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


Splenic hemophagocytosis

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

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

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

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.


Hypochromia

description: A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.


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.


name: Neutropenia in presence of anti-neutropil antibodies

description: A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.


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.


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.


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.


name: Decreased mean corpuscular hemoglobin concentration

description: A reduction 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.


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


cyclic hematopoiesis

description: A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.


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.


Elevated hemoglobin A1c

description: An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.


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


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.


Decreased eosinophil count

description: Abnormal reduction in the count of eosinophils in the blood per volume.


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.


severe congenital neutropenia

description: A congenital disorder characterized by chronic neutropenia with absolute neutrophil count less than 500/uL and arrest of neutrophil maturation at the promyelocyte/myelocyte level. It is inherited in autosomal recessive or autosomal dominant patterns. Sporadic cases have also been reported. It is usually diagnosed in the first year of life. Patients present with frequent and life-threatening infections.


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).


Abnormal red blood cell count

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


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.


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.


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.


Increased basophil count

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


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.


Increased mean platelet volume

description: Average platelet volume above the upper limit of the normal reference interval.


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.


conjunctival vascular disorder

description: A disorder of the vasculature of the cornea.


name: RNA polymerase II CTD heptapeptide repeat S2 kinase activity

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

description: Catalysis of the reaction: ATP + RNA polymerase II large subunit CTD heptapeptide repeat (consensus YSPTSPS) = ADP + H+ + RNA polymerase II large subunit phosphoserine (position 2).


name: RNA polymerase II CTD heptapeptide repeat S5 kinase activity

description: Catalysis of the reaction: ATP + RNA polymerase II large subunit CTD heptapeptide repeat (consensus YSPTSPS) = ADP + H+ + RNA polymerase II large subunit phosphoserine (position 5).


name: RNA polymerase II CTD heptapeptide repeat S7 kinase activity

description: Catalysis of the reaction: ATP + RNA polymerase II large subunit CTD heptapeptide repeat (consensus YSPTSPS) = ADP + H+ + RNA polymerase II large subunit phosphoserine (position 7).


name: RNA polymerase II CTD heptapeptide repeat Y1 kinase activity

description: Catalysis of the reaction: ATP + RNA polymerase II large subunit CTD heptapeptide repeat (consensus YSPTSPS) = ADP + H+ + RNA polymerase II large subunit phosphotyrosine (position 1).


name: RNA polymerase II CTD heptapeptide repeat T4 kinase activity

description: Catalysis of the reaction: ATP + RNA polymerase II large subunit CTD heptapeptide repeat (consensus YSPTSPS) = ADP + H+ + RNA polymerase II large subunit phosphothreonine (position 4).


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.


secondary palate development

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

description: The biological process whose specific outcome is the progression of the secondary palate from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The secondary palate is the part of the palate formed from the fusion of the two palatine shelves, extensions of the maxillary prominences.


primitive palate development

description: The biological process whose specific outcome is the progression of the primitive palate from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure.


primary palate development

description: The process whose specific outcome is the progression of a primary palate over time, from its formation to the mature structure.


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.


infective endocarditis

description: Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue.


mycotic endocarditis

description: An endocarditis (disease) caused by infection with Fungi.


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).


bacterial endocarditis

description: Endocarditis that is caused by an infection with a bacterial agent.


name: ligase activity, forming nitrogen-metal bonds

description: Catalysis of the joining of a metal ion to a molecule via a nitrogen-metal bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate.


name: ligase activity, forming nitrogen-metal bonds, forming coordination complexes

description: Catalysis of the ligation of two substances via a nitrogen-metal bond, forming a coordination complex.


cobaltochelatase activity

description: Catalysis of the reaction: ATP + Co(2+) + H2O + hydrogenobyrinate a,c-diamide = ADP + cob(II)yrinate a,c diamide + 4 H+ + phosphate.


magnesium chelatase activity

description: Catalysis of the reaction: ATP + H2O + Mg2+ + protoporphyrin IX = ADP + 3 H+ + Mg-protoporphyrin IX + phosphate.


description: The chemical reactions and pathways resulting in the formation of 1,5-anhydro-D-fructose.


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.


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.


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.


Oxycephaly

description: Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.


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.


hyperkalemic periodic paralysis

description: Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.


hypotrichosis 3

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


toll-like receptor 8 signaling pathway

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

description: The series of molecular signals initiated by a ligand binding to the endolysosomal toll-like receptor 8.


name: B cell receptor apoptotic signaling pathway

description: An extrinsic apoptotic signaling pathway initiated by the cross-linking of an antigen receptor on a B cell.


toll-like receptor 12 signaling pathway

description: The series of molecular signals initiated by a ligand binding to the endolysosomal toll-like receptor 12.


name: endosomal pattern recognition receptor signaling pathway

description: The series of molecular signals initiated by the binding of a ligand to an intracellular vesicle pattern recognition receptor (PRR). PRRs bind pathogen-associated molecular pattern (PAMPs), structures conserved among microbial species.


name: peptidoglycan recognition protein signaling pathway

description: The series of molecular signals initiated by binding of peptidoglycan to a receptor and ending with regulation of a downstream cellular process. The main outcome of the Imd signaling is the production of antimicrobial peptides.


toll-like receptor 15 signaling pathway

description: The series of molecular signals initiated by a ligand binding to toll-like receptor 15.


name: TRIF-dependent toll-like receptor 4 signaling pathway

description: The series of molecular signals initiated by a ligand binding to a toll-like 4 receptor where the TRIF adaptor mediates transduction of the signal. Toll-like 4 receptors are pattern recognition receptors that bind bacterial lipopolysaccharide (LPS) to initiate an innate immune response.


name: endolysosomal toll-like receptor signaling pathway

description: The series of molecular signals initiated by a ligand binding to an endolysosomal pattern recognition receptor (PRR) of the toll-like family. PRRs bind pathogen-associated molecular pattern (PAMPs), structures conserved among microbial species.


name: induced systemic resistance, ethylene mediated signaling pathway

description: The series of molecular signals mediated by ethylene (ethene) involved in induced systemic resistance.


name: MyD88-dependent toll-like receptor 4 signaling pathway

description: The series of molecular signals initiated by a ligand binding to a toll-like 4 receptor, where the MyD88 adaptor molecule mediates transduction of the signal. Toll-like 4 receptors bind bacterial lipopolysaccharide (LPS) to initiate an innate immune response.


name: TIRAP-dependent toll-like receptor 4 signaling pathway

description: The series of molecular signals initiated by a ligand binding to a toll-like receptor 4 where the TIRAP/MAL adaptor mediates transduction of the signal. Toll-like 4 receptors are pattern recognition receptors that bind bacterial lipopolysaccharide (LPS) to initiate an innate immune response.


inflammasome-mediated signaling pathway

description: An intracellular signal transduction pathway that starts with a ligand binding to a pattern recognition receptor (PRR), assembly of the inflammasome complex, leading to the activation of CASP1 and inducing an inflammatory response. In some cases, inflammasome-mediated signal transduction can lead to programmed cell death, such as pyroptosis.


name: TIRAP-dependent toll-like receptor signaling pathway

description: The series of molecular signals initiated by a ligand binding to a toll-like receptor where the TIRAP/MAL adaptor mediates transduction of the signal. Toll-like receptors directly bind pattern motifs from a variety of microbial sources to initiate an innate immune response.


name: induced systemic resistance, jasmonic acid mediated signaling pathway

description: The series of molecular signals mediated by jasmonic acid involved in induced systemic resistance.


toll-like receptor 21 signaling pathway

description: The series of molecular signals initiated by a ligand binding to toll-like receptor 21.


toll-like receptor 11 signaling pathway

description: The series of molecular signals initiated by a ligand binding to the endolysosomal toll-like receptor 11.


name: pathogen-associated molecular pattern receptor signaling pathway

description: The series of molecular signals initiated by a ligand binding of a pattern recognition receptor (PRR) to activate a plant innate immune response. PAMP-triggered immunity PRRs bind pathogen-associated molecular pattern (PAMPs), structures conserved among microbial species.


name: MyD88-dependent toll-like receptor 2 signaling pathway

description: The series of molecular signals initiated by a ligand binding to a toll-like 2 receptor where the MyD88 adaptor molecule mediates transduction of the signal. Toll-like 2 receptors are pattern recognition receptors that bind microbial pattern motifs to initiate an innate immune response.


cGAS/STING signaling pathway

description: The series of molecular signals initiated by the binding of a double-stranded DNA or RNA from another organism to cytosolic cyclic GMP-AMP (cGAMP) synthase (cGAS) that activates innate immune responses through production of the second messenger cGAMP, which activates the adaptor STING.


activation of membrane attack complex

description: The activation of the membrane attack complex components of the complement cascade which can result in death of a target cell through cytolysis.


name: complement component C5a signaling pathway

description: A G protein-coupled receptor signaling pathway initiated by a C5a component of the complement pathway binding to a complement receptor, and ending with regulation of a downstream cellular process. C5a is a peptide derived from the C5 complement factor.


toll-like receptor 13 signaling pathway

description: The series of molecular signals initiated by a ligand binding to the endolysosomal toll-like receptor 13.


toll-like receptor 1 signaling pathway

description: The series of molecular signals initiated by a ligand binding to toll-like receptor 1.


name: positive regulation of mast cell activation by Fc-epsilon receptor signaling pathway

description: An Fc-epsilon receptor signaling pathway that results in the change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors.


toll-like receptor 6 signaling pathway

description: The series of molecular signals initiated by a ligand binding to toll-like receptor 6.


name: cell surface toll-like receptor signaling pathway

description: The series of molecular signals initiated by a ligand binding to a cell surface pattern recognition receptor (PRR) of the toll-like family.


name: stimulatory killer cell immunoglobulin-like receptor signaling pathway

description: The series of molecular signals initiated by a ligand binding to a killer cell immunoglobulin-like receptor capable of cellular activation.


