Human Phenotype Ontology 
Grandparent Node:
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Abnormal leukocyte morphology (HP:0001881)help
Parent Node:
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Abnormal leukocyte count (HP:0011893)help
..Starting node
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Leukopenia (HP:0001882)help
Term ID: 1882
Name: Leukopenia
Synonym: Decreased blood leukocyte number; Low white blood cell count
Definition: An abnormal decreased number of leukocytes in the blood.
Comments:
Reference: HP:0001882
Genes and Diseases:
 
       Child Nodes:
........expandLymphopenia (HP:0001888) help
................... HP:0005403 Decrease in T cell count
................... HP:0010976 B lymphocytopenia

 Sister Nodes: 
..expandAbnormal lymphocyte count (HP:0040088) help
..expandAbnormal monocyte count (HP:0012310) help
..expandAbnormal neutrophil count (HP:0011991) help
..expandLeukocytosis (HP:0001974) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001882HP:0001882Leukopenia0AK2 CL E G H20433355ORPHA11987362103020
HP:0001882HP:0001882Leukopenia0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0001882HP:0001882Leukopenia0BLOC1S6 CL E G H26258614171Hermansky-Pudlak syndrome 9614171C3280026OMIM12428549604310
HP:0001882HP:0001882Leukopenia0BRCA1 CL E G H67284ORPHA12824114981100113705
HP:0001882HP:0001882Leukopenia0BRCA2 CL E G H67584ORPHA13025127061101600185
HP:0001882HP:0001882Leukopenia0BRIP1 CL E G H8399084ORPHA1202305020473605882
HP:0001882HP:0001882Leukopenia0BTNL2 CL E G H56244797ORPHA111181142606000
HP:0001882HP:0001882Leukopenia0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753222890300126
HP:0001882HP:0001882Leukopenia0ERCC4 CL E G H207284ORPHA1723483436133520
HP:0001882HP:0001882Leukopenia0ERCC6L2 CL E G H375748615715Bone marrow failure syndrome 2615715C3810350OMIM1146726922615667
HP:0001882HP:0001882Leukopenia0FANCA CL E G H217584ORPHA168917063582607139
HP:0001882HP:0001882Leukopenia0FANCB CL E G H218784ORPHA1213523583300515
HP:0001882HP:0001882Leukopenia0FANCC CL E G H217684ORPHA1658823584613899
HP:0001882HP:0001882Leukopenia0FANCD2 CL E G H217784ORPHA1644293585613984
HP:0001882HP:0001882Leukopenia0FANCE CL E G H217884ORPHA1172013586613976
HP:0001882HP:0001882Leukopenia0FANCF CL E G H218884ORPHA1162023587613897
HP:0001882HP:0001882Leukopenia0FANCG CL E G H218984ORPHA1923253588602956
HP:0001882HP:0001882Leukopenia0FANCI CL E G H5521584ORPHA14552125568611360
HP:0001882HP:0001882Leukopenia0FANCL CL E G H5512084ORPHA12417620748608111
HP:0001882HP:0001882Leukopenia0FANCM CL E G H5769784ORPHA15369723168609644
HP:0001882HP:0001882Leukopenia0HLA-DRB1 CL E G H3123797ORPHA126194948142857
HP:0001882HP:0001882Leukopenia0IVD CL E G H3712243500Isovaleryl-CoA dehydrogenase deficiency243500C0268575OMIM1922586186607036
HP:0001882HP:0001882Leukopenia0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0001882HP:0001882Leukopenia0MAD2L2 CL E G H1045984ORPHA11546764604094
HP:0001882HP:0001882Leukopenia0MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM14407526609058
HP:0001882HP:0001882Leukopenia0MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM132629401612176
HP:0001882HP:0001882Leukopenia0PALB2 CL E G H7972884ORPHA1417350326144610355
HP:0001882HP:0001882Leukopenia0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM11842359360170280
HP:0001882HP:0001882Leukopenia0RAD51 CL E G H588884ORPHA116369817179617
