064932ORPHA:29207Reactive arthritisHP:0040281 - Very frequent4
HP:0000962HP:0000962Hyperkeratosis0HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndrome
HP:0000962HP:0000962Hyperkeratosis0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 155
HP:0000962HP:0000962Hyperkeratosis0HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0000962HP:0000962Hyperkeratosis0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040281 - Very frequent113
HP:0000962HP:0000962Hyperkeratosis0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040282 - Frequent52
HP:0000962HP:0000962Hyperkeratosis0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0000962HP:0000962Hyperkeratosis0IL17F CL E G H11274416404ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent14
HP:0000962HP:0000962Hyperkeratosis0IL17RA CL E G H237655985ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent196
HP:0000962HP:0000962Hyperkeratosis0IL17RC CL E G H8481818358ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent4
HP:0000962HP:0000962Hyperkeratosis0IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency40
HP:0000962HP:0000962Hyperkeratosis0INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0000962HP:0000962Hyperkeratosis0INSR CL E G H36436091ORPHA:2297Insulin-resistance syndrome type AHP:0040281 - Very frequent229
HP:0000962HP:0000962Hyperkeratosis0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040281 - Very frequent229
HP:0000962HP:0000962Hyperkeratosis0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0000962HP:0000962Hyperkeratosis0JUP CL E G H37286207ORPHA:34217Naxos disease222
HP:0000962HP:0000962Hyperkeratosis0JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0000962HP:0000962Hyperkeratosis0KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair1
HP:0000962HP:0000962Hyperkeratosis0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0000962HP:0000962Hyperkeratosis0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0000962HP:0000962Hyperkeratosis0KDF1 CL E G H12669526624OMIM:617337Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type.1
HP:0000962HP:0000962Hyperkeratosis0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040281 - Very frequent4
HP:0000962HP:0000962Hyperkeratosis0KDSR CL E G H25314021OMIM:617526Erythrokeratodermia variabilis et progressiva 4.4
HP:0000962HP:0000962Hyperkeratosis0KDSR CL E G H25314021ORPHA:316Progressive symmetric erythrokeratodermia4
HP:0000962HP:0000962Hyperkeratosis0KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive.9
HP:0000962HP:0000962Hyperkeratosis0KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0000962HP:0000962Hyperkeratosis0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0000962HP:0000962Hyperkeratosis0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0000962HP:0000962Hyperkeratosis0KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040281 - Very frequent100
HP:0000962HP:0000962Hyperkeratosis0KRT1 CL E G H38486412OMIM:113800Epidermolytic hyperkeratosis100
HP:0000962HP:0000962Hyperkeratosis0KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0000962HP:0000962Hyperkeratosis0KRT1 CL E G H38486412ORPHA:79503Ichthyosis hystrix of Curth-MacklinHP:0040281 - Very frequent100
HP:0000962HP:0000962Hyperkeratosis0KRT1 CL E G H38486412OMIM:607654KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3100
HP:0000962HP:0000962Hyperkeratosis0KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratoderma100
HP:0000962HP:0000962Hyperkeratosis0KRT1 CL E G H38486412OMIM:144200Palmoplantar keratoderma, epidermolytic100
HP:0000962HP:0000962Hyperkeratosis0KRT1 CL E G H38486412OMIM:600962PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK100
HP:0000962HP:0000962Hyperkeratosis0KRT1 CL E G H38486412ORPHA:50942Striate palmoplantar keratoderma100
HP:0000962HP:0000962Hyperkeratosis0KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040281 - Very frequent45
HP:0000962HP:0000962Hyperkeratosis0KRT10 CL E G H38586413OMIM:113800Epidermolytic hyperkeratosis45
HP:0000962HP:0000962Hyperkeratosis0KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular.45
HP:0000962HP:0000962Hyperkeratosis0KRT10 CL E G H38586413OMIM:607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis45
HP:0000962HP:0000962Hyperkeratosis0KRT13 CL E G H38606415OMIM:615785White sponge nevus 246
HP:0000962HP:0000962Hyperkeratosis0KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040281 - Very frequent110
HP:0000962HP:0000962Hyperkeratosis0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0000962HP:0000962Hyperkeratosis0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplexHP:0040282 - Frequent110
HP:0000962HP:0000962Hyperkeratosis0KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis110
HP:0000962HP:0000962Hyperkeratosis0KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation110
HP:0000962HP:0000962Hyperkeratosis0KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type110
HP:0000962HP:0000962Hyperkeratosis0KRT14 CL E G H38616416OMIM:131900Epidermolysis bullosa simplex, Koebner type110
HP:0000962HP:0000962Hyperkeratosis0KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplex110
HP:0000962HP:0000962Hyperkeratosis0KRT14 CL E G H38616416OMIM:161000Naegeli syndrome110
HP:0000962HP:0000962Hyperkeratosis0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0000962HP:0000962Hyperkeratosis0KRT16 CL E G H38686423ORPHA:2199Epidermolytic palmoplantar keratoderma27
HP:0000962HP:0000962Hyperkeratosis0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenita27
HP:0000962HP:0000962Hyperkeratosis0KRT16 CL E G H38686423OMIM:167200Pachyonychia congenita, type 127
HP:0000962HP:0000962Hyperkeratosis0KRT16 CL E G H38686423OMIM:613000Palmoplantar keratoderma, nonepidermolytic, focal 127
HP:0000962HP:0000962Hyperkeratosis0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenita23
HP:0000962HP:0000962Hyperkeratosis0KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 223
HP:0000962HP:0000962Hyperkeratosis0KRT2 CL E G H38496439ORPHA:455Superficial epidermolytic ichthyosis67
