Grade 4 Urinary Fistula, CTCAE

description: Life-threatening consequences; urgent invasive intervention indicated


Spotty hyperpigmentation

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


Grade 3 Paresthesia, CTCAE

description: Severe symptoms; limiting self care ADL


dense deposit disease

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen.


name: Membranoproliferative Glomerulonephritis Type 3 (AQ)

description: Glomerulonephritis similar in appearance under light microscopy to membranoproliferative glomerulonephritis (MPGN) I, but with subepithelial or transmembranous and subendothelial deposits on electron microscopy.


description: Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation.


name: Locally Advanced Lung Small Cell Carcinoma

description: Lung small cell carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


name: large B-cell diffuse lymphoma of lacrimal gland

description: A diffuse large B-cell lymphoma that arises from the lacrimal gland.


name: intellectual disability, autosomal dominant 39

description: Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene.


16alpha-hydroxy steroid

A 16-hydroxy steroid in which the hydroxy group at position 16 has alpha-configuration.


name: catechol O-methyltransferase isoform Soluble (rat)

description: A catechol O-methyltransferase (rat) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P22734-2.


(+)-sulpiride

An optically active form of sulpiride having (R)-configuration. The active enantiomer of the racemic drug sulpiride.


dextrocardia

description: A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects.


pyridoxal 5'-phosphate(2-)

The dianion resulting from the removal of two protons from the phosphate group of pyridoxal 5'-phosphate.


salicylates

Any salt or ester arising from reaction of the carboxy group of salicylic acid, or any ester resulting from the condensation of the phenolic hydroxy group of salicylic acid with an organic acid.


pyridoxamine 5'-phosphate(1-)

An organophosphate oxoanion that is the conjugate base of pyridoxamine 5'-phosphate.


carbamate

Any ester of carbamic acid or its N-substituted derivatives.


thiamine(1+) triphosphate(4-)

Trianion of thiamine(1+) diphosphate arising from deprotonation of the four OH groups of the triphosphate.


pyridoxine 5'-phosphate(2-)

Dianion of pyridoxine 5'-phosphate.


thiamine(1+) diphosphate(3-)

Dianion of thiamine(1+) diphosphate arising from deprotonation of the three OH groups of the diphosphate.


A pyridoxate that is the conjugate base of 4-pyridoxic acid, obtained by deprotonation of the carboxy group.


thiamine(1+) monophosphate(2-)

An organophosphate oxoanion that is the conjugate base of thiamine(1+) monophosphate(1-), arising from the deprotonation of the phosphate group. Major microspecies at pH 7.3.


Increased HbA2 hemoglobin

description: An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.


Myelokathexis

description: Impaired egress of mature neutrophils from bone marrow causing neutropenia.


Absent platelet dense granules

description: Lack of platelet dense granules, a type of platelet organelles.


name: Increased proportion of CD25+ mast cells

description: An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).


Abnormal macrophage count

description: An anomaly in the number of macrophages.


name: Abnormal erythrocyte UDP glucose-4-epimerase concentration

description: An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


Amegakaryocytic thrombocytopenia

description: Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.


name: fetal and neonatal alloimmune thrombocytopenia

description: Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids.


Decreased hemoglobin concentration

description: An abnormal reduction below normal hemoglobin concentration in the circulation.


Increased Burr cell count

description: Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals.


Hyperchromic macrocytic anemia

description: A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin.


Low neutrophil alkaline phosphatase

description: An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.


Congenital thrombocytopenia

description: Thrombocytopenia with congenital onset.


Infection associated neutropenia

description: Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.


name: myelodysplastic syndrome with ring sideroblasts

description: Acquired idiopathic sideroblastic anemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterized by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukemia. Acquired idiopathic sideroblastic anemia is now more commonly referred to as refractory anemia with ringed sideroblasts or the acronym RARS.


Increased circulating myelocyte count

description: The number of myelocytes in the peripheral blood circulation is above the upper limit of normal. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and secondary granules, and a nucleus:cytoplasm ratio of 2:1.


Anemia of inadequate production

description: A kind of anemia characterized by inadequate production of erythrocytes.


Reduction of neutrophil motility

description: An abnormal reduction of the cell motility of neutrophils.


Giant neutrophil granules

description: The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation.


Transient neutropenia

description: A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.


name: Decreased erythrocyte UDP glucose-4-epimerase concentration

description: A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


Cold-induced hemolysis

description: A form of hemolytic anemia that can be triggered by cold temperatures.


hemoglobin H disease

description: Alpha thalassemia caused by variation in three of the four copies of the alpha hemoglobin genes (e.g., large deletion in HBA1 and HBA2 genes in trans with a variant in either HBA1 or HBA2).


Abnormal granulocyte morphology

description: Any structural abnormality or abnormal count of granulocytes.


Hemophagocytosis

description: Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.


Abnormal proerythroblast morphology

description: Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.


Abnormality of neutrophil physiology

description: A functional abnormality of neutrophils.


Megaloblastic erythroid hyperplasia

description: A laboratory test result indicating an abnormally high quantity of abnormal immature red blood cells with megaloblastic features.


Leukocyte inclusion bodies

description: The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.


hypochromic microcytic anemia

description: Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic).


Hepatic granulomatosis

description: The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.


Hepatic mastocytosis

description: Liver mast cell infiltration.


Megaloblastic bone marrow

description: Abnormal increased number of megaloblasts in the bone marrow.


Chronic hemolytic anemia

description: An chronic form of hemolytic anemia.


Enlarged platelet dense granules

description: Increased size of platelet dense granules.


Abnormal basophil count

description: Any deviation from the normal number of basophils per volume in the blood circulation.


Abnormal dense granule content

description: A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.


Increased neutrophil ribosomes

description: An increased number of ribosomes detected in neutrophils.


name: Elevated erythrocyte inosine triphosphate concentration

description: Concentration of inosine triphosphate in red blood cells is above the upper limit of normal.


Bone marrow monocytosis

description: Increased count of monocytes in the bone marrow.


Abnormal dense tubular system

description: An anomaly of the intracellular membrane complexes known as the dense tubular system.


description: A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.


Bone marrow vacuolated lymphocytes

description: The presence of lymphocytes with multilple vacuoles (a membrane-bound cell organelle) in the bone marrow.


Reticulocytosis

description: An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.


Increased circulating band cell count

description: The number of band cells in the peripheral blood circulation is above the upper limit of normal. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small secondary granules, and a nucleus:cytoplasm ratio of 1:2.


Normochromic microcytic anemia

description: A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.


name: Reduced erythrocyte 2,3-diphosphoglycerate concentration

description: This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.


Abnormal number of erythroid precursors

description: A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.


Reduced beta/alpha synthesis ratio

description: A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.


name: Bone marrow arrest at the promyelocytic stage

description: A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow.


name: Abnormal erythrocyte enzyme concentration or activity

description: An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.


Increased megakaryocyte count

description: Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.


Reduced platelet alpha granules

description: A reduced number of platelet alpha granules.


Pyknotic bone marrow neutrophils

description: Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments.


hereditary elliptocytosis

description: Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.


Cerebral granulomatosis

description: Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.


Increased micromegakaryocyte count

description: The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter.


histiocytosis

description: A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes.


Exercise-induced hemolysis

description: A form of hemolytic anemia that can be triggered by exertion.


Reduced erythrocyte hexokinase activity

description: Activity or concentration of hexokinase (EC 2.7.1.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle.


Multinucleated erythroblast

description: Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis.


Granulocytic hypoplasia

description: Decreased number of granulocyte precursors in the bone marrow.


name: Impaired neutrophil killing of staphylococci

description: A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph.


Abnormal dense granules

description: Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin.


name: Abnormal platelet dense granule ATP/ADP ratio

description: Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets.


Abnormal granulocyte count

description: Any deviation from the normal cell count per volume of granulocytes in the blood circulation.


Imbalanced hemoglobin synthesis

description: Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.


Blood group antigen abnormality

description: An abnormality of an erythrocyte cell surface molecule.


Impaired oxidative burst

description: In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.


Bite cells

description: Red blood cells that appear to have parts of them bitten away.


Neutrophil nuclear clefts

description: An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.


Poikilocytosis

description: The presence of abnormally shaped erythrocytes.


Absent neutrophil specific granules

description: Lack of specific granules in neutrophils.


name: Abnormal mean corpuscular hemoglobin concentration

description: A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.


Abnormal macrophage morphology

description: An abnormality of macrophages.


Megakaryocyte dysplasia

description: The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.


Transient erythroblastopenia

description: A transient reduction in the number of erythroblasts in the circulation.


xanthogranuloma

description: A reactive lesion characterized by the presence of a bland histiocytic cellular infiltrate admixed with giant cells.


Abnormal myeloid cell morphology

description: Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.


Bone marrow erythroid vacuolization

description: Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of erythroid precursors in the bone marrow.


Heinz bodies

description: A type of erythrocyte inclusion composed of denatured hemoglobin.


Eosinophil nuclear hypersegmentation

description: An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes.


Microspherocytosis

description: The presence of erythrocytes that are sphere-shaped and reduced in size.


Anisopoikilocytosis

description: A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.


name: Hyposegmentation of neutrophil nuclei in CSF

description: Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.


name: Reduced erythrocyte bisphosphoglycerate mutase activity

description: Activity or concentration of bisphosphoglycerate mutase (BPGM; EC 5.4.2.4;) in red blood cells below the lower limit of normal. BPGM is a multifunctional enzyme specifically found in red blood cells that synthesizes 2,3-diphosphoglycerate through its synthase activity and degrades it through its phosphatase activity.


Episodic eosinophilia

description: Recurrent episodes of marked eosinophilia that resolve spontaneously.


cutaneous mastocytosis

description: Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.


description: A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.


name: Reduced erythrocyte uroporphyrinogen III cosynthase activity

description: Activity or concentration of in the level of uroporphyrinogen III (EC 4.2.1.75) in erythrocytes below the lower limit of normal.


Reduced platelet dense granules

description: Decreased number of platelet dense granules, a type of platelet organelle.


Episodic hemolytic anemia

description: A form of hemolytic anemia that occurs in repeated episodes.


name: Increased red cell hemolysis by shear stress


name: Abnormal erythrocyte adenosine deaminase activity

description: Activity of adenosine deaminase in red blood cells outside the limits of normal.


Decreased basophil count

description: An abnormally reduced count of basophils per volume in the blood circulation.


name: Elevated red cell pyruvate kinase activity

description: Activity or concentration of pyruvate kinase (EC 2.7.1.40) in erythrocytes above the upper limit of normal. Pyruvate kinase (EC 2.7.1.40) is a glycolytic enzyme that catalyzes the transphosphorylation from phosphoenolpyruvate (PEP) to ADP, yielding pyruvate and ATP.


name: Abnormal erythrocyte adenosine triphosphate concentration

description: Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) outside of the normal range.


Bone marrow granuloma

description: A granuloma (a focal aggregate of immune cells that forms in response to a persistent inflammatory stimulus) localiyed to the bone marrow. A granuloma characteristically demonstrates the compact organization of mature macrophages, which may or may not be associated with other inflammatory cell types.


Granulomatosis

description: A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.


Abnormal number of dense granules

description: A deviation from the normal count of dense granules per thrombocyte.


Neutrophilia in absence of infection

description: An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders.


HbS hemoglobin

description: Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.


Abnormal alpha granule content

description: A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.


description: A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.


Splenic hemophagocytosis

description: Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the spleen.


name: Elevated erythrocyte galactose-1-phosphate concentration

description: Concentration of galactose-1-phosphate in red blood cells (erythrocytes) above the upper level of normal.


sea-blue histiocyte syndrome

description: A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.


Abnormal microglia morphology

description: An abnormality of the microglial cells. They are also known as brain-resident macrophages or Hortega cells.


name: Increased megakaryocyte colony forming unit count

description: Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow.


Absent neutrophil lactoferrin

description: The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production.


Persistence of hemoglobin F

description: Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.


Drug-sensitive hemolytic anemia

description: A form of hemolytic anemia that is triggered by ingestion of certain drugs.


Neutrophilia in presence of infection

description: An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus.


Abnormal number of alpha granules

description: A deviation from the normal count of alpha granules per thrombocyte.


Erythroid hypoplasia

description: Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.


name: Anemia due to reduced life span of red cells

description: A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.


Megakaryocyte nucleus hypolobulation

description: The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.


Red blood cell keratocytosis

description: A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns.


Erythroid hyperplasia

description: Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.


Increased red blood cell mass

description: The presence of an increased mass of red blood cells in the circulation.


Abnormal alpha granules

description: Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury.


Bone marrow maturation arrest

description: Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow.


Abnormal megakaryocyte morphology

description: Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.


name: Elevated red cell adenosine deaminase activity

description: Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.


Heinz body anemia

description: Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.


Post-transfusion thrombocytopenia

description: Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.


Abnormal alpha granule distribution

description: An anomalous location and arrangement of platelet alpha granules.


name: Reduced erythrocyte glutathione concentration

description: Concentration of glutathione in red blood cells below the lower limit of normal. Glutathione (GSH) is an important redox active biomolecule critical in the maintenance and regulation of cellular and organismal health.


name: Elevated erythrocyte adenosine triphosphate concentration

description: Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) above the upper limit of normal.


Bone-marrow foam cells

description: The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.


Urinary bladder granulomatosis

description: The presence of multiple granulomas in the urinary bladder as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.


Abnormal mean corpuscular volume

description: A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.


Abnormal mast cell morphology

description: Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.


megaloblastic anemia, folate-responsive

description: A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate.


Erythrocyte inclusion bodies

description: Nuclear or cytoplasmic aggregates of substances in red blood cells.


Spherocytosis

description: The presence of erythrocytes that are sphere-shaped.


Abnormal L-selectin shedding

description: An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection.


Chronic neutropenia

description: Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.


name: Abnormality of bone marrow stromal cells


Abnormal neutrophil morphology

description: An abnormal form or size of neutrophils.


name: Hypersegmentation of neutrophil nuclei in CSF

description: An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid.


Lipid-laden bone-marrow macrophages

description: Bone marrow with increased numbers of macrophages heavily laden with lipids.


Abnormal monocyte count

description: An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.


name: Increased neutrophil nuclear projections

description: Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs.


Acanthocytosis

description: Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.


name: Reduced erythrocyte porphobilinogen deaminase activity

description: Activity or concentration of in the level of porphobilinogen deaminase (EC 4.3.1.8) in erythrocytes below the lower limit of normal.


name: Diminished neutrophil myeloperoxidase activity

description: Activity of the enzyme myeloperoxidase (EC 1.11.1.7) in neutrophils below the lower limit of normal. This feature can be measured by peroxidase cytochemistry or biochemical assays. Myeloperoxidase is a lysosomal hemoprotein located in the azurophilic granules of polymorphonuclear leukocytes and monocytes.


Mucinous histiocytosis

description: Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone.


name: Abnormality of neutrophil morphology in CSF

description: An abnormal form or size of neutrophils in the cerebrospinal fluid.


Impaired neutrophil chemotaxis

description: An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response


Circulating nucleated red blood cells

description: The presence of nucleated red blood cells in the peripheral blood circulation.


name: Non-caseating epithelioid cell granulomatosis

description: The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese).


Abnormal platelet granules

description: An anomaly of alpha or dense granules or platelet lysosomes.


name: Abnormal granulocytopoietic cell morphology

description: An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.


Intermittent thrombocytopenia

description: Reduced platelet count that occurs sporadically, i.e., it comes and goes.


name: Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity

description: Activity or concentration of in the level of galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12) in erythrocytes below the lower limit of normal.


Steroid-responsive anemia

description: Amelioration of anemia upon treatment with a steroid medication.


Stomatocytosis

description: The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.


Rouleaux formation

description: Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells.


name: Abnormality of multiple cell lineages in the bone marrow


Abnormal erythrocyte morphology

description: Any structural abnormality of erythrocytes (red-blood cells).


Gastrointestinal granulomatosis

description: The presence of multiple granulomas in the gastrointestinal tract (Pylorus, esophagus, jejunum, ileum, cecum, rectum, perirectal area, esophagus) as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.


name: Reduced erythrocyte adenosine triphosphate concentration

description: Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) below the lower limit of normal.


Abnormal basophil morphology

description: Any structural abnormality or abnormal count of basophils.


Giant platelets

description: Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).


Refractory sideroblastic anemia

description: A type of sideroblastic anemia that is not responsive to treatment.


Increased urine neutrophil count

description: Abnormally increased count of neutrophils in urine.


Polychromasia

description: Increased variation in the color of the erythrocytes (red blood cells), including pale red, normal or dark colors, indicating a highly variable hemoglobin concentration. Typically this indicates the release of immature erythrocytes in states of anemia.


name: Abnormal surface-connected open canalicular system

description: An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction.


Abnormal myeloid leukocyte morphology

description: An abnormality of myeloid leukocytes.


Erythroid dysplasia

description: Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.


Reduced erythrocyte arginase activity

description: Activity or concentration of arginase (EC 3.5.3.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle.


Abnormality of neutrophils

description: A neutrophil abnormality.


Abnormal platelet shape

description: A deviation from the normal discoid platelet shape.


Abnormal hemoglobin concentration

description: Any deviation from the normal concentration of hemoglobin in the blood.


Abnormal eosinophil morphology

description: An abnormal count or structure of eosinophils.


Hepatic hemophagocytosis

description: Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the liver.


Reduced bone-marrow pro-B cell count

description: A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19.


Fava bean-induced hemolytic anemia

description: A kind of hemolytic anemia that is induced by the ingestion of fava beans.


Megakaryocyte nucleus hyperlobulation

description: The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus.


Howell-Jolly bodies

description: Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets.


Hypersegmentation of neutrophil nuclei

description: An excessive division of the lobes of the nucleus of a neutrophil.


Abnormal platelet morphology

description: An anomaly in platelet form, ultrastructure, or intracellular organelles.


name: Abnormal number of granulocyte precursors


Neutrophil inclusion bodies

description: The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies.


name: Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity

description: Activity or concentration of fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) in red blood cells below the lower limit of normal.


Sickled erythrocytes

description: An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).


Pelger-Huet anomaly

description: An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.


name: Reduced erythrocyte gamma-glutamyl cysteine synthetase activity

description: Activity of gamma-glutamylcysteine synthetase (EC 6.3.2.2) in erythrocytes below the lower limit of normal.


Normocytic hypoplastic anemia

description: A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).


Monocytopenia

description: An decreased number of circulating monocytes.


name: Cyclic neutropenia in myeloid maturation arrest in bone marrow

description: Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.


Reticulocytopenia

description: A reduced number of reticulocytes in the peripheral blood.


Bone marrow myeloid vacuolization

description: Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of myeloid precursors in the bone marrow.


Bone marrow xanthomatosis

description: Lipid deposits localized within the bone marrow. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


name: Increased circulating immature neutrophil count

description: An abnormally increased number of immature neutrophils in the peripheral blood circulation.


Bone marrow hypercellularity

description: A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.


Oval macrocytosis

description: Enlarged, oval-shaped erythrocytes (red blood cells).


name: Increased erythrocyte UDP glucose-4-epimerase concentration

description: An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


Platelet anisocytosis

description: Abnormally increased variability in the size of platelets.


Abnormal monocyte morphology

description: Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.


name: Absence of Lutheran antigen on erythrocytes

description: Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.


pyropoikilocytosis, hereditary

description: An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.


name: Impaired neutrophil bactericidal activity

description: A reduction in the ability of neutrophils to kill bacteria.


Target cells

description: Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target.


Reduced alpha/beta synthesis ratio

description: A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.


Myeloid maturation arrest

description: Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.


Anemic pallor

description: A type of pallor that is secondary to the presence of anemia.


Hypereosinophilia

description: A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter.


Increased neutrophil mitochondria

description: An increased number of mitochondria detected in neutrophils.


familial hemolytic anemia

description: A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.


name: Abnormal erythrocyte metabolite concentration

description: A deviation from the normal range of a metabolite in red blood cells.


Bone marrow eosinophilia

description: Count of eosinophils in the bone marrow above the upper limit of normal.


name: Reduced erythrocyte inosine triphosphatase activity

description: Activity or concentration of inosine triphosphate pyrophosphohydrolase (EC 3.6.1.19) in red blood cells below the lower limit of normal.


Schistocytosis

description: The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.


name: Increased mean corpuscular hemoglobin concentration

description: An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).


Hemoglobin Barts

description: Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.


HbC hemoglobin

description: Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis.


name: Increased circulating metamyelocyte count

description: The number of metamyelocytes in the peripheral blood circulation is above the upper limit of normal. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with secondary granules, and a nucleus:cytoplasm ratio of 1.5:1.


Lymph-node hemophagocytosis

description: Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages in a lymph node.


name: Abnormal morphology of erythroid progenitor cell

description: Abnormal form of the progenitor cells committed to the erythroid lineage.


Reduced red cell pyruvate kinase level

description: Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.


Reduced bone-marrow megakaryocyte size

description: Decreased in average size (diameter) of megakaryocytes in the bone marrow. Megakaryocyte diameter can be assessed as using automated cellular imaging systems.


Agranulocytosis

description: Marked decrease in the number of granulocytes.


description: A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.


Abnormal platelet volume

description: Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.


name: Reduced red cell adenosine deaminase level

description: Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.


Sterile pyuria

description: Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.


name: Abnormal erythroid lineage cell morphology

description: An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.


