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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000958HP:0000958Dry skin0ABCA1 CL E G H1929ORPHA:31150Tangier diseaseHP:0040282 - Frequent191
HP:0000958HP:0000958Dry skin0ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0000958HP:0000958Dry skin0ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent130
HP:0000958HP:0000958Dry skin0ACD CL E G H6505725070ORPHA:618Familial melanomaHP:0040282 - Frequent11
HP:0000958HP:0000958Dry skin0ADA CL E G H100186ORPHA:39041Omenn syndromeHP:0040282 - Frequent75
HP:0000958HP:0000958Dry skin0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0000958HP:0000958Dry skin0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040281 - Very frequent87
HP:0000958HP:0000958Dry skin0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDGHP:0040283 - Occasional41
HP:0000958HP:0000958Dry skin0ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent75
HP:0000958HP:0000958Dry skin0ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent63
HP:0000958HP:0000958Dry skin0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional
HP:0000958HP:0000958Dry skin0ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent1
HP:0000958HP:0000958Dry skin0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040281 - Very frequent192
HP:0000958HP:0000958Dry skin0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome22
HP:0000958HP:0000958Dry skin0BAP1 CL E G H8314950ORPHA:618Familial melanomaHP:0040282 - Frequent184
HP:0000958HP:0000958Dry skin0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent276
HP:0000958HP:0000958Dry skin0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0000958HP:0000958Dry skin0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0000958HP:0000958Dry skin0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0000958HP:0000958Dry skin0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000958HP:0000958Dry skin0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemiaHP:0040282 - Frequent272
HP:0000958HP:0000958Dry skin0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0000958HP:0000958Dry skin0CD28 CL E G H9401653ORPHA:2584Classic mycosis fungoidesHP:0040281 - Very frequent
HP:0000958HP:0000958Dry skin0CD28 CL E G H9401653ORPHA:3162Sézary syndromeHP:0040281 - Very frequent
HP:0000958HP:0000958Dry skin0CDK4 CL E G H10191773ORPHA:618Familial melanomaHP:0040282 - Frequent145
HP:0000958HP:0000958Dry skin0CDKN2A CL E G H10291787ORPHA:618Familial melanomaHP:0040282 - Frequent289
HP:0000958HP:0000958Dry skin0CDKN2B CL E G H10301788ORPHA:618Familial melanomaHP:0040282 - Frequent1
HP:0000958HP:0000958Dry skin0CHD7 CL E G H5563620626ORPHA:39041Omenn syndromeHP:0040282 - Frequent515
HP:0000958HP:0000958Dry skin0CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.11
HP:0000958HP:0000958Dry skin0CLDN10 CL E G H90712033OMIM:617671Helix syndrome.3
HP:0000958HP:0000958Dry skin0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0000958HP:0000958Dry skin0CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type.
HP:0000958HP:0000958Dry skin0CSTB CL E G H14762482ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent51
HP:0000958HP:0000958Dry skin0CTLA4 CL E G H14932505ORPHA:2584Classic mycosis fungoidesHP:0040281 - Very frequent10
HP:0000958HP:0000958Dry skin0CTLA4 CL E G H14932505ORPHA:3162Sézary syndromeHP:0040281 - Very frequent10
HP:0000958HP:0000958Dry skin0CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent54
HP:0000958HP:0000958Dry skin0DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndromeHP:0040282 - Frequent94
HP:0000958HP:0000958Dry skin0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent30
HP:0000958HP:0000958Dry skin0DDOST CL E G H16502728ORPHA:300536DDOST-CDGHP:0040283 - Occasional62
HP:0000958HP:0000958Dry skin0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im55
HP:0000958HP:0000958Dry skin0EDA CL E G H18963157OMIM:305100Ectodermal dysplasia 1, hypohidrotic, X-linked.115
HP:0000958HP:0000958Dry skin0EDAR CL E G H109132895ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent86
HP:0000958HP:0000958Dry skin0EDAR CL E G H109132895OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.86
HP:0000958HP:0000958Dry skin0EDARADD CL E G H12817814341ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent56
HP:0000958HP:0000958Dry skin0EDARADD CL E G H12817814341OMIM:129490Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant.56
HP:0000958HP:0000958Dry skin0EDARADD CL E G H12817814341OMIM:614940Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant.56
HP:0000958HP:0000958Dry skin0EDARADD CL E G H12817814341OMIM:614941Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive.56
HP:0000958HP:0000958Dry skin0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features.
