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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Dry skin (HP:0000958)help
Term ID: 958
Name: Dry skin
Synonym: Dry skin; Xerosis
Definition: Skin characterized by the lack of natural or normal moisture.
Comments:
Reference: HP:0000958
Genes and Diseases:
 
       Child Nodes:

 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
..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
..expandThickened skin (HP:0001072) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000958HP:0000958Dry skin0ABCA1 CL E G H1931150ORPHA166429600046
HP:0000958HP:0000958Dry skin0ABCA1 CL E G H1931150ORPHA157629600046
HP:0000958HP:0000958Dry skin0ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM157629600046
HP:0000958HP:0000958Dry skin0ABCA1 CL E G H19205400Tangier disease205400C0039292OMIM166429600046
HP:0000958HP:0000958Dry skin0ABCA12 CL E G H26154313ORPHA133614637607800
HP:0000958HP:0000958Dry skin0ABCA12 CL E G H26154313ORPHA136114637607800
HP:0000958HP:0000958Dry skin0ACD CL E G H65057618ORPHA122925070609377
HP:0000958HP:0000958Dry skin0ACD CL E G H65057618ORPHA132125070609377
HP:0000958HP:0000958Dry skin0ADA CL E G H10039041ORPHA1387186608958
HP:0000958HP:0000958Dry skin0ADA CL E G H10039041ORPHA1341186608958
HP:0000958HP:0000958Dry skin0ADAR CL E G H10351ORPHA1471225146920
HP:0000958HP:0000958Dry skin0ADAR CL E G H10351ORPHA1654225146920
HP:0000958HP:0000958Dry skin0ALDH3A2 CL E G H224816ORPHA1475403609523
HP:0000958HP:0000958Dry skin0ALDH3A2 CL E G H224816ORPHA1437403609523
HP:0000958HP:0000958Dry skin0ALOX12B CL E G H242313ORPHA1291430603741
HP:0000958HP:0000958Dry skin0ALOX12B CL E G H242313ORPHA1285430603741
HP:0000958HP:0000958Dry skin0ALOXE3 CL E G H59344313ORPHA120213743607206
HP:0000958HP:0000958Dry skin0ALOXE3 CL E G H59344313ORPHA120913743607206
HP:0000958HP:0000958Dry skin0ATP7A CL E G H538565ORPHA11003869300011
HP:0000958HP:0000958Dry skin0ATP7A CL E G H538565ORPHA1897869300011
HP:0000958HP:0000958Dry skin0BAP1 CL E G H8314618ORPHA11683950603089
HP:0000958HP:0000958Dry skin0BAP1 CL E G H8314618ORPHA11514950603089
HP:0000958HP:0000958Dry skin0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000958HP:0000958Dry skin0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000958HP:0000958Dry skin0CASR CL E G H846428Autosomal dominant hypocalcemiaCN228164ORPHA113181514601199
HP:0000958HP:0000958Dry skin0CASR CL E G H846428Autosomal dominant hypocalcemiaCN228164ORPHA115691514601199
HP:0000958HP:0000958Dry skin0CD28 CL E G H9402584ORPHA1301653186760
HP:0000958HP:0000958Dry skin0CD28 CL E G H9402584ORPHA1281653186760
HP:0000958HP:0000958Dry skin0CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA1301653186760
HP:0000958HP:0000958Dry skin0CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA1281653186760
HP:0000958HP:0000958Dry skin0CDK4 CL E G H1019618ORPHA15691773123829
HP:0000958HP:0000958Dry skin0CDK4 CL E G H1019618ORPHA16401773123829
HP:0000958HP:0000958Dry skin0CDKN2A CL E G H1029618ORPHA110621787600160
HP:0000958HP:0000958Dry skin0CDKN2A CL E G H1029618ORPHA19711787600160
HP:0000958HP:0000958Dry skin0CDKN2B CL E G H1030618ORPHA1991788600431
HP:0000958HP:0000958Dry skin0CDKN2B CL E G H1030618ORPHA11011788600431
HP:0000958HP:0000958Dry skin0CDKN2D CL E G H1032618ORPHA1181790600927
HP:0000958HP:0000958Dry skin0CDKN2D CL E G H1032618ORPHA1171790600927
HP:0000958HP:0000958Dry skin0CHD7 CL E G H5563639041ORPHA1198020626608892
HP:0000958HP:0000958Dry skin0CHD7 CL E G H5563639041ORPHA1175220626608892
HP:0000958HP:0000958Dry skin0CLDN1 CL E G H9076607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis607626C1843355OMIM1902032603718
HP:0000958HP:0000958Dry skin0CLDN1 CL E G H9076607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis607626C1843355OMIM1932032603718
HP:0000958HP:0000958Dry skin0CLDN10 CL E G H9071617671HELIX SYNDROME617671C4522164OMIM1892033617579
HP:0000958HP:0000958Dry skin0CLDN10 CL E G H9071617671HELIX SYNDROME617671C4522164OMIM1862033617579
HP:0000958HP:0000958Dry skin0CTLA4 CL E G H14932584ORPHA11722505123890
HP:0000958HP:0000958Dry skin0CTLA4 CL E G H14932584ORPHA11462505123890
HP:0000958HP:0000958Dry skin0CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA11722505123890
HP:0000958HP:0000958Dry skin0CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA11462505123890
HP:0000958HP:0000958Dry skin0CYP4F22 CL E G H126410313ORPHA119126820611495
HP:0000958HP:0000958Dry skin0CYP4F22 CL E G H126410313ORPHA118626820611495
HP:0000958HP:0000958Dry skin0DCLRE1C CL E G H6442139041ORPHA159417642605988
HP:0000958HP:0000958Dry skin0DCLRE1C CL E G H6442139041ORPHA150917642605988
HP:0000958HP:0000958Dry skin0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11062718600811
HP:0000958HP:0000958Dry skin0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11002718600811
HP:0000958HP:0000958Dry skin0DOLK CL E G H2284591131ORPHA135423406610746
HP:0000958HP:0000958Dry skin0DOLK CL E G H2284591131ORPHA128623406610746
HP:0000958HP:0000958Dry skin0EDA CL E G H1896305100Hypohidrotic X-linked ectodermal dysplasia305100C0162359OMIM14953157300451
HP:0000958HP:0000958Dry skin0EDA CL E G H1896305100Hypohidrotic X-linked ectodermal dysplasia305100C0162359OMIM14603157300451
HP:0000958HP:0000958Dry skin0EDAR CL E G H10913129490Autosomal dominant hypohidrotic ectodermal dysplasia129490C1720965OMIM12912895604095
HP:0000958HP:0000958Dry skin0EDAR CL E G H10913129490Autosomal dominant hypohidrotic ectodermal dysplasia129490C1720965OMIM12782895604095
HP:0000958HP:0000958Dry skin0EDAR CL E G H10913248Schaap Taylor Baraitser syndromeORPHA12912895604095
HP:0000958HP:0000958Dry skin0EDAR CL E G H10913248Schaap Taylor Baraitser syndromeORPHA12782895604095
HP:0000958HP:0000958Dry skin0EDARADD CL E G H128178129490Autosomal dominant hypohidrotic ectodermal dysplasia129490C1720965OMIM118814341606603
HP:0000958HP:0000958Dry skin0EDARADD CL E G H128178129490Autosomal dominant hypohidrotic ectodermal dysplasia129490C1720965OMIM119414341606603
HP:0000958HP:0000958Dry skin0EDARADD CL E G H128178614940Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant614940C3541517OMIM119414341606603
HP:0000958HP:0000958Dry skin0EDARADD CL E G H128178614940Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant614940C3541517OMIM118814341606603
HP:0000958HP:0000958Dry skin0EDARADD CL E G H128178614941Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive614941C3539920OMIM119414341606603
HP:0000958HP:0000958Dry skin0EDARADD CL E G H128178614941Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive614941C3539920OMIM118814341606603
HP:0000958HP:0000958Dry skin0EDARADD CL E G H128178248Schaap Taylor Baraitser syndromeORPHA118814341606603
HP:0000958HP:0000958Dry skin0EDARADD CL E G H128178248Schaap Taylor Baraitser syndromeORPHA119414341606603
HP:0000958HP:0000958Dry skin0ELOVL4 CL E G H67851955ORPHA121314415605512
HP:0000958HP:0000958Dry skin0ELOVL4 CL E G H67851955ORPHA117814415605512
HP:0000958HP:0000958Dry skin0ELOVL4 CL E G H6785614457Ichthyosis, spastic quadriplegia, and mental retardation614457C3280856OMIM121314415605512
HP:0000958HP:0000958Dry skin0ELOVL4 CL E G H6785614457Ichthyosis, spastic quadriplegia, and mental retardation614457C3280856OMIM117814415605512
HP:0000958HP:0000958Dry skin0ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0000958HP:0000958Dry skin0ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0000958HP:0000958Dry skin0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA14793434126340
