Human Phenotype Ontology 
Grandparent Node:
expand
Epidermal thickening (HP:0011368)help
Parent Node:
expand
Hyperkeratosis (HP:0000962)help
..Starting node
..expand
Palmoplantar keratoderma (HP:0000982)help
Term ID: 982
Name: Palmoplantar keratoderma
Synonym: Palmar and plantar keratoderma; Thickening of palms and soles
Definition: Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Comments:
Reference: HP:0000982
Genes and Diseases:
 
       Child Nodes:
........expandPatchy palmoplantar keratoderma (HP:0005588) help
........expandNonepidermolytic palmoplantar keratoderma (HP:0007404) help
........expandDiffuse palmoplantar keratoderma (HP:0007435) help
........expandHoneycomb palmoplantar keratoderma (HP:0007465) help
........expandCongenital palmoplantar keratodermia (HP:0007597) help

 Sister Nodes: 
..expandCircumungual hyperkeratosis (HP:0008399) help
..expandCobblestone-like hyperkeratosis (HP:0031288) help
..expandEpidermal hyperkeratosis (HP:0007543) help
..expandFollicular hyperkeratosis (HP:0007502) help
..expandGeneralized hyperkeratosis (HP:0005595) help
..expandGingival hyperkeratosis (HP:0000222) help
..expandHyperkeratosis lenticularis perstans (HP:0007570) help
..expandHyperkeratosis over edematous areas (HP:0007448) help
..expandHyperkeratosis with erythema (HP:0007390) help
..expandHyperkeratotic papule (HP:0045059) help
..expandHyperparakeratosis (HP:0040009) help
..expandLinear arrays of macular hyperkeratoses in flexural areas (HP:0007490) help
..expandobsolete Hyperkeratosis pilaris (HP:0040180) help
..expandOrthokeratotic hyperkeratosis (HP:0025080) help
..expandPalmar hyperkeratosis (HP:0010765) help
..expandPerifollicular hyperkeratosis (HP:0007468) help
..expandPlantar hyperkeratosis (HP:0007556) help
..expandStreaks of hyperkeratosis along each finger onto the palm (HP:0007501) help
..expandSubungual hyperkeratosis (HP:0008392) help
..expandSubungual hyperkeratotic fragments (HP:0008410) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000982HP:0000982Palmoplantar keratoderma0AAAS CL E G H8086869ORPHA118713666605378
HP:0000982HP:0000982Palmoplantar keratoderma0AAGAB CL E G H7971979501ORPHA19125662614888
HP:0000982HP:0000982Palmoplantar keratoderma0ABCA12 CL E G H2615479394ORPHA138114637607800
HP:0000982HP:0000982Palmoplantar keratoderma0ABCA12 CL E G H26154601277Autosomal recessive congenital ichthyosis 4A601277C1832550OMIM138114637607800
HP:0000982HP:0000982Palmoplantar keratoderma0AKT1 CL E G H207201ORPHA1634391164730
HP:0000982HP:0000982Palmoplantar keratoderma0ALOX12B CL E G H24279394ORPHA1298430603741
HP:0000982HP:0000982Palmoplantar keratoderma0ALOX12B CL E G H242242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM1298430603741
HP:0000982HP:0000982Palmoplantar keratoderma0ALOXE3 CL E G H5934479394ORPHA121813743607206
HP:0000982HP:0000982Palmoplantar keratoderma0ALOXE3 CL E G H59344242100Autosomal recessive congenital ichthyosis 2242100C1855792OMIM121813743607206
HP:0000982HP:0000982Palmoplantar keratoderma0ATP2A2 CL E G H488218ORPHA1189812108740
HP:0000982HP:0000982Palmoplantar keratoderma0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA19481097164757
HP:0000982HP:0000982Palmoplantar keratoderma0CARD14 CL E G H790922897Hypogonadism, isolated, hypogonadotropicORPHA179616446607211
HP:0000982HP:0000982Palmoplantar keratoderma0CARD14 CL E G H79092173200Pityriasis rubra pilaris173200C0032027OMIM179616446607211
HP:0000982HP:0000982Palmoplantar keratoderma0CAST CL E G H831616295Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads616295C4225381OMIM11351515114090
HP:0000982HP:0000982Palmoplantar keratoderma0CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA1331653186760
HP:0000982HP:0000982Palmoplantar keratoderma0CERS3 CL E G H20421979394ORPHA117123752615276
HP:0000982HP:0000982Palmoplantar keratoderma0COL14A1 CL E G H737379501ORPHA11632191120324
HP:0000982HP:0000982Palmoplantar keratoderma0CSTA CL E G H1475607936Exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of siemens-like607936C1842797OMIM1342481184600
HP:0000982HP:0000982Palmoplantar keratoderma0CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA11902505123890
HP:0000982HP:0000982Palmoplantar keratoderma0CTSC CL E G H1075678ORPHA12682528602365
HP:0000982HP:0000982Palmoplantar keratoderma0DSC2 CL E G H1824610476Arrhythmogenic right ventricular cardiomyopathy, type 11610476C1864850OMIM112423036125645
HP:0000982HP:0000982Palmoplantar keratoderma0DSG1 CL E G H182850942ORPHA14083048125670
HP:0000982HP:0000982Palmoplantar keratoderma0DSG1 CL E G H1828615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige615508C3809719OMIM14083048125670
HP:0000982HP:0000982Palmoplantar keratoderma0DSG1 CL E G H1828148700Keratosis palmoplantaris striata 1148700C2931122OMIM14083048125670
HP:0000982HP:0000982Palmoplantar keratoderma0DSP CL E G H183250942ORPHA133843052125647
HP:0000982HP:0000982Palmoplantar keratoderma0DSP CL E G H1832615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis615821C4014393OMIM133843052125647
HP:0000982HP:0000982Palmoplantar keratoderma0DSP CL E G H1832605676Dilated cardiomyopathy with woolly hair and keratoderma605676C1854063OMIM133843052125647
HP:0000982HP:0000982Palmoplantar keratoderma0DSP CL E G H1832612908Keratosis palmoplantaris striata II612908C1852127OMIM133843052125647
HP:0000982HP:0000982Palmoplantar keratoderma0ENPP1 CL E G H5167615522Cole disease615522C3809781OMIM14383356173335
HP:0000982HP:0000982Palmoplantar keratoderma0FERMT1 CL E G H556122908ORPHA142115889607900
HP:0000982HP:0000982Palmoplantar keratoderma0FGFR2 CL E G H22631555ORPHA15673689176943
HP:0000982HP:0000982Palmoplantar keratoderma0GJA1 CL E G H26971010ORPHA12214274121014
HP:0000982HP:0000982Palmoplantar keratoderma0GJA1 CL E G H2697104100Alopecia congenita keratosis palmoplantaris104100C1863093OMIM12214274121014
HP:0000982HP:0000982Palmoplantar keratoderma0GJA1 CL E G H2697617525Erythrokeratodermia variabilis et progressiva 3617525C4479619OMIM12214274121014
HP:0000982HP:0000982Palmoplantar keratoderma0GJB2 CL E G H2706477ORPHA15164284121011
HP:0000982HP:0000982Palmoplantar keratoderma0GJB2 CL E G H27062698ORPHA15164284121011
HP:0000982HP:0000982Palmoplantar keratoderma0GJB2 CL E G H27062202Exostoses anetodermia brachydactyly type EORPHA15164284121011
HP:0000982HP:0000982Palmoplantar keratoderma0GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM15164284121011
HP:0000982HP:0000982Palmoplantar keratoderma0GJB4 CL E G H127534617524Erythrokeratodermia variabilis et progressiva 2617524C4479618OMIM1644286605425
HP:0000982HP:0000982Palmoplantar keratoderma0GJB6 CL E G H10804477ORPHA12354288604418
HP:0000982HP:0000982Palmoplantar keratoderma0GJB6 CL E G H10804189Elliott Ludman Teebi syndromeORPHA12354288604418
