Human Phenotype Ontology 
Grandparent Node:
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Thickened skin (HP:0001072)help
Parent Node:
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Epidermal thickening (HP:0011368)help
..Starting node
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Ichthyosis (HP:0008064)help
Term ID: 8064
Name: Ichthyosis
Synonym: Hypertrophic ichthyosis; Ichthyosiform abnormality of the skin; Ichthyotic skin
Definition: An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Comments:
Reference: HP:0008064
Genes and Diseases:
 
       Child Nodes:
........expandPostnatal-onset ichthyosiform erythroderma (HP:0007395) help
........expandCongenital ichthyosiform erythroderma (HP:0007431) help
................... HP:0007475 Congenital bullous ichthyosiform erythroderma
................... HP:0007479 Congenital nonbullous ichthyosiform erythroderma
........expandGeneralized ichthyosis (HP:0007503) help
........expandLocalized epidermolytic hyperkeratosis (HP:0007559) help
........expandIchthyosis follicularis (HP:0031291) help

 Sister Nodes: 
..expandAcanthosis nigricans (HP:0000956) help
..expandAcrokeratosis (HP:0200016) help
..expandGeneralized keratosis follicularis (HP:0007439) help
..expandHypergranulosis (HP:0025114) help
..expandHyperkeratosis (HP:0000962) help
..expandOrthokeratosis (HP:0040162) help
..expandParakeratosis (HP:0001036) help
..expandPorokeratosis (HP:0200044) 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:0008064HP:0008064Ichthyosis0ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent130
HP:0008064HP:0008064Ichthyosis0ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosisHP:0040281 - Very frequent130
HP:0008064HP:0008064Ichthyosis0ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A130
HP:0008064HP:0008064Ichthyosis0ABCA12 CL E G H2615414637OMIM:242500Ichthyosis, congenital, autosomal recessive 4B130
HP:0008064HP:0008064Ichthyosis0ABCA12 CL E G H2615414637ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent130
HP:0008064HP:0008064Ichthyosis0ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome90
HP:0008064HP:0008064Ichthyosis0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosis90
HP:0008064HP:0008064Ichthyosis0AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent5
HP:0008064HP:0008064Ichthyosis0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040281 - Very frequent87
HP:0008064HP:0008064Ichthyosis0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome.87
HP:0008064HP:0008064Ichthyosis0ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent75
HP:0008064HP:0008064Ichthyosis0ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 275
HP:0008064HP:0008064Ichthyosis0ALOX12B CL E G H242430ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent75
HP:0008064HP:0008064Ichthyosis0ALOX12B CL E G H242430ORPHA:281122Self-improving collodion babyHP:0040281 - Very frequent75
HP:0008064HP:0008064Ichthyosis0ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent63
HP:0008064HP:0008064Ichthyosis0ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 263
HP:0008064HP:0008064Ichthyosis0ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 363
HP:0008064HP:0008064Ichthyosis0ALOXE3 CL E G H5934413743ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent63
HP:0008064HP:0008064Ichthyosis0ALOXE3 CL E G H5934413743ORPHA:281122Self-improving collodion babyHP:0040281 - Very frequent63
HP:0008064HP:0008064Ichthyosis0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040283 - Occasional65
HP:0008064HP:0008064Ichthyosis0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness.
HP:0008064HP:0008064Ichthyosis0AP1B1 CL E G H162554ORPHA:171851MEDNIK syndromeHP:0040281 - Very frequent
HP:0008064HP:0008064Ichthyosis0AP1S1 CL E G H1174559ORPHA:171851MEDNIK syndromeHP:0040281 - Very frequent1
HP:0008064HP:0008064Ichthyosis0AP1S1 CL E G H1174559OMIM:609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma.1
HP:0008064HP:0008064Ichthyosis0ARSL CL E G H415719OMIM:302950Chondrodysplasia punctata 1, X-linked recessive.
