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

biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

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

biolink:Pathway biolink:BiologicalProcess biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:OntologyClass biolink:Occurrent biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

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.


adenylate cyclase-activating adrenergic receptor signaling pathway involved in positive regulation of heart rate

An adrenergic receptor signaling pathway that contributes to an increase in frequency or rate of heart contraction. Binding of adrenalin or noradrenalin to a beta-adrenergic receptor on the surface of the signal-receiving cell results in the activation of an intracellular Gs protein. Gs activates adenylate cyclase to increase intracellular cyclic-AMP (cAMP) levels. cAMP binds directly to F-channels to allow an inward flow of sodium (known as funny current, or If current). The funny current is responsible for membrane depolarization and an increase in heart rate.


adenylate cyclase-activating adrenergic receptor signaling pathway involved in regulation of heart rate

An adrenergic receptor signaling pathway that modulates the frequency or rate of heart contraction.


positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction

An adrenergic receptor signaling pathway that contributes to an increase in frequency or rate of cardiac muscle contraction through phosphorylation and enhancement of the ryanodine receptor, a calcium-activated calcium-release channel found in the membrane of the sarcoplasmic reticulum. An adrenergic receptor-activated adenylate cyclase generates cAMP. cAMP then activates the cAMP-dependent protein kinase A (PKA), which phosphorylates the ryanodine receptor (RyR). PKA-phosphorylation of RyR enhances channel activity by sensitizing the channel to cytosolic calcium. Cytosolic calcium stimulates contractile proteins to promote muscle contraction.


Hematopoietic System Finding

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

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

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

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.


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.


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.


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.


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.


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.


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.


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 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.


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 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


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.


Neonatal neutropenia (disorder)

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


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.


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.


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.


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 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.


Bone Marrow Eosinophilia

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


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.


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.


Tumor-Associated Lymphocytosis

A laboratory test result indicating an abnormal increase in the number of lymphocytes in a sample from a subject with a tumor.


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.


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.


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.


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.


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 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.


Myeloblasts Present

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


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.


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.


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 MLL translocation and t(9;22)(q34;q11.2) translocation.  The prognosis is usually unfavorable.


biolink:MolecularActivity biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:Occurrent biolink:OntologyClass biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

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


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

biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

A lymph node located inferior to the ilium.


middle lateral line ganglion

biolink:AnatomicalEntity biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssence biolink:SubjectOfInvestigation biolink:ThingWithTaxon biolink:PhysicalEssenceOrOccurrent

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 Variant

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


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.


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.


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.


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.


Dahlberg-Borer-Newcomer syndrome

Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.


PEHO syndrome

PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.


congenital portosystemic shunt

Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours.


telangiectasia, hereditary hemorrhagic, type 1


Neuhauser anomaly

Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections).


cerebral cavernous malformation 2

Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.


familial patent arterial duct

Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities.


congenital stenosis of the inferior vena cava


congenital anomaly of the coronary sinus


anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.


subaortic course of innominate vein

Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated.


hereditary hemorrhagic telangiectasia type 3


congenital systemic arteriovenous fistula


aortic arch defects

Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of tihs system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren.


discrete fixed membranous subaortic stenosis


aneurysm or dilatation of ascending aorta


valvar pulmonary stenosis

A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow).


lymphatic malformation 3

Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene.


congenital anomaly of superior vena cava


telangiectasia, hereditary hemorrhagic, type 5

Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.


encircling double aortic arch

Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations.


multiple cutaneous and mucosal venous malformations

Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa.


patent ductus arteriosus 3

Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene.


congenital alveolar dysplasia due to FGF10

Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene.


congenital anomaly of the great arteries


MPI-congenital disorder of glycosylation

MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).


lymphatic malformation 1

Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene.


hennekam lymphangiectasia-lymphedema syndrome 3


discrete fibromuscular subaortic stenosis


deafness-lymphedema-leukemia syndrome

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.


pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome


lymphatic malformation 5

A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty.


idiopathic pulmonary artery dilatation

Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases.


discrete subaortic stenosis

A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta.


pulmonary artery or pulmonary branch anomaly


familial bicuspid aortic valve

A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).


EPHB4-associated vascular malformation spectrum

Any vascular malformation in which the cause of the disease is a variation in the EPHB4 gene.


congenital pulmonary valve stenosis

Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS).


capillary malformation-arteriovenous malformation 2


blue rubber bleb nevus

Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.


pulmonary atresia-intact ventricular septum syndrome

Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation.


Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.


Hennekam syndrome

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.


atypical coarctation of aorta

Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).


macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome


congenital alveolar dysplasia

A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis.


lymphatic malformation

Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation.


right superior vena cava connecting to left-sided atrium

Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported.


pulmonary branch stenosis

Narrowing of the lumen of the right or left pulmonary artery branch.


segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.


microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.


hereditary hemorrhagic telangiectasia

A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.


campomelia, Cumming type

Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.


Hennekam lymphangiectasia-lymphedema syndrome 1

Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.


premature closure of the arterial duct

Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids.


fixed subaortic stenosis

Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form.


genetic vascular anomaly

An instance of vascular anomaly that is caused by a modification of the individual's genome.


absence of the pulmonary artery

Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age.


aortic valve disease 2

Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.


persistent left superior vena cava connecting to the left-sided atrium

Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated.


congenital pulmonary veins atresia or stenosis

Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects.


congenital alveolar dysplasia due to TBX4

Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene.


aortic arch interruption

Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths.


alveolar capillary dysplasia without misalignment of pulmonary veins

A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins.


congenital pulmonary venous return anomaly

Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous.


cerebral cavernous malformation 3

Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene.


left superior vena cava persisting to left-sided atrium


Hennekam lymphangiectasia-lymphedema syndrome 2

Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene.


pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome

Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion.


agenesis of the superior vena cava

Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome.


famililal cerebral cavernous malformations

A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.


congenital anomaly of the inferior vena cava


lymphatic malformation 4

Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene.


azygos continuation of the inferior vena cava


congenital vascular malformation

A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels.


absence of innominate vein

Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases.


hereditary hemorrhagic telangiectasia type 4


telangiectasia, hereditary hemorrhagic, type 2

Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.


internal carotid agenesis

Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography.


Norman-Roberts syndrome

Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.


right inferior vena cava connecting to left-sided atrium


congenital patent ductus arteriosus aneurysm

Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported.


capillary malformation-arteriovenous malformation 1


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.