HP:0000982HP:0000982Palmoplantar keratoderma0GMPPA CL E G H29926869ORPHA111822923615495
HP:0000982HP:0000982Palmoplantar keratoderma0JUP CL E G H372834217ORPHA18926207173325
HP:0000982HP:0000982Palmoplantar keratoderma0JUP CL E G H3728601214Naxos disease601214C1832600OMIM18926207173325
HP:0000982HP:0000982Palmoplantar keratoderma0KANK2 CL E G H25959616099Palmoplantar keratoderma and woolly hair616099C4015202OMIM112229300614610
HP:0000982HP:0000982Palmoplantar keratoderma0KDSR CL E G H2531316Sacral agenesisORPHA1994021136440
HP:0000982HP:0000982Palmoplantar keratoderma0KLLN CL E G H100144748201ORPHA131637212612105
HP:0000982HP:0000982Palmoplantar keratoderma0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14406407190070
HP:0000982HP:0000982Palmoplantar keratoderma0KRT1 CL E G H384850942ORPHA11556412139350
HP:0000982HP:0000982Palmoplantar keratoderma0KRT1 CL E G H38482199ExencephalyORPHA11556412139350
HP:0000982HP:0000982Palmoplantar keratoderma0KRT1 CL E G H3848607654Keratosis palmoplantaris striata 3607654C2931123OMIM11556412139350
HP:0000982HP:0000982Palmoplantar keratoderma0KRT14 CL E G H386179397ORPHA11676416148066
HP:0000982HP:0000982Palmoplantar keratoderma0KRT14 CL E G H386179399ORPHA11676416148066
HP:0000982HP:0000982Palmoplantar keratoderma0KRT14 CL E G H386189838ORPHA11676416148066
HP:0000982HP:0000982Palmoplantar keratoderma0KRT14 CL E G H386179396ORPHA11676416148066
HP:0000982HP:0000982Palmoplantar keratoderma0KRT14 CL E G H3861161000Naegeli-Franceschetti-Jadassohn syndrome161000C0343111OMIM11676416148066
HP:0000982HP:0000982Palmoplantar keratoderma0KRT16 CL E G H38682199ExencephalyORPHA1726423148067
HP:0000982HP:0000982Palmoplantar keratoderma0KRT16 CL E G H38682309Fetal parainfluenza virus type 3 syndromeORPHA1726423148067
HP:0000982HP:0000982Palmoplantar keratoderma0KRT16 CL E G H3868613000Palmoplantar keratoderma, nonepidermolytic, focal613000C2931923OMIM1726423148067
HP:0000982HP:0000982Palmoplantar keratoderma0KRT17 CL E G H38722309Fetal parainfluenza virus type 3 syndromeORPHA1696427148069
HP:0000982HP:0000982Palmoplantar keratoderma0KRT2 CL E G H3849455ORPHA11256439600194
HP:0000982HP:0000982Palmoplantar keratoderma0KRT5 CL E G H385279397ORPHA12586442148040
HP:0000982HP:0000982Palmoplantar keratoderma0KRT5 CL E G H385279399ORPHA12586442148040
HP:0000982HP:0000982Palmoplantar keratoderma0KRT5 CL E G H385279396ORPHA12586442148040
HP:0000982HP:0000982Palmoplantar keratoderma0KRT6A CL E G H38532309Fetal parainfluenza virus type 3 syndromeORPHA1936443148041
HP:0000982HP:0000982Palmoplantar keratoderma0KRT6A CL E G H3853615726Pachyonychia congenita 3615726C3714948OMIM1936443148041
HP:0000982HP:0000982Palmoplantar keratoderma0KRT6B CL E G H38542309Fetal parainfluenza virus type 3 syndromeORPHA1566444148042
HP:0000982HP:0000982Palmoplantar keratoderma0KRT6B CL E G H3854615728Pachyonychia congenita 4615728C3714949OMIM1566444148042
HP:0000982HP:0000982Palmoplantar keratoderma0KRT6C CL E G H286887615735Palmoplantar keratoderma, nonepidermolytic, focal or diffuse615735C3810394OMIM15620406612315
HP:0000982HP:0000982Palmoplantar keratoderma0KRT83 CL E G H3889316Sacral agenesisORPHA11256460602765
HP:0000982HP:0000982Palmoplantar keratoderma0KRT9 CL E G H38572199ExencephalyORPHA11376447607606
