- Hemophagocytosis (HP:0012156, a Human Phenotype Ontology term): Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. Evidence: PCS. Frequency: 0/2. (PMID:7436463)
- Typified by somatic mosaicism (HP:0001442, a Human Phenotype Ontology term): Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. Evidence: PCS. (PMID:23589569)
- Pallor (HP:0000980, a Human Phenotype Ontology term): Abnormally pale skin. Evidence: PCS. Frequency: 2/2. (PMID:7436463)
- Purpura (HP:0000979, a Human Phenotype Ontology term): Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. Evidence: PCS. (PMID:9766805)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/2. (PMID:7436463)
- Hepatomegaly (HP:0002240, a Human Phenotype Ontology term): Abnormally increased size of the liver. Evidence: PCS. Frequency: 2/2. (PMID:7436463)
- Fever (HP:0001945, a Human Phenotype Ontology term): Body temperature elevated above the normal range. Evidence: PCS. (PMID:9766805)
- Extramedullary hematopoiesis (HP:0001978, a Human Phenotype Ontology term): The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. Evidence: PCS. Frequency: 2/2. (PMID:7436463)
- Splenomegaly (HP:0001744, a Human Phenotype Ontology term): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 2/2. (PMID:7436463)
- Myeloproliferative disorder (HP:0005547, a Human Phenotype Ontology term): Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. Evidence: PCS. (PMID:7436463)
- Myelofibrosis (HP:0011974, a Human Phenotype Ontology term): Replacement of bone marrow by fibrous tissue. Evidence: PCS. Frequency: 2/2. (PMID:9766805)
These phenotypes are associated with the disease primary myelofibrosis (OMIM:254450, an entry in Online Mendelian Inheritance in Man).