Human Phenotype Ontology 
Grandparent Node:
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Abnormality of skin physiology (HP:0011122)help
Grandparent Node:
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Increased inflammatory response (HP:0012649)help
Parent Node:
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Inflammatory abnormality of the skin (HP:0011123)help
..Starting node
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Erythroderma (HP:0001019)help
Term ID: 1019
Name: Erythroderma
Synonym: Exfoliative dermititis; Generalised erythroderma; Generalised erythrodermia; Generalized erythroderma; Generalized erythrodermia; Red scaly skin caused by inflammatory skin disease
Definition: An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Comments:
Reference: HP:0001019
Genes and Diseases:
 
       Child Nodes:
........expandCongenital exfoliative erythroderma (HP:0007381) help

 Sister Nodes: 
..expandAcne (HP:0001061) help
..expandAtopic dermatitis (HP:0001047) help
..expandCrusting erythematous dermatitis (HP:0007473) help
..expandCutaneous abscess (HP:0031292) help
..expandDeep dermal perivascular inflammatory infiltrate (HP:0031191) help
..expandEczema (HP:0000964) help
..expandErysipelas (HP:0001055) help
..expandErythema nodosum (HP:0012219) help
..expandFolliculitis (HP:0025084) help
..expandNeutrophilic infiltration of the skin (HP:0031234) help
..expandPerifolliculitis (HP:0012322) help
..expandPsoriasiform dermatitis (HP:0003765) help
..expandPustule (HP:0200039) help
..expandRecurrent skin infections (HP:0001581) help
..expandSkin rash (HP:0000988) help
..expandSuperficial dermal perivascular inflammatory infiltrate (HP:0031190) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001019HP:0001019Erythroderma0ABCA12 CL E G H26154457ORPHA136114637607800
HP:0001019HP:0001019Erythroderma0ABCA12 CL E G H26154313ORPHA136114637607800
HP:0001019HP:0001019Erythroderma0ABCA12 CL E G H2615479394ORPHA136114637607800
HP:0001019HP:0001019Erythroderma0ABCA12 CL E G H26154457ORPHA133614637607800
HP:0001019HP:0001019Erythroderma0ABCA12 CL E G H26154313ORPHA133614637607800
HP:0001019HP:0001019Erythroderma0ABCA12 CL E G H2615479394ORPHA133614637607800
HP:0001019HP:0001019Erythroderma0ADA CL E G H10039041ORPHA1387186608958
HP:0001019HP:0001019Erythroderma0ADA CL E G H10039041ORPHA1341186608958
HP:0001019HP:0001019Erythroderma0ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM1329195603639
HP:0001019HP:0001019Erythroderma0ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM1263195603639
HP:0001019HP:0001019Erythroderma0ALOX12B CL E G H242313ORPHA1291430603741
HP:0001019HP:0001019Erythroderma0ALOX12B CL E G H24279394ORPHA1291430603741
HP:0001019HP:0001019Erythroderma0ALOX12B CL E G H242313ORPHA1285430603741
HP:0001019HP:0001019Erythroderma0ALOX12B CL E G H24279394ORPHA1285430603741
HP:0001019HP:0001019Erythroderma0ALOXE3 CL E G H5934479394ORPHA120913743607206
HP:0001019HP:0001019Erythroderma0ALOXE3 CL E G H59344313ORPHA120913743607206
HP:0001019HP:0001019Erythroderma0ALOXE3 CL E G H5934479394ORPHA120213743607206
HP:0001019HP:0001019Erythroderma0ALOXE3 CL E G H59344313ORPHA120213743607206
HP:0001019HP:0001019Erythroderma0CARD14 CL E G H790922897Hypogonadism, isolated, hypogonadotropicORPHA164616446607211
HP:0001019HP:0001019Erythroderma0CARD14 CL E G H790922897Hypogonadism, isolated, hypogonadotropicORPHA152716446607211
HP:0001019HP:0001019Erythroderma0CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA1301653186760
HP:0001019HP:0001019Erythroderma0CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA1281653186760
