oculocutaneous albinism type 1B

Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.


phakomatosis cesiomarmorata

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leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.


oculocutaneous albinism type 1A

Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.


dyschromatosis universalis hereditaria 3

Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene.


familial progressive hyper- and hypopigmentation

Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.


Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.


dyschromatosis symmetrica hereditaria

Acropigmentation of Dohi is a genodermatosis characterized by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.


oculocutaneous albinism type 2

Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.


Ito hypomelanosis

Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.


Dowling-Degos disease 1

Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.


linear and whorled nevoid hypermelanosis

Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism.


telomeric D-loop binding

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Binding to a telomeric D-loop. A telomeric D-loop is a three-stranded DNA displacement loop that forms at the site where the telomeric 3' single-stranded DNA overhang (formed of the repeat sequence TTAGGG in mammals) is tucked back inside the double-stranded component of telomeric DNA molecule, thus forming a t-loop or telomeric-loop and protecting the chromosome terminus.


microcephaly 9, primary, autosomal recessive

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene.


detection of parasitic plant

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The series of events in which a stimulus from a parasitic plant is received and converted into a molecular signal.


detection of fungus

The series of events in which a stimulus from a fungus is received and converted into a molecular signal.


detection of symbiont

The series of events in which a stimulus from a symbiont (an organism living in close physical association with an organism of a different species) is received and converted into a molecular signal. The symbiont is defined as the smaller of the organisms involved in a symbiotic interaction.


detection of molecule of fungal origin

The series of events in which a stimulus from a molecule of fungal origin is received and converted into a molecular signal.


detection of yeast

The series of events in which a stimulus from a yeast is received and converted into a molecular signal.


detection of symbiotic bacterium

The series of events in which a stimulus from a symbiotic bacterium, a bacterium living in close physical association with another organism, is received and converted into a molecular signal.


detection of protozoan

The series of events in which a stimulus from a protozoan is received and converted into a molecular signal.


detection of molecule of oomycetes origin

The series of events in which a stimulus from a molecule of oomycetes origin is received and converted into a molecular signal.


detection of nematode

The series of events in which a stimulus from a nematode is received and converted into a molecular signal.


detection of muramyl dipeptide

The series of events in which a muramyl dipeptide stimulus is received by a cell and converted into a molecular signal. Muramyl dipeptide is derived from peptidoglycan.


detection of lipoteichoic acid

The series of events in which a lipoteichoic acid stimulus is received by a cell and converted into a molecular signal; lipoteichoic acid is a major component of the cell wall of gram-positive bacteria and typically consists of a chain of glycerol-phosphate repeating units linked to a glycolipid anchor.


detection of oomycetes

The series of events in which a stimulus from an oomycetes is received and converted into a molecular signal.


detection of insect

The series of events in which a stimulus from an insect is received and converted into a molecular signal.


polyketide biosynthetic process

The chemical reactions and pathways resulting in the formation of polyketides, any of a diverse group of natural products synthesized via linear poly-beta-ketones, which are themselves formed by repetitive head-to-tail addition of acetyl (or substituted acetyl) units indirectly derived from acetate (or a substituted acetate) by a mechanism similar to that for fatty acid biosynthesis but without the intermediate reductive steps.


fonsecin biosynthetic process

The chemical reactions and pathways resulting in the formation of fonsecin.


aspyridone A biosynthetic process

The chemical reactions and pathways resulting in the formation of aspyridone A.


mevastatin biosynthetic process

The chemical reactions and pathways resulting in the formation of mevastatin , also known as compactin or ML-236B, and which acts as a potent competitive inhibitor of HMG-CoA reductase.


erythromycin biosynthetic process

The chemical reactions and pathways resulting in the formation of erythromycin.


fumigermin biosynthetic process

The chemical reactions and pathways resulting in the formation of fumigermin, an alpha-pyrone secondary metabolite found in some species of fungi such as Aspergillus fumigatus.


oxytetracycline biosynthetic process

The chemical reactions and pathways resulting in the formation of oxytetracycline.


zearalenone biosynthetic process

The chemical reactions and pathways resulting in the formation of zearalenone, a mycotoxin produced by several Fusarium species, is most commonly found as a contaminant in stored grain and has chronic estrogenic effects on mammals.


tetracycline biosynthetic process

The chemical reactions and pathways resulting in the formation of tetracycline, (4S,4aS,5aS,6S,12aS)-4-(dimethylamino)-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide, a broad-spectrum antibiotic produced by streptomyces bacteria that blocks binding of aminoacyl tRNA to the ribosomes of both Gram-positive and Gram-negative organisms (and those of organelles).


The chemical reactions and pathways resulting in the formation of dihydroxy naphthalene (DHN)-melanin.


averantin biosynthetic process

The chemical reactions and pathways resulting in the formation of averantin.


(M)-viriditoxin biosynthetic process

The chemical reactions and pathways resulting in the formation of (M)-viriditoxin, a fungal secondary metabolite with antibacterial activity.


granaticin biosynthetic process

The chemical reactions and pathways resulting in the formation of granaticin.


ilicicolin H biosynthetic process

The chemical reactions and pathways resulting in the formation of ilicicolin H, a 4-hydroxy-2-pyridone alkaloid that has potent and broad antifungal activities by inhibiting the mitochondrial respiration chain.


aspyridone B biosynthetic process

The chemical reactions and pathways resulting in the formation of aspyridone B.


epothilone biosynthetic process

The chemical reactions and pathways resulting in the formation of epothilone, a drug obtained from the myxobacteria Sporangium cellulosum that interferes with cell division. Some epothilones are being studied as treatments for cancer.


ansamycin biosynthetic process

The chemical reactions and pathways leading to the formation of ansamycins, any of a group of complex macrolactam compounds characterized by a cyclic structure in which an aliphatic ansa chain forms a bridge between two non-adjacent positions of a cyclic p-system; many exhibit antibacterial, antifungal or antitumor activity.


F-9775A biosynthetic process

The chemical reactions and pathways resulting in the formation of F-9775A.


patulin biosynthetic process

The chemical reactions and pathways resulting in the formation of patulin, an acetate-derived tetraketide mycotoxin produced by several fungal species that shows antimicrobial properties against several bacteria.


macrolide biosynthetic process

The chemical reactions and pathways leading to the formation of macrolides, any of a large group of polyketide compounds that contain a large lactone ring with few or no double bonds and no nitrogen atoms, linked glycosidically to one or more sugar groups. The macrolides include the carbomycins, the erythromycins, oleandomycin, oligomycins, and the spiramycins, and act as antibiotics, mainly against Gram-positive bacteria.


mRNA branch site recognition

Recognition of the pre-mRNA branch site sequence by components of the assembling spliceosome.


adenylate cyclase-activating adrenergic receptor signaling pathway involved in cardiac muscle relaxation

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An adrenergic receptor signaling pathway that contributes to a reduction in cardiac muscle contraction. Beta-adrenergic receptor-induced cardiac relaxation is achieved by a GPCR-activated adenylate cyclase generating cAMP; cAMP then activates the cAMP-dependent protein kinase A (PKA), which phosphorylates the sarcoplasmic reticulum (SR) membrane protein PLB. In its non-phosphorylated state, PLB acts as an inhibitor of the ATPase Ca(2+) pump of the cardiac SR (SERCA2a); inhibition of the pump is relieved upon phosphorylation. The pump removes Ca(2+) from the cytoplasm, thereby preventing cytosolic Ca(2+)-dependent activation of contractile proteins, leading to enhanced muscle relaxation.


