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:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | | | | 75 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 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:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 145 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | | | | 3 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | | | | 3 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | | | | 323 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | CARD10 CL E G H | 29775 | 16422 | OMIM:619632 | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89 | | | | 5 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | CARD11 CL E G H | 84433 | 16393 | OMIM:617638 | Immunodeficiency 11B with atopic dermatitis | | | | 45 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | CDSN CL E G H | 1041 | 1802 | OMIM:270300 | Peeling skin syndrome 1 | | | | 7 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | | | | 515 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 38 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | | | | 94 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 79 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | | | | 79 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | | | | 79 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 56 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | | | | 52 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | | | | 48 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 327 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | | | | 88 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | PDGFRA CL E G H | 5156 | 8803 | OMIM:607685 | Hypereosinophilic syndrome, idiopathic | | | | 337 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:131440 | Myeloproliferative disorder, chronic, with eosinophilia | | | | 28 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | | | | 127 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | | | | 127 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | | | | 50 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | | | | 50 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | | | | 37 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | SLC27A4 CL E G H | 10999 | 10998 | ORPHA:88621 | Ichthyosis-prematurity syndrome | | | | 26 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | | | | 101 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | | | | 100 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | | | | 1 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 1 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | | | | 110 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | TBX21 CL E G H | 30009 | 11599 | OMIM:619630 | IMMUNODEFICIENCY 88; IMD88 | | | | 1 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 82 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 3 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | TRAC CL E G H | 28755 | 12029 | OMIM:615387 | T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY | | | | 1 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0001879 | HP:0001879 | Abnormal eosinophil morphology | 0 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | | | | 1 | | |
HP:0001879 | HP:0034253 | Eosinophil nuclear hypersegmentation | 1 | CL E G H | | | | | | | | | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | | | | 75 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | 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:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 145 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | | | | 3 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | | | | 3 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | | | | 323 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | CARD10 CL E G H | 29775 | 16422 | OMIM:619632 | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89 | | | | 5 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | CARD11 CL E G H | 84433 | 16393 | OMIM:617638 | Immunodeficiency 11B with atopic dermatitis | | | | 45 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 87 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | | | | 87 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 8 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 18 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | | | | 24 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | CDSN CL E G H | 1041 | 1802 | OMIM:270300 | Peeling skin syndrome 1 | | | | 7 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | | | | 515 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 38 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | | | | 94 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 79 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | | | | 79 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | | | | 79 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | | | | 3 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 59 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | | | | 37 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 56 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | | | | 52 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | | | | 52 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | | | | 48 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | | | | 94 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | | | | 94 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 327 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | | | | 88 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | PDGFRA CL E G H | 5156 | 8803 | OMIM:607685 | Hypereosinophilic syndrome, idiopathic | | | | 337 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | PDGFRB CL E G H | 5159 | 8804 | OMIM:131440 | Myeloproliferative disorder, chronic, with eosinophilia | | | | 28 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | 10 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | | | | 127 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | | | | 127 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 127 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | | | | 50 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | | | | 50 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | | | | 50 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | | | | | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | | | | 37 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | | | | 15 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | SLC27A4 CL E G H | 10999 | 10998 | ORPHA:88621 | Ichthyosis-prematurity syndrome | | | | 26 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | | | | 101 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | | | | 100 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | | | | 1 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 1 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | | | | 110 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | TBX21 CL E G H | 30009 | 11599 | OMIM:619630 | IMMUNODEFICIENCY 88; IMD88 | | | | 1 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 82 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | | | | 3 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | TRAC CL E G H | 28755 | 12029 | OMIM:615387 | T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY | | | | 1 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | | | | 46 | | |
