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198 relations: Acute myeloid leukemia, Adaptive immune system, Allogenic succession, Aplastic anemia, Arthralgia, Arthritis, Aspergillus, ASXL1, Asymptomatic, Autism spectrum, Autoimmune disease, Autoimmunity, Autoregulation, Azithromycin, B cell, Blood, Body dysmorphic disorder, Bone marrow examination, Bone marrow failure, Bowen's disease, Bowenoid papulosis, Breast cancer, Busulfan, C-terminus, Candida (fungus), Case report, Cellular differentiation, Cellulitis, Central nervous system, Cervical cancer, CFU-GM, Chromosome 3, Chromosome 7, Chronic lymphocytic leukemia, Chronic myelogenous leukemia, Chronic myelomonocytic leukemia, Chronic neutrophilic leukemia, Coding region, Complete blood count, Copy number analysis, Cripto, Cryptogenic organizing pneumonia, CXCL2, Cyclophosphamide, Cytomegalovirus, Cytoplasm, Deep vein thrombosis, Deletion (genetics), Dendritic cell, DNA, ..., DNA sequencing, Dominance (genetics), Dysplasia, Emberger syndrome, Embolism, Embryogenesis, Emotional and behavioral disorders, Endocarditis, Endothelium, Enhancer (genetics), Epicanthic fold, Epstein–Barr virus, Epstein–Barr virus infection, Erythema nodosum, Exon, Fibrosis, Fludarabine, FMS-like tyrosine kinase 3 ligand, FOXC2, Frameshift mutation, G protein–coupled receptor, GATA transcription factor, GATA1, GATA2, Gene, Gene expression, Gene silencing, Genetic disorder, Germline mutation, GFI1, GPR56, GPR65, Granulocyte, Granulocyte-macrophage colony-stimulating factor, Haematopoiesis, Haploinsufficiency, Head and neck cancer, Headache, Hematologic disease, Hematopoietic stem cell, Hematopoietic stem cell transplantation, Hemogenic endothelium, Herpes simplex, Histoplasma capsulatum, Human papillomavirus infection, Humoral immune deficiency, Hydrocele, Hypotelorism, Hypothyroidism, IKZF1, Immune disorder, Immune response, Immune system, Immune thrombocytopenic purpura, Immunodeficiency, Infection, Innate immune system, Insertion (genetics), Interleukin 1 beta, Intron, Karyotype, Kidney cancer, Large granular lymphocytic leukemia, Leiomyosarcoma, Leukemia, Lupus erythematosus, LYL1, Lymphatic system, Lymphedema, Lymphocyte, Macrocytosis, Macrophage, Megakaryocyte, Melanoma, Miscarriage, Molluscum contagiosum virus, Monocyte, Monocytopenia, Monocytosis, MonoMAC, Monosomy, Multiple sclerosis, MYB (gene), Myelodysplastic syndrome, Myeloproliferative neoplasm, N-terminus, Nasopharynx cancer, Natural killer cell, Negative feedback, Neutropenia, Neutrophil, Non-Hodgkin lymphoma, Nontuberculous mycobacteria, Nucleic acid sequence, Null allele, Opportunistic infection, Palpebral fissure, Pancreatic cancer, Panniculitis, Penetrance, Perilymph, Placebo, Plasmacytoid dendritic cell, Platelet, Point mutation, Positive feedback, Precancerous condition, Precursor cell, Primary biliary cholangitis, Progenitor cell, Promoter (genetics), Protein, PROX1, Ptosis (eyelid), Pulmonary alveolar proteinosis, Pulmonary function testing, Pulmonary hypertension, Red blood cell, Respiratory failure, Reticular fiber, RUNX1, Sanger sequencing, Semicircular canals, Sensorineural hearing loss, SETBP1, SPI1, Spindle cell sarcoma, Splice site mutation, STAG2, Stem cell, Strabismus, Structural motif, T cell, T helper cell, TAL1, Testicle, Thrombocytopenia, Thrombophilia, Thrombopoietin receptor, Total body irradiation, Transactivation domain, Transcription factor, Trisomy, Varicella zoster virus, Vertebrate, Wart, Webbed neck, Zinc finger. Expand index (148 more) »
Acute myeloid leukemia
Acute myeloid leukemia (AML) is a cancer of the myeloid line of blood cells, characterized by the rapid growth of abnormal cells that build up in the bone marrow and blood and interfere with normal blood cells.
