Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the skin (HP:0000951)help
Parent Node:
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Abnormality of skin morphology (HP:0011121)help
..Starting node
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Thickened skin (HP:0001072)help
Term ID: 1072
Name: Thickened skin
Synonym: Diffusely thickened skin; Pachydermia; Thick skin; Thickened skin
Definition: Laminar thickening of skin.
Comments:
Reference: HP:0001072
Genes and Diseases:
 
       Child Nodes:
........expandEpidermal thickening (HP:0011368) help
................... HP:0000956 Acanthosis nigricans
................... HP:0000962 Hyperkeratosis
................... HP:0001036 Parakeratosis
................... HP:0007439 Generalized keratosis follicularis
................... HP:0008064 Ichthyosis
................... HP:0025114 Hypergranulosis
................... HP:0040162 Orthokeratosis
................... HP:0200016 Acrokeratosis
................... HP:0200044 Porokeratosis
........expandSclerodactyly (HP:0011838) help
........expandMorphea (HP:0012344) help
........expandScleroderma (HP:0100324) help
................... HP:0550003 Proximal scleroderma

 Sister Nodes: 
..expandAbnormal blistering of the skin (HP:0008066) help
..expandAbnormal cutaneous collagen fibril morphology (HP:0031512) help
..expandAbnormal cutaneous elastic fiber morphology (HP:0025082) help
..expandAbnormal dermoepidermal junction morphology (HP:0031538) help
..expandAbnormal elasticity of skin (HP:0010647) help
..expandAbnormal epidermal morphology (HP:0011124) help
..expandAbnormality of skin pigmentation (HP:0001000) help
..expandDermal translucency (HP:0010648) help
..expandDry skin (HP:0000958) help
..expandElevated dermal desmosine content (HP:0025083) help
..expandGeneralized abnormality of skin (HP:0011354) help
..expandLichenification (HP:0100725) help
..expandLocalized skin lesion (HP:0011355) help
..expandOchronosis (HP:0030764) help
..expandPallor (HP:0000980) help
..expandPoikiloderma (HP:0001029) help
..expandRegional abnormality of skin (HP:0011356) help
..expandStiff skin (HP:0030053) 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:0001072HP:0001072Thickened skin0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0001072HP:0001072Thickened skin0AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0001072HP:0001072Thickened skin0AAGAB CL E G H7971925662OMIM:148600Palmoplantar keratoderma, punctate type IA7
HP:0001072HP:0001072Thickened skin0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0001072HP:0001072Thickened skin0ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythroderma130
HP:0001072HP:0001072Thickened skin0ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosis130
HP:0001072HP:0001072Thickened skin0ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A130
HP:0001072HP:0001072Thickened skin0ABCA12 CL E G H2615414637OMIM:242500Ichthyosis, congenital, autosomal recessive 4B130
HP:0001072HP:0001072Thickened skin0ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosis130
HP:0001072HP:0001072Thickened skin0ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathy254
HP:0001072HP:0001072Thickened skin0ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome90
HP:0001072HP:0001072Thickened skin0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosis90
HP:0001072HP:0001072Thickened skin0ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathy208
HP:0001072HP:0001072Thickened skin0ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathy307
HP:0001072HP:0001072Thickened skin0ADA CL E G H100186ORPHA:39041Omenn syndromeHP:0040282 - Frequent75
HP:0001072HP:0001072Thickened skin0ADAM10 CL E G H102188OMIM:615537Reticulate acropigmentation of kitamura7
HP:0001072HP:0001072Thickened skin0ADAMTS10 CL E G H8179413201ORPHA:3449Weill-Marchesani syndromeHP:0040282 - Frequent63
HP:0001072HP:0001072Thickened skin0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 1.63
HP:0001072HP:0001072Thickened skin0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive165
HP:0001072HP:0001072Thickened skin0ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 1.72
HP:0001072HP:0001072Thickened skin0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0001072HP:0001072Thickened skin0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophy85
HP:0001072HP:0001072Thickened skin0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 185
HP:0001072HP:0001072Thickened skin0AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndrome5
HP:0001072HP:0001072Thickened skin0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040281 - Very frequent95
HP:0001072HP:0001072Thickened skin0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0001072HP:0001072Thickened skin0AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0001072HP:0001072Thickened skin0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040281 - Very frequent54
HP:0001072HP:0001072Thickened skin0AKT1 CL E G H207391OMIM:176920Proteus syndrome, somatic54
HP:0001072HP:0001072Thickened skin0AKT2 CL E G H208392ORPHA:79085AKT2-related familial partial lipodystrophy12
HP:0001072HP:0001072Thickened skin0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndrome87
HP:0001072HP:0001072Thickened skin0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome87
HP:0001072HP:0001072Thickened skin0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0001072HP:0001072Thickened skin0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0001072HP:0001072Thickened skin0ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythroderma75
HP:0001072HP:0001072Thickened skin0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0001072HP:0001072Thickened skin0ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosis75
HP:0001072HP:0001072Thickened skin0ALOX12B CL E G H242430ORPHA:281122Self-improving collodion baby75
HP:0001072HP:0001072Thickened skin0ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythroderma63
HP:0001072HP:0001072Thickened skin0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0001072HP:0001072Thickened skin0ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 363
HP:0001072HP:0001072Thickened skin0ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosis63
HP:0001072HP:0001072Thickened skin0ALOXE3 CL E G H5934413743ORPHA:281122Self-improving collodion baby63
HP:0001072HP:0001072Thickened skin0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 12
HP:0001072HP:0001072Thickened skin0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0001072HP:0001072Thickened skin0ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathy95
HP:0001072HP:0001072Thickened skin0ANOS1 CL E G H37306211ORPHA:478Kallmann syndrome65
HP:0001072HP:0001072Thickened skin0ANTXR2 CL E G H11842921732OMIM:228600Hyaline fibromatosis syndrome49
HP:0001072HP:0001072Thickened skin0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0001072HP:0001072Thickened skin0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0001072HP:0001072Thickened skin0AP1B1 CL E G H162554ORPHA:171851MEDNIK syndrome
HP:0001072HP:0001072Thickened skin0AP1S1 CL E G H1174559ORPHA:171851MEDNIK syndrome1
HP:0001072HP:0001072Thickened skin0AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma1
HP:0001072HP:0001072Thickened skin0AQP5 CL E G H362638ORPHA:2337Non-epidermolytic palmoplantar keratoderma5
HP:0001072HP:0001072Thickened skin0AQP5 CL E G H362638OMIM:600231PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE; PPKB5
HP:0001072HP:0001072Thickened skin0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0001072HP:0001072Thickened skin0ARSL CL E G H415719OMIM:302950Chondrodysplasia punctata 1, X-linked recessive
HP:0001072HP:0001072Thickened skin0ASPRV1 CL E G H15151626321OMIM:146750Ichthyosis, lamellar, autosomal dominant1
HP:0001072HP:0001072Thickened skin0ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosis1
HP:0001072HP:0001072Thickened skin0ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 171
HP:0001072HP:0001072Thickened skin0ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 15
HP:0001072HP:0001072Thickened skin0ATL3 CL E G H2592324526OMIM:615632Neuropathy, hereditary sensory, type IF5
HP:0001072HP:0001072Thickened skin0ATP2A2 CL E G H488812OMIM:101900Acrokeratosis verruciformis86
HP:0001072HP:0001072Thickened skin0ATP2A2 CL E G H488812ORPHA:79151Acrokeratosis verruciformis of Hopf86
HP:0001072HP:0001072Thickened skin0ATP2A2 CL E G H488812ORPHA:218Darier diseaseHP:0040282 - Frequent86
HP:0001072HP:0001072Thickened skin0ATP2A2 CL E G H488812OMIM:124200Darier-White disease86
HP:0001072HP:0001072Thickened skin0ATP2C1 CL E G H2703213211ORPHA:2841Familial benign chronic pemphigus56
HP:0001072HP:0001072Thickened skin0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040282 - Frequent192
HP:0001072HP:0001072Thickened skin0BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathy204
HP:0001072HP:0001072Thickened skin0BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathy
HP:0001072HP:0001072Thickened skin0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0001072HP:0001072Thickened skin0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0001072HP:0001072Thickened skin0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0001072HP:0001072Thickened skin0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophy105
