Human Phenotype Ontology 
Grandparent Node:
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Leukemia (HP:0001909)help
Parent Node:
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Acute leukemia (HP:0002488)help
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Acute myeloid leukemia (HP:0004808)help
Term ID: 4808
Name: Acute myeloid leukemia
Synonym: Acute myeloblastic leukaemia; Acute myeloblastic leukemia; Acute myelocytic leukaemia; Acute myelocytic leukemia; Acute myelogenous leukaemia; Acute myelogenous leukemia; Acute myeloid leukaemia; AML
Definition: A form of leukemia characterized by overproduction of an early myeloid cell.
Comments:
Reference: HP:0004808
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAcute lymphoblastic leukemia (HP:0006721) help
..expandAcute megakaryocytic leukemia (HP:0006733) help
..expandAcute monocytic leukemia (HP:0004845) help
..expandAcute myelomonocytic leukemia (HP:0004820) help
..expandAcute promyelocytic leukemia (HP:0004836) help
..expandBiphenotypic acute leukemia (HP:0005531) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004808HP:0004808Acute myeloid leukemia0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0004808HP:0004808Acute myeloid leukemia0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0004808HP:0004808Acute myeloid leukemia0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional145
HP:0004808HP:0004808Acute myeloid leukemia0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0004808HP:0004808Acute myeloid leukemia0BRCA2 CL E G H6751101OMIM:605724Fanconi anemia, complementation group D17642
HP:0004808HP:0004808Acute myeloid leukemia0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare289
HP:0004808HP:0004808Acute myeloid leukemia0CEBPA CL E G H10501833OMIM:601626Leukemia, acute myeloid.65
HP:0004808HP:0004808Acute myeloid leukemia0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare833
HP:0004808HP:0004808Acute myeloid leukemia0CHIC2 CL E G H265111935OMIM:601626Leukemia, acute myeloid.
HP:0004808HP:0004808Acute myeloid leukemia0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional38
HP:0004808HP:0004808Acute myeloid leukemia0DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to23
HP:0004808HP:0004808Acute myeloid leukemia0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0004808HP:0004808Acute myeloid leukemia0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3HP:0040283 - Occasional5
HP:0004808HP:0004808Acute myeloid leukemia0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional5
HP:0004808HP:0004808Acute myeloid leukemia0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0004808HP:0004808Acute myeloid leukemia0DNMT3A CL E G H17882978OMIM:601626Leukemia, acute myeloid.44
HP:0004808HP:0004808Acute myeloid leukemia0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional1
HP:0004808HP:0004808Acute myeloid leukemia0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional79
HP:0004808HP:0004808Acute myeloid leukemia0ERBB3 CL E G H20653431OMIM:133180Erythroleukemia, familial, susceptibility to.12
HP:0004808HP:0004808Acute myeloid leukemia0ETV6 CL E G H21203495OMIM:601626Leukemia, acute myeloid.13
HP:0004808HP:0004808Acute myeloid leukemia0FLT3 CL E G H23223765OMIM:601626Leukemia, acute myeloid.61
HP:0004808HP:0004808Acute myeloid leukemia0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare29
HP:0004808HP:0004808Acute myeloid leukemia0GATA2 CL E G H26244171OMIM:601626Leukemia, acute myeloid.137
HP:0004808HP:0004808Acute myeloid leukemia0GATA2 CL E G H26244171OMIM:614038Lymphedema, primary, with myelodysplasia137
HP:0004808HP:0004808Acute myeloid leukemia0GATA2 CL E G H26244171ORPHA:98827Unclassified myelodysplastic syndromeHP:0040284 - Very rare137
HP:0004808HP:0004808Acute myeloid leukemia0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional56
HP:0004808HP:0004808Acute myeloid leukemia0GFI1 CL E G H26724237OMIM:607847Neutropenia, nonimmune chronic idiopathic, of adultsHP:0040283 - Occasional56
HP:0004808HP:0004808Acute myeloid leukemia0JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosisHP:0040283 - Occasional57
HP:0004808HP:0004808Acute myeloid leukemia0JAK2 CL E G H37176192OMIM:601626Leukemia, acute myeloid.57
HP:0004808HP:0004808Acute myeloid leukemia0KIT CL E G H38156342OMIM:601626Leukemia, acute myeloid.327
HP:0004808HP:0004808Acute myeloid leukemia0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional327
HP:0004808HP:0004808Acute myeloid leukemia0KRAS CL E G H38456407OMIM:601626Leukemia, acute myeloid.196
HP:0004808HP:0004808Acute myeloid leukemia0LPP CL E G H40266679OMIM:601626Leukemia, acute myeloid.1
HP:0004808HP:0004808Acute myeloid leukemia0MBD4 CL E G H89306919OMIM:6199751
HP:0004808HP:0004808Acute myeloid leukemia0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare1
HP:0004808HP:0004808Acute myeloid leukemia0MEFV CL E G H42106998ORPHA:3243Sweet syndromeHP:0040283 - Occasional281
HP:0004808HP:0004808Acute myeloid leukemia0MLLT10 CL E G H802816063OMIM:601626Leukemia, acute myeloid.