HP:0008064HP:0008064Ichthyosis0ASPRV1 CL E G H15151626321OMIM:146750Ichthyosis, lamellar, autosomal dominant1
HP:0008064HP:0008064Ichthyosis0ASPRV1 CL E G H15151626321ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent1
HP:0008064HP:0008064Ichthyosis0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0008064HP:0008064Ichthyosis0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0008064HP:0008064Ichthyosis0CARD14 CL E G H7909216446ORPHA:2897Pityriasis rubra pilarisHP:0040283 - Occasional33
HP:0008064HP:0008064Ichthyosis0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0008064HP:0008064Ichthyosis0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0008064HP:0008064Ichthyosis0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0008064HP:0008064Ichthyosis0CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent5
HP:0008064HP:0008064Ichthyosis0CERS3 CL E G H20421923752OMIM:615023Ichthyosis, congenital, autosomal recessive 95
HP:0008064HP:0008064Ichthyosis0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040283 - Occasional515
HP:0008064HP:0008064Ichthyosis0CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type.53
HP:0008064HP:0008064Ichthyosis0CLDN1 CL E G H90762032OMIM:607626Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis.11
HP:0008064HP:0008064Ichthyosis0CLDN1 CL E G H90762032ORPHA:59303Neonatal ichthyosis-sclerosing cholangitis syndromeHP:0040281 - Very frequent11
HP:0008064HP:0008064Ichthyosis0COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked.678
HP:0008064HP:0008064Ichthyosis0CSTA CL E G H14752481ORPHA:263534Acral peeling skin syndromeHP:0040282 - Frequent4
HP:0008064HP:0008064Ichthyosis0CSTA CL E G H14752481OMIM:607936Peeling skin syndrome 4.4
HP:0008064HP:0008064Ichthyosis0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0008064HP:0008064Ichthyosis0CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 554
HP:0008064HP:0008064Ichthyosis0CYP4F22 CL E G H12641026820ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent54
HP:0008064HP:0008064Ichthyosis0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040283 - Occasional36
HP:0008064HP:0008064Ichthyosis0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare5
HP:0008064HP:0008064Ichthyosis0DOLK CL E G H2284523406OMIM:610768Congenital disorder of glycosylation, type Im.55
HP:0008064HP:0008064Ichthyosis0DOLK CL E G H2284523406ORPHA:91131DK1-CDGHP:0040281 - Very frequent55
HP:0008064HP:0008064Ichthyosis0DSP CL E G H18323052OMIM:615821Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesisHP:0040283 - Occasional747
HP:0008064HP:0008064Ichthyosis0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0008064HP:0008064Ichthyosis0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant51
HP:0008064HP:0008064Ichthyosis0EBP CL E G H106823133OMIM:300960Mend syndrome.51
HP:0008064HP:0008064Ichthyosis0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0008064HP:0008064Ichthyosis0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0008064HP:0008064Ichthyosis0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare1
HP:0008064HP:0008064Ichthyosis0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0008064HP:0008064Ichthyosis0ELOVL4 CL E G H678514415OMIM:614457Ichthyosis, spastic quadriplegia, and mental retardation.62
HP:0008064HP:0008064Ichthyosis0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional107
HP:0008064HP:0008064Ichthyosis0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0008064HP:0008064Ichthyosis0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0008064HP:0008064Ichthyosis0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0008064HP:0008064Ichthyosis0ERCC3 CL E G H20713435OMIM:616390Trichothiodystrophy 2, photosensitive.54
HP:0008064HP:0008064Ichthyosis0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040283 - Occasional2
HP:0008064HP:0008064Ichthyosis0FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040283 - Occasional3
HP:0008064HP:0008064Ichthyosis0FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040283 - Occasional17
HP:0008064HP:0008064Ichthyosis0FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040283 - Occasional172
HP:0008064HP:0008064Ichthyosis0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional68
HP:0008064HP:0008064Ichthyosis0FITM2 CL E G H12848616135OMIM:618635SIDDIQI SYNDROME; SIDDIS
HP:0008064HP:0008064Ichthyosis0FLG CL E G H23123748OMIM:146700ICHTHYOSIS VULGARIS63
HP:0008064HP:0008064Ichthyosis0FLG CL E G H23123748ORPHA:461Recessive X-linked ichthyosisHP:0040281 - Very frequent63
HP:0008064HP:0008064Ichthyosis0FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0008064HP:0008064Ichthyosis0GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040281 - Very frequent
HP:0008064HP:0008064Ichthyosis0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0008064HP:0008064Ichthyosis0GINS1 CL E G H983728980OMIM:617827Immunodeficiency 55.
