Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001875 | HP:0001875 | Neutropenia | 0 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 402 | 68 | 603214 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 509 | 318 | 613228 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 677 | 566 | 603401 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 893 | 568 | 607246 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | ATRX CL E G H | 546 | 231401 | | | | ORPHA | 1 | | 1925 | 886 | 300032 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | BLNK CL E G H | 29760 | 613502 | Agammaglobulinemia 4, autosomal recessive | 613502 | C3150752 | OMIM | 1 | | 296 | 14211 | 604515 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | BTK CL E G H | 695 | 47 | | | | ORPHA | 1 | | 675 | 1133 | 300300 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | CD40 CL E G H | 958 | 606843 | Immunodeficiency with hyper IgM type 3 | 606843 | C1720957 | OMIM | 1 | | 174 | 11919 | 109535 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | CD40LG CL E G H | 959 | 308230 | Immunodeficiency with hyper IgM type 1 | 308230 | C0398689 | OMIM | 1 | | 387 | 11935 | 300386 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | CIITA CL E G H | 4261 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 1388 | 7067 | 600005 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 585 | 30664 | 616254 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | CSF3R CL E G H | 1441 | 617014 | Neutropenia, severe congenital, 7, autosomal recessive | 617014 | C4310764 | OMIM | 1 | | 505 | 2439 | 138971 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | CXCR4 CL E G H | 7852 | 193670 | Warts, hypogammaglobulinemia, infections, and myelokathexis | 193670 | C0472817 | OMIM | 1 | | 154 | 2561 | 162643 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | DNAJC21 CL E G H | 134218 | 811 | Balo disease | | | ORPHA | 1 | | 337 | 27030 | 617048 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | DNAJC21 CL E G H | 134218 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 337 | 27030 | 617048 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | EFL1 CL E G H | 79631 | 811 | Balo disease | | | ORPHA | 1 | | 394 | 25789 | 617538 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | EFL1 CL E G H | 79631 | 617941 | SHWACHMAN-DIAMOND SYNDROME 2 | 617941 | CN244554 | OMIM | 1 | | 394 | 25789 | 617538 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 520 | 3255 | 604032 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | ELANE CL E G H | 1991 | 162800 | Cyclical neutropenia | 162800 | C0221023 | OMIM | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | ELANE CL E G H | 1991 | 2686 | Hing Torack Dowston syndrome | | | ORPHA | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | ELANE CL E G H | 1991 | 202700 | Severe congenital neutropenia autosomal dominant | 202700 | C1859966 | OMIM | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | FANCA CL E G H | 2175 | 227650 | Fanconi anemia, complementation group A | 227650 | C3469521 | OMIM | 1 | | 4396 | 3582 | 607139 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | FANCC CL E G H | 2176 | 227645 | Fanconi anemia, complementation group C | 227645 | C3468041 | OMIM | 1 | | 1743 | 3584 | 613899 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | FANCD2 CL E G H | 2177 | 227646 | Fanconi anemia, complementation group D2 | 227646 | C3160738 | OMIM | 1 | | 1262 | 3585 | 613984 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | FANCE CL E G H | 2178 | 600901 | Fanconi anemia, complementation group E | 600901 | C3160739 | OMIM | 1 | | 527 | 3586 | 613976 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | FANCG CL E G H | 2189 | 614082 | Fanconi anemia, complementation group G | 614082 | C3469527 | OMIM | 1 | | 790 | 3588 | 602956 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | FMO3 CL E G H | 2328 | 602079 | Trimethylaminuria | 602079 | C0342739 | OMIM | 1 | | 133 | 3771 | 136132 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | G6PC3 CL E G H | 92579 | 612541 | Severe congenital neutropenia 4, autosomal recessive | 612541 | C2675526 | OMIM | 1 | | 264 | 24861 | 611045 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | GATA1 CL E G H | 2623 | 300835 | Anemia without thromobocytopenia, X-linked | 300835 | C3151785 | OMIM | 1 | | 413 | 4170 | 305371 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | GATA2 CL E G H | 2624 | 614172 | Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | 614172 | C3280030 | OMIM | 1 | | 1314 | 4171 | 137295 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | GFI1 CL E G H | 2672 | 607847 | Neutropenia, nonimmune chronic idiopathic, of adults | 607847 | C1842930 | OMIM | 1 | | 243 | 4237 | 600871 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | GFI1 CL E G H | 2672 | 613107 | Severe congenital neutropenia 2, autosomal dominant | 613107 | C2751288 | OMIM | 1 | | 243 | 4237 | 600871 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | GINS1 CL E G H | 9837 | 617827 | IMMUNODEFICIENCY 55 | 617827 | CN737162 | OMIM | 1 | | 136 | 28980 | 610608 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | GSS CL E G H | 2937 | 266130 | Gluthathione synthetase deficiency | 266130 | C0398746 | OMIM | 1 | | 211 | 4624 | 601002 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | HAX1 CL E G H | 10456 | 610738 | Severe congenital neutropenia 3, autosomal recessive | 610738 | CN032247 | OMIM | 1 | | 323 | 16915 | 605998 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | HTRA2 CL E G H | 27429 | 617248 | 3-methylglutaconic aciduria, type VIII | 617248 | C4310650 | OMIM | 1 | | 244 | 14348 | 606441 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | IGHM CL E G H | 3507 | 601495 | Agammaglobulinemia, non-Bruton type | 601495 | C1832241 | OMIM | 1 | | 83 | 5541 | 147020 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | IRAK4 CL E G H | 51135 | 70592 | | | | ORPHA | 1 | | 312 | 17967 | 606883 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | JAGN1 CL E G H | 84522 | 616022 | Severe congenital neutropenia 6, autosomal recessive | 616022 | C4014954 | OMIM | 1 | | 178 | 26926 | 616012 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | KRAS CL E G H | 3845 | 614470 | RAS-associated autoimmune leukoproliferative disorder | 614470 | C2674723 | OMIM | 1 | | 480 | 6407 | 190070 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | LAMTOR2 CL E G H | 28956 | 90023 | | | | ORPHA | 1 | | 65 | 29796 | 610389 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | LAMTOR2 CL E G H | 28956 | 610798 | Immunodeficiency due to defect in mapbp-interacting protein | 610798 | C1835829 | OMIM | 1 | | 65 | 29796 | 610389 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | LMBRD1 CL E G H | 55788 | 277380 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE | 277380 | C1848578 | OMIM | 1 | | 276 | 23038 | 612625 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 1 | | 2575 | 1968 | 606897 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | MAD2L2 CL E G H | 10459 | 617243 | Fanconi anemia, complementation group V | 617243 | C4310652 | OMIM | 1 | | 121 | 6764 | 604094 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | MECOM CL E G H | 2122 | 616738 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 616738 | C4225221 | OMIM | 1 | | 260 | 3498 | 165215 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | MMAA CL E G H | 166785 | 251100 | Methylmalonic aciduria cblA type | 251100 | C1855109 | OMIM | 1 | | 483 | 18871 | 607481 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | MMAB CL E G H | 326625 | 251110 | Methylmalonic aciduria cblB type | 251110 | C1855102 | OMIM | 1 | | 461 | 19331 | 607568 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | MSN CL E G H | 4478 | 300988 | Immunodeficiency 50 | 300988 | C4310812 | OMIM | 1 | | 264 | 7373 | 309845 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | NRAS CL E G H | 4893 | 614470 | RAS-associated autoimmune leukoproliferative disorder | 614470 | C2674723 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 1189 | 8653 | 232000 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 971 | 8654 | 232050 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | PGM3 CL E G H | 5238 | 615816 | Immunodeficiency 23 | 615816 | C4014371 | OMIM | 1 | | 359 | 8907 | 172100 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | PIK3R1 CL E G H | 5295 | 615214 | Agammaglobulinemia 7, autosomal recessive | 615214 | C3554689 | OMIM | 1 | | 457 | 8979 | 171833 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | RAB27A CL E G H | 5873 | 79477 | | | | ORPHA | 1 | | 298 | 9766 | 603868 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | RFX5 CL E G H | 5993 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 350 | 9986 | 601863 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | RFXANK CL E G H | 8625 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 241 | 9987 | 603200 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | RFXAP CL E G H | 5994 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 219 | 9988 | 601861 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | RMRP CL E G H | 6023 | 175 | | | | ORPHA | 1 | | 802 | 10031 | 157660 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | RMRP CL E G H | 6023 | 250250 | Metaphyseal chondrodysplasia, McKusick type | 250250 | C0220748 | OMIM | 1 | | 802 | 10031 | 157660 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | RPL11 CL E G H | 6135 | 612562 | Diamond-Blackfan anemia 7 | 612562 | C2675512 | OMIM | 1 | | 154 | 10301 | 604175 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | RPL26 CL E G H | 6154 | 614900 | Diamond-Blackfan anemia 11 | 614900 | C3554042 | OMIM | 1 | | 87 | 10327 | 603704 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | RPS17 CL E G H | 6218 | 612527 | Diamond-Blackfan anemia 4 | 612527 | C2675860 | OMIM | 1 | | 47 | 10397 | 180472 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | RPS19 CL E G H | 6223 | 105650 | Diamond-Blackfan anemia 1 | 105650 | C2676137 | OMIM | 1 | | 214 | 10402 | 603474 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | RPS7 CL E G H | 6201 | 612563 | Diamond-Blackfan anemia 8 | 612563 | C2675511 | OMIM | 1 | | 187 | 10440 | 603658 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | SBDS CL E G H | 51119 | 811 | Balo disease | | | ORPHA | 1 | | 119 | 19440 | 607444 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | SBDS CL E G H | 51119 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 119 | 19440 | 607444 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | SEC61A1 CL E G H | 29927 | 617056 | Hyperuricemic nephropathy, familial juvenile, 4 | 617056 | C4310741 | OMIM | 1 | | 201 | 18276 | 609213 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | SLC35A1 CL E G H | 10559 | 238459 | | | | ORPHA | 1 | | 125 | 11021 | 605634 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | SLC46A1 CL E G H | 113235 | 229050 | Congenital defect of folate absorption | 229050 | C0342705 | OMIM | 1 | | 329 | 30521 | 611672 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | SMARCAL1 CL E G H | 50485 | 242900 | Schimke immunoosseous dysplasia | 242900 | C0877024 | OMIM | 1 | | 942 | 11102 | 606622 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | SRP54 CL E G H | 6729 | 811 | Balo disease | | | ORPHA | 1 | | 204 | 11301 | 604857 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | SRP54 CL E G H | 6729 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 204 | 11301 | 604857 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | STK4 CL E G H | 6789 | 614868 | T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations | 614868 | C3553943 | OMIM | 1 | | 195 | 11408 | 604965 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | TCN2 CL E G H | 6948 | 859 | | | | ORPHA | 1 | | 519 | 11653 | 613441 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | TCN2 CL E G H | 6948 | 275350 | Transcobalamin II deficiency | 275350 | C0342701 | OMIM | 1 | | 519 | 11653 | 613441 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | TFR2 CL E G H | 7036 | 604250 | Hemochromatosis type 3 | 604250 | C1858664 | OMIM | 1 | | 687 | 11762 | 604720 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | TFRC CL E G H | 7037 | 616740 | Immunodeficiency 46 | 616740 | C4225219 | OMIM | 1 | | 502 | 11763 | 190010 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | USB1 CL E G H | 79650 | 604173 | Poikiloderma with neutropenia | 604173 | C1858723 | OMIM | 1 | | 282 | 25792 | 613276 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | VPS13B CL E G H | 157680 | 193 | | | | ORPHA | 1 | | 4876 | 2183 | 607817 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | VPS13B CL E G H | 157680 | 216550 | Cohen syndrome | 216550 | C0265223 | OMIM | 1 | | 4876 | 2183 | 607817 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | VPS45 CL E G H | 11311 | 615285 | Severe congenital neutropenia 5, autosomal recessive | 615285 | C3809031 | OMIM | 1 | | 452 | 14579 | 610035 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | WAS CL E G H | 7454 | 86788 | | | | ORPHA | 1 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | WAS CL E G H | 7454 | 300299 | Severe congenital neutropenia X-linked | 300299 | C1845987 | OMIM | 1 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 402 | 68 | 603214 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 402 | 68 | 603214 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 402 | 68 | 603214 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 402 | 68 | 603214 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 509 | 318 | 613228 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 509 | 318 | 613228 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 509 | 318 | 613228 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 509 | 318 | 613228 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 677 | 566 | 603401 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 677 | 566 | 603401 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 677 | 566 | 603401 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 677 | 566 | 603401 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 893 | 568 | 607246 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 893 | 568 | 607246 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 893 | 568 | 607246 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 