HP:0001019HP:0001019Erythroderma0CERS3 CL E G H20421979394ORPHA116623752615276
HP:0001019HP:0001019Erythroderma0CERS3 CL E G H20421979394ORPHA116023752615276
HP:0001019HP:0001019Erythroderma0CHD7 CL E G H5563639041ORPHA1198020626608892
HP:0001019HP:0001019Erythroderma0CHD7 CL E G H5563639041ORPHA1175220626608892
HP:0001019HP:0001019Erythroderma0CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA11722505123890
HP:0001019HP:0001019Erythroderma0CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA11462505123890
HP:0001019HP:0001019Erythroderma0CYP4F22 CL E G H126410313ORPHA119126820611495
HP:0001019HP:0001019Erythroderma0CYP4F22 CL E G H126410313ORPHA118626820611495
HP:0001019HP:0001019Erythroderma0DCLRE1C CL E G H6442139041ORPHA159417642605988
HP:0001019HP:0001019Erythroderma0DCLRE1C CL E G H6442139041ORPHA150917642605988
HP:0001019HP:0001019Erythroderma0DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM159417642605988
HP:0001019HP:0001019Erythroderma0DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM150917642605988
HP:0001019HP:0001019Erythroderma0DSG1 CL E G H1828615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige615508C3809719OMIM13093048125670
HP:0001019HP:0001019Erythroderma0DSG1 CL E G H1828615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige615508C3809719OMIM11683048125670
HP:0001019HP:0001019Erythroderma0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12863133300205
HP:0001019HP:0001019Erythroderma0EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12653133300205
HP:0001019HP:0001019Erythroderma0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0001019HP:0001019Erythroderma0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0001019HP:0001019Erythroderma0GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM14824284121011
HP:0001019HP:0001019Erythroderma0GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM14604284121011
HP:0001019HP:0001019Erythroderma0GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM16121157608780
HP:0001019HP:0001019Erythroderma0GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM14421157608780
HP:0001019HP:0001019Erythroderma0IL2RG CL E G H356139041ORPHA14036010308380
HP:0001019HP:0001019Erythroderma0IL2RG CL E G H356139041ORPHA13706010308380
HP:0001019HP:0001019Erythroderma0IL7R CL E G H357539041ORPHA13436024146661
HP:0001019HP:0001019Erythroderma0IL7R CL E G H357539041ORPHA13026024146661
HP:0001019HP:0001019Erythroderma0KIT CL E G H3815280785ORPHA117356342164920
HP:0001019HP:0001019Erythroderma0KIT CL E G H3815280785ORPHA114906342164920
HP:0001019HP:0001019Erythroderma0KRT1 CL E G H3848312ORPHA11456412139350
HP:0001019HP:0001019Erythroderma0KRT1 CL E G H3848312ORPHA11426412139350
HP:0001019HP:0001019Erythroderma0KRT1 CL E G H3848113800Bullous ichthyosiform erythroderma113800C0079153OMIM11456412139350
HP:0001019HP:0001019Erythroderma0KRT1 CL E G H3848113800Bullous ichthyosiform erythroderma113800C0079153OMIM11426412139350
HP:0001019HP:0001019Erythroderma0KRT10 CL E G H3858312ORPHA11086413148080
HP:0001019HP:0001019Erythroderma0KRT10 CL E G H3858312ORPHA11016413148080
HP:0001019HP:0001019Erythroderma0KRT10 CL E G H3858113800Bullous ichthyosiform erythroderma113800C0079153OMIM11086413148080
HP:0001019HP:0001019Erythroderma0KRT10 CL E G H3858113800Bullous ichthyosiform erythroderma113800C0079153OMIM11016413148080
HP:0001019HP:0001019Erythroderma0KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM11086413148080
HP:0001019HP:0001019Erythroderma0KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM11016413148080