HP:0000982HP:0000982Palmoplantar keratoderma0LOR CL E G H4014316Sacral agenesisORPHA16663152445
HP:0000982HP:0000982Palmoplantar keratoderma0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13986840176872
HP:0000982HP:0000982Palmoplantar keratoderma0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15996842601263
HP:0000982HP:0000982Palmoplantar keratoderma0MBTPS2 CL E G H51360659AmyoplasiaORPHA124815455300294
HP:0000982HP:0000982Palmoplantar keratoderma0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM124815455300294
HP:0000982HP:0000982Palmoplantar keratoderma0MBTPS2 CL E G H51360300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked300918C3806745OMIM124815455300294
HP:0000982HP:0000982Palmoplantar keratoderma0MT-TS1 CL E G H45742202Exostoses anetodermia brachydactyly type EORPHA17497590080
HP:0000982HP:0000982Palmoplantar keratoderma0NIPAL4 CL E G H34893879394ORPHA116128018609383
HP:0000982HP:0000982Palmoplantar keratoderma0NIPAL4 CL E G H348938612281Autosomal recessive congenital ichthyosis 6612281C2677065OMIM116128018609383
HP:0000982HP:0000982Palmoplantar keratoderma0NLRP1 CL E G H22861615225Palmoplantar carcinoma, multiple self-healing615225C3808876OMIM149514374606636
HP:0000982HP:0000982Palmoplantar keratoderma0PEPD CL E G H5184742Aortic dissection lentiginosisORPHA13628840613230
HP:0000982HP:0000982Palmoplantar keratoderma0PIK3CA CL E G H5290201ORPHA19758975171834
HP:0000982HP:0000982Palmoplantar keratoderma0PKP1 CL E G H5317158668ORPHA12389023601975
HP:0000982HP:0000982Palmoplantar keratoderma0PNPLA1 CL E G H28584879394ORPHA114821246612121
HP:0000982HP:0000982Palmoplantar keratoderma0PNPLA1 CL E G H285848615024Autosomal recessive congenital ichthyosis 10615024C3554355OMIM114821246612121
HP:0000982HP:0000982Palmoplantar keratoderma0POMP CL E G H51371281201ORPHA19520330613386
HP:0000982HP:0000982Palmoplantar keratoderma0PTEN CL E G H5728201ORPHA127509588601728
HP:0000982HP:0000982Palmoplantar keratoderma0RECQL4 CL E G H9401221016ORPHA136669949603780
HP:0000982HP:0000982Palmoplantar keratoderma0RHBDF2 CL E G H796512198ORPHA117620788614404
HP:0000982HP:0000982Palmoplantar keratoderma0RSPO1 CL E G H28465485112ORPHA13821679609595
HP:0000982HP:0000982Palmoplantar keratoderma0RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM13821679609595
HP:0000982HP:0000982Palmoplantar keratoderma0SDHB CL E G H6390201ORPHA1109910681185470
HP:0000982HP:0000982Palmoplantar keratoderma0SDHC CL E G H6391201ORPHA170210682602413
HP:0000982HP:0000982Palmoplantar keratoderma0SDHD CL E G H6392201ORPHA160710683602690
HP:0000982HP:0000982Palmoplantar keratoderma0SEC23B CL E G H10483201ORPHA125910702610512
HP:0000982HP:0000982Palmoplantar keratoderma0SERPINB7 CL E G H8710140966ORPHA112313902603357
HP:0000982HP:0000982Palmoplantar keratoderma0SMARCAD1 CL E G H56916384ORPHA15818398612761
HP:0000982HP:0000982Palmoplantar keratoderma0SNAP29 CL E G H9342609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528C1836033OMIM159911133604202
HP:0000982HP:0000982Palmoplantar keratoderma0TAT CL E G H689828378ORPHA130411573613018
HP:0000982HP:0000982Palmoplantar keratoderma0TGM1 CL E G H705179394ORPHA162011777190195
HP:0000982HP:0000982Palmoplantar keratoderma0TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA15711917191191
HP:0000982HP:0000982Palmoplantar keratoderma0TP63 CL E G H86261071ORPHA150815979603273