HP:0000958HP:0000958Dry skin0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA13603434126340
HP:0000958HP:0000958Dry skin0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0000958HP:0000958Dry skin0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0000958HP:0000958Dry skin0ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0000958HP:0000958Dry skin0ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0000958HP:0000958Dry skin0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA12833435133510
HP:0000958HP:0000958Dry skin0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA11863435133510
HP:0000958HP:0000958Dry skin0ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0000958HP:0000958Dry skin0ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0000958HP:0000958Dry skin0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA15383436133520
HP:0000958HP:0000958Dry skin0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA14693436133520
HP:0000958HP:0000958Dry skin0ERCC4 CL E G H2072610965XFE progeroid syndrome610965C1970416OMIM14693436133520
HP:0000958HP:0000958Dry skin0ERCC4 CL E G H2072610965XFE progeroid syndrome610965C1970416OMIM15383436133520
HP:0000958HP:0000958Dry skin0ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0000958HP:0000958Dry skin0ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0000958HP:0000958Dry skin0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13743437133530
HP:0000958HP:0000958Dry skin0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA13613437133530
HP:0000958HP:0000958Dry skin0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM19463438609413
HP:0000958HP:0000958Dry skin0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM18253438609413
HP:0000958HP:0000958Dry skin0ERCC6 CL E G H2074600630UV-sensitive syndrome600630C1833561OMIM18253438609413
HP:0000958HP:0000958Dry skin0ERCC6 CL E G H2074600630UV-sensitive syndrome600630C1833561OMIM19463438609413
HP:0000958HP:0000958Dry skin0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13433439609412
HP:0000958HP:0000958Dry skin0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13103439609412
HP:0000958HP:0000958Dry skin0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM11884006612280
HP:0000958HP:0000958Dry skin0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM11374006612280
HP:0000958HP:0000958Dry skin0GINS1 CL E G H9837617827IMMUNODEFICIENCY 55617827CN737162OMIM17228980610608
HP:0000958HP:0000958Dry skin0GINS1 CL E G H9837617827IMMUNODEFICIENCY 55617827CN737162OMIM14728980610608
HP:0000958HP:0000958Dry skin0GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA11914274121014
HP:0000958HP:0000958Dry skin0GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA11694274121014
HP:0000958HP:0000958Dry skin0GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA11454285603324
HP:0000958HP:0000958Dry skin0GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA11564285603324
HP:0000958HP:0000958Dry skin0GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1544286605425
HP:0000958HP:0000958Dry skin0GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1534286605425
HP:0000958HP:0000958Dry skin0GNA11 CL E G H2767428Autosomal dominant hypocalcemiaCN228164ORPHA11504379139313
HP:0000958HP:0000958Dry skin0GNA11 CL E G H2767428Autosomal dominant hypocalcemiaCN228164ORPHA11294379139313
HP:0000958HP:0000958Dry skin0GPNMB CL E G H10457617920AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3617920CN895592OMIM1564462604368
HP:0000958HP:0000958Dry skin0GTF2E2 CL E G H2961616943Trichothiodystrophy 6, nonphotosensitive616943C4310785OMIM11164651189964
HP:0000958HP:0000958Dry skin0GTF2E2 CL E G H2961616943Trichothiodystrophy 6, nonphotosensitive616943C4310785OMIM1904651189964
HP:0000958HP:0000958Dry skin0IFIH1 CL E G H6413551ORPHA171818873606951
