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:0000964 | HP:0000964 | Eczema | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | HP:0040283 - Occasional | | | 61 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | | | | 223 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | | | | 223 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | C5 CL E G H | 727 | 1331 | OMIM:609536 | C5 deficiency | | | | 16 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:617638 | Immunodeficiency 11B with atopic dermatitis | | | | 45 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CARD14 CL E G H | 79092 | 16446 | ORPHA:2897 | Pityriasis rubra pilaris | HP:0040283 - Occasional | | | 33 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CASP8 CL E G H | 841 | 1509 | OMIM:607271 | CASPASE 8 DEFICIENCY | | | | 37 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CASR CL E G H | 846 | 1514 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040283 - Occasional | | | 272 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CD28 CL E G H | 940 | 1653 | ORPHA:2584 | Classic mycosis fungoides | HP:0040281 - Very frequent | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CD3G CL E G H | 917 | 1675 | OMIM:615607 | Immunodeficiency 17 | . | | | 19 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CDSN CL E G H | 1041 | 1802 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 7 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:498359 | Aquagenic palmoplantar keratoderma | | | | 1371 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CIB1 CL E G H | 10519 | 16920 | ORPHA:302 | Epidermodysplasia verruciformis | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CST6 CL E G H | 1474 | 2478 | OMIM:618535 | Ectodermal dysplasia 15, Hypohidrotic/hair type | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CSTA CL E G H | 1475 | 2481 | ORPHA:263534 | Acral peeling skin syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:616100 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 | | | | 10 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:2584 | Classic mycosis fungoides | HP:0040281 - Very frequent | | | 10 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 27 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | | | | 27 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 111 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | | | | 111 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | DDX41 CL E G H | 51428 | 18674 | OMIM:616871 | Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | . | | | 23 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | . | | | 159 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:617052 | Bone marrow failure syndrome 3 | . | | | 5 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | | | | 217 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | . | | | 217 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | . | | | 115 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | EDAR CL E G H | 10913 | 2895 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 86 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 56 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | FECH CL E G H | 2235 | 3647 | ORPHA:79278 | Autosomal erythropoietic protoporphyria | HP:0040283 - Occasional | | | 145 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | FECH CL E G H | 2235 | 3647 | OMIM:177000 | Protoporphyria, erythropoietic, 1 | . | | | 145 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | FLG CL E G H | 2312 | 3748 | OMIM:146700 | ICHTHYOSIS VULGARIS | | | | 63 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | FLI1 CL E G H | 2313 | 3749 | OMIM:617443 | Bleeding disorder, platelet-type, 21 | HP:0040284 - Very rare | | | 8 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | FOXN1 CL E G H | 8456 | 12765 | OMIM:618806 | T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND | | | | 54 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | . | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040283 - Occasional | | | 16 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | H3-3B CL E G H | 3021 | 4765 | OMIM:619721 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2 | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:600430 | Chromosome 2q37 deletion syndrome | . | | | 33 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | ORPHA:703 | Bullous pemphigoid | HP:0040281 - Very frequent | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | . | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:703 | Bullous pemphigoid | HP:0040281 - Very frequent | | | 2 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | HLCS CL E G H | 3141 | 4976 | ORPHA:79242 | Holocarboxylase synthetase deficiency | HP:0040283 - Occasional | | | 148 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:1525 | Cranio-osteoarthropathy | HP:0040283 - Occasional | | | 55 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | HPGD CL E G H | 3248 | 5154 | OMIM:259100 | Hypertrophic osteoarthropathy, primary, autosomal recessive 1 | | | | 55 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | | | | 55 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | | | | 6 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | IGHG2 CL E G H | 3501 | 5526 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 1 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | IGKC