HP:0000958HP:0000958Dry skin0ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardation.62
HP:0000958HP:0000958Dry skin0ELOVL4 CL E G H678514415ORPHA:1955Spinocerebellar ataxia type 34HP:0040281 - Very frequent62
HP:0000958HP:0000958Dry skin0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000958HP:0000958Dry skin0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0000958HP:0000958Dry skin0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent106
HP:0000958HP:0000958Dry skin0ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent106
HP:0000958HP:0000958Dry skin0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000958HP:0000958Dry skin0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent54
HP:0000958HP:0000958Dry skin0ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent54
HP:0000958HP:0000958Dry skin0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent158
HP:0000958HP:0000958Dry skin0ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent158
HP:0000958HP:0000958Dry skin0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome.158
HP:0000958HP:0000958Dry skin0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent83
HP:0000958HP:0000958Dry skin0ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent83
HP:0000958HP:0000958Dry skin0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000958HP:0000958Dry skin0ERCC6 CL E G H20743438OMIM:600630Uv-Sensitive syndrome 1.199
HP:0000958HP:0000958Dry skin0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000958HP:0000958Dry skin0EXOC2 CL E G H5577024968OMIM:619306NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH1
HP:0000958HP:0000958Dry skin0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000958HP:0000958Dry skin0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional172
HP:0000958HP:0000958Dry skin0FLG CL E G H23123748OMIM:146700ICHTHYOSIS VULGARIS63
HP:0000958HP:0000958Dry skin0FLG CL E G H23123748ORPHA:461Recessive X-linked ichthyosisHP:0040281 - Very frequent63
HP:0000958HP:0000958Dry skin0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0000958HP:0000958Dry skin0GINS1 CL E G H983728980OMIM:617827Immunodeficiency 55.
HP:0000958HP:0000958Dry skin0GJA1 CL E G H26974274ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia68
HP:0000958HP:0000958Dry skin0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent68
HP:0000958HP:0000958Dry skin0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent74
HP:0000958HP:0000958Dry skin0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent12
HP:0000958HP:0000958Dry skin0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemiaHP:0040282 - Frequent16
HP:0000958HP:0000958Dry skin0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000958HP:0000958Dry skin0GPNMB CL E G H104574462OMIM:617920Amyloidosis, primary localized cutaneous, 3.