HP:0008064HP:0008064Ichthyosis0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0008064HP:0008064Ichthyosis0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0008064HP:0008064Ichthyosis0GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilansHP:0040283 - Occasional199
HP:0008064HP:0008064Ichthyosis0GJB2 CL E G H27064284ORPHA:477KID syndromeHP:0040281 - Very frequent199
HP:0008064HP:0008064Ichthyosis0GJB6 CL E G H108044288ORPHA:477KID syndromeHP:0040281 - Very frequent56
HP:0008064HP:0008064Ichthyosis0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0008064HP:0008064Ichthyosis0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0008064HP:0008064Ichthyosis0GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive.2
HP:0008064HP:0008064Ichthyosis0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0008064HP:0008064Ichthyosis0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive.3
HP:0008064HP:0008064Ichthyosis0HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040283 - Occasional21
HP:0008064HP:0008064Ichthyosis0HRAS CL E G H32655173OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.113
HP:0008064HP:0008064Ichthyosis0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040283 - Occasional8
HP:0008064HP:0008064Ichthyosis0IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0008064HP:0008064Ichthyosis0IL2RB CL E G H35606009OMIM:618495Immunodeficiency 63 with lymphoproliferation and autoimmunity.
HP:0008064HP:0008064Ichthyosis0ITGB6 CL E G H36946161ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent8
HP:0008064HP:0008064Ichthyosis0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0008064HP:0008064Ichthyosis0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0008064HP:0008064Ichthyosis0KDSR CL E G H25314021OMIM:617526Erythrokeratodermia variabilis et progressiva 44
HP:0008064HP:0008064Ichthyosis0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0008064HP:0008064Ichthyosis0KRAS CL E G H38456407OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.196
HP:0008064HP:0008064Ichthyosis0KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040281 - Very frequent100
HP:0008064HP:0008064Ichthyosis0KRT1 CL E G H38486412OMIM:113800Epidermolytic hyperkeratosis100
HP:0008064HP:0008064Ichthyosis0KRT1 CL E G H38486412ORPHA:79503Ichthyosis hystrix of Curth-MacklinHP:0040281 - Very frequent100
HP:0008064HP:0008064Ichthyosis0KRT1 CL E G H38486412OMIM:146590Ichthyosis hystrix, Curth-Macklin type.100
HP:0008064HP:0008064Ichthyosis0KRT1 CL E G H38486412OMIM:144200Palmoplantar keratoderma, epidermolytic100
HP:0008064HP:0008064Ichthyosis0KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040281 - Very frequent45
HP:0008064HP:0008064Ichthyosis0KRT10 CL E G H38586413OMIM:113800Epidermolytic hyperkeratosis45
HP:0008064HP:0008064Ichthyosis0KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular45
HP:0008064HP:0008064Ichthyosis0KRT10 CL E G H38586413OMIM:146600Ichthyosis hystrix gravior.45
HP:0008064HP:0008064Ichthyosis0KRT10 CL E G H38586413OMIM:607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis.45
HP:0008064HP:0008064Ichthyosis0KRT2 CL E G H38496439OMIM:146800Ichthyosis, Bullous type67
HP:0008064HP:0008064Ichthyosis0KRT2 CL E G H38496439ORPHA:455Superficial epidermolytic ichthyosisHP:0040281 - Very frequent67
HP:0008064HP:0008064Ichthyosis0KRT9 CL E G H38576447OMIM:144200Palmoplantar keratoderma, epidermolytic66
HP:0008064HP:0008064Ichthyosis0LIPN CL E G H64341823452OMIM:613943Ichthyosis, congenital, autosomal recessive 8.1
HP:0008064HP:0008064Ichthyosis0LIPN CL E G H64341823452ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent1
HP:0008064HP:0008064Ichthyosis0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional645
HP:0008064HP:0008064Ichthyosis0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional645
HP:0008064HP:0008064Ichthyosis0LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosisHP:0040281 - Very frequent
HP:0008064HP:0008064Ichthyosis0LSS CL E G H40476708ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent2
HP:0008064HP:0008064Ichthyosis0LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0008064HP:0008064Ichthyosis0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0008064HP:0008064Ichthyosis0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0008064HP:0008064Ichthyosis0MARS1 CL E G H41416898OMIM:619692TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0008064HP:0008064Ichthyosis0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040283 - Occasional22