Megakaryocytopenia

description: A reduced count of megakaryocytes.


name: Reduced erythrocyte adenylate kinase activity

description: Activity or concentration of in the level of adenylate kinase (EC 2.7.4.3) in erythrocytes below the lower limit of normal. Adenylate kinase is a ubiquitous monomeric enzyme that catalyzes the reversible conversion of MgATP plus AMP to MgADP plus ADP and contributes to homeostasis of the adenine nucleotide composition in the cell.


Abnormal reticulocyte morphology

description: A reticulocyte abnormality.


Absence of alpha granules

description: A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears.


CSF hemophagocytosis

description: Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the cerebrospinal fluid (CSF).


Increased bone marrow iron

description: An increased amount of iron in the bone marrow.


Dacryocytosis

description: Presence of teardrop-shaped red blood cells.


Reduced hemoglobin A

description: Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia.


name: Increased multinucleated megakaryocyte count

description: The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow.


Pappenheimer bodies

description: A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain).


name: Reduced erythrocyte glutathione reductase activity

description: Activity of glutathione reductase (EC 1.6.4.2) in erythrocytes below the lower limit of normal.


name: 5'-AMP-activated protein kinase catalytic subunit alpha-2 unphosphorylated 1 (human)

description: A 5'-AMP-activated protein kinase catalytic subunit alpha-2 unphosphorylated 1 in human. UniProtKB:P54646, Thr-172, PR:000026291.


name: [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial isoform h2 (human)

description: A [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q15118-2.


conjunctival vascular disorder

description: A disorder of the vasculature of the cornea.


Fatty casts

description: A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.


name: infiltrating bladder urothelial carcinoma sarcomatoid variant

description: An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features.


name: infiltrating bladder urothelial carcinoma

description: An invasive transitional cell carcinoma that arises from the urinary bladder urothelium.


name: lymphoma-like variant infiltrating bladder urothelial carcinoma


name: plasmacytoid variant infiltrating bladder urothelial carcinoma

description: Invasive bladder urothelial carcinoma characterized by the presence of malignant cells with plasmacytoid features.


name: microcystic variant infiltrating bladder urothelial carcinoma

description: Invasive bladder urothelial carcinoma characterized by microcysts formation.


name: infiltrating bladder urothelial carcinoma, clear cell variant

description: An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells.


name: nested variant infiltrating bladder urothelial carcinoma

description: Invasive bladder urothelial carcinoma characterized by a nested growth pattern.


name: micropapillary variant infiltrating bladder urothelial carcinoma

description: An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003


name: infiltrating bladder lymphoepithelioma-like carcinoma

description: Invasive bladder urothelial carcinoma with lymphoepithelioma-like features.


name: lipid-cell variant infiltrating bladder urothelial carcinoma

description: Invasive bladder urothelial carcinoma characterized by the presence of lipid laden tumor cells.


name: Cardiovascular System Signs and Symptoms


Innocent Pulmonary Systolic Murmur

description: An innocent murmur with a medium pitched, harsh character heard at the left middle and left upper sternal border that disappears with upright position. (ACC/AHA)


Innocent Murmur

description: A clinical finding in which turbulent flow is noted by auscultation that is not associated with any structural cardiac defects. (ACC/AHA)


name: Physiologic Pulmonary Artery Stenosis Murmur

description: An innocent murmur with a medium or high pitched, blowing character heard at the left middle sternal border that can also be heard at the same volume across the precordium and back that does not disappear with maneuvers but is only heard in infants less than six months of age. (ACC/AHA)


Stable angina

description: Angina pectoris which has not recently changed in frequency, duration or intensity. Stable angina pectoris is relieved by rest or administration or oral, sublingual or transdermal antianginal medications.


Pathologic Murmur

description: A clinical finding in which turbulent flow is noted by auscultation that is associated with a structural cardiac defect. (ACC/AHA)


Still's Murmur

description: An innocent murmur with a medium pitched, vibratory character heard at the apex, left lower sternal border, left middle sternal border, and right upper sternal border that disappears or becomes quieter and localizes to the left lower sternal border on upright position. (ACC/AHA)


Cardiovascular Manifestation

description: Patient complaints (symptoms), physical/laboratory findings(signs) related to the cardiovascular system.


Atypical angina

description: Angina pectoris which does not have associated classical symptoms of chest pain. Symptoms may include weakness, nausea, or sweating.


Venous Hum

description: An innocent murmur with a medium pitched, blowing character with diastolic accentuation heard at the right or left upper sternal border that disappears with jugular venous compression or supine position. (ACC/AHA)


Mammary Souffle

description: An innocent murmur with a medium or high pitched, blowing character with continuous flow with systolic accentuation heard over or above the breasts that disappears with compression of the breast tissue. (ACC/AHA)


name: Abnormal axonemal organization of respiratory motile cilia

description: Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms.


Invasive Tubular Urothelial Carcinoma

description: Invasive urothelial carcinoma characterized by the presence of a tubular growth pattern.


name: Invasive Bladder Tubular Urothelial Carcinoma

description: Invasive bladder urothelial carcinoma characterized the presence of a tubular growth pattern.


Libman-Sacks endocarditis

description: An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease.


marantic endocarditis

description: Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia).


subacute bacterial endocarditis

description: Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between "acute" and "subacute" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation.


polyp of sphenoidal sinus

description: A polyp that involves the sphenoidal sinus.