HP:0000982HP:0000982Palmoplantar keratoderma0TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM150815979603273
HP:0000982HP:0000982Palmoplantar keratoderma0TRAPPC11 CL E G H60684869ORPHA177425751614138
HP:0000982HP:0000982Palmoplantar keratoderma0TRPV3 CL E G H162514659AmyoplasiaORPHA134218084607066
HP:0000982HP:0000982Palmoplantar keratoderma0TRPV3 CL E G H162514614594Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques614594C2609071OMIM134218084607066
HP:0000982HP:0000982Palmoplantar keratoderma0TRPV3 CL E G H162514616400Palmoplantar keratoderma, nonepidermolytic, focal 2616400C4225339OMIM134218084607066
HP:0000982HP:0000982Palmoplantar keratoderma0WNT10A CL E G H8032650944ORPHA135913829606268
HP:0000982HP:0000982Palmoplantar keratoderma0WNT10A CL E G H80326224750Schopf-Schulz-Passarge syndrome224750C1857069OMIM135913829606268
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000982HP:0000982Palmoplantar keratoderma0ABCC9 CL E G H10060154Sandhaus Ben-Ami syndromeORPHA0126660601439
HP:0000982HP:0000982Palmoplantar keratoderma0ACTC1 CL E G H70154Sandhaus Ben-Ami syndromeORPHA0607143102540
HP:0000982HP:0000982Palmoplantar keratoderma0ACTN2 CL E G H88154Sandhaus Ben-Ami syndromeORPHA01157164102573
HP:0000982HP:0000982Palmoplantar keratoderma0ALOXE3 CL E G H59344606545Autosomal recessive congenital ichthyosis 3606545C1847849OMIM021813743607206
HP:0000982HP:0000982Palmoplantar keratoderma0ANKRD1 CL E G H27063154Sandhaus Ben-Ami syndromeORPHA038915819609599
HP:0000982HP:0000982Palmoplantar keratoderma0BAG3 CL E G H9531154Sandhaus Ben-Ami syndromeORPHA0856939603883
HP:0000982HP:0000982Palmoplantar keratoderma0COL17A1 CL E G H130879402ORPHA04192194113811
HP:0000982HP:0000982Palmoplantar keratoderma0CRYAB CL E G H1410154Sandhaus Ben-Ami syndromeORPHA02302389123590
HP:0000982HP:0000982Palmoplantar keratoderma0CSRP3 CL E G H8048154Sandhaus Ben-Ami syndromeORPHA03642472600824
HP:0000982HP:0000982Palmoplantar keratoderma0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0104426169613129
HP:0000982HP:0000982Palmoplantar keratoderma0CYP4F22 CL E G H126410604777Autosomal recessive congenital ichthyosis 5604777C1858142OMIM019926820611495
HP:0000982HP:0000982Palmoplantar keratoderma0DES CL E G H1674154Sandhaus Ben-Ami syndromeORPHA08182770125660
HP:0000982HP:0000982Palmoplantar keratoderma0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA04772890300126
HP:0000982HP:0000982Palmoplantar keratoderma0DMD CL E G H1756154Sandhaus Ben-Ami syndromeORPHA073702928300377
HP:0000982HP:0000982Palmoplantar keratoderma0DOLK CL E G H22845154Sandhaus Ben-Ami syndromeORPHA042423406610746
HP:0000982HP:0000982Palmoplantar keratoderma0DSG2 CL E G H1829154Sandhaus Ben-Ami syndromeORPHA013793049125671
HP:0000982HP:0000982Palmoplantar keratoderma0FHL2 CL E G H2274154Sandhaus Ben-Ami syndromeORPHA01693703602633
HP:0000982HP:0000982Palmoplantar keratoderma0FKTN CL E G H2218154Sandhaus Ben-Ami syndromeORPHA07833622607440
HP:0000982HP:0000982Palmoplantar keratoderma0GATAD1 CL E G H57798154Sandhaus Ben-Ami syndromeORPHA049829941614518
HP:0000982HP:0000982Palmoplantar keratoderma0GJA1 CL E G H26972710Hm syndromeORPHA02214274121014
HP:0000982HP:0000982Palmoplantar keratoderma0HPGD CL E G H32482796Familial hypocalciuric hypercalcemiaC1809471ORPHA01965154601688
HP:0000982HP:0000982Palmoplantar keratoderma0ITGB4 CL E G H369179402ORPHA04396158147557
