Human Phenotype Ontology 
Grandparent Node:
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Abnormality of blood and blood-forming tissues (HP:0001871)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Abnormal leukocyte morphology (HP:0001881)help
Parent Node:
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Hematological neoplasm (HP:0004377)help
..Starting node
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Leukemia (HP:0001909)help
Term ID: 1909
Name: Leukemia
Synonym: Blood cancer
Definition: A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Comments:
Reference: HP:0001909
Genes and Diseases:
 
       Child Nodes:
........expandAcute leukemia (HP:0002488) help
................... HP:0004808 Acute myeloid leukemia
................... HP:0004820 Acute myelomonocytic leukemia
................... HP:0004836 Acute promyelocytic leukemia
................... HP:0004845 Acute monocytic leukemia
................... HP:0005531 Biphenotypic acute leukaemia
................... HP:0006721 Acute lymphoblastic leukemia
................... HP:0006733 Acute megakaryocytic leukemia
........expandLymphoid leukemia (HP:0005526) help
................... HP:0005539 T cell chronic lymphocytic lymphoma/leukemia
........expandMyeloproliferative disorder (HP:0005547) help
................... HP:0005534 Transient myeloproliferative syndrome
........expandChronic leukemia (HP:0005558) help
................... HP:0005506 Chronic myelogenous leukemia
................... HP:0005550 Chronic lymphatic leukemia
........expandMyeloid leukemia (HP:0012324) help
................... HP:0004820 Acute myelomonocytic leukemia
................... HP:0012209 Juvenile myelomonocytic leukemia
................... HP:0012325 Chronic myelomonocytic leukemia

 Sister Nodes: 
..expandLymphoma (HP:0002665) help
..expandLymphoproliferative disorder (HP:0005523) help
..expandMalignant eosinophil proliferation (HP:0006782) help
..expandMultiple myeloma (HP:0006775) help
..expandMyelodysplasia (HP:0002863) help
..expandPlasmacytoma (HP:0011857) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001909HP:0001909Leukemia0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM11324795607585
HP:0001909HP:0001909Leukemia0BLM CL E G H641210900Bloom syndrome210900C0005859OMIM11311058604610
HP:0001909HP:0001909Leukemia0BRD4 CL E G H23476443167ORPHA11013575608749
HP:0001909HP:0001909Leukemia0BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1291149602860
HP:0001909HP:0001909Leukemia0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13642348600140
HP:0001909HP:0001909Leukemia0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11073373602700
HP:0001909HP:0001909Leukemia0FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM16893582607139
HP:0001909HP:0001909Leukemia0FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM1653584613899
HP:0001909HP:0001909Leukemia0FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM1643585613984
HP:0001909HP:0001909Leukemia0FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM1173586613976
HP:0001909HP:0001909Leukemia0FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM1923588602956
HP:0001909HP:0001909Leukemia0HAX1 CL E G H10456610738Severe congenital neutropenia 3, autosomal recessive610738CN032247OMIM12116915605998
HP:0001909HP:0001909Leukemia0KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM1456407190070
HP:0001909HP:0001909Leukemia0MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM112037127120436
HP:0001909HP:0001909Leukemia0MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM112647325609309
HP:0001909HP:0001909Leukemia0MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM16027329600678
HP:0001909HP:0001909Leukemia0MYD88 CL E G H461533226ORPHA177562602170
HP:0001909HP:0001909Leukemia0NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM1147989164790
HP:0001909HP:0001909Leukemia0NUTM1 CL E G H256646443167ORPHA1129919608963
HP:0001909HP:0001909Leukemia0PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1578975171834
HP:0001909HP:0001909Leukemia0PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM13639122600259
HP:0001909HP:0001909Leukemia0RB1 CL E G H5925180200Retinoblastoma180200C0035335OMIM111139884614041
HP:0001909HP:0001909Leukemia1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM11324795607585
HP:0001909HP:0001909Leukemia1BLM CL E G H641210900Bloom syndrome210900C0005859OMIM11311058604610
HP:0001909HP:0001909Leukemia1BRD4 CL E G H23476443167ORPHA11013575608749
HP:0001909HP:0001909Leukemia1BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1291149602860
HP:0001909HP:0001909Leukemia1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13642348600140
HP:0001909HP:0001909Leukemia1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11073373602700
HP:0001909HP:0001909Leukemia1FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM16893582607139
HP:0001909HP:0001909Leukemia1FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM1653584613899
HP:0001909HP:0001909Leukemia1FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM1643585613984
HP:0001909HP:0001909Leukemia1FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM1173586613976
HP:0001909HP:0001909Leukemia1FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM1923588602956
HP:0001909HP:0001909Leukemia1HAX1 CL E G H10456610738Severe congenital neutropenia 3, autosomal recessive610738CN032247OMIM12116915605998
HP:0001909HP:0001909Leukemia1KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM1456407190070
HP:0001909HP:0001909Leukemia1MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM112037127120436
HP:0001909HP:0001909Leukemia1MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM112647325609309
HP:0001909HP:0001909Leukemia1MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM16027329600678
HP:0001909HP:0001909Leukemia1MYD88 CL E G H461533226ORPHA177562602170
HP:0001909HP:0001909Leukemia1NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM1147989164790
HP:0001909HP:0001909Leukemia1NUTM1 CL E G H256646443167ORPHA1129919608963
HP:0001909HP:0001909Leukemia1PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1578975171834
HP:0001909HP:0001909Leukemia1PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM13639122600259
HP:0001909HP:0001909Leukemia1RB1 CL E G H5925180200Retinoblastoma180200C0035335OMIM111139884614041
HP:0001909HP:0001909Leukemia2ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM11324795607585
HP:0001909HP:0001909Leukemia2BLM CL E G H641210900Bloom syndrome210900C0005859OMIM11311058604610
HP:0001909HP:0001909Leukemia2BRD4 CL E G H23476443167ORPHA11013575608749
HP:0001909HP:0001909Leukemia2BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1291149602860
HP:0001909HP:0001909Leukemia2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13642348600140
HP:0001909HP:0001909Leukemia2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11073373602700
HP:0001909HP:0001909Leukemia2FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM16893582607139
HP:0001909HP:0001909Leukemia2FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM1653584613899
HP:0001909HP:0001909Leukemia2FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM1643585613984
HP:0001909HP:0001909Leukemia2FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM1173586613976
HP:0001909HP:0001909Leukemia2FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM1923588602956
HP:0001909HP:0001909Leukemia2HAX1 CL E G H10456610738Severe congenital neutropenia 3, autosomal recessive610738CN032247OMIM12116915605998
HP:0001909HP:0001909Leukemia2KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM1456407190070
HP:0001909HP:0001909Leukemia2MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM112037127120436
HP:0001909HP:0001909Leukemia2MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM112647325609309
HP:0001909HP:0001909Leukemia2MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM16027329600678
HP:0001909HP:0001909Leukemia2MYD88 CL E G H461533226ORPHA177562602170
HP:0001909HP:0001909Leukemia2NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM1147989164790
HP:0001909HP:0001909Leukemia2NUTM1 CL E G H256646443167ORPHA1129919608963
HP:0001909HP:0001909Leukemia2PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1578975171834
HP:0001909HP:0001909Leukemia2PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM13639122600259
HP:0001909HP:0001909Leukemia2RB1 CL E G H5925180200Retinoblastoma180200C0035335OMIM111139884614041
HP:0001909HP:0001909Leukemia3ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM11324795607585
HP:0001909HP:0001909Leukemia3BLM CL E G H641210900Bloom syndrome210900C0005859OMIM11311058604610
HP:0001909HP:0001909Leukemia3BRD4 CL E G H23476443167ORPHA11013575608749
HP:0001909HP:0001909Leukemia3BUB1B CL E G H701257300Mosaic variegated aneuploidy syndrome 1257300CN031748OMIM1291149602860
HP:0001909HP:0001909Leukemia3CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13642348600140
HP:0001909HP:0001909Leukemia3EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11073373602700
HP:0001909HP:0001909Leukemia3FANCA CL E G H2175227650Fanconi anemia, complementation group A227650C3469521OMIM16893582607139
HP:0001909HP:0001909Leukemia3FANCC CL E G H2176227645Fanconi anemia, complementation group C227645C3468041OMIM1653584613899
HP:0001909HP:0001909Leukemia3FANCD2 CL E G H2177227646Fanconi anemia, complementation group D2227646C3160738OMIM1643585613984
HP:0001909HP:0001909Leukemia3FANCE CL E G H2178600901Fanconi anemia, complementation group E600901C3160739OMIM1173586613976
HP:0001909HP:0001909Leukemia3FANCG CL E G H2189614082Fanconi anemia, complementation group G614082C3469527OMIM1923588602956
HP:0001909HP:0001909Leukemia3HAX1 CL E G H10456610738Severe congenital neutropenia 3, autosomal recessive610738CN032247OMIM12116915605998
HP:0001909HP:0001909Leukemia3KRAS CL E G H3845614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM1456407190070
HP:0001909HP:0001909Leukemia3MLH1 CL E G H4292276300Turcot syndrome276300C0265325OMIM112037127120436
HP:0001909HP:0001909Leukemia3MSH2 CL E G H4436276300Turcot syndrome276300C0265325OMIM112647325609309
HP:0001909HP:0001909Leukemia3MSH6 CL E G H2956276300Turcot syndrome276300C0265325OMIM16027329600678
HP:0001909HP:0001909Leukemia3MYD88 CL E G H461533226ORPHA177562602170
HP:0001909HP:0001909Leukemia3NRAS CL E G H4893614470RAS-associated autoimmune leukoproliferative disorder614470C2674723OMIM1147989164790
HP:0001909HP:0001909Leukemia3NUTM1 CL E G H256646443167ORPHA1129919608963
HP:0001909HP:0001909Leukemia3PIK3CA CL E G H5290602501Megalencephaly cutis marmorata telangiectatica congenita602501C1865285OMIM1578975171834
HP:0001909HP:0001909Leukemia3PMS2 CL E G H5395276300Turcot syndrome276300C0265325OMIM13639122600259
HP:0001909HP:0001909Leukemia3RB1 CL E G H5925180200Retinoblastoma180200C0035335OMIM111139884614041
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001909HP:0001909Leukemia0KIF11 CL E G H38322526ORPHA0706388148760
HP:0001909HP:0001909Leukemia0MYD88 CL E G H4615153600Waldenstrom macroglobulinemia153600C1835192OMIM077562602170
HP:0001909HP:0001909Leukemia0SCN10A CL E G H633690026ORPHA08510582604427
HP:0001909HP:0001909Leukemia0SCN11A CL E G H1128090026ORPHA02010583604385
HP:0001909HP:0001909Leukemia0SCN9A CL E G H633590026ORPHA012910597603415
HP:0001909HP:0001909Leukemia1KIF11 CL E G H38322526ORPHA0706388148760
HP:0001909HP:0001909Leukemia1MYD88 CL E G H4615153600Waldenstrom macroglobulinemia153600C1835192OMIM077562602170
HP:0001909HP:0001909Leukemia1SCN10A CL E G H633690026ORPHA08510582604427
HP:0001909HP:0001909Leukemia1SCN11A CL E G H1128090026ORPHA02010583604385
HP:0001909HP:0001909Leukemia1SCN9A CL E G H633590026ORPHA012910597603415
HP:0001909HP:0001909Leukemia2KIF11 CL E G H38322526ORPHA0706388148760
HP:0001909HP:0001909Leukemia2MYD88 CL E G H4615153600Waldenstrom macroglobulinemia153600C1835192OMIM077562602170
HP:0001909HP:0001909Leukemia2SCN10A CL E G H633690026ORPHA08510582604427
HP:0001909HP:0001909Leukemia2SCN11A CL E G H1128090026ORPHA02010583604385
HP:0001909HP:0001909Leukemia2SCN9A CL E G H633590026ORPHA012910597603415
HP:0001909HP:0001909Leukemia3KIF11 CL E G H38322526ORPHA0706388148760
HP:0001909HP:0001909Leukemia3MYD88 CL E G H4615153600Waldenstrom macroglobulinemia153600C1835192OMIM077562602170
HP:0001909HP:0001909Leukemia3SCN10A CL E G H633690026ORPHA08510582604427
HP:0001909HP:0001909Leukemia3SCN11A CL E G H1128090026ORPHA02010583604385
HP:0001909HP:0001909Leukemia3SCN9A CL E G H633590026ORPHA012910597603415