HP:0000958HP:0000958Dry skin0IFIH1 CL E G H6413551ORPHA147618873606951
HP:0000958HP:0000958Dry skin0IFT43 CL E G H112752614099Cranioectodermal dysplasia 3614099C3279807OMIM112929669614068
HP:0000958HP:0000958Dry skin0IFT43 CL E G H112752614099Cranioectodermal dysplasia 3614099C3279807OMIM116229669614068
HP:0000958HP:0000958Dry skin0IKBKG CL E G H8517300640Invasive pneumococcal disease, recurrent isolated, 2300640C1845073OMIM13375961300248
HP:0000958HP:0000958Dry skin0IKBKG CL E G H8517300640Invasive pneumococcal disease, recurrent isolated, 2300640C1845073OMIM13265961300248
HP:0000958HP:0000958Dry skin0IL2RG CL E G H356139041ORPHA14036010308380
HP:0000958HP:0000958Dry skin0IL2RG CL E G H356139041ORPHA13706010308380
HP:0000958HP:0000958Dry skin0IL7R CL E G H357539041ORPHA13436024146661
HP:0000958HP:0000958Dry skin0IL7R CL E G H357539041ORPHA13026024146661
HP:0000958HP:0000958Dry skin0INSR CL E G H3643769ORPHA15416091147670
HP:0000958HP:0000958Dry skin0INSR CL E G H3643769ORPHA15086091147670
HP:0000958HP:0000958Dry skin0INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM15086091147670
HP:0000958HP:0000958Dry skin0INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM15416091147670
HP:0000958HP:0000958Dry skin0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1114324565612452
HP:0000958HP:0000958Dry skin0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM1104724565612452
HP:0000958HP:0000958Dry skin0KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA1934021136440
HP:0000958HP:0000958Dry skin0KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA1964021136440
HP:0000958HP:0000958Dry skin0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA13416407190070
HP:0000958HP:0000958Dry skin0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA13316407190070
HP:0000958HP:0000958Dry skin0KYNU CL E G H894279155ORPHA1546469605197
HP:0000958HP:0000958Dry skin0KYNU CL E G H894279155ORPHA1496469605197
HP:0000958HP:0000958Dry skin0LIG4 CL E G H398139041ORPHA14676601601837
HP:0000958HP:0000958Dry skin0LIG4 CL E G H398139041ORPHA13886601601837
HP:0000958HP:0000958Dry skin0LIPN CL E G H643418313ORPHA16323452613924
HP:0000958HP:0000958Dry skin0LIPN CL E G H643418313ORPHA16523452613924
HP:0000958HP:0000958Dry skin0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13366840176872
HP:0000958HP:0000958Dry skin0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13066840176872
HP:0000958HP:0000958Dry skin0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15156842601263
HP:0000958HP:0000958Dry skin0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA14526842601263
HP:0000958HP:0000958Dry skin0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM123115455300294
HP:0000958HP:0000958Dry skin0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM124215455300294
HP:0000958HP:0000958Dry skin0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM124215455300294
HP:0000958HP:0000958Dry skin0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM123115455300294
HP:0000958HP:0000958Dry skin0MC1R CL E G H4157618ORPHA13766929155555
HP:0000958HP:0000958Dry skin0MC1R CL E G H4157618ORPHA14286929155555
HP:0000958HP:0000958Dry skin0MGMT CL E G H4255618ORPHA1947059156569
HP:0000958HP:0000958Dry skin0MITF CL E G H4286618ORPHA13497105156845
HP:0000958HP:0000958Dry skin0MITF CL E G H4286618ORPHA13417105156845
HP:0000958HP:0000958Dry skin0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM11007207604041
HP:0000958HP:0000958Dry skin0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM1957207604041
HP:0000958HP:0000958Dry skin0MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM15529401612176
HP:0000958HP:0000958Dry skin0MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM113529401612176
