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66 relations: Absolute neutrophil count, Acute myeloid leukemia, Albinism, Apoptosis, Autosome, Barth syndrome, Birth defect, Blood, Bone marrow, Charcot–Marie–Tooth disease, Chédiak–Higashi syndrome, Chronic condition, Cohen syndrome, Cyclic neutropenia, Dominance (genetics), Elastase, Embryogenesis, Fibroblast, Filgrastim, G6PC3, GATA2, Gene, GFI1, Glycogen storage disease, Granulocyte, Granulocyte colony-stimulating factor, Griscelli syndrome, Haploinsufficiency, HAX1, Hermansky–Pudlak syndrome, Human papillomavirus infection, Hyper IgM syndrome, Leukemia, Lymphatic system, Lysosome, Mastoiditis, MicroRNA, Myelocyte, Myelodysplastic syndrome, Myelofibrosis, Myelopoiesis, Neutropenia, Neutrophil, Neutrophil elastase, Online Mendelian Inheritance in Man, Peripheral neuropathy, Phenotype, Platelet, Platelet alpha-granule, Promyelocyte, ..., Protein, Pulmonary hypertension, Retinopathy, SBDS, Shwachman–Diamond syndrome, Splenomegaly, Staphylococcus, Stem cell, Syndrome, Synonym, Thrombocytopenia, Transcription factor, Umbrella term, VPS45, WHIM syndrome, Wiskott–Aldrich syndrome protein. Expand index (16 more) »
Absolute neutrophil count
Absolute neutrophil count (ANC) is a measure of the number of neutrophil granulocytes (also known as polymorphonuclear cells, PMN's, polys, granulocytes, segmented neutrophils or segs) present in the blood.
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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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Albinism
Albinism in humans is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes.
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Apoptosis
Apoptosis (from Ancient Greek ἀπόπτωσις "falling off") is a process of programmed cell death that occurs in multicellular organisms.
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Autosome
An autosome is a chromosome that is not an allosome (a sex chromosome).
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Barth syndrome
Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II, is an X-linked genetic disorder.
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Birth defect
A birth defect, also known as a congenital disorder, is a condition present at birth regardless of its cause.
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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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Bone marrow
Bone marrow is a semi-solid tissue which may be found within the spongy or cancellous portions of bones.
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Charcot–Marie–Tooth disease
Charcot–Marie–Tooth disease (CMT) is one of the hereditary motor and sensory neuropathies, a group of varied inherited disorders of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across various parts of the body.
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Chédiak–Higashi syndrome
Chédiak–Higashi syndrome is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis.
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Chronic condition
A chronic condition is a human health condition or disease that is persistent or otherwise long-lasting in its effects or a disease that comes with time.
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Cohen syndrome
Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome, named after Michael Cohen, William Pepper and Jaroslav Cervenka, who researched the illness) is a genetic disorder.
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Cyclic neutropenia
Cyclic neutropenia (or cyclical neutropenia) is a form of neutropenia that tends to occur every three weeks and lasting three to six days at a time due to changing rates of cell production by the bone marrow.
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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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Elastase
In molecular biology, elastase is an enzyme from the class of proteases (peptidases) that break down proteins.
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Embryogenesis
Embryogenesis is the process by which the embryo forms and develops.
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Fibroblast
A fibroblast is a type of biological cell that synthesizes the extracellular matrix and collagen, the structural framework (stroma) for animal tissues, and plays a critical role in wound healing.
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Filgrastim
Filgrastim, sold under the brand name Neupogen among others, is a medication used to treat low blood neutrophils.
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G6PC3
Glucose-6-phosphatase 3, also known as glucose-6-phosphatase beta, is an enzyme that in humans is encoded by the G6PC3 gene.
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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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GFI1
Zinc finger protein Gfi-1 is a protein that in humans is encoded by the GFI1 gene.
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Glycogen storage disease
A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by enzyme deficiencies affecting either glycogen synthesis, glycogen breakdown or glycolysis (glucose breakdown), typically within muscles and/or liver cells.
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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 colony-stimulating factor
Granulocyte-colony stimulating factor (G-CSF or GCSF), also known as colony-stimulating factor 3 (CSF 3), is a glycoprotein that stimulates the bone marrow to produce granulocytes and stem cells and release them into the bloodstream.