HP:0000962HP:0000962Hyperkeratosis0KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate formHP:0040281 - Very frequent173
HP:0000962HP:0000962Hyperkeratosis0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0000962HP:0000962Hyperkeratosis0KRT5 CL E G H38526442ORPHA:79145Dowling-Degos diseaseHP:0040282 - Frequent173
HP:0000962HP:0000962Hyperkeratosis0KRT5 CL E G H38526442OMIM:619555EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A173
HP:0000962HP:0000962Hyperkeratosis0KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation173
HP:0000962HP:0000962Hyperkeratosis0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0000962HP:0000962Hyperkeratosis0KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type173
HP:0000962HP:0000962Hyperkeratosis0KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplex173
HP:0000962HP:0000962Hyperkeratosis0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenita41
HP:0000962HP:0000962Hyperkeratosis0KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 3.41
HP:0000962HP:0000962Hyperkeratosis0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenita4
HP:0000962HP:0000962Hyperkeratosis0KRT6B CL E G H38546444OMIM:615728Pachyonychia congenita 4.4
HP:0000962HP:0000962Hyperkeratosis0KRT6C CL E G H28688720406OMIM:615735Palmoplantar keratoderma, nonepidermolytic, focal or diffuse4
HP:0000962HP:0000962Hyperkeratosis0KRT74 CL E G H12139128929ORPHA:90368Hypotrichosis simplex of the scalp5
HP:0000962HP:0000962Hyperkeratosis0KRT81 CL E G H38876458OMIM:158000MONILETHRIX3
HP:0000962HP:0000962Hyperkeratosis0KRT81 CL E G H38876458ORPHA:573Monilethrix3
HP:0000962HP:0000962Hyperkeratosis0KRT83 CL E G H38896460OMIM:617756Erythrokeratodermia variabilis et progressiva 5.65
HP:0000962HP:0000962Hyperkeratosis0KRT83 CL E G H38896460OMIM:158000MONILETHRIX65
HP:0000962HP:0000962Hyperkeratosis0KRT83 CL E G H38896460ORPHA:573Monilethrix65
HP:0000962HP:0000962Hyperkeratosis0KRT83 CL E G H38896460ORPHA:316Progressive symmetric erythrokeratodermia65
HP:0000962HP:0000962Hyperkeratosis0KRT86 CL E G H38926463OMIM:158000MONILETHRIX10
HP:0000962HP:0000962Hyperkeratosis0KRT86 CL E G H38926463ORPHA:573Monilethrix10
HP:0000962HP:0000962Hyperkeratosis0KRT9 CL E G H38576447ORPHA:2199Epidermolytic palmoplantar keratoderma66
HP:0000962HP:0000962Hyperkeratosis0KRT9 CL E G H38576447OMIM:144200Palmoplantar keratoderma, epidermolytic66
HP:0000962HP:0000962Hyperkeratosis0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:0000962HP:0000962Hyperkeratosis0LAMA4 CL E G H39106484ORPHA:154Familial isolated dilated cardiomyopathy279
HP:0000962HP:0000962Hyperkeratosis0LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type167
HP:0000962HP:0000962Hyperkeratosis0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:0000962HP:0000962Hyperkeratosis0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:0000962HP:0000962Hyperkeratosis0LDB3 CL E G H1115515710ORPHA:154Familial isolated dilated cardiomyopathy286
HP:0000962HP:0000962Hyperkeratosis0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0000962HP:0000962Hyperkeratosis0LIPN CL E G H64341823452OMIM:613943Ichthyosis, congenital, autosomal recessive 8.1
HP:0000962HP:0000962Hyperkeratosis0LIPN CL E G H64341823452ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent1
HP:0000962HP:0000962Hyperkeratosis0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0000962HP:0000962Hyperkeratosis0LMNA CL E G H40006636ORPHA:154Familial isolated dilated cardiomyopathy645
HP:0000962HP:0000962Hyperkeratosis0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathy645
HP:0000962HP:0000962Hyperkeratosis0LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosis
HP:0000962HP:0000962Hyperkeratosis0LORICRIN CL E G H40146663ORPHA:316Progressive symmetric erythrokeratodermia
HP:0000962HP:0000962Hyperkeratosis0LORICRIN CL E G H40146663OMIM:604117Vohwinkel syndrome, variant form.
HP:0000962HP:0000962Hyperkeratosis0LRP1 CL E G H40356692ORPHA:79100Atrophoderma vermiculata4
HP:0000962HP:0000962Hyperkeratosis0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0000962HP:0000962Hyperkeratosis0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0000962HP:0000962Hyperkeratosis0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0000962HP:0000962Hyperkeratosis0MAP2K1 CL E G H56046840OMIM:615279Cardiofaciocutaneous syndrome 3134
HP:0000962HP:0000962Hyperkeratosis0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0000962HP:0000962Hyperkeratosis0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0000962HP:0000962Hyperkeratosis0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040282 - Frequent22
HP:0000962HP:0000962Hyperkeratosis0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0000962HP:0000962Hyperkeratosis0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0000962HP:0000962Hyperkeratosis0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques22
HP:0000962HP:0000962Hyperkeratosis0MBTPS2 CL E G H5136015455OMIM:300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked.22
HP:0000962HP:0000962Hyperkeratosis0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IV78
HP:0000962HP:0000962Hyperkeratosis0MDFIC CL E G H2996928870OMIM:620014
HP:0000962HP:0000962Hyperkeratosis0MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF.32
HP:0000962HP:0000962Hyperkeratosis0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0000962HP:0000962Hyperkeratosis0MVK CL E G H45987530ORPHA:735Porokeratosis of MibelliHP:0040281 - Very frequent150
HP:0000962HP:0000962Hyperkeratosis0MYBPC3 CL E G H46077551ORPHA:154Familial isolated dilated cardiomyopathy1143
HP:0000962HP:0000962Hyperkeratosis0MYH6 CL E G H46247576ORPHA:154Familial isolated dilated cardiomyopathy452
HP:0000962HP:0000962Hyperkeratosis0MYH7 CL E G H46257577ORPHA:154Familial isolated dilated cardiomyopathy1269
HP:0000962HP:0000962Hyperkeratosis0MYPN CL E G H8466523246ORPHA:154Familial isolated dilated cardiomyopathy217
HP:0000962HP:0000962Hyperkeratosis0NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 1HP:0040282 - Frequent47
HP:0000962HP:0000962Hyperkeratosis0NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 2HP:0040281 - Very frequent47
HP:0000962HP:0000962Hyperkeratosis0NAGA CL E G H46687631OMIM:609242Kanzaki disease.47
HP:0000962HP:0000962Hyperkeratosis0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0000962HP:0000962Hyperkeratosis0NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0000962HP:0000962Hyperkeratosis0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 17
HP:0000962HP:0000962Hyperkeratosis0NEU1 CL E G H47587758ORPHA:812Sialidosis type 1HP:0040281 - Very frequent43
HP:0000962HP:0000962Hyperkeratosis0NEXN CL E G H9162429557ORPHA:154Familial isolated dilated cardiomyopathy167
HP:0000962HP:0000962Hyperkeratosis0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0000962HP:0000962Hyperkeratosis0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 127
HP:0000962HP:0000962Hyperkeratosis0NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythroderma60
HP:0000962HP:0000962Hyperkeratosis0NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 6.60
HP:0000962HP:0000962Hyperkeratosis0NIPAL4 CL E G H34893828018ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent60
HP:0000962HP:0000962Hyperkeratosis0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0000962HP:0000962Hyperkeratosis0NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healing37
HP:0000962HP:0000962Hyperkeratosis0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0000962HP:0000962Hyperkeratosis0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 117
HP:0000962HP:0000962Hyperkeratosis0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0000962HP:0000962Hyperkeratosis0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0000962HP:0000962Hyperkeratosis0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0000962HP:0000962Hyperkeratosis0PDGFRB CL E G H51598804OMIM:601812Premature aging syndrome, Penttinen type.28
HP:0000962HP:0000962Hyperkeratosis0PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040281 - Very frequent66
HP:0000962HP:0000962Hyperkeratosis0PERP CL E G H6406517637OMIM:619209ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0000962HP:0000962Hyperkeratosis0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0000962HP:0000962Hyperkeratosis0PERP CL E G H6406517637OMIM:619208OLMSTED SYNDROME 2; OLMS2
HP:0000962HP:0000962Hyperkeratosis0PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040283 - Occasional36
HP:0000962HP:0000962Hyperkeratosis0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0000962HP:0000962Hyperkeratosis0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0000962HP:0000962Hyperkeratosis0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0000962HP:0000962Hyperkeratosis0PIK3CA CL E G H52908975ORPHA:276280Hemihyperplasia-multiple lipomatosis syndrome162
HP:0000962HP:0000962Hyperkeratosis0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndrome107
HP:0000962HP:0000962Hyperkeratosis0PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0000962HP:0000962Hyperkeratosis0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy759
HP:0000962HP:0000962Hyperkeratosis0PLEC CL E G H53399069OMIM:616487Epidermolysis bullosa simplex with nail dystrophy759
HP:0000962HP:0000962Hyperkeratosis0PLEC CL E G H53399069ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement759
HP:0000962HP:0000962Hyperkeratosis0PLN CL E G H53509080ORPHA:154Familial isolated dilated cardiomyopathy57
HP:0000962HP:0000962Hyperkeratosis0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0000962HP:0000962Hyperkeratosis0PMVK CL E G H106549141ORPHA:735Porokeratosis of MibelliHP:0040281 - Very frequent3
HP:0000962HP:0000962Hyperkeratosis0PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythroderma47
HP:0000962HP:0000962Hyperkeratosis0PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 1047
HP:0000962HP:0000962Hyperkeratosis0POFUT1 CL E G H2350914988ORPHA:79145Dowling-Degos diseaseHP:0040282 - Frequent2
HP:0000962HP:0000962Hyperkeratosis0POFUT1 CL E G H2350914988OMIM:615327Dowling-Degos disease 22
HP:0000962HP:0000962Hyperkeratosis0POGLUT1 CL E G H5698322954ORPHA:79145Dowling-Degos diseaseHP:0040282 - Frequent6
HP:0000962HP:0000962Hyperkeratosis0POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0000962HP:0000962Hyperkeratosis0POMP CL E G H5137120330OMIM:601952Keratosis linearis with ichthyosis congenita and sclerosing keratoderma2
HP:0000962HP:0000962Hyperkeratosis0POMP CL E G H5137120330ORPHA:281201Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome2
HP:0000962HP:0000962Hyperkeratosis0PPCS CL E G H7971725686ORPHA:154Familial isolated dilated cardiomyopathy
HP:0000962HP:0000962Hyperkeratosis0PRDM16 CL E G H6397614000ORPHA:154Familial isolated dilated cardiomyopathy148
HP:0000962HP:0000962Hyperkeratosis0PSEN1 CL E G H56639508ORPHA:154Familial isolated dilated cardiomyopathy241
HP:0000962HP:0000962Hyperkeratosis0PSEN2 CL E G H56649509ORPHA:154Familial isolated dilated cardiomyopathy59
HP:0000962HP:0000962Hyperkeratosis0PSENEN CL E G H5585130100OMIM:613736Acne inversa, familial, 2, with or without dowling-degos disease2
HP:0000962HP:0000962Hyperkeratosis0PSENEN CL E G H5585130100ORPHA:79145Dowling-Degos diseaseHP:0040282 - Frequent2
HP:0000962HP:0000962Hyperkeratosis0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0000962HP:0000962Hyperkeratosis0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0000962HP:0000962Hyperkeratosis0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0000962HP:0000962Hyperkeratosis0RAF1 CL E G H58949829ORPHA:154Familial isolated dilated cardiomyopathy212
HP:0000962HP:0000962Hyperkeratosis0RBM20 CL E G H28299627424ORPHA:154Familial isolated dilated cardiomyopathy363
HP:0000962HP:0000962Hyperkeratosis0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2445
HP:0000962HP:0000962Hyperkeratosis0RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndrome80
HP:0000962HP:0000962Hyperkeratosis0RHBDF2 CL E G H7965120788OMIM:148500Tylosis with esophageal cancer80
HP:0000962HP:0000962Hyperkeratosis0RIGI CL E G H2358619102OMIM:616298Singleton-Merten syndrome 2.