Hematopoietic System Finding

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Symptoms, physical examination results, and/or laboratory test results related to the hematopoietic system.


Neoplastic Plasma Cells 30 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 30 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts Under 20,000 in Peripheral Blood White Cells

A quantitative microscopic finding indicating that less than 20,000 of the total number of nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts Under 25 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Myeloblasts 1 Percent or Less of Peripheral Blood White Cells

A microscopic finding indicating that 1 percent or less of the white cells in a peripheral blood sample are myeloblasts.


Blasts 20-30 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 20 and 30 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


B-cell aplasia

A condition characterized by extremely low B-cell counts. It occurs when anti-CD19 CAR T-cells attack and kill CD19-expressing B-lymphocytes.


Blasts Expressing T-Lymphoid and Myeloid Markers Present

An indication that immature hematopoetic cells expressing T-lymphoid and myeloid markers were detected in a sample.


Lymphoblasts More Than 50 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 50 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Bone Marrow Dysplasia Present in Less than 10 Percent of Myeloid Cells

A morphologic finding indicating the presence of dysplasia in less than 10 percent of the myeloid cells in a bone marrow sample.


Blasts 30 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 30 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Monoclonal B-Lymphocytes Less Than 5 x 10^9/L in Peripheral Blood

A finding indicating the presence of less than 5 x 10^9/L monoclonal B-lymphocytes in peripheral blood.


Myeloblasts Under 5 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Blasts More than 10 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Neoplastic Plasma Cells 20 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a peripheral leukocyte sample are neoplastic plasma cells.


Myeloblasts 5 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that at least 5 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


Blasts 6-24 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 6 and 24 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Myeloblasts 5-9 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 9 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Monoblasts 80 Percent or More of Bone Marrow Monocytic Cells

A semi-quantitative microscopic finding indicating that at least 80 percent of the nucleated cells in a bone marrow sample are immature mononcytes.


Unilineage Dysplasia Present

A hematologic test result indicating dysplastic changes in only one of the myeloid cell lineages in the bone marrow.


Megakaryoblasts 50 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 50 percent of the nucleated cells in a bone marrow sample are immature megakaryocytes.


Neoplastic Monocytes and Precursors 20 Percent or More of Bone Marrow Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a bone marrow sample are neoplastic mononcytes.


Lymphoblasts 25 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating 25 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Blasts 20 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 20 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 5-9 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 9 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Bone Marrow Dysplasia Present in 10 Percent or More of the Cells of Two or More Myeloid Cell Lines

An indication that signs of dysplasia were detected in at least 10 percent of the cells from two myeloid cell lineages in a bone marrow sample


Blasts Expressing CD56 and Immature T-Cell Markers Present

An indication that immature hematopoetic cells expressing NCAM1 (CD56) and immature T-lymphoid markers were detected in a sample.


Circulating Tumor Cells Positive

An indication that tumor cells have been detected in a peripheral blood sample.


Blasts More than 60 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 60 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Chronic Hemolysis

Persisting and longstanding disruption of erythrocyte membrane integrity and the resulting release of hemoglobin.


Absolute Neutrophil Count Greater than or Equal to 500/mm3

A quantitative microscopic finding indicating that neutrophils are found at greater than or 500 per cubic millimeter field in a sample.


Eosinophilia Greater than 1500 cells per Microliter

A semi-quantitative microscopic finding indicating that more than 1500 eosinophils are present per microliter of sample.


Eosinophilopenia

Abnormally low level of eosinophils in the blood.


Blasts 20 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 20 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Alloimmune platelet transfusion refractoriness

An indication that platelet counts were not increased following one or more transfusions.


thrombocytopenia 1

An X-linked recessive bleeding disorder caused by mutation(s) in the WAS gene, encoding Wiskott-Aldrich syndrome protein, resulting in thrombocytopenia.


Lymphoblasts 1 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 1 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Neoplastic Plasma Cells 10 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts 10-20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 10 and 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Under 30 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 30 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Neoplastic Promonocytes in Bone Marrow Markedly Increased

An indication that the number of neoplastic promonocytes in a bone marrow sample have sharply increased when compared to a normal baseline or a previous sample measurement.


Blasts Under 15 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 15 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Immature Granulocytes in Peripheral Blood Under 10 Percent

A semi-quantitative microscopic finding indicating that less than 10 percent of the cells in a peripheral blood sample are immature granulocytes.


Monoclonal B-Lymphocytes More Than 5 x 10^9/L in Peripheral Blood

A finding indicating the presence of more than 5 x 10^9/L monoclonal B-lymphocytes in peripheral blood.


Myeloblasts Under 20 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating less than 20 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


Blasts More than 15 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 15 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Bone Marrow Blasts Decreased by 50 Percent or More Compared to Pretreatment Level

A semiquantitative finding indicating that the amount of immature mononuclear cells in a subject's sample of nucleated cells from bone marrow has decreased by 50 percent or more over the value recorded for a pretreatment sample from that subject.


Fetal Circulation with Increased Nucleated Erythrocytes

Increased nucleated red blood cells within the fetal circulation.


Blasts 1 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 1 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts 5 Percent or More of Bone Marrow Nucleated Cells

A microscopic finding indicating the presence of blasts constituting at least 5% of the nucleated cells in a bone marrow aspirate.


Blasts Expressing B-Lymphoid, T-Lymphoid, and Myeloid Markers Present

A finding indicating the presence of blasts with evidence of trilineage (B-cell, T-cell, and myeloid lineage) assignment.


Ring Sideroblasts Under 15 Percent of Erythroid Precursors

A semi-quantitative microscopic finding indicating less than 15 percent of the cells in a sample of erythroid precursor cells are ring sideroblasts.


Blasts 10-19 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that between 10 and 19 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Immature Myeloid Cells Increased in Bone Marrow

An increased number of myeloid precursors in the bone marrow.


Neoplastic Plasma Cells More than 50 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 50 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Myeloblasts Under 1 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating less than 10 percent of the nucleated cells in a peripheral blood sample are immature mononuclear cells of myeloid origin.


Neoplastic Plasma Cells More than 20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 20 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Cells of Monocytic Lineage 80 Percent or More of Bone Marrow Leukemic Cells

A semi-quantitative microscopic finding indicating that at least 80 percent of the nucleated cells in a bone marrow sample from a subject with leukemia are from the mononcyte lineage.


