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:0008064 | HP:0008064 | Ichthyosis | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040281 - Very frequent | | | 130 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | HP:0040281 - Very frequent | | | 130 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ABCA12 CL E G H | 26154 | 14637 | OMIM:601277 | Ichthyosis, congenital, autosomal recessive 4A | | | | 130 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ABCA12 CL E G H | 26154 | 14637 | OMIM:242500 | Ichthyosis, congenital, autosomal recessive 4B | | | | 130 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 130 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ABHD5 CL E G H | 51099 | 21396 | OMIM:275630 | Chanarin-Dorfman syndrome | | | | 90 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | | | | 90 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | AHSG CL E G H | 197 | 349 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ALDH3A2 CL E G H | 224 | 403 | ORPHA:816 | Sjögren-Larsson syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ALDH3A2 CL E G H | 224 | 403 | OMIM:270200 | Sjogren-Larsson syndrome | . | | | 87 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040281 - Very frequent | | | 75 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | | | | 75 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 75 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ALOX12B CL E G H | 242 | 430 | ORPHA:281122 | Self-improving collodion baby | HP:0040281 - Very frequent | | | 75 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040281 - Very frequent | | | 63 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | | | | 63 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:606545 | Ichthyosis, congenital, autosomal recessive 3 | | | | 63 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 63 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ALOXE3 CL E G H | 59344 | 13743 | ORPHA:281122 | Self-improving collodion baby | HP:0040281 - Very frequent | | | 63 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | . | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | AP1B1 CL E G H | 162 | 554 | ORPHA:171851 | MEDNIK syndrome | HP:0040281 - Very frequent | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | AP1S1 CL E G H | 1174 | 559 | ORPHA:171851 | MEDNIK syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | AP1S1 CL E G H | 1174 | 559 | OMIM:609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | . | | | 1 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ARSL CL E G H | 415 | 719 | OMIM:302950 | Chondrodysplasia punctata 1, X-linked recessive | . | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ASPRV1 CL E G H | 151516 | 26321 | OMIM:146750 | Ichthyosis, lamellar, autosomal dominant | | | | 1 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ASPRV1 CL E G H | 151516 | 26321 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | CARD14 CL E G H | 79092 | 16446 | ORPHA:2897 | Pityriasis rubra pilaris | HP:0040283 - Occasional | | | 33 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | CERS3 CL E G H | 204219 | 23752 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040281 - Very frequent | | | 5 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | CERS3 CL E G H | 204219 | 23752 | OMIM:615023 | Ichthyosis, congenital, autosomal recessive 9 | | | | 5 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 515 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | CHKB CL E G H | 1120 | 1938 | OMIM:602541 | Muscular dystrophy, congenital, Megaconial type | . | | | 53 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | CLDN1 CL E G H | 9076 | 2032 | OMIM:607626 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis | . | | | 11 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | CLDN1 CL E G H | 9076 | 2032 | ORPHA:59303 | Neonatal ichthyosis-sclerosing cholangitis syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | . | | | 678 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | CSTA CL E G H | 1475 | 2481 | ORPHA:263534 | Acral peeling skin syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | CSTA CL E G H | 1475 | 2481 | OMIM:607936 | Peeling skin syndrome 4 | . | | | 4 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | CYP4F22 CL E G H | 126410 | 26820 | OMIM:604777 | Ichthyosis, congenital, autosomal recessive 5 | | | | 54 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | CYP4F22 CL E G H | 126410 | 26820 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 54 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | DOLK CL E G H | 22845 | 23406 | OMIM:610768 | Congenital disorder of glycosylation, type Im | . | | | 55 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | DOLK CL E G H | 22845 | 23406 | ORPHA:91131 | DK1-CDG | HP:0040281 - Very frequent | | | 55 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | DSP