HP:0000962HP:0000962Hyperkeratosis0RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0000962HP:0000962Hyperkeratosis0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0000962HP:0000962Hyperkeratosis0RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0000962HP:0000962Hyperkeratosis0RSPO1 CL E G H28465421679ORPHA:85112Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome3
HP:0000962HP:0000962Hyperkeratosis0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0000962HP:0000962Hyperkeratosis0SASH1 CL E G H2332819182OMIM:618373Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma1
HP:0000962HP:0000962Hyperkeratosis0SCN5A CL E G H633110593ORPHA:154Familial isolated dilated cardiomyopathy1134
HP:0000962HP:0000962Hyperkeratosis0SDHA CL E G H638910680ORPHA:154Familial isolated dilated cardiomyopathy304
HP:0000962HP:0000962Hyperkeratosis0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0000962HP:0000962Hyperkeratosis0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0000962HP:0000962Hyperkeratosis0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0000962HP:0000962Hyperkeratosis0SDR9C7 CL E G H12121429958OMIM:617574Ichthyosis, congenital, autosomal recessive 13.2
HP:0000962HP:0000962Hyperkeratosis0SDR9C7 CL E G H12121429958ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent2
HP:0000962HP:0000962Hyperkeratosis0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0000962HP:0000962Hyperkeratosis0SERPINA12 CL E G H14526418359ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
HP:0000962HP:0000962Hyperkeratosis0SERPINB7 CL E G H871013902ORPHA:140966Palmoplantar keratoderma, Nagashima type4
HP:0000962HP:0000962Hyperkeratosis0SERPINB7 CL E G H871013902OMIM:615598Palmoplantar keratoderma, Nagashima type4
HP:0000962HP:0000962Hyperkeratosis0SERPINB8 CL E G H52718952OMIM:617115Peeling skin syndrome 5.3
HP:0000962HP:0000962Hyperkeratosis0SGCD CL E G H644410807ORPHA:154Familial isolated dilated cardiomyopathy223
HP:0000962HP:0000962Hyperkeratosis0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0000962HP:0000962Hyperkeratosis0SLC27A4 CL E G H1099910998OMIM:608649ICHTHYOSIS PREMATURITY SYNDROME; IPS26
HP:0000962HP:0000962Hyperkeratosis0SLCO2A1 CL E G H657810955ORPHA:2796Pachydermoperiostosis13
HP:0000962HP:0000962Hyperkeratosis0SLURP1 CL E G H5715218746ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen type15
HP:0000962HP:0000962Hyperkeratosis0SLURP1 CL E G H5715218746ORPHA:87503Mal de Meleda15
HP:0000962HP:0000962Hyperkeratosis0SLURP1 CL E G H5715218746OMIM:248300Meleda disease15
HP:0000962HP:0000962Hyperkeratosis0SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0000962HP:0000962Hyperkeratosis0SMARCAD1 CL E G H5691618398OMIM:136000Fingerprints, absence of6
HP:0000962HP:0000962Hyperkeratosis0SMARCAD1 CL E G H5691618398OMIM:181600Huriez syndrome6
HP:0000962HP:0000962Hyperkeratosis0SMARCAD1 CL E G H5691618398ORPHA:384Huriez syndrome6
HP:0000962HP:0000962Hyperkeratosis0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndrome94
HP:0000962HP:0000962Hyperkeratosis0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0000962HP:0000962Hyperkeratosis0SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome7
HP:0000962HP:0000962Hyperkeratosis0SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent54
HP:0000962HP:0000962Hyperkeratosis0SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent149
HP:0000962HP:0000962Hyperkeratosis0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ.80
HP:0000962HP:0000962Hyperkeratosis0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDG80
HP:0000962HP:0000962Hyperkeratosis0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary1
HP:0000962HP:0000962Hyperkeratosis0ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 11.4
HP:0000962HP:0000962Hyperkeratosis0STS CL E G H41211425OMIM:308100Ichthyosis, X-linked19
HP:0000962HP:0000962Hyperkeratosis0STS CL E G H41211425ORPHA:461Recessive X-linked ichthyosisHP:0040281 - Very frequent19
HP:0000962HP:0000962Hyperkeratosis0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosisHP:0040281 - Very frequent19
HP:0000962HP:0000962Hyperkeratosis0SULT2B1 CL E G H682011459OMIM:617571Ichthyosis, congenital, autosomal recessive 14.4
HP:0000962HP:0000962Hyperkeratosis0SULT2B1 CL E G H682011459ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent4
HP:0000962HP:0000962Hyperkeratosis0TAF1A CL E G H901511532ORPHA:154Familial isolated dilated cardiomyopathy
HP:0000962HP:0000962Hyperkeratosis0TAFAZZIN CL E G H690111577ORPHA:154Familial isolated dilated cardiomyopathy
HP:0000962HP:0000962Hyperkeratosis0TARS1 CL E G H689711572OMIM:618546Trichothiodystrophy 7, nonphotosensitive
HP:0000962HP:0000962Hyperkeratosis0TAT CL E G H689811573ORPHA:28378Tyrosinemia type 2HP:0040281 - Very frequent43
HP:0000962HP:0000962Hyperkeratosis0TCAP CL E G H855711610ORPHA:154Familial isolated dilated cardiomyopathy78
HP:0000962HP:0000962Hyperkeratosis0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0000962HP:0000962Hyperkeratosis0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0000962HP:0000962Hyperkeratosis0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2238
HP:0000962HP:0000962Hyperkeratosis0TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosis98
HP:0000962HP:0000962Hyperkeratosis0TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythroderma98
HP:0000962HP:0000962Hyperkeratosis0TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 198
HP:0000962HP:0000962Hyperkeratosis0TGM1 CL E G H705111777ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent98
HP:0000962HP:0000962Hyperkeratosis0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0000962HP:0000962Hyperkeratosis0TMPO CL E G H711211875ORPHA:154Familial isolated dilated cardiomyopathy136
HP:0000962HP:0000962Hyperkeratosis0TMPRSS6 CL E G H16465616517ORPHA:209981IRIDA syndromeHP:0040281 - Very frequent65
HP:0000962HP:0000962Hyperkeratosis0TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoidesHP:0040283 - Occasional
HP:0000962HP:0000962Hyperkeratosis0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndrome
HP:0000962HP:0000962Hyperkeratosis0TNNC1 CL E G H713411943ORPHA:154Familial isolated dilated cardiomyopathy73
HP:0000962HP:0000962Hyperkeratosis0TNNI3 CL E G H713711947ORPHA:154Familial isolated dilated cardiomyopathy180
HP:0000962HP:0000962Hyperkeratosis0TNNT2 CL E G H713911949ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0000962HP:0000962Hyperkeratosis0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0000962HP:0000962Hyperkeratosis0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0000962HP:0000962Hyperkeratosis0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040281 - Very frequent140
HP:0000962HP:0000962Hyperkeratosis0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0000962HP:0000962Hyperkeratosis0TPM1 CL E G H716812010ORPHA:154Familial isolated dilated cardiomyopathy230
HP:0000962HP:0000962Hyperkeratosis0TRAF3IP2 CL E G H107581343ORPHA:1334Chronic mucocutaneous candidiasisHP:0040281 - Very frequent4
HP:0000962HP:0000962Hyperkeratosis0TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndrome27
HP:0000962HP:0000962Hyperkeratosis0TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome4
HP:0000962HP:0000962Hyperkeratosis0TRIP4 CL E G H932512310OMIM:617066Muscular dystrophy, congenital, Davignon-Chauveau type4
HP:0000962HP:0000962Hyperkeratosis0TRNS1 CL E G H45747497ORPHA:2202Palmoplantar keratoderma-deafness syndromeHP:0040281 - Very frequent
HP:0000962HP:0000962Hyperkeratosis0TRPM4 CL E G H5479517993ORPHA:316Progressive symmetric erythrokeratodermia124
HP:0000962HP:0000962Hyperkeratosis0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaques151