HP:0000958HP:0000958Dry skin0GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040281 - Very frequent53
HP:0000958HP:0000958Dry skin0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000958HP:0000958Dry skin0GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive2
HP:0000958HP:0000958Dry skin0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000958HP:0000958Dry skin0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional21
HP:0000958HP:0000958Dry skin0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0000958HP:0000958Dry skin0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent28
HP:0000958HP:0000958Dry skin0IFT43 CL E G H11275229669OMIM:614099Cranioectodermal dysplasia 3.11
HP:0000958HP:0000958Dry skin0IL2RG CL E G H35616010ORPHA:39041Omenn syndromeHP:0040282 - Frequent48
HP:0000958HP:0000958Dry skin0IL7R CL E G H35756024ORPHA:39041Omenn syndromeHP:0040282 - Frequent94
HP:0000958HP:0000958Dry skin0INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities.229
HP:0000958HP:0000958Dry skin0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040282 - Frequent229
HP:0000958HP:0000958Dry skin0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome.283
HP:0000958HP:0000958Dry skin0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent4
HP:0000958HP:0000958Dry skin0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0000958HP:0000958Dry skin0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndromeHP:0040283 - Occasional
HP:0000958HP:0000958Dry skin0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent196
HP:0000958HP:0000958Dry skin0KRT1 CL E G H38486412ORPHA:530838KRT1-related diffuse nonepidermolytic keratodermaHP:0040282 - Frequent100
HP:0000958HP:0000958Dry skin0KRT14 CL E G H38616416ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome110
HP:0000958HP:0000958Dry skin0KYNU CL E G H89426469ORPHA:79155HydroxykynureninuriaHP:0040282 - Frequent5
HP:0000958HP:0000958Dry skin0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0000958HP:0000958Dry skin0LIG4 CL E G H39816601ORPHA:39041Omenn syndromeHP:0040282 - Frequent88
HP:0000958HP:0000958Dry skin0LIPN CL E G H64341823452ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent1
HP:0000958HP:0000958Dry skin0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0000958HP:0000958Dry skin0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent134
HP:0000958HP:0000958Dry skin0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0000958HP:0000958Dry skin0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040281 - Very frequent178
HP:0000958HP:0000958Dry skin0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000958HP:0000958Dry skin0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0000958HP:0000958Dry skin0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0000958HP:0000958Dry skin0MC1R CL E G H41576929ORPHA:618Familial melanomaHP:0040282 - Frequent124
HP:0000958HP:0000958Dry skin0MGMT CL E G H42557059ORPHA:618Familial melanomaHP:0040282 - Frequent3
HP:0000958HP:0000958Dry skin0MITF CL E G H42867105ORPHA:618Familial melanomaHP:0040282 - Frequent91
HP:0000958HP:0000958Dry skin0MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF.32
HP:0000958HP:0000958Dry skin0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000958HP:0000958Dry skin0MYSM1 CL E G H11480329401OMIM:618116Bone marrow failure syndrome 4.
HP:0000958HP:0000958Dry skin0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040283 - Occasional
HP:0000958HP:0000958Dry skin0NAGA CL E G H46687631OMIM:609242Kanzaki disease.47
HP:0000958HP:0000958Dry skin0NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 660
HP:0000958HP:0000958Dry skin0NIPAL4 CL E G H34893828018ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent60
HP:0000958HP:0000958Dry skin0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0000958HP:0000958Dry skin0NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040282 - Frequent187