CL E G H | 1832 | 3052 | OMIM:615821 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | HP:0040283 - Occasional | | | 747 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | | | | 51 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | EBP CL E G H | 10682 | 3133 | OMIM:300960 | Mend syndrome | . | | | 51 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ELOVL1 CL E G H | 64834 | 14418 | OMIM:618527 | Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features | | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:614457 | Ichthyosis, spastic quadriplegia, and mental retardation | . | | | 62 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040283 - Occasional | | | 107 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | | | | 106 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ERCC3 CL E G H | 2071 | 3435 | OMIM:616390 | Trichothiodystrophy 2, photosensitive | . | | | 54 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040283 - Occasional | | | 68 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | FITM2 CL E G H | 128486 | 16135 | OMIM:618635 | SIDDIQI SYNDROME; SIDDIS | | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | FLG CL E G H | 2312 | 3748 | OMIM:146700 | ICHTHYOSIS VULGARIS | | | | 63 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | FLG CL E G H | 2312 | 3748 | ORPHA:461 | Recessive X-linked ichthyosis | HP:0040281 - Very frequent | | | 63 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | HP:0040281 - Very frequent | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | . | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:602540 | Ichthyosis, hystrix-like, with deafness | . | | | 199 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | . | | | 199 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:494 | Keratoderma hereditarium mutilans | HP:0040283 - Occasional | | | 199 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | HP:0040281 - Very frequent | | | 56 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | GTF2E2 CL E G H | 2961 | 4651 | OMIM:616943 | Trichothiodystrophy 6, nonphotosensitive | . | | | 2 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | . | | | 3 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 113 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | . | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ITGB6 CL E G H | 3694 | 6161 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KDSR CL E G H | 2531 | 4021 | OMIM:617526 | Erythrokeratodermia variabilis et progressiva 4 | | | | 4 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 196 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | HP:0040281 - Very frequent | | | 100 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:113800 | Epidermolytic hyperkeratosis | | | | 100 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:79503 | Ichthyosis hystrix of Curth-Macklin | HP:0040281 - Very frequent | | | 100 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:146590 | Ichthyosis hystrix, Curth-Macklin type | . | | | 100 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KRT1 CL E G H | 3848 | 6412 | OMIM:144200 | Palmoplantar keratoderma, epidermolytic | | | | 100 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KRT10 CL E G H | 3858 | 6413 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | HP:0040281 - Very frequent | | | 45 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:113800 | Epidermolytic hyperkeratosis | | | | 45 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:609165 | Erythroderma, ichthyosiform, congenital reticular | | | | 45 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:146600 | Ichthyosis hystrix gravior | . | | | 45 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KRT10 CL E G H | 3858 | 6413 | OMIM:607602 | Ichthyosis, cyclic, with epidermolytic hyperkeratosis | . | | | 45 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KRT2 CL E G H | 3849 | 6439 | OMIM:146800 | Ichthyosis, Bullous type | | | | 67 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KRT2 CL E G H | 3849 | 6439 | ORPHA:455 | Superficial epidermolytic ichthyosis | HP:0040281 - Very frequent | | | 67 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | KRT9 CL E G H | 3857 | 6447 | OMIM:144200 | Palmoplantar keratoderma, epidermolytic | | | | 66 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | LIPN CL E G H | 643418 | 23452 | OMIM:613943 | Ichthyosis, congenital, autosomal recessive 8 | . | | | 1 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | LIPN CL E G H | 643418 | 23452 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040283 - Occasional | | | 645 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | HP:0040283 - Occasional | | | 645 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | HP:0040281 - Very frequent | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | LSS