HP:0001882HP:0001882Leukopenia0RAD51C CL E G H588984ORPHA113111309820602774
HP:0001882HP:0001882Leukopenia0RFWD3 CL E G H5515984ORPHA124925539614151
HP:0001882HP:0001882Leukopenia0RPL35A CL E G H6165612528Diamond-Blackfan anemia 5612528C2675859OMIM1148210345180468
HP:0001882HP:0001882Leukopenia0RTEL1 CL E G H51750615190Dyskeratosis congenita, autosomal recessive, 5615190C3554656OMIM15468415888608833
HP:0001882HP:0001882Leukopenia0SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM1513717697612804
HP:0001882HP:0001882Leukopenia0SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM12316630521611672
HP:0001882HP:0001882Leukopenia0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16725211065603593
HP:0001882HP:0001882Leukopenia0SLX4 CL E G H8446484ORPHA17281823845613278
HP:0001882HP:0001882Leukopenia0TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM14216511824604319
HP:0001882HP:0001882Leukopenia0TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM11527962612374
HP:0001882HP:0001882Leukopenia0UBE2T CL E G H2908984ORPHA171825009610538
HP:0001882HP:0001882Leukopenia0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0001882HP:0001882Leukopenia0VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM1410214579610035
HP:0001882HP:0001882Leukopenia0XRCC2 CL E G H751684ORPHA12335812829600375
HP:0001882HP:0001882Leukopenia1AK2 CL E G H20433355ORPHA11987362103020
HP:0001882HP:0001882Leukopenia1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0001882HP:0001882Leukopenia1BLOC1S6 CL E G H26258614171Hermansky-Pudlak syndrome 9614171C3280026OMIM12428549604310
HP:0001882HP:0001882Leukopenia1BRCA1 CL E G H67284ORPHA12824114981100113705
HP:0001882HP:0001882Leukopenia1BRCA2 CL E G H67584ORPHA13025127061101600185
HP:0001882HP:0001882Leukopenia1BRIP1 CL E G H8399084ORPHA1202305020473605882
HP:0001882HP:0001882Leukopenia1BTNL2 CL E G H56244797ORPHA111181142606000
HP:0001882HP:0001882Leukopenia1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753222890300126
HP:0001882HP:0001882Leukopenia1ERCC4 CL E G H207284ORPHA1723483436133520
HP:0001882HP:0001882Leukopenia1ERCC6L2 CL E G H375748615715Bone marrow failure syndrome 2615715C3810350OMIM1146726922615667
HP:0001882HP:0001882Leukopenia1FANCA CL E G H217584ORPHA168917063582607139
HP:0001882HP:0001882Leukopenia1FANCB CL E G H218784ORPHA1213523583300515
HP:0001882HP:0001882Leukopenia1FANCC CL E G H217684ORPHA1658823584613899
HP:0001882HP:0001882Leukopenia1FANCD2 CL E G H217784ORPHA1644293585613984
HP:0001882HP:0001882Leukopenia1FANCE CL E G H217884ORPHA1172013586613976
HP:0001882HP:0001882Leukopenia1FANCF CL E G H218884ORPHA1162023587613897
HP:0001882HP:0001882Leukopenia1FANCG CL E G H218984ORPHA1923253588602956
HP:0001882HP:0001882Leukopenia1FANCI CL E G H5521584ORPHA14552125568611360
HP:0001882HP:0001882Leukopenia1FANCL CL E G H5512084ORPHA12417620748608111
HP:0001882HP:0001882Leukopenia1FANCM CL E G H5769784ORPHA15369723168609644
HP:0001882HP:0001882Leukopenia1HLA-DRB1 CL E G H3123797ORPHA126194948142857
HP:0001882HP:0001882Leukopenia1IVD CL E G H3712243500Isovaleryl-CoA dehydrogenase deficiency243500C0268575OMIM1922586186607036
HP:0001882HP:0001882Leukopenia1LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0001882HP:0001882Leukopenia1MAD2L2 CL E G H1045984ORPHA11546764604094
HP:0001882HP:0001882Leukopenia1MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM14407526609058
HP:0001882HP:0001882Leukopenia1MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM132629401612176
