Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin morphology (HP:0011121)help
Parent Node:
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Thickened skin (HP:0001072)help
..Starting node
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Epidermal thickening (HP:0011368)help
Term ID: 11368
Name: Epidermal thickening
Synonym: Abnormality of keratinization
Definition: Thickening of the epidermal layer of the skin.
Comments:
Reference: HP:0011368
Genes and Diseases:
 
       Child Nodes:
........expandAcanthosis nigricans (HP:0000956) help
........expandHyperkeratosis (HP:0000962) help
................... HP:0000222 Gingival hyperkeratosis
................... HP:0000982 Palmoplantar keratoderma
................... HP:0005595 Generalized hyperkeratosis
................... HP:0007390 Hyperkeratosis with erythema
................... HP:0007448 Hyperkeratosis over edematous areas
................... HP:0007468 Perifollicular hyperkeratosis
................... HP:0007490 Linear arrays of macular hyperkeratoses in flexural areas
................... HP:0007501 Streaks of hyperkeratosis along each finger onto the palm
................... HP:0007502 Follicular hyperkeratosis
................... HP:0007543 Epidermal hyperkeratosis
................... HP:0007556 Plantar hyperkeratosis
................... HP:0007570 Hyperkeratosis lenticularis perstans
................... HP:0008392 Subungual hyperkeratosis
................... HP:0008399 Circumungual hyperkeratosis
................... HP:0008410 Subungual hyperkeratotic fragments
................... HP:0010765 Palmar hyperkeratosis
................... HP:0025080 Orthokeratotic hyperkeratosis
................... HP:0031288 Cobblestone-like hyperkeratosis
................... HP:0040009 Hyperparakeratosis
................... HP:0040180 Hyperkeratosis pilaris
................... HP:0045059 Hyperkeratotic papule
........expandParakeratosis (HP:0001036) help
................... HP:0040009 Hyperparakeratosis
........expandGeneralized keratosis follicularis (HP:0007439) help
........expandIchthyosis (HP:0008064) help
................... HP:0007395 Postnatal-onset ichthyosiform erythroderma
................... HP:0007431 Congenital ichthyosiform erythroderma
................... HP:0007503 Generalized ichthyosis
................... HP:0007559 Localized epidermolytic hyperkeratosis
................... HP:0031291 Ichthyosis follicularis
........expandHypergranulosis (HP:0025114) help
........expandOrthokeratosis (HP:0040162) help
........expandAcrokeratosis (HP:0200016) help
........expandPorokeratosis (HP:0200044) help