CL E G H | 4047 | 6708 | ORPHA:2850 | Alopecia-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | LSS CL E G H | 4047 | 6708 | OMIM:618840 | ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR4 | | | | 2 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:619692 | TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9 | | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:85284 | BRESEK syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | MSMO1 CL E G H | 6307 | 10545 | OMIM:616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | | | | 3 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | NEK9 CL E G H | 91754 | 18591 | ORPHA:64754 | Nevus comedonicus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040281 - Very frequent | | | 60 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | NIPAL4 CL E G H | 348938 | 28018 | OMIM:612281 | Ichthyosis, congenital, autosomal recessive 6 | | | | 60 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | NIPAL4 CL E G H | 348938 | 28018 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 60 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040283 - Occasional | | | 217 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040283 - Occasional | | | 187 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 102 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:3204 | Stormorken-Sjaastad-Langslet syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 169 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 75 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 4 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 65 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 66 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 46 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 59 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 62 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 82 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 106 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 47 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 99 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:772 | Infantile Refsum disease | HP:0040283 - Occasional | | | 98 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:614879 | Peroxisome biogenesis disorder 9B | . | | | 72 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | HP:0040281 - Very frequent | | | 72 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:266500 | Refsum disease | . | | | 72 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:215100 | Rhizomelic chondrodysplasia punctata, type 1 | . | | | 72 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | | | | 37 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | HP:0040281 - Very frequent | | | 45 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PHYH CL E G H | 5264 | 8940 | OMIM:266500 | Refsum disease | . | | | 45 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | HP:0040283 - Occasional | | | 46 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PNPLA1 CL E G H | 285848 | 21246 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040281 - Very frequent | | | 47 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PNPLA1 CL E G H | 285848 | 21246 | OMIM:615024 | Ichthyosis, congenital, autosomal recessive 10 | | | | 47 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | POMP CL E G H | 51371 | 20330 | OMIM:601952 | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | . | | | 2 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | POMP CL E G H | 51371 | 20330 | ORPHA:281201 | Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | . | | | 27 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 27 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 26 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SDR9C7 CL E G H | 121214 | 29958 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | . | | | 8 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SLC27A4 CL E G H | 10999 | 10998 | OMIM:608649 | ICHTHYOSIS PREMATURITY SYNDROME; IPS | | | | 26 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SLC27A4 CL E G H | 10999 | 10998 | ORPHA:88621 | Ichthyosis-prematurity syndrome | HP:0040281 - Very frequent | | | 26 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SLURP1 CL E G H | 57152 | 18746 | ORPHA:87503 | Mal de Meleda | HP:0040282 - Frequent | | | 15 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SLURP1 CL E G H | 57152 | 18746 | OMIM:248300 | Meleda disease | | | | 15 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SNAP29 CL E G H | 9342 | 11133 | ORPHA:66631 | CEDNIK syndrome | HP:0040281 - Very frequent | | | 94 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SNAP29 CL E G H | 9342 | 11133 | OMIM:609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | | | | 94 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 61 