HP:0001072HP:0001072Thickened skin0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2105
HP:0001072HP:0001072Thickened skin0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophy105
HP:0001072HP:0001072Thickened skin0CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathy
HP:0001072HP:0001072Thickened skin0CARD14 CL E G H7909216446OMIM:173200Pityriasis rubra pilaris33
HP:0001072HP:0001072Thickened skin0CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilarisHP:0040282 - Frequent33
HP:0001072HP:0001072Thickened skin0CARD14 CL E G H7909216446OMIM:602723PSORIASIS 2; PSORS233
HP:0001072HP:0001072Thickened skin0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0001072HP:0001072Thickened skin0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0001072HP:0001072Thickened skin0CAST CL E G H8311515OMIM:616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads4
HP:0001072HP:0001072Thickened skin0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophy11
HP:0001072HP:0001072Thickened skin0CAV1 CL E G H8571527OMIM:612526Lipodystrophy, congenital generalized, type 311
HP:0001072HP:0001072Thickened skin0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0001072HP:0001072Thickened skin0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophy48
HP:0001072HP:0001072Thickened skin0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndrome
HP:0001072HP:0001072Thickened skin0CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoides
HP:0001072HP:0001072Thickened skin0CD28 CL E G H9401653ORPHA:3162Sézary syndrome
HP:0001072HP:0001072Thickened skin0CDH3 CL E G H10011762ORPHA:1573Hypotrichosis with juvenile macular degeneration87
HP:0001072HP:0001072Thickened skin0CDSN CL E G H10411802ORPHA:90368Hypotrichosis simplex of the scalp7
HP:0001072HP:0001072Thickened skin0CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythroderma5
HP:0001072HP:0001072Thickened skin0CERS3 CL E G H20421923752OMIM:615023Ichthyosis, congenital, autosomal recessive 95
HP:0001072HP:0001072Thickened skin0CFTR CL E G H10801884ORPHA:498359Aquagenic palmoplantar keratoderma1371
HP:0001072HP:0001072Thickened skin0CHD7 CL E G H5563620626ORPHA:478Kallmann syndrome515
HP:0001072HP:0001072Thickened skin0CHD7 CL E G H5563620626ORPHA:39041Omenn syndromeHP:0040282 - Frequent515
HP:0001072HP:0001072Thickened skin0CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type53
HP:0001072HP:0001072Thickened skin0CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophy8
HP:0001072HP:0001072Thickened skin0CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 58
HP:0001072HP:0001072Thickened skin0CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0001072HP:0001072Thickened skin0CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis11
HP:0001072HP:0001072Thickened skin0CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndrome11
HP:0001072HP:0001072Thickened skin0CLEC7A CL E G H6458114558ORPHA:1334Chronic mucocutaneous candidiasis3
HP:0001072HP:0001072Thickened skin0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0001072HP:0001072Thickened skin0COG6 CL E G H5751118621ORPHA:363523Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome71
HP:0001072HP:0001072Thickened skin0COG6 CL E G H5751118621OMIM:615328Shaheen syndrome71
HP:0001072HP:0001072Thickened skin0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0001072HP:0001072Thickened skin0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0001072HP:0001072Thickened skin0COL17A1 CL E G H13082194ORPHA:79402Intermediate generalized junctional epidermolysis bullosa129
HP:0001072HP:0001072Thickened skin0COL1A1 CL E G H12772197ORPHA:31112Dermatofibrosarcoma protuberansHP:0040281 - Very frequent373
HP:0001072HP:0001072Thickened skin0COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked678
HP:0001072HP:0001072Thickened skin0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0001072HP:0001072Thickened skin0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0001072HP:0001072Thickened skin0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0001072HP:0001072Thickened skin0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0001072HP:0001072Thickened skin0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0001072HP:0001072Thickened skin0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0001072HP:0001072Thickened skin0COL7A1 CL E G H12942214ORPHA:89843Dystrophic epidermolysis bullosa pruriginosa263
HP:0001072HP:0001072Thickened skin0COL7A1 CL E G H12942214OMIM:131850Epidermolysis bullosa dystrophica, pretibial263
HP:0001072HP:0001072Thickened skin0COL7A1 CL E G H12942214ORPHA:158673Localized dystrophic epidermolysis bullosa, acral form263
HP:0001072HP:0001072Thickened skin0COL7A1 CL E G H12942214ORPHA:79410Localized dystrophic epidermolysis bullosa, pretibial form263
HP:0001072HP:0001072Thickened skin0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0001072HP:0001072Thickened skin0CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathy46
HP:0001072HP:0001072Thickened skin0CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathy104
HP:0001072HP:0001072Thickened skin0CSTA CL E G H14752481ORPHA:263534Acral peeling skin syndrome4
HP:0001072HP:0001072Thickened skin0CSTA CL E G H14752481OMIM:607936Peeling skin syndrome 44
HP:0001072HP:0001072Thickened skin0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0001072HP:0001072Thickened skin0CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoides10
HP:0001072HP:0001072Thickened skin0CTLA4 CL E G H14932505ORPHA:3162Sézary syndrome10
HP:0001072HP:0001072Thickened skin0CTSC CL E G H10752528OMIM:245010Haim-Munk syndrome50
HP:0001072HP:0001072Thickened skin0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndrome50
HP:0001072HP:0001072Thickened skin0CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome50
HP:0001072HP:0001072Thickened skin0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0001072HP:0001072Thickened skin0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0001072HP:0001072Thickened skin0CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiency60
HP:0001072HP:0001072Thickened skin0CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 554
HP:0001072HP:0001072Thickened skin0CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosis54
HP:0001072HP:0001072Thickened skin0DCC CL E G H16302701ORPHA:478Kallmann syndrome36
HP:0001072HP:0001072Thickened skin0DCLRE1C CL E G H6442117642OMIM:603554Omenn syndrome.94
HP:0001072HP:0001072Thickened skin0DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndromeHP:0040282 - Frequent94
HP:0001072HP:0001072Thickened skin0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent30
HP:0001072HP:0001072Thickened skin0DDR2 CL E G H49212731OMIM:618175WARBURG-CINOTTI SYNDROME; WRCN45
HP:0001072HP:0001072Thickened skin0DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathy263
HP:0001072HP:0001072Thickened skin0DIP2B CL E G H5760929284OMIM:136630Mental retardation, Fra12a type4
HP:0001072HP:0001072Thickened skin0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0001072HP:0001072Thickened skin0DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathy1496
HP:0001072HP:0001072Thickened skin0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 35
HP:0001072HP:0001072Thickened skin0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndrome5
HP:0001072HP:0001072Thickened skin0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im55
HP:0001072HP:0001072Thickened skin0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0001072HP:0001072Thickened skin0DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathy55
HP:0001072HP:0001072Thickened skin0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0001072HP:0001072Thickened skin0DSC2 CL E G H18243036OMIM:610476Arrhythmogenic right ventricular dysplasia, familial, 11268
HP:0001072HP:0001072Thickened skin0DSC3 CL E G H18253037OMIM:613102HYPOTRICHOSIS AND RECURRENT SKIN VESICLES2
HP:0001072HP:0001072Thickened skin0DSG1 CL E G H18283048OMIM:615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige16
HP:0001072HP:0001072Thickened skin0DSG1 CL E G H18283048OMIM:148700Keratosis palmoplantaris striata I16
HP:0001072HP:0001072Thickened skin0DSG1 CL E G H18283048ORPHA:50942Striate palmoplantar keratoderma16
HP:0001072HP:0001072Thickened skin0DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathy358
HP:0001072HP:0001072Thickened skin0DSG4 CL E G H14740921307OMIM:607903Hypotrichosis 663
HP:0001072HP:0001072Thickened skin0DSG4 CL E G H14740921307ORPHA:573Monilethrix63
HP:0001072HP:0001072Thickened skin0DSP CL E G H18323052OMIM:605676Cardiomyopathy, dilated, with woolly hair and keratoderma747
HP:0001072HP:0001072Thickened skin0DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis747
HP:0001072HP:0001072Thickened skin0DSP CL E G H18323052ORPHA:65282Carvajal syndrome747
HP:0001072HP:0001072Thickened skin0DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathy747
HP:0001072HP:0001072Thickened skin0DSP CL E G H18323052OMIM:612908Keratosis palmoplantaris striata II747
HP:0001072HP:0001072Thickened skin0DSP CL E G H18323052OMIM:607655Skin fragility-woolly hair syndrome747
HP:0001072HP:0001072Thickened skin0DSP CL E G H18323052ORPHA:50942Striate palmoplantar keratoderma747
HP:0001072HP:0001072Thickened skin0DUSP6 CL E G H18483072ORPHA:478Kallmann syndrome4
