Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000988 | HP:0000988 | Skin rash | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040281 - Very frequent | | | 415 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040284 - Very rare | | | 16 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | | | | 75 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | HP:0040283 - Occasional | | | 19 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | | | | 150 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | APOA1 CL E G H | 335 | 600 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 40 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | | | | 1 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | ARPC1B CL E G H | 10095 | 704 | OMIM:617718 | Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease | | | | | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 145 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | B2M CL E G H | 567 | 914 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 8 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | | | | 314 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040282 - Frequent | | | 314 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 4 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | HP:0040282 - Frequent | | | 223 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040281 - Very frequent | | | 109 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 317 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | CD28 CL E G H | 940 | 1653 | ORPHA:2584 | Classic mycosis fungoides | HP:0040281 - Very frequent | | | | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 9 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 6 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | | | | 2 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | CIC CL E G H | 23152 | 14214 | OMIM:617600 | Mental retardation, autosomal dominant 45 | | | | 39 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 118 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | CLEC7A CL E G H | 64581 | 14558 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 3 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | CLTRN CL E G H | 57393 | 29437 | ORPHA:2116 | Hartnup disease | HP:0040282 - Frequent | | | | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | COX4I2 CL E G H | 84701 | 16232 | OMIM:612714 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis | . | | | 13 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:2584 | Classic mycosis fungoides | HP:0040281 - Very frequent | | | 10 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 10 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:152700 | Systemic lupus erythematosus | | | | 10 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | | | | 27 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | | | | 111 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | DNASE1 CL E G H | 1773 | 2956 | OMIM:152700 | Systemic lupus erythematosus | | | | 3 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040281 - Very frequent | | | 3 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040281 - Very frequent | | | 151 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | | | | 51 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040281 - Very frequent | | | 106 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040281 - Very frequent | | | 54 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040281 - Very frequent | | | 158 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040281 - Very frequent | | | 83 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:152700 | Systemic lupus erythematosus | | | | 6 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | FCGR2B CL E G H | 2213 | 3618 | OMIM:152700 | Systemic lupus erythematosus | | | | 2 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | FGA CL E G H | 2243 | 3661 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 47 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040281 - Very frequent | | | 68 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | GJB3 CL E G H | 2707 | 4285 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040281 - Very frequent | | | 74 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | GJB4 CL E G H | 127534 | 4286 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040281 - Very frequent | | | 12 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 1 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | HLCS CL E G H | 3141 | 4976 | OMIM:253270 | Holocarboxylase synthetase deficiency | . | | | 148 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:618963 | IMMUNODEFICIENCY 69; IMD69 | | | | 23 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | IGHG2 CL E G H | 3501 | 5526 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 1 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 7 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | IGKC CL E G H | 3514 | 5716 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 5 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040281 - Very frequent | | | 52 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | IL17F CL E G H | 112744 | 16404 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 14 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | IL17RA CL E G H | 23765 | 5985 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 196 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | IL17RC CL E G H | 84818 | 18358 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 4 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:300400 | Severe combined immunodeficiency, X-linked | . | | | 48 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040282 - Frequent | | | 48 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | IL6 CL E G H | 3569 | 6018 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040284 - Very rare | | | 140 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | KDSR CL E G H | 2531 | 4021 | ORPHA:317 | Erythrokeratodermia variabilis | HP:0040281 - Very frequent | | | 4 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:79455 | Cutaneous mastocytoma | | | | 327 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 327 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | LACC1 CL E G H | 144811 | 26789 | OMIM:618795 | JUVENILE ARTHRITIS; JUVAR | | | | 1 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | LACC1 CL E G H | 144811 | 26789 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040281 - Very frequent | | | 1 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | HP:0040282 - Frequent | | | 70 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:166119 | Isolated osteopoikilosis | | | | 68 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | LMBRD1 CL E G H | 55788 | 23038 | ORPHA:79284 | Methylmalonic acidemia with homocystinuria type cblF | HP:0040283 - Occasional | | | 46 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | . | | | 46 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | LPIN2 CL E G H | 9663 | 14450 | OMIM:609628 | MAJEED SYNDROME; MJDS | | | | 186 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | LYZ CL E G H | 4069 | 6740 | OMIM:105200 | Amyloidosis, familial visceral | . | | | 32 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | HP:0040283 - Occasional | | | 281 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:85414 | Systemic-onset juvenile idiopathic arthritis | HP:0040281 - Very frequent | | | 1 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | . | | | | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | | | | 13 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | | | | 67 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | . | | | 99 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | | | | 217 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040281 - Very frequent | | | 187 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | PDGFRA CL E G H | 5156 | 8803 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 337 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 43 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | . | | | 2 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 58 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | PSMB10 CL E G H | 5699 | 9538 | OMIM:619175 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5 | | | | | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 3 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | PTPN22 CL E G H | 26191 | 9652 | OMIM:152700 | Systemic lupus erythematosus | | | | 3 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | PTPRC CL E G H | 5788 | 9666 | OMIM:619924 | | | | | 25 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 38 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 26 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040283 - Occasional | | | 34 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 181 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 26 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 304 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 237 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | SDHC CL E G H | 6391 | 10682 | ORPHA:44890 | Gastrointestinal stromal tumor | HP:0040283 - Occasional | | | 147 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | | | | 109 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | SLC6A19 CL E G H | 340024 | 27960 | ORPHA:2116 | Hartnup disease | HP:0040282 - Frequent | | | 12 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | SMARCAD1 CL E G H | 56916 | 18398 | ORPHA:1658 | Absence of fingerprints-congenital milia syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | | | | 228 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | | | | 156 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 1 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | HP:0040281 - Very frequent | | | 110 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | 2 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 85 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 70 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 2 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | TEK CL E G H | 7010 | 11724 | ORPHA:1059 | Blue rubber bleb nevus | HP:0040281 - Very frequent | | | 78 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 3 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | TNFAIP3 CL E G H | 7128 | 11896 | OMIM:616744 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL | | | | 26 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040281 - Very frequent | | | 131 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | TNFRSF1B CL E G H | 7133 | 11917 | ORPHA:2584 | Classic mycosis fungoides | HP:0040281 - Very frequent | | | | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | TRAF3IP2 CL E G H | 10758 | 1343 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 4 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | HP:0040284 - Very rare | | | 56 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:152700 | Systemic lupus erythematosus | | | | 56 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 116 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040283 - Occasional | | | 46 | | |
HP:0000988 | HP:0000988 | Skin rash | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0000988 | HP:0033697 | Vesicular eruption | 1 | CL E G H | | | | | | | | | | |
HP:0000988 | HP:0040325 | Bull's eye rash | 1 | CL E G H | | | | | | | | | | |
HP:0000988 | HP:0040324 | Heliotrope rash | 1 | CL E G H | | | | | | | | | | |
HP:0000988 | HP:0033700 | Papulovesicular eruption | 1 | CL E G H | | | | | | | | | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | | | | 150 | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 145 | | |
HP:0000988 | HP:0025300 | Malar rash | 1 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | | | | 314 | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0000988 | HP:0025300 | Malar rash | 1 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | . | | | 87 | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 317 | | |
HP:0000988 | HP:0025300 | Malar rash | 1 | CDK10 CL E G H | 8558 | 1770 | OMIM:617694 | Al Kaissi syndrome | | | | 2 | | |
HP:0000988 | HP:0025300 | Malar rash | 1 | CTLA4 CL E G H | 1493 | 2505 | OMIM:152700 | Systemic lupus erythematosus | . | | | 10 | | |
HP:0000988 | HP:0007417 | Discoid lupus rash | 1 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | |
HP:0000988 | HP:0007417 | Discoid lupus rash | 1 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | |
HP:0000988 | HP:0025300 | Malar rash | 1 | DNASE1 CL E G H | 1773 | 2956 | OMIM:152700 | Systemic lupus erythematosus | . | | | 3 | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | | | | 51 | | |
HP:0000988 | HP:0025300 | Malar rash | 1 | FCGR2A CL E G H | 2212 | 3616 | OMIM:152700 | Systemic lupus erythematosus | . | | | 6 | | |
HP:0000988 | HP:0025300 | Malar rash | 1 | FCGR2B CL E G H | 2213 | 3618 | OMIM:152700 | Systemic lupus erythematosus | . | | | 2 | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0000988 | HP:0033605 | Pustular rash | 1 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0000988 | HP:0025300 | Malar rash | 1 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | | | |
HP:0000988 | HP:0007417 | Discoid lupus rash | 1 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:79455 | Cutaneous mastocytoma | | | | 327 | | |
HP:0000988 | HP:0007417 | Discoid lupus rash | 1 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:166119 | Isolated osteopoikilosis | | | | 68 | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0000988 | HP:0007417 | Discoid lupus rash | 1 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | |
HP:0000988 | HP:0007417 | Discoid lupus rash | 1 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 58 | | |
HP:0000988 | HP:0025300 | Malar rash | 1 | PTPN22 CL E G H | 26191 | 9652 | OMIM:152700 | Systemic lupus erythematosus | . | | | 3 | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 181 | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | | | | 109 | | |
HP:0000988 | HP:0025300 | Malar rash | 1 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | | | |
HP:0000988 | HP:0007417 | Discoid lupus rash | 1 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | | | | 228 | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | | | | 156 | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 1 | | |
HP:0000988 | HP:0007417 | Discoid lupus rash | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | 2 | | |
HP:0000988 | HP:0025300 | Malar rash | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040283 - Occasional | | | 2 | | |
HP:0000988 | HP:0033605 | Pustular rash | 1 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0000988 | HP:0025300 | Malar rash | 1 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 85 | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 70 | | |
HP:0000988 | HP:0033605 | Pustular rash | 1 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | | | | 3 | | |
HP:0000988 | HP:0025300 | Malar rash | 1 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0000988 | HP:0025300 | Malar rash | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:152700 | Systemic lupus erythematosus | . | | | 56 | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 116 | | |
HP:0000988 | HP:4000054 | Exanthem | 1 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0000988 | HP:0033699 | Polymorphic vesicular eruption | 2 | CL E G H | | | | | | | | | | |
HP:0000988 | HP:0033698 | Monomorphic vesicular eruption | 2 | CL E G H | | | | | | | | | | |
HP:0000988 | HP:0030845 | Heliotrope rash of eyelid | 2 | CL E G H | | | | | | | | | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 150 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 145 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 1 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 317 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 51 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 2 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | KIT CL E G H | 3815 | 6342 | ORPHA:79455 | Cutaneous mastocytoma | | | | 327 | | |
HP:0000988 | HP:0012282 | Morbilliform rash | 2 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | | | | 217 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 58 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 181 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 109 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 228 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 156 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 1 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 85 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 70 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 3 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 116 | | |
HP:0000988 | HP:0040186 | Maculopapular exanthema | 2 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |