Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | HP:0040281 - Very frequent | | | 130 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | ABCA12 CL E G H | 26154 | 14637 | OMIM:601277 | Ichthyosis, congenital, autosomal recessive 4A | . | | | 130 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | ABCA12 CL E G H | 26154 | 14637 | OMIM:242500 | Ichthyosis, congenital, autosomal recessive 4B | . | | | 130 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | ABHD5 CL E G H | 51099 | 21396 | OMIM:275630 | Chanarin-Dorfman syndrome | | | | 90 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | | | | 90 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | . | | | 75 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | . | | | 63 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:606545 | Ichthyosis, congenital, autosomal recessive 3 | | | | 63 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | ASPRV1 CL E G H | 151516 | 26321 | OMIM:146750 | Ichthyosis, lamellar, autosomal dominant | | | | 1 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | CERS3 CL E G H | 204219 | 23752 | OMIM:615023 | Ichthyosis, congenital, autosomal recessive 9 | . | | | 5 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | CYP4F22 CL E G H | 126410 | 26820 | OMIM:604777 | Ichthyosis, congenital, autosomal recessive 5 | | | | 54 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | . | | | 51 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | | | | 106 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | ERCC3 CL E G H | 2071 | 3435 | OMIM:616390 | Trichothiodystrophy 2, photosensitive | | | | 54 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | | | | | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | KDSR CL E G H | 2531 | 4021 | OMIM:617526 | Erythrokeratodermia variabilis et progressiva 4 | | | | 4 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | | | | 100 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:113800 | Epidermolytic hyperkeratosis | | | | 100 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | KRT10 CL E G H | 3858 | 6413 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | | | | 45 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:113800 | Epidermolytic hyperkeratosis | | | | 45 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:609165 | Erythroderma, ichthyosiform, congenital reticular | | | | 45 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:607602 | Ichthyosis, cyclic, with epidermolytic hyperkeratosis | | | | 45 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | KRT2 CL E G H | 3849 | 6439 | OMIM:146800 | Ichthyosis, Bullous type | | | | 67 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | | | | | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | NIPAL4 CL E G H | 348938 | 28018 | OMIM:612281 | Ichthyosis, congenital, autosomal recessive 6 | | | | 60 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | PNPLA1 CL E G H | 285848 | 21246 | OMIM:615024 | Ichthyosis, congenital, autosomal recessive 10 | . | | | 47 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | POMP CL E G H | 51371 | 20330 | OMIM:601952 | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | | | | 2 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | | | | 100 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | | | | 100 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | . | | | 4 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | STS CL E G H | 412 | 11425 | OMIM:308100 | Ichthyosis, X-linked | . | | | 19 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | SULT2B1 CL E G H | 6820 | 11459 | OMIM:617571 | Ichthyosis, congenital, autosomal recessive 14 | | | | 4 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | TARS1 CL E G H | 6897 | 11572 | OMIM:618546 | Trichothiodystrophy 7, nonphotosensitive | | | | | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:100976 | Bathing suit ichthyosis | | | | 98 | | |
HP:0007431 | HP:0007431 | Congenital ichthyosiform erythroderma | 0 | TGM1 CL E G H | 7051 | 11777 | OMIM:242300 | Ichthyosis, congenital, autosomal recessive 1 | . | | | 98 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | ABCA12 CL E G H | 26154 | 14637 | OMIM:601277 | Ichthyosis, congenital, autosomal recessive 4A | | | | 130 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | ABHD5 CL E G H | 51099 | 21396 | OMIM:275630 | Chanarin-Dorfman syndrome | . | | | 90 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | HP:0040281 - Very frequent | | | 90 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | . | | | 75 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | . | | | 63 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:606545 | Ichthyosis, congenital, autosomal recessive 3 | . | | | 63 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | ASPRV1 CL E G H | 151516 | 26321 | OMIM:146750 | Ichthyosis, lamellar, autosomal dominant | . | | | 1 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | CERS3 CL E G H | 204219 | 23752 | OMIM:615023 | Ichthyosis, congenital, autosomal recessive 9 | | | | 5 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | CYP4F22 CL E G H | 126410 | 26820 | OMIM:604777 | Ichthyosis, congenital, autosomal recessive 5 | . | | | 54 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | | | | 51 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | . | | | 106 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | ERCC3 CL E G H | 2071 | 3435 | OMIM:616390 | Trichothiodystrophy 2, photosensitive | . | | | 54 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | HP:0040281 - Very frequent | | | | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | . | | | 3 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | KDSR CL E G H | 2531 | 4021 | OMIM:617526 | Erythrokeratodermia variabilis et progressiva 4 | | | | 4 | | |
HP:0007431 | HP:0007475 | Congenital bullous ichthyosiform erythroderma | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | HP:0040281 - Very frequent | | | 100 | | |
HP:0007431 | HP:0007475 | Congenital bullous ichthyosiform erythroderma | 1 | KRT1 CL E G H | 3848 | 6412 | OMIM:113800 | Epidermolytic hyperkeratosis | . | | | 100 | | |
HP:0007431 | HP:0007475 | Congenital bullous ichthyosiform erythroderma | 1 | KRT10 CL E G H | 3858 | 6413 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | HP:0040281 - Very frequent | | | 45 | | |
HP:0007431 | HP:0007475 | Congenital bullous ichthyosiform erythroderma | 1 | KRT10 CL E G H | 3858 | 6413 | OMIM:113800 | Epidermolytic hyperkeratosis | . | | | 45 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | KRT10 CL E G H | 3858 | 6413 | OMIM:609165 | Erythroderma, ichthyosiform, congenital reticular | | | | 45 | | |
HP:0007431 | HP:0007475 | Congenital bullous ichthyosiform erythroderma | 1 | KRT10 CL E G H | 3858 | 6413 | OMIM:607602 | Ichthyosis, cyclic, with epidermolytic hyperkeratosis | . | | | 45 | | |
HP:0007431 | HP:0007475 | Congenital bullous ichthyosiform erythroderma | 1 | KRT2 CL E G H | 3849 | 6439 | OMIM:146800 | Ichthyosis, Bullous type | . | | | 67 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | HP:0040281 - Very frequent | | | | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | NIPAL4 CL E G H | 348938 | 28018 | OMIM:612281 | Ichthyosis, congenital, autosomal recessive 6 | . | | | 60 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | PNPLA1 CL E G H | 285848 | 21246 | OMIM:615024 | Ichthyosis, congenital, autosomal recessive 10 | | | | 47 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | POMP CL E G H | 51371 | 20330 | OMIM:601952 | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | . | | | 2 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | . | | | 100 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | HP:0040281 - Very frequent | | | 100 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | SULT2B1 CL E G H | 6820 | 11459 | OMIM:617571 | Ichthyosis, congenital, autosomal recessive 14 | | | | 4 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | TARS1 CL E G H | 6897 | 11572 | OMIM:618546 | Trichothiodystrophy 7, nonphotosensitive | | | | | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | TGM1 CL E G H | 7051 | 11777 | ORPHA:100976 | Bathing suit ichthyosis | HP:0040282 - Frequent | | | 98 | | |
HP:0007431 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 1 | TGM1 CL E G H | 7051 | 11777 | OMIM:242300 | Ichthyosis, congenital, autosomal recessive 1 | | | | 98 | | |