HP:0001882HP:0001882Leukopenia1PALB2 CL E G H7972884ORPHA1417350326144610355
HP:0001882HP:0001882Leukopenia1PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM11842359360170280
HP:0001882HP:0001882Leukopenia1RAD51 CL E G H588884ORPHA116369817179617
HP:0001882HP:0001882Leukopenia1RAD51C CL E G H588984ORPHA113111309820602774
HP:0001882HP:0001882Leukopenia1RFWD3 CL E G H5515984ORPHA124925539614151
HP:0001882HP:0001882Leukopenia1RPL35A CL E G H6165612528Diamond-Blackfan anemia 5612528C2675859OMIM1148210345180468
HP:0001882HP:0001882Leukopenia1RTEL1 CL E G H51750615190Dyskeratosis congenita, autosomal recessive, 5615190C3554656OMIM15468415888608833
HP:0001882HP:0001882Leukopenia1SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM1513717697612804
HP:0001882HP:0001882Leukopenia1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM12316630521611672
HP:0001882HP:0001882Leukopenia1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16725211065603593
HP:0001882HP:0001882Leukopenia1SLX4 CL E G H8446484ORPHA17281823845613278
HP:0001882HP:0001882Leukopenia1TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM14216511824604319
HP:0001882HP:0001882Leukopenia1TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM11527962612374
HP:0001882HP:0001882Leukopenia1UBE2T CL E G H2908984ORPHA171825009610538
HP:0001882HP:0001882Leukopenia1VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0001882HP:0001882Leukopenia1VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM1410214579610035
HP:0001882HP:0001882Leukopenia1XRCC2 CL E G H751684ORPHA12335812829600375
HP:0001882HP:0001882Leukopenia2AK2 CL E G H20433355ORPHA11987362103020
HP:0001882HP:0001882Leukopenia2ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0001882HP:0001882Leukopenia2BLOC1S6 CL E G H26258614171Hermansky-Pudlak syndrome 9614171C3280026OMIM12428549604310
HP:0001882HP:0001882Leukopenia2BRCA1 CL E G H67284ORPHA12824114981100113705
HP:0001882HP:0001882Leukopenia2BRCA2 CL E G H67584ORPHA13025127061101600185
HP:0001882HP:0001882Leukopenia2BRIP1 CL E G H8399084ORPHA1202305020473605882
HP:0001882HP:0001882Leukopenia2BTNL2 CL E G H56244797ORPHA111181142606000
HP:0001882HP:0001882Leukopenia2DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753222890300126
HP:0001882HP:0001882Leukopenia2ERCC4 CL E G H207284ORPHA1723483436133520
HP:0001882HP:0001882Leukopenia2ERCC6L2 CL E G H375748615715Bone marrow failure syndrome 2615715C3810350OMIM1146726922615667
HP:0001882HP:0001882Leukopenia2FANCA CL E G H217584ORPHA168917063582607139
HP:0001882HP:0001882Leukopenia2FANCB CL E G H218784ORPHA1213523583300515
HP:0001882HP:0001882Leukopenia2FANCC CL E G H217684ORPHA1658823584613899
HP:0001882HP:0001882Leukopenia2FANCD2 CL E G H217784ORPHA1644293585613984
HP:0001882HP:0001882Leukopenia2FANCE CL E G H217884ORPHA1172013586613976
HP:0001882HP:0001882Leukopenia2FANCF CL E G H218884ORPHA1162023587613897
HP:0001882HP:0001882Leukopenia2FANCG CL E G H218984ORPHA1923253588602956
HP:0001882HP:0001882Leukopenia2FANCI CL E G H5521584ORPHA14552125568611360
HP:0001882HP:0001882Leukopenia2FANCL CL E G H5512084ORPHA12417620748608111
HP:0001882HP:0001882Leukopenia2FANCM CL E G H5769784ORPHA15369723168609644
HP:0001882HP:0001882Leukopenia2HLA-DRB1 CL E G H3123797ORPHA126194948142857
HP:0001882HP:0001882Leukopenia2IVD CL E G H3712243500Isovaleryl-CoA dehydrogenase deficiency243500C0268575OMIM1922586186607036
HP:0001882HP:0001882Leukopenia2LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0001882HP:0001882Leukopenia2MAD2L2 CL E G H1045984ORPHA11546764604094
HP:0001882HP:0001882Leukopenia2MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM14407526609058
HP:0001882HP:0001882Leukopenia2MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM132629401612176
HP:0001882HP:0001882Leukopenia2PALB2 CL E G H7972884ORPHA1417350326144610355
HP:0001882HP:0001882Leukopenia2PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM11842359360170280
HP:0001882HP:0001882Leukopenia2RAD51 CL E G H588884ORPHA116369817179617
HP:0001882HP:0001882Leukopenia2RAD51C CL E G H588984ORPHA113111309820602774
HP:0001882HP:0001882Leukopenia2RFWD3 CL E G H5515984ORPHA124925539614151
HP:0001882HP:0001882Leukopenia2RPL35A CL E G H6165612528Diamond-Blackfan anemia 5612528C2675859OMIM1148210345180468
HP:0001882HP:0001882Leukopenia2RTEL1 CL E G H51750615190Dyskeratosis congenita, autosomal recessive, 5615190C3554656OMIM15468415888608833
HP:0001882HP:0001882Leukopenia2SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM1513717697612804
HP:0001882HP:0001882Leukopenia2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM12316630521611672
HP:0001882HP:0001882Leukopenia2SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16725211065603593
HP:0001882HP:0001882Leukopenia2SLX4 CL E G H8446484ORPHA17281823845613278
HP:0001882HP:0001882Leukopenia2TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM14216511824604319
HP:0001882HP:0001882Leukopenia2TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM11527962612374
HP:0001882HP:0001882Leukopenia2UBE2T CL E G H2908984ORPHA171825009610538
HP:0001882HP:0001882Leukopenia2VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0001882HP:0001882Leukopenia2VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM1410214579610035
HP:0001882HP:0001882Leukopenia2XRCC2 CL E G H751684ORPHA12335812829600375
HP:0001882HP:0001882Leukopenia3AK2 CL E G H20433355ORPHA11987362103020
HP:0001882HP:0001882Leukopenia3ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0001882HP:0001882Leukopenia3BLOC1S6 CL E G H26258614171Hermansky-Pudlak syndrome 9614171C3280026OMIM12428549604310
HP:0001882HP:0001882Leukopenia3BRCA1 CL E G H67284ORPHA12824114981100113705
HP:0001882HP:0001882Leukopenia3BRCA2 CL E G H67584ORPHA13025127061101600185
HP:0001882HP:0001882Leukopenia3BRIP1 CL E G H8399084ORPHA1202305020473605882
HP:0001882HP:0001882Leukopenia3BTNL2 CL E G H56244797ORPHA111181142606000
HP:0001882HP:0001882Leukopenia3DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753222890300126
HP:0001882HP:0001882Leukopenia3ERCC4 CL E G H207284ORPHA1723483436133520
HP:0001882HP:0001882Leukopenia3ERCC6L2 CL E G H375748615715Bone marrow failure syndrome 2615715C3810350OMIM1146726922615667
HP:0001882HP:0001882Leukopenia3FANCA CL E G H217584ORPHA168917063582607139
HP:0001882HP:0001882Leukopenia3FANCB CL E G H218784ORPHA1213523583300515
HP:0001882HP:0001882Leukopenia3FANCC CL E G H217684ORPHA1658823584613899
HP:0001882HP:0001882Leukopenia3FANCD2 CL E G H217784ORPHA1644293585613984
HP:0001882HP:0001882Leukopenia3FANCE CL E G H217884ORPHA1172013586613976
HP:0001882HP:0001882Leukopenia3FANCF CL E G H218884ORPHA1162023587613897
HP:0001882HP:0001882Leukopenia3FANCG CL E G H218984ORPHA1923253588602956
HP:0001882HP:0001882Leukopenia3FANCI CL E G H5521584ORPHA14552125568611360