Neoplastic Plasma Cells 5 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Myeloblasts Under 10 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 10 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


Blasts More than 10000 of Peripheral Blood White Cells

A quantitative microscopic finding indicating that more than 10000 of the total number of nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


T-Cells Absent, T-Cell Receptor Signaling Defective and Natural Killer Cells and B-Cells Normal

A hematology test result indicating that a subject has a normal amount of B-cells and natural killer cells but T-cells are absent or found at abnormally low amounts and a defect in T-cell receptor signaling pathways has been observed.


Neoplastic Plasma Cells Under 5 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts 10-19 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 10 and 19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Bone Marrow Basophilia

A finding indicating abnormally high levels of basophils in a bone marrow sample.


Blasts 5 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Activated B-Cell Positive

An indication that actively proliferating and differentiating B-lymphocytes have been detected in a sample.


Blasts Less than 0.01 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 0.01 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 50 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that greater than or equal to 50 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 9 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 9 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Dual Population of Bone Marrow Blasts Present

An indication that immature hematopoetic cells from two lineages were detected in a bone marrow sample.


Myeloblasts 90 Percent or More of Bone Marrow Non-Erythroid Cells

A semi-quantitative microscopic finding indicating that at least 90 percent of the non-erythroid nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Normoblastic Erythroid Hyperplasia

A laboratory test result indicating an abnormally high quantity of immature red blood cells containing hemoglobin and a pyknotic nucleus.


Mild to Moderate Anisopoikilocytosis

A test result indicating a mild to moderate degree of anisopoikilocytosis in the peripheral blood.


Myeloblasts 10 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Blasts 0.01 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 0.01 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Circulating Blasts 4-9 Percent

A laboratory test result indicating that 4-9 percent of the cells in a peripheral blood sample are immature mononuclear cells.


Blasts Greater than or Equal to 5000 per mL

A semi-quantitative microscopic finding indicating that immature mononuclear cells are found at greater than or equal to 5000 per milliliter in a sample.


Mast Cells 20 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a bone marrow sample are mast cells.


Blasts More Than 5 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that more than 5 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Monoblasts 20 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a bone marrow sample are immature mononcytes.


Blasts 30 Percent or Less of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 30 percent or less of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts Under 20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 10 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at most 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Myeloblasts Under 2 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating less than 2 percent of the nucleated cells in a peripheral blood sample are immature mononuclear cells of myeloid origin.


Bone Marrow Dysplasia Present in 50 Percent or More of the Cells of Two Cell Lines

An indication that signs of dysplasia were detected in at least 50 percent of the cells from two hematopoietic cell lineages in a bone marrow sample


Lymphoblasts More than 10 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


neonatal thrombocytopenia

A condition characterized by a decrease in the number of platelets in the blood below established reference ranges in a newborn.


Myeloblasts Under 10 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating less than 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Blasts Under 5 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Under 5 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


T-Cells and Natural Killer Cells Absent B-Cells Normal

A hematology test result indicating that a subject has a normal amount of B-cells but both T-cells and natural killer cells are either absent or found at abnormally low amounts.


Hemolysis

Disruption of the integrity of the erythrocyte membrane causing release of hemoglobin.


Immature Granulocytes in Peripheral Blood Increased

The presence of an increased number of granulocytic leukocytes, indicating an early-stage response to infection, inflammation, or neoplastic process.


Blasts 6-25 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 6 and 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Lymphoblasts 5 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Blasts 5-20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Lymphoblasts 20 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 20 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Atypical Lymphocytes Present in Peripheral Blood

A variation of lymphocytes found in a peripheral blood smear that are larger, with abundant cytoplasm, and having nuclei with multiple nucleoli.


Chronic idiopathic neutropenia

A rare hematologic disorder characterized by neutropenia lasting more than three months with no identifiable cause.


Blasts 0 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that immature mononuclear cells are not detected when the nucleated cells in a peripheral leukocyte sample were examined.


Platelet Count 50000

Indicates a platelet count of at least 50,000 per cubic millimeter.


Hypereosinophilia of Undetermined Significance

An interim diagnosis made during the evaluation of persistent peripheral eosinophilia in asymptomatic patients that demonstrate no clinical signs of end-organ dysfunction.


Neonatal neutropenia (disorder)

A condition characterized by a decrease in the number of neutrophils in the blood below established reference ranges in a newborn.


Blasts 5-30 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 30 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


gp100:154-162-Reactive Peripheral Blood Lymphocytes Present

A laboratory test result indicating that lymphocytes reactive to amino acids 154 through 162 of the melanocyte protein PMEL (gp100) were detected in a sample.


HIV-Related Thrombocytopenia

Thrombocytopenia that occurs in patients with acquired immunodeficiency syndrome.


Megakaryocytes Increased in Bone Marrow

A laboratory test result indicating abnormally high numbers of megakaryocytes in the bone marrow.


Neoplastic Plasma Cells Under 10 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 10 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Clonal Plasma Cells in Bone Marrow

A finding indicating that clonal plasma cells have been detected in a bone marrow sample.


Blasts 2-4 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that between 2 and 4 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts 5-25 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts More Than 75 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that greater than 75 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 1 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 1 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Lymphoblasts 5-25 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


thrombocytopenia 2

An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.


Myeloblasts 10-19 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 10 and 19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Myeloblasts More than 5 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Blasts Under 30 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 30 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Mast Cells 10 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a bone marrow sample are mast cells.


myelophthisic anemia

A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells.


Neoplastic Plasma Cells Present in Bone Marrow

A finding indicating that neoplastic plasma cells were detected in a bone marrow sample.


Neoplastic Plasma Cells 20 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 20 percent or less of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts 21-30 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 21-30 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Lymphoblasts 5 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Myeloblasts 5-19 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5-19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


CD5-Positive Blast Cells Greater than 50 Percent

A semi-quantitative microscopic finding indicating that more than 50% of the immature blood cells in a sample express CD5.


Blasts More than 25 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Neoplastic Plasma Cells 5 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that at least 5 percent of the leukocytes in a peripheral blood sample are neoplastic plasma cells.


Blasts 20,000 or Less of Peripheral Blood White Cells

A quantitative microscopic finding indicating that 20,000 or fewer nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts More than 5 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Under 10 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Less Than 50 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 50 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Severe Myelosuppression

Severe reduction of bone marrow function secondary to drug treatment. It results in anemia, leukopenia, and thrombocytopenia.


Platelet Count 20000

Indicates a platelet count of at least 20,000 per cubic millimeter.


Prolymphocytes Exceed 55 Percent of Lymphoid Cells in the Peripheral Blood

A semi-quantitative microscopic finding indicating that more than 55 percent of the lymphoid cells in a peripheral blood sample are prolymphocytes.


Peripheral Blood Basophilia

A finding indicating abnormally high levels of basophils in a peripheral blood sample.