HP:0001072HP:0001072Thickened skin0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant51
HP:0001072HP:0001072Thickened skin0EBP CL E G H106823133OMIM:300960Mend syndrome51
HP:0001072HP:0001072Thickened skin0EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0001072HP:0001072Thickened skin0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0001072HP:0001072Thickened skin0ECM1 CL E G H18933153ORPHA:530Lipoid proteinosisHP:0040281 - Very frequent14
HP:0001072HP:0001072Thickened skin0ECM1 CL E G H18933153OMIM:247100Urbach-Wiethe disease14
HP:0001072HP:0001072Thickened skin0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndrome1
HP:0001072HP:0001072Thickened skin0ELMO2 CL E G H6391617233ORPHA:3019Ramon syndrome3
HP:0001072HP:0001072Thickened skin0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0001072HP:0001072Thickened skin0ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardation62
HP:0001072HP:0001072Thickened skin0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 3462
HP:0001072HP:0001072Thickened skin0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0001072HP:0001072Thickened skin0ENPP1 CL E G H51673356OMIM:615522Cole disease151
HP:0001072HP:0001072Thickened skin0EPHB4 CL E G H20503395ORPHA:90186Meige disease3
HP:0001072HP:0001072Thickened skin0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0001072HP:0001072Thickened skin0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0001072HP:0001072Thickened skin0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent106
HP:0001072HP:0001072Thickened skin0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0001072HP:0001072Thickened skin0ERCC3 CL E G H20713435OMIM:616390Trichothiodystrophy 2, photosensitive54
HP:0001072HP:0001072Thickened skin0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent54
HP:0001072HP:0001072Thickened skin0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent158
HP:0001072HP:0001072Thickened skin0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent83
HP:0001072HP:0001072Thickened skin0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0001072HP:0001072Thickened skin0ERF CL E G H20773444ORPHA:207Crouzon disease12
HP:0001072HP:0001072Thickened skin0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndrome36
HP:0001072HP:0001072Thickened skin0ESR1 CL E G H20993467OMIM:615363Estrogen resistance13
HP:0001072HP:0001072Thickened skin0ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndrome13
HP:0001072HP:0001072Thickened skin0EXPH5 CL E G H2308630578OMIM:615028Epidermolysis bullosa, nonspecific, autosomal recessive2
HP:0001072HP:0001072Thickened skin0FBN1 CL E G H22003603OMIM:102370Acromicric dysplasia.1361
HP:0001072HP:0001072Thickened skin0FBN1 CL E G H22003603OMIM:614185GELEOPHYSIC DYSPLASIA 2; GPHYSD21361
HP:0001072HP:0001072Thickened skin0FBN1 CL E G H22003603ORPHA:2833Stiff skin syndromeHP:0040281 - Very frequent1361
HP:0001072HP:0001072Thickened skin0FBN1 CL E G H22003603ORPHA:3449Weill-Marchesani syndromeHP:0040282 - Frequent1361
HP:0001072HP:0001072Thickened skin0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant.1361
HP:0001072HP:0001072Thickened skin0FDPS CL E G H22243631ORPHA:79152Disseminated superficial actinic porokeratosis4
HP:0001072HP:0001072Thickened skin0FDPS CL E G H22243631OMIM:616631Porokeratosis 9, multiple types4
HP:0001072HP:0001072Thickened skin0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosa136
HP:0001072HP:0001072Thickened skin0FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0001072HP:0001072Thickened skin0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndrome2
HP:0001072HP:0001072Thickened skin0FGF17 CL E G H88223673ORPHA:478Kallmann syndrome3
HP:0001072HP:0001072Thickened skin0FGF8 CL E G H22533686ORPHA:478Kallmann syndrome17
HP:0001072HP:0001072Thickened skin0FGFR1 CL E G H22603688ORPHA:478Kallmann syndrome172
HP:0001072HP:0001072Thickened skin0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0001072HP:0001072Thickened skin0FGFR2 CL E G H22633689ORPHA:207Crouzon disease175
HP:0001072HP:0001072Thickened skin0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome175
HP:0001072HP:0001072Thickened skin0FGFR3 CL E G H22613690ORPHA:15Achondroplasia145
HP:0001072HP:0001072Thickened skin0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans145
HP:0001072HP:0001072Thickened skin0FGFR3 CL E G H22613690OMIM:612247Crouzon syndrome with acanthosis nigricans145
HP:0001072HP:0001072Thickened skin0FGFR3 CL E G H22613690ORPHA:93262Crouzon syndrome-acanthosis nigricans syndrome145
HP:0001072HP:0001072Thickened skin0FGFR3 CL E G H22613690OMIM:146000HYPOCHONDROPLASIA145
HP:0001072HP:0001072Thickened skin0FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndrome145
HP:0001072HP:0001072Thickened skin0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1145
HP:0001072HP:0001072Thickened skin0FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2145
HP:0001072HP:0001072Thickened skin0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0001072HP:0001072Thickened skin0FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathy36
HP:0001072HP:0001072Thickened skin0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0001072HP:0001072Thickened skin0FITM2 CL E G H12848616135OMIM:618635SIDDIQI SYNDROME; SIDDIS
HP:0001072HP:0001072Thickened skin0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0001072HP:0001072Thickened skin0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency13
HP:0001072HP:0001072Thickened skin0FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathy184
HP:0001072HP:0001072Thickened skin0FLG CL E G H23123748OMIM:146700ICHTHYOSIS VULGARIS63
HP:0001072HP:0001072Thickened skin0FLG CL E G H23123748ORPHA:461Recessive X-linked ichthyosis63
HP:0001072HP:0001072Thickened skin0FLG2 CL E G H38869833276OMIM:618084Peeling skin syndrome 6
HP:0001072HP:0001072Thickened skin0FLRT3 CL E G H237673762ORPHA:478Kallmann syndrome4
HP:0001072HP:0001072Thickened skin0FLT4 CL E G H23243767OMIM:153100Lymphatic malformation 190
HP:0001072HP:0001072Thickened skin0FLT4 CL E G H23243767ORPHA:79452Milroy disease90
HP:0001072HP:0001072Thickened skin0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophy
HP:0001072HP:0001072Thickened skin0FUCA1 CL E G H25174006ORPHA:349Fucosidosis43
HP:0001072HP:0001072Thickened skin0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040282 - Frequent29
HP:0001072HP:0001072Thickened skin0GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathy35
HP:0001072HP:0001072Thickened skin0GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher disease
HP:0001072HP:0001072Thickened skin0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0001072HP:0001072Thickened skin0GINS1 CL E G H983728980OMIM:617827Immunodeficiency 55
HP:0001072HP:0001072Thickened skin0GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0001072HP:0001072Thickened skin0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilis68
HP:0001072HP:0001072Thickened skin0GJA1 CL E G H26974274OMIM:617525Erythrokeratodermia variabilis et progressiva 368
HP:0001072HP:0001072Thickened skin0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0001072HP:0001072Thickened skin0GJA1 CL E G H26974274OMIM:104100Palmoplantar keratoderma with congenital alopecia68
HP:0001072HP:0001072Thickened skin0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0001072HP:0001072Thickened skin0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0001072HP:0001072Thickened skin0GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilans199
HP:0001072HP:0001072Thickened skin0GJB2 CL E G H27064284OMIM:148350Keratoderma, palmoplantar, with deafness199
HP:0001072HP:0001072Thickened skin0GJB2 CL E G H27064284ORPHA:477KID syndromeHP:0040283 - Occasional199
HP:0001072HP:0001072Thickened skin0GJB2 CL E G H27064284OMIM:149200Knuckle pads, leukonychia, and sensorineural deafness199
HP:0001072HP:0001072Thickened skin0GJB2 CL E G H27064284ORPHA:2698Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome199
HP:0001072HP:0001072Thickened skin0GJB2 CL E G H27064284ORPHA:2202Palmoplantar keratoderma-deafness syndrome199
HP:0001072HP:0001072Thickened skin0GJB2 CL E G H27064284OMIM:124500VOHWINKEL SYNDROME; VOWNKL199
HP:0001072HP:0001072Thickened skin0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilis74
HP:0001072HP:0001072Thickened skin0GJB3 CL E G H27074285OMIM:133200Erythrokeratodermia variabilis et progressiva 174
HP:0001072HP:0001072Thickened skin0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilis12
HP:0001072HP:0001072Thickened skin0GJB4 CL E G H1275344286OMIM:617524Erythrokeratodermia variabilis et progressiva 212
HP:0001072HP:0001072Thickened skin0GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0001072HP:0001072Thickened skin0GJB6 CL E G H108044288ORPHA:189Hidrotic ectodermal dysplasia56
HP:0001072HP:0001072Thickened skin0GJB6 CL E G H108044288ORPHA:477KID syndromeHP:0040283 - Occasional56
HP:0001072HP:0001072Thickened skin0GJC2 CL E G H5716517494ORPHA:79452Milroy disease37
HP:0001072HP:0001072Thickened skin0GLA CL E G H27174296ORPHA:324Fabry disease291
HP:0001072HP:0001072Thickened skin0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040283 - Occasional120
HP:0001072HP:0001072Thickened skin0GLS CL E G H27444331OMIM:618339Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0001072HP:0001072Thickened skin0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0001072HP:0001072Thickened skin0GMPPA CL E G H2992622923ORPHA:869Triple A syndrome24
HP:0001072HP:0001072Thickened skin0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001072HP:0001072Thickened skin0GNPTAB CL E G H7915829670OMIM:252600Mucolipidosis III alpha/beta.240
HP:0001072HP:0001072Thickened skin0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040281 - Very frequent240
HP:0001072HP:0001072Thickened skin0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040281 - Very frequent5
HP:0001072HP:0001072Thickened skin0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0001072HP:0001072Thickened skin0GRHL2 CL E G H799772799OMIM:616029Ectodermal dysplasia/short stature syndrome33
HP:0001072HP:0001072Thickened skin0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0001072HP:0001072Thickened skin0GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive2
HP:0001072HP:0001072Thickened skin0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0001072HP:0001072Thickened skin0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0001072HP:0001072Thickened skin0HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathy2
HP:0001072HP:0001072Thickened skin0HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe type2
HP:0001072HP:0001072Thickened skin0HESX1 CL E G H88204877ORPHA:478Kallmann syndrome21
HP:0001072HP:0001072Thickened skin0HFE CL E G H30774886OMIM:176100Porphyria cutanea tarda38
HP:0001072HP:0001072Thickened skin0HLA-B CL E G H31064932ORPHA:29207Reactive arthritis4
HP:0001072HP:0001072Thickened skin0HLA-DRA CL E G H31224947ORPHA:505Graham Little-Piccardi-Lassueur syndrome
HP:0001072HP:0001072Thickened skin0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 155
HP:0001072HP:0001072Thickened skin0HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040281 - Very frequent55
HP:0001072HP:0001072Thickened skin0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0001072HP:0001072Thickened skin0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0001072HP:0001072Thickened skin0HRAS CL E G H32655173OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome113
HP:0001072HP:0001072Thickened skin0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndrome8
HP:0001072HP:0001072Thickened skin0HSD11B1 CL E G H32905208OMIM:614662Cortisone reductase deficiency 25
HP:0001072HP:0001072Thickened skin0IDUA CL E G H34255391OMIM:607015Hurler-Scheie syndrome.115
HP:0001072HP:0001072Thickened skin0IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0001072HP:0001072Thickened skin0IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0001072HP:0001072Thickened skin0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0001072HP:0001072Thickened skin0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti52
HP:0001072HP:0001072Thickened skin0IL17F CL E G H11274416404ORPHA:1334Chronic mucocutaneous candidiasis14
HP:0001072HP:0001072Thickened skin0IL17RA CL E G H237655985ORPHA:1334Chronic mucocutaneous candidiasis196
HP:0001072HP:0001072Thickened skin0IL17RC CL E G H8481818358ORPHA:1334Chronic mucocutaneous candidiasis4
HP:0001072HP:0001072Thickened skin0IL17RD CL E G H5475617616ORPHA:478Kallmann syndrome9
HP:0001072HP:0001072Thickened skin0IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency40
HP:0001072HP:0001072Thickened skin0IL2RB CL E G H35606009OMIM:618495Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001072HP:0001072Thickened skin0IL2RG CL E G H35616010ORPHA:39041Omenn syndromeHP:0040282 - Frequent48
HP:0001072HP:0001072Thickened skin0IL36RN CL E G H2652515561OMIM:614204PSORIASIS 14, PUSTULAR; PSORS1451
HP:0001072HP:0001072Thickened skin0IL7R CL E G H35756024ORPHA:39041Omenn syndromeHP:0040282 - Frequent94
HP:0001072HP:0001072Thickened skin0INSR CL E G H36436091OMIM:246200Donohue syndrome229
HP:0001072HP:0001072Thickened skin0INSR CL E G H36436091ORPHA:2297Insulin-resistance syndrome type A229
HP:0001072HP:0001072Thickened skin0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040283 - Occasional229
HP:0001072HP:0001072Thickened skin0INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities229
HP:0001072HP:0001072Thickened skin0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndrome229
HP:0001072HP:0001072Thickened skin0ITGB4 CL E G H36916158ORPHA:79402Intermediate generalized junctional epidermolysis bullosa124
HP:0001072HP:0001072Thickened skin0ITGB6 CL E G H36946161ORPHA:2850Alopecia-intellectual disability syndrome8
HP:0001072HP:0001072Thickened skin0JUP CL E G H37286207OMIM:601214Naxos disease222
HP:0001072HP:0001072Thickened skin0JUP CL E G H37286207ORPHA:34217Naxos disease222
HP:0001072HP:0001072Thickened skin0KANK2 CL E G H2595929300OMIM:616099Palmoplantar keratoderma and woolly hair1
HP:0001072HP:0001072Thickened skin0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0001072HP:0001072Thickened skin0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0001072HP:0001072Thickened skin0KDF1 CL E G H12669526624OMIM:617337Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type1
HP:0001072HP:0001072Thickened skin0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilis4
HP:0001072HP:0001072Thickened skin0KDSR CL E G H25314021OMIM:617526Erythrokeratodermia variabilis et progressiva 44
HP:0001072HP:0001072Thickened skin0KDSR CL E G H25314021ORPHA:316Progressive symmetric erythrokeratodermia4
HP:0001072HP:0001072Thickened skin0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0001072HP:0001072Thickened skin0KIT CL E G H38156342ORPHA:79455Cutaneous mastocytomaHP:0040282 - Frequent327
HP:0001072HP:0001072Thickened skin0KITLG CL E G H42546343OMIM:145250Hyperpigmentation, familial progressive9
HP:0001072HP:0001072Thickened skin0KLHL24 CL E G H5480025947OMIM:617294Epidermolysis bullosa simplex, generalized, with scarring and hair loss5
HP:0001072HP:0001072Thickened skin0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0001072HP:0001072Thickened skin0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0001072HP:0001072Thickened skin0KRAS CL E G H38456407OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome196
HP:0001072HP:0001072Thickened skin0KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosis100
HP:0001072HP:0001072Thickened skin0KRT1 CL E G H38486412OMIM:113800Epidermolytic hyperkeratosis100
HP:0001072HP:0001072Thickened skin0KRT1 CL E G H38486412ORPHA:2199Epidermolytic palmoplantar keratoderma100
HP:0001072HP:0001072Thickened skin0KRT1 CL E G H38486412ORPHA:79503Ichthyosis hystrix of Curth-Macklin100
HP:0001072HP:0001072Thickened skin0KRT1 CL E G H38486412OMIM:146590Ichthyosis hystrix, Curth-Macklin type100
HP:0001072HP:0001072Thickened skin0KRT1 CL E G H38486412OMIM:607654KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3100
HP:0001072HP:0001072Thickened skin0KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratoderma100
HP:0001072HP:0001072Thickened skin0KRT1 CL E G H38486412OMIM:144200Palmoplantar keratoderma, epidermolytic100
HP:0001072HP:0001072Thickened skin0KRT1 CL E G H38486412OMIM:600962PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC; NEPPK100
HP:0001072HP:0001072Thickened skin0KRT1 CL E G H38486412ORPHA:50942Striate palmoplantar keratoderma100
HP:0001072HP:0001072Thickened skin0KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosis45
HP:0001072HP:0001072Thickened skin0KRT10 CL E G H38586413OMIM:113800Epidermolytic hyperkeratosis45
HP:0001072HP:0001072Thickened skin0KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular45
HP:0001072HP:0001072Thickened skin0KRT10 CL E G H38586413OMIM:146600Ichthyosis hystrix gravior45
HP:0001072HP:0001072Thickened skin0KRT10 CL E G H38586413OMIM:607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis45
HP:0001072HP:0001072Thickened skin0KRT13 CL E G H38606415OMIM:615785White sponge nevus 246
HP:0001072HP:0001072Thickened skin0KRT14 CL E G H38616416ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form110
HP:0001072HP:0001072Thickened skin0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form110
HP:0001072HP:0001072Thickened skin0KRT14 CL E G H38616416ORPHA:89838Autosomal recessive generalized epidermolysis bullosa simplex110
HP:0001072HP:0001072Thickened skin0KRT14 CL E G H38616416OMIM:125595Dermatopathia pigmentosa reticularis110
HP:0001072HP:0001072Thickened skin0KRT14 CL E G H38616416ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation110
HP:0001072HP:0001072Thickened skin0KRT14 CL E G H38616416OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type110
HP:0001072HP:0001072Thickened skin0KRT14 CL E G H38616416OMIM:131900Epidermolysis bullosa simplex, Koebner type110
HP:0001072HP:0001072Thickened skin0KRT14 CL E G H38616416ORPHA:79400Localized epidermolysis bullosa simplex110
HP:0001072HP:0001072Thickened skin0KRT14 CL E G H38616416OMIM:161000Naegeli syndrome110
HP:0001072HP:0001072Thickened skin0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0001072HP:0001072Thickened skin0KRT16 CL E G H38686423ORPHA:2199Epidermolytic palmoplantar keratoderma27
HP:0001072HP:0001072Thickened skin0KRT16 CL E G H38686423ORPHA:2309Pachyonychia congenita27
HP:0001072HP:0001072Thickened skin0KRT16 CL E G H38686423OMIM:167200Pachyonychia congenita, type 127
HP:0001072HP:0001072Thickened skin0KRT16 CL E G H38686423OMIM:613000Palmoplantar keratoderma, nonepidermolytic, focal 127