HP:0001882HP:0001882Leukopenia3FANCL CL E G H5512084ORPHA12417620748608111
HP:0001882HP:0001882Leukopenia3FANCM CL E G H5769784ORPHA15369723168609644
HP:0001882HP:0001882Leukopenia3HLA-DRB1 CL E G H3123797ORPHA126194948142857
HP:0001882HP:0001882Leukopenia3IVD CL E G H3712243500Isovaleryl-CoA dehydrogenase deficiency243500C0268575OMIM1922586186607036
HP:0001882HP:0001882Leukopenia3LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0001882HP:0001882Leukopenia3MAD2L2 CL E G H1045984ORPHA11546764604094
HP:0001882HP:0001882Leukopenia3MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM14407526609058
HP:0001882HP:0001882Leukopenia3MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM132629401612176
HP:0001882HP:0001882Leukopenia3PALB2 CL E G H7972884ORPHA1417350326144610355
HP:0001882HP:0001882Leukopenia3PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM11842359360170280
HP:0001882HP:0001882Leukopenia3RAD51 CL E G H588884ORPHA116369817179617
HP:0001882HP:0001882Leukopenia3RAD51C CL E G H588984ORPHA113111309820602774
HP:0001882HP:0001882Leukopenia3RFWD3 CL E G H5515984ORPHA124925539614151
HP:0001882HP:0001882Leukopenia3RPL35A CL E G H6165612528Diamond-Blackfan anemia 5612528C2675859OMIM1148210345180468
HP:0001882HP:0001882Leukopenia3RTEL1 CL E G H51750615190Dyskeratosis congenita, autosomal recessive, 5615190C3554656OMIM15468415888608833
HP:0001882HP:0001882Leukopenia3SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM1513717697612804
HP:0001882HP:0001882Leukopenia3SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM12316630521611672
HP:0001882HP:0001882Leukopenia3SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16725211065603593
HP:0001882HP:0001882Leukopenia3SLX4 CL E G H8446484ORPHA17281823845613278
HP:0001882HP:0001882Leukopenia3TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM14216511824604319
HP:0001882HP:0001882Leukopenia3TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM11527962612374
HP:0001882HP:0001882Leukopenia3UBE2T CL E G H2908984ORPHA171825009610538
HP:0001882HP:0001882Leukopenia3VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0001882HP:0001882Leukopenia3VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM1410214579610035
HP:0001882HP:0001882Leukopenia3XRCC2 CL E G H751684ORPHA12335812829600375
HP:0001882HP:0001882Leukopenia4AK2 CL E G H20433355ORPHA11987362103020
HP:0001882HP:0001882Leukopenia4ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0001882HP:0001882Leukopenia4BLOC1S6 CL E G H26258614171Hermansky-Pudlak syndrome 9614171C3280026OMIM12428549604310
HP:0001882HP:0001882Leukopenia4BRCA1 CL E G H67284ORPHA12824114981100113705
HP:0001882HP:0001882Leukopenia4BRCA2 CL E G H67584ORPHA13025127061101600185
HP:0001882HP:0001882Leukopenia4BRIP1 CL E G H8399084ORPHA1202305020473605882
HP:0001882HP:0001882Leukopenia4BTNL2 CL E G H56244797ORPHA111181142606000
HP:0001882HP:0001882Leukopenia4DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753222890300126
HP:0001882HP:0001882Leukopenia4ERCC4 CL E G H207284ORPHA1723483436133520
HP:0001882HP:0001882Leukopenia4ERCC6L2 CL E G H375748615715Bone marrow failure syndrome 2615715C3810350OMIM1146726922615667
HP:0001882HP:0001882Leukopenia4FANCA CL E G H217584ORPHA168917063582607139
HP:0001882HP:0001882Leukopenia4FANCB CL E G H218784ORPHA1213523583300515
HP:0001882HP:0001882Leukopenia4FANCC CL E G H217684ORPHA1658823584613899
HP:0001882HP:0001882Leukopenia4FANCD2 CL E G H217784ORPHA1644293585613984