Myeloblasts 5 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Myeloblasts Under 5 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


T-Cells and B-Cells Absent and Natural Killer Cells Normal

A hematology test result indicating that a subject has a normal amount of natural killer cells but B-cells and T-cells are either absent or found at abnormally low amounts.


Blasts 15 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at most 15 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Decrease in Blasts

A semi-quantitative microscopic finding indicating that the amount of immature mononuclear cells in a sample from a certain subject has decreased when compared to a prior sample from the same subject.


Lymphoblasts Less than 5 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Granulocytes Increased in Bone Marrow

An indication that the number of granulocytes in a bone marrow sample have increased when compared to a normal baseline or a previous sample measurement.


Blasts 2 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 2 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blast Cells Present

A laboratory test result indicating the presence of blast cells in a blood sample.


Blasts 6 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 6 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Under 15 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 15 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 50 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 50 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


T-Cells, B-Cells and Natural Killer Cells Absent

A hematology test result indicating that a subject's T-cells, B-cells and natural killer cells are either absent or found at abnormally low amounts.


Bi-Cytopenia

A deficiency of two of the three blood cell lineages; erythrocytes, leukocytes and platelets.


Blasts 20 Percent or Less of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 20 percent or less of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Benign Ethnic Neutropenia

Chronic neutropenia in the absence of secondary causes, other cytopenia, splenomegaly, lymphadenopathy, or increased risk of infection. It occurs more frequently in individuals of African, Middle Eastern, and West Indian descent.


Neoplastic Plasma Cells 10-60 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 10 and 60 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Neoplastic Plasma Cells Under 5 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a peripheral leukocyte sample are neoplastic plasma cells.


Erythroid Precursors 80 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 80 percent of the nucleated cells in a bone marrow sample are immature cells of the erythroid lineage.


Blasts 5 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Neoplastic Plasma Cells Between 20 and 50 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 20 and 50 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Atypical Lymphocytes Present in Bone Marrow

A finding indicating that atypical lymphocytes were detected in a bone marrow sample.


Neoplastic Plasma Cells Under 50 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 50 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts 25 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 25 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Neoplastic Plasma Cells 60 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 60 percent or more of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts More than 20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 60 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 60 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Neoplastic Plasma Cells More than 30 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 30 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Neoplastic Plasma Cells 10-59 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 10 and 59 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Neoplastic Promyelocytes in Bone Marrow Markedly Increased


Myeloblasts 1 Percent of Peripheral Blood White Cells

A microscopic finding indicating that 1 percent of the white cells in a peripheral blood sample are myeloblasts.


Hemoglobinuria due to hemolysis from external causes

Hemoglobin in the urine that is due to hemolysis from an external cause.


Neoplastic Plasma Cells Under 20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that less than 20 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Aberrant Clonal Plasma Cell Population

A population of plasma cells which display atypical morphological features, an abnormal immunophenotypic profile, and molecular genetic characteristics of clonality (monoclonality).


Blasts Less than or Equal to 10000/mm3

A quantitative microscopic finding indicating that immature mononuclear cells are found at less than or equal to 10000 per cubic millimeter field in a sample.


Erythroid Series Cells Decreased

A morphologic finding indicating the presence of a decreased number of erythroid cells in the bone marrow.


Blasts Expressing B-Lymphoid and T-Lymphoid Markers Present

A finding indicating the presence of blasts with evidence of both B-cell and T-cell lineage assignment.


Chemotherapy Related Agranulocytosis

Agranulocytosis that occurs with chemotherapy.


Drug Induced Thrombocytopenia

Thrombocytopenia caused by ingested or injected drugs. It may be the result of decreased platelet production due to bone marrow suppression or increased rate of platelet destruction.


Blasts 0.1 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 0.1 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Expressing B-Lymphoid and Myeloid Markers Present

An indication that immature hematopoetic cells expressing B-lymphoid and myeloid markers were detected in a sample.


Peripheral Blood Eosinophilia

A finding indicating abnormally high levels of eosinophils in a peripheral blood sample.


Blasts of Mixed Phenotype Present

An indication that immature hematopoetic cells from two or more lineages were detected in a sample.


Myeloblasts 20 Percent or More of Bone Marrow Non-Erythroid Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the non-erythroid nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Blasts 25 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 25 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells.


A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus).


Myeloblasts Under 20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating less than 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Neoplastic Granulocytes and Precursors 20 Percent or More of Bone Marrow Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a bone marrow sample are comprised of neoplastic cells with features of the granulocyte lineage.


Basophilopenia

Abnormally low level of basophils in the blood.


Pancytopenia caused by medication

Pancytopenia caused by exposure to certain drugs.


Blasts 5-19 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Ineffective Hematopoiesis

A dysfunction in the production of blood cells, resulting in decreased numbers of mature, functioning blood cells of all lines in circulation.


Myeloblasts 20 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Homozygous Hemoglobin C or E, Non-Disease

A state in which both beta-globin alleles code for a C or E variant but which leads to such minor changes to the hemoglobin that it does not cause disease.


T-Cells Absent and Normal Natural Killer Cells and B-Cells

A hematology test result indicating that a subject has a normal amount of B-cells and natural killer cells but T-cells are either absent or found at abnormally low amounts.


Bone Marrow Dysplasia Present

A laboratory test result indicating abnormal bone marrow cells.


Neoplastic Plasma Cells Between 10 and 30 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 10 and 30 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts 75 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 75 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Erythroid Precursors 50 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 50 percent of the nucleated cells in a bone marrow sample are immature cells of the erythroid lineage.


Ring Sideroblasts 15 Percent or More of Erythroid Precursors

A semi-quantitative microscopic finding indicating 15 percent or more of the cells in a sample of erythroid precursor cells are ring sideroblasts.


Blasts 30,000 or Less of Peripheral Blood White Cells

A quantitative microscopic finding indicating that 30,000 or fewer nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Myeloblasts 5 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Neoplastic Plasma Cells 30 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 30 percent or less of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Lymphoma Cells More than 25 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that more than 25 percent of the nucleated cells in a bone marrow sample are lymphoma-derived cells.


Blasts 11-20 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 11 and 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Under 20 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 20 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Bone Marrow Blasts Percentage Decreased by 5 to 25 Percent

A semiquantitative finding indicating that the amount of immature mononuclear cells in a subject's sample of nucleated cells from bone marrow has decreased by between 5 and 25 percent from a previous percentage recorded for a sample from that subject.


Blasts 5 Percent or Less of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blasts 30 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 30 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Autoimmune cytopenia

Cytopenia caused by autoantibodies against the red blood cells, neutrophils, and/or platelets.


Hypercellular Bone Marrow

An abnormal finding in a bone marrow aspirate or biopsy specimen indicating increased cellularity. It can result from hyperplasia of one or more hematopoietic cell lines or malignant neoplasms that affect the bone marrow.


Myeloblasts Present

A microscopic finding indicating the presence of immature mononuclear cells of myeloid origin in a sample.


Neoplastic Plasma Cells 40 Percent or Less of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that 40 percent or less than of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


BCR-JAK2 Fusion in Hematologic Malignancies

An extremely rare finding in hematologic malignancies indicating an association with BCR-JAK2 fusion gene that results from t(9;22)(p24;q11.2). Most cases exhibit chronic myelogenous leukemia-type phenotype.


Neoplastic Plasma Cells 10 Percent of Bone Marrow Nucleated Cells

A microscopic finding indicating that 10 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Blasts 5-19 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 5-19 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Low Natural Killer Cell Activity

A decrease in the ability of peripheral mononuclear blood cells to lyse MHC I deficient target cells either due to low numbers of natural killer cells, or a reduction of their lytic activity.


Blasts 5-10 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 5 and 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Lymphoblasts 5 Percent or More of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of lymphoid origin.


Blasts 10 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 2 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 2 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts 1 Percent or More of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that at least 1 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Blasts Increased by Greater than or Equal to 50 Percent

A semi-quantitative microscopic finding indicating that the amount of immature mononuclear cells in a sample from a certain subject has increased by at least 50 percent over a prior sample from the same subject.


Blasts Under 10 Percent of Peripheral Blood White Cells

A semi-quantitative microscopic finding indicating that less than 10 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Neoplastic Plasma Cells More than 5 Percent of Peripheral Blood White Cells

A microscopic finding indicating that more than 5 percent of the nucleated cells in a peripheral leukocyte sample are neoplastic plasma cells.


Blasts 6-19 Percent of Bone Marrow Nucleated Cells

A semi-quantitative microscopic finding indicating that between 6 and 19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Multilineage Dysplasia Present

A hematologic test result indicating dysplastic changes in two or more of the myeloid cell lineages in the bone marrow.


fatty acyl-CoA reductase 1 upregulation

A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids.


fatty acyl-CoA reductase defects

Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene.


positive regulation of microtubule minus-end binding

Any process that activates or increases the frequency, rate or extent of microtubule minus-end binding.


positive regulation of substance P receptor binding

Any process that activates or increases the frequency, rate or extent of substance P receptor binding.


positive regulation of cytokine activity

Any process that increases the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells.


positive regulation of apolipoprotein binding

Any process that activates or increases the frequency, rate or extent of apolipoprotein binding.


positive regulation of low-density lipoprotein particle receptor binding

Any process that activates or increases the frequency, rate or extent of low-density lipoprotein particle receptor binding.


positive regulation of actin binding

Any process that activates or increases the frequency, rate or extent of actin binding.


positive regulation of actin filament binding

Any process that activates or increases the frequency, rate or extent of actin filament binding.


positive regulation of C-C chemokine binding

Any process that activates or increases the frequency, rate or extent of C-C chemokine binding.


positive regulation of heparan sulfate proteoglycan binding

Any process that activates or increases the frequency, rate or extent of heparan sulfate proteoglycan binding.


positive regulation of small GTPase binding

Any process that activates or increases the frequency, rate or extent of small GTPase binding.


positive regulation of growth hormone activity

Any process that activates or increases the frequency, rate or extent of growth hormone activity.


age related macular degeneration 4

Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene.


age related macular degeneration 13

An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the CFI gene.


melioidosis

An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration.


mitochondrial mRNA 5'-end processing

Any process involved in forming the mature 5' end of an mRNA molecule that derives from the mitochondrial genome.


negative regulation of conidium formation

Any process that stops, prevents, or reduces the frequency, rate or extent of conidium formation, a process of producing non-motile spores, called conidia, via mitotic asexual reproduction in higher fungi. Conidia are haploid cells genetically identical to their haploid parent. They are produced by conversion of hyphal elements, or are borne on sporogenous cells on or within specialized structures termed conidiophores, and participate in dispersal of the fungus.


response to cytokinesis checkpoint signaling

A process that occurs in response to signals generated as a result of cytokinesis checkpoint signaling.


regulation of ascospore wall chitin catabolic process

Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of ascospore wall chitin.


Mixed phenotype acute leukemia T/myeloid

A rare mixed phenotype acute leukemia in which the blasts express T-lymphoid and myeloid lineage markers but are negative for KMT2A rearrangement and t(9;22)(q34;q11.2) translocation. The prognosis is usually unfavorable.


Catalysis of the reaction: 5-hydroxy-2-oxo-4-ureido-2,5-dihydro-1H imidazole-5-carboxylate + H+ = S-allantoin + CO2.


Stage M1 Embryonal Tumor with Multilayered Rosettes

Microscopic tumor cells are detected in the cerebrospinal fluid. (Chang CH, Housepian EM, Herbert C. Radiology, 1969; 93(6):1351-9.)


negative regulation of formin-nucleated actin cable assembly

Any process that decreases the rate, frequency, or extent of formin-nucleated actin cable assembly. Formin-nucleated actin cable assembly is the aggregation, arrangement and bonding together of a set of components to form a formin-nucleated actin cable. A formin-nucleated actin cable is an actin filament bundle that consists of short filaments organized into bundles of uniform polarity, and is nucleated by formins.


isoamylase activity

Catalysis of the hydrolysis of alpha-(1,6)-D-glucosidic branch linkages in glycogen, amylopectin and their beta-limits dextrins.


subiliac lymph node

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A lymph node located inferior to the ilium.


middle lateral line ganglion

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The middle lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the middle lateral line.


Prostate Acinar Adenocarcinoma, Atrophic Pattern

An unusual variant of acinar prostate adenocarcinoma characterized by the presence of neoplastic small atrophic glands that contain malignant cells with scant cytoplasm.


ceroid lipofuscinosis, neuronal, 6A

A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


Circular Ligament of the Tooth

A ligament located in the lamina propria of the marginal gingiva that encircles the tooth.


multiple epiphyseal dysplasia, with severe proximal femoral dysplasia

Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.


Prostate cancer stage C

Tumor is clinically localized to the periprostatic area, but extends through the prostatic capsule; the seminal vesicles may be involved.


non-severe combined immunodeficiency due to polymerase delta deficiency

Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene.


ear neoplasm

A neoplasm (disease) that involves the ear.


perichondritis of auricle

An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.


congenital corneal opacities, cornea guttata, and corectopia


chronic eustachian salpingitis

Chronic form of otosalpingitis.


acute perichondritis of pinna

Acute form of perichondritis of auricle.


acute infection of pinna

An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.


benign neoplasm of middle ear

A benign neoplasm that involves the middle ear.


autoimmune inner ear disease

A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible.


space motion sickness

Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)


external ear neoplasm

A neoplasm (disease) that involves the external ear.


cholesteatoma of external ear

A cholesteatoma (disease) that involves the external ear.


acute eustachian salpingitis

Acute form of otosalpingitis.


chronic fungal otitis externa

Chronic form of otomycosis.


otomycosis

Fungus infection of the external ear, usually by aspergillus species


external ear lipoma

A benign adipose tissue neoplasm of the external ear.


chronic tubotympanic suppurative otitis media

A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections.


chronic tympanitis

Chronic form of tympanitis.


middle ear disorder

A disease involving the middle ear.


acute allergic mucoid otitis media

A blue drum syndrome caused by an allergen.


benign neoplasm of ear

A benign neoplasm that involves the ear.


myringitis bullosa hemorrhagica

A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection.


active cochleovestibular Meniere disease


infectious otitis media

Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space.


acute sanguinous otitis media

A acute transudative otitis media which involves bloody effusion.


middle ear neuroendocrine tumor

A neuroendocrine neoplasm that involves the middle ear.


inner ear cancer

A malignant neoplasm involving the internal ear.


benign paroxysmal positional vertigo

Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed.


suppurative otitis media

Inflammation of the middle ear with purulent discharge.


chronic perichondritis of pinna

Chronic form of perichondritis of auricle.


chronic non-suppurative otitis media

Chronic form of non-suppurative otitis media.


internal auditory canal lipoma

A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures.


non-suppurative otitis media

A otitis media which involves transudation of fluid in the middle ear without pus formation.


internal auditory canal meningioma

A meningioma that affects the internal auditory canal.


patulous eustachian tube

A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.


acute serous otitis media

A acute transudative otitis media with thin, watery and sterile effusion.


chronic purulent otitis media

Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane.


acute transudative otitis media

Acute form of non-suppurative otitis media.


acute allergic sanguinous otitis media

A acute sanguinous otitis media caused by an allergen.


external ear cancer

A malignant neoplasm involving the external ear.


serous glue ear

Chronic form of serous otitis media.


X-linked mixed hearing loss with perilymphatic gusher

X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.


cholesteatoma of attic

A cholesteatoma in the attic


cholesteatoma of middle ear

A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear.


purulent acute otitis media

Acute form of suppurative otitis media.


acute otitis externa

Acute form of otitis externa.


blue drum syndrome

A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.


cochlear disorder

Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph).


malignant otitis externa

An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.


allergic otitis media

A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction.


acute allergic serous otitis media

A acute serous otitis media caused by an allergen.


endolymphatic hydrops

An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo.


chronic atticoantral disease

A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection.


malignant otitis externa caused by Pseudomonas aeruginosa

An malignant otitis externa caused by infection with Pseudomonas aeruginosa.


phacogenic glaucoma

Secondary glaucoma caused by either excessive size or spheric shape of the lens.


phacolytic glaucoma

An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens.


noradrenergic neuron fate commitment involved in brainstem development

The process in which the developmental fate of a cell becomes restricted such that it will develop into a noradrenergic neuron that is part of the brainstem.


Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: lactate (out) + H+ (out) = lactate (in) + H+ (in).


Colorectal Traditional Serrated Adenoma

An adenoma that arises from the colon or rectum.  It is characterized by prominent serration of the glands.


Colon Traditional Serrated Adenoma

An adenoma that arises from the colon.  It is characterized by prominent serration of the glands.


Colorectal Filiform Serrated Adenoma

A traditional serrated adenoma that arises from the colon or rectum.  It is characterized by the presence of prominent villous projections of the neoplastic epithelium.


peptide cross-linking via 2-(S-L-cysteinyl)-L-phenylalanine

The cross-linking of a cysteine residue to an L-phenylalanine residue to form 2-(S-L-cysteinyl)-L-phenylalanine.


hyperuricemic nephropathy, familial juvenile type 4

Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.


negative regulation of hematopoietic stem cell proliferation

Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic stem cell proliferation.


negative regulation of mesenchymal stem cell proliferation

Any process that stops, prevents or reduces the frequency, rate or extent of mesenchymal stem cell proliferation.


system development

The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process.


open tracheal system development

The process whose specific outcome is the progression of an open tracheal system over time, from its formation to the mature structure. An open tracheal system is a respiratory system, a branched network of epithelial tubes that supplies oxygen to target tissues via spiracles. An example of this is found in Drosophila melanogaster.


reproductive shoot system development

The process whose specific outcome is the progression of a reproductive shoot system over time, from its formation to the mature structure.


inflorescence development

The process whose specific outcome is the progression of an inflorescence over time, from its formation to the mature structure.


electrosensory lateral line system development

The process whose specific outcome is the progression of the electrosensory lateral line system over time, from its formation to the mature structure.


somatic sensory system development

The process whose specific outcome is the progression of a somatic sensory system over time from its formation to the mature structure. Somatic sensory system is the sensory system for the sense of touch and pain.


mechanosensory lateral line system development

The process whose specific outcome is the progression of the mechanosensory lateral line system over time, from its formation to the mature structure. The mechanosensory lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head and body of all fishes and most amphibians. The neuromasts are innervated by several lateral line nerves, which project primarily to the hindbrain. The mechanosensory lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance.


flower development

The process whose specific outcome is the progression of the flower over time, from its formation to the mature structure. The flower is the reproductive structure in a plant, and its development begins with the transition of the vegetative or inflorescence meristem into a floral meristem.


visual system development

The process whose specific outcome is the progression of the visual system over time, from its formation to the mature structure, including the eye, parts of the central nervous system (CNS) involved in processing of visual inputs, and connecting nerve pathways.


lateral line system development

The process whose specific outcome is the progression of the lateral line system over time, from its formation to the mature structure. The lateral line system is a network of sensory organs (neuromasts) and lateral line nerves located superficially on the skin or just under the skin in fluid-filled canals on the head and body of all fishes and most amphibians. The lateral line system develops from cranial ectodermal placodes situated between the eye and ear.


shoot regeneration

The regeneration process by which a damaged or lost shoot regrows or re-differentiates. This process may occur via de-differentiation and subsequent reprogramming of somatic cells or activation of existing undifferentiated (meristematic) cells to produce a new shoot meristem and subsequently a new shoot.


anterior lateral line system development

The process whose specific outcome is the progression of the anterior lateral line system over time, from its formation to the mature structure. The anterior lateral line system develops from cranial ectodermal placodes, situated between the eye and the ear, that give rise to both the neuromasts and the anterior lateral line sensory nerves that innervate the neuromasts. The anterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians and are innervated by several lateral line nerves, which project to the hindbrain. The anterior lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance.


hypaxial region somite 2

The hypaxial region of somite 2 derived body wall muscle. The hypaxial region is ventral to the horizontal myoseptum. Kimmel et al, 1995.


mammary gland duct cavitation

Creation of the central hole of the mammary gland duct by the hollowing out of a solid rod.


myofibrillar myopathy 3

A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.


positive regulation of calcium-mediated signaling involved in cellular response to calcium ion

Any positive regulation of calcium-mediated signaling that is involved in cellular response to calcium ion.


pheromone binding

Binding to a pheromone, a substance, or characteristic mixture of substances, that is secreted and released by an organism and detected by a second organism of the same or a closely related species, in which it causes a specific reaction, such as a definite behavioral reaction or a developmental process.