HP:0001072HP:0001072Thickened skin0KRT17 CL E G H38726427ORPHA:2309Pachyonychia congenita23
HP:0001072HP:0001072Thickened skin0KRT17 CL E G H38726427OMIM:167210Pachyonychia congenita 223
HP:0001072HP:0001072Thickened skin0KRT2 CL E G H38496439OMIM:146800Ichthyosis, Bullous type67
HP:0001072HP:0001072Thickened skin0KRT2 CL E G H38496439ORPHA:455Superficial epidermolytic ichthyosis67
HP:0001072HP:0001072Thickened skin0KRT5 CL E G H38526442ORPHA:79399Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form173
HP:0001072HP:0001072Thickened skin0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe form173
HP:0001072HP:0001072Thickened skin0KRT5 CL E G H38526442ORPHA:79145Dowling-Degos disease173
HP:0001072HP:0001072Thickened skin0KRT5 CL E G H38526442OMIM:619555EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE; EBS2A173
HP:0001072HP:0001072Thickened skin0KRT5 CL E G H38526442ORPHA:158681Epidermolysis bullosa simplex with circinate migratory erythema173
HP:0001072HP:0001072Thickened skin0KRT5 CL E G H38526442OMIM:131960Epidermolysis bullosa simplex with mottled pigmentation173
HP:0001072HP:0001072Thickened skin0KRT5 CL E G H38526442ORPHA:79397Epidermolysis bullosa simplex with mottled pigmentation173
HP:0001072HP:0001072Thickened skin0KRT5 CL E G H38526442OMIM:131760Epidermolysis bullosa simplex, Dowling-Meara type173
HP:0001072HP:0001072Thickened skin0KRT5 CL E G H38526442ORPHA:79400Localized epidermolysis bullosa simplex173
HP:0001072HP:0001072Thickened skin0KRT6A CL E G H38536443ORPHA:2309Pachyonychia congenita41
HP:0001072HP:0001072Thickened skin0KRT6A CL E G H38536443OMIM:615726Pachyonychia congenita 341
HP:0001072HP:0001072Thickened skin0KRT6B CL E G H38546444ORPHA:2309Pachyonychia congenita4
HP:0001072HP:0001072Thickened skin0KRT6B CL E G H38546444OMIM:615728Pachyonychia congenita 44
HP:0001072HP:0001072Thickened skin0KRT6C CL E G H28688720406OMIM:615735Palmoplantar keratoderma, nonepidermolytic, focal or diffuse4
HP:0001072HP:0001072Thickened skin0KRT74 CL E G H12139128929ORPHA:90368Hypotrichosis simplex of the scalp5
HP:0001072HP:0001072Thickened skin0KRT81 CL E G H38876458ORPHA:573Monilethrix3
HP:0001072HP:0001072Thickened skin0KRT81 CL E G H38876458OMIM:158000MONILETHRIX3
HP:0001072HP:0001072Thickened skin0KRT83 CL E G H38896460OMIM:617756Erythrokeratodermia variabilis et progressiva 565
HP:0001072HP:0001072Thickened skin0KRT83 CL E G H38896460OMIM:158000MONILETHRIX65
HP:0001072HP:0001072Thickened skin0KRT83 CL E G H38896460ORPHA:573Monilethrix65
HP:0001072HP:0001072Thickened skin0KRT83 CL E G H38896460ORPHA:316Progressive symmetric erythrokeratodermia65
HP:0001072HP:0001072Thickened skin0KRT86 CL E G H38926463OMIM:158000MONILETHRIX10
HP:0001072HP:0001072Thickened skin0KRT86 CL E G H38926463ORPHA:573Monilethrix10
HP:0001072HP:0001072Thickened skin0KRT9 CL E G H38576447ORPHA:2199Epidermolytic palmoplantar keratoderma66
HP:0001072HP:0001072Thickened skin0KRT9 CL E G H38576447OMIM:144200Palmoplantar keratoderma, epidermolytic66
HP:0001072HP:0001072Thickened skin0LAMA3 CL E G H39096483ORPHA:79402Intermediate generalized junctional epidermolysis bullosa116
HP:0001072HP:0001072Thickened skin0LAMA4 CL E G H39106484ORPHA:154Familial isolated dilated cardiomyopathy279
HP:0001072HP:0001072Thickened skin0LAMB3 CL E G H39146490OMIM:226650Epidermolysis bullosa, junctional, Non-Herlitz type167
HP:0001072HP:0001072Thickened skin0LAMB3 CL E G H39146490ORPHA:79402Intermediate generalized junctional epidermolysis bullosa167
HP:0001072HP:0001072Thickened skin0LAMC2 CL E G H39186493ORPHA:79402Intermediate generalized junctional epidermolysis bullosa135
HP:0001072HP:0001072Thickened skin0LARP7 CL E G H5157424912ORPHA:319671Alazami syndromeHP:0040282 - Frequent16
HP:0001072HP:0001072Thickened skin0LBR CL E G H39306518ORPHA:779Reynolds syndrome70
HP:0001072HP:0001072Thickened skin0LBR CL E G H39306518OMIM:613471Reynolds syndrome70
HP:0001072HP:0001072Thickened skin0LDB3 CL E G H1115515710ORPHA:154Familial isolated dilated cardiomyopathy286
HP:0001072HP:0001072Thickened skin0LDHA CL E G H39396535ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency35
HP:0001072HP:0001072Thickened skin0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndrome68
HP:0001072HP:0001072Thickened skin0LEMD3 CL E G H2359228887ORPHA:166119Isolated osteopoikilosis68
HP:0001072HP:0001072Thickened skin0LIG4 CL E G H39816601ORPHA:39041Omenn syndromeHP:0040282 - Frequent88
HP:0001072HP:0001072Thickened skin0LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophy7
HP:0001072HP:0001072Thickened skin0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0001072HP:0001072Thickened skin0LIPN CL E G H64341823452OMIM:613943Ichthyosis, congenital, autosomal recessive 81
HP:0001072HP:0001072Thickened skin0LIPN CL E G H64341823452ORPHA:313Lamellar ichthyosis1
HP:0001072HP:0001072Thickened skin0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0001072HP:0001072Thickened skin0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy645
HP:0001072HP:0001072Thickened skin0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophy645
HP:0001072HP:0001072Thickened skin0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathy645
HP:0001072HP:0001072Thickened skin0LMNA CL E G H40006636ORPHA:154Familial isolated dilated cardiomyopathy645
HP:0001072HP:0001072Thickened skin0LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan type645
HP:0001072HP:0001072Thickened skin0LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling type645
HP:0001072HP:0001072Thickened skin0LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndrome645
HP:0001072HP:0001072Thickened skin0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0001072HP:0001072Thickened skin0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathy645
HP:0001072HP:0001072Thickened skin0LMNA CL E G H40006636OMIM:619793RESTRICTIVE DERMOPATHY 2; RSDM2645
HP:0001072HP:0001072Thickened skin0LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosis
HP:0001072HP:0001072Thickened skin0LORICRIN CL E G H40146663ORPHA:316Progressive symmetric erythrokeratodermia
HP:0001072HP:0001072Thickened skin0LORICRIN CL E G H40146663OMIM:604117Vohwinkel syndrome, variant form
HP:0001072HP:0001072Thickened skin0LRP1 CL E G H40356692ORPHA:79100Atrophoderma vermiculata4
HP:0001072HP:0001072Thickened skin0LSS CL E G H40476708ORPHA:2850Alopecia-intellectual disability syndrome2
HP:0001072HP:0001072Thickened skin0LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0001072HP:0001072Thickened skin0LTBP2 CL E G H40536715ORPHA:3449Weill-Marchesani syndromeHP:0040282 - Frequent123
HP:0001072HP:0001072Thickened skin0LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 3.12
HP:0001072HP:0001072Thickened skin0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0001072HP:0001072Thickened skin0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0001072HP:0001072Thickened skin0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0001072HP:0001072Thickened skin0MAP2K1 CL E G H56046840OMIM:615279Cardiofaciocutaneous syndrome 3134
HP:0001072HP:0001072Thickened skin0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0001072HP:0001072Thickened skin0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0001072HP:0001072Thickened skin0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040281 - Very frequent4
HP:0001072HP:0001072Thickened skin0MARS1 CL E G H41416898OMIM:619692TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0001072HP:0001072Thickened skin0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndrome22
HP:0001072HP:0001072Thickened skin0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndrome22
HP:0001072HP:0001072Thickened skin0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0001072HP:0001072Thickened skin0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0001072HP:0001072Thickened skin0MBTPS2 CL E G H5136015455ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent22
HP:0001072HP:0001072Thickened skin0MBTPS2 CL E G H5136015455OMIM:300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked22
HP:0001072HP:0001072Thickened skin0MC4R CL E G H41606932ORPHA:71529Obesity due to melanocortin 4 receptor deficiency54
HP:0001072HP:0001072Thickened skin0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IV78
HP:0001072HP:0001072Thickened skin0MDFIC CL E G H2996928870OMIM:620014
HP:0001072HP:0001072Thickened skin0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy.64
HP:0001072HP:0001072Thickened skin0MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF32
HP:0001072HP:0001072Thickened skin0MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0001072HP:0001072Thickened skin0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0001072HP:0001072Thickened skin0MSMO1 CL E G H630710545OMIM:616834Microcephaly, congenital cataract, and psoriasiform dermatitis3
HP:0001072HP:0001072Thickened skin0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001072HP:0001072Thickened skin0MVD CL E G H45977529ORPHA:79152Disseminated superficial actinic porokeratosis2
HP:0001072HP:0001072Thickened skin0MVD CL E G H45977529OMIM:614714POROKERATOSIS 7, MULTIPLE TYPES; POROK72
HP:0001072HP:0001072Thickened skin0MVK CL E G H45987530ORPHA:79152Disseminated superficial actinic porokeratosis150
HP:0001072HP:0001072Thickened skin0MVK CL E G H45987530OMIM:175900Porokeratosis 3, multiple types150