HP:0001882HP:0001882Leukopenia4FANCE CL E G H217884ORPHA1172013586613976
HP:0001882HP:0001882Leukopenia4FANCF CL E G H218884ORPHA1162023587613897
HP:0001882HP:0001882Leukopenia4FANCG CL E G H218984ORPHA1923253588602956
HP:0001882HP:0001882Leukopenia4FANCI CL E G H5521584ORPHA14552125568611360
HP:0001882HP:0001882Leukopenia4FANCL CL E G H5512084ORPHA12417620748608111
HP:0001882HP:0001882Leukopenia4FANCM CL E G H5769784ORPHA15369723168609644
HP:0001882HP:0001882Leukopenia4HLA-DRB1 CL E G H3123797ORPHA126194948142857
HP:0001882HP:0001882Leukopenia4IVD CL E G H3712243500Isovaleryl-CoA dehydrogenase deficiency243500C0268575OMIM1922586186607036
HP:0001882HP:0001882Leukopenia4LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0001882HP:0001882Leukopenia4MAD2L2 CL E G H1045984ORPHA11546764604094
HP:0001882HP:0001882Leukopenia4MMUT CL E G H4594251000Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency251000C1855114OMIM14407526609058
HP:0001882HP:0001882Leukopenia4MYSM1 CL E G H114803618116BONE MARROW FAILURE SYNDROME 4618116CN253834OMIM132629401612176
HP:0001882HP:0001882Leukopenia4PALB2 CL E G H7972884ORPHA1417350326144610355
HP:0001882HP:0001882Leukopenia4PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM11842359360170280
HP:0001882HP:0001882Leukopenia4RAD51 CL E G H588884ORPHA116369817179617
HP:0001882HP:0001882Leukopenia4RAD51C CL E G H588984ORPHA113111309820602774
HP:0001882HP:0001882Leukopenia4RFWD3 CL E G H5515984ORPHA124925539614151
HP:0001882HP:0001882Leukopenia4RPL35A CL E G H6165612528Diamond-Blackfan anemia 5612528C2675859OMIM1148210345180468
HP:0001882HP:0001882Leukopenia4RTEL1 CL E G H51750615190Dyskeratosis congenita, autosomal recessive, 5615190C3554656OMIM15468415888608833
HP:0001882HP:0001882Leukopenia4SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM1513717697612804
HP:0001882HP:0001882Leukopenia4SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM12316630521611672
HP:0001882HP:0001882Leukopenia4SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16725211065603593
HP:0001882HP:0001882Leukopenia4SLX4 CL E G H8446484ORPHA17281823845613278
HP:0001882HP:0001882Leukopenia4TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM14216511824604319
HP:0001882HP:0001882Leukopenia4TMEM173 CL E G H340061615934Sting-associated vasculopathy, infantile-onset615934C4014722OMIM11527962612374
HP:0001882HP:0001882Leukopenia4UBE2T CL E G H2908984ORPHA171825009610538
HP:0001882HP:0001882Leukopenia4VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0001882HP:0001882Leukopenia4VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM1410214579610035
HP:0001882HP:0001882Leukopenia4XRCC2 CL E G H751684ORPHA12335812829600375
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001882HP:0001882Leukopenia0ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM0552161839607575
HP:0001882HP:0001882Leukopenia0ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA0710329216610911
HP:0001882HP:0001882Leukopenia0DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA019492910605185
HP:0001882HP:0001882Leukopenia0DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA02221919189614194
HP:0001882HP:0001882Leukopenia0EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA095128526614789
HP:0001882HP:0001882Leukopenia0GBA CL E G H262977259ORPHA04942064177606463
HP:0001882HP:0001882Leukopenia0NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA012414777881190198