CL E G H | 3514 | 5716 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 5 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | IL4R CL E G H | 3566 | 6015 | OMIM:147050 | Ige responsiveness, atopic | . | | | 3 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619751 | STUVE-WIEDEMANN SYNDROME 2; STWS2 | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | IL7 CL E G H | 3574 | 6023 | ORPHA:302 | Epidermodysplasia verruciformis | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | IL7R CL E G H | 3575 | 6024 | OMIM:608971 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive | . | | | 94 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | . | | | 283 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | KDF1 CL E G H | 126695 | 26624 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 1 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:530838 | KRT1-related diffuse nonepidermolytic keratoderma | | | | 100 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | KRT74 CL E G H | 121391 | 28929 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 5 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | LGI3 CL E G H | 203190 | 18711 | OMIM:620007 | | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | LIG1 CL E G H | 3978 | 6598 | OMIM:619774 | IMMUNODEFICIENCY 96; IMD96 | | | | 9 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | LRRC32 CL E G H | 2615 | 4161 | OMIM:619074 | CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040282 - Frequent | | | 22 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | | | | 77 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | MS4A2 CL E G H | 2206 | 7316 | OMIM:147050 | Ige responsiveness, atopic | . | | | 1 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | MSN CL E G H | 4478 | 7373 | OMIM:300988 | Immunodeficiency 50 | . | | | 2 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | MTHFD1 CL E G H | 4522 | 7432 | OMIM:617780 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | . | | | 5 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | MYSM1 CL E G H | 114803 | 29401 | OMIM:618116 | Bone marrow failure syndrome 4 | . | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | NBEA CL E G H | 26960 | 7648 | OMIM:619157 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE | | | | 3 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 13 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | | | | 13 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 67 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | | | | 67 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 37 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | NCF4 CL E G H | 4689 | 7662 | OMIM:613960 | Chronic granulomatous disease 3, autosomal recessive | | | | 37 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:614262 | Arthrogryposis, perthes disease, and upward gaze palsy | | | | 9 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:186580 | Blau syndrome | . | | | 187 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040282 - Frequent | | | 84 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | HP:0040283 - Occasional | | | 84 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:79254 | Classic phenylketonuria | HP:0040282 - Frequent | | | 641 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | . | | | 96 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | . | | | 92 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040281 - Very frequent | | | 15 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | | | | 46 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:276280 | Hemihyperplasia-multiple lipomatosis syndrome | | | | 162 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | PLA2G7 CL E G H | 7941 | 9040 | OMIM:147050 | Ige responsiveness, atopic | . | | | 5 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | . | | | 1129 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | . | | | 3 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | RAC1 CL E G H | 5879 | 9801 | ORPHA:500159 | Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom | HP:0040283 - Occasional | | | 3 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | HP:0040283 - Occasional | | | 10 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | RIT1 CL E G H | 6016 | 10023 | OMIM:615355 | NOONAN SYNDROME 8; NS8 | | | | 39 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 26 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 67 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 61 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 57 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SIK3 CL E G H | 23387 | 29165 | OMIM:618162 | Spondyloepimetaphyseal dysplasia, Krakow type | . | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SLC30A2 CL E G H | 7780 | 11013 | OMIM:608118 | Zinc deficiency, transient neonatal | . | | | 3 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:167100 | Hypertrophic osteoarthropathy, primary, autosomal dominant | | | | 13 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:614441 | Hypertrophic osteoarthropathy, primary, autosomal recessive 2 | | | | 13 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | | | | 13 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | HP:0040282 - Frequent | | | 146 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SMARCC2 CL E G H | 6601 | 11105 | OMIM:618362 | Coffin-Siris syndrome 8 | HP:0040284 - Very rare | | | 1 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SMG8 CL E G H | 55181 | 25551 | OMIM:619268 | ALZAHRANI-KUWAHARA SYNDROME; ALKUS | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | HP:0040281 - Very frequent | | | 100 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | . | | | 80 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | STAT1 CL E G H | 6772 | 11362 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | 89 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | HP:0040283 - Occasional | | | 89 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:615952 | AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1 | | | | 110 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | HP:0040281 - Very frequent | | | 110 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | STAT5B CL E G H | 6777 | 11367 | OMIM:618985 | GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2 | | | | 12 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | SUOX CL E G H | 6821 | 11460 | OMIM:272300 | SULFOCYSTEINURIA | . | | | 40 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040284 - Very rare | | | 13 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | TGM5 CL E G H | 9333 | 11781 | ORPHA:263534 | Acral peeling skin syndrome | HP:0040282 - Frequent | | | 44 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | TKT CL E G H | 7086 | 11834 | ORPHA:488618 | Transketolase deficiency | | | | 4 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | TMC6 CL E G H | 11322 | 18021 | ORPHA:302 | Epidermodysplasia verruciformis | | | | 10 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | TMC8 CL E G H | 147138 | 20474 | ORPHA:302 | Epidermodysplasia verruciformis | | | | 4 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:2584 | Classic mycosis fungoides | HP:0040281 - Very frequent | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | TOM1 CL E G H | 10043 | 11982 | ORPHA:391487 | Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome | HP:0040282 - Frequent | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | TOM1 CL E G H | 10043 | 11982 | OMIM:619510 | IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85 | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | TRAF3IP2 CL E G H | 10758 | 1343 | OMIM:615527 | Candidiasis, familial, 8 | | | | 4 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | TRAF6 CL E G H | 7189 | 12036 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0000964 | HP:0000964 | Eczema | 0 | WAS CL E G H | 7454 | 12731 | OMIM:313900 | Thrombocytopenia 1 | . | | | 65 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | . | | | 65 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | WIPF1 CL E G H | 7456 | 12736 | OMIM:614493 | WISKOTT-ALDRICH SYNDROME 2; WAS2 | | | | 6 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | | | | 46 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | . | | | 1 | | |
HP:0000964 | HP:0000964 | Eczema | 0 | ZNF750 CL E G H | 79755 | 25843 | OMIM:610227 | Seborrhea-Like dermatitis with psoriasiform elements | | | | 2 | | |
HP:0000964 | HP:0032282 | Contact dermatitis | 1 | CL E G H | | | | | | | | | | |
HP:0000964 | HP:0033564 | Stasis dermatitis | 1 | CL E G H | | | | | | | | | | |
HP:0000964 | HP:0033120 | Nummular eczema | 1 | CL E G H | | | | | | | | | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:619719 | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS | | | | 254 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0000964 | HP:0000976 | Eczematoid dermatitis | 1 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | HP:0040283 - Occasional | | | 223 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | C5 CL E G H | 727 | 1331 | OMIM:609536 | C5 deficiency | | | | 16 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | CARD11 CL E G H | 84433 | 16393 | OMIM:617638 | Immunodeficiency 11B with atopic dermatitis | . | | | 45 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | CDSN CL E G H | 1041 | 1802 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 7 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | CFTR CL E G H | 1080 | 1884 | ORPHA:498359 | Aquagenic palmoplantar keratoderma | HP:0040283 - Occasional | | | 1371 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | CIB1 CL E G H | 10519 | 16920 | ORPHA:302 | Epidermodysplasia verruciformis | HP:0040281 - Very frequent | | | | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000964 | HP:0000976 | Eczematoid dermatitis | 1 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | |
HP:0000964 | HP:0000976 | Eczematoid dermatitis | 1 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | HP:0040281 - Very frequent | | | 217 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | . | | | 217 | | |
HP:0000964 | HP:0000976 | Eczematoid dermatitis | 1 | FLG CL E G H | 2312 | 3748 | OMIM:146700 | ICHTHYOSIS VULGARIS | | | | 63 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | FOXN1 CL E G H | 8456 | 12765 | OMIM:618806 | T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT; TLIND | | | | 54 | | |
HP:0000964 | HP:0000976 | Eczematoid dermatitis | 1 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000964 | HP:0011127 | Perioral eczema | 1 | HLCS CL E G H | 3141 | 4976 | ORPHA:79242 | Holocarboxylase synthetase deficiency | HP:0040281 - Very frequent | | | 148 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | HPGD CL E G H | 3248 | 5154 | OMIM:259100 | Hypertrophic osteoarthropathy, primary, autosomal recessive 1 | . | | | 55 | | |