HP:0001072HP:0001072Thickened skin0MVK CL E G H45987530ORPHA:735Porokeratosis of Mibelli150
HP:0001072HP:0001072Thickened skin0MYBPC3 CL E G H46077551ORPHA:154Familial isolated dilated cardiomyopathy1143
HP:0001072HP:0001072Thickened skin0MYH6 CL E G H46247576ORPHA:154Familial isolated dilated cardiomyopathy452
HP:0001072HP:0001072Thickened skin0MYH7 CL E G H46257577ORPHA:154Familial isolated dilated cardiomyopathy1269
HP:0001072HP:0001072Thickened skin0MYPN CL E G H8466523246ORPHA:154Familial isolated dilated cardiomyopathy217
HP:0001072HP:0001072Thickened skin0NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 147
HP:0001072HP:0001072Thickened skin0NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 247
HP:0001072HP:0001072Thickened skin0NAGA CL E G H46687631OMIM:609242Kanzaki disease47
HP:0001072HP:0001072Thickened skin0NDNF CL E G H7962526256ORPHA:478Kallmann syndrome
HP:0001072HP:0001072Thickened skin0NECTIN1 CL E G H58189706OMIM:225060Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0001072HP:0001072Thickened skin0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome4
HP:0001072HP:0001072Thickened skin0NECTIN4 CL E G H8160719688OMIM:613573Ectodermal dysplasia-syndactyly syndrome 17
HP:0001072HP:0001072Thickened skin0NEK9 CL E G H9175418591ORPHA:64754Nevus comedonicus syndrome9
HP:0001072HP:0001072Thickened skin0NEU1 CL E G H47587758ORPHA:812Sialidosis type 143
HP:0001072HP:0001072Thickened skin0NEXN CL E G H9162429557ORPHA:154Familial isolated dilated cardiomyopathy167
HP:0001072HP:0001072Thickened skin0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040282 - Frequent1952
HP:0001072HP:0001072Thickened skin0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0001072HP:0001072Thickened skin0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 127
HP:0001072HP:0001072Thickened skin0NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythroderma60
HP:0001072HP:0001072Thickened skin0NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 660
HP:0001072HP:0001072Thickened skin0NIPAL4 CL E G H34893828018ORPHA:313Lamellar ichthyosis60
HP:0001072HP:0001072Thickened skin0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0001072HP:0001072Thickened skin0NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healing37
HP:0001072HP:0001072Thickened skin0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndrome217
HP:0001072HP:0001072Thickened skin0NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0001072HP:0001072Thickened skin0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0001072HP:0001072Thickened skin0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 117
HP:0001072HP:0001072Thickened skin0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0001072HP:0001072Thickened skin0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0001072HP:0001072Thickened skin0NRAS CL E G H48937989OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome102
HP:0001072HP:0001072Thickened skin0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0001072HP:0001072Thickened skin0NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 102
HP:0001072HP:0001072Thickened skin0ORAI1 CL E G H8487625896ORPHA:3204Stormorken-Sjaastad-Langslet syndrome19
HP:0001072HP:0001072Thickened skin0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0001072HP:0001072Thickened skin0PCSK1 CL E G H51228743ORPHA:71528Obesity due to prohormone convertase I deficiency65
HP:0001072HP:0001072Thickened skin0PDGFB CL E G H51558800ORPHA:31112Dermatofibrosarcoma protuberansHP:0040281 - Very frequent9
HP:0001072HP:0001072Thickened skin0PDGFRB CL E G H51598804OMIM:601812Premature aging syndrome, Penttinen type28
HP:0001072HP:0001072Thickened skin0PEPD CL E G H51848840ORPHA:742Prolidase deficiency66
HP:0001072HP:0001072Thickened skin0PERP CL E G H6406517637OMIM:619209ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7; EKVP7
HP:0001072HP:0001072Thickened skin0PERP CL E G H6406517637ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent
HP:0001072HP:0001072Thickened skin0PERP CL E G H6406517637OMIM:619208OLMSTED SYNDROME 2; OLMS2
HP:0001072HP:0001072Thickened skin0PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndrome169
HP:0001072HP:0001072Thickened skin0PEX1 CL E G H51898850ORPHA:772Infantile Refsum disease169
HP:0001072HP:0001072Thickened skin0PEX10 CL E G H51928851ORPHA:772Infantile Refsum disease75
HP:0001072HP:0001072Thickened skin0PEX11B CL E G H87998853ORPHA:772Infantile Refsum disease4
HP:0001072HP:0001072Thickened skin0PEX12 CL E G H51938854ORPHA:772Infantile Refsum disease65
HP:0001072HP:0001072Thickened skin0PEX13 CL E G H51948855ORPHA:772Infantile Refsum disease66
HP:0001072HP:0001072Thickened skin0PEX14 CL E G H51958856ORPHA:772Infantile Refsum disease46
HP:0001072HP:0001072Thickened skin0PEX16 CL E G H94098857ORPHA:772Infantile Refsum disease59
HP:0001072HP:0001072Thickened skin0PEX19 CL E G H58249713ORPHA:772Infantile Refsum disease62
HP:0001072HP:0001072Thickened skin0PEX2 CL E G H58289717ORPHA:772Infantile Refsum disease82
HP:0001072HP:0001072Thickened skin0PEX26 CL E G H5567022965ORPHA:772Infantile Refsum disease106
HP:0001072HP:0001072Thickened skin0PEX3 CL E G H85048858ORPHA:772Infantile Refsum disease47
HP:0001072HP:0001072Thickened skin0PEX5 CL E G H58309719ORPHA:772Infantile Refsum disease99
HP:0001072HP:0001072Thickened skin0PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndrome98
HP:0001072HP:0001072Thickened skin0PEX6 CL E G H51908859ORPHA:772Infantile Refsum disease98
HP:0001072HP:0001072Thickened skin0PEX7 CL E G H51918860OMIM:614879Peroxisome biogenesis disorder 9B72
HP:0001072HP:0001072Thickened skin0PEX7 CL E G H51918860OMIM:266500Refsum disease72
HP:0001072HP:0001072Thickened skin0PEX7 CL E G H51918860ORPHA:773Refsum disease72
HP:0001072HP:0001072Thickened skin0PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 172
HP:0001072HP:0001072Thickened skin0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form37
HP:0001072HP:0001072Thickened skin0PHYH CL E G H52648940ORPHA:773Refsum disease45
HP:0001072HP:0001072Thickened skin0PHYH CL E G H52648940OMIM:266500Refsum disease45
HP:0001072HP:0001072Thickened skin0PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040283 - Occasional11
HP:0001072HP:0001072Thickened skin0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0001072HP:0001072Thickened skin0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0001072HP:0001072Thickened skin0PIGL CL E G H94878966ORPHA:3474CHIME syndrome36
HP:0001072HP:0001072Thickened skin0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0001072HP:0001072Thickened skin0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0001072HP:0001072Thickened skin0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0001072HP:0001072Thickened skin0PIK3CA CL E G H52908975ORPHA:276280Hemihyperplasia-multiple lipomatosis syndrome162
HP:0001072HP:0001072Thickened skin0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001072HP:0001072Thickened skin0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndrome107
HP:0001072HP:0001072Thickened skin0PKP1 CL E G H53179023OMIM:604536ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME107
HP:0001072HP:0001072Thickened skin0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy759
HP:0001072HP:0001072Thickened skin0PLEC CL E G H53399069OMIM:616487Epidermolysis bullosa simplex with nail dystrophy759
HP:0001072HP:0001072Thickened skin0PLEC CL E G H53399069ORPHA:79401PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement759
HP:0001072HP:0001072Thickened skin0PLIN1 CL E G H53469076OMIM:613877Lipodystrophy, familial partial, type 419
HP:0001072HP:0001072Thickened skin0PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophy19
HP:0001072HP:0001072Thickened skin0PLN CL E G H53509080ORPHA:154Familial isolated dilated cardiomyopathy57
HP:0001072HP:0001072Thickened skin0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0001072HP:0001072Thickened skin0PMVK CL E G H106549141OMIM:175800Porokeratosis 1, multiple types3
HP:0001072HP:0001072Thickened skin0PMVK CL E G H106549141ORPHA:735Porokeratosis of Mibelli3
HP:0001072HP:0001072Thickened skin0PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythroderma47
HP:0001072HP:0001072Thickened skin0PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 1047
HP:0001072HP:0001072Thickened skin0POFUT1 CL E G H2350914988ORPHA:79145Dowling-Degos disease2
HP:0001072HP:0001072Thickened skin0POFUT1 CL E G H2350914988OMIM:615327Dowling-Degos disease 22
HP:0001072HP:0001072Thickened skin0POGLUT1 CL E G H5698322954ORPHA:79145Dowling-Degos disease6
HP:0001072HP:0001072Thickened skin0POGLUT1 CL E G H5698322954OMIM:615696Dowling-Degos disease 46
HP:0001072HP:0001072Thickened skin0POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0001072HP:0001072Thickened skin0POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome731
HP:0001072HP:0001072Thickened skin0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0001072HP:0001072Thickened skin0POMC CL E G H54439201ORPHA:71526Obesity due to pro-opiomelanocortin deficiency27
HP:0001072HP:0001072Thickened skin0POMP CL E G H5137120330OMIM:601952Keratosis linearis with ichthyosis congenita and sclerosing keratoderma2
HP:0001072HP:0001072Thickened skin0POMP CL E G H5137120330ORPHA:281201Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome2