HP:0001882HP:0001882Leukopenia0RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA010735724147183
HP:0001882HP:0001882Leukopenia0SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM027881348610456
HP:0001882HP:0001882Leukopenia0SCARB2 CL E G H95077259ORPHA0272291665602257
HP:0001882HP:0001882Leukopenia0TBXAS1 CL E G H6916231095Ghosal syndrome231095C1856465OMIM0139111609274180
HP:0001882HP:0001882Leukopenia0TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA0354711766190180
HP:0001882HP:0001882Leukopenia1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM0552161839607575
HP:0001882HP:0001882Leukopenia1ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA0710329216610911
HP:0001882HP:0001882Leukopenia1DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA019492910605185
HP:0001882HP:0001882Leukopenia1DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA02221919189614194
HP:0001882HP:0001882Leukopenia1EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA095128526614789
HP:0001882HP:0001882Leukopenia1GBA CL E G H262977259ORPHA04942064177606463
HP:0001882HP:0001882Leukopenia1NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA012414777881190198
HP:0001882HP:0001882Leukopenia1RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA010735724147183
HP:0001882HP:0001882Leukopenia1SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM027881348610456
HP:0001882HP:0001882Leukopenia1SCARB2 CL E G H95077259ORPHA0272291665602257
HP:0001882HP:0001882Leukopenia1TBXAS1 CL E G H6916231095Ghosal syndrome231095C1856465OMIM0139111609274180
HP:0001882HP:0001882Leukopenia1TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA0354711766190180
HP:0001882HP:0001882Leukopenia2ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM0552161839607575
HP:0001882HP:0001882Leukopenia2ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA0710329216610911
HP:0001882HP:0001882Leukopenia2DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA019492910605185
HP:0001882HP:0001882Leukopenia2DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA02221919189614194
HP:0001882HP:0001882Leukopenia2EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA095128526614789
HP:0001882HP:0001882Leukopenia2GBA CL E G H262977259ORPHA04942064177606463
HP:0001882HP:0001882Leukopenia2NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA012414777881190198
HP:0001882HP:0001882Leukopenia2RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA010735724147183
HP:0001882HP:0001882Leukopenia2SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM027881348610456
HP:0001882HP:0001882Leukopenia2SCARB2 CL E G H95077259ORPHA0272291665602257
HP:0001882HP:0001882Leukopenia2TBXAS1 CL E G H6916231095Ghosal syndrome231095C1856465OMIM0139111609274180
HP:0001882HP:0001882Leukopenia2TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA0354711766190180
HP:0001882HP:0001882Leukopenia3ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM0552161839607575
HP:0001882HP:0001882Leukopenia3ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA0710329216610911
HP:0001882HP:0001882Leukopenia3DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA019492910605185
HP:0001882HP:0001882Leukopenia3DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA02221919189614194
HP:0001882HP:0001882Leukopenia3EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA095128526614789
HP:0001882HP:0001882Leukopenia3GBA CL E G H262977259ORPHA04942064177606463
