Human Phenotype Ontology 
Grandparent Node:
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Neoplasm (HP:0002664)help
Parent Node:
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Abnormality of blood and blood-forming tissues (HP:0001871)help
Parent Node:
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Neoplasm by anatomical site (HP:0011793)help
..Starting node
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Hematological neoplasm (HP:0004377)help
Term ID: 4377
Name: Hematological neoplasm
Synonym: Blood tumor
Definition: Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).
Comments:
Reference: HP:0004377
Genes and Diseases:
 
       Child Nodes:
........expandLeukemia (HP:0001909) help
................... HP:0002488 Acute leukemia
................... HP:0005526 Lymphoid leukemia
................... HP:0005547 Myeloproliferative disorder
................... HP:0005558 Chronic leukemia
................... HP:0012324 Myeloid leukemia
........expandLymphoma (HP:0002665) help
................... HP:0011953 Pulmonary lymphoma
................... HP:0012189 Hodgkin lymphoma
................... HP:0012539 Non-Hodgkin lymphoma
................... HP:0045038 Gastric lymphoma
........expandMyelodysplasia (HP:0002863) help
................... HP:0012148 Multiple lineage myelodysplasia
................... HP:0012149 Bilineage myelodysplasia
................... HP:0012150 Single lineage myelodysplasia
........expandLymphoproliferative disorder (HP:0005523) help
................... HP:0005508 Monoclonal immunoglobulin M proteinemia
........expandMultiple myeloma (HP:0006775) help
........expandMalignant eosinophil proliferation (HP:0006782) help
........expandPlasmacytoma (HP:0011857) help

 Sister Nodes: 
..expandMalignant mesothelioma (HP:0100001) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandNeoplasm of head and neck (HP:0012288) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandNeoplasm of the breast (HP:0100013) help
..expandNeoplasm of the ear (HP:0012780) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandNeoplasm of the eye (HP:0100012) help
..expandNeoplasm of the gastrointestinal tract (HP:0007378) help
..expandNeoplasm of the genitourinary tract (HP:0007379) help
..expandNeoplasm of the heart (HP:0100544) help
..expandNeoplasm of the lip (HP:0100604) help
..expandNeoplasm of the nail (HP:0100826) help
..expandNeoplasm of the nervous system (HP:0004375) help
..expandNeoplasm of the oral cavity (HP:0100649) help
..expandNeoplasm of the pancreas (HP:0002894) help
..expandNeoplasm of the respiratory system (HP:0100606) help
..expandNeoplasm of the skeletal system (HP:0010622) help
..expandNeoplasm of the skin (HP:0008069) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandRetroperitoneal chemodectomas (HP:0006729) help
..expandSoft tissue neoplasm (HP:0031459) help
..expandVascular neoplasm (HP:0100742) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004377HP:0004377Hematological neoplasm0MLH1 CL E G H4292587Al Gazali Sabrinathan Nair syndromeORPHA012037127120436
HP:0004377HP:0004377Hematological neoplasm0MSH2 CL E G H4436587Al Gazali Sabrinathan Nair syndromeORPHA012647325609309
HP:0004377HP:0004377Hematological neoplasm0MSH6 CL E G H2956587Al Gazali Sabrinathan Nair syndromeORPHA06027329600678
HP:0004377HP:0004377Hematological neoplasm1MLH1 CL E G H4292587Al Gazali Sabrinathan Nair syndromeORPHA012037127120436
HP:0004377HP:0004377Hematological neoplasm1MSH2 CL E G H4436587Al Gazali Sabrinathan Nair syndromeORPHA012647325609309
HP:0004377HP:0004377Hematological neoplasm1MSH6 CL E G H2956587Al Gazali Sabrinathan Nair syndromeORPHA06027329600678
HP:0004377HP:0004377Hematological neoplasm2MLH1 CL E G H4292587Al Gazali Sabrinathan Nair syndromeORPHA012037127120436
HP:0004377HP:0004377Hematological neoplasm2MSH2 CL E G H4436587Al Gazali Sabrinathan Nair syndromeORPHA012647325609309
HP:0004377HP:0004377Hematological neoplasm2MSH6 CL E G H2956587Al Gazali Sabrinathan Nair syndromeORPHA06027329600678
HP:0004377HP:0004377Hematological neoplasm3MLH1 CL E G H4292587Al Gazali Sabrinathan Nair syndromeORPHA012037127120436
HP:0004377HP:0004377Hematological neoplasm3MSH2 CL E G H4436587Al Gazali Sabrinathan Nair syndromeORPHA012647325609309
HP:0004377HP:0004377Hematological neoplasm3MSH6 CL E G H2956587Al Gazali Sabrinathan Nair syndromeORPHA06027329600678
HP:0004377HP:0004377Hematological neoplasm4MLH1 CL E G H4292587Al Gazali Sabrinathan Nair syndromeORPHA012037127120436
HP:0004377HP:0004377Hematological neoplasm4MSH2 CL E G H4436587Al Gazali Sabrinathan Nair syndromeORPHA012647325609309
HP:0004377HP:0004377Hematological neoplasm4MSH6 CL E G H2956587Al Gazali Sabrinathan Nair syndromeORPHA06027329600678