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Adaptive immune system
The adaptive immune system, also known as the acquired immune system or, more rarely, as the specific immune system, is a subsystem of the overall immune system that is composed of highly specialized, systemic cells and processes that eliminate pathogens or prevent their growth.
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Allogenic succession
In ecology, allogenic succession is succession driven by the abiotic components of an ecosystem.
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Aplastic anemia
Aplastic anaemia is a rare disease in which the bone marrow and the hematopoietic stem cells that reside there are damaged.
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Arthralgia
Arthralgia (from Greek arthro-, joint + -algos, pain) literally means joint pain; it is a symptom of injury, infection, illnesses (in particular arthritis) or an allergic reaction to medication.
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Arthritis
Arthritis is a term often used to mean any disorder that affects joints.
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Aspergillus
Aspergillus is a genus consisting of a few hundred mold species found in various climates worldwide.
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ASXL1
Putative Polycomb group protein ASXL1 is a protein that in humans is encoded by the ASXL1 gene.
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Asymptomatic
In medicine, a disease is considered asymptomatic if a patient is a carrier for a disease or infection but experiences no symptoms.
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Autism spectrum
Autism spectrum, also known as autism spectrum disorder (ASD), is a range of conditions classified as neurodevelopmental disorders.
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Autoimmune disease
An autoimmune disease is a condition arising from an abnormal immune response to a normal body part.
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Autoimmunity
Autoimmunity is the system of immune responses of an organism against its own healthy cells and tissues.
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Autoregulation
Autoregulation is a process within many biological systems, resulting from an internal adaptive mechanism that works to adjust (or mitigate) that system's response to stimuli.
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Azithromycin
Azithromycin is an antibiotic useful for the treatment of a number of bacterial infections.
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B cell
B cells, also known as B lymphocytes, are a type of white blood cell of the lymphocyte subtype.
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Blood
Blood is a body fluid in humans and other animals that delivers necessary substances such as nutrients and oxygen to the cells and transports metabolic waste products away from those same cells.
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Body dysmorphic disorder
Body dysmorphic disorder (BDD), occasionally still called dysmorphophobia, is a mental disorder characterized by the obsessive idea that some aspect of one's own body part or appearance is severely flawed and warrants exceptional measures to hide or fix their dysmorphic part on their person.
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Bone marrow examination
Bone marrow examination refers to the pathologic analysis of samples of bone marrow obtained by bone marrow biopsy (often called a trephine biopsy) and bone marrow aspiration.
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Bone marrow failure
Bone marrow failure occurs in individuals who produce an insufficient amount of red blood cells, white blood cells or platelets.
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Bowen's disease
Bowen's disease, also known as squamous cell carcinoma in situJames, William; Berger, Timothy; Elston, Dirk (2005).
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Bowenoid papulosis
Bowenoid papulosis is a cutaneous condition characterized by the presence of pigmented verrucous papules on the body of the penis.
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Breast cancer
Breast cancer is cancer that develops from breast tissue.
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Busulfan
Busulfan (Myleran, GlaxoSmithKline, Busulfex IV, Otsuka America Pharmaceutical, Inc.) is a cancer drug, in use since 1959.
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C-terminus
The C-terminus (also known as the carboxyl-terminus, carboxy-terminus, C-terminal tail, C-terminal end, or COOH-terminus) is the end of an amino acid chain (protein or polypeptide), terminated by a free carboxyl group (-COOH).
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Candida (fungus)
Candida is a genus of yeasts and is the most common cause of fungal infections worldwide.
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Case report
In medicine, a case report is a detailed report of the symptoms, signs, diagnosis, treatment, and follow-up of an individual patient.
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Cellular differentiation
In developmental biology, cellular differentiation is the process where a cell changes from one cell type to another.
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Cellulitis
Cellulitis is a bacterial infection involving the inner layers of the skin.
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Central nervous system
The central nervous system (CNS) is the part of the nervous system consisting of the brain and spinal cord.
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Cervical cancer
Cervical cancer is a cancer arising from the cervix.
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CFU-GM
CFU-GM (or "GMP", for "granulocyte-macrophage progenitor") is a colony forming unit.
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Chromosome 3
Chromosome 3 is one of the 23 pairs of chromosomes in humans.
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Chromosome 7
Chromosome 7 is one of the 23 pairs of chromosomes in humans.
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Chronic lymphocytic leukemia
Chronic lymphocytic leukemia (CLL) is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell).
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Chronic myelogenous leukemia
Chronic myelogenous leukemia (CML), also known as chronic myeloid leukemia, is a cancer of the white blood cells.