Limited neck extension

description: Reduced abilty to move the head back towards the ceiling so that one is looking upwards.


Stiff neck

description: A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.


Nuchal rigidity

description: Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated.


Limited neck flexion

description: Reduced abilty to lower the chin towards the chest by bending the neck.


Limited head rotation

description: Reduced range of motion turning the head side to side.


Limited lateral neck flexion

description: Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder.


name: cytokine receptor common subunit gamma, signal peptide removed form (human)

description: A cytokine receptor common subunit gamma (human) that has had the signal peptide removed. UniProtKB:P31785, 23-369.


vitamin D-dependent rickets, type 1

description: Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.


name: Grade 3 Hearing Patients without Baseline Audiogram and Not Enrolled in a Monitoring Program, CTCAE


name: autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

description: Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).


Periodic hypokalemic paresis

description: Episodes of muscle weakness associated with reduced levels of potassium in the blood.


periodic paralysis

description: Episodes of muscle weakness.


Grade 2 Biliary Tract Infection, CTCAE

description: Oral intervention indicated (e.g., antibiotic, antifungal, or antiviral)


hypotrichosis 3

description: Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene.


acute hemorrhagic conjunctivitis

description: Acute conjunctivitis that is characterized by bleeding into the conjunctiva.


viral conjunctivitis

description: Conjunctivitis resulting from viral infection.


epidemic keratoconjunctivitis

description: Keratoconjunctivitis resulting from infection by adenoviruses.


name: Grade 5 Prostate Infection with Unknown Absolute Neutrophil Count, CTCAE


protein tyrosine phosphatase type IVA 3

A protein that is a translation product of the human PTP4A3 gene or a 1:1 ortholog thereof.


name: protein tyrosine phosphatase type IVA 3 cysteinylated 1 (human)

description: A protein tyrosine phosphatase type IVA 3 (human) that has been cysteinylated on the residue at the position equivalent to Cys-49 of the amino acid sequence represented by UniProtKB:O75365-1. Example: UniProtKB:O75365-1, Cys-49, MOD:00765.


name: protein tyrosine phosphatase type IVA 3 isoform 1 (human)

description: A protein tyrosine phosphatase type IVA 3 isoform 1 that is encoded in the genome of human.


name: protein tyrosine phosphatase type IVA 3 isoform h2 (human)

description: A protein tyrosine phosphatase type IVA 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75365-2.


name: protein tyrosine phosphatase type IVA 3 isoform h3 (human)

description: A protein tyrosine phosphatase type IVA 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75365-3.


name: congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements

description: Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes.


spindle cell sarcoma

description: A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas.


spindle cell synovial sarcoma

description: A synovial sarcoma characterized by the presence of a spindle cell component only.


intimal sarcoma

description: A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor.


childhood spindle cell rhabdomyosarcoma

description: A spindle cell rhabdomyosarcoma occurring in children.


spindle cell rhabdomyosarcoma

description: An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck.


name: intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements

description: Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene.


spindle cell liposarcoma

description: A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma.


Abnormal alveolar ridge morphology

description: Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.


Alveolar process hypoplasia

description: Underdevelopment of the alveolar process (also known as alveolar bone).


Bilateral alveolar cleft of maxilla

description: Nonmidline alveolar cleft of the maxilla.


Complete cleft maxillary alveolar ridge

description: Cleft maxillary alveolar ridge in which the cleft goes through the entire length of the maxillary alveolar ridge.


name: Incomplete cleft maxillary alveolar ridge

description: Cleft maxillary alveolar ridge in which the cleft does not go through the entire length of the maxillary alveolar ridge.


Fibrous syngnathia

description: Complete or nearly complete soft tissue fusion of the alveolar ridges.


Cleft maxillary alveolar ridge

description: A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.


Alveolar ridge overgrowth

description: Increased width of the alveolar ridges.


Unilateral alveolar cleft of maxilla

description: One sided alveolar cleft of the maxilla.


cervical fibroepithelial polyp

description: A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium.


lathosterolosis

description: Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.


sterol biosynthesis disorder

description: An inherited metabolic disease that is has its basis in the disruption of sterol biosynthetic process.


desmosterolosis

description: Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.


Greenberg dysplasia

description: A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.


X-linked chondrodysplasia punctata 2

description: A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.


X-linked chondrodysplasia punctata

description: X-linked form of chondrodysplasia punctata.


CHILD syndrome

description: CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.


name: microcephaly-congenital cataract-psoriasiform dermatitis syndrome


X-linked chondrodysplasia punctata 1

description: Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.


Smith-Lemli-Opitz syndrome

description: Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.


name: cholesterol biosynthetic process disease

description: A disease that has its basis in the disruption of cholesterol biosynthetic process.


name: hyperimmunoglobulinemia D with periodic fever

description: Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).


name: Recurrent Oligodendroglioma, IDH-Mutant and 1p/19q-Codeleted

description: The reemergence of oligodendroglioma, IDH-mutant and 1p/19q-codeleted after a period of remission.


name: xeroderma pigmentosum, autosomal dominant, mild


name: neuronopathy, distal hereditary motor, type 5A


Anti-ADAMTS13 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats, member 13 (ADAMTS13).


name: T-lymphocyte activation antigen CD86 isoform h6 (human)

description: A T-lymphocyte activation antigen CD86 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P42081-6.


Pfeiffer syndrome type 3

description: Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.


Pfeiffer syndrome

description: Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.


Pfeiffer syndrome type 2

description: Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.