Genes (216) :AAGAB ABL1 ADA ADAR ARHGAP26 ASXL1 ATM ATRX BCL10 BCL2 BCL6 BCR BIRC3 BLM BRAF BRCA1 BRCA2 BRD4 BRIP1 BUB1 BUB1B BUB3 CALR CASP10 CBFB CBL CCND1 CD19 CD27 CD28 CD70 CD81 CDKN2A CEBPA CEP57 CHD7 CHEK2 COL14A1 CR2 CREBBP CTC1 CTLA4 DCLRE1C DKC1 DNAJC21 DNASE1L3 DNMT3A DYNC2LI1 EFL1 ELANE EP300 ERCC4 ETV6 EVC EVC2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FLT3 FOXP1 GATA1 GATA2 GBA GFI1 GFI1B GINS1 GLI1 GNB1 HAX1 HLA-DRB1 HSPA9 ICOS IFIH1 IGH IL2RG IL7R ITK JAK2 KIF11 KIT KRAS LIG4 LPP LYST MAD2L2 MAGT1 MALT1 MCM4 MDM2 MLF1 MLH1 MLLT10 MPL MS4A1 MSH2 MSH6 MYC MYD88 NBEAL2 NBN NF1 NFKB1 NFKB2 NHP2 NOP10 NPM1 NRAS NSD1 NSUN2 NTHL1 NUMA1 NUP214 NUTM1 PALB2 PARN PDGFRA PDGFRB PICALM PIGA PIGL PIK3CA PIK3R1 PMS2 PNP PRF1 PRKCD PTEN PTPN11 RAD51 RAD51C RAD54B RAD54L RAF1 RAG1 RAG2 RARA RB1 RECQL4 RFWD3 RMRP RNASEH2A RNASEH2B RNASEH2C RNF43 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35 RPL35A RPL5 RPS10 RPS14 RPS17 RPS19 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RTEL1 RUNX1 SAMD9 SAMD9L SAMHD1 SBDS SCN10A SCN11A SCN9A SETBP1 SF3B1 SH2B3 SH2D1A SH3GL1 SLX4 SMARCD2 SRP54 SRP72 STAT3 STS TAL1 TAL2 TCF4 TERC TERT TET2 THPO TINF2 TNFRSF13B TNFRSF13C TNFRSF1B TNFSF12 TP53 TP63 TREM2 TREX1 TRIP13 TSR2 TYROBP UBE2T USB1 WAS WIPF1 WRAP53 XIAP XRCC2 XRCC4

Diseases (119) :587 39041 614286 208900 231401 300448 545 125 210900 500 84 443167 1052 257300 3318 605027 1572 240500 615122 618261 524 180849 1775 305000 811 260400 36412 227650 227645 227646 600901 614082 614172 614038 230800 721 617827 610738 613011 71493 729 2526 98849 614470 99812 235 606593 167 300853 609981 276300 33226 153600 251260 131440 447 602501 613179 109 180200 221016 1225 617784 250250 153550 105650 601399 617053 90026 2442 308240 617475 614675 2314 127550 1896 906 79501 521 137245 187950 254450 289 124 190685 3226 647 454840 607685 3474 157798 798 281090 2896 151623 2770 102700 51 607785 52416 52417 613065 608232 605724 601626 613563 617052 202700 607847 182170 609942 113970 612376 280000 616005 2585 159550 2584 3162
 

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