HP:0000958HP:0000958Dry skin0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040283 - Occasional138
HP:0000958HP:0000958Dry skin0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040283 - Occasional84
HP:0000958HP:0000958Dry skin0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040282 - Frequent97
HP:0000958HP:0000958Dry skin0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0000958HP:0000958Dry skin0OFD1 CL E G H84812567ORPHA:2750Orofaciodigital syndrome type 1HP:0040283 - Occasional201
HP:0000958HP:0000958Dry skin0OSMR CL E G H91808507OMIM:105250Amyloidosis, primary localized cutaneous, 1.5
HP:0000958HP:0000958Dry skin0OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional41
HP:0000958HP:0000958Dry skin0PAX8 CL E G H78498622OMIM:218700Hypothyroidism, congenital, nongoitrous, 2.63
HP:0000958HP:0000958Dry skin0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type IIHP:0040282 - Frequent531
HP:0000958HP:0000958Dry skin0PEPD CL E G H51848840ORPHA:742Prolidase deficiencyHP:0040281 - Very frequent66
HP:0000958HP:0000958Dry skin0PEX11B CL E G H87998853OMIM:614920Peroxisome biogenesis disorder 14B.4
HP:0000958HP:0000958Dry skin0PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040281 - Very frequent72
HP:0000958HP:0000958Dry skin0PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040281 - Very frequent45
HP:0000958HP:0000958Dry skin0POLH CL E G H54299181ORPHA:90342Xeroderma pigmentosum variantHP:0040282 - Frequent155
HP:0000958HP:0000958Dry skin0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0000958HP:0000958Dry skin0POT1 CL E G H2591317284ORPHA:618Familial melanomaHP:0040282 - Frequent23
HP:0000958HP:0000958Dry skin0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
HP:0000958HP:0000958Dry skin0PRKD1 CL E G H55879407OMIM:617364Congenital heart defects and ectodermal dysplasia.7
HP:0000958HP:0000958Dry skin0PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional34
HP:0000958HP:0000958Dry skin0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0000958HP:0000958Dry skin0RAF1 CL E G H58949829OMIM:611554LEOPARD SYNDROME 2; LPRD2212
HP:0000958HP:0000958Dry skin0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0000958HP:0000958Dry skin0RAG1 CL E G H58969831ORPHA:39041Omenn syndromeHP:0040282 - Frequent127
HP:0000958HP:0000958Dry skin0RAG2 CL E G H58979832ORPHA:39041Omenn syndromeHP:0040282 - Frequent50
HP:0000958HP:0000958Dry skin0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0000958HP:0000958Dry skin0RIPK4 CL E G H54101496ORPHA:1401CHAND syndromeHP:0040282 - Frequent69
HP:0000958HP:0000958Dry skin0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0000958HP:0000958Dry skin0RMRP CL E G H602310031ORPHA:39041Omenn syndromeHP:0040282 - Frequent37
HP:0000958HP:0000958Dry skin0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent33
HP:0000958HP:0000958Dry skin0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent34
HP:0000958HP:0000958Dry skin0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent60
HP:0000958HP:0000958Dry skin0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000958HP:0000958Dry skin0RNF168 CL E G H16591826661OMIM:611943Riddle syndrome.7
HP:0000958HP:0000958Dry skin0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0000958HP:0000958Dry skin0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0000958HP:0000958Dry skin0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000958HP:0000958Dry skin0RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040284 - Very rare1200
HP:0000958HP:0000958Dry skin0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent55
HP:0000958HP:0000958Dry skin0SAMHD1 CL E G H2593915925OMIM:612952Aicardi-Goutieres syndrome 5.55
HP:0000958HP:0000958Dry skin0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000958HP:0000958Dry skin0SDR9C7 CL E G H12121429958ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent2
HP:0000958HP:0000958Dry skin0SKIC2 CL E G H649910898ORPHA:84064Syndromic diarrheaHP:0040283 - Occasional
HP:0000958HP:0000958Dry skin0SKIC3 CL E G H965223639ORPHA:84064Syndromic diarrheaHP:0040283 - Occasional
HP:0000958HP:0000958Dry skin0SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040281 - Very frequent55
HP:0000958HP:0000958Dry skin0SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type55
HP:0000958HP:0000958Dry skin0SLC5A5 CL E G H652811040OMIM:274400Thyroid hormonogenesis, genetic defect in, 1.59
HP:0000958HP:0000958Dry skin0SMARCAD1 CL E G H5691618398ORPHA:384Huriez syndromeHP:0040281 - Very frequent6
HP:0000958HP:0000958Dry skin0SMG8 CL E G H5518125551OMIM:619268ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000958HP:0000958Dry skin0SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional33
HP:0000958HP:0000958Dry skin0SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional24
HP:0000958HP:0000958Dry skin0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000958HP:0000958Dry skin0SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040283 - Occasional100
HP:0000958HP:0000958Dry skin0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000958HP:0000958Dry skin0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ80
HP:0000958HP:0000958Dry skin0STS CL E G H41211425ORPHA:461Recessive X-linked ichthyosisHP:0040281 - Very frequent19
HP:0000958HP:0000958Dry skin0SULT2B1 CL E G H682011459ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent4
HP:0000958HP:0000958Dry skin0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000958HP:0000958Dry skin0TERF2IP CL E G H5438619246ORPHA:618Familial melanomaHP:0040282 - Frequent
HP:0000958HP:0000958Dry skin0TERT CL E G H701511730ORPHA:618Familial melanomaHP:0040282 - Frequent238
HP:0000958HP:0000958Dry skin0TGM1 CL E G H705111777ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent98
HP:0000958HP:0000958Dry skin0THRA CL E G H706711796OMIM:614450Hypothyroidism, congenital, nongoitrous, 6.9
HP:0000958HP:0000958Dry skin0TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 3.60
HP:0000958HP:0000958Dry skin0TNFRSF1B CL E G H713311917ORPHA:2584Classic mycosis fungoidesHP:0040281 - Very frequent
HP:0000958HP:0000958Dry skin0TNFRSF1B CL E G H713311917ORPHA:3162Sézary syndromeHP:0040281 - Very frequent
HP:0000958HP:0000958Dry skin0TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0000958HP:0000958Dry skin0TP63 CL E G H862615979ORPHA:978ADULT syndromeHP:0040281 - Very frequent140
HP:0000958HP:0000958Dry skin0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040281 - Very frequent140
HP:0000958HP:0000958Dry skin0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040283 - Occasional140
HP:0000958HP:0000958Dry skin0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome140
HP:0000958HP:0000958Dry skin0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent56
HP:0000958HP:0000958Dry skin0TRH CL E G H720012298OMIM:275120Thyrotropin-Releasing hormone deficiency.5
HP:0000958HP:0000958Dry skin0TRHR CL E G H720112299ORPHA:99832Resistance to thyrotropin-releasing hormone syndromeHP:0040282 - Frequent2
HP:0000958HP:0000958Dry skin0TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeHP:0040282 - Frequent4
HP:0000958HP:0000958Dry skin0TRIP4 CL E G H932512310OMIM:617066Muscular dystrophy, congenital, Davignon-Chauveau type.4
HP:0000958HP:0000958Dry skin0TRPM1 CL E G H43087146OMIM:613216NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C104
HP:0000958HP:0000958Dry skin0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040282 - Frequent9
HP:0000958HP:0000958Dry skin0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000958HP:0000958Dry skin0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndromeHP:0040282 - Frequent7
