Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001019 | HP:0001019 | Erythroderma | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040281 - Very frequent | | | 130 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | HP:0040282 - Frequent | | | 130 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 130 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | ADAM17 CL E G H | 6868 | 195 | OMIM:614328 | INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1 | | | | 2 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040281 - Very frequent | | | 75 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 75 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040281 - Very frequent | | | 63 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 63 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | . | | | | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | ASPRV1 CL E G H | 151516 | 26321 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | CARD14 CL E G H | 79092 | 16446 | ORPHA:2897 | Pityriasis rubra pilaris | HP:0040281 - Very frequent | | | 33 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 8 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | CD28 CL E G H | 940 | 1653 | ORPHA:3162 | Sézary syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 18 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 24 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | CDSN CL E G H | 1041 | 1802 | OMIM:270300 | Peeling skin syndrome 1 | | | | 7 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | CERS3 CL E G H | 204219 | 23752 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040281 - Very frequent | | | 5 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | CERS3 CL E G H | 204219 | 23752 | OMIM:615023 | Ichthyosis, congenital, autosomal recessive 9 | | | | 5 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:3162 | Sézary syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | CYP4F22 CL E G H | 126410 | 26820 | OMIM:604777 | Ichthyosis, congenital, autosomal recessive 5 | HP:0040283 - Occasional | | | 54 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | CYP4F22 CL E G H | 126410 | 26820 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 54 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | . | | | 94 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | DIP2B CL E G H | 57609 | 29284 | OMIM:136630 | Mental retardation, Fra12a type | | | | 4 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | DSG1 CL E G H | 1828 | 3048 | OMIM:615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | . | | | 16 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | . | | | 51 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | | | | 62 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | | | | 106 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | HP:0040283 - Occasional | | | 3 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | . | | | 199 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | GJB3 CL E G H | 2707 | 4285 | OMIM:133200 | Erythrokeratodermia variabilis et progressiva 1 | | | | 74 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:280785 | Bullous diffuse cutaneous mastocytosis | HP:0040281 - Very frequent | | | 327 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | HP:0040281 - Very frequent | | | 100 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:113800 | Epidermolytic hyperkeratosis | . | | | 100 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | KRT10 CL E G H | 3858 | 6413 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | HP:0040281 - Very frequent | | | 45 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:113800 | Epidermolytic hyperkeratosis | . | | | 45 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:609165 | Erythroderma, ichthyosiform, congenital reticular | . | | | 45 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | LIPN CL E G H | 643418 | 23452 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | LSS CL E G H | 4047 | 6708 | OMIM:618840 | ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4 | | | | 2 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | MPDU1 CL E G H | 9526 | 7207 | OMIM:609180 | Congenital disorder of glycosylation, type IF | . | | | 32 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040281 - Very frequent | | | 60 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | NIPAL4 CL E G H | 348938 | 28018 | OMIM:612281 | Ichthyosis, congenital, autosomal recessive 6 | HP:0040283 - Occasional | | | 60 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 60 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | PNPLA1 CL E G H | 285848 | 21246 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040281 - Very frequent | | | 47 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | PNPLA1 CL E G H | 285848 | 21246 | OMIM:615024 | Ichthyosis, congenital, autosomal recessive 10 | . | | | 47 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 58 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | . | | | 127 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | . | | | 50 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | SDR9C7 CL E G H | 121214 | 29958 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | SLC27A4 CL E G H | 10999 | 10998 | OMIM:608649 | ICHTHYOSIS PREMATURITY SYNDROME; IPS | | | | 26 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | . | | | 100 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 85 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 70 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | SULT2B1 CL E G H | 6820 | 11459 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 4 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:100976 | Bathing suit ichthyosis | HP:0040282 - Frequent | | | 98 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040281 - Very frequent | | | 98 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | TGM1 CL E G H | 7051 | 11777 | OMIM:242300 | Ichthyosis, congenital, autosomal recessive 1 | . | | | 98 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 98 | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:3162 | Sézary syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0001019 | HP:0001019 | Erythroderma | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 116 | | |
HP:0001019 | HP:0007381 | Congenital exfoliative erythroderma | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001019 | HP:0007381 | Congenital exfoliative erythroderma | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0001019 | HP:0007381 | Congenital exfoliative erythroderma | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0001019 | HP:0007381 | Congenital exfoliative erythroderma | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0001019 | HP:0007381 | Congenital exfoliative erythroderma | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001019 | HP:0007381 | Congenital exfoliative erythroderma | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0001019 | HP:0007381 | Congenital exfoliative erythroderma | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001019 | HP:0007381 | Congenital exfoliative erythroderma | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |