Human Phenotype Ontology 
Grandparent Node:
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Abnormal leukocyte count (HP:0011893)help
Grandparent Node:
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Abnormality of neutrophils (HP:0001874)help
Parent Node:
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Abnormal neutrophil count (HP:0011991)help
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Neutropenia (HP:0001875)help
Term ID: 1875
Name: Neutropenia
Synonym: Low blood neutrophil count; Low neutrophil count; Neutropoenia; Peripheral neutropenia
Definition: An abnormally low number of neutrophils in the peripheral blood.
Comments:
Reference: HP:0001875
Genes and Diseases:
 
       Child Nodes:
........expandAutoimmune neutropenia (HP:0001904) help
........expandCongenital neutropenia (HP:0005549) help
........expandCyclic neutropenia (HP:0040289) help

 Sister Nodes: 
..expandNeutrophilia (HP:0011897) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001875HP:0001875Neutropenia0ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM140268603214
HP:0001875HP:0001875Neutropenia0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001875HP:0001875Neutropenia0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1677566603401
HP:0001875HP:0001875Neutropenia0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001875HP:0001875Neutropenia0ATRX CL E G H546231401ORPHA11925886300032
HP:0001875HP:0001875Neutropenia0BLNK CL E G H29760613502Agammaglobulinemia 4, autosomal recessive613502C3150752OMIM129614211604515
HP:0001875HP:0001875Neutropenia0BTK CL E G H69547ORPHA16751133300300
HP:0001875HP:0001875Neutropenia0CD40 CL E G H958606843Immunodeficiency with hyper IgM type 3606843C1720957OMIM117411919109535
HP:0001875HP:0001875Neutropenia0CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM138711935300386
HP:0001875HP:0001875Neutropenia0CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM113887067600005
HP:0001875HP:0001875Neutropenia0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001875HP:0001875Neutropenia0CSF3R CL E G H1441617014Neutropenia, severe congenital, 7, autosomal recessive617014C4310764OMIM15052439138971
HP:0001875HP:0001875Neutropenia0CXCR4 CL E G H7852193670Warts, hypogammaglobulinemia, infections, and myelokathexis193670C0472817OMIM11542561162643
HP:0001875HP:0001875Neutropenia0DNAJC21 CL E G H134218811Balo diseaseORPHA133727030617048
HP:0001875HP:0001875Neutropenia0DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM133727030617048
HP:0001875HP:0001875Neutropenia0EFL1 CL E G H79631811Balo diseaseORPHA139425789617538
HP:0001875HP:0001875Neutropenia0EFL1 CL E G H79631617941SHWACHMAN-DIAMOND SYNDROME 2617941CN244554OMIM139425789617538
HP:0001875HP:0001875Neutropenia0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001875HP:0001875Neutropenia0ELANE CL E G H1991162800Cyclical neutropenia162800C0221023OMIM15123309130130
HP:0001875HP:0001875Neutropenia0ELANE CL E G H19912686Hing Torack Dowston syndromeORPHA15123309130130
HP:0001875HP:0001875Neutropenia0ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM15123309130130
HP:0001875HP:0001875Neutropenia0FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM143963582607139
HP:0001875HP:0001875Neutropenia0FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM117433584613899
HP:0001875HP:0001875Neutropenia0FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM112623585613984
HP:0001875HP:0001875Neutropenia0FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM15273586613976
HP:0001875HP:0001875Neutropenia0FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM17903588602956
HP:0001875HP:0001875Neutropenia0FMO3 CL E G H2328602079Trimethylaminuria602079C0342739OMIM11333771136132
HP:0001875HP:0001875Neutropenia0G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM126424861611045
HP:0001875HP:0001875Neutropenia0GATA1 CL E G H2623300835Anemia without thromobocytopenia, X-linked300835C3151785OMIM14134170305371
HP:0001875HP:0001875Neutropenia0GATA2 CL E G H2624614172Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency614172C3280030OMIM113144171137295
HP:0001875HP:0001875Neutropenia0GFI1 CL E G H2672607847Neutropenia, nonimmune chronic idiopathic, of adults607847C1842930OMIM12434237600871
HP:0001875HP:0001875Neutropenia0GFI1 CL E G H2672613107Severe congenital neutropenia 2, autosomal dominant613107C2751288OMIM12434237600871
HP:0001875HP:0001875Neutropenia0GINS1 CL E G H9837617827IMMUNODEFICIENCY 55617827CN737162OMIM113628980610608
HP:0001875HP:0001875Neutropenia0GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM12114624601002
HP:0001875HP:0001875Neutropenia0HAX1 CL E G H10456610738Severe congenital neutropenia 3, autosomal recessive610738CN032247OMIM132316915605998
HP:0001875HP:0001875Neutropenia0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001875HP:0001875Neutropenia0IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1835541147020
HP:0001875HP:0001875Neutropenia0IRAK4 CL E G H5113570592ORPHA131217967606883
HP:0001875HP:0001875Neutropenia0JAGN1 CL E G H84522616022Severe congenital neutropenia 6, autosomal recessive616022C4014954OMIM117826926616012
HP:0001875HP:0001875Neutropenia0KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM14806407190070
HP:0001875HP:0001875Neutropenia0LAMTOR2 CL E G H2895690023ORPHA16529796610389
HP:0001875HP:0001875Neutropenia0LAMTOR2 CL E G H28956610798Immunodeficiency due to defect in mapbp-interacting protein610798C1835829OMIM16529796610389
HP:0001875HP:0001875Neutropenia0LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001875HP:0001875Neutropenia0LYST CL E G H1130167ORPHA125751968606897
HP:0001875HP:0001875Neutropenia0MAD2L2 CL E G H10459617243Fanconi anemia, complementation group V617243C4310652OMIM11216764604094
HP:0001875HP:0001875Neutropenia0MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM12603498165215
HP:0001875HP:0001875Neutropenia0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001875HP:0001875Neutropenia0MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001875HP:0001875Neutropenia0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001875HP:0001875Neutropenia0MSN CL E G H4478300988Immunodeficiency 50300988C4310812OMIM12647373309845
HP:0001875HP:0001875Neutropenia0NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM12817989164790
HP:0001875HP:0001875Neutropenia0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001875HP:0001875Neutropenia0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001875HP:0001875Neutropenia0PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0001875HP:0001875Neutropenia0PIK3R1 CL E G H5295615214Agammaglobulinemia 7, autosomal recessive615214C3554689OMIM14578979171833
HP:0001875HP:0001875Neutropenia0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001875HP:0001875Neutropenia0RAB27A CL E G H587379477ORPHA12989766603868
HP:0001875HP:0001875Neutropenia0RFX5 CL E G H5993209920Bare lymphocyte syndrome 2209920C2931418OMIM13509986601863
HP:0001875HP:0001875Neutropenia0RFXANK CL E G H8625209920Bare lymphocyte syndrome 2209920C2931418OMIM12419987603200
HP:0001875HP:0001875Neutropenia0RFXAP CL E G H5994209920Bare lymphocyte syndrome 2209920C2931418OMIM12199988601861
HP:0001875HP:0001875Neutropenia0RMRP CL E G H6023175ORPHA180210031157660
HP:0001875HP:0001875Neutropenia0RMRP CL E G H6023250250Metaphyseal chondrodysplasia, McKusick type250250C0220748OMIM180210031157660
HP:0001875HP:0001875Neutropenia0RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM115410301604175
HP:0001875HP:0001875Neutropenia0RPL26 CL E G H6154614900Diamond-Blackfan anemia 11614900C3554042OMIM18710327603704
HP:0001875HP:0001875Neutropenia0RPS17 CL E G H6218612527Diamond-Blackfan anemia 4612527C2675860OMIM14710397180472
HP:0001875HP:0001875Neutropenia0RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM121410402603474
HP:0001875HP:0001875Neutropenia0RPS7 CL E G H6201612563Diamond-Blackfan anemia 8612563C2675511OMIM118710440603658
HP:0001875HP:0001875Neutropenia0SBDS CL E G H51119811Balo diseaseORPHA111919440607444
HP:0001875HP:0001875Neutropenia0SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM111919440607444
HP:0001875HP:0001875Neutropenia0SEC61A1 CL E G H29927617056Hyperuricemic nephropathy, familial juvenile, 4617056C4310741OMIM120118276609213
HP:0001875HP:0001875Neutropenia0SLC35A1 CL E G H10559238459ORPHA112511021605634
HP:0001875HP:0001875Neutropenia0SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001875HP:0001875Neutropenia0SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM19034061602671
HP:0001875HP:0001875Neutropenia0SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001875HP:0001875Neutropenia0SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM194211102606622
HP:0001875HP:0001875Neutropenia0SRP54 CL E G H6729811Balo diseaseORPHA120411301604857
HP:0001875HP:0001875Neutropenia0SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM120411301604857
HP:0001875HP:0001875Neutropenia0STK4 CL E G H6789614868T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations614868C3553943OMIM119511408604965
HP:0001875HP:0001875Neutropenia0TCN2 CL E G H6948859ORPHA151911653613441
HP:0001875HP:0001875Neutropenia0TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM151911653613441
HP:0001875HP:0001875Neutropenia0TFR2 CL E G H7036604250Hemochromatosis type 3604250C1858664OMIM168711762604720
HP:0001875HP:0001875Neutropenia0TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM150211763190010
HP:0001875HP:0001875Neutropenia0USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM128225792613276
HP:0001875HP:0001875Neutropenia0VPS13B CL E G H157680193ORPHA148762183607817
HP:0001875HP:0001875Neutropenia0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM148762183607817
HP:0001875HP:0001875Neutropenia0VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM145214579610035
HP:0001875HP:0001875Neutropenia0WAS CL E G H745486788ORPHA160312731300392
HP:0001875HP:0001875Neutropenia0WAS CL E G H7454300299Severe congenital neutropenia X-linked300299C1845987OMIM160312731300392
HP:0001875HP:0040289Cyclic neutropenia1ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM140268603214
HP:0001875HP:0410252Chronic neutropenia1ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM140268603214
HP:0001875HP:0410255Transient neutropenia1ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM140268603214
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM140268603214