HP:0008064HP:0008064Ichthyosis0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040281 - Very frequent22
HP:0008064HP:0008064Ichthyosis0MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0008064HP:0008064Ichthyosis0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0008064HP:0008064Ichthyosis0MSMO1 CL E G H630710545OMIM:616834Microcephaly, congenital cataract, and psoriasiform dermatitis3
HP:0008064HP:0008064Ichthyosis0NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0008064HP:0008064Ichthyosis0NEK9 CL E G H9175418591ORPHA:64754Nevus comedonicus syndromeHP:0040283 - Occasional9
HP:0008064HP:0008064Ichthyosis0NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent60
HP:0008064HP:0008064Ichthyosis0NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 660
HP:0008064HP:0008064Ichthyosis0NIPAL4 CL E G H34893828018ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent60
HP:0008064HP:0008064Ichthyosis0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040283 - Occasional217
HP:0008064HP:0008064Ichthyosis0NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040283 - Occasional187
HP:0008064HP:0008064Ichthyosis0NRAS CL E G H48937989OMIM:163200Schimmelpenning-Feuerstein-Mims syndrome.102
HP:0008064HP:0008064Ichthyosis0NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0008064HP:0008064Ichthyosis0ORAI1 CL E G H8487625896ORPHA:3204Stormorken-Sjaastad-Langslet syndromeHP:0040281 - Very frequent19
HP:0008064HP:0008064Ichthyosis0PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040283 - Occasional169
HP:0008064HP:0008064Ichthyosis0PEX1 CL E G H51898850ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional169
HP:0008064HP:0008064Ichthyosis0PEX10 CL E G H51928851ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional75
HP:0008064HP:0008064Ichthyosis0PEX11B CL E G H87998853ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional4
HP:0008064HP:0008064Ichthyosis0PEX12 CL E G H51938854ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional65
HP:0008064HP:0008064Ichthyosis0PEX13 CL E G H51948855ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional66
HP:0008064HP:0008064Ichthyosis0PEX14 CL E G H51958856ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional46
HP:0008064HP:0008064Ichthyosis0PEX16 CL E G H94098857ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional59
HP:0008064HP:0008064Ichthyosis0PEX19 CL E G H58249713ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional62
HP:0008064HP:0008064Ichthyosis0PEX2 CL E G H58289717ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional82
HP:0008064HP:0008064Ichthyosis0PEX26 CL E G H5567022965ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional106
HP:0008064HP:0008064Ichthyosis0PEX3 CL E G H85048858ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional47
HP:0008064HP:0008064Ichthyosis0PEX5 CL E G H58309719ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional99
HP:0008064HP:0008064Ichthyosis0PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040283 - Occasional98
HP:0008064HP:0008064Ichthyosis0PEX6 CL E G H51908859ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional98
HP:0008064HP:0008064Ichthyosis0PEX7 CL E G H51918860OMIM:614879Peroxisome biogenesis disorder 9B.72
HP:0008064HP:0008064Ichthyosis0PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040281 - Very frequent72
HP:0008064HP:0008064Ichthyosis0PEX7 CL E G H51918860OMIM:266500Refsum disease.72
HP:0008064HP:0008064Ichthyosis0PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 1.72
HP:0008064HP:0008064Ichthyosis0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form37
HP:0008064HP:0008064Ichthyosis0PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040281 - Very frequent45
HP:0008064HP:0008064Ichthyosis0PHYH CL E G H52648940OMIM:266500Refsum disease.45
HP:0008064HP:0008064Ichthyosis0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2HP:0040283 - Occasional46
HP:0008064HP:0008064Ichthyosis0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0008064HP:0008064Ichthyosis0PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040281 - Very frequent36
HP:0008064HP:0008064Ichthyosis0PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent47
HP:0008064HP:0008064Ichthyosis0PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 1047
HP:0008064HP:0008064Ichthyosis0POMP CL E G H5137120330OMIM:601952Keratosis linearis with ichthyosis congenita and sclerosing keratoderma.2
HP:0008064HP:0008064Ichthyosis0POMP CL E G H5137120330ORPHA:281201Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndromeHP:0040281 - Very frequent2
HP:0008064HP:0008064Ichthyosis0PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0008064HP:0008064Ichthyosis0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0008064HP:0008064Ichthyosis0PSAT1 CL E G H2996819129OMIM:616038Neu-Laxova syndrome 2.27
HP:0008064HP:0008064Ichthyosis0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0008064HP:0008064Ichthyosis0RIN2 CL E G H5445318750OMIM:613075Macs syndromeHP:0040283 - Occasional43
HP:0008064HP:0008064Ichthyosis0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0008064HP:0008064Ichthyosis0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare26
HP:0008064HP:0008064Ichthyosis0SDR9C7 CL E G H12121429958ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent2
HP:0008064HP:0008064Ichthyosis0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040283 - Occasional14
HP:0008064HP:0008064Ichthyosis0SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 14.8
HP:0008064HP:0008064Ichthyosis0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0008064HP:0008064Ichthyosis0SLC27A4 CL E G H1099910998OMIM:608649ICHTHYOSIS PREMATURITY SYNDROME; IPS26
HP:0008064HP:0008064Ichthyosis0SLC27A4 CL E G H1099910998ORPHA:88621Ichthyosis-prematurity syndromeHP:0040281 - Very frequent26
HP:0008064HP:0008064Ichthyosis0SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68
HP:0008064HP:0008064Ichthyosis0SLURP1 CL E G H5715218746ORPHA:87503Mal de MeledaHP:0040282 - Frequent15
HP:0008064HP:0008064Ichthyosis0SLURP1 CL E G H5715218746OMIM:248300Meleda disease15
HP:0008064HP:0008064Ichthyosis0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0008064HP:0008064Ichthyosis0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndromeHP:0040281 - Very frequent94
HP:0008064HP:0008064Ichthyosis0SNAP29 CL E G H934211133OMIM:609528Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome94
HP:0008064HP:0008064Ichthyosis0SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040283 - Occasional61
HP:0008064HP:0008064Ichthyosis0SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome100
HP:0008064HP:0008064Ichthyosis0SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040281 - Very frequent100
HP:0008064HP:0008064Ichthyosis0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040283 - Occasional5
HP:0008064HP:0008064Ichthyosis0SRD5A3 CL E G H7964425812OMIM:612379Congenital disorder of glycosylation, type IQ.80
HP:0008064HP:0008064Ichthyosis0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDGHP:0040282 - Frequent80
HP:0008064HP:0008064Ichthyosis0SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0008064HP:0008064Ichthyosis0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare
HP:0008064HP:0008064Ichthyosis0ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 114
HP:0008064HP:0008064Ichthyosis0ST14 CL E G H676811344ORPHA:91132Ichthyosis-hypotrichosis syndromeHP:0040281 - Very frequent4
HP:0008064HP:0008064Ichthyosis0STIM1 CL E G H678611386OMIM:185070Stormorken syndrome.31
HP:0008064HP:0008064Ichthyosis0STIM1 CL E G H678611386ORPHA:3204Stormorken-Sjaastad-Langslet syndromeHP:0040281 - Very frequent31
HP:0008064HP:0008064Ichthyosis0STS CL E G H41211425OMIM:308100Ichthyosis, X-linked.19
HP:0008064HP:0008064Ichthyosis0STS CL E G H41211425ORPHA:461Recessive X-linked ichthyosisHP:0040281 - Very frequent19
HP:0008064HP:0008064Ichthyosis0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosisHP:0040281 - Very frequent19
HP:0008064HP:0008064Ichthyosis0SULT2B1 CL E G H682011459OMIM:617571Ichthyosis, congenital, autosomal recessive 144
HP:0008064HP:0008064Ichthyosis0SULT2B1 CL E G H682011459ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent4
HP:0008064HP:0008064Ichthyosis0SUMF1 CL E G H28536220376ORPHA:585Multiple sulfatase deficiencyHP:0040281 - Very frequent80
HP:0008064HP:0008064Ichthyosis0SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency.80
HP:0008064HP:0008064Ichthyosis0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional1129
HP:0008064HP:0008064Ichthyosis0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional508
HP:0008064HP:0008064Ichthyosis0TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0008064HP:0008064Ichthyosis0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0008064HP:0008064Ichthyosis0TARS1 CL E G H689711572OMIM:618546Trichothiodystrophy 7, nonphotosensitive.