Penile Glomus Tumor

A glomus tumor that occurs in the penis.


Bone Glomus Tumor

A benign or malignant glomus tumor arising from the bone.


Glomus Tumor of Uncertain Malignant Potential

A glomus tumor that shows atypical characteristics and has borderline malignant potential.


Solid Glomus Tumor

The most common morphologic variant of glomus tumor.  It is characterized by the presence of a nest of glomus cells surrounding capillary sized vessels.


Benign Glomus Tumor

A glomus tumor of small size characterized by the absence of nuclear atypia and mitotic activity.


Gastric Glomus Tumor

A rare glomus tumor that arises from the stomach.  It is seen in adults, especially women.  The majority of cases follow a benign clinical course.


glomuvenous malformation

Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin.


collagen fibril binding

Binding to a collagen fibril.


peroxisome biogenesis disorder type 3B

A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.


Stage IVA Ovarian Cancer AJCC v8

Stage IVA includes: Any T, Any N, M1a. M1a: Ovarian cancer with pleural effusion with positive cytology. (from AJCC 8th Ed.)


Stage IV Ovarian Cancer AJCC v8

Stage IV includes: Any T, Any N, M1: M1: Distant metastasis, including pleural effusion with positive cytology; liver or splenic parenchymal metastasis; metastasis to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); and transmural involvement of intestine. (from AJCC 8th Ed.)


Stage IVB Ovarian Cancer AJCC v8

Stage IVB includes: Any T, Any N, M1b. M1b: Ovarian cancer with liver or splenic parenchymal metastases; metastases to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); transmural involvement of intestine. (from AJCC 8th Ed.)


positive regulation of pole plasm oskar mRNA localization

Any process that activates or increases the frequency, rate or extent of the process in which oskar mRNA is transported to, or maintained in, the oocyte pole plasm.


smallpox

A condition that is caused by infection with Variola, and that is characterized by small, raised bumps.


Modified smallpox

Smallpox that occurs in an individual who has been vaccinated.


Testicular Germ Cell Neoplasia In Situ with Extratubular Extension

A malignant neoplasm that arises from the testis and is characterized by the presence of large germ cells with abundant cytoplasm in the seminiferous tubules, associated with an invasive germ cell tumor in the adjacent tissues.


23S rRNA (guanine(745)-N(1))-methyltransferase activity

Catalysis of the reaction: S-adenosyl-L-methionine + guanine(745) in 23S rRNA = N(1)-methylguanine(745) in 23S rRNA + S-adenosyl-L-homocysteine.


trisomy 9p

Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.


L-alanine biosynthetic process via ornithine

The chemical reactions and pathways resulting in the formation of L-alanine, via the intermediate ornithine.


L-alanine biosynthetic process

The chemical reactions and pathways resulting in the formation of L-alanine, the L-enantiomer of 2-aminopropanoic acid, i.e. (2S)-2-aminopropanoic acid.


L-alanine biosynthetic process from pyruvate

The chemical reactions and pathways resulting in the formation of alanine from other compounds, including pyruvate.


deep parotid lymph node

The deep parotid lymph nodes are lymph nodes found below the parotid gland. The afferents of the subparotid glands drain the nasal part of the pharynx and the posterior parts of the nasal cavities. Their efferents pass to the superior deep cervical glands.


infra-auricular lymph node

The infra-auricular deep parotid lymph nodes are a group of lymph nodes found underneath the ear.


viral head-tail joining

Process by which virus heads and tails are attached to each other.


positive regulation of membrane repolarization during ventricular cardiac muscle cell action potential

Any process that activates or increases the frequency, rate or extent of membrane repolarization during ventricular cardiac muscle cell action potential.


regulation of cardiac muscle cell membrane repolarization

Any process that modulates the establishment or extent of a change in membrane potential in the polarizing direction towards the resting potential in a cardiomyocyte.


negative regulation of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization

Any process that stops, prevents or reduces the frequency, rate or extent of voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization.


negative regulation of membrane repolarization during atrial cardiac muscle cell action potential

Any process that stops, prevents or reduces the frequency, rate or extent of membrane repolarization during atrial cardiac muscle cell action potential.


positive regulation of membrane repolarization during cardiac muscle cell action potential

Any process that activates or increases the frequency, rate or extent of membrane repolarization during cardiac muscle cell action potential.


positive regulation of voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization

Any process that activates or increases the frequency, rate or extent of voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization.


regulation of membrane repolarization during ventricular cardiac muscle cell action potential

Any process that modulates the frequency, rate or extent of membrane repolarization during ventricular cardiac muscle cell action potential.


negative regulation of membrane repolarization during ventricular cardiac muscle cell action potential

Any process that stops, prevents or reduces the frequency, rate or extent of membrane repolarization during ventricular cardiac muscle cell action potential.


positive regulation of membrane repolarization during atrial cardiac muscle cell action potential

Any process that activates or increases the frequency, rate or extent of membrane repolarization during atrial cardiac muscle cell action potential.


regulation of membrane repolarization during cardiac muscle cell action potential

Any process that modulates the frequency, rate or extent of membrane repolarization during cardiac muscle cell action potential.


regulation of membrane repolarization during atrial cardiac muscle cell action potential

Any process that modulates the frequency, rate or extent of membrane repolarization during atrial cardiac muscle cell action potential.


regulation of voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization

Any process that modulates the frequency, rate or extent of voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization.


negative regulation of voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization

Any process that stops, prevents or reduces the frequency, rate or extent of voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization.


negative regulation of membrane repolarization during cardiac muscle cell action potential

Any process that stops, prevents or reduces the frequency, rate or extent of membrane repolarization during cardiac muscle cell action potential.


Advanced Rectal Squamous Cell Carcinoma

Rectal squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Metastatic Rectal Squamous Cell Carcinoma

Rectal squamous cell carcinoma that has spread from the original site of growth to other anatomic sites.


Locally Advanced Rectal Squamous Cell Carcinoma

Rectal squamous cell carcinoma that has spread to nearby tissues or lymph nodes.