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Chronic myelomonocytic leukemia
Chronic myelomonocytic leukaemia (CMML) is a type of leukaemia, which are cancers of the blood-forming cells of the bone marrow.
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Chronic neutrophilic leukemia
Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm that features a persistent neutrophilia in peripheral blood, myeloid hyperplasia in bone marrow, hepatosplenomegaly, and the absence of the Philadelphia chromosome or a BCR/ABL fusion gene.
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Coding region
The coding region of a gene, also known as the CDS (from CoDing Sequence), is that portion of a gene's DNA or RNA that codes for protein.
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Complete blood count
A complete blood count (CBC), also known as a complete blood cell count, full blood count (FBC), or full blood exam (FBE), is a blood panel requested by a doctor or other medical professional that gives information about the cells in a patient's blood, such as the cell count for each cell type and the concentrations of various proteins and minerals.
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Copy number analysis
Copy number analysis usually refers to the process of analyzing data produced by a test for DNA copy number variation in patient's sample.
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Cripto
Cripto is an EGF-CFC or epidermal growth factor-CFC, which is encoded by the Cryptic family 1 gene.
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Cryptogenic organizing pneumonia
Cryptogenic organizing pneumonia (COP) also known as bronchiolitis obliterans organizing pneumonia (BOOP, not to be confused with bronchiolitis obliterans) is a form of non-infectious pneumonia; more specifically, COP is an inflammation of the bronchioles (bronchiolitis) and surrounding tissue in the lungs.
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CXCL2
Chemokine (C-X-C motif) ligand 2 (CXCL2) is a small cytokine belonging to the CXC chemokine family that is also called macrophage inflammatory protein 2-alpha (MIP2-alpha), Growth-regulated protein beta (Gro-beta) and Gro oncogene-2 (Gro-2).
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Cyclophosphamide
Cyclophosphamide (CP), also known as cytophosphane among other, is a medication used as chemotherapy and to suppress the immune system.
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Cytomegalovirus
Cytomegalovirus (CMV) (from the Greek cyto-, "cell", and megalo-, "large") is a genus of viruses in the order Herpesvirales, in the family Herpesviridae, in the subfamily Betaherpesvirinae.
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Cytoplasm
In cell biology, the cytoplasm is the material within a living cell, excluding the cell nucleus.
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Deep vein thrombosis
Deep vein thrombosis (DVT), is the formation of a blood clot in a deep vein, most commonly the legs.
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Deletion (genetics)
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is lost during DNA replication.
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Dendritic cell
Dendritic cells (DCs) are antigen-presenting cells (also known as accessory cells) of the mammalian immune system.
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DNA
Deoxyribonucleic acid (DNA) is a thread-like chain of nucleotides carrying the genetic instructions used in the growth, development, functioning and reproduction of all known living organisms and many viruses.
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DNA sequencing
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule.
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Dominance (genetics)
Dominance in genetics is a relationship between alleles of one gene, in which the effect on phenotype of one allele masks the contribution of a second allele at the same locus.
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Dysplasia
Dysplasia (from Ancient Greek δυσ- dys-, "bad" or "difficult" and πλάσις plasis, "formation") is a term used in pathology to refer to an abnormality of development or an epithelial anomaly of growth and differentiation (epithelial dysplasia).
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Emberger syndrome
The Emberger syndrome is a rare, autosomal dominant, genetic disorder caused by familial or sporadic inactivating mutations in one of the two parental GATA2 genes.
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Embolism
An embolism is the lodging of an embolus, a blockage-causing piece of material, inside a blood vessel.
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Embryogenesis
Embryogenesis is the process by which the embryo forms and develops.
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Emotional and behavioral disorders
Emotional and behavioral disorders (EBD; sometimes called emotional disturbance or serious emotional disturbance) refer to a disability classification used in educational settings that allows educational institutions to provide special education and related services to students that have poor social or academic adjustment that cannot be better explained by biological abnormalities or a developmental disability.
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Endocarditis
Endocarditis is an inflammation of the inner layer of the heart, the endocardium.
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Endothelium
Endothelium refers to cells that line the interior surface of blood vessels and lymphatic vessels, forming an interface between circulating blood or lymph in the lumen and the rest of the vessel wall.
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Enhancer (genetics)
In genetics, an enhancer is a short (50–1500 bp) region of DNA that can be bound by proteins (activators) to increase the likelihood that transcription of a particular gene will occur.
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Epicanthic fold
The epicanthic fold is the skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye.
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Epstein–Barr virus
The Epstein–Barr virus (EBV), also called human herpesvirus 4 (HHV-4), is one of eight known human herpesvirus types in the herpes family, and is one of the most common viruses in humans.
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Epstein–Barr virus infection
There are several forms of Epstein–Barr virus infection.
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Erythema nodosum
Erythema nodosum (EN), also known as subacute migratory panniculitis of Vilanova and Piñol, is an inflammatory condition characterized by inflammation of the fat cells under the skin, resulting in tender red nodules or lumps that are usually seen on both shins.
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Exon
An exon is any part of a gene that will encode a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing.
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Fibrosis
Fibrosis is the formation of excess fibrous connective tissue in an organ or tissue in a reparative or reactive process.
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Fludarabine
Fludarabine, sold under the brand name Fludara among others, is a chemotherapy medication used in the treatment of leukemia and lymphoma.
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FMS-like tyrosine kinase 3 ligand
FMS-like tyrosine kinase 3 ligand (FLT3L) is an endogenous small molecule that functions as a cytokine and growth factor that increases the number of immune cells (lymphocytes (B cells and T cells)) by activating the hematopoietic progenitors.
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FOXC2
Forkhead box protein C2 (FOXC2) also known as forkhead-related protein FKHL14 (FKHL14), transcription factor FKH-14, or mesenchyme fork head protein 1 (MFH1) is a protein that in humans is encoded by the FOXC2 gene.
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Frameshift mutation
A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number of nucleotides in a DNA sequence that is not divisible by three.
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G protein–coupled receptor
G protein–coupled receptors (GPCRs), also known as seven-(pass)-transmembrane domain receptors, 7TM receptors, heptahelical receptors, serpentine receptor, and G protein–linked receptors (GPLR), constitute a large protein family of receptors that detect molecules outside the cell and activate internal signal transduction pathways and, ultimately, cellular responses.
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GATA transcription factor
GATA transcription factors are a family of transcription factors characterized by their ability to bind to the DNA sequence "GATA".
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GATA1
GATA-binding factor 1 or GATA-1 (also termed Erythroid transcription factor) is the founding member of the GATA family of transcription factors.
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GATA2
GATA2 or GATA-binding factor 2 is a transcription factor, i.e. a nuclear protein which regulates the expression of genes.
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Gene
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
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Gene expression
Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product.
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Gene silencing
Gene silencing is the regulation of gene expression in a cell to prevent the expression of a certain gene.
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Genetic disorder
A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.
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Germline mutation
A germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ovum).
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GFI1
Zinc finger protein Gfi-1 is a protein that in humans is encoded by the GFI1 gene.
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GPR56
G protein-coupled receptor 56 also known as TM7XN1 is a protein encoded by the ADGRG1 gene.
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GPR65
Psychosine receptor is a G protein-coupled receptor (GPCR) protein that in humans is encoded by the GPR65 gene.
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Granulocyte
Granulocytes are a category of white blood cells characterized by the presence of granules in their cytoplasm.
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Granulocyte-macrophage colony-stimulating factor
Granulocyte-macrophage colony-stimulating factor (GM-CSF), also known as colony-stimulating factor 2 (CSF2), is a monomeric glycoprotein secreted by macrophages, T cells, mast cells, natural killer cells, endothelial cells and fibroblasts that functions as a cytokine.
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Haematopoiesis
Haematopoiesis (from Greek αἷμα, "blood" and ποιεῖν "to make"; also hematopoiesis in American English; sometimes also haemopoiesis or hemopoiesis) is the formation of blood cellular components.
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Haploinsufficiency
Haploinsufficiency is a mechanism of action to explain a phenotype when a diploid organism has lost one copy of a gene and is left with a single functional copy of that gene.
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Head and neck cancer
Head and neck cancer is a group of cancers that starts in the mouth, nose, throat, larynx, sinuses, or salivary glands.
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Headache
Headache is the symptom of pain anywhere in the region of the head or neck.
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Hematologic disease
Hematologic diseases are disorders which primarily affect the blood.
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Hematopoietic stem cell
Hematopoietic stem cells (HSCs) are the stem cells that give rise to other blood cells.
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Hematopoietic stem cell transplantation
Hematopoietic stem cell transplantation (HSCT) is the transplantation of multipotent hematopoietic stem cells, usually derived from bone marrow, peripheral blood, or umbilical cord blood.
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Hemogenic endothelium
Hemogenic endothelium is a special subset of endothelial cells scattered within blood vessels that can differentiate into haematopoietic cells.