HP:0001875HP:0410252Chronic neutropenia1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001875HP:0410255Transient neutropenia1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001875HP:0040289Cyclic neutropenia1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1677566603401
HP:0001875HP:0040289Cyclic neutropenia1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1677566603401
HP:0001875HP:0410255Transient neutropenia1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1677566603401
HP:0001875HP:0410252Chronic neutropenia1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1677566603401
HP:0001875HP:0040289Cyclic neutropenia1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001875HP:0410252Chronic neutropenia1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001875HP:0410255Transient neutropenia1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001875HP:0040289Cyclic neutropenia1ATRX CL E G H546231401ORPHA11925886300032
HP:0001875HP:0410252Chronic neutropenia1ATRX CL E G H546231401ORPHA11925886300032
HP:0001875HP:0410255Transient neutropenia1ATRX CL E G H546231401ORPHA11925886300032
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1ATRX CL E G H546231401ORPHA11925886300032
HP:0001875HP:0410252Chronic neutropenia1BLNK CL E G H29760613502Agammaglobulinemia 4, autosomal recessive613502C3150752OMIM129614211604515
HP:0001875HP:0410255Transient neutropenia1BLNK CL E G H29760613502Agammaglobulinemia 4, autosomal recessive613502C3150752OMIM129614211604515
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1BLNK CL E G H29760613502Agammaglobulinemia 4, autosomal recessive613502C3150752OMIM129614211604515
HP:0001875HP:0040289Cyclic neutropenia1BLNK CL E G H29760613502Agammaglobulinemia 4, autosomal recessive613502C3150752OMIM129614211604515
HP:0001875HP:0040289Cyclic neutropenia1BTK CL E G H69547ORPHA16751133300300
HP:0001875HP:0410252Chronic neutropenia1BTK CL E G H69547ORPHA16751133300300
HP:0001875HP:0410255Transient neutropenia1BTK CL E G H69547ORPHA16751133300300
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1BTK CL E G H69547ORPHA16751133300300
HP:0001875HP:0040289Cyclic neutropenia1CD40 CL E G H958606843Immunodeficiency with hyper IgM type 3606843C1720957OMIM117411919109535
HP:0001875HP:0410252Chronic neutropenia1CD40 CL E G H958606843Immunodeficiency with hyper IgM type 3606843C1720957OMIM117411919109535
HP:0001875HP:0410255Transient neutropenia1CD40 CL E G H958606843Immunodeficiency with hyper IgM type 3606843C1720957OMIM117411919109535
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1CD40 CL E G H958606843Immunodeficiency with hyper IgM type 3606843C1720957OMIM117411919109535
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM138711935300386
HP:0001875HP:0040289Cyclic neutropenia1CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM138711935300386
HP:0001875HP:0410252Chronic neutropenia1CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM138711935300386
HP:0001875HP:0410255Transient neutropenia1CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM138711935300386
HP:0001875HP:0040289Cyclic neutropenia1CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM113887067600005
HP:0001875HP:0410252Chronic neutropenia1CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM113887067600005
HP:0001875HP:0410255Transient neutropenia1CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM113887067600005
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM113887067600005
HP:0001875HP:0040289Cyclic neutropenia1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001875HP:0410252Chronic neutropenia1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001875HP:0410255Transient neutropenia1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001875HP:0040289Cyclic neutropenia1CSF3R CL E G H1441617014Neutropenia, severe congenital, 7, autosomal recessive617014C4310764OMIM15052439138971
HP:0001875HP:0410252Chronic neutropenia1CSF3R CL E G H1441617014Neutropenia, severe congenital, 7, autosomal recessive617014C4310764OMIM15052439138971
HP:0001875HP:0410255Transient neutropenia1CSF3R CL E G H1441617014Neutropenia, severe congenital, 7, autosomal recessive617014C4310764OMIM15052439138971
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1CSF3R CL E G H1441617014Neutropenia, severe congenital, 7, autosomal recessive617014C4310764OMIM15052439138971
HP:0001875HP:0040289Cyclic neutropenia1CXCR4 CL E G H7852193670Warts, hypogammaglobulinemia, infections, and myelokathexis193670C0472817OMIM11542561162643
HP:0001875HP:0410252Chronic neutropenia1CXCR4 CL E G H7852193670Warts, hypogammaglobulinemia, infections, and myelokathexis193670C0472817OMIM11542561162643
HP:0001875HP:0410255Transient neutropenia1CXCR4 CL E G H7852193670Warts, hypogammaglobulinemia, infections, and myelokathexis193670C0472817OMIM11542561162643
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1CXCR4 CL E G H7852193670Warts, hypogammaglobulinemia, infections, and myelokathexis193670C0472817OMIM11542561162643
HP:0001875HP:0040289Cyclic neutropenia1DNAJC21 CL E G H134218811Balo diseaseORPHA133727030617048
HP:0001875HP:0410252Chronic neutropenia1DNAJC21 CL E G H134218811Balo diseaseORPHA133727030617048
HP:0001875HP:0410255Transient neutropenia1DNAJC21 CL E G H134218811Balo diseaseORPHA133727030617048
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1DNAJC21 CL E G H134218811Balo diseaseORPHA133727030617048
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM133727030617048
HP:0001875HP:0040289Cyclic neutropenia1DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM133727030617048
HP:0001875HP:0410255Transient neutropenia1DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM133727030617048
HP:0001875HP:0410252Chronic neutropenia1DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM133727030617048
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1EFL1 CL E G H79631811Balo diseaseORPHA139425789617538
HP:0001875HP:0040289Cyclic neutropenia1EFL1 CL E G H79631811Balo diseaseORPHA139425789617538
HP:0001875HP:0410252Chronic neutropenia1EFL1 CL E G H79631811Balo diseaseORPHA139425789617538
HP:0001875HP:0410255Transient neutropenia1EFL1 CL E G H79631811Balo diseaseORPHA139425789617538
HP:0001875HP:0410255Transient neutropenia1EFL1 CL E G H79631617941SHWACHMAN-DIAMOND SYNDROME 2617941CN244554OMIM139425789617538
HP:0001875HP:0410252Chronic neutropenia1EFL1 CL E G H79631617941SHWACHMAN-DIAMOND SYNDROME 2617941CN244554OMIM139425789617538
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1EFL1 CL E G H79631617941SHWACHMAN-DIAMOND SYNDROME 2617941CN244554OMIM139425789617538
HP:0001875HP:0040289Cyclic neutropenia1EFL1 CL E G H79631617941SHWACHMAN-DIAMOND SYNDROME 2617941CN244554OMIM139425789617538
HP:0001875HP:0040289Cyclic neutropenia1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001875HP:0410252Chronic neutropenia1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001875HP:0410255Transient neutropenia1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001875HP:0410252Chronic neutropenia1ELANE CL E G H1991162800Cyclical neutropenia162800C0221023OMIM15123309130130
HP:0001875HP:0410255Transient neutropenia1ELANE CL E G H1991162800Cyclical neutropenia162800C0221023OMIM15123309130130
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1ELANE CL E G H1991162800Cyclical neutropenia162800C0221023OMIM15123309130130
HP:0001875HP:0040289Cyclic neutropenia1ELANE CL E G H1991162800Cyclical neutropenia162800C0221023OMIM15123309130130
HP:0001875HP:0040289Cyclic neutropenia1ELANE CL E G H19912686Hing Torack Dowston syndromeORPHA15123309130130
HP:0001875HP:0410252Chronic neutropenia1ELANE CL E G H19912686Hing Torack Dowston syndromeORPHA15123309130130
HP:0001875HP:0410255Transient neutropenia1ELANE CL E G H19912686Hing Torack Dowston syndromeORPHA15123309130130
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1ELANE CL E G H19912686Hing Torack Dowston syndromeORPHA15123309130130
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM15123309130130
HP:0001875HP:0040289Cyclic neutropenia1ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM15123309130130
HP:0001875HP:0410255Transient neutropenia1ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM15123309130130
HP:0001875HP:0410252Chronic neutropenia1ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM15123309130130
HP:0001875HP:0410252Chronic neutropenia1FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM143963582607139
HP:0001875HP:0410255Transient neutropenia1FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM143963582607139
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM143963582607139
HP:0001875HP:0040289Cyclic neutropenia1FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM143963582607139
HP:0001875HP:0040289Cyclic neutropenia1FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM117433584613899
HP:0001875HP:0410252Chronic neutropenia1FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM117433584613899
HP:0001875HP:0410255Transient neutropenia1FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM117433584613899
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM117433584613899
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM112623585613984
HP:0001875HP:0040289Cyclic neutropenia1FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM112623585613984
HP:0001875HP:0410255Transient neutropenia1FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM112623585613984
HP:0001875HP:0410252Chronic neutropenia1FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM112623585613984
HP:0001875HP:0410252Chronic neutropenia1FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM15273586613976
HP:0001875HP:0410255Transient neutropenia1FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM15273586613976
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM15273586613976
HP:0001875HP:0040289Cyclic neutropenia1FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM15273586613976
HP:0001875HP:0040289Cyclic neutropenia1FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM17903588602956
HP:0001875HP:0410252Chronic neutropenia1FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM17903588602956
HP:0001875HP:0410255Transient neutropenia1FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM17903588602956
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM17903588602956
HP:0001875HP:0040289Cyclic neutropenia1FMO3 CL E G H2328602079Trimethylaminuria602079C0342739OMIM11333771136132
HP:0001875HP:0410252Chronic neutropenia1FMO3 CL E G H2328602079Trimethylaminuria602079C0342739OMIM11333771136132
HP:0001875HP:0410255Transient neutropenia1FMO3 CL E G H2328602079Trimethylaminuria602079C0342739OMIM11333771136132
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1FMO3 CL E G H2328602079Trimethylaminuria602079C0342739OMIM11333771136132
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM126424861611045
HP:0001875HP:0040289Cyclic neutropenia1G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM126424861611045
HP:0001875HP:0410252Chronic neutropenia1G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM126424861611045
HP:0001875HP:0410255Transient neutropenia1G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM126424861611045
HP:0001875HP:0410252Chronic neutropenia1GATA1 CL E G H2623300835Anemia without thromobocytopenia, X-linked300835C3151785OMIM14134170305371
HP:0001875HP:0410255Transient neutropenia1GATA1 CL E G H2623300835Anemia without thromobocytopenia, X-linked300835C3151785OMIM14134170305371
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1GATA1 CL E G H2623300835Anemia without thromobocytopenia, X-linked300835C3151785OMIM14134170305371
HP:0001875HP:0040289Cyclic neutropenia1GATA1 CL E G H2623300835Anemia without thromobocytopenia, X-linked300835C3151785OMIM14134170305371
HP:0001875HP:0040289Cyclic neutropenia1GATA2 CL E G H2624614172Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency614172C3280030OMIM113144171137295
HP:0001875HP:0410255Transient neutropenia1GATA2 CL E G H2624614172Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency614172C3280030OMIM113144171137295
HP:0001875HP:0410252Chronic neutropenia1GATA2 CL E G H2624614172Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency614172C3280030OMIM113144171137295
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1GATA2 CL E G H2624614172Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency614172C3280030OMIM113144171137295
HP:0001875HP:0040289Cyclic neutropenia1GFI1 CL E G H2672607847Neutropenia, nonimmune chronic idiopathic, of adults607847C1842930OMIM12434237600871
HP:0001875HP:0410252Chronic neutropenia1GFI1 CL E G H2672607847Neutropenia, nonimmune chronic idiopathic, of adults607847C1842930OMIM12434237600871
HP:0001875HP:0410255Transient neutropenia1GFI1 CL E G H2672607847Neutropenia, nonimmune chronic idiopathic, of adults607847C1842930OMIM12434237600871
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1GFI1 CL E G H2672607847Neutropenia, nonimmune chronic idiopathic, of adults607847C1842930OMIM12434237600871
HP:0001875HP:0040289Cyclic neutropenia1GFI1 CL E G H2672613107Severe congenital neutropenia 2, autosomal dominant613107C2751288OMIM12434237600871
HP:0001875HP:0410252Chronic neutropenia1GFI1 CL E G H2672613107Severe congenital neutropenia 2, autosomal dominant613107C2751288OMIM12434237600871
HP:0001875HP:0410255Transient neutropenia1GFI1 CL E G H2672613107Severe congenital neutropenia 2, autosomal dominant613107C2751288OMIM12434237600871
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1GFI1 CL E G H2672613107Severe congenital neutropenia 2, autosomal dominant613107C2751288OMIM12434237600871
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1GINS1 CL E G H9837617827IMMUNODEFICIENCY 55617827CN737162OMIM113628980610608
HP:0001875HP:0040289Cyclic neutropenia1GINS1 CL E G H9837617827IMMUNODEFICIENCY 55617827CN737162OMIM113628980610608
HP:0001875HP:0410252Chronic neutropenia1GINS1 CL E G H9837617827IMMUNODEFICIENCY 55617827CN737162OMIM113628980610608
HP:0001875HP:0410255Transient neutropenia1GINS1 CL E G H9837617827IMMUNODEFICIENCY 55617827CN737162OMIM113628980610608
HP:0001875HP:0040289Cyclic neutropenia1GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM12114624601002
HP:0001875HP:0410255Transient neutropenia1GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM12114624601002
HP:0001875HP:0410252Chronic neutropenia1GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM12114624601002
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM12114624601002
HP:0001875HP:0410252Chronic neutropenia1HAX1 CL E G H10456610738Severe congenital neutropenia 3, autosomal recessive610738CN032247OMIM132316915605998
HP:0001875HP:0410255Transient neutropenia1HAX1 CL E G H10456610738Severe congenital neutropenia 3, autosomal recessive610738CN032247OMIM132316915605998
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1HAX1 CL E G H10456610738Severe congenital neutropenia 3, autosomal recessive610738CN032247OMIM132316915605998
HP:0001875HP:0040289Cyclic neutropenia1HAX1 CL E G H10456610738Severe congenital neutropenia 3, autosomal recessive610738CN032247OMIM132316915605998
HP:0001875HP:0040289Cyclic neutropenia1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001875HP:0410252Chronic neutropenia1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001875HP:0410255Transient neutropenia1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001875HP:0040289Cyclic neutropenia1IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1835541147020
HP:0001875HP:0410252Chronic neutropenia1IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1835541147020
HP:0001875HP:0410255Transient neutropenia1IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1835541147020
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1835541147020
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1IRAK4 CL E G H5113570592ORPHA131217967606883
HP:0001875HP:0040289Cyclic neutropenia1IRAK4 CL E G H5113570592ORPHA131217967606883
HP:0001875HP:0410252Chronic neutropenia1IRAK4 CL E G H5113570592ORPHA131217967606883
HP:0001875HP:0410255Transient neutropenia1IRAK4 CL E G H5113570592ORPHA131217967606883
HP:0001875HP:0040289Cyclic neutropenia1JAGN1 CL E G H84522616022Severe congenital neutropenia 6, autosomal recessive616022C4014954OMIM117826926616012
HP:0001875HP:0410252Chronic neutropenia1JAGN1 CL E G H84522616022Severe congenital neutropenia 6, autosomal recessive616022C4014954OMIM117826926616012
HP:0001875HP:0410255Transient neutropenia1JAGN1 CL E G H84522616022Severe congenital neutropenia 6, autosomal recessive616022C4014954OMIM117826926616012
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1JAGN1 CL E G H84522616022Severe congenital neutropenia 6, autosomal recessive616022C4014954OMIM117826926616012
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM14806407190070
HP:0001875HP:0040289Cyclic neutropenia1KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM14806407190070
HP:0001875HP:0410252Chronic neutropenia1KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM14806407190070
HP:0001875HP:0410255Transient neutropenia1KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM14806407190070
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1LAMTOR2 CL E G H2895690023ORPHA16529796610389
HP:0001875HP:0040289Cyclic neutropenia1LAMTOR2 CL E G H2895690023ORPHA16529796610389
HP:0001875HP:0410255Transient neutropenia1LAMTOR2 CL E G H2895690023ORPHA16529796610389
HP:0001875HP:0410252Chronic neutropenia1LAMTOR2 CL E G H2895690023ORPHA16529796610389
HP:0001875HP:0040289Cyclic neutropenia1LAMTOR2 CL E G H28956610798Immunodeficiency due to defect in mapbp-interacting protein610798C1835829OMIM16529796610389
HP:0001875HP:0410252Chronic neutropenia1LAMTOR2 CL E G H28956610798Immunodeficiency due to defect in mapbp-interacting protein610798C1835829OMIM16529796610389
HP:0001875HP:0410255Transient neutropenia1LAMTOR2 CL E G H28956610798Immunodeficiency due to defect in mapbp-interacting protein610798C1835829OMIM16529796610389
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1LAMTOR2 CL E G H28956610798Immunodeficiency due to defect in mapbp-interacting protein610798C1835829OMIM16529796610389
HP:0001875HP:0410252Chronic neutropenia1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001875HP:0410255Transient neutropenia1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001875HP:0040289Cyclic neutropenia1LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1LYST CL E G H1130167ORPHA125751968606897
HP:0001875HP:0040289Cyclic neutropenia1LYST CL E G H1130167ORPHA125751968606897
HP:0001875HP:0410255Transient neutropenia1LYST CL E G H1130167ORPHA125751968606897
HP:0001875HP:0410252Chronic neutropenia1LYST CL E G H1130167ORPHA125751968606897
HP:0001875HP:0410252Chronic neutropenia1MAD2L2 CL E G H10459617243Fanconi anemia, complementation group V617243C4310652OMIM11216764604094
HP:0001875HP:0410255Transient neutropenia1MAD2L2 CL E G H10459617243Fanconi anemia, complementation group V617243C4310652OMIM11216764604094
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1MAD2L2 CL E G H10459617243Fanconi anemia, complementation group V617243C4310652OMIM11216764604094
HP:0001875HP:0040289Cyclic neutropenia1MAD2L2 CL E G H10459617243Fanconi anemia, complementation group V617243C4310652OMIM11216764604094
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM12603498165215
HP:0001875HP:0040289Cyclic neutropenia1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM12603498165215
HP:0001875HP:0410252Chronic neutropenia1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM12603498165215
HP:0001875HP:0410255Transient neutropenia1MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM12603498165215
HP:0001875HP:0040289Cyclic neutropenia1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001875HP:0410252Chronic neutropenia1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001875HP:0410255Transient neutropenia1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001875HP:0040289Cyclic neutropenia1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001875HP:0410252Chronic neutropenia1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001875HP:0410255Transient neutropenia1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001875HP:0040289Cyclic neutropenia1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001875HP:0410252Chronic neutropenia1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001875HP:0410255Transient neutropenia1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001875HP:0040289Cyclic neutropenia1MSN CL E G H4478300988Immunodeficiency 50300988C4310812OMIM12647373309845
HP:0001875HP:0410252Chronic neutropenia1MSN CL E G H4478300988Immunodeficiency 50300988C4310812OMIM12647373309845
HP:0001875HP:0410255Transient neutropenia1MSN CL E G H4478300988Immunodeficiency 50300988C4310812OMIM12647373309845
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1MSN CL E G H4478300988Immunodeficiency 50300988C4310812OMIM12647373309845
HP:0001875HP:0410252Chronic neutropenia1NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM12817989164790
HP:0001875HP:0410255Transient neutropenia1NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM12817989164790
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM12817989164790
HP:0001875HP:0040289Cyclic neutropenia1NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM12817989164790
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001875HP:0040289Cyclic neutropenia1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001875HP:0410252Chronic neutropenia1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001875HP:0410255Transient neutropenia1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001875HP:0410252Chronic neutropenia1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001875HP:0410255Transient neutropenia1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001875HP:0040289Cyclic neutropenia1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001875HP:0410252Chronic neutropenia1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0001875HP:0410255Transient neutropenia1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0001875HP:0040289Cyclic neutropenia1PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0001875HP:0040289Cyclic neutropenia1PIK3R1 CL E G H5295615214Agammaglobulinemia 7, autosomal recessive615214C3554689OMIM14578979171833
HP:0001875HP:0410252Chronic neutropenia1PIK3R1 CL E G H5295615214Agammaglobulinemia 7, autosomal recessive615214C3554689OMIM14578979171833
HP:0001875HP:0410255Transient neutropenia1PIK3R1 CL E G H5295615214Agammaglobulinemia 7, autosomal recessive615214C3554689OMIM14578979171833
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1PIK3R1 CL E G H5295615214Agammaglobulinemia 7, autosomal recessive615214C3554689OMIM14578979171833
HP:0001875HP:0040289Cyclic neutropenia1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001875HP:0410252Chronic neutropenia1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001875HP:0410255Transient neutropenia1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001875HP:0040289Cyclic neutropenia1RAB27A CL E G H587379477ORPHA12989766603868
HP:0001875HP:0410252Chronic neutropenia1RAB27A CL E G H587379477ORPHA12989766603868
HP:0001875HP:0410255Transient neutropenia1RAB27A CL E G H587379477ORPHA12989766603868
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1RAB27A CL E G H587379477ORPHA12989766603868
HP:0001875HP:0040289Cyclic neutropenia1RFX5 CL E G H5993209920Bare lymphocyte syndrome 2209920C2931418OMIM13509986601863
HP:0001875HP:0410255Transient neutropenia1RFX5 CL E G H5993209920Bare lymphocyte syndrome 2209920C2931418OMIM13509986601863
HP:0001875HP:0410252Chronic neutropenia1RFX5 CL E G H5993209920Bare lymphocyte syndrome 2209920C2931418OMIM13509986601863
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1RFX5 CL E G H5993209920Bare lymphocyte syndrome 2209920C2931418OMIM13509986601863
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1RFXANK CL E G H8625209920Bare lymphocyte syndrome 2209920C2931418OMIM12419987603200
HP:0001875HP:0040289Cyclic neutropenia1RFXANK CL E G H8625209920Bare lymphocyte syndrome 2209920C2931418OMIM12419987603200
HP:0001875HP:0410252Chronic neutropenia1RFXANK CL E G H8625209920Bare lymphocyte syndrome 2209920C2931418OMIM12419987603200
HP:0001875HP:0410255Transient neutropenia1RFXANK CL E G H8625209920Bare lymphocyte syndrome 2209920C2931418OMIM12419987603200
HP:0001875HP:0410252Chronic neutropenia1RFXAP CL E G H5994209920Bare lymphocyte syndrome 2209920C2931418OMIM12199988601861
HP:0001875HP:0410255Transient neutropenia1RFXAP CL E G H5994209920Bare lymphocyte syndrome 2209920C2931418OMIM12199988601861
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1RFXAP CL E G H5994209920Bare lymphocyte syndrome 2209920C2931418OMIM12199988601861
HP:0001875HP:0040289Cyclic neutropenia1RFXAP CL E G H5994209920Bare lymphocyte syndrome 2209920C2931418OMIM12199988601861
HP:0001875HP:0410252Chronic neutropenia1RMRP CL E G H6023175ORPHA180210031157660
HP:0001875HP:0410255Transient neutropenia1RMRP CL E G H6023175ORPHA180210031157660
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1RMRP CL E G H6023175ORPHA180210031157660
HP:0001875HP:0040289Cyclic neutropenia1RMRP CL E G H6023175ORPHA180210031157660
HP:0001875HP:0410252Chronic neutropenia1RMRP CL E G H6023250250Metaphyseal chondrodysplasia, McKusick type250250C0220748OMIM180210031157660
HP:0001875HP:0410255Transient neutropenia1RMRP CL E G H6023250250Metaphyseal chondrodysplasia, McKusick type250250C0220748OMIM180210031157660
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1RMRP CL E G H6023250250Metaphyseal chondrodysplasia, McKusick type250250C0220748OMIM180210031157660
HP:0001875HP:0040289Cyclic neutropenia1RMRP CL E G H6023250250Metaphyseal chondrodysplasia, McKusick type250250C0220748OMIM180210031157660
HP:0001875HP:0410252Chronic neutropenia1RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM115410301604175
HP:0001875HP:0410255Transient neutropenia1RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM115410301604175
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM115410301604175
HP:0001875HP:0040289Cyclic neutropenia1RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM115410301604175
HP:0001875HP:0410252Chronic neutropenia1RPL26 CL E G H6154614900Diamond-Blackfan anemia 11614900C3554042OMIM18710327603704
HP:0001875HP:0410255Transient neutropenia1RPL26 CL E G H6154614900Diamond-Blackfan anemia 11614900C3554042OMIM18710327603704
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1RPL26 CL E G H6154614900Diamond-Blackfan anemia 11614900C3554042OMIM18710327603704
HP:0001875HP:0040289Cyclic neutropenia1RPL26 CL E G H6154614900Diamond-Blackfan anemia 11614900C3554042OMIM18710327603704
HP:0001875HP:0040289Cyclic neutropenia1RPS17 CL E G H6218612527Diamond-Blackfan anemia 4612527C2675860OMIM14710397180472
HP:0001875HP:0410255Transient neutropenia1RPS17 CL E G H6218612527Diamond-Blackfan anemia 4612527C2675860OMIM14710397180472
HP:0001875HP:0410252Chronic neutropenia1RPS17 CL E G H6218612527Diamond-Blackfan anemia 4612527C2675860OMIM14710397180472
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1RPS17 CL E G H6218612527Diamond-Blackfan anemia 4612527C2675860OMIM14710397180472
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM121410402603474
HP:0001875HP:0040289Cyclic neutropenia1RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM121410402603474
HP:0001875HP:0410252Chronic neutropenia1RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM121410402603474
HP:0001875HP:0410255Transient neutropenia1RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM121410402603474
HP:0001875HP:0040289Cyclic neutropenia1RPS7 CL E G H6201612563Diamond-Blackfan anemia 8612563C2675511OMIM118710440603658
HP:0001875HP:0410252Chronic neutropenia1RPS7 CL E G H6201612563Diamond-Blackfan anemia 8612563C2675511OMIM118710440603658
HP:0001875HP:0410255Transient neutropenia1RPS7 CL E G H6201612563Diamond-Blackfan anemia 8612563C2675511OMIM118710440603658
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1RPS7 CL E G H6201612563Diamond-Blackfan anemia 8612563C2675511OMIM118710440603658
HP:0001875HP:0410255Transient neutropenia1SBDS CL E G H51119811Balo diseaseORPHA111919440607444
HP:0001875HP:0410252Chronic neutropenia1SBDS CL E G H51119811Balo diseaseORPHA111919440607444
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1SBDS CL E G H51119811Balo diseaseORPHA111919440607444
HP:0001875HP:0040289Cyclic neutropenia1SBDS CL E G H51119811Balo diseaseORPHA111919440607444
HP:0001875HP:0410252Chronic neutropenia1SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM111919440607444
HP:0001875HP:0410255Transient neutropenia1SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM111919440607444
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM111919440607444
HP:0001875HP:0040289Cyclic neutropenia1SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM111919440607444
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1SEC61A1 CL E G H29927617056Hyperuricemic nephropathy, familial juvenile, 4617056C4310741OMIM120118276609213
HP:0001875HP:0040289Cyclic neutropenia1SEC61A1 CL E G H29927617056Hyperuricemic nephropathy, familial juvenile, 4617056C4310741OMIM120118276609213
HP:0001875HP:0410255Transient neutropenia1SEC61A1 CL E G H29927617056Hyperuricemic nephropathy, familial juvenile, 4617056C4310741OMIM120118276609213
HP:0001875HP:0410252Chronic neutropenia1SEC61A1 CL E G H29927617056Hyperuricemic nephropathy, familial juvenile, 4617056C4310741OMIM120118276609213
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1SLC35A1 CL E G H10559238459ORPHA112511021605634
HP:0001875HP:0040289Cyclic neutropenia1SLC35A1 CL E G H10559238459ORPHA112511021605634
HP:0001875HP:0410252Chronic neutropenia1SLC35A1 CL E G H10559238459ORPHA112511021605634
HP:0001875HP:0410255Transient neutropenia1SLC35A1 CL E G H10559238459ORPHA112511021605634
HP:0001875HP:0410252Chronic neutropenia1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001875HP:0410255Transient neutropenia1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001875HP:0040289Cyclic neutropenia1SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001875HP:0040289Cyclic neutropenia1SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM19034061602671
HP:0001875HP:0410255Transient neutropenia1SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM19034061602671
HP:0001875HP:0410252Chronic neutropenia1SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM19034061602671
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM19034061602671
HP:0001875HP:0040289Cyclic neutropenia1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001875HP:0410252Chronic neutropenia1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001875HP:0410255Transient neutropenia1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM194211102606622
HP:0001875HP:0040289Cyclic neutropenia1SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM194211102606622
HP:0001875HP:0410252Chronic neutropenia1SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM194211102606622
HP:0001875HP:0410255Transient neutropenia1SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM194211102606622
HP:0001875HP:0040289Cyclic neutropenia1SRP54 CL E G H6729811Balo diseaseORPHA120411301604857
HP:0001875HP:0410252Chronic neutropenia1SRP54 CL E G H6729811Balo diseaseORPHA120411301604857
HP:0001875HP:0410255Transient neutropenia1SRP54 CL E G H6729811Balo diseaseORPHA120411301604857
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1SRP54 CL E G H6729811Balo diseaseORPHA120411301604857
HP:0001875HP:0040289Cyclic neutropenia1SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM120411301604857
HP:0001875HP:0410252Chronic neutropenia1SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM120411301604857
HP:0001875HP:0410255Transient neutropenia1SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM120411301604857
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM120411301604857
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1STK4 CL E G H6789614868T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations614868C3553943OMIM119511408604965
HP:0001875HP:0040289Cyclic neutropenia1STK4 CL E G H6789614868T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations614868C3553943OMIM119511408604965
HP:0001875HP:0410255Transient neutropenia1STK4 CL E G H6789614868T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations614868C3553943OMIM119511408604965
HP:0001875HP:0410252Chronic neutropenia1STK4 CL E G H6789614868T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations614868C3553943OMIM119511408604965
HP:0001875HP:0040289Cyclic neutropenia1TCN2 CL E G H6948859ORPHA151911653613441
HP:0001875HP:0410252Chronic neutropenia1TCN2 CL E G H6948859ORPHA151911653613441
HP:0001875HP:0410255Transient neutropenia1TCN2 CL E G H6948859ORPHA151911653613441
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1TCN2 CL E G H6948859ORPHA151911653613441
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM151911653613441
HP:0001875HP:0040289Cyclic neutropenia1TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM151911653613441
HP:0001875HP:0410252Chronic neutropenia1TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM151911653613441
HP:0001875HP:0410255Transient neutropenia1TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM151911653613441
HP:0001875HP:0040289Cyclic neutropenia1TFR2 CL E G H7036604250Hemochromatosis type 3604250C1858664OMIM168711762604720
HP:0001875HP:0410255Transient neutropenia1TFR2 CL E G H7036604250Hemochromatosis type 3604250C1858664OMIM168711762604720
HP:0001875HP:0410252Chronic neutropenia1TFR2 CL E G H7036604250Hemochromatosis type 3604250C1858664OMIM168711762604720
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1TFR2 CL E G H7036604250Hemochromatosis type 3604250C1858664OMIM168711762604720
HP:0001875HP:0410255Transient neutropenia1TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM150211763190010
HP:0001875HP:0410252Chronic neutropenia1TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM150211763190010
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM150211763190010
HP:0001875HP:0040289Cyclic neutropenia1TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM150211763190010
HP:0001875HP:0040289Cyclic neutropenia1USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM128225792613276
HP:0001875HP:0410252Chronic neutropenia1USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM128225792613276
HP:0001875HP:0410255Transient neutropenia1USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM128225792613276
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM128225792613276
HP:0001875HP:0040289Cyclic neutropenia1VPS13B CL E G H157680193ORPHA148762183607817
HP:0001875HP:0410252Chronic neutropenia1VPS13B CL E G H157680193ORPHA148762183607817
HP:0001875HP:0410255Transient neutropenia1VPS13B CL E G H157680193ORPHA148762183607817
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1VPS13B CL E G H157680193ORPHA148762183607817
HP:0001875HP:0040289Cyclic neutropenia1VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM148762183607817
HP:0001875HP:0410252Chronic neutropenia1VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM148762183607817
HP:0001875HP:0410255Transient neutropenia1VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM148762183607817
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM148762183607817
HP:0001875HP:0040289Cyclic neutropenia1VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM145214579610035
HP:0001875HP:0410252Chronic neutropenia1VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM145214579610035
HP:0001875HP:0410255Transient neutropenia1VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM145214579610035
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM145214579610035
HP:0001875HP:0040289Cyclic neutropenia1WAS CL E G H745486788ORPHA160312731300392
HP:0001875HP:0410252Chronic neutropenia1WAS CL E G H745486788ORPHA160312731300392
HP:0001875HP:0410255Transient neutropenia1WAS CL E G H745486788ORPHA160312731300392
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1WAS CL E G H745486788ORPHA160312731300392
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1WAS CL E G H7454300299Severe congenital neutropenia X-linked300299C1845987OMIM160312731300392
HP:0001875HP:0040289Cyclic neutropenia1WAS CL E G H7454300299Severe congenital neutropenia X-linked300299C1845987OMIM160312731300392
HP:0001875HP:0410255Transient neutropenia1WAS CL E G H7454300299Severe congenital neutropenia X-linked300299C1845987OMIM160312731300392
HP:0001875HP:0410252Chronic neutropenia1WAS CL E G H7454300299Severe congenital neutropenia X-linked300299C1845987OMIM160312731300392
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM140268603214
HP:0001875HP:0410256Infection associated neutropenia2ABCD4 CL E G H5826614857METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE614857C3553915OMIM140268603214
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001875HP:0410256Infection associated neutropenia2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM1509318613228
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1677566603401
HP:0001875HP:0410256Infection associated neutropenia2AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1677566603401
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001875HP:0410256Infection associated neutropenia2AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1893568607246
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2ATRX CL E G H546231401ORPHA11925886300032
HP:0001875HP:0410256Infection associated neutropenia2ATRX CL E G H546231401ORPHA11925886300032
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2BLNK CL E G H29760613502Agammaglobulinemia 4, autosomal recessive613502C3150752OMIM129614211604515
HP:0001875HP:0410256Infection associated neutropenia2BLNK CL E G H29760613502Agammaglobulinemia 4, autosomal recessive613502C3150752OMIM129614211604515
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2BTK CL E G H69547ORPHA16751133300300
HP:0001875HP:0410256Infection associated neutropenia2BTK CL E G H69547ORPHA16751133300300
HP:0001875HP:0410256Infection associated neutropenia2CD40 CL E G H958606843Immunodeficiency with hyper IgM type 3606843C1720957OMIM117411919109535
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2CD40 CL E G H958606843Immunodeficiency with hyper IgM type 3606843C1720957OMIM117411919109535
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM138711935300386
HP:0001875HP:0410256Infection associated neutropenia2CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM138711935300386
HP:0001875HP:0410256Infection associated neutropenia2CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM113887067600005
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2CIITA CL E G H4261209920Bare lymphocyte syndrome 2209920C2931418OMIM113887067600005
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001875HP:0410256Infection associated neutropenia2CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM158530664616254
HP:0001875HP:0410256Infection associated neutropenia2CSF3R CL E G H1441617014Neutropenia, severe congenital, 7, autosomal recessive617014C4310764OMIM15052439138971
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2CSF3R CL E G H1441617014Neutropenia, severe congenital, 7, autosomal recessive617014C4310764OMIM15052439138971
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2CXCR4 CL E G H7852193670Warts, hypogammaglobulinemia, infections, and myelokathexis193670C0472817OMIM11542561162643
HP:0001875HP:0410256Infection associated neutropenia2CXCR4 CL E G H7852193670Warts, hypogammaglobulinemia, infections, and myelokathexis193670C0472817OMIM11542561162643
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2DNAJC21 CL E G H134218811Balo diseaseORPHA133727030617048
HP:0001875HP:0410256Infection associated neutropenia2DNAJC21 CL E G H134218811Balo diseaseORPHA133727030617048
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM133727030617048
HP:0001875HP:0410256Infection associated neutropenia2DNAJC21 CL E G H134218260400Shwachman syndrome260400C0272170OMIM133727030617048
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2EFL1 CL E G H79631811Balo diseaseORPHA139425789617538
HP:0001875HP:0410256Infection associated neutropenia2EFL1 CL E G H79631811Balo diseaseORPHA139425789617538
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2EFL1 CL E G H79631617941SHWACHMAN-DIAMOND SYNDROME 2617941CN244554OMIM139425789617538
HP:0001875HP:0410256Infection associated neutropenia2EFL1 CL E G H79631617941SHWACHMAN-DIAMOND SYNDROME 2617941CN244554OMIM139425789617538
HP:0001875HP:0410256Infection associated neutropenia2EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA15203255604032
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2ELANE CL E G H1991162800Cyclical neutropenia162800C0221023OMIM15123309130130
HP:0001875HP:0410256Infection associated neutropenia2ELANE CL E G H1991162800Cyclical neutropenia162800C0221023OMIM15123309130130
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2ELANE CL E G H19912686Hing Torack Dowston syndromeORPHA15123309130130
HP:0001875HP:0410256Infection associated neutropenia2ELANE CL E G H19912686Hing Torack Dowston syndromeORPHA15123309130130
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM15123309130130
HP:0001875HP:0410256Infection associated neutropenia2ELANE CL E G H1991202700Severe congenital neutropenia autosomal dominant202700C1859966OMIM15123309130130
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM143963582607139
HP:0001875HP:0410256Infection associated neutropenia2FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM143963582607139
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM117433584613899
HP:0001875HP:0410256Infection associated neutropenia2FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM117433584613899
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM112623585613984
HP:0001875HP:0410256Infection associated neutropenia2FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM112623585613984
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM15273586613976
HP:0001875HP:0410256Infection associated neutropenia2FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM15273586613976
HP:0001875HP:0410256Infection associated neutropenia2FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM17903588602956
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM17903588602956
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2FMO3 CL E G H2328602079Trimethylaminuria602079C0342739OMIM11333771136132
HP:0001875HP:0410256Infection associated neutropenia2FMO3 CL E G H2328602079Trimethylaminuria602079C0342739OMIM11333771136132
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM126424861611045
HP:0001875HP:0410256Infection associated neutropenia2G6PC3 CL E G H92579612541Severe congenital neutropenia 4, autosomal recessive612541C2675526OMIM126424861611045
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2GATA1 CL E G H2623300835Anemia without thromobocytopenia, X-linked300835C3151785OMIM14134170305371
HP:0001875HP:0410256Infection associated neutropenia2GATA1 CL E G H2623300835Anemia without thromobocytopenia, X-linked300835C3151785OMIM14134170305371
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2GATA2 CL E G H2624614172Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency614172C3280030OMIM113144171137295
HP:0001875HP:0410256Infection associated neutropenia2GATA2 CL E G H2624614172Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency614172C3280030OMIM113144171137295
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2GFI1 CL E G H2672607847Neutropenia, nonimmune chronic idiopathic, of adults607847C1842930OMIM12434237600871
HP:0001875HP:0410256Infection associated neutropenia2GFI1 CL E G H2672607847Neutropenia, nonimmune chronic idiopathic, of adults607847C1842930OMIM12434237600871
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2GFI1 CL E G H2672613107Severe congenital neutropenia 2, autosomal dominant613107C2751288OMIM12434237600871
HP:0001875HP:0410256Infection associated neutropenia2GFI1 CL E G H2672613107Severe congenital neutropenia 2, autosomal dominant613107C2751288OMIM12434237600871
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2GINS1 CL E G H9837617827IMMUNODEFICIENCY 55617827CN737162OMIM113628980610608
HP:0001875HP:0410256Infection associated neutropenia2GINS1 CL E G H9837617827IMMUNODEFICIENCY 55617827CN737162OMIM113628980610608
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM12114624601002
HP:0001875HP:0410256Infection associated neutropenia2GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM12114624601002
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2HAX1 CL E G H10456610738Severe congenital neutropenia 3, autosomal recessive610738CN032247OMIM132316915605998
HP:0001875HP:0410256Infection associated neutropenia2HAX1 CL E G H10456610738Severe congenital neutropenia 3, autosomal recessive610738CN032247OMIM132316915605998
HP:0001875HP:0410256Infection associated neutropenia2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM124414348606441
HP:0001875HP:0410256Infection associated neutropenia2IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1835541147020
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1835541147020
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2IRAK4 CL E G H5113570592ORPHA131217967606883
HP:0001875HP:0410256Infection associated neutropenia2IRAK4 CL E G H5113570592ORPHA131217967606883
HP:0001875HP:0410256Infection associated neutropenia2JAGN1 CL E G H84522616022Severe congenital neutropenia 6, autosomal recessive616022C4014954OMIM117826926616012
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2JAGN1 CL E G H84522616022Severe congenital neutropenia 6, autosomal recessive616022C4014954OMIM117826926616012
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM14806407190070
HP:0001875HP:0410256Infection associated neutropenia2KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM14806407190070
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2LAMTOR2 CL E G H2895690023ORPHA16529796610389
HP:0001875HP:0410256Infection associated neutropenia2LAMTOR2 CL E G H2895690023ORPHA16529796610389
HP:0001875HP:0410256Infection associated neutropenia2LAMTOR2 CL E G H28956610798Immunodeficiency due to defect in mapbp-interacting protein610798C1835829OMIM16529796610389
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2LAMTOR2 CL E G H28956610798Immunodeficiency due to defect in mapbp-interacting protein610798C1835829OMIM16529796610389
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001875HP:0410256Infection associated neutropenia2LMBRD1 CL E G H55788277380METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE277380C1848578OMIM127623038612625
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2LYST CL E G H1130167ORPHA125751968606897
HP:0001875HP:0410256Infection associated neutropenia2LYST CL E G H1130167ORPHA125751968606897
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2MAD2L2 CL E G H10459617243Fanconi anemia, complementation group V617243C4310652OMIM11216764604094
HP:0001875HP:0410256Infection associated neutropenia2MAD2L2 CL E G H10459617243Fanconi anemia, complementation group V617243C4310652OMIM11216764604094
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM12603498165215
HP:0001875HP:0410256Infection associated neutropenia2MECOM CL E G H2122616738Radioulnar synostosis with amegakaryocytic thrombocytopenia 2616738C4225221OMIM12603498165215
HP:0001875HP:0410256Infection associated neutropenia2MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM148318871607481
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001875HP:0410256Infection associated neutropenia2MMAB CL E G H326625251110Methylmalonic aciduria cblB type251110C1855102OMIM146119331607568
HP:0001875HP:0410256Infection associated neutropenia2MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM152424525609831
HP:0001875HP:0410256Infection associated neutropenia2MSN CL E G H4478300988Immunodeficiency 50300988C4310812OMIM12647373309845
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2MSN CL E G H4478300988Immunodeficiency 50300988C4310812OMIM12647373309845
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM12817989164790
HP:0001875HP:0410256Infection associated neutropenia2NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM12817989164790
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001875HP:0410256Infection associated neutropenia2PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM111898653232000
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001875HP:0410256Infection associated neutropenia2PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19718654232050
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0001875HP:0410256Infection associated neutropenia2PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM13598907172100
HP:0001875HP:0410256Infection associated neutropenia2PIK3R1 CL E G H5295615214Agammaglobulinemia 7, autosomal recessive615214C3554689OMIM14578979171833
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2PIK3R1 CL E G H5295615214Agammaglobulinemia 7, autosomal recessive615214C3554689OMIM14578979171833
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001875HP:0410256Infection associated neutropenia2PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1649352176763
HP:0001875HP:0410256Infection associated neutropenia2RAB27A CL E G H587379477ORPHA12989766603868
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2RAB27A CL E G H587379477ORPHA12989766603868
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2RFX5 CL E G H5993209920Bare lymphocyte syndrome 2209920C2931418OMIM13509986601863
HP:0001875HP:0410256Infection associated neutropenia2RFX5 CL E G H5993209920Bare lymphocyte syndrome 2209920C2931418OMIM13509986601863
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2RFXANK CL E G H8625209920Bare lymphocyte syndrome 2209920C2931418OMIM12419987603200
HP:0001875HP:0410256Infection associated neutropenia2RFXANK CL E G H8625209920Bare lymphocyte syndrome 2209920C2931418OMIM12419987603200
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2RFXAP CL E G H5994209920Bare lymphocyte syndrome 2209920C2931418OMIM12199988601861
HP:0001875HP:0410256Infection associated neutropenia2RFXAP CL E G H5994209920Bare lymphocyte syndrome 2209920C2931418OMIM12199988601861
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2RMRP CL E G H6023175ORPHA180210031157660
HP:0001875HP:0410256Infection associated neutropenia2RMRP CL E G H6023175ORPHA180210031157660
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2RMRP CL E G H6023250250Metaphyseal chondrodysplasia, McKusick type250250C0220748OMIM180210031157660
HP:0001875HP:0410256Infection associated neutropenia2RMRP CL E G H6023250250Metaphyseal chondrodysplasia, McKusick type250250C0220748OMIM180210031157660
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM115410301604175
HP:0001875HP:0410256Infection associated neutropenia2RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM115410301604175
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2RPL26 CL E G H6154614900Diamond-Blackfan anemia 11614900C3554042OMIM18710327603704
HP:0001875HP:0410256Infection associated neutropenia2RPL26 CL E G H6154614900Diamond-Blackfan anemia 11614900C3554042OMIM18710327603704
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2RPS17 CL E G H6218612527Diamond-Blackfan anemia 4612527C2675860OMIM14710397180472
HP:0001875HP:0410256Infection associated neutropenia2RPS17 CL E G H6218612527Diamond-Blackfan anemia 4612527C2675860OMIM14710397180472
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM121410402603474
HP:0001875HP:0410256Infection associated neutropenia2RPS19 CL E G H6223105650Diamond-Blackfan anemia 1105650C2676137OMIM121410402603474
HP:0001875HP:0410256Infection associated neutropenia2RPS7 CL E G H6201612563Diamond-Blackfan anemia 8612563C2675511OMIM118710440603658
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2RPS7 CL E G H6201612563Diamond-Blackfan anemia 8612563C2675511OMIM118710440603658
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2SBDS CL E G H51119811Balo diseaseORPHA111919440607444
HP:0001875HP:0410256Infection associated neutropenia2SBDS CL E G H51119811Balo diseaseORPHA111919440607444
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM111919440607444
HP:0001875HP:0410256Infection associated neutropenia2SBDS CL E G H51119260400Shwachman syndrome260400C0272170OMIM111919440607444
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2SEC61A1 CL E G H29927617056Hyperuricemic nephropathy, familial juvenile, 4617056C4310741OMIM120118276609213