HP:0000982HP:0000982Palmoplantar keratoderma0KRT1 CL E G H3848312ORPHA01556412139350
HP:0000982HP:0000982Palmoplantar keratoderma0KRT10 CL E G H3858312ORPHA01276413148080
HP:0000982HP:0000982Palmoplantar keratoderma0KRT14 CL E G H386179400ORPHA01676416148066
HP:0000982HP:0000982Palmoplantar keratoderma0KRT5 CL E G H385279400ORPHA02586442148040
HP:0000982HP:0000982Palmoplantar keratoderma0LAMA3 CL E G H390979402ORPHA010196483600805
HP:0000982HP:0000982Palmoplantar keratoderma0LAMA4 CL E G H3910154Sandhaus Ben-Ami syndromeORPHA013546484600133
HP:0000982HP:0000982Palmoplantar keratoderma0LAMB3 CL E G H391479402ORPHA08196490150310
HP:0000982HP:0000982Palmoplantar keratoderma0LAMC2 CL E G H391879402ORPHA07236493150292
HP:0000982HP:0000982Palmoplantar keratoderma0LDB3 CL E G H11155154Sandhaus Ben-Ami syndromeORPHA0106015710605906
HP:0000982HP:0000982Palmoplantar keratoderma0LEMD3 CL E G H235921306Choreoacanthocytosis amyotrophicORPHA029928887607844
HP:0000982HP:0000982Palmoplantar keratoderma0MCOLN1 CL E G H57192578Akesson syndromeORPHA053813356605248
HP:0000982HP:0000982Palmoplantar keratoderma0MYBPC3 CL E G H4607154Sandhaus Ben-Ami syndromeORPHA029817551600958
HP:0000982HP:0000982Palmoplantar keratoderma0MYH6 CL E G H4624154Sandhaus Ben-Ami syndromeORPHA017767576160710
HP:0000982HP:0000982Palmoplantar keratoderma0MYH7 CL E G H4625154Sandhaus Ben-Ami syndromeORPHA036127577160760
HP:0000982HP:0000982Palmoplantar keratoderma0MYPN CL E G H84665154Sandhaus Ben-Ami syndromeORPHA0126323246608517
HP:0000982HP:0000982Palmoplantar keratoderma0NEBL CL E G H10529154Sandhaus Ben-Ami syndromeORPHA082116932605491
HP:0000982HP:0000982Palmoplantar keratoderma0NEXN CL E G H91624154Sandhaus Ben-Ami syndromeORPHA056429557613121
HP:0000982HP:0000982Palmoplantar keratoderma0NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA015314377606470
HP:0000982HP:0000982Palmoplantar keratoderma0NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA08914378606471
HP:0000982HP:0000982Palmoplantar keratoderma0PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA04438609604212
HP:0000982HP:0000982Palmoplantar keratoderma0PLN CL E G H5350154Sandhaus Ben-Ami syndromeORPHA01629080172405
HP:0000982HP:0000982Palmoplantar keratoderma0PPCS CL E G H79717154Sandhaus Ben-Ami syndromeORPHA012525686609853
HP:0000982HP:0000982Palmoplantar keratoderma0PRDM16 CL E G H63976154Sandhaus Ben-Ami syndromeORPHA0108114000605557
HP:0000982HP:0000982Palmoplantar keratoderma0PSEN1 CL E G H5663154Sandhaus Ben-Ami syndromeORPHA04529508104311
HP:0000982HP:0000982Palmoplantar keratoderma0PSEN2 CL E G H5664154Sandhaus Ben-Ami syndromeORPHA02379509600759
HP:0000982HP:0000982Palmoplantar keratoderma0RAF1 CL E G H5894154Sandhaus Ben-Ami syndromeORPHA08279829164760
HP:0000982HP:0000982Palmoplantar keratoderma0RBM20 CL E G H282996154Sandhaus Ben-Ami syndromeORPHA0135427424613171
HP:0000982HP:0000982Palmoplantar keratoderma0RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0200515888608833
HP:0000982HP:0000982Palmoplantar keratoderma0SCN5A CL E G H6331154Sandhaus Ben-Ami syndromeORPHA0317110593600163
HP:0000982HP:0000982Palmoplantar keratoderma0SDHA CL E G H6389154Sandhaus Ben-Ami syndromeORPHA0218610680600857
HP:0000982HP:0000982Palmoplantar keratoderma0SGCD CL E G H6444154Sandhaus Ben-Ami syndromeORPHA058710807601411