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Herpes simplex
Herpes simplex is a viral disease caused by the herpes simplex virus.
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Histoplasma capsulatum
Histoplasma capsulatum is a species of dimorphic fungi.
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Human papillomavirus infection
Human papillomavirus infection is an infection by human papillomavirus (HPV).
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Humoral immune deficiency
Humoral immune deficiencies are conditions which cause impairment of humoral immunity, which can lead to immunodeficiency.
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Hydrocele
A hydrocele is an accumulation of serous fluid in a body cavity.
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Hypotelorism
Hypotelorism is a medical condition in which there is an abnormally decreased distance between two organs or bodily parts, usually pertaining to the eyes (orbits), also known as orbital hypotelorism.
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Hypothyroidism
Hypothyroidism, also called underactive thyroid or low thyroid, is a disorder of the endocrine system in which the thyroid gland does not produce enough thyroid hormone.
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IKZF1
DNA-binding protein Ikaros also known as Ikaros family zinc finger protein 1 is a protein that in humans is encoded by the IKZF1 gene.
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Immune disorder
An immune disorder is a dysfunction of the immune system.
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Immune response
The Immune response is the body's response caused by its immune system being activated by antigens.
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Immune system
The immune system is a host defense system comprising many biological structures and processes within an organism that protects against disease.
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Immune thrombocytopenic purpura
Immune thrombocytopenia (ITP) is a type of thrombocytopenic purpura defined as isolated low platelet count (thrombocytopenia) with normal bone marrow and the absence of other causes of thrombocytopenia.
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Immunodeficiency
Immunodeficiency (or immune deficiency) is a state in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent.
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Infection
Infection is the invasion of an organism's body tissues by disease-causing agents, their multiplication, and the reaction of host tissues to the infectious agents and the toxins they produce.
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Innate immune system
The innate immune system, also known as the non-specific immune system or in-born immunity system, is an important subsystem of the overall immune system that comprises the cells and mechanisms involved in the defense of the host from infection by other organisms.
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Insertion (genetics)
In genetics, an insertion (also called an insertion mutation) is the addition of one or more nucleotide base pairs into a DNA sequence.
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Interleukin 1 beta
Interleukin 1 beta (IL1β) also known as leukocytic pyrogen, leukocytic endogenous mediator, mononuclear cell factor, lymphocyte activating factor and other names, is a cytokine protein that in humans is encoded by the IL1B gene.
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Intron
An intron is any nucleotide sequence within a gene that is removed by RNA splicing during maturation of the final RNA product.
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Karyotype
A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell.
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Kidney cancer
Kidney cancer, also known as renal cancer, is a type of cancer that starts in the cells in the kidney.
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Large granular lymphocytic leukemia
Large granular lymphocytic (LGL) leukemia is a chronic lymphoproliferative disorder that exhibits an unexplained, chronic (> 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood.
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Leiomyosarcoma
Leiomyosarcoma, also referred to as LMS, is a malignant (cancerous) smooth muscle tumor.
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Leukemia
Leukemia, also spelled leukaemia, is a group of cancers that usually begin in the bone marrow and result in high numbers of abnormal white blood cells.
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Lupus erythematosus
Lupus erythematosus is a collection of autoimmune diseases in which the human immune system becomes hyperactive and attacks healthy tissues.
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LYL1
Protein lyl-1 is a protein that in humans is encoded by the LYL1 gene.
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Lymphatic system
The lymphatic system is part of the vascular system and an important part of the immune system, comprising a network of lymphatic vessels that carry a clear fluid called lymph (from Latin, lympha meaning "water") directionally towards the heart.
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Lymphedema
Lymphedema, also known as lymphoedema and lymphatic edema, is a condition of localized fluid retention and tissue swelling caused by a compromised lymphatic system, which normally returns interstitial fluid to the bloodstream.
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Lymphocyte
A lymphocyte is one of the subtypes of white blood cell in a vertebrate's immune system.
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Macrocytosis
Macrocytosis is the enlargement of red blood cells with near-constant hemoglobin concentration, and is defined by a mean corpuscular volume (MCV) of greater than 100 femtolitres (the precise criterion varies between laboratories).
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Macrophage
Macrophages (big eaters, from Greek μακρός (makrós).
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Megakaryocyte
A megakaryocyte (mega- + karyo- + -cyte, "large-nucleus cell") is a large bone marrow cell with a lobated nucleus responsible for the production of blood thrombocytes (platelets), which are necessary for normal blood clotting.