HP:0004808HP:0004808Acute myeloid leukemia0MPL CL E G H43527217ORPHA:71493Familial thrombocytosisHP:0040283 - Occasional97
HP:0004808HP:0004808Acute myeloid leukemia0NPM1 CL E G H48697910OMIM:601626Leukemia, acute myeloid.12
HP:0004808HP:0004808Acute myeloid leukemia0NUP214 CL E G H80218064OMIM:601626Leukemia, acute myeloid.1
HP:0004808HP:0004808Acute myeloid leukemia0PICALM CL E G H830115514OMIM:601626Leukemia, acute myeloid.3
HP:0004808HP:0004808Acute myeloid leukemia0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0004808HP:0004808Acute myeloid leukemia0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0004808HP:0004808Acute myeloid leukemia0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0004808HP:0004808Acute myeloid leukemia0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0004808HP:0004808Acute myeloid leukemia0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0004808HP:0004808Acute myeloid leukemia0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0004808HP:0004808Acute myeloid leukemia0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0004808HP:0004808Acute myeloid leukemia0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare11
HP:0004808HP:0004808Acute myeloid leukemia0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare40
HP:0004808HP:0004808Acute myeloid leukemia0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare26
HP:0004808HP:0004808Acute myeloid leukemia0RPS14 CL E G H620810387ORPHA:86841Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormalityHP:0040283 - Occasional
HP:0004808HP:0004808Acute myeloid leukemia0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare
HP:0004808HP:0004808Acute myeloid leukemia0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare5
HP:0004808HP:0004808Acute myeloid leukemia0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare42
HP:0004808HP:0004808Acute myeloid leukemia0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0004808HP:0004808Acute myeloid leukemia0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare22
HP:0004808HP:0004808Acute myeloid leukemia0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0004808HP:0004808Acute myeloid leukemia0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0004808HP:0004808Acute myeloid leukemia0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1
HP:0004808HP:0004808Acute myeloid leukemia0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare3
HP:0004808HP:0004808Acute myeloid leukemia0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare20
HP:0004808HP:0004808Acute myeloid leukemia0RUNX1 CL E G H86110471OMIM:601626Leukemia, acute myeloid.181
HP:0004808HP:0004808Acute myeloid leukemia0RUNX1 CL E G H86110471OMIM:601399Platelet disorder, familial, with associated myeloid malignancy181
HP:0004808HP:0004808Acute myeloid leukemia0SAMD9 CL E G H548091348OMIM:619041MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS28
HP:0004808HP:0004808Acute myeloid leukemia0SAMD9L CL E G H2192851349OMIM:252270Myelodysplasia and leukemia syndrome with monosomy 74
HP:0004808HP:0004808Acute myeloid leukemia0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional26
HP:0004808HP:0004808Acute myeloid leukemia0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 1.26
HP:0004808HP:0004808Acute myeloid leukemia0SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040284 - Very rare19
HP:0004808HP:0004808Acute myeloid leukemia0SH3GL1 CL E G H645510830OMIM:601626Leukemia, acute myeloid.
HP:0004808HP:0004808Acute myeloid leukemia0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional
HP:0004808HP:0004808Acute myeloid leukemia0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional
HP:0004808HP:0004808Acute myeloid leukemia0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1.
HP:0004808HP:0004808Acute myeloid leukemia0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional1
HP:0004808HP:0004808Acute myeloid leukemia0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040283 - Occasional82
HP:0004808HP:0004808Acute myeloid leukemia0TERT CL E G H701511730OMIM:601626Leukemia, acute myeloid.238
HP:0004808HP:0004808Acute myeloid leukemia0TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040284 - Very rare3
HP:0004808HP:0004808Acute myeloid leukemia0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional3
HP:0004808HP:0004808Acute myeloid leukemia0THPO CL E G H706611795ORPHA:71493Familial thrombocytosisHP:0040283 - Occasional23
HP:0004808HP:0004808Acute myeloid leukemia0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare911
HP:0004808HP:0004808Acute myeloid leukemia0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040284 - Very rare1


Genes (69) :ADA2 ADH5 ASXL1 BLM BRCA2 CDKN2A CEBPA CHEK2 CHIC2 CLPB DDX41 DKC1 DNAJC21 DNMT3A EFL1 ELANE ERBB3 ETV6 FLT3 GATA1 GATA2 GFI1 JAK2 KIT KRAS LPP MBD4 MDM2 MEFV MLLT10 MPL NPM1 NUP214 PICALM RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RUNX1 SAMD9 SAMD9L SBDS SF3B1 SH3GL1 SRP54 SRSF2 TCIRG1 TERT TET2 THPO TP53 TSR2

Diseases (25) :ORPHA:124 OMIM:619151 ORPHA:98849 ORPHA:125 OMIM:605724 ORPHA:524 OMIM:601626 ORPHA:486 OMIM:616871 OMIM:305000 OMIM:617052 ORPHA:811 OMIM:260400 OMIM:133180 OMIM:614038 ORPHA:98827 OMIM:607847 ORPHA:71493 OMIM:619975 ORPHA:3243 ORPHA:86841 OMIM:601399 OMIM:619041 OMIM:252270 ORPHA:75564
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.