HP:0000958HP:0000958Dry skin0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndrome.7
HP:0000958HP:0000958Dry skin0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome.7
HP:0000958HP:0000958Dry skin0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0000958HP:0000958Dry skin0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040281 - Very frequent7
HP:0000958HP:0000958Dry skin0UVSSA CL E G H5765429304OMIM:614640Uv-Sensitive syndrome 3.3
HP:0000958HP:0000958Dry skin0WNT10A CL E G H8032613829ORPHA:248Autosomal recessive hypohidrotic ectodermal dysplasiaHP:0040281 - Very frequent71
HP:0000958HP:0000958Dry skin0WNT10A CL E G H8032613829OMIM:257980Odontoonychodermal dysplasia71
HP:0000958HP:0000958Dry skin0WNT10A CL E G H8032613829OMIM:150400Tooth agenesis, selective, 4HP:0040283 - Occasional71
HP:0000958HP:0000958Dry skin0WNT10B CL E G H748012775OMIM:617073Tooth agenesis, selective, 8HP:0040283 - Occasional4
HP:0000958HP:0000958Dry skin0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent34
HP:0000958HP:0000958Dry skin0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent86


Genes (166) :ABCA1 ABCA12 ACD ADA ADAR ALDH3A2 ALG11 ALOX12B ALOXE3 ARNT2 ASPRV1 ATP7A BANF1 BAP1 BRAF CAMK2B CARS1 CASR CAV1 CD28 CDK4 CDKN2A CDKN2B CHD7 CLDN1 CLDN10 COG6 CST6 CSTB CTLA4 CYP4F22 DCLRE1C DDB2 DDOST DOLK EDA EDAR EDARADD ELOVL1 ELOVL4 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 EXOC2 FDFT1 FGFR1 FLG FUCA1 GINS1 GJA1 GJB3 GJB4 GNA11 GNB2 GPNMB GSN GTF2E2 GTF2H5 HESX1 IDH1 IFIH1 IFT43 IL2RG IL7R INSR KANSL1 KDSR KIF11 KIF15 KRAS KRT1 KRT14 KYNU LIG4 LIPN LSM11 MAP2K1 MAP2K2 MAPK1 MBTPS2 MC1R MGMT MITF MPDU1 MPLKIP MYSM1 NAGA NIPAL4 NLRP1 NOD2 NOTCH2 NSUN2 NTRK1 ODC1 OFD1 OSMR OTX2 PAX8 PCNT PEPD PEX11B PEX7 PHYH POLH POLR3A POT1 PPP2R3C PRKD1 PROKR2 PTPN11 RAF1 RAG1 RAG2 RALGAPA1 RIPK4 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF168 RNU4ATAC RNU7-1 RYR1 SAMHD1 SATB1 SDR9C7 SKIC2 SKIC3 SLC39A4 SLC5A5 SMARCAD1 SMG8 SOX2 SOX3 SPEN SPINK5 SPRED2 SRD5A3 STS SULT2B1 TARS1 TERF2IP TERT TGM1 THRA TINF2 TNFRSF1B TP63 TREX1 TRH TRHR TRIP4 TRPM1 TSHB TTC5 TWIST2 UBE2A UVSSA WNT10A WNT10B XPA XPC

Diseases (132) :ORPHA:31150 OMIM:205400 ORPHA:313 ORPHA:618 ORPHA:39041 ORPHA:51 ORPHA:816 ORPHA:280071 ORPHA:3157 ORPHA:565 OMIM:614008 ORPHA:1340 OMIM:613707 OMIM:163950 OMIM:617799 ORPHA:33364 ORPHA:428 OMIM:606721 ORPHA:2584 ORPHA:3162 OMIM:607626 OMIM:617671 OMIM:614576 OMIM:618535 ORPHA:248 ORPHA:910 ORPHA:300536 OMIM:610768 OMIM:305100 OMIM:129490 OMIM:614940 OMIM:614941 OMIM:618527 OMIM:614457 ORPHA:1955 OMIM:601675 ORPHA:220295 OMIM:610965 OMIM:133540 OMIM:600630 OMIM:216400 OMIM:619306 OMIM:618156 OMIM:146700 ORPHA:461 OMIM:230000 OMIM:617827 ORPHA:1010 ORPHA:317 OMIM:619503 OMIM:617920 ORPHA:85448 OMIM:616943 ORPHA:99646 OMIM:614099 OMIM:262190 ORPHA:769 OMIM:610443 ORPHA:2526 ORPHA:261323 ORPHA:530838 ORPHA:69087 ORPHA:79155 ORPHA:235 OMIM:619087 OMIM:308205 OMIM:308800 OMIM:609180 OMIM:618116 ORPHA:508542 OMIM:609242 OMIM:612281 OMIM:617388 ORPHA:90340 ORPHA:955 ORPHA:642 OMIM:619075 ORPHA:2750 OMIM:105250 OMIM:218700 ORPHA:2637 ORPHA:742 OMIM:614920 ORPHA:773 ORPHA:90342 OMIM:264090 OMIM:618419 OMIM:617364 OMIM:611554 OMIM:611553 OMIM:618797 ORPHA:1401 OMIM:263650 OMIM:611943 OMIM:210710 OMIM:619487 ORPHA:466650 OMIM:612952 OMIM:619229 ORPHA:84064 ORPHA:37 OMIM:201100 OMIM:274400 ORPHA:384 OMIM:619268 OMIM:619312 ORPHA:634 OMIM:619745 OMIM:612379 OMIM:614450 OMIM:613990 OMIM:103285 ORPHA:978 ORPHA:1896 ORPHA:69085 OMIM:129400 OMIM:275120 ORPHA:99832 ORPHA:486815 OMIM:617066 OMIM:613216 ORPHA:90674 OMIM:619244 ORPHA:920 OMIM:200110 OMIM:209885 OMIM:300860 ORPHA:163956 OMIM:614640 OMIM:257980 OMIM:150400 OMIM:617073
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.