HP:0000982HP:0000982Palmoplantar keratoderma0SLCO2A1 CL E G H65782796Familial hypocalciuric hypercalcemiaC1809471ORPHA017810955601460
HP:0000982HP:0000982Palmoplantar keratoderma0TAF1A CL E G H9015154Sandhaus Ben-Ami syndromeORPHA03511532604903
HP:0000982HP:0000982Palmoplantar keratoderma0TAZ CL E G H6901154Sandhaus Ben-Ami syndromeORPHA011577300394
HP:0000982HP:0000982Palmoplantar keratoderma0TCAP CL E G H8557154Sandhaus Ben-Ami syndromeORPHA025411610604488
HP:0000982HP:0000982Palmoplantar keratoderma0TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA029311727602322
HP:0000982HP:0000982Palmoplantar keratoderma0TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0244911730187270
HP:0000982HP:0000982Palmoplantar keratoderma0TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA033011824604319
HP:0000982HP:0000982Palmoplantar keratoderma0TMPO CL E G H7112154Sandhaus Ben-Ami syndromeORPHA049311875188380
HP:0000982HP:0000982Palmoplantar keratoderma0TNNC1 CL E G H7134154Sandhaus Ben-Ami syndromeORPHA025111943191040
HP:0000982HP:0000982Palmoplantar keratoderma0TNNI3 CL E G H7137154Sandhaus Ben-Ami syndromeORPHA059411947191044
HP:0000982HP:0000982Palmoplantar keratoderma0TNNT2 CL E G H7139154Sandhaus Ben-Ami syndromeORPHA073411949191045
HP:0000982HP:0000982Palmoplantar keratoderma0TPM1 CL E G H7168154Sandhaus Ben-Ami syndromeORPHA069412010191010
HP:0000982HP:0000982Palmoplantar keratoderma0TTN CL E G H7273154Sandhaus Ben-Ami syndromeORPHA02285912403188840
HP:0000982HP:0000982Palmoplantar keratoderma0TXNRD2 CL E G H10587154Sandhaus Ben-Ami syndromeORPHA095818155606448
HP:0000982HP:0000982Palmoplantar keratoderma0USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA021525792613276
HP:0000982HP:0000982Palmoplantar keratoderma0VCL CL E G H7414154Sandhaus Ben-Ami syndromeORPHA097812665193065
HP:0000982HP:0000982Palmoplantar keratoderma0WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA037225522612661


Genes (139) :AAAS AAGAB ABCA12 ABCC9 ACTC1 ACTN2 AKT1 ALOX12B ALOXE3 ANKRD1 ATP2A2 BAG3 BRAF CARD14 CAST CD28 CERS3 COL14A1 COL17A1 CRYAB CSRP3 CSTA CTC1 CTLA4 CTSC CYP4F22 DES DKC1 DMD DOLK DSC2 DSG1 DSG2 DSP ENPP1 FERMT1 FGFR2 FHL2 FKTN GATAD1 GJA1 GJB2 GJB4 GJB6 GMPPA HPGD ITGB4 JUP KANK2 KDSR KLLN KRAS KRT1 KRT10 KRT14 KRT16 KRT17 KRT2 KRT5 KRT6A KRT6B KRT6C KRT83 KRT9 LAMA3 LAMA4 LAMB3 LAMC2 LDB3 LEMD3 LOR MAP2K1 MAP2K2 MBTPS2 MCOLN1 MT-TS1 MYBPC3 MYH6 MYH7 MYPN NEBL NEXN NHP2 NIPAL4 NLRP1 NOP10 PARN PEPD PIK3CA PKP1 PLN PNPLA1 POMP PPCS PRDM16 PSEN1 PSEN2 PTEN RAF1 RBM20 RECQL4 RHBDF2 RSPO1 RTEL1 SCN5A SDHA SDHB SDHC SDHD SEC23B SERPINB7 SGCD SLCO2A1 SMARCAD1 SNAP29 TAF1A TAT TAZ TCAP TERC TERT TGM1 TINF2 TMPO TNFRSF1B TNNC1 TNNI3 TNNT2 TP63 TPM1 TRAPPC11 TRNS1 TRPV3 TTN TXNRD2 USB1 VCL WNT10A WRAP53

Diseases (84) :869 79501 79394 601277 154 201 242100 606545 218 1340 2897 173200 616295 3162 79402 607936 1775 678 604777 610476 50942 615508 148700 615821 605676 612908 615522 2908 1555 1010 104100 617525 2710 477 2698 2202 602540 617524 189 2796 34217 601214 616099 316 312 2199 607654 79400 79399 79397 79396 89838 161000 2309 613000 455 615726 615728 615735 1306 659 308800 300918 578 612281 615225 742 158668 615024 281201 221016 2198 85112 610644 140966 384 609528 28378 1071 106260 614594 616400 50944 224750
 

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