HP:0000958HP:0000958Dry skin0NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM11577631104170
HP:0000958HP:0000958Dry skin0NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM11697631104170
HP:0000958HP:0000958Dry skin0NIPAL4 CL E G H348938313ORPHA115128018609383
HP:0000958HP:0000958Dry skin0NIPAL4 CL E G H348938313ORPHA114728018609383
HP:0000958HP:0000958Dry skin0NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM138714374606636
HP:0000958HP:0000958Dry skin0NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM120214374606636
HP:0000958HP:0000958Dry skin0NOD2 CL E G H6412790340ORPHA16535331605956
HP:0000958HP:0000958Dry skin0NOD2 CL E G H6412790340ORPHA15615331605956
HP:0000958HP:0000958Dry skin0OSMR CL E G H9180105250Primary localized cutaneous amyloidosis 1105250C0268398OMIM1538507601743
HP:0000958HP:0000958Dry skin0PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM112158582612349
HP:0000958HP:0000958Dry skin0PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM111648582612349
HP:0000958HP:0000958Dry skin0PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM11878622167415
HP:0000958HP:0000958Dry skin0PAX8 CL E G H7849218700Thyroid dysgenesis218700C1563716OMIM11918622167415
HP:0000958HP:0000958Dry skin0PCNT CL E G H51162637HemimegalencephalyORPHA1136116068605925
HP:0000958HP:0000958Dry skin0PCNT CL E G H51162637HemimegalencephalyORPHA1112616068605925
HP:0000958HP:0000958Dry skin0PEPD CL E G H5184742Aortic dissection lentiginosisORPHA12918840613230
HP:0000958HP:0000958Dry skin0PEPD CL E G H5184742Aortic dissection lentiginosisORPHA11888840613230
HP:0000958HP:0000958Dry skin0PEX11B CL E G H8799614920Peroxisome biogenesis disorder 14B614920C3554055OMIM13328853603867
HP:0000958HP:0000958Dry skin0PEX11B CL E G H8799614920Peroxisome biogenesis disorder 14B614920C3554055OMIM12848853603867
HP:0000958HP:0000958Dry skin0PEX7 CL E G H5191773ORPHA13638860601757
HP:0000958HP:0000958Dry skin0PEX7 CL E G H5191773ORPHA13108860601757
HP:0000958HP:0000958Dry skin0PHYH CL E G H5264773ORPHA12608940602026
HP:0000958HP:0000958Dry skin0PHYH CL E G H5264773ORPHA12018940602026
HP:0000958HP:0000958Dry skin0PKP1 CL E G H5317158668ORPHA12329023601975
HP:0000958HP:0000958Dry skin0PKP1 CL E G H5317158668ORPHA12299023601975
HP:0000958HP:0000958Dry skin0POLH CL E G H542990342ORPHA13079181603968
HP:0000958HP:0000958Dry skin0POLH CL E G H542990342ORPHA13039181603968
HP:0000958HP:0000958Dry skin0POT1 CL E G H25913618ORPHA1108217284606478
HP:0000958HP:0000958Dry skin0POT1 CL E G H25913618ORPHA191117284606478
HP:0000958HP:0000958Dry skin0PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM1839407605435
HP:0000958HP:0000958Dry skin0PRKD1 CL E G H5587617364Congenital heart defects and ectodermal dysplasia617364C4479250OMIM1829407605435
HP:0000958HP:0000958Dry skin0RAF1 CL E G H5894611554LEOPARD syndrome 2611554C1969056OMIM16909829164760
HP:0000958HP:0000958Dry skin0RAF1 CL E G H5894611554LEOPARD syndrome 2611554C1969056OMIM16259829164760
HP:0000958HP:0000958Dry skin0RAG1 CL E G H589639041ORPHA14919831179615
HP:0000958HP:0000958Dry skin0RAG1 CL E G H589639041ORPHA14269831179615
HP:0000958HP:0000958Dry skin0RAG2 CL E G H589739041ORPHA13259832179616
HP:0000958HP:0000958Dry skin0RAG2 CL E G H589739041ORPHA12789832179616
HP:0000958HP:0000958Dry skin0RIPK4 CL E G H541011401ORPHA1272496605706
HP:0000958HP:0000958Dry skin0RIPK4 CL E G H541011401ORPHA1268496605706
HP:0000958HP:0000958Dry skin0RMRP CL E G H602339041ORPHA160910031157660
HP:0000958HP:0000958Dry skin0RMRP CL E G H602339041ORPHA149810031157660
HP:0000958HP:0000958Dry skin0RNASEH2A CL E G H1053551ORPHA118618518606034
HP:0000958HP:0000958Dry skin0RNASEH2A CL E G H1053551ORPHA125918518606034
HP:0000958HP:0000958Dry skin0RNASEH2B CL E G H7962151ORPHA127225671610326