HP:0001875HP:0410256Infection associated neutropenia2SEC61A1 CL E G H29927617056Hyperuricemic nephropathy, familial juvenile, 4617056C4310741OMIM120118276609213
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2SLC35A1 CL E G H10559238459ORPHA112511021605634
HP:0001875HP:0410256Infection associated neutropenia2SLC35A1 CL E G H10559238459ORPHA112511021605634
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001875HP:0410256Infection associated neutropenia2SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM112511021605634
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM19034061602671
HP:0001875HP:0410256Infection associated neutropenia2SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM19034061602671
HP:0001875HP:0410256Infection associated neutropenia2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM132930521611672
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM194211102606622
HP:0001875HP:0410256Infection associated neutropenia2SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM194211102606622
HP:0001875HP:0410256Infection associated neutropenia2SRP54 CL E G H6729811Balo diseaseORPHA120411301604857
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2SRP54 CL E G H6729811Balo diseaseORPHA120411301604857
HP:0001875HP:0410256Infection associated neutropenia2SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM120411301604857
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2SRP54 CL E G H6729260400Shwachman syndrome260400C0272170OMIM120411301604857
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2STK4 CL E G H6789614868T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations614868C3553943OMIM119511408604965
HP:0001875HP:0410256Infection associated neutropenia2STK4 CL E G H6789614868T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations614868C3553943OMIM119511408604965
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2TCN2 CL E G H6948859ORPHA151911653613441
HP:0001875HP:0410256Infection associated neutropenia2TCN2 CL E G H6948859ORPHA151911653613441
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM151911653613441
HP:0001875HP:0410256Infection associated neutropenia2TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM151911653613441
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2TFR2 CL E G H7036604250Hemochromatosis type 3604250C1858664OMIM168711762604720
HP:0001875HP:0410256Infection associated neutropenia2TFR2 CL E G H7036604250Hemochromatosis type 3604250C1858664OMIM168711762604720
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM150211763190010
HP:0001875HP:0410256Infection associated neutropenia2TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM150211763190010
HP:0001875HP:0410256Infection associated neutropenia2USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM128225792613276
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM128225792613276
HP:0001875HP:0410256Infection associated neutropenia2VPS13B CL E G H157680193ORPHA148762183607817
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2VPS13B CL E G H157680193ORPHA148762183607817
HP:0001875HP:0410256Infection associated neutropenia2VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM148762183607817
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM148762183607817
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM145214579610035
HP:0001875HP:0410256Infection associated neutropenia2VPS45 CL E G H11311615285Severe congenital neutropenia 5, autosomal recessive615285C3809031OMIM145214579610035
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2WAS CL E G H745486788ORPHA160312731300392
HP:0001875HP:0410256Infection associated neutropenia2WAS CL E G H745486788ORPHA160312731300392
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2WAS CL E G H7454300299Severe congenital neutropenia X-linked300299C1845987OMIM160312731300392
HP:0001875HP:0410256Infection associated neutropenia2WAS CL E G H7454300299Severe congenital neutropenia X-linked300299C1845987OMIM160312731300392
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001875HP:0001875Neutropenia0BLNK CL E G H2976033110ORPHA029614211604515
HP:0001875HP:0001875Neutropenia0CD79A CL E G H97333110ORPHA01501698112205
HP:0001875HP:0001875Neutropenia0CD79A CL E G H973613501Agammaglobulinemia 3, autosomal recessive613501C3150751OMIM01501698112205
HP:0001875HP:0001875Neutropenia0CD79B CL E G H97433110ORPHA01611699147245
HP:0001875HP:0001875Neutropenia0ETV6 CL E G H2120616216Thrombocytopenia 5616216C4015537OMIM02843495600618
HP:0001875HP:0001875Neutropenia0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001875HP:0001875Neutropenia0HBB CL E G H3043231214ORPHA016004827141900
HP:0001875HP:0001875Neutropenia0IGHM CL E G H350733110ORPHA0835541147020
HP:0001875HP:0001875Neutropenia0IGLL1 CL E G H354333110ORPHA03105870146770
HP:0001875HP:0001875Neutropenia0LBR CL E G H3930169400Pelger-Huët anomaly169400C0030779OMIM03576518600024
HP:0001875HP:0001875Neutropenia0LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM018401742606453
HP:0001875HP:0001875Neutropenia0LRRC8A CL E G H5626233110ORPHA032119027608360
HP:0001875HP:0001875Neutropenia0MMUT CL E G H459479312ORPHA08967526609058
HP:0001875HP:0001875Neutropenia0MMUT CL E G H4594289916ORPHA08967526609058
HP:0001875HP:0001875Neutropenia0PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM085823794610423
HP:0001875HP:0001875Neutropenia0PIK3R1 CL E G H529533110ORPHA04578979171833
HP:0001875HP:0001875Neutropenia0RECQL4 CL E G H9401221016ORPHA042599949603780
HP:0001875HP:0001875Neutropenia0SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM024311107601736
HP:0001875HP:0001875Neutropenia0STX11 CL E G H8676603552Hemophagocytic lymphohistiocytosis, familial, 4603552C1863728OMIM033711429605014
HP:0001875HP:0001875Neutropenia0TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM011577300394
HP:0001875HP:0001875Neutropenia0TCF3 CL E G H692933110ORPHA074411633147141
HP:0001875HP:0001875Neutropenia0WAS CL E G H7454906ORPHA060312731300392
HP:0001875HP:0001875Neutropenia0WIPF1 CL E G H7456906ORPHA027912736602357
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1BLNK CL E G H2976033110ORPHA029614211604515
HP:0001875HP:0040289Cyclic neutropenia1BLNK CL E G H2976033110ORPHA029614211604515
HP:0001875HP:0410252Chronic neutropenia1BLNK CL E G H2976033110ORPHA029614211604515
HP:0001875HP:0410255Transient neutropenia1BLNK CL E G H2976033110ORPHA029614211604515
HP:0001875HP:0410255Transient neutropenia1CD79A CL E G H97333110ORPHA01501698112205
HP:0001875HP:0410252Chronic neutropenia1CD79A CL E G H97333110ORPHA01501698112205
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1CD79A CL E G H97333110ORPHA01501698112205
HP:0001875HP:0040289Cyclic neutropenia1CD79A CL E G H97333110ORPHA01501698112205
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1CD79A CL E G H973613501Agammaglobulinemia 3, autosomal recessive613501C3150751OMIM01501698112205
HP:0001875HP:0040289Cyclic neutropenia1CD79A CL E G H973613501Agammaglobulinemia 3, autosomal recessive613501C3150751OMIM01501698112205
HP:0001875HP:0410255Transient neutropenia1CD79A CL E G H973613501Agammaglobulinemia 3, autosomal recessive613501C3150751OMIM01501698112205
HP:0001875HP:0410252Chronic neutropenia1CD79A CL E G H973613501Agammaglobulinemia 3, autosomal recessive613501C3150751OMIM01501698112205
HP:0001875HP:0040289Cyclic neutropenia1CD79B CL E G H97433110ORPHA01611699147245
HP:0001875HP:0410252Chronic neutropenia1CD79B CL E G H97433110ORPHA01611699147245
HP:0001875HP:0410255Transient neutropenia1CD79B CL E G H97433110ORPHA01611699147245
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1CD79B CL E G H97433110ORPHA01611699147245
HP:0001875HP:0040289Cyclic neutropenia1ETV6 CL E G H2120616216Thrombocytopenia 5616216C4015537OMIM02843495600618
HP:0001875HP:0410255Transient neutropenia1ETV6 CL E G H2120616216Thrombocytopenia 5616216C4015537OMIM02843495600618
HP:0001875HP:0410252Chronic neutropenia1ETV6 CL E G H2120616216Thrombocytopenia 5616216C4015537OMIM02843495600618
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1ETV6 CL E G H2120616216Thrombocytopenia 5616216C4015537OMIM02843495600618
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001875HP:0040289Cyclic neutropenia1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001875HP:0410252Chronic neutropenia1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001875HP:0410255Transient neutropenia1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001875HP:0040289Cyclic neutropenia1HBB CL E G H3043231214ORPHA016004827141900
HP:0001875HP:0410252Chronic neutropenia1HBB CL E G H3043231214ORPHA016004827141900
HP:0001875HP:0410255Transient neutropenia1HBB CL E G H3043231214ORPHA016004827141900
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1HBB CL E G H3043231214ORPHA016004827141900
HP:0001875HP:0040289Cyclic neutropenia1IGHM CL E G H350733110ORPHA0835541147020
HP:0001875HP:0410252Chronic neutropenia1IGHM CL E G H350733110ORPHA0835541147020
HP:0001875HP:0410255Transient neutropenia1IGHM CL E G H350733110ORPHA0835541147020
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1IGHM CL E G H350733110ORPHA0835541147020
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1IGLL1 CL E G H354333110ORPHA03105870146770
HP:0001875HP:0040289Cyclic neutropenia1IGLL1 CL E G H354333110ORPHA03105870146770
HP:0001875HP:0410255Transient neutropenia1IGLL1 CL E G H354333110ORPHA03105870146770
HP:0001875HP:0410252Chronic neutropenia1IGLL1 CL E G H354333110ORPHA03105870146770
HP:0001875HP:0040289Cyclic neutropenia1LBR CL E G H3930169400Pelger-Huët anomaly169400C0030779OMIM03576518600024
HP:0001875HP:0410252Chronic neutropenia1LBR CL E G H3930169400Pelger-Huët anomaly169400C0030779OMIM03576518600024
HP:0001875HP:0410255Transient neutropenia1LBR CL E G H3930169400Pelger-Huët anomaly169400C0030779OMIM03576518600024
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1LBR CL E G H3930169400Pelger-Huët anomaly169400C0030779OMIM03576518600024
HP:0001875HP:0040289Cyclic neutropenia1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM018401742606453
HP:0001875HP:0410252Chronic neutropenia1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM018401742606453
HP:0001875HP:0410255Transient neutropenia1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM018401742606453
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM018401742606453
HP:0001875HP:0410252Chronic neutropenia1LRRC8A CL E G H5626233110ORPHA032119027608360
HP:0001875HP:0410255Transient neutropenia1LRRC8A CL E G H5626233110ORPHA032119027608360