HP:0000962HP:0000962Hyperkeratosis0TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques151
HP:0000962HP:0000962Hyperkeratosis0TRPV3 CL E G H16251418084OMIM:616400Palmoplantar keratoderma, nonepidermolytic, focal 2.151
HP:0000962HP:0000962Hyperkeratosis0TTN CL E G H727312403ORPHA:154Familial isolated dilated cardiomyopathy7128
HP:0000962HP:0000962Hyperkeratosis0TXNRD2 CL E G H1058718155ORPHA:154Familial isolated dilated cardiomyopathy85
HP:0000962HP:0000962Hyperkeratosis0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0000962HP:0000962Hyperkeratosis0TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1AHP:0040283 - Occasional146
HP:0000962HP:0000962Hyperkeratosis0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0000962HP:0000962Hyperkeratosis0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0000962HP:0000962Hyperkeratosis0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0000962HP:0000962Hyperkeratosis0VCL CL E G H741412665ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0000962HP:0000962Hyperkeratosis0VEGFC CL E G H742412682OMIM:615907Lymphedema, hereditary, ID.4
HP:0000962HP:0000962Hyperkeratosis0VPS33B CL E G H2627612712OMIM:62000963
HP:0000962HP:0000962Hyperkeratosis0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0000962HP:0000962Hyperkeratosis0WNT10A CL E G H8032613829ORPHA:50944Schöpf-Schulz-Passarge syndrome71
HP:0000962HP:0000962Hyperkeratosis0WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome71
HP:0000962HP:0000962Hyperkeratosis0WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0000962HP:0000962Hyperkeratosis0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0000962HP:0000962Hyperkeratosis0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040282 - Frequent310
HP:0000962HP:0000962Hyperkeratosis0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent34
HP:0000962HP:0000962Hyperkeratosis0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent86
HP:0000962HP:0000962Hyperkeratosis0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0000962HP:0000962Hyperkeratosis0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathy83
HP:0000962HP:0000962Hyperkeratosis0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal83
HP:0000962HP:0000962Hyperkeratosis0ZNF750 CL E G H7975525843OMIM:610227Seborrhea-Like dermatitis with psoriasiform elements.2
HP:0000962HP:0008399Circumungual hyperkeratosis1 CL E G H
HP:0000962HP:0007570Hyperkeratosis lenticularis perstans1 CL E G H
HP:0000962HP:0007556Plantar hyperkeratosis1AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0000962HP:0010765Palmar hyperkeratosis1AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0000962HP:0010765Palmar hyperkeratosis1AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0000962HP:0007556Plantar hyperkeratosis1AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040283 - Occasional57
HP:0000962HP:0007556Plantar hyperkeratosis1AAGAB CL E G H7971925662OMIM:148600Palmoplantar keratoderma, punctate type IA7
HP:0000962HP:0010765Palmar hyperkeratosis1AAGAB CL E G H7971925662OMIM:148600Palmoplantar keratoderma, punctate type IA7
HP:0000962HP:0010765Palmar hyperkeratosis1AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0000962HP:0045059Hyperkeratotic papule1AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040281 - Very frequent7
HP:0000962HP:0007556Plantar hyperkeratosis1AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0000962HP:0007556Plantar hyperkeratosis1ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythroderma130
HP:0000962HP:0010765Palmar hyperkeratosis1ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythroderma130
HP:0000962HP:0007556Plantar hyperkeratosis1ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A130
HP:0000962HP:0010765Palmar hyperkeratosis1ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A130
HP:0000962HP:0010765Palmar hyperkeratosis1ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathy254
HP:0000962HP:0007556Plantar hyperkeratosis1ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathy254
HP:0000962HP:0010765Palmar hyperkeratosis1ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathy208
HP:0000962HP:0007556Plantar hyperkeratosis1ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathy208
HP:0000962HP:0007556Plantar hyperkeratosis1ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathy307
HP:0000962HP:0010765Palmar hyperkeratosis1ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathy307
HP:0000962HP:0000222Gingival hyperkeratosis1ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0000962HP:0007556Plantar hyperkeratosis1AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0000962HP:0005595Generalized hyperkeratosis1AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040281 - Very frequent54
HP:0000962HP:0010765Palmar hyperkeratosis1AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0000962HP:0007556Plantar hyperkeratosis1AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0000962HP:0010765Palmar hyperkeratosis1AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0000962HP:0005595Generalized hyperkeratosis1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040282 - Frequent54
HP:0000962HP:0010765Palmar hyperkeratosis1ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythroderma75
HP:0000962HP:0007556Plantar hyperkeratosis1ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythroderma75
HP:0000962HP:0010765Palmar hyperkeratosis1ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0000962HP:0007556Plantar hyperkeratosis1ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0000962HP:0007556Plantar hyperkeratosis1ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythroderma63
HP:0000962HP:0010765Palmar hyperkeratosis1ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythroderma63
HP:0000962HP:0010765Palmar hyperkeratosis1ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0000962HP:0007556Plantar hyperkeratosis1ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0000962HP:0007556Plantar hyperkeratosis1ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 363
HP:0000962HP:0010765Palmar hyperkeratosis1ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 363
HP:0000962HP:0007556Plantar hyperkeratosis1ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:0000962HP:0010765Palmar hyperkeratosis1ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathy95
HP:0000962HP:0007556Plantar hyperkeratosis1ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathy95
HP:0000962HP:0007556Plantar hyperkeratosis1AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000962HP:0010765Palmar hyperkeratosis1AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000962HP:0010765Palmar hyperkeratosis1AQP5 CL E G H362638ORPHA:2337Non-epidermolytic palmoplantar keratoderma5
HP:0000962HP:0007556Plantar hyperkeratosis1AQP5 CL E G H362638ORPHA:2337Non-epidermolytic palmoplantar keratoderma5
HP:0000962HP:0010765Palmar hyperkeratosis1AQP5 CL E G H362638OMIM:600231PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB5
HP:0000962HP:0007556Plantar hyperkeratosis1AQP5 CL E G H362638OMIM:600231PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB5
HP:0000962HP:0007556Plantar hyperkeratosis1ATP2A2 CL E G H488812OMIM:101900Acrokeratosis verruciformis86
HP:0000962HP:0010765Palmar hyperkeratosis1ATP2A2 CL E G H488812OMIM:101900Acrokeratosis verruciformis86
HP:0000962HP:0010765Palmar hyperkeratosis1ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of Hopf86
HP:0000962HP:0007556Plantar hyperkeratosis1ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of Hopf86
HP:0000962HP:0007556Plantar hyperkeratosis1ATP2A2 CL E G H488812ORPHA:218Darier disease86