893 | 568 | 607246 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | ATRX CL E G H | 546 | 231401 | | | | ORPHA | 1 | | 1925 | 886 | 300032 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | ATRX CL E G H | 546 | 231401 | | | | ORPHA | 1 | | 1925 | 886 | 300032 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | ATRX CL E G H | 546 | 231401 | | | | ORPHA | 1 | | 1925 | 886 | 300032 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | ATRX CL E G H | 546 | 231401 | | | | ORPHA | 1 | | 1925 | 886 | 300032 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | BLNK CL E G H | 29760 | 613502 | Agammaglobulinemia 4, autosomal recessive | 613502 | C3150752 | OMIM | 1 | | 296 | 14211 | 604515 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | BLNK CL E G H | 29760 | 613502 | Agammaglobulinemia 4, autosomal recessive | 613502 | C3150752 | OMIM | 1 | | 296 | 14211 | 604515 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | BLNK CL E G H | 29760 | 613502 | Agammaglobulinemia 4, autosomal recessive | 613502 | C3150752 | OMIM | 1 | | 296 | 14211 | 604515 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | BLNK CL E G H | 29760 | 613502 | Agammaglobulinemia 4, autosomal recessive | 613502 | C3150752 | OMIM | 1 | | 296 | 14211 | 604515 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | BTK CL E G H | 695 | 47 | | | | ORPHA | 1 | | 675 | 1133 | 300300 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | BTK CL E G H | 695 | 47 | | | | ORPHA | 1 | | 675 | 1133 | 300300 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | BTK CL E G H | 695 | 47 | | | | ORPHA | 1 | | 675 | 1133 | 300300 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | BTK CL E G H | 695 | 47 | | | | ORPHA | 1 | | 675 | 1133 | 300300 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | CD40 CL E G H | 958 | 606843 | Immunodeficiency with hyper IgM type 3 | 606843 | C1720957 | OMIM | 1 | | 174 | 11919 | 109535 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | CD40 CL E G H | 958 | 606843 | Immunodeficiency with hyper IgM type 3 | 606843 | C1720957 | OMIM | 1 | | 174 | 11919 | 109535 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | CD40 CL E G H | 958 | 606843 | Immunodeficiency with hyper IgM type 3 | 606843 | C1720957 | OMIM | 1 | | 174 | 11919 | 109535 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | CD40 CL E G H | 958 | 606843 | Immunodeficiency with hyper IgM type 3 | 606843 | C1720957 | OMIM | 1 | | 174 | 11919 | 109535 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | CD40LG CL E G H | 959 | 308230 | Immunodeficiency with hyper IgM type 1 | 308230 | C0398689 | OMIM | 1 | | 387 | 11935 | 300386 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | CD40LG CL E G H | 959 | 308230 | Immunodeficiency with hyper IgM type 1 | 308230 | C0398689 | OMIM | 1 | | 387 | 11935 | 300386 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | CD40LG CL E G H | 959 | 308230 | Immunodeficiency with hyper IgM type 1 | 308230 | C0398689 | OMIM | 1 | | 387 | 11935 | 300386 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | CD40LG CL E G H | 959 | 308230 | Immunodeficiency with hyper IgM type 1 | 308230 | C0398689 | OMIM | 1 | | 387 | 11935 | 300386 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | CIITA CL E G H | 4261 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 1388 | 7067 | 600005 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | CIITA CL E G H | 4261 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 1388 | 7067 | 600005 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | CIITA CL E G H | 4261 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 1388 | 7067 | 600005 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | CIITA CL E G H | 4261 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 1388 | 7067 | 600005 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 585 | 30664 | 616254 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 585 | 30664 | 616254 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 585 | 30664 | 616254 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 585 | 30664 | 616254 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | CSF3R CL E G H | 1441 | 617014 | Neutropenia, severe congenital, 7, autosomal recessive | 617014 | C4310764 | OMIM | 1 | | 505 | 2439 | 138971 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | CSF3R CL E G H | 1441 | 617014 | Neutropenia, severe congenital, 7, autosomal recessive | 617014 | C4310764 | OMIM | 1 | | 505 | 2439 | 138971 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | CSF3R CL E G H | 1441 | 617014 | Neutropenia, severe congenital, 7, autosomal recessive | 617014 | C4310764 | OMIM | 1 | | 505 | 2439 | 138971 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | CSF3R CL E G H | 1441 | 617014 | Neutropenia, severe congenital, 7, autosomal recessive | 617014 | C4310764 | OMIM | 1 | | 505 | 2439 | 138971 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | CXCR4 CL E G H | 7852 | 193670 | Warts, hypogammaglobulinemia, infections, and myelokathexis | 193670 | C0472817 | OMIM | 1 | | 154 | 2561 | 162643 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | CXCR4 CL E G H | 7852 | 193670 | Warts, hypogammaglobulinemia, infections, and myelokathexis | 193670 | C0472817 | OMIM | 1 | | 154 | 2561 | 162643 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | CXCR4 CL E G H | 7852 | 193670 | Warts, hypogammaglobulinemia, infections, and myelokathexis | 193670 | C0472817 | OMIM | 1 | | 154 | 2561 | 162643 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | CXCR4 CL E G H | 7852 | 193670 | Warts, hypogammaglobulinemia, infections, and myelokathexis | 193670 | C0472817 | OMIM | 1 | | 154 | 2561 | 162643 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | DNAJC21 CL E G H | 134218 | 811 | Balo disease | | | ORPHA | 1 | | 337 | 27030 | 617048 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | DNAJC21 CL E G H | 134218 | 811 | Balo disease | | | ORPHA | 1 | | 337 | 27030 | 617048 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | DNAJC21 CL E G H | 134218 | 811 | Balo disease | | | ORPHA | 1 | | 337 | 27030 | 617048 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | DNAJC21 CL E G H | 134218 | 811 | Balo disease | | | ORPHA | 1 | | 337 | 27030 | 617048 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | DNAJC21 CL E G H | 134218 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 337 | 27030 | 617048 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | DNAJC21 CL E G H | 134218 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 337 | 27030 | 617048 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | DNAJC21 CL E G H | 134218 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 337 | 27030 | 617048 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | DNAJC21 CL E G H | 134218 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 337 | 27030 | 617048 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | EFL1 CL E G H | 79631 | 811 | Balo disease | | | ORPHA | 1 | | 394 | 25789 | 617538 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | EFL1 CL E G H | 79631 | 811 | Balo disease | | | ORPHA | 1 | | 394 | 25789 | 617538 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | EFL1 CL E G H | 79631 | 811 | Balo disease | | | ORPHA | 1 | | 394 | 25789 | 617538 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | EFL1 CL E G H | 79631 | 811 | Balo disease | | | ORPHA | 1 | | 394 | 25789 | 617538 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | EFL1 CL E G H | 79631 | 617941 | SHWACHMAN-DIAMOND SYNDROME 2 | 617941 | CN244554 | OMIM | 1 | | 394 | 25789 | 617538 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | EFL1 CL E G H | 79631 | 617941 | SHWACHMAN-DIAMOND SYNDROME 2 | 617941 | CN244554 | OMIM | 1 | | 394 | 25789 | 617538 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | EFL1 CL E G H | 79631 | 617941 | SHWACHMAN-DIAMOND SYNDROME 2 | 617941 | CN244554 | OMIM | 1 | | 394 | 25789 | 617538 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | EFL1 CL E G H | 79631 | 617941 | SHWACHMAN-DIAMOND SYNDROME 2 | 617941 | CN244554 | OMIM | 1 | | 394 | 25789 | 617538 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 520 | 3255 | 604032 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 520 | 3255 | 604032 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 520 | 3255 | 604032 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 520 | 3255 | 604032 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | ELANE CL E G H | 1991 | 162800 | Cyclical neutropenia | 162800 | C0221023 | OMIM | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | ELANE CL E G H | 1991 | 162800 | Cyclical neutropenia | 162800 | C0221023 | OMIM | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | ELANE CL E G H | 1991 | 162800 | Cyclical neutropenia | 162800 | C0221023 | OMIM | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | ELANE CL E G H | 1991 | 162800 | Cyclical neutropenia | 162800 | C0221023 | OMIM | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | ELANE CL E G H | 1991 | 2686 | Hing Torack Dowston syndrome | | | ORPHA | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | ELANE CL E G H | 1991 | 2686 | Hing Torack Dowston syndrome | | | ORPHA | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | ELANE CL E G H | 1991 | 2686 | Hing Torack Dowston syndrome | | | ORPHA | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | ELANE CL E G H | 1991 | 2686 | Hing Torack Dowston syndrome | | | ORPHA | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | ELANE CL E G H | 1991 | 202700 | Severe congenital neutropenia autosomal dominant | 202700 | C1859966 | OMIM | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | ELANE CL E G H | 1991 | 202700 | Severe congenital neutropenia autosomal dominant | 202700 | C1859966 | OMIM | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | ELANE CL E G H | 1991 | 202700 | Severe congenital neutropenia autosomal dominant | 202700 | C1859966 | OMIM | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | ELANE CL E G H | 1991 | 202700 | Severe congenital neutropenia autosomal dominant | 202700 | C1859966 | OMIM | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | FANCA CL E G H | 2175 | 227650 | Fanconi anemia, complementation group A | 227650 | C3469521 | OMIM | 1 | | 4396 | 3582 | 607139 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | FANCA CL E G H | 2175 | 227650 | Fanconi anemia, complementation group A | 227650 | C3469521 | OMIM | 1 | | 4396 | 3582 | 607139 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | FANCA CL E G H | 2175 | 227650 | Fanconi anemia, complementation group A | 227650 | C3469521 | OMIM | 1 | | 4396 | 3582 | 607139 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | FANCA CL E G H | 2175 | 227650 | Fanconi anemia, complementation group A | 227650 | C3469521 | OMIM | 1 | | 4396 | 3582 | 607139 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | FANCC CL E G H | 2176 | 227645 | Fanconi anemia, complementation group C | 227645 | C3468041 | OMIM | 1 | | 1743 | 3584 | 613899 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | FANCC CL E G H | 2176 | 227645 | Fanconi anemia, complementation group C | 227645 | C3468041 | OMIM | 1 | | 1743 | 3584 | 613899 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | FANCC CL E G H | 2176 | 227645 | Fanconi anemia, complementation group C | 227645 | C3468041 | OMIM | 1 | | 1743 | 3584 | 613899 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | FANCC CL E G H | 2176 | 227645 | Fanconi anemia, complementation group C | 227645 | C3468041 | OMIM | 1 | | 1743 | 3584 | 613899 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | FANCD2 CL E G H | 2177 | 227646 | Fanconi anemia, complementation group D2 | 227646 | C3160738 | OMIM | 1 | | 1262 | 3585 | 613984 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | FANCD2 CL E G H | 2177 | 227646 | Fanconi anemia, complementation group D2 | 227646 | C3160738 | OMIM | 1 | | 1262 | 3585 | 613984 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | FANCD2 CL E G H | 2177 | 227646 | Fanconi anemia, complementation group D2 | 227646 | C3160738 | OMIM | 1 | | 1262 | 3585 | 613984 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | FANCD2 CL E G H | 2177 | 227646 | Fanconi anemia, complementation group D2 | 227646 | C3160738 | OMIM | 1 | | 1262 | 3585 | 613984 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | FANCE CL E G H | 2178 | 600901 | Fanconi anemia, complementation group E | 600901 | C3160739 | OMIM | 1 | | 527 | 3586 | 613976 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | FANCE CL E G H | 2178 | 600901 | Fanconi anemia, complementation group E | 600901 | C3160739 | OMIM | 1 | | 527 | 3586 | 613976 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | FANCE CL E G H | 2178 | 600901 | Fanconi anemia, complementation group E | 600901 | C3160739 | OMIM | 1 | | 527 | 3586 | 613976 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | FANCE CL E G H | 2178 | 600901 | Fanconi anemia, complementation group E | 600901 | C3160739 | OMIM | 1 | | 527 | 3586 | 613976 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | FANCG CL E G H | 2189 | 614082 | Fanconi anemia, complementation group G | 614082 | C3469527 | OMIM | 1 | | 790 | 3588 | 602956 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | FANCG CL E G H | 2189 | 614082 | Fanconi anemia, complementation group G | 614082 | C3469527 | OMIM | 1 | | 790 | 3588 | 602956 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | FANCG CL E G H | 2189 | 614082 | Fanconi anemia, complementation group G | 614082 | C3469527 | OMIM | 1 | | 790 | 3588 | 602956 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | FANCG CL E G H | 2189 | 614082 | Fanconi anemia, complementation group G | 614082 | C3469527 | OMIM | 1 | | 790 | 3588 | 602956 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | FMO3 CL E G H | 2328 | 602079 | Trimethylaminuria | 602079 | C0342739 | OMIM | 1 | | 133 | 3771 | 136132 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | FMO3 CL E G H | 2328 | 602079 | Trimethylaminuria | 602079 | C0342739 | OMIM | 1 | | 133 | 3771 | 136132 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | FMO3 CL E G H | 2328 | 602079 | Trimethylaminuria | 602079 | C0342739 | OMIM | 1 | | 133 | 3771 | 136132 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | FMO3 CL E G H | 2328 | 602079 | Trimethylaminuria | 