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | | | | 100 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | HP:0040281 - Very frequent | | | 100 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | . | | | 80 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | HP:0040282 - Frequent | | | 80 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:619016 | IFAP SYNDROME 2; IFAP2 | | | | 1 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | | | | 4 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | ST14 CL E G H | 6768 | 11344 | ORPHA:91132 | Ichthyosis-hypotrichosis syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | . | | | 31 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | STIM1 CL E G H | 6786 | 11386 | ORPHA:3204 | Stormorken-Sjaastad-Langslet syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | STS CL E G H | 412 | 11425 | OMIM:308100 | Ichthyosis, X-linked | . | | | 19 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | STS CL E G H | 412 | 11425 | ORPHA:461 | Recessive X-linked ichthyosis | HP:0040281 - Very frequent | | | 19 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | STS CL E G H | 412 | 11425 | ORPHA:281090 | Syndromic recessive X-linked ichthyosis | HP:0040281 - Very frequent | | | 19 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SULT2B1 CL E G H | 6820 | 11459 | OMIM:617571 | Ichthyosis, congenital, autosomal recessive 14 | | | | 4 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SULT2B1 CL E G H | 6820 | 11459 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 4 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | HP:0040281 - Very frequent | | | 80 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | . | | | 80 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040283 - Occasional | | | 1129 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040283 - Occasional | | | 508 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | TARS1 CL E G H | 6897 | 11572 | OMIM:618546 | Trichothiodystrophy 7, nonphotosensitive | . | | | | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:281127 | Acral self-healing collodion baby | | | | 98 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:100976 | Bathing suit ichthyosis | HP:0040281 - Very frequent | | | 98 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:79394 | Congenital non-bullous ichthyosiform erythroderma | HP:0040281 - Very frequent | | | 98 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | TGM1 CL E G H | 7051 | 11777 | OMIM:242300 | Ichthyosis, congenital, autosomal recessive 1 | | | | 98 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:313 | Lamellar ichthyosis | HP:0040281 - Very frequent | | | 98 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | TGM1 CL E G H | 7051 | 11777 | ORPHA:281122 | Self-improving collodion baby | HP:0040281 - Very frequent | | | 98 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | TGM5 CL E G H | 9333 | 11781 | ORPHA:263534 | Acral peeling skin syndrome | HP:0040282 - Frequent | | | 44 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040283 - Occasional | | | 171 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | TMPRSS6 CL E G H | 164656 | 16517 | ORPHA:209981 | IRIDA syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | VIPAS39 CL E G H | 63894 | 20347 | OMIM:613404 | Arthrogryposis, renal dysfunction, and cholestasis 2 | . | | | 27 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:620009 | | | | | 63 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | VPS33B CL E G H | 26276 | 12712 | OMIM:208085 | Arthrogryposis, renal dysfunction, and cholestasis 1 | . | | | 63 | | |
HP:0008064 | HP:0008064 | Ichthyosis | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0008064 | HP:0007395 | Postnatal-onset ichthyosiform erythroderma | 1 | CL E G H | | | | | | | | | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | ABCA12 CL E G H | 26154 | 14637 | ORPHA:457 | Harlequin ichthyosis | HP:0040281 - Very frequent | | | 130 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | ABCA12 CL E G H | 26154 | 14637 | OMIM:601277 | Ichthyosis, congenital, autosomal recessive 4A | . | | | 130 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | ABCA12 CL E G H | 26154 | 14637 | OMIM:242500 | Ichthyosis, congenital, autosomal recessive 4B | . | | | 130 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | ABHD5 CL E G H | 51099 | 21396 | OMIM:275630 | Chanarin-Dorfman syndrome | | | | 90 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | | | | 90 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | . | | | 75 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | . | | | 63 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:606545 | Ichthyosis, congenital, autosomal recessive 3 | | | | 63 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | ASPRV1 CL E G H | 151516 | 26321 | OMIM:146750 | Ichthyosis, lamellar, autosomal dominant | | | | 1 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | CERS3 CL E G H | 204219 | 23752 | OMIM:615023 | Ichthyosis, congenital, autosomal recessive 9 | . | | | 5 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | CYP4F22 CL E G H | 126410 | 26820 | OMIM:604777 | Ichthyosis, congenital, autosomal recessive 5 | | | | 54 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | . | | | 51 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | | | | 106 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | ERCC3 CL E G H | 2071 | 3435 | OMIM:616390 | Trichothiodystrophy 2, photosensitive | | | | 54 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | | | | | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | | | | 3 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | KDSR CL E G H | 2531 | 4021 | OMIM:617526 | Erythrokeratodermia variabilis et progressiva 4 | | | | 4 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | | | | 100 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | KRT1 CL E G H | 3848 | 6412 | OMIM:113800 | Epidermolytic hyperkeratosis | | | | 100 | | |
HP:0008064 | HP:0007559 | Localized epidermolytic hyperkeratosis | 1 | KRT1 CL E G H | 3848 | 6412 | OMIM:144200 | Palmoplantar keratoderma, epidermolytic | | | | 100 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | KRT10 CL E G H | 3858 | 6413 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | | | | 45 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | KRT10 CL E G H | 3858 | 6413 | OMIM:113800 | Epidermolytic hyperkeratosis | | | | 45 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | KRT10 CL E G H | 3858 | 6413 | OMIM:609165 | Erythroderma, ichthyosiform, congenital reticular | | | | 45 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | KRT10 CL E G H | 3858 | 6413 | OMIM:607602 | Ichthyosis, cyclic, with epidermolytic hyperkeratosis | | | | 45 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | KRT2 CL E G H | 3849 | 6439 | OMIM:146800 | Ichthyosis, Bullous type | | | | 67 | | |
HP:0008064 | HP:0007559 | Localized epidermolytic hyperkeratosis | 1 | KRT9 CL E G H | 3857 | 6447 | OMIM:144200 | Palmoplantar keratoderma, epidermolytic | | | | 66 | | |
HP:0008064 | HP:0007503 | Generalized ichthyosis | 1 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | | | | | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | | | | | | |
HP:0008064 | HP:0007503 | Generalized ichthyosis | 1 | NIPAL4 CL E G H | 348938 | 28018 | OMIM:612281 | Ichthyosis, congenital, autosomal recessive 6 | | | | 60 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | NIPAL4 CL E G H | 348938 | 28018 | OMIM:612281 | Ichthyosis, congenital, autosomal recessive 6 | | | | 60 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | NSDHL CL E G H | 50814 | 13398 | OMIM:308050 | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects | | | | 34 | | |
HP:0008064 | HP:0007503 | Generalized ichthyosis | 1 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 37 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | PNPLA1 CL E G H | 285848 | 21246 | OMIM:615024 | Ichthyosis, congenital, autosomal recessive 10 | . | | | 47 | | |
HP:0008064 | HP:0007503 | Generalized ichthyosis | 1 | PNPLA1 CL E G H | 285848 | 21246 | OMIM:615024 | Ichthyosis, congenital, autosomal recessive 10 | | | | 47 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | POMP CL E G H | 51371 | 20330 | OMIM:601952 | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | | | | 2 | | |
HP:0008064 | HP:0007503 | Generalized ichthyosis | 1 | SLC27A4 CL E G H | 10999 | 10998 | OMIM:608649 | ICHTHYOSIS PREMATURITY SYNDROME; IPS | | | | 26 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | | | | 100 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | | | | 100 | | |
HP:0008064 | HP:0031291 | Ichthyosis follicularis | 1 | SREBF1 CL E G H | 6720 | 11289 | OMIM:619016 | IFAP SYNDROME 2; IFAP2 | | | | 1 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | ST14 CL E G H | 6768 | 11344 | OMIM:602400 | Ichthyosis, congenital, autosomal recessive 11 | . | | | 4 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | STS CL E G H | 412 | 11425 | OMIM:308100 | Ichthyosis, X-linked | . | | | 19 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | SULT2B1 CL E G H | 6820 | 11459 | OMIM:617571 | Ichthyosis, congenital, autosomal recessive 14 | | | | 4 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | TARS1 CL E G H | 6897 | 11572 | OMIM:618546 | Trichothiodystrophy 7, nonphotosensitive | | | | | | |
HP:0008064 | HP:0007559 | Localized epidermolytic hyperkeratosis | 1 | TGM1 CL E G H | 7051 | 11777 | ORPHA:281127 | Acral self-healing collodion baby | HP:0040281 - Very frequent | | | 98 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | TGM1 CL E G H | 7051 | 11777 | ORPHA:100976 | Bathing suit ichthyosis | | | | 98 | | |