HP:0001019HP:0001019Erythroderma0LIG4 CL E G H398139041ORPHA14676601601837
HP:0001019HP:0001019Erythroderma0LIG4 CL E G H398139041ORPHA13886601601837
HP:0001019HP:0001019Erythroderma0LIPN CL E G H643418313ORPHA16523452613924
HP:0001019HP:0001019Erythroderma0LIPN CL E G H643418313ORPHA16323452613924
HP:0001019HP:0001019Erythroderma0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM124215455300294
HP:0001019HP:0001019Erythroderma0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM123115455300294
HP:0001019HP:0001019Erythroderma0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM11007207604041
HP:0001019HP:0001019Erythroderma0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM1957207604041
HP:0001019HP:0001019Erythroderma0NIPAL4 CL E G H34893879394ORPHA115128018609383
HP:0001019HP:0001019Erythroderma0NIPAL4 CL E G H348938313ORPHA115128018609383
HP:0001019HP:0001019Erythroderma0NIPAL4 CL E G H34893879394ORPHA114728018609383
HP:0001019HP:0001019Erythroderma0NIPAL4 CL E G H348938313ORPHA114728018609383
HP:0001019HP:0001019Erythroderma0PNPLA1 CL E G H28584879394ORPHA114121246612121
HP:0001019HP:0001019Erythroderma0PNPLA1 CL E G H28584879394ORPHA113821246612121
HP:0001019HP:0001019Erythroderma0PNPLA1 CL E G H285848615024Autosomal recessive congenital ichthyosis 10615024C3554355OMIM114121246612121
HP:0001019HP:0001019Erythroderma0PNPLA1 CL E G H285848615024Autosomal recessive congenital ichthyosis 10615024C3554355OMIM113821246612121
HP:0001019HP:0001019Erythroderma0RAG1 CL E G H589639041ORPHA14919831179615
HP:0001019HP:0001019Erythroderma0RAG1 CL E G H589639041ORPHA14269831179615
HP:0001019HP:0001019Erythroderma0RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM14919831179615
HP:0001019HP:0001019Erythroderma0RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM14269831179615
HP:0001019HP:0001019Erythroderma0RAG2 CL E G H589739041ORPHA13259832179616
HP:0001019HP:0001019Erythroderma0RAG2 CL E G H589739041ORPHA12789832179616
HP:0001019HP:0001019Erythroderma0RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM13259832179616
HP:0001019HP:0001019Erythroderma0RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM12789832179616
HP:0001019HP:0001019Erythroderma0RMRP CL E G H602339041ORPHA160910031157660
HP:0001019HP:0001019Erythroderma0RMRP CL E G H602339041ORPHA149810031157660
HP:0001019HP:0001019Erythroderma0SDR9C7 CL E G H121214313ORPHA12729958609769
HP:0001019HP:0001019Erythroderma0SDR9C7 CL E G H121214313ORPHA12429958609769
HP:0001019HP:0001019Erythroderma0SPINK5 CL E G H11005256500Netherton syndrome256500C0265962OMIM172815464605010
HP:0001019HP:0001019Erythroderma0SPINK5 CL E G H11005256500Netherton syndrome256500C0265962OMIM163015464605010
HP:0001019HP:0001019Erythroderma0SULT2B1 CL E G H6820313ORPHA14611459604125
HP:0001019HP:0001019Erythroderma0SULT2B1 CL E G H6820313ORPHA14211459604125
HP:0001019HP:0001019Erythroderma0TGM1 CL E G H7051313ORPHA151411777190195
HP:0001019HP:0001019Erythroderma0TGM1 CL E G H705179394ORPHA151411777190195
HP:0001019HP:0001019Erythroderma0TGM1 CL E G H7051313ORPHA147611777190195
HP:0001019HP:0001019Erythroderma0TGM1 CL E G H705179394ORPHA147611777190195
HP:0001019HP:0001019Erythroderma0TGM1 CL E G H7051242300Autosomal recessive congenital ichthyosis 1242300C3536797OMIM151411777190195
HP:0001019HP:0001019Erythroderma0TGM1 CL E G H7051242300Autosomal recessive congenital ichthyosis 1242300C3536797OMIM147611777190195
HP:0001019HP:0001019Erythroderma0TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA15611917191191