Genes (119) :ABL1 ADAR ARHGAP26 ATM ATRX BCR BLM BRCA2 BRD4 BUB1 BUB1B BUB3 CALR CBFB CBL CEBPA CEP57 CREBBP DKC1 DNAJC21 DNMT3A DYNC2LI1 EFL1 ELANE EP300 ETV6 EVC EVC2 FANCA FANCC FANCD2 FANCE FANCG FLT3 GATA1 GATA2 GFI1 GLI1 GNB1 HAX1 IFIH1 JAK2 KIF11 KIT KRAS LIG4 LPP MLF1 MLH1 MLLT10 MPL MSH2 MSH6 MYD88 NBN NF1 NPM1 NRAS NSD1 NSUN2 NUMA1 NUP214 NUTM1 PDGFRA PDGFRB PICALM PIGA PIGL PIK3CA PIK3R1 PMS2 PTPN11 RARA RB1 RNASEH2A RNASEH2B RNASEH2C RPL11 RPL15 RPL18 RPL26 RPL27 RPL35 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RUNX1 SAMD9L SAMHD1 SBDS SCN10A SCN11A SCN9A SETBP1 SH2B3 SH3GL1 SRP54 STS TAL1 TAL2 TET2 THPO TP53 TREM2 TREX1 TRIP13 TSR2 TYROBP WAS WIPF1 XRCC4

Diseases (66) :208900 210900 443167 257300 180849 227650 227645 227646 600901 614082 610738 2526 614470 276300 33226 153600 602501 180200 90026 521 231401 125 3318 187950 254450 289 124 190685 614172 3226 729 99812 647 607685 131440 3474 798 281090 151623 2770 906 51 607785 613065 608232 605724 1052 601626 613563 305000 811 617052 260400 202700 607847 71493 98849 609942 235 612376 447 280000 616005 601399 2585 159550
 

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