HP:0008064 | HP:0007431 | Congenital ichthyosiform erythroderma | 1 | TGM1 CL E G H | 7051 | 11777 | OMIM:242300 | Ichthyosis, congenital, autosomal recessive 1 | . | | | 98 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | ABCA12 CL E G H | 26154 | 14637 | OMIM:601277 | Ichthyosis, congenital, autosomal recessive 4A | | | | 130 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | ABHD5 CL E G H | 51099 | 21396 | OMIM:275630 | Chanarin-Dorfman syndrome | . | | | 90 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | HP:0040281 - Very frequent | | | 90 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | ALOX12B CL E G H | 242 | 430 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | . | | | 75 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:242100 | Ichthyosis, congenital, autosomal recessive 2 | . | | | 63 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | ALOXE3 CL E G H | 59344 | 13743 | OMIM:606545 | Ichthyosis, congenital, autosomal recessive 3 | . | | | 63 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | ASPRV1 CL E G H | 151516 | 26321 | OMIM:146750 | Ichthyosis, lamellar, autosomal dominant | . | | | 1 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | CERS3 CL E G H | 204219 | 23752 | OMIM:615023 | Ichthyosis, congenital, autosomal recessive 9 | | | | 5 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | CYP4F22 CL E G H | 126410 | 26820 | OMIM:604777 | Ichthyosis, congenital, autosomal recessive 5 | . | | | 54 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | | | | 51 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | . | | | 106 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | ERCC3 CL E G H | 2071 | 3435 | OMIM:616390 | Trichothiodystrophy 2, photosensitive | . | | | 54 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | HP:0040281 - Very frequent | | | | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | GTF2H5 CL E G H | 404672 | 21157 | OMIM:616395 | Trichothiodystrophy 3, photosensitive | . | | | 3 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | KDSR CL E G H | 2531 | 4021 | OMIM:617526 | Erythrokeratodermia variabilis et progressiva 4 | | | | 4 | | |
HP:0008064 | HP:0007475 | Congenital bullous ichthyosiform erythroderma | 2 | KRT1 CL E G H | 3848 | 6412 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | HP:0040281 - Very frequent | | | 100 | | |
HP:0008064 | HP:0007475 | Congenital bullous ichthyosiform erythroderma | 2 | KRT1 CL E G H | 3848 | 6412 | OMIM:113800 | Epidermolytic hyperkeratosis | . | | | 100 | | |
HP:0008064 | HP:0007475 | Congenital bullous ichthyosiform erythroderma | 2 | KRT10 CL E G H | 3858 | 6413 | ORPHA:312 | Autosomal dominant epidermolytic ichthyosis | HP:0040281 - Very frequent | | | 45 | | |
HP:0008064 | HP:0007475 | Congenital bullous ichthyosiform erythroderma | 2 | KRT10 CL E G H | 3858 | 6413 | OMIM:113800 | Epidermolytic hyperkeratosis | . | | | 45 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | KRT10 CL E G H | 3858 | 6413 | OMIM:609165 | Erythroderma, ichthyosiform, congenital reticular | | | | 45 | | |
HP:0008064 | HP:0007475 | Congenital bullous ichthyosiform erythroderma | 2 | KRT10 CL E G H | 3858 | 6413 | OMIM:607602 | Ichthyosis, cyclic, with epidermolytic hyperkeratosis | . | | | 45 | | |
HP:0008064 | HP:0007475 | Congenital bullous ichthyosiform erythroderma | 2 | KRT2 CL E G H | 3849 | 6439 | OMIM:146800 | Ichthyosis, Bullous type | . | | | 67 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | LORICRIN CL E G H | 4014 | 6663 | ORPHA:79395 | Keratoderma hereditarium mutilans with ichthyosis | HP:0040281 - Very frequent | | | | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | NIPAL4 CL E G H | 348938 | 28018 | OMIM:612281 | Ichthyosis, congenital, autosomal recessive 6 | . | | | 60 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | PNPLA1 CL E G H | 285848 | 21246 | OMIM:615024 | Ichthyosis, congenital, autosomal recessive 10 | | | | 47 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | POMP CL E G H | 51371 | 20330 | OMIM:601952 | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | . | | | 2 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | . | | | 100 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | HP:0040281 - Very frequent | | | 100 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | SULT2B1 CL E G H | 6820 | 11459 | OMIM:617571 | Ichthyosis, congenital, autosomal recessive 14 | | | | 4 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | TARS1 CL E G H | 6897 | 11572 | OMIM:618546 | Trichothiodystrophy 7, nonphotosensitive | | | | | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | TGM1 CL E G H | 7051 | 11777 | ORPHA:100976 | Bathing suit ichthyosis | HP:0040282 - Frequent | | | 98 | | |
HP:0008064 | HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | 2 | TGM1 CL E G H | 7051 | 11777 | OMIM:242300 | Ichthyosis, congenital, autosomal recessive 1 | | | | 98 | | |