HP:0000962HP:0008410Subungual hyperkeratotic fragments1ATP2A2 CL E G H488812ORPHA:218Darier diseaseHP:0040281 - Very frequent86
HP:0000962HP:0010765Palmar hyperkeratosis1ATP2A2 CL E G H488812ORPHA:218Darier disease86
HP:0000962HP:0008410Subungual hyperkeratotic fragments1ATP2A2 CL E G H488812OMIM:124200Darier-White disease.86
HP:0000962HP:0007556Plantar hyperkeratosis1BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathy204
HP:0000962HP:0010765Palmar hyperkeratosis1BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathy204
HP:0000962HP:0007556Plantar hyperkeratosis1BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathy
HP:0000962HP:0010765Palmar hyperkeratosis1BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathy
HP:0000962HP:0010765Palmar hyperkeratosis1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0000962HP:0007556Plantar hyperkeratosis1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0000962HP:0007543Epidermal hyperkeratosis1BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0000962HP:0010765Palmar hyperkeratosis1CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathy
HP:0000962HP:0007556Plantar hyperkeratosis1CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathy
HP:0000962HP:0007556Plantar hyperkeratosis1CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilaris33
HP:0000962HP:0010765Palmar hyperkeratosis1CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris33
HP:0000962HP:0008392Subungual hyperkeratosis1CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilarisHP:0040282 - Frequent33
HP:0000962HP:0008392Subungual hyperkeratosis1CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris.33
HP:0000962HP:0007556Plantar hyperkeratosis1CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris33
HP:0000962HP:0010765Palmar hyperkeratosis1CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilaris33
HP:0000962HP:0007556Plantar hyperkeratosis1CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads4
HP:0000962HP:0010765Palmar hyperkeratosis1CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads4
HP:0000962HP:0010765Palmar hyperkeratosis1CD28 CL E G H9401653ORPHA:3162Sézary syndrome
HP:0000962HP:0007556Plantar hyperkeratosis1CD28 CL E G H9401653ORPHA:3162Sézary syndrome
HP:0000962HP:0010765Palmar hyperkeratosis1CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythroderma5
HP:0000962HP:0007556Plantar hyperkeratosis1CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythroderma5
HP:0000962HP:0010765Palmar hyperkeratosis1CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0000962HP:0025080Orthokeratotic hyperkeratosis1CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratodermaHP:0040282 - Frequent1371
HP:0000962HP:0007556Plantar hyperkeratosis1CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0000962HP:0007556Plantar hyperkeratosis1COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome71
HP:0000962HP:0010765Palmar hyperkeratosis1COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome71
HP:0000962HP:0007556Plantar hyperkeratosis1COG6 CL E G H5751118621OMIM:615328Shaheen syndrome71
HP:0000962HP:0010765Palmar hyperkeratosis1COG6 CL E G H5751118621OMIM:615328Shaheen syndrome71
HP:0000962HP:0045059Hyperkeratotic papule1COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040281 - Very frequent2
HP:0000962HP:0007556Plantar hyperkeratosis1COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0000962HP:0010765Palmar hyperkeratosis1COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0000962HP:0007556Plantar hyperkeratosis1COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0000962HP:0010765Palmar hyperkeratosis1COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0000962HP:0007502Follicular hyperkeratosis1COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0000962HP:0007502Follicular hyperkeratosis1COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0000962HP:0007502Follicular hyperkeratosis1COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0000962HP:0007556Plantar hyperkeratosis1COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral form263
HP:0000962HP:0010765Palmar hyperkeratosis1COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral form263
HP:0000962HP:0045059Hyperkeratotic papule1COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial formHP:0040283 - Occasional263
HP:0000962HP:0010765Palmar hyperkeratosis1CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathy46
HP:0000962HP:0007556Plantar hyperkeratosis1CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathy46
HP:0000962HP:0010765Palmar hyperkeratosis1CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathy104
HP:0000962HP:0007556Plantar hyperkeratosis1CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathy104
HP:0000962HP:0010765Palmar hyperkeratosis1CSTA CL E G H14752481OMIM:607936Peeling skin syndrome 44
HP:0000962HP:0007556Plantar hyperkeratosis1CSTA CL E G H14752481OMIM:607936Peeling skin syndrome 44
HP:0000962HP:0010765Palmar hyperkeratosis1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0000962HP:0007556Plantar hyperkeratosis1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0000962HP:0010765Palmar hyperkeratosis1CTLA4 CL E G H14932505ORPHA:3162Sézary syndrome10
HP:0000962HP:0007556Plantar hyperkeratosis1CTLA4 CL E G H14932505ORPHA:3162Sézary syndrome10
HP:0000962HP:0010765Palmar hyperkeratosis1CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome50
HP:0000962HP:0007556Plantar hyperkeratosis1CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome50
HP:0000962HP:0007556Plantar hyperkeratosis1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0000962HP:0010765Palmar hyperkeratosis1CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0000962HP:0007556Plantar hyperkeratosis1CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome50
HP:0000962HP:0010765Palmar hyperkeratosis1CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome50
HP:0000962HP:0007556Plantar hyperkeratosis1CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 554
HP:0000962HP:0010765Palmar hyperkeratosis1CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 554
HP:0000962HP:0007502Follicular hyperkeratosis1DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0000962HP:0010765Palmar hyperkeratosis1DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathy263
HP:0000962HP:0007556Plantar hyperkeratosis1DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathy263
HP:0000962HP:0010765Palmar hyperkeratosis1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0000962HP:0007556Plantar hyperkeratosis1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0000962HP:0007556Plantar hyperkeratosis1DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathy1496
HP:0000962HP:0010765Palmar hyperkeratosis1DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathy1496
HP:0000962HP:0007556Plantar hyperkeratosis1DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathy55
HP:0000962HP:0010765Palmar hyperkeratosis1DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathy55
HP:0000962HP:0007556Plantar hyperkeratosis1DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11268
HP:0000962HP:0010765Palmar hyperkeratosis1DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11268
HP:0000962HP:0007502Follicular hyperkeratosis1DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0000962HP:0010765Palmar hyperkeratosis1DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige16
HP:0000962HP:0007556Plantar hyperkeratosis1DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige16