Pfeiffer syndrome type 1

description: Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.


name: Grade 4 Colon or Cecum or Appendix Fistula, CTCAE


3p- syndrome

description: Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.


name: partial deletion of the short arm of chromosome 3


3p25.3 microdeletion syndrome

description: A rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.


Increased lymphocyte apoptosis

description: A elevation in the rate of apoptosis in lymphocytes.


name: Reduced CD95-induced lymphocyte apoptosis

description: Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells.


Abnormal lymphocyte apoptosis

description: A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes.


Decreased lymphocyte apoptosis

description: A reduction in the rate of apoptosis in lymphocytes.


name: Small intestinal lymphoplasmacytic infiltrate

description: Infiltration of the wall of the small intestine by lymphocytes and mature plasma cells.


Grade 2 Hypomagnesemia, CTCAE

description: <1.2-0.9 mg/dL; <0.5-0.4 mmol/L


name: severe X-linked mitochondrial encephalomyopathy

description: Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.


Heberden's node

description: Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis.


Multiple exostoses

description: Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.


name: bilateral acute depigmentation of the iris

description: Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure.


name: HLA class I histocompatibility antigen, A alpha chain deaminated 1 (human)

description: An HLA class I histocompatibility antigen, A alpha chain (human) that has been deaminated on the residue at the position equivalent to Gln-21 of the amino acid sequence represented by UniProtKB:P04439-1. Example: UniProtKB:P04439-1, Gln-21, MOD:00685.


nephrotic syndrome, type 12

description: Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene.


Childhood Small Intestinal Carcinoma

description: A small intestinal carcinoma occurring in childhood.


name: Childhood Malignant Small Intestinal Neoplasm

description: A rare malignant small intestinal neoplasm that occurs during childhood.


name: Childhood Small Intestinal Leiomyosarcoma

description: A small intestinal leiomyosarcoma occurring in childhood.


Absence of subcutaneous fat

description: Lack of subcutaneous adipose tissue.


name: Loss of truncal subcutaneous adipose tissue

description: Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.


name: combined oxidative phosphorylation defect type 9

description: Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.


name: trifunctional purine biosynthetic protein adenosine-3 isoform Short (human)

description: A trifunctional purine biosynthetic protein adenosine-3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P22102-2.


name: Hyperinsulinism in the Infant of a Diabetic Mother

description: Transient hypoglycemia that occurs in the infant of a diabetic mother due to increased postnatal insulin release as a result of in utero exposure to maternal hyperglycemia.


description: Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.


(S)-orciprenaline

A 5-[1-hydroxy-2-(isopropanylamino)ethyl]benzene-1,3-diol that is the (S)-enantiomer of orciprenaline.


(R)-orciprenaline

A 5-[1-hydroxy-2-(isopropanylamino)ethyl]benzene-1,3-diol that is the (R)-enantiomer of orciprenaline.


Complete Hearing Loss

description: Total inability to hear sounds in one or both ears.


acinar prostate mucinous adenocarcinoma

description: A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin.


name: Grade 5 Ureter Stricture or Stenosis, CTCAE


name: cation-independent mannose-6-phosphate receptor deaminated 4 (human)

description: A cation-independent mannose-6-phosphate receptor (human) that has been deaminated on the residue at the position equivalent to Gln-777 of the amino acid sequence represented by UniProtKB:P11717. UniProtKB:P11717, Gln-777, MOD:00685.


malignant struma ovarii

description: An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion).


teratoma with malignant transformation

description: A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous.


CAMOS syndrome

description: CAMOS syndrome is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.


name: Increased proportion of exhausted T cells

description: An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.


name: NADH dehydrogenase [ubiquinone] 1 subunit C2 methylated 1 (human)

description: An NADH dehydrogenase [ubiquinone] 1 subunit C2 (human) that has been methylated on the residue at the position equivalent to Phe-115 of the amino acid sequence represented by UniProtKB:O95298-1. Example: UniProtKB:O95298-1, Phe-115, MOD:00717.


name: NADH dehydrogenase [ubiquinone] 1 subunit C2

description: A protein that is a translation product of the human NDUFC2 gene or a 1:1 ortholog thereof.


name: NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 3 (human)

description: An NADH dehydrogenase [ubiquinone] 1 subunit C2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O95298-1.


name: NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 5 (human)

description: An NADH dehydrogenase [ubiquinone] 1 subunit C2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O95298-3.


name: NADH dehydrogenase [ubiquinone] 1 subunit C2 isoform 4 (human)

description: An NADH dehydrogenase [ubiquinone] 1 subunit C2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O95298-2.


sebaceous basal cell carcinoma

description: A basal cell carcinoma of the skin that is characterized by sebaceous differentiation.


name: DNA-directed RNA polymerase subunit beta

description: A protein that is a translation product of the Escherichia coli K-12 rpoB gene or a 1:1 ortholog thereof.


name: DNA-directed RNA polymerase subunit beta isoform 1 (Escherichia coli K-12)

description: A DNA-directed RNA polymerase subunit beta isoform 1 that is encoded in the genome of Escherichia coli K-12.


name: DNA-directed RNA polymerase subunit beta isoform 1 acetylated 1 (Escherichia coli K-12)

description: A DNA-directed RNA polymerase subunit beta isoform 1 acetylated 1 in Escherichia coli K-12. UniProtKB:P0A8V2-1, Lys-1022/Lys-1200, MOD:00064.


name: G protein-coupled receptor kinase 6 isoform GRK6A (human)

description: A G protein-coupled receptor kinase 6 isoform 1 that is encoded in the genome of human.