HP:0000958HP:0000958Dry skin0RNASEH2B CL E G H7962151ORPHA119725671610326
HP:0000958HP:0000958Dry skin0RNASEH2C CL E G H8415351ORPHA114724116610330
HP:0000958HP:0000958Dry skin0RNASEH2C CL E G H8415351ORPHA119124116610330
HP:0000958HP:0000958Dry skin0RNF168 CL E G H165918611943Riddle syndrome611943C2677792OMIM114726661612688
HP:0000958HP:0000958Dry skin0RNF168 CL E G H165918611943Riddle syndrome611943C2677792OMIM123226661612688
HP:0000958HP:0000958Dry skin0RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM17634016601428
HP:0000958HP:0000958Dry skin0RNU4ATAC CL E G H100151683210710Osteodysplastic primordial dwarfism, type 1210710C1859452OMIM120134016601428
HP:0000958HP:0000958Dry skin0SAMHD1 CL E G H2593951ORPHA145415925606754
HP:0000958HP:0000958Dry skin0SAMHD1 CL E G H2593951ORPHA132915925606754
HP:0000958HP:0000958Dry skin0SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM145415925606754
HP:0000958HP:0000958Dry skin0SAMHD1 CL E G H25939612952Aicardi Goutieres syndrome 5612952C2749659OMIM132915925606754
HP:0000958HP:0000958Dry skin0SDR9C7 CL E G H121214313ORPHA12429958609769
HP:0000958HP:0000958Dry skin0SDR9C7 CL E G H121214313ORPHA12729958609769
HP:0000958HP:0000958Dry skin0SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA148617129607059
HP:0000958HP:0000958Dry skin0SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA144917129607059
HP:0000958HP:0000958Dry skin0SLC5A5 CL E G H6528274400Thyroid dyshormonogenesis 1274400C1848805OMIM114911040601843
HP:0000958HP:0000958Dry skin0SLC5A5 CL E G H6528274400Thyroid dyshormonogenesis 1274400C1848805OMIM114711040601843
HP:0000958HP:0000958Dry skin0SMARCAD1 CL E G H56916384ORPHA15818398612761
HP:0000958HP:0000958Dry skin0SMARCAD1 CL E G H56916384ORPHA15618398612761
HP:0000958HP:0000958Dry skin0STS CL E G H412461ORPHA144011425300747
HP:0000958HP:0000958Dry skin0STS CL E G H412461ORPHA144711425300747
HP:0000958HP:0000958Dry skin0SULT2B1 CL E G H6820313ORPHA14611459604125
HP:0000958HP:0000958Dry skin0SULT2B1 CL E G H6820313ORPHA14211459604125
HP:0000958HP:0000958Dry skin0TERF2IP CL E G H54386618ORPHA14819246605061
HP:0000958HP:0000958Dry skin0TERF2IP CL E G H54386618ORPHA14719246605061
HP:0000958HP:0000958Dry skin0TERT CL E G H7015618ORPHA1188711730187270
HP:0000958HP:0000958Dry skin0TERT CL E G H7015618ORPHA1160611730187270
HP:0000958HP:0000958Dry skin0TGM1 CL E G H7051313ORPHA147611777190195
HP:0000958HP:0000958Dry skin0TGM1 CL E G H7051313ORPHA151411777190195
HP:0000958HP:0000958Dry skin0THRA CL E G H7067614450Hypothyroidism, congenital, nongoitrous, 6614450C3280817OMIM14411796190120
HP:0000958HP:0000958Dry skin0TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM128811824604319
HP:0000958HP:0000958Dry skin0TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM123011824604319
HP:0000958HP:0000958Dry skin0TNFRSF1B CL E G H71332584ORPHA15611917191191
HP:0000958HP:0000958Dry skin0TNFRSF1B CL E G H71332584ORPHA15211917191191
HP:0000958HP:0000958Dry skin0TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA15611917191191
HP:0000958HP:0000958Dry skin0TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA15211917191191
HP:0000958HP:0000958Dry skin0TP63 CL E G H8626978ORPHA144415979603273
HP:0000958HP:0000958Dry skin0TP63 CL E G H8626978ORPHA137615979603273
HP:0000958HP:0000958Dry skin0TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM144415979603273
HP:0000958HP:0000958Dry skin0TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM137615979603273
HP:0000958HP:0000958Dry skin0TP63 CL E G H86261896Dominant cleft palateORPHA144415979603273
HP:0000958HP:0000958Dry skin0TP63 CL E G H86261896Dominant cleft palateORPHA137615979603273
HP:0000958HP:0000958Dry skin0TREX1 CL E G H1127751ORPHA119812269606609