HP:0001072HP:0001072Thickened skin0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophy42
HP:0001072HP:0001072Thickened skin0PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 342
HP:0001072HP:0001072Thickened skin0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophy42
HP:0001072HP:0001072Thickened skin0PPCS CL E G H7971725686ORPHA:154Familial isolated dilated cardiomyopathy
HP:0001072HP:0001072Thickened skin0PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040283 - Occasional41
HP:0001072HP:0001072Thickened skin0PRDM16 CL E G H6397614000ORPHA:154Familial isolated dilated cardiomyopathy148
HP:0001072HP:0001072Thickened skin0PROK2 CL E G H6067518455ORPHA:478Kallmann syndrome9
HP:0001072HP:0001072Thickened skin0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndrome34
HP:0001072HP:0001072Thickened skin0PSAT1 CL E G H2996819129OMIM:616038Neu-Laxova syndrome 227
HP:0001072HP:0001072Thickened skin0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile form27
HP:0001072HP:0001072Thickened skin0PSEN1 CL E G H56639508ORPHA:154Familial isolated dilated cardiomyopathy241
HP:0001072HP:0001072Thickened skin0PSEN2 CL E G H56649509ORPHA:154Familial isolated dilated cardiomyopathy59
HP:0001072HP:0001072Thickened skin0PSENEN CL E G H5585130100OMIM:613736Acne inversa, familial, 2, with or without dowling-degos disease2
HP:0001072HP:0001072Thickened skin0PSENEN CL E G H5585130100ORPHA:79145Dowling-Degos disease2
HP:0001072HP:0001072Thickened skin0PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0001072HP:0001072Thickened skin0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0001072HP:0001072Thickened skin0PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0001072HP:0001072Thickened skin0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0001072HP:0001072Thickened skin0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0001072HP:0001072Thickened skin0PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos disease948
HP:0001072HP:0001072Thickened skin0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040281 - Very frequent948
HP:0001072HP:0001072Thickened skin0RAF1 CL E G H58949829ORPHA:154Familial isolated dilated cardiomyopathy212
HP:0001072HP:0001072Thickened skin0RAG1 CL E G H58969831ORPHA:39041Omenn syndromeHP:0040282 - Frequent127
HP:0001072HP:0001072Thickened skin0RAG1 CL E G H58969831OMIM:603554Omenn syndrome.127
HP:0001072HP:0001072Thickened skin0RAG2 CL E G H58979832OMIM:603554Omenn syndrome.50
HP:0001072HP:0001072Thickened skin0RAG2 CL E G H58979832ORPHA:39041Omenn syndromeHP:0040282 - Frequent50
HP:0001072HP:0001072Thickened skin0RBM20 CL E G H28299627424ORPHA:154Familial isolated dilated cardiomyopathy363
HP:0001072HP:0001072Thickened skin0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2445
HP:0001072HP:0001072Thickened skin0RHBDF2 CL E G H7965120788ORPHA:2198Palmoplantar keratoderma-esophageal carcinoma syndrome80
HP:0001072HP:0001072Thickened skin0RHBDF2 CL E G H7965120788OMIM:148500Tylosis with esophageal cancer80
HP:0001072HP:0001072Thickened skin0RIGI CL E G H2358619102OMIM:616298Singleton-Merten syndrome 2
HP:0001072HP:0001072Thickened skin0RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0001072HP:0001072Thickened skin0RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0001072HP:0001072Thickened skin0RMRP CL E G H602310031ORPHA:39041Omenn syndromeHP:0040282 - Frequent37
HP:0001072HP:0001072Thickened skin0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0001072HP:0001072Thickened skin0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0001072HP:0001072Thickened skin0RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0001072HP:0001072Thickened skin0RSPO1 CL E G H28465421679ORPHA:85112Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome3
HP:0001072HP:0001072Thickened skin0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0001072HP:0001072Thickened skin0RYR1 CL E G H626110483ORPHA:324581Benign Samaritan congenital myopathyHP:0040282 - Frequent1200
HP:0001072HP:0001072Thickened skin0SASH1 CL E G H2332819182OMIM:618373Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma1
HP:0001072HP:0001072Thickened skin0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndrome26
HP:0001072HP:0001072Thickened skin0SCN5A CL E G H633110593ORPHA:154Familial isolated dilated cardiomyopathy1134
HP:0001072HP:0001072Thickened skin0SDHA CL E G H638910680ORPHA:154Familial isolated dilated cardiomyopathy304
HP:0001072HP:0001072Thickened skin0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0001072HP:0001072Thickened skin0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0001072HP:0001072Thickened skin0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0001072HP:0001072Thickened skin0SDR9C7 CL E G H12121429958OMIM:617574Ichthyosis, congenital, autosomal recessive 132
HP:0001072HP:0001072Thickened skin0SDR9C7 CL E G H12121429958ORPHA:313Lamellar ichthyosis2
HP:0001072HP:0001072Thickened skin0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0001072HP:0001072Thickened skin0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndrome14
HP:0001072HP:0001072Thickened skin0SERPINA12 CL E G H14526418359ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
HP:0001072HP:0001072Thickened skin0SERPINB7 CL E G H871013902ORPHA:140966Palmoplantar keratoderma, Nagashima type4
HP:0001072HP:0001072Thickened skin0SERPINB7 CL E G H871013902OMIM:615598Palmoplantar keratoderma, Nagashima type4
HP:0001072HP:0001072Thickened skin0SERPINB8 CL E G H52718952OMIM:617115Peeling skin syndrome 53
HP:0001072HP:0001072Thickened skin0SGCD CL E G H644410807ORPHA:154Familial isolated dilated cardiomyopathy223
HP:0001072HP:0001072Thickened skin0SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 148
HP:0001072HP:0001072Thickened skin0SH3PXD2B CL E G H28559029242ORPHA:137834Frank-Ter Haar syndromeHP:0040281 - Very frequent134
HP:0001072HP:0001072Thickened skin0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0001072HP:0001072Thickened skin0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0001072HP:0001072Thickened skin0SLC17A9 CL E G H6391016192ORPHA:79152Disseminated superficial actinic porokeratosis3
HP:0001072HP:0001072Thickened skin0SLC17A9 CL E G H6391016192OMIM:616063Porokeratosis 8, disseminated superficial Actinic type3
HP:0001072HP:0001072Thickened skin0SLC27A4 CL E G H1099910998OMIM:608649ICHTHYOSIS PREMATURITY SYNDROME; IPS26
HP:0001072HP:0001072Thickened skin0SLC27A4 CL E G H1099910998ORPHA:88621Ichthyosis-prematurity syndrome26
HP:0001072HP:0001072Thickened skin0SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0001072HP:0001072Thickened skin0SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 4HP:0040282 - Frequent42
HP:0001072HP:0001072Thickened skin0SLCO2A1 CL E G H657810955OMIM:167100Hypertrophic osteoarthropathy, primary, autosomal dominant13
HP:0001072HP:0001072Thickened skin0SLCO2A1 CL E G H657810955OMIM:614441Hypertrophic osteoarthropathy, primary, autosomal recessive 213
HP:0001072HP:0001072Thickened skin0SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040281 - Very frequent13
HP:0001072HP:0001072Thickened skin0SLURP1 CL E G H5715218746ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen type15
HP:0001072HP:0001072Thickened skin0SLURP1 CL E G H5715218746ORPHA:87503Mal de Meleda15
HP:0001072HP:0001072Thickened skin0SLURP1 CL E G H5715218746OMIM:248300Meleda disease15
HP:0001072HP:0001072Thickened skin0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0001072HP:0001072Thickened skin0SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040282 - Frequent504
HP:0001072HP:0001072Thickened skin0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0001072HP:0001072Thickened skin0SMARCAD1 CL E G H5691618398ORPHA:1658Absence of fingerprints-congenital milia syndromeHP:0040282 - Frequent6
HP:0001072HP:0001072Thickened skin0SMARCAD1 CL E G H5691618398OMIM:129200Basan syndrome6
HP:0001072HP:0001072Thickened skin0SMARCAD1 CL E G H5691618398OMIM:136000Fingerprints, absence of6
HP:0001072HP:0001072Thickened skin0SMARCAD1 CL E G H5691618398OMIM:181600Huriez syndrome6
HP:0001072HP:0001072Thickened skin0SMARCAD1 CL E G H5691618398ORPHA:384Huriez syndrome6
HP:0001072HP:0001072Thickened skin0SMARCD2 CL E G H660311107OMIM:617475SPECIFIC GRANULE DEFICIENCY 2; SGD23
HP:0001072HP:0001072Thickened skin0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndrome94
HP:0001072HP:0001072Thickened skin0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0001072HP:0001072Thickened skin0SOX10 CL E G H666311190ORPHA:478Kallmann syndrome61
HP:0001072HP:0001072Thickened skin0SOX18 CL E G H5434511194OMIM:137940Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome7
HP:0001072HP:0001072Thickened skin0SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome100
HP:0001072HP:0001072Thickened skin0SPINK5 CL E G H1100515464ORPHA:634Netherton syndrome100
HP:0001072HP:0001072Thickened skin0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndrome5
HP:0001072HP:0001072Thickened skin0SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 154
HP:0001072HP:0001072Thickened skin0SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1149
HP:0001072HP:0001072Thickened skin0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ80
HP:0001072HP:0001072Thickened skin0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDG80