602079 | C0342739 | OMIM | 1 | | 133 | 3771 | 136132 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | G6PC3 CL E G H | 92579 | 612541 | Severe congenital neutropenia 4, autosomal recessive | 612541 | C2675526 | OMIM | 1 | | 264 | 24861 | 611045 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | G6PC3 CL E G H | 92579 | 612541 | Severe congenital neutropenia 4, autosomal recessive | 612541 | C2675526 | OMIM | 1 | | 264 | 24861 | 611045 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | G6PC3 CL E G H | 92579 | 612541 | Severe congenital neutropenia 4, autosomal recessive | 612541 | C2675526 | OMIM | 1 | | 264 | 24861 | 611045 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | G6PC3 CL E G H | 92579 | 612541 | Severe congenital neutropenia 4, autosomal recessive | 612541 | C2675526 | OMIM | 1 | | 264 | 24861 | 611045 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | GATA1 CL E G H | 2623 | 300835 | Anemia without thromobocytopenia, X-linked | 300835 | C3151785 | OMIM | 1 | | 413 | 4170 | 305371 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | GATA1 CL E G H | 2623 | 300835 | Anemia without thromobocytopenia, X-linked | 300835 | C3151785 | OMIM | 1 | | 413 | 4170 | 305371 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | GATA1 CL E G H | 2623 | 300835 | Anemia without thromobocytopenia, X-linked | 300835 | C3151785 | OMIM | 1 | | 413 | 4170 | 305371 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | GATA1 CL E G H | 2623 | 300835 | Anemia without thromobocytopenia, X-linked | 300835 | C3151785 | OMIM | 1 | | 413 | 4170 | 305371 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | GATA2 CL E G H | 2624 | 614172 | Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | 614172 | C3280030 | OMIM | 1 | | 1314 | 4171 | 137295 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | GATA2 CL E G H | 2624 | 614172 | Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | 614172 | C3280030 | OMIM | 1 | | 1314 | 4171 | 137295 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | GATA2 CL E G H | 2624 | 614172 | Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | 614172 | C3280030 | OMIM | 1 | | 1314 | 4171 | 137295 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | GATA2 CL E G H | 2624 | 614172 | Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | 614172 | C3280030 | OMIM | 1 | | 1314 | 4171 | 137295 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | GFI1 CL E G H | 2672 | 607847 | Neutropenia, nonimmune chronic idiopathic, of adults | 607847 | C1842930 | OMIM | 1 | | 243 | 4237 | 600871 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | GFI1 CL E G H | 2672 | 607847 | Neutropenia, nonimmune chronic idiopathic, of adults | 607847 | C1842930 | OMIM | 1 | | 243 | 4237 | 600871 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | GFI1 CL E G H | 2672 | 607847 | Neutropenia, nonimmune chronic idiopathic, of adults | 607847 | C1842930 | OMIM | 1 | | 243 | 4237 | 600871 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | GFI1 CL E G H | 2672 | 607847 | Neutropenia, nonimmune chronic idiopathic, of adults | 607847 | C1842930 | OMIM | 1 | | 243 | 4237 | 600871 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | GFI1 CL E G H | 2672 | 613107 | Severe congenital neutropenia 2, autosomal dominant | 613107 | C2751288 | OMIM | 1 | | 243 | 4237 | 600871 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | GFI1 CL E G H | 2672 | 613107 | Severe congenital neutropenia 2, autosomal dominant | 613107 | C2751288 | OMIM | 1 | | 243 | 4237 | 600871 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | GFI1 CL E G H | 2672 | 613107 | Severe congenital neutropenia 2, autosomal dominant | 613107 | C2751288 | OMIM | 1 | | 243 | 4237 | 600871 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | GFI1 CL E G H | 2672 | 613107 | Severe congenital neutropenia 2, autosomal dominant | 613107 | C2751288 | OMIM | 1 | | 243 | 4237 | 600871 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | GINS1 CL E G H | 9837 | 617827 | IMMUNODEFICIENCY 55 | 617827 | CN737162 | OMIM | 1 | | 136 | 28980 | 610608 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | GINS1 CL E G H | 9837 | 617827 | IMMUNODEFICIENCY 55 | 617827 | CN737162 | OMIM | 1 | | 136 | 28980 | 610608 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | GINS1 CL E G H | 9837 | 617827 | IMMUNODEFICIENCY 55 | 617827 | CN737162 | OMIM | 1 | | 136 | 28980 | 610608 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | GINS1 CL E G H | 9837 | 617827 | IMMUNODEFICIENCY 55 | 617827 | CN737162 | OMIM | 1 | | 136 | 28980 | 610608 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | GSS CL E G H | 2937 | 266130 | Gluthathione synthetase deficiency | 266130 | C0398746 | OMIM | 1 | | 211 | 4624 | 601002 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | GSS CL E G H | 2937 | 266130 | Gluthathione synthetase deficiency | 266130 | C0398746 | OMIM | 1 | | 211 | 4624 | 601002 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | GSS CL E G H | 2937 | 266130 | Gluthathione synthetase deficiency | 266130 | C0398746 | OMIM | 1 | | 211 | 4624 | 601002 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | GSS CL E G H | 2937 | 266130 | Gluthathione synthetase deficiency | 266130 | C0398746 | OMIM | 1 | | 211 | 4624 | 601002 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | HAX1 CL E G H | 10456 | 610738 | Severe congenital neutropenia 3, autosomal recessive | 610738 | CN032247 | OMIM | 1 | | 323 | 16915 | 605998 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | HAX1 CL E G H | 10456 | 610738 | Severe congenital neutropenia 3, autosomal recessive | 610738 | CN032247 | OMIM | 1 | | 323 | 16915 | 605998 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | HAX1 CL E G H | 10456 | 610738 | Severe congenital neutropenia 3, autosomal recessive | 610738 | CN032247 | OMIM | 1 | | 323 | 16915 | 605998 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | HAX1 CL E G H | 10456 | 610738 | Severe congenital neutropenia 3, autosomal recessive | 610738 | CN032247 | OMIM | 1 | | 323 | 16915 | 605998 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | HTRA2 CL E G H | 27429 | 617248 | 3-methylglutaconic aciduria, type VIII | 617248 | C4310650 | OMIM | 1 | | 244 | 14348 | 606441 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | HTRA2 CL E G H | 27429 | 617248 | 3-methylglutaconic aciduria, type VIII | 617248 | C4310650 | OMIM | 1 | | 244 | 14348 | 606441 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | HTRA2 CL E G H | 27429 | 617248 | 3-methylglutaconic aciduria, type VIII | 617248 | C4310650 | OMIM | 1 | | 244 | 14348 | 606441 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | HTRA2 CL E G H | 27429 | 617248 | 3-methylglutaconic aciduria, type VIII | 617248 | C4310650 | OMIM | 1 | | 244 | 14348 | 606441 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | IGHM CL E G H | 3507 | 601495 | Agammaglobulinemia, non-Bruton type | 601495 | C1832241 | OMIM | 1 | | 83 | 5541 | 147020 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | IGHM CL E G H | 3507 | 601495 | Agammaglobulinemia, non-Bruton type | 601495 | C1832241 | OMIM | 1 | | 83 | 5541 | 147020 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | IGHM CL E G H | 3507 | 601495 | Agammaglobulinemia, non-Bruton type | 601495 | C1832241 | OMIM | 1 | | 83 | 5541 | 147020 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | IGHM CL E G H | 3507 | 601495 | Agammaglobulinemia, non-Bruton type | 601495 | C1832241 | OMIM | 1 | | 83 | 5541 | 147020 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | IRAK4 CL E G H | 51135 | 70592 | | | | ORPHA | 1 | | 312 | 17967 | 606883 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | IRAK4 CL E G H | 51135 | 70592 | | | | ORPHA | 1 | | 312 | 17967 | 606883 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | IRAK4 CL E G H | 51135 | 70592 | | | | ORPHA | 1 | | 312 | 17967 | 606883 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | IRAK4 CL E G H | 51135 | 70592 | | | | ORPHA | 1 | | 312 | 17967 | 606883 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | JAGN1 CL E G H | 84522 | 616022 | Severe congenital neutropenia 6, autosomal recessive | 616022 | C4014954 | OMIM | 1 | | 178 | 26926 | 616012 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | JAGN1 CL E G H | 84522 | 616022 | Severe congenital neutropenia 6, autosomal recessive | 616022 | C4014954 | OMIM | 1 | | 178 | 26926 | 616012 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | JAGN1 CL E G H | 84522 | 616022 | Severe congenital neutropenia 6, autosomal recessive | 616022 | C4014954 | OMIM | 1 | | 178 | 26926 | 616012 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | JAGN1 CL E G H | 84522 | 616022 | Severe congenital neutropenia 6, autosomal recessive | 616022 | C4014954 | OMIM | 1 | | 178 | 26926 | 616012 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | KRAS CL E G H | 3845 | 614470 | RAS-associated autoimmune leukoproliferative disorder | 614470 | C2674723 | OMIM | 1 | | 480 | 6407 | 190070 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | KRAS CL E G H | 3845 | 614470 | RAS-associated autoimmune leukoproliferative disorder | 614470 | C2674723 | OMIM | 1 | | 480 | 6407 | 190070 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | KRAS CL E G H | 3845 | 614470 | RAS-associated autoimmune leukoproliferative disorder | 614470 | C2674723 | OMIM | 1 | | 480 | 6407 | 190070 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | KRAS CL E G H | 3845 | 614470 | RAS-associated autoimmune leukoproliferative disorder | 614470 | C2674723 | OMIM | 1 | | 480 | 6407 | 190070 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | LAMTOR2 CL E G H | 28956 | 90023 | | | | ORPHA | 1 | | 65 | 29796 | 610389 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | LAMTOR2 CL E G H | 28956 | 90023 | | | | ORPHA | 1 | | 65 | 29796 | 610389 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | LAMTOR2 CL E G H | 28956 | 90023 | | | | ORPHA | 1 | | 65 | 29796 | 610389 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | LAMTOR2 CL E G H | 28956 | 90023 | | | | ORPHA | 1 | | 65 | 29796 | 610389 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | LAMTOR2 CL E G H | 28956 | 610798 | Immunodeficiency due to defect in mapbp-interacting protein | 610798 | C1835829 | OMIM | 1 | | 65 | 29796 | 610389 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | LAMTOR2 CL E G H | 28956 | 610798 | Immunodeficiency due to defect in mapbp-interacting protein | 610798 | C1835829 | OMIM | 1 | | 65 | 29796 | 610389 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | LAMTOR2 CL E G H | 28956 | 610798 | Immunodeficiency due to defect in mapbp-interacting protein | 610798 | C1835829 | OMIM | 1 | | 65 | 29796 | 610389 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | LAMTOR2 CL E G H | 28956 | 610798 | Immunodeficiency due to defect in mapbp-interacting protein | 610798 | C1835829 | OMIM | 1 | | 65 | 29796 | 610389 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | LMBRD1 CL E G H | 55788 | 277380 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE | 277380 | C1848578 | OMIM | 1 | | 276 | 23038 | 612625 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | LMBRD1 CL E G H | 55788 | 277380 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE | 277380 | C1848578 | OMIM | 1 | | 276 | 23038 | 612625 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | LMBRD1 CL E G H | 55788 | 277380 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE | 277380 | C1848578 | OMIM | 1 | | 276 | 23038 | 612625 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | LMBRD1 CL E G H | 55788 | 277380 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE | 277380 | C1848578 | OMIM | 1 | | 276 | 23038 | 612625 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 1 | | 2575 | 1968 | 606897 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 1 | | 2575 | 1968 | 606897 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 1 | | 2575 | 1968 | 606897 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 1 | | 2575 | 1968 | 606897 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | MAD2L2 CL E G H | 10459 | 617243 | Fanconi anemia, complementation group V | 617243 | C4310652 | OMIM | 1 | | 121 | 6764 | 604094 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | MAD2L2 CL E G H | 10459 | 617243 | Fanconi anemia, complementation group V | 617243 | C4310652 | OMIM | 1 | | 121 | 6764 | 604094 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | MAD2L2 CL E G H | 10459 | 617243 | Fanconi anemia, complementation group V | 617243 | C4310652 | OMIM | 1 | | 121 | 6764 | 604094 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | MAD2L2 CL E G H | 10459 | 617243 | Fanconi anemia, complementation group V | 617243 | C4310652 | OMIM | 1 | | 121 | 6764 | 604094 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | MECOM CL E G H | 2122 | 616738 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 616738 | C4225221 | OMIM | 1 | | 260 | 3498 | 165215 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | MECOM CL E G H | 2122 | 616738 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 616738 | C4225221 | OMIM | 1 | | 260 | 3498 | 165215 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | MECOM CL E G H | 2122 | 616738 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 616738 | C4225221 | OMIM | 1 | | 260 | 3498 | 165215 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | MECOM CL E G H | 2122 | 616738 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 616738 | C4225221 | OMIM | 1 | | 260 | 3498 | 165215 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | MMAA CL E G H | 166785 | 251100 | Methylmalonic aciduria cblA type | 251100 | C1855109 | OMIM | 1 | | 483 | 18871 | 607481 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | MMAA CL E G H | 166785 | 251100 | Methylmalonic aciduria cblA type | 251100 | C1855109 | OMIM | 1 | | 483 | 18871 | 607481 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | MMAA CL E G H | 166785 | 251100 | Methylmalonic aciduria cblA type | 251100 | C1855109 | OMIM | 1 | | 483 | 18871 | 607481 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | MMAA CL E G H | 166785 | 251100 | Methylmalonic aciduria cblA type | 251100 | C1855109 | OMIM | 1 | | 483 | 18871 | 607481 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | MMAB CL E G H | 326625 | 251110 | Methylmalonic aciduria cblB type | 251110 | C1855102 | OMIM | 1 | | 461 | 19331 | 607568 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | MMAB CL E G H | 326625 | 251110 | Methylmalonic aciduria cblB type | 251110 | C1855102 | OMIM | 1 | | 461 | 19331 | 607568 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | MMAB CL E G H | 326625 | 251110 | Methylmalonic aciduria cblB type | 251110 | C1855102 | OMIM | 1 | | 461 | 19331 | 607568 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | MMAB CL E G H | 326625 | 251110 | Methylmalonic aciduria cblB type | 251110 | C1855102 | OMIM | 1 | | 461 | 19331 | 607568 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | MSN CL E G H | 4478 | 300988 | Immunodeficiency 50 | 300988 | C4310812 | OMIM | 1 | | 264 | 7373 | 309845 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | MSN CL E G H | 4478 | 300988 | Immunodeficiency 50 | 300988 | C4310812 | OMIM | 1 | | 264 | 7373 | 309845 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | MSN CL E G H | 4478 | 300988 | Immunodeficiency 50 | 300988 | C4310812 | OMIM | 1 | | 264 | 7373 | 309845 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | MSN CL E G H | 4478 | 300988 | Immunodeficiency 50 | 300988 | C4310812 | OMIM | 1 | | 264 | 7373 | 309845 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | NRAS CL E G H | 4893 | 614470 | RAS-associated autoimmune leukoproliferative disorder | 614470 | C2674723 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | NRAS CL E G H | 4893 | 614470 | RAS-associated autoimmune leukoproliferative disorder | 614470 | C2674723 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | NRAS CL E G H | 4893 | 614470 | RAS-associated autoimmune leukoproliferative disorder | 614470 | C2674723 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | NRAS CL E G H | 4893 | 614470 | RAS-associated autoimmune leukoproliferative disorder | 614470 | C2674723 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 1189 | 8653 | 232000 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 1189 | 8653 | 232000 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 1189 | 8653 | 232000 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 1189 | 8653 | 232000 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 971 | 8654 | 232050 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 971 | 8654 | 232050 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 971 | 8654 | 232050 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 971 | 8654 | 232050 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | PGM3 CL E G H | 5238 | 615816 | Immunodeficiency 23 | 615816 | C4014371 | OMIM | 1 | | 359 | 8907 | 172100 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | PGM3 CL E G H | 5238 | 615816 | Immunodeficiency 23 | 615816 | C4014371 | OMIM | 1 | | 359 | 8907 | 172100 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | PGM3 CL E G H | 5238 | 615816 | Immunodeficiency 23 | 615816 | C4014371 | OMIM | 1 | | 359 | 8907 | 172100 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | PGM3 CL E G H | 5238 | 615816 | Immunodeficiency 23 | 615816 | C4014371 | OMIM | 1 | | 359 | 8907 | 172100 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | PIK3R1 CL E G H | 5295 | 615214 | Agammaglobulinemia 7, autosomal recessive | 615214 | C3554689 | OMIM | 1 | | 457 | 8979 | 171833 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | PIK3R1 CL E G H | 5295 | 615214 | Agammaglobulinemia 7, autosomal recessive | 615214 | C3554689 | OMIM | 1 | | 457 | 8979 | 171833 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | PIK3R1 CL E G H | 5295 | 615214 | Agammaglobulinemia 7, autosomal recessive | 615214 | C3554689 | OMIM | 1 | | 457 | 8979 | 171833 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | PIK3R1 CL E G H | 5295 | 615214 | Agammaglobulinemia 7, autosomal recessive | 615214 | C3554689 | OMIM | 1 | | 457 | 8979 | 171833 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | RAB27A CL E G H | 5873 | 79477 | | | | ORPHA | 1 | | 298 | 9766 | 603868 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | RAB27A CL E G H | 5873 | 79477 | | | | ORPHA | 1 | | 298 | 9766 | 603868 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | RAB27A CL E G H | 5873 | 79477 | | | | ORPHA | 1 | | 298 | 9766 | 603868 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | RAB27A CL E G H | 5873 | 79477 | | | | ORPHA | 1 | | 298 | 9766 | 603868 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | RFX5 CL E G H | 5993 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 350 | 9986 | 601863 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | RFX5 CL E G H | 5993 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 350 | 9986 | 601863 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | RFX5 CL E G H | 5993 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 350 | 9986 | 601863 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | RFX5 CL E G H | 5993 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 350 | 9986 | 601863 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | RFXANK CL E G H | 8625 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 241 | 9987 | 603200 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | RFXANK CL E G H | 8625 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 241 | 9987 | 603200 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | RFXANK CL E G H | 8625 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 241 | 9987 | 603200 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | RFXANK CL E G H | 8625 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 241 | 9987 | 603200 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | RFXAP CL E G H | 5994 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 219 | 9988 | 601861 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | RFXAP CL E G H | 5994 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 219 | 9988 | 601861 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | RFXAP CL E G H | 5994 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 219 | 9988 | 601861 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | RFXAP CL E G H | 5994 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 219 | 9988 | 601861 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | RMRP CL E G H | 6023 | 175 | | | | ORPHA | 1 | | 802 | 10031 | 157660 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | RMRP CL E G H | 6023 | 175 | | | | ORPHA | 1 | | 802 | 10031 | 157660 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | RMRP CL E G H | 6023 | 175 | | | | ORPHA | 1 | | 802 | 10031 | 157660 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | RMRP CL E G H | 6023 | 175 | | | | ORPHA | 1 | | 802 | 10031 | 157660 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | RMRP CL E G H | 6023 | 250250 | Metaphyseal chondrodysplasia, McKusick type | 250250 | C0220748 | OMIM | 1 | | 802 | 10031 | 157660 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | RMRP CL E G H | 6023 | 250250 | Metaphyseal chondrodysplasia, McKusick type | 250250 | C0220748 | OMIM | 1 | | 802 | 10031 | 157660 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | RMRP CL E G H | 6023 | 250250 | Metaphyseal chondrodysplasia, McKusick type | 250250 | C0220748 | OMIM | 1 | | 802 | 10031 | 157660 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | RMRP CL E G H | 6023 | 250250 | Metaphyseal chondrodysplasia, McKusick type | 250250 | C0220748 | OMIM | 1 | | 802 | 10031 | 157660 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | RPL11 CL E G H | 6135 | 612562 | Diamond-Blackfan anemia 7 | 612562 | C2675512 | OMIM | 1 | | 154 | 10301 | 604175 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | RPL11 CL E G H | 6135 | 612562 | Diamond-Blackfan anemia 7 | 612562 | C2675512 | OMIM | 1 | | 154 | 10301 | 604175 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | RPL11 CL E G H | 6135 | 612562 | Diamond-Blackfan anemia 7 | 612562 | C2675512 | OMIM | 1 | | 154 | 10301 | 604175 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | RPL11 CL E G H | 6135 | 612562 | Diamond-Blackfan anemia 7 | 612562 | C2675512 | OMIM | 1 | | 154 | 10301 | 604175 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | RPL26 CL E G H | 6154 | 614900 | Diamond-Blackfan anemia 11 | 614900 | C3554042 | OMIM | 1 | | 87 | 10327 | 603704 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | RPL26 CL E G H | 6154 | 614900 | Diamond-Blackfan anemia 11 | 614900 | C3554042 | OMIM | 1 | | 87 | 10327 | 603704 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | RPL26 CL E G H | 6154 | 614900 | Diamond-Blackfan anemia 11 | 614900 | C3554042 | OMIM | 1 | | 87 | 10327 | 603704 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | RPL26 CL E G H | 6154 | 614900 | Diamond-Blackfan anemia 11 | 614900 | C3554042 | OMIM | 1 | | 87 | 10327 | 603704 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | RPS17 CL E G H | 6218 | 612527 | Diamond-Blackfan anemia 4 | 612527 | C2675860 | OMIM | 1 | | 47 | 10397 | 180472 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | RPS17 CL E G H | 6218 | 612527 | Diamond-Blackfan anemia 4 | 612527 | C2675860 | OMIM | 1 | | 47 | 10397 | 180472 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | RPS17 CL E G H | 6218 | 612527 | Diamond-Blackfan anemia 4 | 612527 | C2675860 | OMIM | 1 | | 47 | 10397 | 180472 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | RPS17 CL E G H | 6218 | 612527 | Diamond-Blackfan anemia 4 | 612527 | C2675860 | OMIM | 1 | | 47 | 10397 | 180472 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | RPS19 CL E G H | 6223 | 105650 | Diamond-Blackfan anemia 1 | 105650 | C2676137 | OMIM | 1 | | 214 | 10402 | 603474 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | RPS19 CL E G H | 6223 | 105650 | Diamond-Blackfan anemia 1 | 105650 | C2676137 | OMIM | 1 | | 214 | 10402 | 603474 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | RPS19 CL E G H | 6223 | 105650 | Diamond-Blackfan anemia 1 | 105650 | C2676137 | OMIM | 1 | | 214 | 10402 | 603474 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | RPS19 CL E G H | 6223 | 105650 | Diamond-Blackfan anemia 1 | 105650 | C2676137 | OMIM | 1 | | 214 | 10402 | 603474 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | RPS7 CL E G H | 6201 | 612563 | Diamond-Blackfan anemia 8 | 612563 | C2675511 | OMIM | 1 | | 187 | 10440 | 603658 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | RPS7 CL E G H | 6201 | 612563 | Diamond-Blackfan anemia 8 | 612563 | C2675511 | OMIM | 1 | | 187 | 10440 | 603658 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | RPS7 CL E G H | 6201 | 612563 | Diamond-Blackfan anemia 8 | 612563 | C2675511 | OMIM | 1 | | 187 | 10440 | 603658 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | RPS7 CL E G H | 6201 | 612563 | Diamond-Blackfan anemia 8 | 612563 | C2675511 | OMIM | 1 | | 187 | 10440 | 603658 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | SBDS CL E G H | 51119 | 811 | Balo disease | | | ORPHA | 1 | | 119 | 19440 | 607444 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | SBDS CL E G H | 51119 | 811 | Balo disease | | | ORPHA | 1 | | 119 | 19440 | 607444 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | SBDS CL E G H | 51119 | 811 | Balo disease | | | ORPHA | 1 | | 119 | 19440 | 607444 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | SBDS CL E G H | 51119 | 811 | Balo disease | | | ORPHA | 1 | | 119 | 19440 | 607444 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | SBDS CL E G H | 51119 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 119 | 19440 | 607444 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | SBDS CL E G H | 51119 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 119 | 19440 | 607444 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | SBDS CL E G H | 51119 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 119 | 19440 | 607444 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | SBDS CL E G H | 51119 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 119 | 19440 | 607444 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | SEC61A1 CL E G H | 29927 | 617056 | Hyperuricemic nephropathy, familial juvenile, 4 | 617056 | C4310741 | OMIM | 1 | | 201 | 18276 | 609213 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | SEC61A1 CL E G H | 29927 | 617056 | Hyperuricemic nephropathy, familial juvenile, 4 | 617056 | C4310741 | OMIM | 1 | | 201 | 18276 | 609213 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | SEC61A1 CL E G H | 29927 | 617056 | Hyperuricemic nephropathy, familial juvenile, 4 | 617056 | C4310741 | OMIM | 1 | | 201 | 18276 | 609213 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | SEC61A1 CL E G H | 29927 | 617056 | Hyperuricemic nephropathy, familial juvenile, 4 | 617056 | C4310741 | OMIM | 1 | | 201 | 18276 | 609213 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | SLC35A1 CL E G H | 10559 | 238459 | | | | ORPHA | 1 | | 125 | 11021 | 605634 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | SLC35A1 CL E G H | 10559 | 238459 | | | | ORPHA | 1 | | 125 | 11021 | 605634 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | SLC35A1 CL E G H | 10559 | 238459 | | | | ORPHA | 1 | | 125 | 11021 | 605634 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | SLC35A1 CL E G H | 10559 | 238459 | | | | ORPHA | 1 | | 125 | 11021 | 605634 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | SLC46A1 CL E G H | 113235 | 229050 | Congenital defect of folate absorption | 229050 | C0342705 | OMIM | 1 | | 329 | 30521 | 611672 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | SLC46A1 CL E G H | 113235 | 229050 | Congenital defect of folate absorption | 229050 | C0342705 | OMIM | 1 | | 329 | 30521 | 611672 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | SLC46A1 CL E G H | 113235 | 229050 | Congenital defect of folate absorption | 229050 | C0342705 | OMIM | 1 | | 329 | 30521 | 611672 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | SLC46A1 CL E G H | 113235 | 229050 | Congenital defect of folate absorption | 229050 | C0342705 | OMIM | 1 | | 329 | 30521 | 611672 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | SMARCAL1 CL E G H | 50485 | 242900 | Schimke immunoosseous dysplasia | 242900 | C0877024 | OMIM | 1 | | 942 | 11102 | 606622 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | SMARCAL1 CL E G H | 50485 | 242900 | Schimke immunoosseous dysplasia | 242900 | C0877024 | OMIM | 1 | | 942 | 11102 | 606622 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | SMARCAL1 CL E G H | 50485 | 242900 | Schimke immunoosseous dysplasia | 242900 | C0877024 | OMIM | 1 | | 942 | 11102 | 606622 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | SMARCAL1 CL E G H | 50485 | 242900 | Schimke immunoosseous dysplasia | 242900 | C0877024 | OMIM | 1 | | 942 | 11102 | 606622 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | SRP54 CL E G H | 6729 | 811 | Balo disease | | | ORPHA | 1 | | 204 | 11301 | 604857 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | SRP54 CL E G H | 6729 | 811 | Balo disease | | | ORPHA | 1 | | 204 | 11301 | 604857 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | SRP54 CL E G H | 6729 | 811 | Balo disease | | | ORPHA | 1 | | 204 | 11301 | 604857 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | SRP54 CL E G H | 6729 | 811 | Balo disease | | | ORPHA | 1 | | 204 | 11301 | 604857 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | SRP54 CL E G H | 6729 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 204 | 11301 | 604857 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | SRP54 CL E G H | 6729 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 204 | 11301 | 604857 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | SRP54 CL E G H | 6729 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 204 | 11301 | 604857 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | SRP54 CL E G H | 6729 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 204 | 11301 | 604857 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | STK4 CL E G H | 6789 | 614868 | T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations | 614868 | C3553943 | OMIM | 1 | | 195 | 11408 | 604965 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | STK4 CL E G H | 6789 | 614868 | T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations | 614868 | C3553943 | OMIM | 1 | | 195 | 11408 | 604965 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | STK4 CL E G H | 6789 | 614868 | T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations | 614868 | C3553943 | OMIM | 1 | | 195 | 11408 | 604965 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | STK4 CL E G H | 6789 | 614868 | T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations | 614868 | C3553943 | OMIM | 1 | | 195 | 11408 | 604965 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | TCN2 CL E G H | 6948 | 859 | | | | ORPHA | 1 | | 519 | 11653 | 613441 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | TCN2 CL E G H | 6948 | 859 | | | | ORPHA | 1 | | 519 | 11653 | 613441 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | TCN2 CL E G H | 6948 | 859 | | | | ORPHA | 1 | | 519 | 11653 | 613441 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | TCN2 CL E G H | 6948 | 859 | | | | ORPHA | 1 | | 519 | 11653 | 613441 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | TCN2 CL E G H | 6948 | 275350 | Transcobalamin II deficiency | 275350 | C0342701 | OMIM | 1 | | 519 | 11653 | 613441 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | TCN2 CL E G H | 6948 | 275350 | Transcobalamin II deficiency | 275350 | C0342701 | OMIM | 1 | | 519 | 11653 | 613441 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | TCN2 CL E G H | 6948 | 275350 | Transcobalamin II deficiency | 275350 | C0342701 | OMIM | 1 | | 519 | 11653 | 613441 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | TCN2 CL E G H | 6948 | 275350 | Transcobalamin II deficiency | 275350 | C0342701 | OMIM | 1 | | 519 | 11653 | 613441 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | TFR2 CL E G H | 7036 | 604250 | Hemochromatosis type 3 | 604250 | C1858664 | OMIM | 1 | | 687 | 11762 | 604720 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | TFR2 CL E G H | 7036 | 604250 | Hemochromatosis type 3 | 604250 | C1858664 | OMIM | 1 | | 687 | 11762 | 604720 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | TFR2 CL E G H | 7036 | 604250 | Hemochromatosis type 3 | 604250 | C1858664 | OMIM | 1 | | 687 | 11762 | 604720 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | TFR2 CL E G H | 7036 | 604250 | Hemochromatosis type 3 | 604250 | C1858664 | OMIM | 1 | | 687 | 11762 | 604720 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | TFRC CL E G H | 7037 | 616740 | Immunodeficiency 46 | 616740 | C4225219 | OMIM | 1 | | 502 | 11763 | 190010 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | TFRC CL E G H | 7037 | 616740 | Immunodeficiency 46 | 616740 | C4225219 | OMIM | 1 | | 502 | 11763 | 190010 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | TFRC CL E G H | 7037 | 616740 | Immunodeficiency 46 | 616740 | C4225219 | OMIM | 1 | | 502 | 11763 | 190010 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | TFRC CL E G H | 7037 | 616740 | Immunodeficiency 46 | 616740 | C4225219 | OMIM | 1 | | 502 | 11763 | 190010 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | USB1 CL E G H | 79650 | 604173 | Poikiloderma with neutropenia | 604173 | C1858723 | OMIM | 1 | | 282 | 25792 | 613276 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | USB1 CL E G H | 79650 | 604173 | Poikiloderma with neutropenia | 604173 | C1858723 | OMIM | 1 | | 282 | 25792 | 613276 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | USB1 CL E G H | 79650 | 604173 | Poikiloderma with neutropenia | 604173 | C1858723 | OMIM | 1 | | 282 | 25792 | 613276 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | USB1 CL E G H | 79650 | 604173 | Poikiloderma with neutropenia | 604173 | C1858723 | OMIM | 1 | | 282 | 25792 | 613276 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | VPS13B CL E G H | 157680 | 193 | | | | ORPHA | 1 | | 4876 | 2183 | 607817 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | VPS13B CL E G H | 157680 | 193 | | | | ORPHA | 1 | | 4876 | 2183 | 607817 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | VPS13B CL E G H | 157680 | 193 | | | | ORPHA | 1 | | 4876 | 2183 | 607817 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | VPS13B CL E G H | 157680 | 193 | | | | ORPHA | 1 | | 4876 | 2183 | 607817 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | VPS13B CL E G H | 157680 | 216550 | Cohen syndrome | 216550 | C0265223 | OMIM | 1 | | 4876 | 2183 | 607817 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | VPS13B CL E G H | 157680 | 216550 | Cohen syndrome | 216550 | C0265223 | OMIM | 1 | | 4876 | 2183 | 607817 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | VPS13B CL E G H | 157680 | 216550 | Cohen syndrome | 216550 | C0265223 | OMIM | 1 | | 4876 | 2183 | 607817 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | VPS13B CL E G H | 157680 | 216550 | Cohen syndrome | 216550 | C0265223 | OMIM | 1 | | 4876 | 2183 | 607817 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | VPS45 CL E G H | 11311 | 615285 | Severe congenital neutropenia 5, autosomal recessive | 615285 | C3809031 | OMIM | 1 | | 452 | 14579 | 610035 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | VPS45 CL E G H | 11311 | 615285 | Severe congenital neutropenia 5, autosomal recessive | 615285 | C3809031 | OMIM | 1 | | 452 | 14579 | 610035 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | VPS45 CL E G H | 11311 | 615285 | Severe congenital neutropenia 5, autosomal recessive | 615285 | C3809031 | OMIM | 1 | | 452 | 14579 | 610035 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | VPS45 CL E G H | 11311 | 615285 | Severe congenital neutropenia 5, autosomal recessive | 615285 | C3809031 | OMIM | 1 | | 452 | 14579 | 610035 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | WAS CL E G H | 7454 | 86788 | | | | ORPHA | 1 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | WAS CL E G H | 7454 | 86788 | | | | ORPHA | 1 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | WAS CL E G H | 7454 | 86788 | | | | ORPHA | 1 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | WAS CL E G H | 7454 | 86788 | | | | ORPHA | 1 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | WAS CL E G H | 7454 | 300299 | Severe congenital neutropenia X-linked | 300299 | C1845987 | OMIM | 1 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | WAS CL E G H | 7454 | 300299 | Severe congenital neutropenia X-linked | 300299 | C1845987 | OMIM | 1 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | WAS CL E G H | 7454 | 300299 | Severe congenital neutropenia X-linked | 300299 | C1845987 | OMIM | 1 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | WAS CL E G H | 7454 | 300299 | Severe congenital neutropenia X-linked | 300299 | C1845987 | OMIM | 1 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 402 | 68 | 603214 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | ABCD4 CL E G H | 5826 | 614857 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE | 614857 | C3553915 | OMIM | 1 | | 402 | 68 | 603214 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 509 | 318 | 613228 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 509 | 318 | 613228 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 677 | 566 | 603401 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | AP3B1 CL E G H | 8546 | 608233 | Hermansky Pudlak syndrome 2 | 608233 | C1842362 | OMIM | 1 | | 677 | 566 | 603401 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 893 | 568 | 607246 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 893 | 568 | 607246 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | ATRX CL E G H | 546 | 231401 | | | | ORPHA | 1 | | 1925 | 886 | 300032 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | ATRX CL E G H | 546 | 231401 | | | | ORPHA | 1 | | 1925 | 886 | 300032 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | BLNK CL E G H | 29760 | 613502 | Agammaglobulinemia 4, autosomal recessive | 613502 | C3150752 | OMIM | 1 | | 296 | 14211 | 604515 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | BLNK CL E G H | 29760 | 613502 | Agammaglobulinemia 4, autosomal recessive | 613502 | C3150752 | OMIM | 1 | | 296 | 14211 | 604515 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | BTK CL E G H | 695 | 47 | | | | ORPHA | 1 | | 675 | 1133 | 300300 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | BTK CL E G H | 695 | 47 | | | | ORPHA | 1 | | 675 | 1133 | 300300 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | CD40 CL E G H | 958 | 606843 | Immunodeficiency with hyper IgM type 3 | 606843 | C1720957 | OMIM | 1 | | 174 | 11919 | 109535 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | CD40 CL E G H | 958 | 606843 | Immunodeficiency with hyper IgM type 3 | 606843 | C1720957 | OMIM | 1 | | 174 | 11919 | 109535 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | CD40LG CL E G H | 959 | 308230 | Immunodeficiency with hyper IgM type 1 | 308230 | C0398689 | OMIM | 1 | | 387 | 11935 | 300386 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | CD40LG CL E G H | 959 | 308230 | Immunodeficiency with hyper IgM type 1 | 308230 | C0398689 | OMIM | 1 | | 387 | 11935 | 300386 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | CIITA CL E G H | 4261 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 1388 | 7067 | 600005 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | CIITA CL E G H | 4261 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 1388 | 7067 | 600005 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 585 | 30664 | 616254 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | CLPB CL E G H | 81570 | 616271 | 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 616271 | C4225393 | OMIM | 1 | | 585 | 30664 | 616254 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | CSF3R CL E G H | 1441 | 617014 | Neutropenia, severe congenital, 7, autosomal recessive | 617014 | C4310764 | OMIM | 1 | | 505 | 2439 | 138971 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | CSF3R CL E G H | 1441 | 617014 | Neutropenia, severe congenital, 7, autosomal recessive | 617014 | C4310764 | OMIM | 1 | | 505 | 2439 | 138971 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | CXCR4 CL E G H | 7852 | 193670 | Warts, hypogammaglobulinemia, infections, and myelokathexis | 193670 | C0472817 | OMIM | 1 | | 154 | 2561 | 162643 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | CXCR4 CL E G H | 7852 | 193670 | Warts, hypogammaglobulinemia, infections, and myelokathexis | 193670 | C0472817 | OMIM | 1 | | 154 | 2561 | 162643 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | DNAJC21 CL E G H | 134218 | 811 | Balo disease | | | ORPHA | 1 | | 337 | 27030 | 617048 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | DNAJC21 CL E G H | 134218 | 811 | Balo disease | | | ORPHA | 1 | | 337 | 27030 | 617048 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | DNAJC21 CL E G H | 134218 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 337 | 27030 | 617048 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | DNAJC21 CL E G H | 134218 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 337 | 27030 | 617048 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | EFL1 CL E G H | 79631 | 811 | Balo disease | | | ORPHA | 1 | | 394 | 25789 | 617538 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | EFL1 CL E G H | 79631 | 811 | Balo disease | | | ORPHA | 1 | | 394 | 25789 | 617538 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | EFL1 CL E G H | 79631 | 617941 | SHWACHMAN-DIAMOND SYNDROME 2 | 617941 | CN244554 | OMIM | 1 | | 394 | 25789 | 617538 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | EFL1 CL E G H | 79631 | 617941 | SHWACHMAN-DIAMOND SYNDROME 2 | 617941 | CN244554 | OMIM | 1 | | 394 | 25789 | 617538 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 520 | 3255 | 604032 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 520 | 3255 | 604032 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | ELANE CL E G H | 1991 | 162800 | Cyclical neutropenia | 162800 | C0221023 | OMIM | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | ELANE CL E G H | 1991 | 162800 | Cyclical neutropenia | 162800 | C0221023 | OMIM | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | ELANE CL E G H | 1991 | 2686 | Hing Torack Dowston syndrome | | | ORPHA | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | ELANE CL E G H | 1991 | 2686 | Hing Torack Dowston syndrome | | | ORPHA | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | ELANE CL E G H | 1991 | 202700 | Severe congenital neutropenia autosomal dominant | 202700 | C1859966 | OMIM | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | ELANE CL E G H | 1991 | 202700 | Severe congenital neutropenia autosomal dominant | 202700 | C1859966 | OMIM | 1 | | 512 | 3309 | 130130 