Human Phenotype Ontology 
Grandparent Node:
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Abnormality of bone marrow cell morphology (HP:0005561)help
Parent Node:
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Abnormality of multiple cell lineages in the bone marrow (HP:0012145)help
..Starting node
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Myelofibrosis (HP:0011974)help
Term ID: 11974
Name: Myelofibrosis
Synonym:
Definition: Replacement of bone marrow by fibrous tissue.
Comments:
Reference: HP:0011974
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBone marrow hypercellularity (HP:0031020) help
..expandBone marrow hypocellularity (HP:0005528) help
..expandMegaloblastic bone marrow (HP:0001980) help
..expandPancytopenia (HP:0001876) 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:0011974HP:0011974Myelofibrosis0CALR CL E G H8111455ORPHA:3318Essential thrombocythemiaHP:0040283 - Occasional1
HP:0011974HP:0011974Myelofibrosis0CALR CL E G H8111455OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included1
HP:0011974HP:0011974Myelofibrosis0GFI1B CL E G H83284238OMIM:187900Bleeding disorder, platelet-type, 17.3
HP:0011974HP:0011974Myelofibrosis0JAK2 CL E G H37176192ORPHA:3318Essential thrombocythemiaHP:0040283 - Occasional57
HP:0011974HP:0011974Myelofibrosis0JAK2 CL E G H37176192OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included57
HP:0011974HP:0011974Myelofibrosis0JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040281 - Very frequent57
HP:0011974HP:0011974Myelofibrosis0MPIG6B CL E G H8073913937OMIM:617441Thrombocytopenia, anemia, and myelofibrosis.1
HP:0011974HP:0011974Myelofibrosis0MPL CL E G H43527217ORPHA:3318Essential thrombocythemiaHP:0040283 - Occasional97
HP:0011974HP:0011974Myelofibrosis0MPL CL E G H43527217OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included97
HP:0011974HP:0011974Myelofibrosis0MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040281 - Very frequent97
HP:0011974HP:0011974Myelofibrosis0NBEAL2 CL E G H2321831928OMIM:139090Gray platelet syndrome.127
HP:0011974HP:0011974Myelofibrosis0SH2B3 CL E G H1001929605ORPHA:3318Essential thrombocythemiaHP:0040283 - Occasional4
HP:0011974HP:0011974Myelofibrosis0SH2B3 CL E G H1001929605OMIM:254450Myelofibrosismyelofibrosis with myeloid metaplasia, included4
HP:0011974HP:0011974Myelofibrosis0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0011974HP:0011974Myelofibrosis0SRC CL E G H671411283OMIM:616937Thrombocytopenia 615
HP:0011974HP:0011974Myelofibrosis0TBXAS1 CL E G H691611609OMIM:231095Ghosal hematodiaphyseal dysplasia.16
HP:0011974HP:0011974Myelofibrosis0TET2 CL E G H5479025941ORPHA:3318Essential thrombocythemiaHP:0040283 - Occasional3
HP:0011974HP:0011974Myelofibrosis0TET2 CL E G H5479025941ORPHA:729Polycythemia veraHP:0040281 - Very frequent3
HP:0011974HP:0011974Myelofibrosis0TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0011974HP:0011974Myelofibrosis0TP53 CL E G H715711998ORPHA:3318Essential thrombocythemiaHP:0040283 - Occasional911


Genes (13) :CALR GFI1B JAK2 MPIG6B MPL NBEAL2 SH2B3 SHOC2 SRC TBXAS1 TET2 TLR8 TP53

Diseases (10) :ORPHA:3318 OMIM:254450 OMIM:187900 ORPHA:729 OMIM:617441 OMIM:139090 OMIM:607721 OMIM:616937 OMIM:231095 OMIM:301078
 

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