HP:0008064HP:0008064Ichthyosis0TGM1 CL E G H705111777ORPHA:281127Acral self-healing collodion baby98
HP:0008064HP:0008064Ichthyosis0TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosisHP:0040281 - Very frequent98
HP:0008064HP:0008064Ichthyosis0TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040281 - Very frequent98
HP:0008064HP:0008064Ichthyosis0TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 198
HP:0008064HP:0008064Ichthyosis0TGM1 CL E G H705111777ORPHA:313Lamellar ichthyosisHP:0040281 - Very frequent98
HP:0008064HP:0008064Ichthyosis0TGM1 CL E G H705111777ORPHA:281122Self-improving collodion babyHP:0040281 - Very frequent98
HP:0008064HP:0008064Ichthyosis0TGM5 CL E G H933311781ORPHA:263534Acral peeling skin syndromeHP:0040282 - Frequent44
HP:0008064HP:0008064Ichthyosis0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040283 - Occasional171
HP:0008064HP:0008064Ichthyosis0TMPRSS6 CL E G H16465616517ORPHA:209981IRIDA syndromeHP:0040281 - Very frequent65
HP:0008064HP:0008064Ichthyosis0VIPAS39 CL E G H6389420347OMIM:613404Arthrogryposis, renal dysfunction, and cholestasis 2.27
HP:0008064HP:0008064Ichthyosis0VPS33B CL E G H2627612712OMIM:62000963
HP:0008064HP:0008064Ichthyosis0VPS33B CL E G H2627612712OMIM:208085Arthrogryposis, renal dysfunction, and cholestasis 1.63
HP:0008064HP:0008064Ichthyosis0WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040283 - Occasional10
HP:0008064HP:0007395Postnatal-onset ichthyosiform erythroderma1 CL E G H
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosisHP:0040281 - Very frequent130
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A.130
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1ABCA12 CL E G H2615414637OMIM:242500Ichthyosis, congenital, autosomal recessive 4B.130
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome90
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosis90
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2.75
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2.63
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 363
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1ASPRV1 CL E G H15151626321OMIM:146750Ichthyosis, lamellar, autosomal dominant1
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1CERS3 CL E G H20421923752OMIM:615023Ichthyosis, congenital, autosomal recessive 9.5
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 554
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1ERCC3 CL E G H20713435OMIM:616390Trichothiodystrophy 2, photosensitive54
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher disease
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1KDSR CL E G H25314021OMIM:617526Erythrokeratodermia variabilis et progressiva 44
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosis100
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1KRT1 CL E G H38486412OMIM:113800Epidermolytic hyperkeratosis100
HP:0008064HP:0007559Localized epidermolytic hyperkeratosis1KRT1 CL E G H38486412OMIM:144200Palmoplantar keratoderma, epidermolytic100
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosis45
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1KRT10 CL E G H38586413OMIM:113800Epidermolytic hyperkeratosis45
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular45
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1KRT10 CL E G H38586413OMIM:607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis45
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1KRT2 CL E G H38496439OMIM:146800Ichthyosis, Bullous type67
HP:0008064HP:0007559Localized epidermolytic hyperkeratosis1KRT9 CL E G H38576447OMIM:144200Palmoplantar keratoderma, epidermolytic66
HP:0008064HP:0007503Generalized ichthyosis1LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosis
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosis
HP:0008064HP:0007503Generalized ichthyosis1NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 660
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 660
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1NSDHL CL E G H5081413398OMIM:308050Congenital hemidysplasia with ichthyosiform erythroderma and limb defects34
HP:0008064HP:0007503Generalized ichthyosis1PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formHP:0040283 - Occasional37
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 10.47
HP:0008064HP:0007503Generalized ichthyosis1PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 1047
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1POMP CL E G H5137120330OMIM:601952Keratosis linearis with ichthyosis congenita and sclerosing keratoderma2
HP:0008064HP:0007503Generalized ichthyosis1SLC27A4 CL E G H1099910998OMIM:608649ICHTHYOSIS PREMATURITY SYNDROME; IPS26
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1SPINK5 CL E G H1100515464ORPHA:634Netherton syndrome100
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome100
HP:0008064HP:0031291Ichthyosis follicularis1SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 11.4
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1STS CL E G H41211425OMIM:308100Ichthyosis, X-linked.19
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1SULT2B1 CL E G H682011459OMIM:617571Ichthyosis, congenital, autosomal recessive 144
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1TARS1 CL E G H689711572OMIM:618546Trichothiodystrophy 7, nonphotosensitive
HP:0008064HP:0007559Localized epidermolytic hyperkeratosis1TGM1 CL E G H705111777ORPHA:281127Acral self-healing collodion babyHP:0040281 - Very frequent98
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosis98
HP:0008064HP:0007431Congenital ichthyosiform erythroderma1TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 1.98
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2ABCA12 CL E G H2615414637OMIM:601277Ichthyosis, congenital, autosomal recessive 4A130
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome.90
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040281 - Very frequent90
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2ALOX12B CL E G H242430OMIM:242100Ichthyosis, congenital, autosomal recessive 2.75
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2ALOXE3 CL E G H5934413743OMIM:242100Ichthyosis, congenital, autosomal recessive 2.63
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2ALOXE3 CL E G H5934413743OMIM:606545Ichthyosis, congenital, autosomal recessive 3.63
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2ASPRV1 CL E G H15151626321OMIM:146750Ichthyosis, lamellar, autosomal dominant.1
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2CERS3 CL E G H20421923752OMIM:615023Ichthyosis, congenital, autosomal recessive 95
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2CYP4F22 CL E G H12641026820OMIM:604777Ichthyosis, congenital, autosomal recessive 5.54
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant51
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2ERCC3 CL E G H20713435OMIM:616390Trichothiodystrophy 2, photosensitive.54
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2GBA1 CL E G H26294177ORPHA:85212Fetal Gaucher diseaseHP:0040281 - Very frequent
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive.3
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2KDSR CL E G H25314021OMIM:617526Erythrokeratodermia variabilis et progressiva 44
HP:0008064HP:0007475Congenital bullous ichthyosiform erythroderma2KRT1 CL E G H38486412ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040281 - Very frequent100
HP:0008064HP:0007475Congenital bullous ichthyosiform erythroderma2KRT1 CL E G H38486412OMIM:113800Epidermolytic hyperkeratosis.100
HP:0008064HP:0007475Congenital bullous ichthyosiform erythroderma2KRT10 CL E G H38586413ORPHA:312Autosomal dominant epidermolytic ichthyosisHP:0040281 - Very frequent45
HP:0008064HP:0007475Congenital bullous ichthyosiform erythroderma2KRT10 CL E G H38586413OMIM:113800Epidermolytic hyperkeratosis.45
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2KRT10 CL E G H38586413OMIM:609165Erythroderma, ichthyosiform, congenital reticular45
HP:0008064HP:0007475Congenital bullous ichthyosiform erythroderma2KRT10 CL E G H38586413OMIM:607602Ichthyosis, cyclic, with epidermolytic hyperkeratosis.45