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | FANCA CL E G H | 2175 | 227650 | Fanconi anemia, complementation group A | 227650 | C3469521 | OMIM | 1 | | 4396 | 3582 | 607139 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | FANCA CL E G H | 2175 | 227650 | Fanconi anemia, complementation group A | 227650 | C3469521 | OMIM | 1 | | 4396 | 3582 | 607139 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | FANCC CL E G H | 2176 | 227645 | Fanconi anemia, complementation group C | 227645 | C3468041 | OMIM | 1 | | 1743 | 3584 | 613899 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | FANCC CL E G H | 2176 | 227645 | Fanconi anemia, complementation group C | 227645 | C3468041 | OMIM | 1 | | 1743 | 3584 | 613899 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | FANCD2 CL E G H | 2177 | 227646 | Fanconi anemia, complementation group D2 | 227646 | C3160738 | OMIM | 1 | | 1262 | 3585 | 613984 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | FANCD2 CL E G H | 2177 | 227646 | Fanconi anemia, complementation group D2 | 227646 | C3160738 | OMIM | 1 | | 1262 | 3585 | 613984 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | FANCE CL E G H | 2178 | 600901 | Fanconi anemia, complementation group E | 600901 | C3160739 | OMIM | 1 | | 527 | 3586 | 613976 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | FANCE CL E G H | 2178 | 600901 | Fanconi anemia, complementation group E | 600901 | C3160739 | OMIM | 1 | | 527 | 3586 | 613976 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | FANCG CL E G H | 2189 | 614082 | Fanconi anemia, complementation group G | 614082 | C3469527 | OMIM | 1 | | 790 | 3588 | 602956 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | FANCG CL E G H | 2189 | 614082 | Fanconi anemia, complementation group G | 614082 | C3469527 | OMIM | 1 | | 790 | 3588 | 602956 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | FMO3 CL E G H | 2328 | 602079 | Trimethylaminuria | 602079 | C0342739 | OMIM | 1 | | 133 | 3771 | 136132 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | FMO3 CL E G H | 2328 | 602079 | Trimethylaminuria | 602079 | C0342739 | OMIM | 1 | | 133 | 3771 | 136132 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | G6PC3 CL E G H | 92579 | 612541 | Severe congenital neutropenia 4, autosomal recessive | 612541 | C2675526 | OMIM | 1 | | 264 | 24861 | 611045 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | G6PC3 CL E G H | 92579 | 612541 | Severe congenital neutropenia 4, autosomal recessive | 612541 | C2675526 | OMIM | 1 | | 264 | 24861 | 611045 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | GATA1 CL E G H | 2623 | 300835 | Anemia without thromobocytopenia, X-linked | 300835 | C3151785 | OMIM | 1 | | 413 | 4170 | 305371 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | GATA1 CL E G H | 2623 | 300835 | Anemia without thromobocytopenia, X-linked | 300835 | C3151785 | OMIM | 1 | | 413 | 4170 | 305371 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | GATA2 CL E G H | 2624 | 614172 | Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | 614172 | C3280030 | OMIM | 1 | | 1314 | 4171 | 137295 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | GATA2 CL E G H | 2624 | 614172 | Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | 614172 | C3280030 | OMIM | 1 | | 1314 | 4171 | 137295 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | GFI1 CL E G H | 2672 | 607847 | Neutropenia, nonimmune chronic idiopathic, of adults | 607847 | C1842930 | OMIM | 1 | | 243 | 4237 | 600871 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | GFI1 CL E G H | 2672 | 607847 | Neutropenia, nonimmune chronic idiopathic, of adults | 607847 | C1842930 | OMIM | 1 | | 243 | 4237 | 600871 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | GFI1 CL E G H | 2672 | 613107 | Severe congenital neutropenia 2, autosomal dominant | 613107 | C2751288 | OMIM | 1 | | 243 | 4237 | 600871 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | GFI1 CL E G H | 2672 | 613107 | Severe congenital neutropenia 2, autosomal dominant | 613107 | C2751288 | OMIM | 1 | | 243 | 4237 | 600871 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | GINS1 CL E G H | 9837 | 617827 | IMMUNODEFICIENCY 55 | 617827 | CN737162 | OMIM | 1 | | 136 | 28980 | 610608 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | GINS1 CL E G H | 9837 | 617827 | IMMUNODEFICIENCY 55 | 617827 | CN737162 | OMIM | 1 | | 136 | 28980 | 610608 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | GSS CL E G H | 2937 | 266130 | Gluthathione synthetase deficiency | 266130 | C0398746 | OMIM | 1 | | 211 | 4624 | 601002 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | GSS CL E G H | 2937 | 266130 | Gluthathione synthetase deficiency | 266130 | C0398746 | OMIM | 1 | | 211 | 4624 | 601002 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | HAX1 CL E G H | 10456 | 610738 | Severe congenital neutropenia 3, autosomal recessive | 610738 | CN032247 | OMIM | 1 | | 323 | 16915 | 605998 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | HAX1 CL E G H | 10456 | 610738 | Severe congenital neutropenia 3, autosomal recessive | 610738 | CN032247 | OMIM | 1 | | 323 | 16915 | 605998 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | HTRA2 CL E G H | 27429 | 617248 | 3-methylglutaconic aciduria, type VIII | 617248 | C4310650 | OMIM | 1 | | 244 | 14348 | 606441 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | HTRA2 CL E G H | 27429 | 617248 | 3-methylglutaconic aciduria, type VIII | 617248 | C4310650 | OMIM | 1 | | 244 | 14348 | 606441 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | IGHM CL E G H | 3507 | 601495 | Agammaglobulinemia, non-Bruton type | 601495 | C1832241 | OMIM | 1 | | 83 | 5541 | 147020 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | IGHM CL E G H | 3507 | 601495 | Agammaglobulinemia, non-Bruton type | 601495 | C1832241 | OMIM | 1 | | 83 | 5541 | 147020 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | IRAK4 CL E G H | 51135 | 70592 | | | | ORPHA | 1 | | 312 | 17967 | 606883 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | IRAK4 CL E G H | 51135 | 70592 | | | | ORPHA | 1 | | 312 | 17967 | 606883 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | JAGN1 CL E G H | 84522 | 616022 | Severe congenital neutropenia 6, autosomal recessive | 616022 | C4014954 | OMIM | 1 | | 178 | 26926 | 616012 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | JAGN1 CL E G H | 84522 | 616022 | Severe congenital neutropenia 6, autosomal recessive | 616022 | C4014954 | OMIM | 1 | | 178 | 26926 | 616012 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | KRAS CL E G H | 3845 | 614470 | RAS-associated autoimmune leukoproliferative disorder | 614470 | C2674723 | OMIM | 1 | | 480 | 6407 | 190070 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | KRAS CL E G H | 3845 | 614470 | RAS-associated autoimmune leukoproliferative disorder | 614470 | C2674723 | OMIM | 1 | | 480 | 6407 | 190070 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | LAMTOR2 CL E G H | 28956 | 90023 | | | | ORPHA | 1 | | 65 | 29796 | 610389 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | LAMTOR2 CL E G H | 28956 | 90023 | | | | ORPHA | 1 | | 65 | 29796 | 610389 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | LAMTOR2 CL E G H | 28956 | 610798 | Immunodeficiency due to defect in mapbp-interacting protein | 610798 | C1835829 | OMIM | 1 | | 65 | 29796 | 610389 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | LAMTOR2 CL E G H | 28956 | 610798 | Immunodeficiency due to defect in mapbp-interacting protein | 610798 | C1835829 | OMIM | 1 | | 65 | 29796 | 610389 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | LMBRD1 CL E G H | 55788 | 277380 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE | 277380 | C1848578 | OMIM | 1 | | 276 | 23038 | 612625 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | LMBRD1 CL E G H | 55788 | 277380 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE | 277380 | C1848578 | OMIM | 1 | | 276 | 23038 | 612625 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 1 | | 2575 | 1968 | 606897 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | LYST CL E G H | 1130 | 167 | | | | ORPHA | 1 | | 2575 | 1968 | 606897 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | MAD2L2 CL E G H | 10459 | 617243 | Fanconi anemia, complementation group V | 617243 | C4310652 | OMIM | 1 | | 121 | 6764 | 604094 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | MAD2L2 CL E G H | 10459 | 617243 | Fanconi anemia, complementation group V | 617243 | C4310652 | OMIM | 1 | | 121 | 6764 | 604094 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | MECOM CL E G H | 2122 | 616738 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 616738 | C4225221 | OMIM | 1 | | 260 | 3498 | 165215 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | MECOM CL E G H | 2122 | 616738 | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 616738 | C4225221 | OMIM | 1 | | 260 | 3498 | 165215 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | MMAA CL E G H | 166785 | 251100 | Methylmalonic aciduria cblA type | 251100 | C1855109 | OMIM | 1 | | 483 | 18871 | 607481 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | MMAA CL E G H | 166785 | 251100 | Methylmalonic aciduria cblA type | 251100 | C1855109 | OMIM | 1 | | 483 | 18871 | 607481 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | MMAB CL E G H | 326625 | 251110 | Methylmalonic aciduria cblB type | 251110 | C1855102 | OMIM | 1 | | 461 | 19331 | 607568 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | MMAB CL E G H | 326625 | 251110 | Methylmalonic aciduria cblB type | 251110 | C1855102 | OMIM | 1 | | 461 | 19331 | 607568 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 524 | 24525 | 609831 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | MSN CL E G H | 4478 | 300988 | Immunodeficiency 50 | 300988 | C4310812 | OMIM | 1 | | 264 | 7373 | 309845 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | MSN CL E G H | 4478 | 300988 | Immunodeficiency 50 | 300988 | C4310812 | OMIM | 1 | | 264 | 7373 | 309845 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | NRAS CL E G H | 4893 | 614470 | RAS-associated autoimmune leukoproliferative disorder | 614470 | C2674723 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | NRAS CL E G H | 4893 | 614470 | RAS-associated autoimmune leukoproliferative disorder | 614470 | C2674723 | OMIM | 1 | | 281 | 7989 | 164790 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 1189 | 8653 | 232000 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 1189 | 8653 | 232000 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 971 | 8654 | 232050 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 971 | 8654 | 232050 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | PGM3 CL E G H | 5238 | 615816 | Immunodeficiency 23 | 615816 | C4014371 | OMIM | 1 | | 359 | 8907 | 172100 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | PGM3 CL E G H | 5238 | 615816 | Immunodeficiency 23 | 615816 | C4014371 | OMIM | 1 | | 359 | 8907 | 172100 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | PIK3R1 CL E G H | 5295 | 615214 | Agammaglobulinemia 7, autosomal recessive | 615214 | C3554689 | OMIM | 1 | | 457 | 8979 | 171833 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | PIK3R1 CL E G H | 5295 | 615214 | Agammaglobulinemia 7, autosomal recessive | 615214 | C3554689 | OMIM | 1 | | 457 | 8979 | 171833 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 64 | 9352 | 176763 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | RAB27A CL E G H | 5873 | 79477 | | | | ORPHA | 1 | | 298 | 9766 | 603868 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | RAB27A CL E G H | 5873 | 79477 | | | | ORPHA | 1 | | 298 | 9766 | 603868 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | RFX5 CL E G H | 5993 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 350 | 9986 | 601863 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | RFX5 CL E G H | 5993 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 350 | 9986 | 601863 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | RFXANK CL E G H | 8625 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 241 | 9987 | 603200 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | RFXANK CL E G H | 8625 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 241 | 9987 | 603200 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | RFXAP CL E G H | 5994 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 219 | 9988 | 601861 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | RFXAP CL E G H | 5994 | 209920 | Bare lymphocyte syndrome 2 | 209920 | C2931418 | OMIM | 1 | | 219 | 9988 | 601861 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | RMRP CL E G H | 6023 | 175 | | | | ORPHA | 1 | | 802 | 10031 | 157660 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | RMRP CL E G H | 6023 | 175 | | | | ORPHA | 1 | | 802 | 10031 | 157660 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | RMRP CL E G H | 6023 | 250250 | Metaphyseal chondrodysplasia, McKusick type | 250250 | C0220748 | OMIM | 1 | | 802 | 10031 | 157660 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | RMRP CL E G H | 6023 | 250250 | Metaphyseal chondrodysplasia, McKusick type | 250250 | C0220748 | OMIM | 1 | | 802 | 10031 | 157660 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | RPL11 CL E G H | 6135 | 612562 | Diamond-Blackfan anemia 7 | 612562 | C2675512 | OMIM | 1 | | 154 | 10301 | 604175 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | RPL11 CL E G H | 6135 | 612562 | Diamond-Blackfan anemia 7 | 612562 | C2675512 | OMIM | 1 | | 154 | 10301 | 604175 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | RPL26 CL E G H | 6154 | 614900 | Diamond-Blackfan anemia 11 | 614900 | C3554042 | OMIM | 1 | | 87 | 10327 | 603704 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | RPL26 CL E G H | 6154 | 614900 | Diamond-Blackfan anemia 11 | 614900 | C3554042 | OMIM | 1 | | 87 | 10327 | 603704 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | RPS17 CL E G H | 6218 | 612527 | Diamond-Blackfan anemia 4 | 612527 | C2675860 | OMIM | 1 | | 47 | 10397 | 180472 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | RPS17 CL E G H | 6218 | 612527 | Diamond-Blackfan anemia 4 | 612527 | C2675860 | OMIM | 1 | | 47 | 10397 | 180472 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | RPS19 CL E G H | 6223 | 105650 | Diamond-Blackfan anemia 1 | 105650 | C2676137 | OMIM | 1 | | 214 | 10402 | 603474 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | RPS19 CL E G H | 6223 | 105650 | Diamond-Blackfan anemia 1 | 105650 | C2676137 | OMIM | 1 | | 214 | 10402 | 603474 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | RPS7 CL E G H | 6201 | 612563 | Diamond-Blackfan anemia 8 | 612563 | C2675511 | OMIM | 1 | | 187 | 10440 | 603658 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | RPS7 CL E G H | 6201 | 612563 | Diamond-Blackfan anemia 8 | 612563 | C2675511 | OMIM | 1 | | 187 | 10440 | 603658 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | SBDS CL E G H | 51119 | 811 | Balo disease | | | ORPHA | 1 | | 119 | 19440 | 607444 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | SBDS CL E G H | 51119 | 811 | Balo disease | | | ORPHA | 1 | | 119 | 19440 | 607444 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | SBDS CL E G H | 51119 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 119 | 19440 | 607444 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | SBDS CL E G H | 51119 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 119 | 19440 | 607444 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | SEC61A1 CL E G H | 29927 | 617056 | Hyperuricemic nephropathy, familial juvenile, 4 | 617056 | C4310741 | OMIM | 1 | | 201 | 18276 | 609213 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | SEC61A1 CL E G H | 29927 | 617056 | Hyperuricemic nephropathy, familial juvenile, 4 | 617056 | C4310741 | OMIM | 1 | | 201 | 18276 | 609213 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | SLC35A1 CL E G H | 10559 | 238459 | | | | ORPHA | 1 | | 125 | 11021 | 605634 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | SLC35A1 CL E G H | 10559 | 238459 | | | | ORPHA | 1 | | 125 | 11021 | 605634 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | SLC35A1 CL E G H | 10559 | 603585 | Congenital disorder of glycosylation type 2F | 603585 | C1970344 | OMIM | 1 | | 125 | 11021 | 605634 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | SLC37A4 CL E G H | 2542 | 232220 | Glucose-6-phosphate transport defect | 232220 | C0268146 | OMIM | 1 | | 903 | 4061 | 602671 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | SLC46A1 CL E G H | 113235 | 229050 | Congenital defect of folate absorption | 229050 | C0342705 | OMIM | 1 | | 329 | 30521 | 611672 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | SLC46A1 CL E G H | 113235 | 229050 | Congenital defect of folate absorption | 229050 | C0342705 | OMIM | 1 | | 329 | 30521 | 611672 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | SMARCAL1 CL E G H | 50485 | 242900 | Schimke immunoosseous dysplasia | 242900 | C0877024 | OMIM | 1 | | 942 | 11102 | 606622 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | SMARCAL1 CL E G H | 50485 | 242900 | Schimke immunoosseous dysplasia | 242900 | C0877024 | OMIM | 1 | | 942 | 11102 | 606622 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | SRP54 CL E G H | 6729 | 811 | Balo disease | | | ORPHA | 1 | | 204 | 11301 | 604857 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | SRP54 CL E G H | 6729 | 811 | Balo disease | | | ORPHA | 1 | | 204 | 11301 | 604857 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | SRP54 CL E G H | 6729 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 204 | 11301 | 604857 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | SRP54 CL E G H | 6729 | 260400 | Shwachman syndrome | 260400 | C0272170 | OMIM | 1 | | 204 | 11301 | 604857 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | STK4 CL E G H | 6789 | 614868 | T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations | 614868 | C3553943 | OMIM | 1 | | 195 | 11408 | 604965 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | STK4 CL E G H | 6789 | 614868 | T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations | 614868 | C3553943 | OMIM | 1 | | 195 | 11408 | 604965 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | TCN2 CL E G H | 6948 | 859 | | | | ORPHA | 1 | | 519 | 11653 | 613441 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | TCN2 CL E G H | 6948 | 859 | | | | ORPHA | 1 | | 519 | 11653 | 613441 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | TCN2 CL E G H | 6948 | 275350 | Transcobalamin II deficiency | 275350 | C0342701 | OMIM | 1 | | 519 | 11653 | 613441 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | TCN2 CL E G H | 6948 | 275350 | Transcobalamin II deficiency | 275350 | C0342701 | OMIM | 1 | | 519 | 11653 | 613441 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | TFR2 CL E G H | 7036 | 604250 | Hemochromatosis type 3 | 604250 | C1858664 | OMIM | 1 | | 687 | 11762 | 604720 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | TFR2 CL E G H | 7036 | 604250 | Hemochromatosis type 3 | 604250 | C1858664 | OMIM | 1 | | 687 | 11762 | 604720 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | TFRC CL E G H | 7037 | 616740 | Immunodeficiency 46 | 616740 | C4225219 | OMIM | 1 | | 502 | 11763 | 190010 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | TFRC CL E G H | 7037 | 616740 | Immunodeficiency 46 | 616740 | C4225219 | OMIM | 1 | | 502 | 11763 | 190010 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | USB1 CL E G H | 79650 | 604173 | Poikiloderma with neutropenia | 604173 | C1858723 | OMIM | 1 | | 282 | 25792 | 613276 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | USB1 CL E G H | 79650 | 604173 | Poikiloderma with neutropenia | 604173 | C1858723 | OMIM | 1 | | 282 | 25792 | 613276 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | VPS13B CL E G H | 157680 | 193 | | | | ORPHA | 1 | | 4876 | 2183 | 607817 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | VPS13B CL E G H | 157680 | 193 | | | | ORPHA | 1 | | 4876 | 2183 | 607817 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | VPS13B CL E G H | 157680 | 216550 | Cohen syndrome | 216550 | C0265223 | OMIM | 1 | | 4876 | 2183 | 607817 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | VPS13B CL E G H | 157680 | 216550 | Cohen syndrome | 216550 | C0265223 | OMIM | 1 | | 4876 | 2183 | 607817 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | VPS45 CL E G H | 11311 | 615285 | Severe congenital neutropenia 5, autosomal recessive | 615285 | C3809031 | OMIM | 1 | | 452 | 14579 | 610035 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | VPS45 CL E G H | 11311 | 615285 | Severe congenital neutropenia 5, autosomal recessive | 615285 | C3809031 | OMIM | 1 | | 452 | 14579 | 610035 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | WAS CL E G H | 7454 | 86788 | | | | ORPHA | 1 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | WAS CL E G H | 7454 | 86788 | | | | ORPHA | 1 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | WAS CL E G H | 7454 | 300299 | Severe congenital neutropenia X-linked | 300299 | C1845987 | OMIM | 1 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | WAS CL E G H | 7454 | 300299 | Severe congenital neutropenia X-linked | 300299 | C1845987 | OMIM | 1 | | 603 | 12731 | 300392 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001875 | HP:0001875 | Neutropenia | 0 | BLNK CL E G H | 29760 | 33110 | | | | ORPHA | 0 | | 296 | 14211 | 604515 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | CD79A CL E G H | 973 | 33110 | | | | ORPHA | 0 | | 150 | 1698 | 112205 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | CD79A CL E G H | 973 | 613501 | Agammaglobulinemia 3, autosomal recessive | 613501 | C3150751 | OMIM | 0 | | 150 | 1698 | 112205 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | CD79B CL E G H | 974 | 33110 | | | | ORPHA | 0 | | 161 | 1699 | 147245 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | ETV6 CL E G H | 2120 | 616216 | Thrombocytopenia 5 | 616216 | C4015537 | OMIM | 0 | | 284 | 3495 | 600618 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 0 | | 566 | 13601 | 605654 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | IGHM CL E G H | 3507 | 33110 | | | | ORPHA | 0 | | 83 | 5541 | 147020 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | IGLL1 CL E G H | 3543 | 33110 | | | | ORPHA | 0 | | 310 | 5870 | 146770 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | LBR CL E G H | 3930 | 169400 | Pelger-Huët anomaly | 169400 | C0030779 | OMIM | 0 | | 357 | 6518 | 600024 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | LRBA CL E G H | 987 | 614700 | Common variable immunodeficiency 8, with autoimmunity | 614700 | C3553512 | OMIM | 0 | | 1840 | 1742 | 606453 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | LRRC8A CL E G H | 56262 | 33110 | | | | ORPHA | 0 | | 321 | 19027 | 608360 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | MMUT CL E G H | 4594 | 79312 | | | | ORPHA | 0 | | 896 | 7526 | 609058 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | MMUT CL E G H | 4594 | 289916 | | | | ORPHA | 0 | | 896 | 7526 | 609058 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | PACS2 CL E G H | 23241 | 618067 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 | 618067 | CN252658 | OMIM | 0 | | 858 | 23794 | 610423 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | PIK3R1 CL E G H | 5295 | 33110 | | | | ORPHA | 0 | | 457 | 8979 | 171833 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 0 | | 4259 | 9949 | 603780 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | SMARCD2 CL E G H | 6603 | 617475 | Specific granule deficiency 2 | 617475 | C4479548 | OMIM | 0 | | 243 | 11107 | 601736 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | STX11 CL E G H | 8676 | 603552 | Hemophagocytic lymphohistiocytosis, familial, 4 | 603552 | C1863728 | OMIM | 0 | | 337 | 11429 | 605014 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | TAZ CL E G H | 6901 | 302060 | 3-Methylglutaconic aciduria type 2 | 302060 | C0574083 | OMIM | 0 | | | 11577 | 300394 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | TCF3 CL E G H | 6929 | 33110 | | | | ORPHA | 0 | | 744 | 11633 | 147141 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 0 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0001875 | Neutropenia | 0 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 0 | | 279 | 12736 | 602357 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | BLNK CL E G H | 29760 | 33110 | | | | ORPHA | 0 | | 296 | 14211 | 604515 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | BLNK CL E G H | 29760 | 33110 | | | | ORPHA | 0 | | 296 | 14211 | 604515 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | BLNK CL E G H | 29760 | 33110 | | | | ORPHA | 0 | | 296 | 14211 | 604515 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | BLNK CL E G H | 29760 | 33110 | | | | ORPHA | 0 | | 296 | 14211 | 604515 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | CD79A CL E G H | 973 | 33110 | | | | ORPHA | 0 | | 150 | 1698 | 112205 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | CD79A CL E G H | 973 | 33110 | | | | ORPHA | 0 | | 150 | 1698 | 112205 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | CD79A CL E G H | 973 | 33110 | | | | ORPHA | 0 | | 150 | 1698 | 112205 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | CD79A CL E G H | 973 | 33110 | | | | ORPHA | 0 | | 150 | 1698 | 112205 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | CD79A CL E G H | 973 | 613501 | Agammaglobulinemia 3, autosomal recessive | 613501 | C3150751 | OMIM | 0 | | 150 | 1698 | 112205 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | CD79A CL E G H | 973 | 613501 | Agammaglobulinemia 3, autosomal recessive | 613501 | C3150751 | OMIM | 0 | | 150 | 1698 | 112205 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | CD79A CL E G H | 973 | 613501 | Agammaglobulinemia 3, autosomal recessive | 613501 | C3150751 | OMIM | 0 | | 150 | 1698 | 112205 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | CD79A CL E G H | 973 | 613501 | Agammaglobulinemia 3, autosomal recessive | 613501 | C3150751 | OMIM | 0 | | 150 | 1698 | 112205 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | CD79B CL E G H | 974 | 33110 | | | | ORPHA | 0 | | 161 | 1699 | 147245 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | CD79B CL E G H | 974 | 33110 | | | | ORPHA | 0 | | 161 | 1699 | 147245 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | CD79B CL E G H | 974 | 33110 | | | | ORPHA | 0 | | 161 | 1699 | 147245 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | CD79B CL E G H | 974 | 33110 | | | | ORPHA | 0 | | 161 | 1699 | 147245 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | ETV6 CL E G H | 2120 | 616216 | Thrombocytopenia 5 | 616216 | C4015537 | OMIM | 0 | | 284 | 3495 | 600618 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | ETV6 CL E G H | 2120 | 616216 | Thrombocytopenia 5 | 616216 | C4015537 | OMIM | 0 | | 284 | 3495 | 600618 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | ETV6 CL E G H | 2120 | 616216 | Thrombocytopenia 5 | 616216 | C4015537 | OMIM | 0 | | 284 | 3495 | 600618 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | ETV6 CL E G H | 2120 | 616216 | Thrombocytopenia 5 | 616216 | C4015537 | OMIM | 0 | | 284 | 3495 | 600618 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 0 | | 566 | 13601 | 605654 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 0 | | 566 | 13601 | 605654 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 0 | | 566 | 13601 | 605654 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 0 | | 566 | 13601 | 605654 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | IGHM CL E G H | 3507 | 33110 | | | | ORPHA | 0 | | 83 | 5541 | 147020 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | IGHM CL E G H | 3507 | 33110 | | | | ORPHA | 0 | | 83 | 5541 | 147020 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | IGHM CL E G H | 3507 | 33110 | | | | ORPHA | 0 | | 83 | 5541 | 147020 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | IGHM CL E G H | 3507 | 33110 | | | | ORPHA | 0 | | 83 | 5541 | 147020 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | IGLL1 CL E G H | 3543 | 33110 | | | | ORPHA | 0 | | 310 | 5870 | 146770 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | IGLL1 CL E G H | 3543 | 33110 | | | | ORPHA | 0 | | 310 | 5870 | 146770 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | IGLL1 CL E G H | 3543 | 33110 | | | | ORPHA | 0 | | 310 | 5870 | 146770 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | IGLL1 CL E G H | 3543 | 33110 | | | | ORPHA | 0 | | 310 | 5870 | 146770 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | LBR CL E G H | 3930 | 169400 | Pelger-Huët