Human Phenotype Ontology 
Grandparent Node:
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Abnormal leukocyte morphology (HP:0001881)help
Grandparent Node:
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Hematological neoplasm (HP:0004377)help
Parent Node:
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Leukemia (HP:0001909)help
..Starting node
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Myeloproliferative disorder (HP:0005547)help
Term ID: 5547
Name: Myeloproliferative disorder
Synonym:
Definition: Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.
Comments:
Reference: HP:0005547
Genes and Diseases:
 
       Child Nodes:
........expandTransient myeloproliferative syndrome (HP:0005534) help

 Sister Nodes: 
..expandAcute leukemia (HP:0002488) help
..expandChronic leukemia (HP:0005558) help
..expandLymphoid leukemia (HP:0005526) help
..expandMyeloid leukemia (HP:0012324) 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:0005547HP:0005547Myeloproliferative disorder0ABL1 CL E G H2576ORPHA:521Chronic myeloid leukemiaHP:0040280 - Obligate51
HP:0005547HP:0005547Myeloproliferative disorder0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiencyHP:0040283 - Occasional62
HP:0005547HP:0005547Myeloproliferative disorder0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent145
HP:0005547HP:0005547Myeloproliferative disorder0BCR CL E G H6131014ORPHA:521Chronic myeloid leukemiaHP:0040280 - Obligate5
HP:0005547HP:0005547Myeloproliferative disorder0CALR CL E G H8111455OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included1
HP:0005547HP:0005547Myeloproliferative disorder0GATA1 CL E G H26234170OMIM:190685Down syndrometrisomy 21, included.29
HP:0005547HP:0005547Myeloproliferative disorder0GATA2 CL E G H26244171ORPHA:3226Deafness-lymphedema-leukemia syndromeHP:0040283 - Occasional137
HP:0005547HP:0005547Myeloproliferative disorder0JAK2 CL E G H37176192OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included57
HP:0005547HP:0005547Myeloproliferative disorder0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent327
HP:0005547HP:0005547Myeloproliferative disorder0MPL CL E G H43527217OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included97
HP:0005547HP:0005547Myeloproliferative disorder0PDGFRA CL E G H51568803OMIM:607685Hypereosinophilic syndrome, idiopathic.337
HP:0005547HP:0005547Myeloproliferative disorder0PDGFRB CL E G H51598804OMIM:131440Myeloproliferative disorder, chronic, with eosinophilia.28
HP:0005547HP:0005547Myeloproliferative disorder0RUNX1 CL E G H86110471ORPHA:521Chronic myeloid leukemiaHP:0040280 - Obligate181
HP:0005547HP:0005547Myeloproliferative disorder0SH2B3 CL E G H1001929605OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included4
HP:0005547HP:0005547Myeloproliferative disorder0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent1
HP:0005547HP:0005547Myeloproliferative disorder0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent3
HP:0005547HP:0005534Transient myeloproliferative syndrome1 CL E G H


Genes (16) :ABL1 ALAD ASXL1 BCR CALR GATA1 GATA2 JAK2 KIT MPL PDGFRA PDGFRB RUNX1 SH2B3 SRSF2 TET2

Diseases (8) :ORPHA:521 ORPHA:100924 ORPHA:98849 OMIM:254450 OMIM:190685 ORPHA:3226 OMIM:607685 OMIM:131440
 

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