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Melanoma
Melanoma, also known as malignant melanoma, is a type of cancer that develops from the pigment-containing cells known as melanocytes.
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Miscarriage
Miscarriage, also known as spontaneous abortion and pregnancy loss, is the natural death of an embryo or fetus before it is able to survive independently.
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Molluscum contagiosum virus
The molluscum contagiosum virus (MCV) is a species of virus in the poxvirus family, which causes the disease molluscum contagiosum in humans.
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Monocyte
Monocytes are a type of leukocyte, or white blood cell.
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Monocytopenia
Monocytopenia is a form of leukopenia associated with a deficiency of monocytes.
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Monocytosis
Monocytosis is an increase in the number of monocytes circulating in the blood.
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MonoMAC
MonoMAC ((also termed MonoMAC/DCML or Monocytopenia and Mycobacterium Avium Complex/Dendritic Cell, Monocyte, B and NK Lymphocyte deficiency) is a rare autosomal dominant syndrome associated with: monocytopenia, B and NK cell lymphopenia; mycobacterial, viral, fungal, and bacterial opportunistic infections; and virus infection-induced cancers. The disorder often progresses to the development of myelodysplasia, myeloid leukemias, and other types of cancer. MonoMAC is a life-threatening and precancerous disorder. Inactivating mutations in one of the two parental GATA2 genes is responsible for the many diverse presentations of a genetic disorder that groups these presentations together into a single disease termed GATA2 deficiency. These autosomal dominant mutations are known or presumed to cause a reduction, i.e. a haploinsufficiency, in the cellular levels of the gene's product, GATA2. The GATA2 protein is a transcription factor critical for the embryonic development, maintenance, and functionality of blood-forming, lympathic-forming, and other tissue-forming stem cells. In consequence of these mutations, cellular levels of GATA2 are deficient and individuals develop over time hematological, immunological, lymphatic, and/or other disorders that may begin as apparently benign abnormalities but commonly progress to severe organ (e.g. lung) failure, enhanced susceptibility to opportunistic infections, virus infection-induced cancers, the myelodysplastic syndrome, and/or various types of leukemia. MonoMAC is a presentation of GATA2 deficiency that involves primarily signs and symptoms of immune deficiency that cause an extremely high susceptibility to infections and infection-induced benign and malignant tumors. In addition to this, however, MonoMAC-afflicted individuals often show one or more signs and symptoms of other GATA2 presentations. MonoMAC was first described by Vihn and colleagues in 2010 as an autosomal dominant familial disease. One year later, Dickinson and colleagues discovered that the MonoMAC disorder in four individuals was associated with any one of four different mutaions in the GATA2 gene. Subsequent studies identified numerous other GATA2 gene mutations that are associated with the development of MonoMAC, showed that these mutations inactivated or were considered likely to inactivate one of two two parental GATA2 genes, and found that essentially all individuals with MonoMAC had one of the mutations known or considered to inactivate GATA2.
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Monosomy
Monosomy is a form of aneuploidy with the presence of only one chromosome from a pair.
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Multiple sclerosis
Multiple sclerosis (MS) is a demyelinating disease in which the insulating covers of nerve cells in the brain and spinal cord are damaged.
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MYB (gene)
Myb proto-oncogene protein also known as transcriptional activator Myb is a protein that in humans is encoded by the MYB gene.
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Myelodysplastic syndrome
Myelodysplastic syndromes (MDS) are a group of cancers in which immature blood cells in the bone marrow do not mature and therefore do not become healthy blood cells.
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Myeloproliferative neoplasm
The myeloproliferative neoplasms (MPNs), previously myeloproliferative diseases (MPDs), are a group of diseases of the bone marrow in which excess cells are produced.
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N-terminus
The N-terminus (also known as the amino-terminus, NH2-terminus, N-terminal end or amine-terminus) is the start of a protein or polypeptide referring to the free amine group (-NH2) located at the end of a polypeptide.
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Nasopharynx cancer
Nasopharynx cancer or nasopharyngeal carcinoma (NPC) is the most common cancer originating in the nasopharynx, most commonly in the postero-lateral nasopharynx or pharyngeal recess or 'Fossa of Rosenmüller' accounting for 50% cases.
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Natural killer cell
Natural killer cells or NK cells are a type of cytotoxic lymphocyte critical to the innate immune system.
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Negative feedback
Negative feedback (or balancing feedback) occurs when some function of the output of a system, process, or mechanism is fed back in a manner that tends to reduce the fluctuations in the output, whether caused by changes in the input or by other disturbances.
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Neutropenia
Neutropenia or neutropaenia is an abnormally low concentration of neutrophils (a type of white blood cell) in the blood.
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Neutrophil
Neutrophils (also known as neutrocytes) are the most abundant type of granulocytes and the most abundant (40% to 70%) type of white blood cells in most mammals.
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Non-Hodgkin lymphoma
Non-Hodgkin lymphoma (NHL) is a group of blood cancers that includes all types of lymphoma except Hodgkin's lymphomas.
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Nontuberculous mycobacteria
Nontuberculous mycobacteria (NTM), also known as environmental mycobacteria, atypical mycobacteria and mycobacteria other than tuberculosis (MOTT), are mycobacteria which do not cause tuberculosis or leprosy (also known as Hansen's disease).
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Nucleic acid sequence
A nucleic acid sequence is a succession of letters that indicate the order of nucleotides forming alleles within a DNA (using GACT) or RNA (GACU) molecule.
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Null allele
A null allele is a nonfunctional copy of a gene caused by a genetic mutation.
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Opportunistic infection
An opportunistic infection is an infection caused by pathogens (bacteria, viruses, fungi, or protozoa) that take advantage of an opportunity not normally available, such as a host with a weakened immune system, an altered microbiota (such as a disrupted gut microbiota), or breached integumentary barriers.
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Palpebral fissure
The palpebral fissure is the elliptic space between the medial and lateral canthi of the two open lids.
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Pancreatic cancer
Pancreatic cancer arises when cells in the pancreas, a glandular organ behind the stomach, begin to multiply out of control and form a mass.
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Panniculitis
Panniculitis is a group of diseases whose hallmark is inflammation of subcutaneous adipose tissue (the fatty layer under the skin – panniculus adiposus).
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Penetrance
Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype).
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Perilymph
Perilymph is an extracellular fluid located within the inner ear.
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Placebo
A placebo is a substance or treatment of no intended therapeutic value.
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Plasmacytoid dendritic cell
Plasmacytoid dendritic cells (pDCs) are a rare type of immune cell that are known to secrete large quantities of type 1 interferon (IFNs) in response to a viral infection.
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Platelet
Platelets, also called thrombocytes (from Greek θρόμβος, "clot" and κύτος, "cell"), are a component of blood whose function (along with the coagulation factors) is to react to bleeding from blood vessel injury by clumping, thereby initiating a blood clot.
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Point mutation
A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a sequence of DNA or RNA.
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Positive feedback
Positive feedback is a process that occurs in a feedback loop in which the effects of a small disturbance on a system include an increase in the magnitude of the perturbation.
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Precancerous condition
A precancerous condition or premalignant condition, sometimes called a potentially precancerous condition or potentially premalignant condition, is a term used to describe certain conditions or lesions involving abnormal cells which are associated with an increased risk of developing into cancer.
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Precursor cell
In cell biology, a precursor cell, also called a blast cell or simply blast, is a partially differentiated cell, usually referred to as a unipotent cell that has lost most of its stem cell properties.
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Primary biliary cholangitis
Primary biliary cholangitis (PBC), previously known as primary biliary cirrhosis, is an autoimmune disease of the liver.
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Progenitor cell
A progenitor cell is a biological cell that, like a stem cell, has a tendency to differentiate into a specific type of cell, but is already more specific than a stem cell and is pushed to differentiate into its "target" cell.
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Promoter (genetics)
In genetics, a promoter is a region of DNA that initiates transcription of a particular gene.
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Protein
Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.
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PROX1
Prospero homeobox protein 1 is a protein that in humans is encoded by the PROX1 gene.
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Ptosis (eyelid)
Ptosis (/ˈtoʊsɪs/) is a drooping or falling of the upper eyelid.
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Pulmonary alveolar proteinosis
Pulmonary alveolar proteinosis (PAP) is a group of rare lung disorders characterized by abnormal accumulation of surfactant-derived lipoprotein compounds within the alveoli of the lung.
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Pulmonary function testing
Pulmonary function test (PFT) is a complete evaluation of the respiratory system including patient history, physical examinations, and tests of pulmonary function.
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Pulmonary hypertension
Pulmonary hypertension (PH or PHTN) is a condition of increased blood pressure within the arteries of the lungs.
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Red blood cell
Red blood cells-- also known as RBCs, red cells, red blood corpuscles, haematids, erythroid cells or erythrocytes (from Greek erythros for "red" and kytos for "hollow vessel", with -cyte translated as "cell" in modern usage), are the most common type of blood cell and the vertebrate's principal means of delivering oxygen (O2) to the body tissues—via blood flow through the circulatory system.