HP:0001072HP:0001072Thickened skin0SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0001072HP:0001072Thickened skin0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary1
HP:0001072HP:0001072Thickened skin0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndrome
HP:0001072HP:0001072Thickened skin0ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 114
HP:0001072HP:0001072Thickened skin0ST14 CL E G H676811344ORPHA:91132Ichthyosis-hypotrichosis syndrome4
HP:0001072HP:0001072Thickened skin0STIM1 CL E G H678611386OMIM:185070Stormorken syndrome31
HP:0001072HP:0001072Thickened skin0STIM1 CL E G H678611386ORPHA:3204Stormorken-Sjaastad-Langslet syndrome31
HP:0001072HP:0001072Thickened skin0STS CL E G H41211425OMIM:308100Ichthyosis, X-linked19
HP:0001072HP:0001072Thickened skin0STS CL E G H41211425ORPHA:461Recessive X-linked ichthyosis19
HP:0001072HP:0001072Thickened skin0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosis19
HP:0001072HP:0001072Thickened skin0SULT2B1 CL E G H682011459OMIM:617571Ichthyosis, congenital, autosomal recessive 144
HP:0001072HP:0001072Thickened skin0SULT2B1 CL E G H682011459ORPHA:313Lamellar ichthyosis4
HP:0001072HP:0001072Thickened skin0SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiency80
HP:0001072HP:0001072Thickened skin0SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency80
HP:0001072HP:0001072Thickened skin0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy1129
HP:0001072HP:0001072Thickened skin0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy508
HP:0001072HP:0001072Thickened skin0TACR3 CL E G H687011528ORPHA:478Kallmann syndrome34
HP:0001072HP:0001072Thickened skin0TAF1A CL E G H901511532ORPHA:154Familial isolated dilated cardiomyopathy
HP:0001072HP:0001072Thickened skin0TAFAZZIN CL E G H690111577ORPHA:154Familial isolated dilated cardiomyopathy
HP:0001072HP:0001072Thickened skin0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0001072HP:0001072Thickened skin0TARS1 CL E G H689711572OMIM:618546Trichothiodystrophy 7, nonphotosensitive
HP:0001072HP:0001072Thickened skin0TAT CL E G H689811573ORPHA:28378Tyrosinemia type 243
HP:0001072HP:0001072Thickened skin0TCAP CL E G H855711610ORPHA:154Familial isolated dilated cardiomyopathy78
HP:0001072HP:0001072Thickened skin0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0001072HP:0001072Thickened skin0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0001072HP:0001072Thickened skin0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2238
HP:0001072HP:0001072Thickened skin0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001072HP:0001072Thickened skin0TGM1 CL E G H705111777ORPHA:281127Acral self-healing collodion baby98
HP:0001072HP:0001072Thickened skin0TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosisHP:0040281 - Very frequent98
HP:0001072HP:0001072Thickened skin0TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythroderma98
HP:0001072HP:0001072Thickened skin0TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 198
HP:0001072HP:0001072Thickened skin0TGM1 CL E G H705111777ORPHA:313Lamellar ichthyosis98
HP:0001072HP:0001072Thickened skin0TGM1 CL E G H705111777ORPHA:281122Self-improving collodion baby98
HP:0001072HP:0001072Thickened skin0TGM5 CL E G H933311781ORPHA:263534Acral peeling skin syndrome44
HP:0001072HP:0001072Thickened skin0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0001072HP:0001072Thickened skin0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy171
HP:0001072HP:0001072Thickened skin0TMPO CL E G H711211875ORPHA:154Familial isolated dilated cardiomyopathy136
HP:0001072HP:0001072Thickened skin0TMPRSS6 CL E G H16465616517ORPHA:209981IRIDA syndrome65
HP:0001072HP:0001072Thickened skin0TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoides
HP:0001072HP:0001072Thickened skin0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndrome
HP:0001072HP:0001072Thickened skin0TNNC1 CL E G H713411943ORPHA:154Familial isolated dilated cardiomyopathy73
HP:0001072HP:0001072Thickened skin0TNNI3 CL E G H713711947ORPHA:154Familial isolated dilated cardiomyopathy180
HP:0001072HP:0001072Thickened skin0TNNT2 CL E G H713911949ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0001072HP:0001072Thickened skin0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0001072HP:0001072Thickened skin0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0001072HP:0001072Thickened skin0TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0001072HP:0001072Thickened skin0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0001072HP:0001072Thickened skin0TPM1 CL E G H716812010ORPHA:154Familial isolated dilated cardiomyopathy230
HP:0001072HP:0001072Thickened skin0TRAF3IP2 CL E G H107581343ORPHA:1334Chronic mucocutaneous candidiasis4
HP:0001072HP:0001072Thickened skin0TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndrome27
HP:0001072HP:0001072Thickened skin0TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome4
HP:0001072HP:0001072Thickened skin0TRIP4 CL E G H932512310OMIM:617066Muscular dystrophy, congenital, Davignon-Chauveau type4
HP:0001072HP:0001072Thickened skin0TRNS1 CL E G H45747497ORPHA:2202Palmoplantar keratoderma-deafness syndrome
HP:0001072HP:0001072Thickened skin0TRPM4 CL E G H5479517993OMIM:618531ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6; EKVP6124
HP:0001072HP:0001072Thickened skin0TRPM4 CL E G H5479517993ORPHA:316Progressive symmetric erythrokeratodermia124
HP:0001072HP:0001072Thickened skin0TRPV3 CL E G H16251418084ORPHA:659Mutilating palmoplantar keratoderma with periorificial keratotic plaquesHP:0040281 - Very frequent151
HP:0001072HP:0001072Thickened skin0TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques151
HP:0001072HP:0001072Thickened skin0TRPV3 CL E G H16251418084OMIM:616400Palmoplantar keratoderma, nonepidermolytic, focal 2151
HP:0001072HP:0001072Thickened skin0TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040283 - Occasional26
HP:0001072HP:0001072Thickened skin0TTN CL E G H727312403ORPHA:154Familial isolated dilated cardiomyopathy7128
HP:0001072HP:0001072Thickened skin0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040281 - Very frequent14
HP:0001072HP:0001072Thickened skin0TXNRD2 CL E G H1058718155ORPHA:154Familial isolated dilated cardiomyopathy85
HP:0001072HP:0001072Thickened skin0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0001072HP:0001072Thickened skin0TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1AHP:0040283 - Occasional146
HP:0001072HP:0001072Thickened skin0TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1BHP:0040283 - Occasional146
HP:0001072HP:0001072Thickened skin0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040283 - Occasional31
HP:0001072HP:0001072Thickened skin0UROD CL E G H738912591OMIM:176100Porphyria cutanea tarda31
HP:0001072HP:0001072Thickened skin0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040282 - Frequent41
HP:0001072HP:0001072Thickened skin0UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic.41
HP:0001072HP:0001072Thickened skin0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0001072HP:0001072Thickened skin0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0001072HP:0001072Thickened skin0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0001072HP:0001072Thickened skin0VCL CL E G H741412665ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0001072HP:0001072Thickened skin0VEGFC CL E G H742412682OMIM:615907Lymphedema, hereditary, ID4
HP:0001072HP:0001072Thickened skin0VIPAS39 CL E G H6389420347OMIM:613404Arthrogryposis, renal dysfunction, and cholestasis 227
HP:0001072HP:0001072Thickened skin0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040282 - Frequent1
HP:0001072HP:0001072Thickened skin0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0001072HP:0001072Thickened skin0VPS33B CL E G H2627612712OMIM:62000963
HP:0001072HP:0001072Thickened skin0VPS33B CL E G H2627612712OMIM:208085Arthrogryposis, renal dysfunction, and cholestasis 163
HP:0001072HP:0001072Thickened skin0WDR11 CL E G H5571713831ORPHA:478Kallmann syndrome10
HP:0001072HP:0001072Thickened skin0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0001072HP:0001072Thickened skin0WNT10A CL E G H8032613829ORPHA:50944Schöpf-Schulz-Passarge syndrome71
HP:0001072HP:0001072Thickened skin0WNT10A CL E G H8032613829OMIM:224750Schopf-Schulz-Passarge syndrome71
HP:0001072HP:0001072Thickened skin0WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 471
HP:0001072HP:0001072Thickened skin0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0001072HP:0001072Thickened skin0WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0001072HP:0001072Thickened skin0WRN CL E G H748612791OMIM:277700Werner syndrome310
HP:0001072HP:0001072Thickened skin0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent34
HP:0001072HP:0001072Thickened skin0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent86
HP:0001072HP:0001072Thickened skin0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction9
HP:0001072HP:0001072Thickened skin0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0001072HP:0001072Thickened skin0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathy83
HP:0001072HP:0001072Thickened skin0ZMPSTE24 CL E G H1026912877OMIM:275210Restrictive dermopathy, lethal83
HP:0001072HP:0001072Thickened skin0