HP:0001019HP:0001019Erythroderma0TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA15211917191191
HP:0001019HP:0007381Congenital exfoliative erythroderma1ABCA12 CL E G H26154457ORPHA136114637607800
HP:0001019HP:0007381Congenital exfoliative erythroderma1ABCA12 CL E G H26154313ORPHA136114637607800
HP:0001019HP:0007381Congenital exfoliative erythroderma1ABCA12 CL E G H2615479394ORPHA136114637607800
HP:0001019HP:0007381Congenital exfoliative erythroderma1ABCA12 CL E G H26154457ORPHA133614637607800
HP:0001019HP:0007381Congenital exfoliative erythroderma1ABCA12 CL E G H26154313ORPHA133614637607800
HP:0001019HP:0007381Congenital exfoliative erythroderma1ABCA12 CL E G H2615479394ORPHA133614637607800
HP:0001019HP:0007381Congenital exfoliative erythroderma1ADA CL E G H10039041ORPHA1387186608958
HP:0001019HP:0007381Congenital exfoliative erythroderma1ADA CL E G H10039041ORPHA1341186608958
HP:0001019HP:0007381Congenital exfoliative erythroderma1ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM1329195603639
HP:0001019HP:0007381Congenital exfoliative erythroderma1ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM1263195603639
HP:0001019HP:0007381Congenital exfoliative erythroderma1ALOX12B CL E G H242313ORPHA1291430603741
HP:0001019HP:0007381Congenital exfoliative erythroderma1ALOX12B CL E G H24279394ORPHA1291430603741
HP:0001019HP:0007381Congenital exfoliative erythroderma1ALOX12B CL E G H242313ORPHA1285430603741
HP:0001019HP:0007381Congenital exfoliative erythroderma1ALOX12B CL E G H24279394ORPHA1285430603741
HP:0001019HP:0007381Congenital exfoliative erythroderma1ALOXE3 CL E G H5934479394ORPHA120913743607206
HP:0001019HP:0007381Congenital exfoliative erythroderma1ALOXE3 CL E G H59344313ORPHA120913743607206
HP:0001019HP:0007381Congenital exfoliative erythroderma1ALOXE3 CL E G H59344313ORPHA120213743607206
HP:0001019HP:0007381Congenital exfoliative erythroderma1ALOXE3 CL E G H5934479394ORPHA120213743607206
HP:0001019HP:0007381Congenital exfoliative erythroderma1CARD14 CL E G H790922897Hypogonadism, isolated, hypogonadotropicORPHA164616446607211
HP:0001019HP:0007381Congenital exfoliative erythroderma1CARD14 CL E G H790922897Hypogonadism, isolated, hypogonadotropicORPHA152716446607211
HP:0001019HP:0007381Congenital exfoliative erythroderma1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA1301653186760
HP:0001019HP:0007381Congenital exfoliative erythroderma1CD28 CL E G H9403162Lactate dehydrogenase deficiency type CORPHA1281653186760
HP:0001019HP:0007381Congenital exfoliative erythroderma1CERS3 CL E G H20421979394ORPHA116623752615276
HP:0001019HP:0007381Congenital exfoliative erythroderma1CERS3 CL E G H20421979394ORPHA116023752615276
HP:0001019HP:0007381Congenital exfoliative erythroderma1CHD7 CL E G H5563639041ORPHA1198020626608892
HP:0001019HP:0007381Congenital exfoliative erythroderma1CHD7 CL E G H5563639041ORPHA1175220626608892
HP:0001019HP:0007381Congenital exfoliative erythroderma1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA11722505123890
HP:0001019HP:0007381Congenital exfoliative erythroderma1CTLA4 CL E G H14933162Lactate dehydrogenase deficiency type CORPHA11462505123890
HP:0001019HP:0007381Congenital exfoliative erythroderma1CYP4F22 CL E G H126410313ORPHA119126820611495
HP:0001019HP:0007381Congenital exfoliative erythroderma1CYP4F22 CL E G H126410313ORPHA118626820611495
HP:0001019HP:0007381Congenital exfoliative erythroderma1DCLRE1C CL E G H6442139041ORPHA159417642605988
HP:0001019HP:0007381Congenital exfoliative erythroderma1DCLRE1C CL E G H6442139041ORPHA150917642605988