HP:0000962HP:0010765Palmar hyperkeratosis1DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0000962HP:0007556Plantar hyperkeratosis1DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0000962HP:0007501Streaks of hyperkeratosis along each finger onto the palm1DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0000962HP:0025080Orthokeratotic hyperkeratosis1DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0000962HP:0010765Palmar hyperkeratosis1DSG1 CL E G H18283048ORPHA:50942Striate palmoplantar keratoderma16
HP:0000962HP:0007556Plantar hyperkeratosis1DSG1 CL E G H18283048ORPHA:50942Striate palmoplantar keratoderma16
HP:0000962HP:0010765Palmar hyperkeratosis1DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathy358
HP:0000962HP:0007556Plantar hyperkeratosis1DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathy358
HP:0000962HP:0007502Follicular hyperkeratosis1DSG4 CL E G H14740921307OMIM:607903Hypotrichosis 6.63
HP:0000962HP:0007502Follicular hyperkeratosis1DSG4 CL E G H14740921307ORPHA:573MonilethrixHP:0040281 - Very frequent63
HP:0000962HP:0007556Plantar hyperkeratosis1DSP CL E G H18323052OMIM:605676Cardiomyopathy, dilated, with woolly hair and keratoderma747
HP:0000962HP:0010765Palmar hyperkeratosis1DSP CL E G H18323052OMIM:605676Cardiomyopathy, dilated, with woolly hair and keratoderma747
HP:0000962HP:0007556Plantar hyperkeratosis1DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis747
HP:0000962HP:0010765Palmar hyperkeratosis1DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis747
HP:0000962HP:0010765Palmar hyperkeratosis1DSP CL E G H18323052ORPHA:65282Carvajal syndrome747
HP:0000962HP:0007556Plantar hyperkeratosis1DSP CL E G H18323052ORPHA:65282Carvajal syndrome747
HP:0000962HP:0007556Plantar hyperkeratosis1DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathy747
HP:0000962HP:0010765Palmar hyperkeratosis1DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathy747
HP:0000962HP:0007556Plantar hyperkeratosis1DSP CL E G H18323052OMIM:612908Keratosis palmoplantaris striata II747
HP:0000962HP:0010765Palmar hyperkeratosis1DSP CL E G H18323052OMIM:612908Keratosis palmoplantaris striata II747
HP:0000962HP:0010765Palmar hyperkeratosis1DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome747
HP:0000962HP:0007556Plantar hyperkeratosis1DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome747
HP:0000962HP:0007556Plantar hyperkeratosis1DSP CL E G H18323052ORPHA:50942Striate palmoplantar keratoderma747
HP:0000962HP:0010765Palmar hyperkeratosis1DSP CL E G H18323052ORPHA:50942Striate palmoplantar keratoderma747
HP:0000962HP:0007543Epidermal hyperkeratosis1ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 3462
HP:0000962HP:0010765Palmar hyperkeratosis1ENPP1 CL E G H51673356OMIM:615522Cole disease151
HP:0000962HP:0007556Plantar hyperkeratosis1ENPP1 CL E G H51673356OMIM:615522Cole disease151
HP:0000962HP:0031288Cobblestone-like hyperkeratosis1EPHB4 CL E G H20503395ORPHA:90186Meige diseaseHP:0040282 - Frequent3
HP:0000962HP:0010765Palmar hyperkeratosis1FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosa136
HP:0000962HP:0007556Plantar hyperkeratosis1FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosa136
HP:0000962HP:0007556Plantar hyperkeratosis1FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0000962HP:0010765Palmar hyperkeratosis1FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0000962HP:0010765Palmar hyperkeratosis1FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0000962HP:0007556Plantar hyperkeratosis1FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0000962HP:0010765Palmar hyperkeratosis1FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathy36
HP:0000962HP:0007556Plantar hyperkeratosis1FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathy36
HP:0000962HP:0007556Plantar hyperkeratosis1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000962HP:0010765Palmar hyperkeratosis1FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0000962HP:0007502Follicular hyperkeratosis1FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 2.13
HP:0000962HP:0007502Follicular hyperkeratosis1FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyHP:0040281 - Very frequent13
HP:0000962HP:0007556Plantar hyperkeratosis1FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathy184
HP:0000962HP:0010765Palmar hyperkeratosis1FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathy184
HP:0000962HP:0007448Hyperkeratosis over edematous areas1FLT4 CL E G H23243767OMIM:153100Lymphatic malformation 1.90
HP:0000962HP:0005595Generalized hyperkeratosis1FUCA1 CL E G H25174006ORPHA:349FucosidosisHP:0040281 - Very frequent43
HP:0000962HP:0010765Palmar hyperkeratosis1GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathy35
HP:0000962HP:0007556Plantar hyperkeratosis1GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathy35
HP:0000962HP:0007556Plantar hyperkeratosis1GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0000962HP:0010765Palmar hyperkeratosis1GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0000962HP:0010765Palmar hyperkeratosis1GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilis68
HP:0000962HP:0007556Plantar hyperkeratosis1GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilis68
HP:0000962HP:0007556Plantar hyperkeratosis1GJA1 CL E G H26974274OMIM:617525Erythrokeratodermia variabilis et progressiva 368
HP:0000962HP:0010765Palmar hyperkeratosis1GJA1 CL E G H26974274OMIM:617525Erythrokeratodermia variabilis et progressiva 368
HP:0000962HP:0010765Palmar hyperkeratosis1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0000962HP:0007556Plantar hyperkeratosis1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0000962HP:0010765Palmar hyperkeratosis1GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0000962HP:0007543Epidermal hyperkeratosis1GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0000962HP:0007556Plantar hyperkeratosis1GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0000962HP:0007556Plantar hyperkeratosis1GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0000962HP:0031288Cobblestone-like hyperkeratosis1GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0000962HP:0010765Palmar hyperkeratosis1GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0000962HP:0007556Plantar hyperkeratosis1GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilans199
HP:0000962HP:0010765Palmar hyperkeratosis1GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilans199
HP:0000962HP:0007556Plantar hyperkeratosis1GJB2 CL E G H27064284OMIM:148350Keratoderma, palmoplantar, with deafness199
HP:0000962HP:0010765Palmar hyperkeratosis1GJB2 CL E G H27064284OMIM:148350Keratoderma, palmoplantar, with deafness199
HP:0000962HP:0007556Plantar hyperkeratosis1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0000962HP:0010765Palmar hyperkeratosis1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0000962HP:0007502Follicular hyperkeratosis1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0000962HP:0010765Palmar hyperkeratosis1GJB2 CL E G H27064284OMIM:149200Knuckle pads, leukonychia, and sensorineural deafness199
HP:0000962HP:0007556Plantar hyperkeratosis1GJB2 CL E G H27064284OMIM:149200Knuckle pads, leukonychia, and sensorineural deafness199
HP:0000962HP:0045059Hyperkeratotic papule1GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome199
HP:0000962HP:0007556Plantar hyperkeratosis1GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome199
HP:0000962HP:0010765Palmar hyperkeratosis1GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome199
HP:0000962HP:0007556Plantar hyperkeratosis1GJB2 CL E G H27064284ORPHA:2202Palmoplantar keratoderma-deafness syndrome199
HP:0000962HP:0010765Palmar hyperkeratosis1GJB2 CL E G H27064284ORPHA:2202Palmoplantar keratoderma-deafness syndrome199