HP:0001882HP:0001882Leukopenia3NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA012414777881190198
HP:0001882HP:0001882Leukopenia3RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA010735724147183
HP:0001882HP:0001882Leukopenia3SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM027881348610456
HP:0001882HP:0001882Leukopenia3SCARB2 CL E G H95077259ORPHA0272291665602257
HP:0001882HP:0001882Leukopenia3TBXAS1 CL E G H6916231095Ghosal syndrome231095C1856465OMIM0139111609274180
HP:0001882HP:0001882Leukopenia3TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA0354711766190180
HP:0001882HP:0001882Leukopenia4ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM0552161839607575
HP:0001882HP:0001882Leukopenia4ARHGAP31 CL E G H57514974Brachydactyly small stature face anomaliesORPHA0710329216610911
HP:0001882HP:0001882Leukopenia4DLL4 CL E G H54567974Brachydactyly small stature face anomaliesORPHA019492910605185
HP:0001882HP:0001882Leukopenia4DOCK6 CL E G H57572974Brachydactyly small stature face anomaliesORPHA02221919189614194
HP:0001882HP:0001882Leukopenia4EOGT CL E G H285203974Brachydactyly small stature face anomaliesORPHA095128526614789
HP:0001882HP:0001882Leukopenia4GBA CL E G H262977259ORPHA04942064177606463
HP:0001882HP:0001882Leukopenia4NOTCH1 CL E G H4851974Brachydactyly small stature face anomaliesORPHA012414777881190198
HP:0001882HP:0001882Leukopenia4RBPJ CL E G H3516974Brachydactyly small stature face anomaliesORPHA010735724147183
HP:0001882HP:0001882Leukopenia4SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM027881348610456
HP:0001882HP:0001882Leukopenia4SCARB2 CL E G H95077259ORPHA0272291665602257
HP:0001882HP:0001882Leukopenia4TBXAS1 CL E G H6916231095Ghosal syndrome231095C1856465OMIM0139111609274180
HP:0001882HP:0001882Leukopenia4TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA0354711766190180


Genes (137) :ACP5 ADA ADA2 ADAMTS3 AK2 ARHGAP31 ATM ATP6AP1 BCL11B BLOC1S6 BRCA1 BRCA2 BRIP1 BTNL2 CCBE1 CD19 CD247 CD3D CD3E CD3G CD81 CD8A CDCA7 CHD7 CORO1A CR2 CTLA4 CTPS1 DCLRE1C DKC1 DLL4 DNMT3B DOCK2 DOCK6 DOCK8 EOGT EPG5 ERCC4 ERCC6L2 EXTL3 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAT4 FOXN1 G6PC3 GATA2 GBA GFI1 HELLS HLA-DRB1 ICOS IGHM IKZF1 IL2RA IL2RG IL7R IVD LCK LEP LEPR LYST MAD2L2 MAGT1 MMUT MS4A1 MSN MTHFD1 MYC MYSM1 NBN NFKB1 NFKB2 NHEJ1 NOTCH1 PALB2 PGM3 PIK3CD PIK3R1 PNP PRF1 PRKCD PSMB4 PSMB9 PTEN PTPRC RAD51 RAD51C RAG1 RAG2 RBPJ RFWD3 RMRP RPL35A RTEL1 SAMD9 SARS2 SCARB2 SEMA3E SLC46A1 SLC7A7 SLX4 SMARCAL1 SP110 STAT1 STK4 TBXAS1 TCF3 TCN2 TERC TERT TFR2 TGFB1 TINF2 TMEM173 TNFAIP3 TNFRSF13B TNFRSF13C TNFSF12 TPP2 TRNT1 UBE2T UNC119 VPS13B VPS45 WAS WIPF1 XRCC2 XRCC4 ZBTB24

Diseases (102) :615688 33355 974 300972 614171 84 797 305000 615715 77259 243500 214500 251000 618116 603553 612528 615190 617053 613845 229050 222700 231095 1328 613990 615934 216550 615285 2136 267500 100 617237 1572 615617 615615 2268 214800 615401 616100 615897 616433 617425 612541 614172 300988 617780 615816 616005 613179 617591 158350 605309 250250 1830 242900 614162 614868 859 127550 604250 616744 444463 616084 615518 906 301000 616541 607944 277 102700 610163 242860 217390 169095 613107 607594 601495 616873 606367 608971 251260 169079 615513 231154 233650 601457 79124 391487 616941 208900 615607 603554 242840 601705 312863 615758 66628 179494 300853 543 293978 614493 608957
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.