HP:0001019HP:0007381Congenital exfoliative erythroderma1DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM159417642605988
HP:0001019HP:0007381Congenital exfoliative erythroderma1DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM150917642605988
HP:0001019HP:0007381Congenital exfoliative erythroderma1DSG1 CL E G H1828615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige615508C3809719OMIM13093048125670
HP:0001019HP:0007381Congenital exfoliative erythroderma1DSG1 CL E G H1828615508Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige615508C3809719OMIM11683048125670
HP:0001019HP:0007381Congenital exfoliative erythroderma1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12863133300205
HP:0001019HP:0007381Congenital exfoliative erythroderma1EBP CL E G H10682302960Chondrodysplasia punctata 2 X-linked dominant302960C0282102OMIM12653133300205
HP:0001019HP:0007381Congenital exfoliative erythroderma1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM14793434126340
HP:0001019HP:0007381Congenital exfoliative erythroderma1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM13603434126340
HP:0001019HP:0007381Congenital exfoliative erythroderma1GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM14824284121011
HP:0001019HP:0007381Congenital exfoliative erythroderma1GJB2 CL E G H2706602540Hystrix-like ichthyosis with deafness602540C1865234OMIM14604284121011
HP:0001019HP:0007381Congenital exfoliative erythroderma1GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM16121157608780
HP:0001019HP:0007381Congenital exfoliative erythroderma1GTF2H5 CL E G H404672616395Trichothiodystrophy 3, photosensitive616395C4017171OMIM14421157608780
HP:0001019HP:0007381Congenital exfoliative erythroderma1IL2RG CL E G H356139041ORPHA14036010308380
HP:0001019HP:0007381Congenital exfoliative erythroderma1IL2RG CL E G H356139041ORPHA13706010308380
HP:0001019HP:0007381Congenital exfoliative erythroderma1IL7R CL E G H357539041ORPHA13436024146661
HP:0001019HP:0007381Congenital exfoliative erythroderma1IL7R CL E G H357539041ORPHA13026024146661
HP:0001019HP:0007381Congenital exfoliative erythroderma1KIT CL E G H3815280785ORPHA117356342164920
HP:0001019HP:0007381Congenital exfoliative erythroderma1KIT CL E G H3815280785ORPHA114906342164920
HP:0001019HP:0007381Congenital exfoliative erythroderma1KRT1 CL E G H3848312ORPHA11456412139350
HP:0001019HP:0007381Congenital exfoliative erythroderma1KRT1 CL E G H3848312ORPHA11426412139350
HP:0001019HP:0007381Congenital exfoliative erythroderma1KRT1 CL E G H3848113800Bullous ichthyosiform erythroderma113800C0079153OMIM11456412139350
HP:0001019HP:0007381Congenital exfoliative erythroderma1KRT1 CL E G H3848113800Bullous ichthyosiform erythroderma113800C0079153OMIM11426412139350
HP:0001019HP:0007381Congenital exfoliative erythroderma1KRT10 CL E G H3858312ORPHA11086413148080
HP:0001019HP:0007381Congenital exfoliative erythroderma1KRT10 CL E G H3858312ORPHA11016413148080
HP:0001019HP:0007381Congenital exfoliative erythroderma1KRT10 CL E G H3858113800Bullous ichthyosiform erythroderma113800C0079153OMIM11086413148080
HP:0001019HP:0007381Congenital exfoliative erythroderma1KRT10 CL E G H3858113800Bullous ichthyosiform erythroderma113800C0079153OMIM11016413148080
HP:0001019HP:0007381Congenital exfoliative erythroderma1KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM11086413148080
HP:0001019HP:0007381Congenital exfoliative erythroderma1KRT10 CL E G H3858609165Erythroderma, ichthyosiform, congenital reticular609165C1836681OMIM11016413148080
HP:0001019HP:0007381Congenital exfoliative erythroderma1LIG4 CL E G H398139041ORPHA14676601601837