Mitral valve leaflet calcification

description: Deposition of calcium salts in the leaflets (cusps) of the mitral valve.


Cleft anterior mitral valve leaflet

description: Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect.


Supramitral ring

description: A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve.


Mitral annular calcification

description: Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.


Mitral chordae tendinae rupture

description: Breakage of the chordae tendinae of the mitral valve. This can lead to loss of tension of one of the mitral valve leaflets and mitral regurgitation.


name: Short chordae tendineae of the mitral valve

description: Abnormally short chordae tendineae of the mitral valve.


mitral atresia disorder

description: A congenital heart defect characterized by the complete atresia of the mitral valve.


name: Abnormal mitral valve annulus morphology

description: Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.


Myxomatous mitral valve degeneration

description: Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view.


Mitral valve arcade

description: Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle.


congenital mitral stenosis

description: Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnea, cough, cyanosis and congestive heart failure.


name: Abnormal mitral valve leaflet morphology

description: Any structural anomaly of the leaflets (also known as cusps) of the mitral valve.


name: Abnormal morphology of the chordae tendinae of the mitral valve

description: A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve.


Parachute mitral valve

description: Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles.


Dilatation of the mitral annulus

description: An increase in the diameter of the ring (annulus) of the mitral valve.


Abnormal mitral valve morphology

description: Any structural anomaly of the mitral valve.


double-orifice mitral valve

description: The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue.


Thickened mitral valve cusp

description: An abnormally increased thickness of a leaflet of the mitral valve.


name: Elongated chordae tendinae of the mitral valve

description: Abnormal increased in length of the chordae tendinae of the mitral valve.


testicular seminoma

description: A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.


tubular variant testicular seminoma

description: A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes.


name: pseudoglandular variant testicular seminoma

description: A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes.


spermatocytic seminoma

description: A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males.


cribriform variant testicular seminoma

description: A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes.


name: Patchy sclerosis of the middle phalanx of the 4th finger

description: Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger.


name: Sclerosis of the middle phalanx of the 4th finger


name: serotransferrin N-glycosylated 35 (human)

description: A serotransferrin (human) that has been N-glycosylated at the residue equivalent to Asn-630 of the amino acid sequence represented by UniProtKB:P02787-1, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P02787-1, Asn-630, MOD:00160~GNO:G36191CD.


name: aryl hydrocarbon receptor deaminated 1 (human)

description: An aryl hydrocarbon receptor (human) that has been deaminated on the residue at the position equivalent to Asn-105 of the amino acid sequence represented by UniProtKB:P35869. UniProtKB:P35869, Asn-105, MOD:00684.


immunoglobulin heavy constant gamma 1

A protein that is a translation product of the human IGHG1 gene or a 1:1 ortholog thereof.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 32 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G60923RB. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G60923RB.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 40 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G72791KH. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G72791KH.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 30 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G59626AS.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 47 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G85582CB. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G85582CB.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 51 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G90734RJ. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G90734RJ.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 5 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G08293MJ.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 21 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G44953PJ. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G44953PJ.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 52 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G95865ZB. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G95865ZB.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 33 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G61855PQ. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G61855PQ.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 25 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G52162PS. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G52162PS.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 17 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G35029YA. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G35029YA.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 34 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G65184UU. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G65184UU.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 14 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G25987BV. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G25987BV.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 10 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G12580WI. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G12580WI.


name: immunoglobulin heavy constant gamma 1 deaminated 2 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been deaminated on the residue at the position equivalent to Asn-86 of the amino acid sequence represented by UniProtKB:P01857-2. Example: UniProtKB:P01857-2, Asn-86, MOD:00684.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 18 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan structure is represented by GlyTouCan:G36191CD. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G36191CD.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 7 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G10339FR. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G10339FR.


name: immunoglobulin heavy constant gamma 1 deaminated 7 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been deaminated on the residue at the position equivalent to Gln-245 of the amino acid sequence represented by UniProtKB:P01857-2. Example: UniProtKB:P01857-2, Gln-245, MOD:00685.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 6 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G09197ZW. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G09197ZW.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 8 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G10486CT.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 16 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan structure is represented by GlyTouCan:G30159WR. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G30159WR.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 44 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G83555HU. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G83555HU.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 35 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G72790NZ. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G72790NZ.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 13 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan structure is represented by GlyTouCan:G25520XG. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G25520XG.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 23 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G49955PK. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G49955PK.


name: immunoglobulin heavy constant gamma 1 deaminated 1 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been deaminated on the residue at the position equivalent to Gln-79 of the amino acid sequence represented by UniProtKB:P01857-2. Example: UniProtKB:P01857-2, Gln-79, MOD:00685.


name: immunoglobulin heavy constant gamma 1 deaminated 3 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been deaminated on the residue at the position equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2. Example: UniProtKB:P01857-2, Asn-180, MOD:00684.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 50 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G88725PI. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G88725PI.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 36 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G67324HN. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G67324HN.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 37 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G68318VE. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G68318VE.


name: immunoglobulin heavy constant gamma 1 N-glycosylated 3 (human)

description: An immunoglobulin heavy constant gamma 1 (human) that has been N-glycosylated at the residue equivalent to Asn-180 of the amino acid sequence represented by UniProtKB:P01857-2, in which the glycan composition is represented by GlyTouCan:G02886BB. Example: UniProtKB:P01857-2, Asn-180, MOD:00160~GNO:G02886BB.