HP:0000958HP:0000958Dry skin0TREX1 CL E G H1127751ORPHA128912269606609
HP:0000958HP:0000958Dry skin0TRH CL E G H7200275120Hypothalamic hypothyroidism275120C0220998OMIM12612298613879
HP:0000958HP:0000958Dry skin0TRH CL E G H7200275120Hypothalamic hypothyroidism275120C0220998OMIM12712298613879
HP:0000958HP:0000958Dry skin0TRIP4 CL E G H9325486815ORPHA113112310604501
HP:0000958HP:0000958Dry skin0TRIP4 CL E G H9325486815ORPHA112112310604501
HP:0000958HP:0000958Dry skin0TRIP4 CL E G H9325617066Muscular dystrophy, congenital, davignon-chauveau type617066C4310736OMIM113112310604501
HP:0000958HP:0000958Dry skin0TRIP4 CL E G H9325617066Muscular dystrophy, congenital, davignon-chauveau type617066C4310736OMIM112112310604501
HP:0000958HP:0000958Dry skin0TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM18277146603576
HP:0000958HP:0000958Dry skin0TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM110267146603576
HP:0000958HP:0000958Dry skin0TSHR CL E G H725390673ORPHA120412373603372
HP:0000958HP:0000958Dry skin0TSHR CL E G H725390673ORPHA120312373603372
HP:0000958HP:0000958Dry skin0TWIST2 CL E G H117581200110Ablepharon macrostomia syndrome200110C1860224OMIM19920670607556
HP:0000958HP:0000958Dry skin0TWIST2 CL E G H117581200110Ablepharon macrostomia syndrome200110C1860224OMIM19220670607556
HP:0000958HP:0000958Dry skin0TWIST2 CL E G H117581209885Barber-Say syndrome209885C1319466OMIM19920670607556
HP:0000958HP:0000958Dry skin0TWIST2 CL E G H117581209885Barber-Say syndrome209885C1319466OMIM19220670607556
HP:0000958HP:0000958Dry skin0TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA19920670607556
HP:0000958HP:0000958Dry skin0TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA19220670607556
HP:0000958HP:0000958Dry skin0UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120112472312180
HP:0000958HP:0000958Dry skin0UBE2A CL E G H7319300860Syndromic mental retardation, Nascimento type, X-linked300860C3275464OMIM120412472312180
HP:0000958HP:0000958Dry skin0UVSSA CL E G H57654614640UV-sensitive syndrome 3614640C3553328OMIM115629304614632
HP:0000958HP:0000958Dry skin0UVSSA CL E G H57654614640UV-sensitive syndrome 3614640C3553328OMIM115129304614632
HP:0000958HP:0000958Dry skin0WNT10A CL E G H80326248Schaap Taylor Baraitser syndromeORPHA130913829606268
HP:0000958HP:0000958Dry skin0WNT10A CL E G H80326248Schaap Taylor Baraitser syndromeORPHA129113829606268
HP:0000958HP:0000958Dry skin0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA123112814611153
HP:0000958HP:0000958Dry skin0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA122112814611153
HP:0000958HP:0000958Dry skin0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA154512816613208
HP:0000958HP:0000958Dry skin0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA151812816613208
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000958HP:0000958Dry skin0ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA08416876606036
HP:0000958HP:0000958Dry skin0ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA06216876606036
HP:0000958HP:0000958Dry skin0DDOST CL E G H1650300536ORPHA01792728602202
HP:0000958HP:0000958Dry skin0DDOST CL E G H1650300536ORPHA01542728602202
HP:0000958HP:0000958Dry skin0FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA05973688136350
HP:0000958HP:0000958Dry skin0FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA05303688136350
HP:0000958HP:0000958Dry skin0HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA0744877601802
HP:0000958HP:0000958Dry skin0HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA0634877601802
HP:0000958HP:0000958Dry skin0KIF11 CL E G H38322526ORPHA04986388148760
HP:0000958HP:0000958Dry skin0KIF11 CL E G H38322526ORPHA04056388148760
HP:0000958HP:0000958Dry skin0LIG4 CL E G H3981235ORPHA04676601601837