HP:0000964 | HP:0000976 | Eczematoid dermatitis | 1 | HPGD CL E G H | 3248 | 5154 | OMIM:259100 | Hypertrophic osteoarthropathy, primary, autosomal recessive 1 | . | | | 55 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | HP:0040281 - Very frequent | | | 55 | | |
HP:0000964 | HP:0000976 | Eczematoid dermatitis | 1 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | HP:0040283 - Occasional | | | 55 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | . | | | 6 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | . | | | 28 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | IGHG2 CL E G H | 3501 | 5526 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 1 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | IGKC CL E G H | 3514 | 5716 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 5 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | IL7 CL E G H | 3574 | 6023 | ORPHA:302 | Epidermodysplasia verruciformis | HP:0040281 - Very frequent | | | | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | KRT1 CL E G H | 3848 | 6412 | ORPHA:530838 | KRT1-related diffuse nonepidermolytic keratoderma | HP:0040283 - Occasional | | | 100 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | KRT74 CL E G H | 121391 | 28929 | ORPHA:90368 | Hypotrichosis simplex of the scalp | | | | 5 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | LRRC32 CL E G H | 2615 | 4161 | OMIM:619074 | CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD | | | | | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | MCCC2 CL E G H | 64087 | 6937 | OMIM:210210 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | . | | | 77 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040283 - Occasional | | | 8 | | |
HP:0000964 | HP:0000976 | Eczematoid dermatitis | 1 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | |
HP:0000964 | HP:0000976 | Eczematoid dermatitis | 1 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
HP:0000964 | HP:0011127 | Perioral eczema | 1 | NCF4 CL E G H | 4689 | 7662 | OMIM:613960 | Chronic granulomatous disease 3, autosomal recessive | . | | | 37 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | NEK9 CL E G H | 91754 | 18591 | OMIM:614262 | Arthrogryposis, perthes disease, and upward gaze palsy | . | | | 9 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040282 - Frequent | | | 15 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | HP:0040283 - Occasional | | | 46 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:276280 | Hemihyperplasia-multiple lipomatosis syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | . | | | 10 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040283 - Occasional | | | 67 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040283 - Occasional | | | 61 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040283 - Occasional | | | 57 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0000964 | HP:0000976 | Eczematoid dermatitis | 1 | SLC39A7 CL E G H | 7922 | 4927 | OMIM:619693 | AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE; AGM9 | | | | | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:167100 | Hypertrophic osteoarthropathy, primary, autosomal dominant | | | | 13 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | SLCO2A1 CL E G H | 6578 | 10955 | OMIM:614441 | Hypertrophic osteoarthropathy, primary, autosomal recessive 2 | | | | 13 | | |
HP:0000964 | HP:0000976 | Eczematoid dermatitis | 1 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | HP:0040283 - Occasional | | | 13 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | HP:0040281 - Very frequent | | | 13 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0000964 | HP:0000976 | Eczematoid dermatitis | 1 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | TBC1D2B CL E G H | 23102 | 29183 | ORPHA:397973 | Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | . | | | 32 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | TKT CL E G H | 7086 | 11834 | ORPHA:488618 | Transketolase deficiency | HP:0040283 - Occasional | | | 4 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | TMC6 CL E G H | 11322 | 18021 | ORPHA:302 | Epidermodysplasia verruciformis | HP:0040281 - Very frequent | | | 10 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | TMC8 CL E G H | 147138 | 20474 | ORPHA:302 | Epidermodysplasia verruciformis | HP:0040281 - Very frequent | | | 4 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | TRAF3IP2 CL E G H | 10758 | 1343 | OMIM:615527 | Candidiasis, familial, 8 | . | | | 4 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000964 | HP:0000976 | Eczematoid dermatitis | 1 | ZAP70 CL E G H | 7535 | 12858 | OMIM:269840 | SELECTIVE T-CELL DEFECT | . | | | 46 | | |
HP:0000964 | HP:0001047 | Atopic dermatitis | 1 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | . | | | 1 | | |
HP:0000964 | HP:0001051 | Seborrheic dermatitis | 1 | ZNF750 CL E G H | 79755 | 25843 | OMIM:610227 | Seborrhea-Like dermatitis with psoriasiform elements | . | | | 2 | | |
HP:0000964 | HP:0007573 | Late onset atopic dermatitis | 2 | CL E G H | | | | | | | | | | |
HP:0000964 | HP:0007569 | Generalized seborrheic dermatitis | 2 | C5 CL E G H | 727 | 1331 | OMIM:609536 | C5 deficiency | . | | | 16 | | |