Catalysis of the reaction: adenosylcobinamide-GDP + alpha-ribazole = GMP + adenosylcobalamin.


mediastinitis

An inflammatory process affecting the mediastinum.


nail of pedal digit

A nail that is part of a pedal digit.


peptidyl-methionine racemization

The racemization of peptidyl-methionine.


chiral amino acid racemization

The formation of a mixture of the two possible enantiomers from the D- or L-enantiomer of a chiral amino acid.


peptidyl-tryptophan racemization

The racemization of peptidyl-tryptophan.


peptidyl-leucine racemization

The racemization of peptidyl-leucine.


peptidyl-D-alanine racemization, direct

The racemization of peptidyl-alanine.


peptidyl-D-alanine racemization via peptidyl-L-serine

The dehydration of peptidyl-serine, followed by hydrogenation to produce peptidyl-D-alanine.


peptidyl-threonine racemization

The racemization of peptidyl-L-threo-threonine at the alpha-carbon to form D-allo-threonine. This is coupled with the formation of the cross-link 2-(S-L-cysteinyl)-D-allo-threonine.


peptidyl-D-alanine racemization

The formation of peptidyl-D-alanine, by either racemization or from peptidyl-L-serine.


peptidyl-isoleucine racemization

The racemization of peptidyl-isoleucine.


peptidyl-phenylalanine racemization

The racemization of peptidyl-phenylalanine.


peptidyl-L-amino acid racemization

The process of conversion of a L-amino acid into its enantiomer, the corresponding D-amino acid.


peptidyl-serine racemization

The racemization of peptidyl-serine.


positive regulation of inflammatory response to wounding

Any process that activates or increases the frequency, rate or extent of the inflammatory response to wounding.


extrahepatic bile duct epithelium

An epithelium that is part of a extrahepatic bile duct [Automatically generated definition].


kidney pelvis urothelium

The epithelial lining of the luminal space of the kidney pelvis.


simple columnar epithelium

Unilaminar epithelium, which consists of a single layer of columnar cells. Examples: ciliated columnar epithelium, gastric epithelium, microvillus columnar epithelium.[FMA].


epithelium of urethra

The urethra is a renal system organ that carries urine from the bladder to outside the body. The epithelium is the tubular, planar layer of cells through which the urine passes..


unilaminar epithelium

Epithelium which consists of a single layer of epithelial cells. Examples: endothelium, mesothelium, glandular squamous epithelium.[FMA].


urethra urothelium

An urothelium that is part of a urethra [Automatically generated definition].


bile duct epithelium

Any epithelium that lines one of the bile ducts.


epithelium of conjunctiva

Layer of nonkeratinized squamous epithelium lining the conjunctiva, overlying scleral tissue.


nephron tubule epithelium

The cellular avascular layer of the renal tubule luminar surfaces.


cuboidal epithelium

An epithelium consisting of cuboidal epithelial cells.


epithelium of oropharynx

An epithelium that is part of a oropharynx [Automatically generated definition].


Pigment Epithelium

Tissue consisting of one or more layers of epithelial cells and a basement membrane. The cells contain granules of pigment or melanin, as in the retinal or iris pigment layer.


germinal epithelium of ovary

Layer of simple cuboidal cells covering surface of ovary[WP].


fourth ventricle choroid plexus epithelium

A choroid plexus epithelium that is part of a fourth ventricle [Automatically generated definition].


epithelium of vagina

The epithelial layer of the vagina.


stratified cuboidal epithelium

Stratified cuboidal epithelia is a rare type of epithelial tissue composed of cuboidally shaped cells arranged in multiple layers. They protect areas such as ducts of sweat glands, mammary glands, and salivary glands.


epithelium of esophagus

The epithelial layer that lines the luminal space of the esophagus.


cervix epithelium

An epithelium that is part of a uterine cervix [Automatically generated definition].


Transitional epithelium

Stratified epithelium that changes shape from cuboidal to squamous when stretched without losing strength or consistency. This type of epithelium is found in the urinary tract.


Endometrial Tissue

The mucous membrane comprising the inner layer of the uterine wall; it consists of a simple columnar epithelium and a lamina propria that contains simple tubular uterine glands. The structure, thickness, and state of the endometrium undergo marked change with the menstrual cycle.


stratified columnar epithelium

Stratified columnar epithelia is a rare type of epithelial tissue composed of column shaped cells arranged in multiple layers. Stratified columnar epithelia are found in the ocular conjunctiva of the eye, in parts of the pharynx and anus, the female's uterus, the male urethra and vas deferens. Also found in intralobular ducts in salivary glands.[WP].


epithelium of gonad

An epithelium surrounding a gonad.


simple cuboidal epithelium

Unilaminar epithelium that consists of a single layer of cuboidal cells.


Urinary bladder transitional epithelium

The epithelium of the bladder, which consists of multiple layers of transitional cells.


simple squamous epithelium

Unilaminar epithelium which consists of a single layer of squamous cells. Examples: pulmonary alveolar epithelium, endothelium.[FMA].


prostate epithelium

The prostate epithelium.


ciliary epithelium

A double layer covering the ciliary body that produces aqueous humor.


Rathke's pouch

A pouch of ectoderm that grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland[MP]. In embryogenesis, Rathke's pouch is a depression in the roof of the developing mouth in front of the buccopharyngeal membrane. It gives rise to the anterior pituitary (adenohypophysis), a part of the endocrine system[WP].


seminiferous tubule epithelium

The stratified epithelial lining of the seminiferous tubules, consisting of the developing spermatozoa and the supporting Sertoli cells, which are tall, columnar type cells that line the tubule.


oral epithelium

An epithelium that is part of the mouth and lines the oral cavity, typically stratified squamous, and may be para-, ortho- or non- keratinized. Primary barrier between oral environment and deeper tissues.


lateral ventricle choroid plexus epithelium

A choroid plexus epithelium that is part of a lateral ventricle [Automatically generated definition].


male prepuce epithelium

An epithelium that is part of a prepuce of penis [Automatically generated definition].


vagina squamous epithelium

A squamous epithelium that is part of a vagina.


intrahepatic bile duct epithelium

An epithelium that is part of a intrahepatic bile duct [Automatically generated definition].


Lactiferous terminal ductal lobular unit

The epithelial structures within the breast that produce milk during lactation.


lens anterior epithelium

A layer of cuboidal epithelial cells bounded anteriorly by the capsule of the lens and posteriorly by the lens cortex.


cervix squamous epithelium

The squamous epithelium of the cervical portio is similar to that of the vagina, except that it is generally smooth and lacks rete pegs. Colposcopically, it appears featureless except for a fine network of vessels which is sometimes visible. The relative opacity and pale pink coloration of the squamous epithelium derives from its multi-layered histology and the location of its supporting vessels below the basement membrane.


pigmented layer of retina

A monolayer of pigmented epithelium covering the neural retina; develops from the outer of the two layers of the optic cup[ZFA]. the pigmented cell layer just outside the neurosensory retina that nourishes retinal visual cells, and is firmly attached to the underlying choroid and overlying retinal visual cells[WP].


epithelium of crypt of Lieberkuhn

An epithelium that is part of a crypt of Lieberkuhn.


stratified squamous epithelium

Multilaminar epithelium which consists of more than one layer of squamous cells only one layer of which is in contact with a basement membrane. Examples: keratinized stratified squamous epithelium, epithelium of wall of esophagus.[FMA].


urachus epithelium

An epithelium that is part of a urachus.


dental epithelium

Epithelium that is part of a developing tooth or dental organ.