HP:0001879 | HP:0020064 | Abnormal eosinophil count | 1 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | | | | 1 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | ADA CL E G H | 100 | 186 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 75 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | 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:0001879 | HP:0001880 | Eosinophilia | 2 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 145 | | |
HP:0001879 | HP:0031891 | Decreased eosinophil count | 2 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | . | | | 3 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | HP:0040284 - Very rare | | | 3 | | |
HP:0001879 | HP:0031891 | Decreased eosinophil count | 2 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040284 - Very rare | | | 1 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | . | | | 323 | | |
HP:0001879 | HP:0031891 | Decreased eosinophil count | 2 | CARD10 CL E G H | 29775 | 16422 | OMIM:619632 | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89 | | | | 5 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | CARD11 CL E G H | 84433 | 16393 | OMIM:617638 | Immunodeficiency 11B with atopic dermatitis | . | | | 45 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | . | | | 87 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | CD247 CL E G H | 919 | 1677 | OMIM:610163 | IMMUNODEFICIENCY 25; IMD25 | | | | 8 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | CD247 CL E G H | 919 | 1677 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 8 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | CD3D CL E G H | 915 | 1673 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 18 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | CD3E CL E G H | 916 | 1674 | ORPHA:169160 | T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta | HP:0040283 - Occasional | | | 24 | | |
HP:0001879 | HP:0031891 | Decreased eosinophil count | 2 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | CDSN CL E G H | 1041 | 1802 | OMIM:270300 | Peeling skin syndrome 1 | | | | 7 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | CHD7 CL E G H | 55636 | 20626 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 38 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 94 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | . | | | 94 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:602450 | Severe combined immunodeficiency with sensitivity to ionizing radiation | | | | 94 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | . | | | 217 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 79 | | |
HP:0001879 | HP:0031891 | Decreased eosinophil count | 2 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040283 - Occasional | | | 79 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | ELANE CL E G H | 1991 | 3309 | OMIM:202700 | Neutropenia, severe congenital, 1, autosomal dominant | . | | | 79 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | . | | | 3 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | FOXP3 CL E G H | 50943 | 6106 | OMIM:304790 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | | | | 32 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 56 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040284 - Very rare | | | 2 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040282 - Frequent | | | 52 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | IL2RG CL E G H | 3561 | 6010 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | IL6ST CL E G H | 3572 | 6021 | OMIM:618523 | HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B | | | | | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | IL7R CL E G H | 3575 | 6024 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 94 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 327 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | LIG4 CL E G H | 3981 | 6601 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | NLRP3 CL E G H | 114548 | 16400 | OMIM:607115 | CINCA SYNDROME; CINCA | | | | 217 | | |
HP:0001879 | HP:0031891 | Decreased eosinophil count | 2 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | PDGFRA CL E G H | 5156 | 8803 | OMIM:607685 | Hypereosinophilic syndrome, idiopathic | . | | | 337 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | PDGFRB CL E G H | 5159 | 8804 | OMIM:131440 | Myeloproliferative disorder, chronic, with eosinophilia | . | | | 28 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | . | | | 127 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 127 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | RAG2 CL E G H | 5897 | 9832 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | . | | | 50 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | RMRP CL E G H | 6023 | 10031 | ORPHA:39041 | Omenn syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | . | | | 15 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | SLC27A4 CL E G H | 10999 | 10998 | ORPHA:88621 | Ichthyosis-prematurity syndrome | HP:0040281 - Very frequent | | | 26 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | HP:0040283 - Occasional | | | 101 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | | | | 100 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | . | | | 1 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 1 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | TBX21 CL E G H | 30009 | 11599 | OMIM:619630 | IMMUNODEFICIENCY 88; IMD88 | | | | 1 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 82 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040282 - Frequent | | | 3 | | |
HP:0001879 | HP:0031891 | Decreased eosinophil count | 2 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | TRAC CL E G H | 28755 | 12029 | OMIM:615387 | T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY | | | | 1 | | |
HP:0001879 | HP:0031891 | Decreased eosinophil count | 2 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0001879 | HP:0031891 | Decreased eosinophil count | 2 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040283 - Occasional | | | 46 | | |
HP:0001879 | HP:0001880 | Eosinophilia | 2 | ZNF341 CL E G H | 84905 | 15992 | OMIM:618282 | Hyper-Ige recurrent infection syndrome 3, autosomal recessive | HP:0040284 - Very rare | | | 1 | | |
HP:0001879 | HP:0032151 | Episodic eosinophilia | 3 | CL E G H | | | | | | | | | | |
HP:0001879 | HP:0032061 | Hypereosinophilia | 3 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0001879 | HP:0032061 | Hypereosinophilia | 3 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0001879 | HP:0032061 | Hypereosinophilia | 3 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0001879 | HP:0032061 | Hypereosinophilia | 3 | NLRP1 CL E G H | 22861 | 14374 | OMIM:617388 | AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK | | | | 37 | | |
HP:0001879 | HP:0032061 | Hypereosinophilia | 3 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | . | | | 100 | | |
HP:0001879 | HP:0032061 | Hypereosinophilia | 3 | TRAC CL E G H | 28755 | 12029 | OMIM:615387 | T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY | . | | | 1 | | |