HP:0001019HP:0007381Congenital exfoliative erythroderma1LIG4 CL E G H398139041ORPHA13886601601837
HP:0001019HP:0007381Congenital exfoliative erythroderma1LIPN CL E G H643418313ORPHA16523452613924
HP:0001019HP:0007381Congenital exfoliative erythroderma1LIPN CL E G H643418313ORPHA16323452613924
HP:0001019HP:0007381Congenital exfoliative erythroderma1MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM124215455300294
HP:0001019HP:0007381Congenital exfoliative erythroderma1MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM123115455300294
HP:0001019HP:0007381Congenital exfoliative erythroderma1MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM11007207604041
HP:0001019HP:0007381Congenital exfoliative erythroderma1MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM1957207604041
HP:0001019HP:0007381Congenital exfoliative erythroderma1NIPAL4 CL E G H34893879394ORPHA115128018609383
HP:0001019HP:0007381Congenital exfoliative erythroderma1NIPAL4 CL E G H348938313ORPHA115128018609383
HP:0001019HP:0007381Congenital exfoliative erythroderma1NIPAL4 CL E G H34893879394ORPHA114728018609383
HP:0001019HP:0007381Congenital exfoliative erythroderma1NIPAL4 CL E G H348938313ORPHA114728018609383
HP:0001019HP:0007381Congenital exfoliative erythroderma1PNPLA1 CL E G H28584879394ORPHA114121246612121
HP:0001019HP:0007381Congenital exfoliative erythroderma1PNPLA1 CL E G H28584879394ORPHA113821246612121
HP:0001019HP:0007381Congenital exfoliative erythroderma1PNPLA1 CL E G H285848615024Autosomal recessive congenital ichthyosis 10615024C3554355OMIM114121246612121
HP:0001019HP:0007381Congenital exfoliative erythroderma1PNPLA1 CL E G H285848615024Autosomal recessive congenital ichthyosis 10615024C3554355OMIM113821246612121
HP:0001019HP:0007381Congenital exfoliative erythroderma1RAG1 CL E G H589639041ORPHA14919831179615
HP:0001019HP:0007381Congenital exfoliative erythroderma1RAG1 CL E G H589639041ORPHA14269831179615
HP:0001019HP:0007381Congenital exfoliative erythroderma1RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM14919831179615
HP:0001019HP:0007381Congenital exfoliative erythroderma1RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM14269831179615
HP:0001019HP:0007381Congenital exfoliative erythroderma1RAG2 CL E G H589739041ORPHA13259832179616
HP:0001019HP:0007381Congenital exfoliative erythroderma1RAG2 CL E G H589739041ORPHA12789832179616
HP:0001019HP:0007381Congenital exfoliative erythroderma1RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM13259832179616
HP:0001019HP:0007381Congenital exfoliative erythroderma1RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM12789832179616
HP:0001019HP:0007381Congenital exfoliative erythroderma1RMRP CL E G H602339041ORPHA160910031157660
HP:0001019HP:0007381Congenital exfoliative erythroderma1RMRP CL E G H602339041ORPHA149810031157660
HP:0001019HP:0007381Congenital exfoliative erythroderma1SDR9C7 CL E G H121214313ORPHA12729958609769
HP:0001019HP:0007381Congenital exfoliative erythroderma1SDR9C7 CL E G H121214313ORPHA12429958609769
HP:0001019HP:0007381Congenital exfoliative erythroderma1SPINK5 CL E G H11005256500Netherton syndrome256500C0265962OMIM172815464605010
HP:0001019HP:0007381Congenital exfoliative erythroderma1SPINK5 CL E G H11005256500Netherton syndrome256500C0265962OMIM163015464605010
HP:0001019HP:0007381Congenital exfoliative erythroderma1SULT2B1 CL E G H6820313ORPHA14611459604125
HP:0001019HP:0007381Congenital exfoliative erythroderma1SULT2B1 CL E G H6820313ORPHA14211459604125