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Respiratory failure
Respiratory failure results from inadequate gas exchange by the respiratory system, meaning that the arterial oxygen, carbon dioxide or both cannot be kept at normal levels.
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Reticular fiber
Reticular fibers, reticular fibres or reticulin is a type of fiber in connective tissue composed of type III collagen secreted by reticular cells.
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RUNX1
Runt-related transcription factor 1 (RUNX1) also known as acute myeloid leukemia 1 protein (AML1) or core-binding factor subunit alpha-2 (CBFA2) is a protein that in humans is encoded by the RUNX1 gene.
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Sanger sequencing
Sanger sequencing is a method of DNA sequencing first commercialized by Applied Biosystems, based on the selective incorporation of chain-terminating dideoxynucleotides by DNA polymerase during in vitro DNA replication.
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Semicircular canals
The semicircular canals or semicircular ducts are three semicircular, interconnected tubes located in the innermost part of each ear, the inner ear.
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Sensorineural hearing loss
Sensorineural hearing loss (SNHL) is a type of hearing loss, or deafness, in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).
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SETBP1
SET binding protein 1 is a protein that in humans is encoded by the SETBP1 gene.
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SPI1
Transcription factor PU.1 is a protein that in humans is encoded by the SPI1 gene.
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Spindle cell sarcoma
Spindle cell sarcoma is a type of connective tissue cancer in which the cells are spindle-shaped when examined under a microscope.
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Splice site mutation
A splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing takes place during the processing of precursor messenger RNA into mature messenger RNA.
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STAG2
Cohesin subunit SA-2 is a protein that in humans is encoded by the STAG2 gene.
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Stem cell
Stem cells are biological cells that can differentiate into other types of cells and can divide to produce more of the same type of stem cells.
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Strabismus
Strabismus, also known as crossed eyes, is a condition in which the eyes do not properly align with each other when looking at an object.
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Structural motif
In a chain-like biological molecule, such as a protein or nucleic acid, a structural motif is a supersecondary structure, which also appears in a variety of other molecules.
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T cell
A T cell, or T lymphocyte, is a type of lymphocyte (a subtype of white blood cell) that plays a central role in cell-mediated immunity.
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T helper cell
The T helper cells (Th cells) are a type of T cell that play an important role in the immune system, particularly in the adaptive immune system.
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TAL1
T-cell acute lymphocytic leukemia protein 1 (i.e. TAL1 but also termed stem cell leukemia/T-cell acute leukemia 1) is a protein that in humans is encoded by the TAL1 gene.
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Testicle
The testicle or testis is the male reproductive gland in all animals, including humans.
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Thrombocytopenia
Thrombocytopenia is a condition characterized by abnormally low levels of thrombocytes, also known as platelets, in the blood.
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Thrombophilia
Thrombophilia (sometimes hypercoagulability or a prothrombotic state) is an abnormality of blood coagulation that increases the risk of thrombosis (blood clots in blood vessels).
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Thrombopoietin receptor
The thrombopoietin receptor also known as the myeloproliferative leukemia protein or CD110 (Cluster of Differentiation 110) is a protein that in humans is encoded by the MPL (myeloproliferative leukemia virus) oncogene.
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Total body irradiation
Total body irradiation (TBI) is a form of radiotherapy used primarily as part of the preparative regimen for haematopoietic stem cell (or bone marrow) transplantation.
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Transactivation domain
The transactivation domain or trans-activating domain (TAD) is a transcription factor scaffold domain which contains binding sites for other proteins such as transcription coregulators.
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Transcription factor
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence.
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Trisomy
A trisomy is a type of polysomy in which there are three instances of a particular chromosome, instead of the normal two.
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Varicella zoster virus
Varicella zoster virus or varicella-zoster virus (VZV) is one of eight herpesviruses known to infect humans.
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Vertebrate
Vertebrates comprise all species of animals within the subphylum Vertebrata (chordates with backbones).
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Wart
Warts are typically small, rough, and hard growths that are similar in color to the rest of the skin.
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Webbed neck
A webbed neck, or pterygium colli deformity, is a congenital skin fold that runs along the sides of the neck down to the shoulders.
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Zinc finger
A zinc finger is a small protein structural motif that is characterized by the coordination of one or more zinc ions (Zn2+) in order to stabilize the fold.
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References
[1] https://en.wikipedia.org/wiki/GATA2_deficiency