anomaly | 169400 | C0030779 | OMIM | 0 | | 357 | 6518 | 600024 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | LBR CL E G H | 3930 | 169400 | Pelger-Huët anomaly | 169400 | C0030779 | OMIM | 0 | | 357 | 6518 | 600024 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | LBR CL E G H | 3930 | 169400 | Pelger-Huët anomaly | 169400 | C0030779 | OMIM | 0 | | 357 | 6518 | 600024 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | LBR CL E G H | 3930 | 169400 | Pelger-Huët anomaly | 169400 | C0030779 | OMIM | 0 | | 357 | 6518 | 600024 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | LRBA CL E G H | 987 | 614700 | Common variable immunodeficiency 8, with autoimmunity | 614700 | C3553512 | OMIM | 0 | | 1840 | 1742 | 606453 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | LRBA CL E G H | 987 | 614700 | Common variable immunodeficiency 8, with autoimmunity | 614700 | C3553512 | OMIM | 0 | | 1840 | 1742 | 606453 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | LRBA CL E G H | 987 | 614700 | Common variable immunodeficiency 8, with autoimmunity | 614700 | C3553512 | OMIM | 0 | | 1840 | 1742 | 606453 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | LRBA CL E G H | 987 | 614700 | Common variable immunodeficiency 8, with autoimmunity | 614700 | C3553512 | OMIM | 0 | | 1840 | 1742 | 606453 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | LRRC8A CL E G H | 56262 | 33110 | | | | ORPHA | 0 | | 321 | 19027 | 608360 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | LRRC8A CL E G H | 56262 | 33110 | | | | ORPHA | 0 | | 321 | 19027 | 608360 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | LRRC8A CL E G H | 56262 | 33110 | | | | ORPHA | 0 | | 321 | 19027 | 608360 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | LRRC8A CL E G H | 56262 | 33110 | | | | ORPHA | 0 | | 321 | 19027 | 608360 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | MMUT CL E G H | 4594 | 79312 | | | | ORPHA | 0 | | 896 | 7526 | 609058 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | MMUT CL E G H | 4594 | 289916 | | | | ORPHA | 0 | | 896 | 7526 | 609058 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | MMUT CL E G H | 4594 | 79312 | | | | ORPHA | 0 | | 896 | 7526 | 609058 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | MMUT CL E G H | 4594 | 289916 | | | | ORPHA | 0 | | 896 | 7526 | 609058 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | MMUT CL E G H | 4594 | 79312 | | | | ORPHA | 0 | | 896 | 7526 | 609058 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | MMUT CL E G H | 4594 | 289916 | | | | ORPHA | 0 | | 896 | 7526 | 609058 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | MMUT CL E G H | 4594 | 79312 | | | | ORPHA | 0 | | 896 | 7526 | 609058 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | MMUT CL E G H | 4594 | 289916 | | | | ORPHA | 0 | | 896 | 7526 | 609058 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | PACS2 CL E G H | 23241 | 618067 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 | 618067 | CN252658 | OMIM | 0 | | 858 | 23794 | 610423 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | PACS2 CL E G H | 23241 | 618067 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 | 618067 | CN252658 | OMIM | 0 | | 858 | 23794 | 610423 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | PACS2 CL E G H | 23241 | 618067 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 | 618067 | CN252658 | OMIM | 0 | | 858 | 23794 | 610423 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | PACS2 CL E G H | 23241 | 618067 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 | 618067 | CN252658 | OMIM | 0 | | 858 | 23794 | 610423 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | PIK3R1 CL E G H | 5295 | 33110 | | | | ORPHA | 0 | | 457 | 8979 | 171833 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | PIK3R1 CL E G H | 5295 | 33110 | | | | ORPHA | 0 | | 457 | 8979 | 171833 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | PIK3R1 CL E G H | 5295 | 33110 | | | | ORPHA | 0 | | 457 | 8979 | 171833 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | PIK3R1 CL E G H | 5295 | 33110 | | | | ORPHA | 0 | | 457 | 8979 | 171833 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 0 | | 4259 | 9949 | 603780 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 0 | | 4259 | 9949 | 603780 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 0 | | 4259 | 9949 | 603780 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 0 | | 4259 | 9949 | 603780 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | SMARCD2 CL E G H | 6603 | 617475 | Specific granule deficiency 2 | 617475 | C4479548 | OMIM | 0 | | 243 | 11107 | 601736 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | SMARCD2 CL E G H | 6603 | 617475 | Specific granule deficiency 2 | 617475 | C4479548 | OMIM | 0 | | 243 | 11107 | 601736 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | SMARCD2 CL E G H | 6603 | 617475 | Specific granule deficiency 2 | 617475 | C4479548 | OMIM | 0 | | 243 | 11107 | 601736 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | SMARCD2 CL E G H | 6603 | 617475 | Specific granule deficiency 2 | 617475 | C4479548 | OMIM | 0 | | 243 | 11107 | 601736 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | STX11 CL E G H | 8676 | 603552 | Hemophagocytic lymphohistiocytosis, familial, 4 | 603552 | C1863728 | OMIM | 0 | | 337 | 11429 | 605014 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | STX11 CL E G H | 8676 | 603552 | Hemophagocytic lymphohistiocytosis, familial, 4 | 603552 | C1863728 | OMIM | 0 | | 337 | 11429 | 605014 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | STX11 CL E G H | 8676 | 603552 | Hemophagocytic lymphohistiocytosis, familial, 4 | 603552 | C1863728 | OMIM | 0 | | 337 | 11429 | 605014 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | STX11 CL E G H | 8676 | 603552 | Hemophagocytic lymphohistiocytosis, familial, 4 | 603552 | C1863728 | OMIM | 0 | | 337 | 11429 | 605014 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | TAZ CL E G H | 6901 | 302060 | 3-Methylglutaconic aciduria type 2 | 302060 | C0574083 | OMIM | 0 | | | 11577 | 300394 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | TAZ CL E G H | 6901 | 302060 | 3-Methylglutaconic aciduria type 2 | 302060 | C0574083 | OMIM | 0 | | | 11577 | 300394 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | TAZ CL E G H | 6901 | 302060 | 3-Methylglutaconic aciduria type 2 | 302060 | C0574083 | OMIM | 0 | | | 11577 | 300394 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | TAZ CL E G H | 6901 | 302060 | 3-Methylglutaconic aciduria type 2 | 302060 | C0574083 | OMIM | 0 | | | 11577 | 300394 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | TCF3 CL E G H | 6929 | 33110 | | | | ORPHA | 0 | | 744 | 11633 | 147141 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | TCF3 CL E G H | 6929 | 33110 | | | | ORPHA | 0 | | 744 | 11633 | 147141 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | TCF3 CL E G H | 6929 | 33110 | | | | ORPHA | 0 | | 744 | 11633 | 147141 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | TCF3 CL E G H | 6929 | 33110 | | | | ORPHA | 0 | | 744 | 11633 | 147141 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 0 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 0 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 0 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 0 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0410252 | Chronic neutropenia | 1 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 0 | | 279 | 12736 | 602357 |
HP:0001875 | HP:0410255 | Transient neutropenia | 1 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 0 | | 279 | 12736 | 602357 |
HP:0001875 | HP:0001904 | Neutropenia in presence of anti-neutropil antibodies | 1 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 0 | | 279 | 12736 | 602357 |
HP:0001875 | HP:0040289 | Cyclic neutropenia | 1 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 0 | | 279 | 12736 | 602357 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | BLNK CL E G H | 29760 | 33110 | | | | ORPHA | 0 | | 296 | 14211 | 604515 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | BLNK CL E G H | 29760 | 33110 | | | | ORPHA | 0 | | 296 | 14211 | 604515 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | CD79A CL E G H | 973 | 33110 | | | | ORPHA | 0 | | 150 | 1698 | 112205 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | CD79A CL E G H | 973 | 33110 | | | | ORPHA | 0 | | 150 | 1698 | 112205 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | CD79A CL E G H | 973 | 613501 | Agammaglobulinemia 3, autosomal recessive | 613501 | C3150751 | OMIM | 0 | | 150 | 1698 | 112205 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | CD79A CL E G H | 973 | 613501 | Agammaglobulinemia 3, autosomal recessive | 613501 | C3150751 | OMIM | 0 | | 150 | 1698 | 112205 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | CD79B CL E G H | 974 | 33110 | | | | ORPHA | 0 | | 161 | 1699 | 147245 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | CD79B CL E G H | 974 | 33110 | | | | ORPHA | 0 | | 161 | 1699 | 147245 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | ETV6 CL E G H | 2120 | 616216 | Thrombocytopenia 5 | 616216 | C4015537 | OMIM | 0 | | 284 | 3495 | 600618 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | ETV6 CL E G H | 2120 | 616216 | Thrombocytopenia 5 | 616216 | C4015537 | OMIM | 0 | | 284 | 3495 | 600618 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 0 | | 566 | 13601 | 605654 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | FBXL4 CL E G H | 26235 | 615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 615471 | C3809592 | OMIM | 0 | | 566 | 13601 | 605654 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | HBB CL E G H | 3043 | 231214 | | | | ORPHA | 0 | | 1600 | 4827 | 141900 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | IGHM CL E G H | 3507 | 33110 | | | | ORPHA | 0 | | 83 | 5541 | 147020 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | IGHM CL E G H | 3507 | 33110 | | | | ORPHA | 0 | | 83 | 5541 | 147020 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | IGLL1 CL E G H | 3543 | 33110 | | | | ORPHA | 0 | | 310 | 5870 | 146770 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | IGLL1 CL E G H | 3543 | 33110 | | | | ORPHA | 0 | | 310 | 5870 | 146770 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | LBR CL E G H | 3930 | 169400 | Pelger-Huët anomaly | 169400 | C0030779 | OMIM | 0 | | 357 | 6518 | 600024 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | LBR CL E G H | 3930 | 169400 | Pelger-Huët anomaly | 169400 | C0030779 | OMIM | 0 | | 357 | 6518 | 600024 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | LRBA CL E G H | 987 | 614700 | Common variable immunodeficiency 8, with autoimmunity | 614700 | C3553512 | OMIM | 0 | | 1840 | 1742 | 606453 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | LRBA CL E G H | 987 | 614700 | Common variable immunodeficiency 8, with autoimmunity | 614700 | C3553512 | OMIM | 0 | | 1840 | 1742 | 606453 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | LRRC8A CL E G H | 56262 | 33110 | | | | ORPHA | 0 | | 321 | 19027 | 608360 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | LRRC8A CL E G H | 56262 | 33110 | | | | ORPHA | 0 | | 321 | 19027 | 608360 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | MMUT CL E G H | 4594 | 79312 | | | | ORPHA | 0 | | 896 | 7526 | 609058 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | MMUT CL E G H | 4594 | 289916 | | | | ORPHA | 0 | | 896 | 7526 | 609058 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | MMUT CL E G H | 4594 | 79312 | | | | ORPHA | 0 | | 896 | 7526 | 609058 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | MMUT CL E G H | 4594 | 289916 | | | | ORPHA | 0 | | 896 | 7526 | 609058 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | PACS2 CL E G H | 23241 | 618067 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 | 618067 | CN252658 | OMIM | 0 | | 858 | 23794 | 610423 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | PACS2 CL E G H | 23241 | 618067 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 | 618067 | CN252658 | OMIM | 0 | | 858 | 23794 | 610423 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | PIK3R1 CL E G H | 5295 | 33110 | | | | ORPHA | 0 | | 457 | 8979 | 171833 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | PIK3R1 CL E G H | 5295 | 33110 | | | | ORPHA | 0 | | 457 | 8979 | 171833 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 0 | | 4259 | 9949 | 603780 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | RECQL4 CL E G H | 9401 | 221016 | | | | ORPHA | 0 | | 4259 | 9949 | 603780 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | SMARCD2 CL E G H | 6603 | 617475 | Specific granule deficiency 2 | 617475 | C4479548 | OMIM | 0 | | 243 | 11107 | 601736 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | SMARCD2 CL E G H | 6603 | 617475 | Specific granule deficiency 2 | 617475 | C4479548 | OMIM | 0 | | 243 | 11107 | 601736 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | STX11 CL E G H | 8676 | 603552 | Hemophagocytic lymphohistiocytosis, familial, 4 | 603552 | C1863728 | OMIM | 0 | | 337 | 11429 | 605014 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | STX11 CL E G H | 8676 | 603552 | Hemophagocytic lymphohistiocytosis, familial, 4 | 603552 | C1863728 | OMIM | 0 | | 337 | 11429 | 605014 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | TAZ CL E G H | 6901 | 302060 | 3-Methylglutaconic aciduria type 2 | 302060 | C0574083 | OMIM | 0 | | | 11577 | 300394 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | TAZ CL E G H | 6901 | 302060 | 3-Methylglutaconic aciduria type 2 | 302060 | C0574083 | OMIM | 0 | | | 11577 | 300394 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | TCF3 CL E G H | 6929 | 33110 | | | | ORPHA | 0 | | 744 | 11633 | 147141 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | TCF3 CL E G H | 6929 | 33110 | | | | ORPHA | 0 | | 744 | 11633 | 147141 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 0 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 0 | | 603 | 12731 | 300392 |
HP:0001875 | HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow | 2 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 0 | | 279 | 12736 | 602357 |
HP:0001875 | HP:0410256 | Infection associated neutropenia | 2 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 0 | | 279 | 12736 | 602357 |