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Griscelli syndrome
Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood.
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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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HAX1
HCLS1-associated protein X-1 is a protein that in humans is encoded by the HAX1 gene.
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Hermansky–Pudlak syndrome
Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).
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Human papillomavirus infection
Human papillomavirus infection is an infection by human papillomavirus (HPV).
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Hyper IgM syndrome
Hyper IgM syndromes is a group of primary immune deficiency disorders characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation.
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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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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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Lysosome
A lysosome is a membrane-bound organelle found in nearly all animal cells.
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Mastoiditis
Mastoiditis is the result of an infection that extends to the air cells of the skull behind the ear.
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MicroRNA
A microRNA (abbreviated miRNA) is a small non-coding RNA molecule (containing about 22 nucleotides) found in plants, animals and some viruses, that functions in RNA silencing and post-transcriptional regulation of gene expression.
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Myelocyte
A myelocyte is a young cell of the granulocytic series, occurring normally in bone marrow (can be found in circulating blood when caused by certain diseases).
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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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Myelofibrosis
Myelofibrosis, also known as osteomyelofibrosis, is a relatively rare bone marrow cancer.
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Myelopoiesis
In hematology, myelopoiesis in the broadest sense of the term is the production of bone marrow and of all cells that arise from it, namely, all blood cells.
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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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Neutrophil elastase
Neutrophil elastase (leukocyte elastase, ELANE, ELA2, elastase 2, neutrophil, elaszym, serine elastase, subtype human leukocyte elastase (HLE)) is a serine proteinase in the same family as chymotrypsin and has broad substrate specificity.
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Online Mendelian Inheritance in Man
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship.
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Peripheral neuropathy
Peripheral neuropathy (PN) is damage to or disease affecting nerves, which may impair sensation, movement, gland or organ function, or other aspects of health, depending on the type of nerve affected.
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Phenotype
A phenotype is the composite of an organism's observable characteristics or traits, such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior (such as a bird's nest).
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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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Platelet alpha-granule
In platelets, the term "alpha granules" is used to describe granules containing several growth factors.
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Promyelocyte
A promyelocyte (or progranulocyte) is a granulocyte precursor, developing from the myeloblast and developing into the myelocyte.
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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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Pulmonary hypertension
Pulmonary hypertension (PH or PHTN) is a condition of increased blood pressure within the arteries of the lungs.
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Retinopathy
Retinopathy is any damage to the retina of the eyes, which may cause vision impairment.
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SBDS
Ribosome maturation protein SBDS is a protein that in humans is encoded by the SBDS gene.
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Shwachman–Diamond syndrome
Shwachman–Diamond syndrome (SDS), or Shwachman–Bodian–Diamond syndrome, is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities and short stature.
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Splenomegaly
Splenomegaly is an enlargement of the spleen.
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Staphylococcus
Staphylococcus (from the σταφυλή, staphylē, "grape" and κόκκος, kókkos, "granule") is a genus of Gram-positive bacteria.
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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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Syndrome
A syndrome is a set of medical signs and symptoms that are correlated with each other and, often, with a particular disease or disorder.
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Synonym
A synonym is a word or phrase that means exactly or nearly the same as another word or phrase in the same language.
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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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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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Umbrella term
An umbrella term is a word or phrase that covers a wide range of concepts belonging to a common category.
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VPS45
Vacuolar protein sorting-associated protein 45 is a protein that in humans is encoded by the VPS45 gene.
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WHIM syndrome
WHIM Syndrome (or Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis syndrome) is a rare congenital immunodeficiency disorder characterized by chronic noncyclic neutropenia.
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Wiskott–Aldrich syndrome protein
The Wiskott–Aldrich Syndrome protein (WASp) is a 502-amino acid protein expressed in cells of the hematopoietic system.
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Redirects here:
Agranulocytosis infantilis hereditaria, Congenital Neutropenia, Infantile genetic agranulocytosis, Kostmann disease, Kostmann's disease, Severe Congenital Neutropenia.
References
[1] https://en.wikipedia.org/wiki/Kostmann_syndrome