 Sister Nodes: 
..expandMorphea (HP:0012344) help
..expandSclerodactyly (HP:0011838) help
..expandScleroderma (HP:0100324) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011368HP:0011368Epidermal thickening0 CL E G H
HP:0011368HP:0040162Orthokeratosis1 CL E G H
HP:0011368HP:0008064Ichthyosis1 CL E G H
HP:0011368HP:0200016Acrokeratosis1 CL E G H
HP:0011368HP:0000962Hyperkeratosis1 CL E G H
HP:0011368HP:0025114Hypergranulosis1 CL E G H
HP:0011368HP:0200044Porokeratosis1 CL E G H
HP:0011368HP:0007439Generalized keratosis follicularis1 CL E G H
HP:0011368HP:0001036Parakeratosis1 CL E G H
HP:0011368HP:0000956Acanthosis nigricans1 CL E G H
HP:0011368HP:0005595Generalized hyperkeratosis2 CL E G H
HP:0011368HP:0010765Palmar hyperkeratosis2 CL E G H
HP:0011368HP:0007490Linear arrays of macular hyperkeratoses in flexural areas2 CL E G H
HP:0011368HP:0008392Subungual hyperkeratosis2 CL E G H
HP:0011368HP:0007503Generalized ichthyosis2 CL E G H
HP:0011368HP:0007395Postnatal-onset ichthyosiform erythroderma2 CL E G H
HP:0011368HP:0007502Follicular hyperkeratosis2 CL E G H
HP:0011368HP:0040009Hyperparakeratosis2 CL E G H
HP:0011368HP:0008399Circumungual hyperkeratosis2 CL E G H
HP:0011368HP:0007501Streaks of hyperkeratosis along each finger onto the palm2 CL E G H
HP:0011368HP:0007556Plantar hyperkeratosis2 CL E G H
HP:0011368HP:0045059Hyperkeratotic papule2 CL E G H
HP:0011368HP:0007543Epidermal hyperkeratosis2 CL E G H
HP:0011368HP:0007390Hyperkeratosis with erythema2 CL E G H
HP:0011368HP:0007448Hyperkeratosis over edematous areas2 CL E G H
HP:0011368HP:0033707Perioral hyperkeratosis2 CL E G H
HP:0011368HP:0000222Gingival hyperkeratosis2 CL E G H
HP:0011368HP:0007468Perifollicular hyperkeratosis2 CL E G H
HP:0011368HP:0007559Localized epidermolytic hyperkeratosis2 CL E G H
HP:0011368HP:0031288Cobblestone-like hyperkeratosis2 CL E G H
HP:0011368HP:0007570Hyperkeratosis lenticularis perstans2 CL E G H
HP:0011368HP:0025080Orthokeratotic hyperkeratosis2 CL E G H
HP:0011368HP:0008410Subungual hyperkeratotic fragments2 CL E G H
HP:0011368HP:0007431Congenital ichthyosiform erythroderma2 CL E G H
HP:0011368HP:0031291Ichthyosis follicularis2 CL E G H
HP:0011368HP:0000972Palmoplantar hyperkeratosis3 CL E G H
HP:0011368HP:0007479Congenital nonbullous ichthyosiform erythroderma3 CL E G H
HP:0011368HP:0007475Congenital bullous ichthyosiform erythroderma3 CL E G H
HP:0011368HP:0007508Punctate palmar hyperkeratosis3 CL E G H
HP:0011368HP:0007548Palmoplantar keratosis with erythema and scale4 CL E G H
HP:0011368HP:0007497Focal friction-related palmoplantar hyperkeratosis4 CL E G H
HP:0011368HP:0000982Palmoplantar keratoderma4 CL E G H
HP:0011368HP:0007613Spinous keratoses of palms and soles4 CL E G H
HP:0011368HP:0007447Diffuse palmoplantar hyperkeratosis4 CL E G H
HP:0011368HP:0007404Nonepidermolytic palmoplantar hyperkeratosis4 CL E G H
HP:0011368HP:0007530Punctate palmoplantar hyperkeratosis4 CL E G H
HP:0011368HP:0007553Congenital symmetrical palmoplantar keratosis4 CL E G H
HP:0011368HP:0005588Patchy palmoplantar hyperkeratosis4 CL E G H
HP:0011368HP:0007545Congenital palmoplantar hyperkeratosis4 CL E G H
HP:0011368HP:0007465Honeycomb palmoplantar hyperkeratosis4 CL E G H


Genes (348) :AAAS AAGAB ABCA12 ABCC9 ABHD5 ACTC1 ACTN2 ADAM10 ADAMTS2 AGPAT2 AHSG AIP AKT1 AKT2 ALDH3A2 ALMS1 ALOX12B ALOXE3 ANKRD1 ANOS1 AP1S1 ARSE ATL3 ATP2A2 ATP2C1 BAG3 BLM BRAF BSCL2 CARD14 CARMIL2 CAST CAV1 CAVIN1 CCDC141 CD28 CDH3 CERS3 CHD7 CHKB CIDEC CLDN1 CLEC7A COG6 COL12A1 COL14A1 COL17A1 COL4A5 COL6A1 COL6A2 COL6A3 COL7A1 COX1 COX2 COX3 CRYAB CSRP3 CSTA CTC1 CTLA4 CTSC CUL4B CYP19A1 CYP4F22 DCC DDB2 DDX58 DES DIP2B DKC1 DMD DNAJC21 DOLK DSC2 DSG1 DSG2 DSG4 DSP DUSP6 EBP ECM1 EFL1 ELMO2 ELOVL4 EMD ENPP1 ERCC2 ERCC3 ERCC4 ERCC5 ERF ERMARD ESR1 EXPH5 FDPS FERMT1 FEZF1 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FHL1 FHL2 FKBP14 FKTN FLG FLG2 FLRT3 FLT4 FOS FUCA1 GATAD1 GBA GINS1 GJA1 GJB2 GJB3 GJB4 GJB6 GLA GMPPA GPR101 GRHL2 GTF2E2 GTF2H5 HDAC6 HESX1 HLA-DRA HPGD HRAS HS6ST1 HSD11B1 IKBKG IL17F IL17RA IL17RC IL17RD IL1RN IL36RN INSR ITGB4 ITGB6 JUP KANK2 KDF1 KDSR KISS1R KITLG KLLN KRAS KRT1 KRT10 KRT13 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT6C KRT81 KRT83 KRT86 KRT9 LAMA3 LAMA4 LAMB3 LAMC2 LDB3 LEMD3 LIPE LIPN LMNA LOR MAP2K1 MAP2K2 MBTPS2 MC4R MCOLN1 MPDU1 MSMO1 MVD MVK MYBPC3 MYH6 MYH7 MYPN NAGA ND1 ND4 ND5 ND6 NEBL NECTIN1 NECTIN4 NEK9 NEU1 NEXN NHP2 NIPAL4 NLRP1 NLRP3 NOD2 NOP10 NRAS NSDHL NSMCE2 NSMF ORAI1 PARN PCSK1 PDGFRB PEPD PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHGDH PHYH PIGA PIGL PIK3CA PKP1 PLEC PLIN1 PLN PMVK PNPLA1 POFUT1 POGLUT1 POLA1 POMC POMP PPARG PPCS PRDM16 PROK2 PROKR2 PSAT1 PSEN1 PSEN2 PSENEN PSMB4 PSMB9 PTEN RAF1 RBM20 RECQL4 RHBDF2 RIN2 RIT1 RNU4ATAC RSPO1 RTEL1 SBDS SCN5A SDHA SDHB SDHC SDHD SDR9C7 SEC23B SEMA3A SERPINB7 SERPINB8 SGCD SGPL1 SHOC2 SLC17A9 SLC27A4 SLC29A3 SLCO2A1 SLURP1 SMARCAD1 SNAP29 SOX10 SOX18 SPINK5 SPRY4 SRD5A3 SRP54 ST14 STIM1 STS SULT2B1 SUMF1 SYNE1 SYNE2 TACR3 TAF1A TAT TAZ TCAP TERC TERT TGM1 TGM5 TINF2 TMEM43 TMPO TMPRSS6 TNFRSF1B TNNC1 TNNI3 TNNT2 TP63 TPM1 TRAF3IP2 TRAPPC11 TRIP4 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRPV3 TTN TXNRD2 TYR USB1 VCL VEGFC VIPAS39 VPS33B WDR11 WNT10A WRAP53 WRN XPA XPC XRCC4 ZC4H2 ZMPSTE24 ZNF750