HP:0008064HP:0007475Congenital bullous ichthyosiform erythroderma2KRT2 CL E G H38496439OMIM:146800Ichthyosis, Bullous type.67
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2LORICRIN CL E G H40146663ORPHA:79395Keratoderma hereditarium mutilans with ichthyosisHP:0040281 - Very frequent
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2NIPAL4 CL E G H34893828018OMIM:612281Ichthyosis, congenital, autosomal recessive 6.60
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2PNPLA1 CL E G H28584821246OMIM:615024Ichthyosis, congenital, autosomal recessive 1047
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2POMP CL E G H5137120330OMIM:601952Keratosis linearis with ichthyosis congenita and sclerosing keratoderma.2
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2SPINK5 CL E G H1100515464OMIM:256500Netherton syndrome.100
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2SPINK5 CL E G H1100515464ORPHA:634Netherton syndromeHP:0040281 - Very frequent100
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2SULT2B1 CL E G H682011459OMIM:617571Ichthyosis, congenital, autosomal recessive 144
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2TARS1 CL E G H689711572OMIM:618546Trichothiodystrophy 7, nonphotosensitive
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2TGM1 CL E G H705111777ORPHA:100976Bathing suit ichthyosisHP:0040282 - Frequent98
HP:0008064HP:0007479Congenital nonbullous ichthyosiform erythroderma2TGM1 CL E G H705111777OMIM:242300Ichthyosis, congenital, autosomal recessive 198


Genes (140) :ABCA12 ABHD5 AHSG ALDH3A2 ALOX12B ALOXE3 ANOS1 AP1B1 AP1S1 ARSL ASPRV1 BRAF CARD14 CARMIL2 CARS1 CCDC141 CERS3 CHD7 CHKB CLDN1 COL4A5 CSTA CWC27 CYP4F22 DCC DNAJC21 DOLK DSP DUSP6 EBP EFL1 ELOVL1 ELOVL4 EMD ERCC2 ERCC3 FEZF1 FGF17 FGF8 FGFR1 FHL1 FITM2 FLG FLRT3 GBA1 GINS1 GJB2 GJB6 GNB2 GTF2E2 GTF2H5 HESX1 HRAS HS6ST1 IL17RD IL2RB ITGB6 KANSL1 KDSR KRAS KRT1 KRT10 KRT2 KRT9 LIPN LMNA LORICRIN LSS MAP2K1 MAP2K2 MARS1 MBTPS2 MPDU1 MPLKIP MSMO1 NDNF NEK9 NIPAL4 NLRP3 NOD2 NRAS NSDHL ORAI1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHGDH PHYH PIGA PIGL PNPLA1 POMP PROK2 PROKR2 PSAT1 RIN2 RNF113A SBDS SDR9C7 SEMA3A SGPL1 SHOC2 SLC27A4 SLC29A3 SLURP1 SMARCA2 SNAP29 SOX10 SPINK5 SPRY4 SRD5A3 SREBF1 SRP54 ST14 STIM1 STS SULT2B1 SUMF1 SYNE1 SYNE2 TACR3 TARS1 TGM1 TGM5 TMEM43 TMPRSS6 VIPAS39 VPS33B WDR11

Diseases (137) :ORPHA:79394 ORPHA:457 OMIM:601277 OMIM:242500 ORPHA:313 OMIM:275630 ORPHA:98907 ORPHA:2850 ORPHA:816 OMIM:270200 OMIM:242100 ORPHA:281122 OMIM:606545 ORPHA:478 OMIM:242150 ORPHA:171851 OMIM:609313 OMIM:302950 OMIM:146750 ORPHA:1340 OMIM:115150 ORPHA:2897 OMIM:618131 ORPHA:33364 OMIM:615023 OMIM:602541 OMIM:607626 ORPHA:59303 OMIM:301050 ORPHA:263534 OMIM:607936 ORPHA:166035 OMIM:604777 ORPHA:811 OMIM:610768 ORPHA:91131 OMIM:615821 OMIM:302960 OMIM:300960 ORPHA:401973 ORPHA:35173 OMIM:618527 OMIM:614457 ORPHA:98863 OMIM:601675 OMIM:616390 OMIM:618635 OMIM:146700 ORPHA:461 ORPHA:85212 OMIM:608013 OMIM:617827 OMIM:602540 OMIM:148210 ORPHA:494 ORPHA:477 OMIM:619503 OMIM:616943 OMIM:616395 OMIM:163200 OMIM:618495 ORPHA:363958 ORPHA:363965 OMIM:617526 ORPHA:312 OMIM:113800 ORPHA:79503 OMIM:146590 OMIM:144200 OMIM:609165 OMIM:146600 OMIM:607602 OMIM:146800 ORPHA:455 OMIM:613943 ORPHA:98853 ORPHA:98855 ORPHA:79395 OMIM:618840 OMIM:619692 ORPHA:85284 ORPHA:2273 ORPHA:79323 OMIM:616834 ORPHA:64754 OMIM:612281 ORPHA:575 ORPHA:90340 OMIM:308050 ORPHA:3204 ORPHA:3220 ORPHA:772 OMIM:614879 ORPHA:773 OMIM:266500 OMIM:215100 ORPHA:79351 OMIM:300868 OMIM:301072 ORPHA:3474 OMIM:615024 OMIM:601952 ORPHA:281201 OMIM:616038 ORPHA:284417 OMIM:613075 OMIM:617575 OMIM:607721 OMIM:608649 ORPHA:88621 ORPHA:168569 ORPHA:87503 OMIM:248300 OMIM:601358 ORPHA:66631 OMIM:609528 OMIM:256500 ORPHA:634 OMIM:612379 ORPHA:324737 OMIM:619016 OMIM:602400 ORPHA:91132 OMIM:185070 OMIM:308100 ORPHA:281090 OMIM:617571 ORPHA:585 OMIM:272200 OMIM:618546 ORPHA:281127 ORPHA:100976 OMIM:242300 ORPHA:209981 OMIM:613404 OMIM:620009 OMIM:208085
 

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