HP:0000962HP:0010765Palmar hyperkeratosis1GJB2 CL E G H27064284OMIM:124500VOHWINKEL SYNDROME; VOWNKL199
HP:0000962HP:0007556Plantar hyperkeratosis1GJB2 CL E G H27064284OMIM:124500VOHWINKEL SYNDROME; VOWNKL199
HP:0000962HP:0007556Plantar hyperkeratosis1GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilis74
HP:0000962HP:0010765Palmar hyperkeratosis1GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilis74
HP:0000962HP:0005595Generalized hyperkeratosis1GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 174
HP:0000962HP:0010765Palmar hyperkeratosis1GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 174
HP:0000962HP:0007556Plantar hyperkeratosis1GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 174
HP:0000962HP:0010765Palmar hyperkeratosis1GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilis12
HP:0000962HP:0007556Plantar hyperkeratosis1GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilis12
HP:0000962HP:0007556Plantar hyperkeratosis1GJB4 CL E G H1275344286OMIM:617524Erythrokeratodermia variabilis et progressiva 212
HP:0000962HP:0010765Palmar hyperkeratosis1GJB4 CL E G H1275344286OMIM:617524Erythrokeratodermia variabilis et progressiva 212
HP:0000962HP:0007556Plantar hyperkeratosis1GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0000962HP:0010765Palmar hyperkeratosis1GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0000962HP:0010765Palmar hyperkeratosis1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0000962HP:0031288Cobblestone-like hyperkeratosis1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0000962HP:0007556Plantar hyperkeratosis1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0000962HP:0045059Hyperkeratotic papule1GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0000962HP:0010765Palmar hyperkeratosis1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0000962HP:0007556Plantar hyperkeratosis1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0000962HP:0007502Follicular hyperkeratosis1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0000962HP:0007556Plantar hyperkeratosis1GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040283 - Occasional24
HP:0000962HP:0010765Palmar hyperkeratosis1GMPPA CL E G H2992622923ORPHA:869Triple A syndrome24
HP:0000962HP:0007556Plantar hyperkeratosis1HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathy2
HP:0000962HP:0010765Palmar hyperkeratosis1HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathy2
HP:0000962HP:0007468Perifollicular hyperkeratosis1HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndromeHP:0040281 - Very frequent
HP:0000962HP:0007556Plantar hyperkeratosis1HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 155
HP:0000962HP:0010765Palmar hyperkeratosis1HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 155
HP:0000962HP:0010765Palmar hyperkeratosis1HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0000962HP:0007556Plantar hyperkeratosis1HPGD CL E G H32485154ORPHA:2796Pachydermoperiostosis55
HP:0000962HP:0010765Palmar hyperkeratosis1ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0000962HP:0007556Plantar hyperkeratosis1ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0000962HP:0007556Plantar hyperkeratosis1JUP CL E G H37286207ORPHA:34217Naxos disease222
HP:0000962HP:0007556Plantar hyperkeratosis1JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0000962HP:0008392Subungual hyperkeratosis1JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0000962HP:0010765Palmar hyperkeratosis1JUP CL E G H37286207ORPHA:34217Naxos disease222
HP:0000962HP:0010765Palmar hyperkeratosis1JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0000962HP:0007556Plantar hyperkeratosis1KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair1
HP:0000962HP:0010765Palmar hyperkeratosis1KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair1
HP:0000962HP:0010765Palmar hyperkeratosis1KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilis4
HP:0000962HP:0007556Plantar hyperkeratosis1KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilis4
HP:0000962HP:0010765Palmar hyperkeratosis1KDSR CL E G H25314021OMIM:617526Erythrokeratodermia variabilis et progressiva 44
HP:0000962HP:0007556Plantar hyperkeratosis1KDSR CL E G H25314021OMIM:617526Erythrokeratodermia variabilis et progressiva 44
HP:0000962HP:0010765Palmar hyperkeratosis1KDSR CL E G H25314021ORPHA:316Progressive symmetric erythrokeratodermia4
HP:0000962HP:0007556Plantar hyperkeratosis1KDSR CL E G H25314021ORPHA:316Progressive symmetric erythrokeratodermia4
HP:0000962HP:0010765Palmar hyperkeratosis1KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0000962HP:0007556Plantar hyperkeratosis1KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0000962HP:0007556Plantar hyperkeratosis1KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0000962HP:0005595Generalized hyperkeratosis1KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040281 - Very frequent1
HP:0000962HP:0010765Palmar hyperkeratosis1KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0000962HP:0010765Palmar hyperkeratosis1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0000962HP:0007556Plantar hyperkeratosis1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0000962HP:0010765Palmar hyperkeratosis1KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosis100
HP:0000962HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosis100
HP:0000962HP:0010765Palmar hyperkeratosis1KRT1 CL E G H38486412OMIM:113800Epidermolytic hyperkeratosis100
HP:0000962HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412OMIM:113800Epidermolytic hyperkeratosis100
HP:0000962HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0000962HP:0007543Epidermal hyperkeratosis1KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0000962HP:0010765Palmar hyperkeratosis1KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0000962HP:0010765Palmar hyperkeratosis1KRT1 CL E G H38486412ORPHA:79503Ichthyosis hystrix of Curth-Macklin100
HP:0000962HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:79503Ichthyosis hystrix of Curth-Macklin100
HP:0000962HP:0010765Palmar hyperkeratosis1KRT1 CL E G H38486412OMIM:607654KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3100
HP:0000962HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412OMIM:607654KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3100
HP:0000962HP:0010765Palmar hyperkeratosis1KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratoderma100
HP:0000962HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratoderma100
HP:0000962HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412OMIM:144200Palmoplantar keratoderma, epidermolytic.100
HP:0000962HP:0010765Palmar hyperkeratosis1KRT1 CL E G H38486412OMIM:144200Palmoplantar keratoderma, epidermolytic.100
HP:0000962HP:0010765Palmar hyperkeratosis1KRT1 CL E G H38486412OMIM:600962PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK100
HP:0000962HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412OMIM:600962PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK100
HP:0000962HP:0007556Plantar hyperkeratosis1KRT1 CL E G H38486412ORPHA:50942Striate palmoplantar keratoderma100
HP:0000962HP:0010765Palmar hyperkeratosis1KRT1 CL E G H38486412ORPHA:50942Striate palmoplantar keratoderma100
HP:0000962HP:0007556Plantar hyperkeratosis1KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosis45
HP:0000962HP:0010765Palmar hyperkeratosis1KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosis45
HP:0000962HP:0010765Palmar hyperkeratosis1KRT10 CL E G H38586413OMIM:113800Epidermolytic hyperkeratosis45
HP:0000962HP:0007556Plantar hyperkeratosis1KRT10 CL E G H38586413OMIM:113800Epidermolytic hyperkeratosis</