Diseases (359) :148600 313 457 79394 615537 528 608594 2850 963 176920 79085 816 270200 64 203800 281122 242100 478 171851 609313 302950 615632 218 101900 124200 2841 125 115150 1340 613707 363400 269700 2897 173200 602723 618131 612526 613327 2584 1573 615023 602541 435651 615238 59303 607626 1334 614576 301050 131850 550 263534 607936 85293 91 604777 910 616298 136630 811 617052 91131 610768 615508 148700 615821 300960 530 3019 133190 614457 98863 615522 601675 207 75857 785 615363 615028 79152 616631 1555 123790 93262 85165 93274 1860 15 612247 146000 616482 146700 618084 608013 617827 617525 477 494 602540 148210 133200 324 615510 300942 616029 616943 163966 3071 218040 163200 614662 464 308300 612852 614204 769 2297 246200 262190 131800 34217 617337 145250 79503 146590 89838 2309 455 435660 613943 98855 79084 98853 2348 79474 280365 740 151660 604117 85284 2273 300918 71529 609180 616834 614714 735 175900 79280 79279 609242 64754 812 612281 617388 615225 575 90340 613224 308050 617253 3204 71528 601812 772 3220 773 266500 215100 2671 300868 3474 280356 613877 175800 615024 615696 301220 71526 281201 601952 79083 604367 616038 617591 65285 158350 148500 613075 615355 210710 617574 615598 617115 617575 607721 616063 88621 168569 87503 248300 129200 66631 609528 634 612379 91132 602400 185070 281090 461 308100 617571 585 272200 281127 100976 242300 209981 1896 604292 614594 616400 79431 615907 613404 208085 257980 902 616541 610227 869 601277 242500 225410 201 744 610 226650 254090 573 607903 35173 302960 300179 614557 153100 349 505 2199 144200 615785 79399 167200 167210 615726 158000 1662 275210 308205 308800 613573 79351 276280 616487 615327 613736 610644 86923 136000 137940 486815 617066 604173 314580 231550 98907 275630 615109 606545 615328 678 245000 605676 616390 173650 85212 1010 104100 148350 129500 616395 259100 617526 312 113800 607602 609165 125595 131760 131900 146800 617756 79395 225060 3253 280000 615108 226670 256500 79501 154 616295 3162 79402 1775 245010 610476 50942 65282 612908 607655 2908 2710 317 2698 2202 124500 617524 189 2796 601214 616099 316 607654 600962 79400 79397 79396 161000 613000 131960 615728 615735 1306 659 578 742 158668 221016 2198 85112 140966 384 28378 1071 106260 50944 224750
 

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