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1LRRC8A CL E G H5626233110ORPHA032119027608360
HP:0001875HP:0040289Cyclic neutropenia1LRRC8A CL E G H5626233110ORPHA032119027608360
HP:0001875HP:0410255Transient neutropenia1MMUT CL E G H459479312ORPHA08967526609058
HP:0001875HP:0410255Transient neutropenia1MMUT CL E G H4594289916ORPHA08967526609058
HP:0001875HP:0410252Chronic neutropenia1MMUT CL E G H459479312ORPHA08967526609058
HP:0001875HP:0410252Chronic neutropenia1MMUT CL E G H4594289916ORPHA08967526609058
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1MMUT CL E G H459479312ORPHA08967526609058
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1MMUT CL E G H4594289916ORPHA08967526609058
HP:0001875HP:0040289Cyclic neutropenia1MMUT CL E G H459479312ORPHA08967526609058
HP:0001875HP:0040289Cyclic neutropenia1MMUT CL E G H4594289916ORPHA08967526609058
HP:0001875HP:0040289Cyclic neutropenia1PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM085823794610423
HP:0001875HP:0410252Chronic neutropenia1PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM085823794610423
HP:0001875HP:0410255Transient neutropenia1PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM085823794610423
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM085823794610423
HP:0001875HP:0040289Cyclic neutropenia1PIK3R1 CL E G H529533110ORPHA04578979171833
HP:0001875HP:0410252Chronic neutropenia1PIK3R1 CL E G H529533110ORPHA04578979171833
HP:0001875HP:0410255Transient neutropenia1PIK3R1 CL E G H529533110ORPHA04578979171833
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1PIK3R1 CL E G H529533110ORPHA04578979171833
HP:0001875HP:0410252Chronic neutropenia1RECQL4 CL E G H9401221016ORPHA042599949603780
HP:0001875HP:0410255Transient neutropenia1RECQL4 CL E G H9401221016ORPHA042599949603780
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1RECQL4 CL E G H9401221016ORPHA042599949603780
HP:0001875HP:0040289Cyclic neutropenia1RECQL4 CL E G H9401221016ORPHA042599949603780
HP:0001875HP:0040289Cyclic neutropenia1SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM024311107601736
HP:0001875HP:0410252Chronic neutropenia1SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM024311107601736
HP:0001875HP:0410255Transient neutropenia1SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM024311107601736
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM024311107601736
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1STX11 CL E G H8676603552Hemophagocytic lymphohistiocytosis, familial, 4603552C1863728OMIM033711429605014
HP:0001875HP:0040289Cyclic neutropenia1STX11 CL E G H8676603552Hemophagocytic lymphohistiocytosis, familial, 4603552C1863728OMIM033711429605014
HP:0001875HP:0410255Transient neutropenia1STX11 CL E G H8676603552Hemophagocytic lymphohistiocytosis, familial, 4603552C1863728OMIM033711429605014
HP:0001875HP:0410252Chronic neutropenia1STX11 CL E G H8676603552Hemophagocytic lymphohistiocytosis, familial, 4603552C1863728OMIM033711429605014
HP:0001875HP:0040289Cyclic neutropenia1TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM011577300394
HP:0001875HP:0410255Transient neutropenia1TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM011577300394
HP:0001875HP:0410252Chronic neutropenia1TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM011577300394
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM011577300394
HP:0001875HP:0040289Cyclic neutropenia1TCF3 CL E G H692933110ORPHA074411633147141
HP:0001875HP:0410252Chronic neutropenia1TCF3 CL E G H692933110ORPHA074411633147141
HP:0001875HP:0410255Transient neutropenia1TCF3 CL E G H692933110ORPHA074411633147141
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1TCF3 CL E G H692933110ORPHA074411633147141
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1WAS CL E G H7454906ORPHA060312731300392
HP:0001875HP:0040289Cyclic neutropenia1WAS CL E G H7454906ORPHA060312731300392
HP:0001875HP:0410255Transient neutropenia1WAS CL E G H7454906ORPHA060312731300392
HP:0001875HP:0410252Chronic neutropenia1WAS CL E G H7454906ORPHA060312731300392
HP:0001875HP:0410252Chronic neutropenia1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0001875HP:0410255Transient neutropenia1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0001875HP:0001904Neutropenia in presence of anti-neutropil antibodies1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0001875HP:0040289Cyclic neutropenia1WIPF1 CL E G H7456906ORPHA027912736602357
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2BLNK CL E G H2976033110ORPHA029614211604515
HP:0001875HP:0410256Infection associated neutropenia2BLNK CL E G H2976033110ORPHA029614211604515
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2CD79A CL E G H97333110ORPHA01501698112205
HP:0001875HP:0410256Infection associated neutropenia2CD79A CL E G H97333110ORPHA01501698112205
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2CD79A CL E G H973613501Agammaglobulinemia 3, autosomal recessive613501C3150751OMIM01501698112205
HP:0001875HP:0410256Infection associated neutropenia2CD79A CL E G H973613501Agammaglobulinemia 3, autosomal recessive613501C3150751OMIM01501698112205
HP:0001875HP:0410256Infection associated neutropenia2CD79B CL E G H97433110ORPHA01611699147245
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2CD79B CL E G H97433110ORPHA01611699147245
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2ETV6 CL E G H2120616216Thrombocytopenia 5616216C4015537OMIM02843495600618
HP:0001875HP:0410256Infection associated neutropenia2ETV6 CL E G H2120616216Thrombocytopenia 5616216C4015537OMIM02843495600618
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001875HP:0410256Infection associated neutropenia2FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001875HP:0410256Infection associated neutropenia2HBB CL E G H3043231214ORPHA016004827141900
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2HBB CL E G H3043231214ORPHA016004827141900
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2IGHM CL E G H350733110ORPHA0835541147020
HP:0001875HP:0410256Infection associated neutropenia2IGHM CL E G H350733110ORPHA0835541147020
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2IGLL1 CL E G H354333110ORPHA03105870146770
HP:0001875HP:0410256Infection associated neutropenia2IGLL1 CL E G H354333110ORPHA03105870146770
HP:0001875HP:0410256Infection associated neutropenia2LBR CL E G H3930169400Pelger-Huët anomaly169400C0030779OMIM03576518600024
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2LBR CL E G H3930169400Pelger-Huët anomaly169400C0030779OMIM03576518600024
HP:0001875HP:0410256Infection associated neutropenia2LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM018401742606453
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM018401742606453
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2LRRC8A CL E G H5626233110ORPHA032119027608360
HP:0001875HP:0410256Infection associated neutropenia2LRRC8A CL E G H5626233110ORPHA032119027608360
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2MMUT CL E G H459479312ORPHA08967526609058
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2MMUT CL E G H4594289916ORPHA08967526609058
HP:0001875HP:0410256Infection associated neutropenia2MMUT CL E G H459479312ORPHA08967526609058
HP:0001875HP:0410256Infection associated neutropenia2MMUT CL E G H4594289916ORPHA08967526609058
HP:0001875HP:0410256Infection associated neutropenia2PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM085823794610423
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM085823794610423
HP:0001875HP:0410256Infection associated neutropenia2PIK3R1 CL E G H529533110ORPHA04578979171833
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2PIK3R1 CL E G H529533110ORPHA04578979171833
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2RECQL4 CL E G H9401221016ORPHA042599949603780
HP:0001875HP:0410256Infection associated neutropenia2RECQL4 CL E G H9401221016ORPHA042599949603780
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM024311107601736
HP:0001875HP:0410256Infection associated neutropenia2SMARCD2 CL E G H6603617475Specific granule deficiency 2617475C4479548OMIM024311107601736
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2STX11 CL E G H8676603552Hemophagocytic lymphohistiocytosis, familial, 4603552C1863728OMIM033711429605014
HP:0001875HP:0410256Infection associated neutropenia2STX11 CL E G H8676603552Hemophagocytic lymphohistiocytosis, familial, 4603552C1863728OMIM033711429605014
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM011577300394
HP:0001875HP:0410256Infection associated neutropenia2TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM011577300394
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2TCF3 CL E G H692933110ORPHA074411633147141
HP:0001875HP:0410256Infection associated neutropenia2TCF3 CL E G H692933110ORPHA074411633147141
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2WAS CL E G H7454906ORPHA060312731300392
HP:0001875HP:0410256Infection associated neutropenia2WAS CL E G H7454906ORPHA060312731300392
HP:0001875HP:0410254Cyclic neutropenia in myeloid maturation arrest in bone marrow2WIPF1 CL E G H7456906ORPHA027912736602357
HP:0001875HP:0410256Infection associated neutropenia2WIPF1 CL E G H7456906ORPHA027912736602357


Genes (99) :ABCD4 AGA AP3B1 AP3D1 ATRX BLNK BTK CASP10 CD40 CD40LG CD79A CD79B CIITA CLPB CSF3R CXCR4 DNAJC21 EFL1 EIF2AK3 ELANE ETV6 FANCA FANCC FANCD2 FANCE FANCG FAS FASLG FBXL4 FMO3 G6PC3 GATA1 GATA2 GFI1 GINS1 GSS HAX1 HBB HTRA2 ICOS IGHM IGLL1 IRAK4 JAGN1 KRAS LAMTOR2 LBR LMBRD1 LRBA LRRC8A LYST MAD2L2 MECOM MMAA MMAB MMACHC MMUT MSN NRAS PACS2 PCCA PCCB PGM3 PIK3R1 PNP PRDX1 RAB27A RAG1 RECQL4 RFX5 RFXANK RFXAP RMRP RPL11 RPL26 RPS17 RPS19 RPS7 SBDS SEC61A1 SLC35A1 SLC37A4 SLC46A1 SMARCAL1 SMARCD2 SRP54 STAT1 STK4 STX11 TAZ TCF3 TCN2 TFR2 TFRC USB1 VPS13B VPS45 WAS WIPF1

Diseases (98) :614857 208400 608233 617050 231401 33110 613502 47 606843 308230 613501 209920 616271 617014 193670 811 260400 617941 1667 162800 2686 202700 616216 227650 227645 227646 600901 614082 615471 602079 612541 300835 614172 607847 613107 617827 266130 610738 231214 617248 601495 70592 616022 614470 90023 610798 169400 277380 614700 167 617243 616738 251100 251110 277400 79312 289916 300988 618067 606054 615816 615214 79477 221016 175 250250 612562 614900 612527 105650 612563 617056 238459 603585 232220 229050 242900 617475 614868 603552 302060 859 275350 604250 616740 604173 193 216550 615285 86788 906 300299 603909 601859 607594 613179 231154 391487
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.