HP:0001019HP:0007381Congenital exfoliative erythroderma1TGM1 CL E G H7051313ORPHA151411777190195
HP:0001019HP:0007381Congenital exfoliative erythroderma1TGM1 CL E G H705179394ORPHA151411777190195
HP:0001019HP:0007381Congenital exfoliative erythroderma1TGM1 CL E G H7051313ORPHA147611777190195
HP:0001019HP:0007381Congenital exfoliative erythroderma1TGM1 CL E G H705179394ORPHA147611777190195
HP:0001019HP:0007381Congenital exfoliative erythroderma1TGM1 CL E G H7051242300Autosomal recessive congenital ichthyosis 1242300C3536797OMIM151411777190195
HP:0001019HP:0007381Congenital exfoliative erythroderma1TGM1 CL E G H7051242300Autosomal recessive congenital ichthyosis 1242300C3536797OMIM147611777190195
HP:0001019HP:0007381Congenital exfoliative erythroderma1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA15611917191191
HP:0001019HP:0007381Congenital exfoliative erythroderma1TNFRSF1B CL E G H71333162Lactate dehydrogenase deficiency type CORPHA15211917191191
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001019HP:0001019Erythroderma0CYP4F22 CL E G H126410604777Autosomal recessive congenital ichthyosis 5604777C1858142OMIM019126820611495
HP:0001019HP:0001019Erythroderma0CYP4F22 CL E G H126410604777Autosomal recessive congenital ichthyosis 5604777C1858142OMIM018626820611495
HP:0001019HP:0001019Erythroderma0EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM02233518605744
HP:0001019HP:0001019Erythroderma0EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM01183518605744
HP:0001019HP:0001019Erythroderma0NIPAL4 CL E G H348938612281Autosomal recessive congenital ichthyosis 6612281C2677065OMIM015128018609383
HP:0001019HP:0001019Erythroderma0NIPAL4 CL E G H348938612281Autosomal recessive congenital ichthyosis 6612281C2677065OMIM014728018609383
HP:0001019HP:0001019Erythroderma0SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA072815464605010
HP:0001019HP:0001019Erythroderma0SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA063015464605010
HP:0001019HP:0007381Congenital exfoliative erythroderma1CYP4F22 CL E G H126410604777Autosomal recessive congenital ichthyosis 5604777C1858142OMIM019126820611495
HP:0001019HP:0007381Congenital exfoliative erythroderma1CYP4F22 CL E G H126410604777Autosomal recessive congenital ichthyosis 5604777C1858142OMIM018626820611495
HP:0001019HP:0007381Congenital exfoliative erythroderma1EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM02233518605744
HP:0001019HP:0007381Congenital exfoliative erythroderma1EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM01183518605744
HP:0001019HP:0007381Congenital exfoliative erythroderma1NIPAL4 CL E G H348938612281Autosomal recessive congenital ichthyosis 6612281C2677065OMIM015128018609383
HP:0001019HP:0007381Congenital exfoliative erythroderma1NIPAL4 CL E G H348938612281Autosomal recessive congenital ichthyosis 6612281C2677065OMIM014728018609383
HP:0001019HP:0007381Congenital exfoliative erythroderma1SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA072815464605010
HP:0001019HP:0007381Congenital exfoliative erythroderma1SPINK5 CL E G H11005634Leber congenital amaurosisC0339527ORPHA063015464605010


Genes (37) :ABCA12 ADA ADAM17 ALOX12B ALOXE3 CARD14 CD28 CERS3 CHD7 CTLA4 CYP4F22 DCLRE1C DSG1 EBP ERCC2 EXTL3 GJB2 GTF2H5 IL2RG IL7R KIT KRT1 KRT10 LIG4 LIPN MBTPS2 MPDU1 NIPAL4 PNPLA1 RAG1 RAG2 RMRP SDR9C7 SPINK5 SULT2B1 TGM1 TNFRSF1B

Diseases (26) :313 457 79394 39041 614328 2897 3162 604777 603554 615508 302960 601675 617425 602540 616395 280785 312 113800 609165 308205 609180 612281 615024 634 256500 242300
 

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