HP:0000958HP:0000958Dry skin0LIG4 CL E G H3981235ORPHA03886601601837
HP:0000958HP:0000958Dry skin0NOTCH2 CL E G H4853955ORPHA06277882600275
HP:0000958HP:0000958Dry skin0NOTCH2 CL E G H4853955ORPHA05267882600275
HP:0000958HP:0000958Dry skin0NSUN2 CL E G H54888235ORPHA038625994610916
HP:0000958HP:0000958Dry skin0NSUN2 CL E G H54888235ORPHA040125994610916
HP:0000958HP:0000958Dry skin0OFD1 CL E G H84812750ORPHA07232567300170
HP:0000958HP:0000958Dry skin0OFD1 CL E G H84812750ORPHA06472567300170
HP:0000958HP:0000958Dry skin0OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA01628522600037
HP:0000958HP:0000958Dry skin0OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA01388522600037
HP:0000958HP:0000958Dry skin0PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA012715836607123
HP:0000958HP:0000958Dry skin0PROKR2 CL E G H1286743157Lachiewicz Sibley syndromeORPHA012015836607123
HP:0000958HP:0000958Dry skin0SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA016011195184429
HP:0000958HP:0000958Dry skin0SOX2 CL E G H66573157Lachiewicz Sibley syndromeORPHA015511195184429
HP:0000958HP:0000958Dry skin0SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA023011199313430
HP:0000958HP:0000958Dry skin0SOX3 CL E G H66583157Lachiewicz Sibley syndromeORPHA022511199313430
HP:0000958HP:0000958Dry skin0SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA072815464605010
HP:0000958HP:0000958Dry skin0SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA063015464605010
HP:0000958HP:0000958Dry skin0TP63 CL E G H862669085ORPHA044415979603273
HP:0000958HP:0000958Dry skin0TP63 CL E G H862669085ORPHA037615979603273
HP:0000958HP:0000958Dry skin0WNT10A CL E G H80326257980Odontoonychodermal dysplasia257980C0796093OMIM029113829606268
HP:0000958HP:0000958Dry skin0WNT10A CL E G H80326257980Odontoonychodermal dysplasia257980C0796093OMIM030913829606268
HP:0000958HP:0000958Dry skin0WNT10A CL E G H80326150400Tooth agenesis, selective, 4150400C1835492OMIM029113829606268
HP:0000958HP:0000958Dry skin0WNT10A CL E G H80326150400Tooth agenesis, selective, 4150400C1835492OMIM030913829606268
HP:0000958HP:0000958Dry skin0WNT10B CL E G H7480617073Tooth agenesis, selective, 8617073C4310730OMIM05012775601906
HP:0000958HP:0000958Dry skin0WNT10B CL E G H7480617073Tooth agenesis, selective, 8617073C4310730OMIM04512775601906


Genes (128) :ABCA1 ABCA12 ACD ADA ADAR ALDH3A2 ALOX12B ALOXE3 ARNT2 ATP7A BAP1 BRAF CASR CD28 CDK4 CDKN2A CDKN2B CDKN2D CHD7 CLDN1 CLDN10 CTLA4 CYP4F22 DCLRE1C DDB2 DDOST DOLK EDA EDAR EDARADD ELOVL4 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 FGFR1 FUCA1 GINS1 GJA1 GJB3 GJB4 GNA11 GPNMB GTF2E2 HESX1 IFIH1 IFT43 IKBKG IL2RG IL7R INSR KANSL1 KDSR KIF11 KRAS KYNU LIG4 LIPN MAP2K1 MAP2K2 MBTPS2 MC1R MGMT MITF MPDU1 MYSM1 NAGA NIPAL4 NLRP1 NOD2 NOTCH2 NSUN2 OFD1 OSMR OTX2 PAH PAX8 PCNT PEPD PEX11B PEX7 PHYH PKP1 POLH POT1 PRKD1 PROKR2 RAF1 RAG1 RAG2 RIPK4 RMRP RNASEH2A RNASEH2B RNASEH2C RNF168 RNU4ATAC SAMHD1 SDR9C7 SLC39A4 SLC5A5 SMARCAD1 SOX2 SOX3 SPINK5 STS SULT2B1 TERF2IP TERT TGM1 THRA TINF2 TNFRSF1B TP63 TREX1 TRH TRIP4 TRPM1 TSHR TWIST2 UBE2A UVSSA WNT10A WNT10B XPA XPC

Diseases (92) :31150 205400 313 618 39041 51 816 3157 565 1340 428 2584 3162 607626 617671 910 300536 91131 305100 129490 248 614940 614941 1955 614457 220295 601675 610965 133540 600630 216400 230000 617827 317 617920 616943 614099 300640 769 262190 610443 2526 79155 235 308205 308800 609180 618116 609242 617388 90340 955 2750 105250 261600 218700 2637 742 614920 773 158668 90342 617364 611554 1401 611943 210710 612952 37 274400 384 634 461 614450 613990 69085 978 103285 1896 275120 486815 617066 613216 90673 200110 209885 920 300860 614640 257980 150400 617073
 

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