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: cardiac blood vessel endothelial cell differentiation

description: The process in which a relatively unspecialized cell acquires specialized features of a blood vessel endothelial cell of the heart. Blood vessel endothelial cells are thin flattened cells that line the inside surfaces of blood vessels.


venous endothelial cell differentiation

description: The process in which a relatively unspecialized endothelial cell acquires specialized features of a venous endothelial cell, a thin flattened cell that lines the inside surfaces of veins.


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.


name: negative regulation of pre-miRNA processing

description: Any process that stops, prevents or reduces the frequency, rate or extent of pre-microRNA processing.


allene oxide synthase activity

description: Catalysis of the reaction: 13(S)-hydroperoxylinolenate = 12,13(S)-epoxylinolenate + H2O.


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.


proper plantar digital vein

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


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.


mevalonic aciduria

description: Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.


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).


apical ectoplasmic specialization

category: biolink:CellularComponent biolink:AnatomicalEntity biolink:PhysicalEssence biolink:OrganismalEntity biolink:SubjectOfInvestigation biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing biolink:PhysicalEssenceOrOccurrent

description: Testis-specific junction between mature spermatids and Sertoli cells at the luminal end of the Sertoli cell.


primary plasmodesma

description: A plasmodesma that consists of a simple, single channel; found predominantly in young tissue and formed as a function of cell plate formation during cytokinesis.


nephrocyte diaphragm

description: A specialized cell-cell junction found between nephrocytes of the insect kidney, which is adapted for filtration of hemolymph. The insect nephrocyte is anatomically and functionally similar to the glomerular podocyte of vertebrates.


host-symbiont bicellular tight junction

description: An occluding cell-cell junction formed between the membranes of the apical end of an invading cell (e.g. a merozoite in Plasmodium) and a host target cell (e.g. erythrocyte for Plasmodium infection). The junction is a stable yet dynamic structure that moves around the symbiont cell during invasion, enclosing it in a vacuole surrounded by a membrane.


peg and socket contact

description: A cell-cell contact zone that consists of membrane invaginations extending from either cell, which contain tight-, gap-, and adherens junctions. Peg and socket contacts form between endothelial cells and pericytes, and between lens fiber cells.


spot adherens junction

description: A small cell-cell adherens junction assembled during the cellularization stage of insect embyrogenesis; spot adherens junctions later fuse to form the zonula adherens.


smooth septate junction

description: A septate junction that lacks the regular arrays of electron-dense septae found in pleated septate junctions.


septate junction

description: A cell-cell junction that forms a continuous band around each cell in an epithelium; within the septate junction the membranes of adjacent cells maintain a constant distance of approximately 15 nm; found in arthropods.


secondary plasmodesma

description: A plasmodesma with a branched structure, often with many channels leading into a larger central cavity; found in older tissues and usually derived from preexisting primary plasmodesmata.


pleated septate junction

description: A septate junction in which regular arrays of electron-dense septae span the intermembrane space.


basal ectoplasmic specialization

description: Testis-specific junction between mature Sertoli cells involved in establishing the blood-testis barrier of the Sertoli cell.


puncta adhaerentia

description: A small version of the zonula adherens type junction, characterized by a symmetrical adherent point between two cells.


plasmodesma

description: A fine cytoplasmic channel, found in all higher plants, that connects the cytoplasm of one cell to that of an adjacent cell.


flagellum attachment zone

description: A network of cytoskeletal and membranous connections responsible for the lateral attachment of the cilium to the cell body in some trypanosomatid species.


caffeate 3,4-dioxygenase activity

description: Catalysis of the reaction: trans-caffeate + O2 = 3-(2-carboxyethenyl)-cis,cis-muconate + 2 H+.


angiogenic sprout fusion

description: The connection of an angiogenic sprout to another vessel or sprout during the formation of vascular networks by sprouting angiogenesis.


description: Catalysis of the reaction: 2-oxo-2H-pyran-4,6-dicarboxylate + H2O = 4-carboxy-2-hydroxyhexa-2,4-dienedioate + H+.


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


Other Anatomic Concept

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


sagittal sinus

description: Either the inferior or superior sagittal sinus.


Papilla

description: A small protruding portion of tissue.


cell layer

description: Portion of tissue, that consists of single layer of cells connected to each other by cell junctions. Examples: layer of glial cells; epithelium.


fast muscle tissue

description: The paler-colored muscle tissue of some mammals, composed of fast twitch muscle fibers.


superior sagittal sinus

description: The superior sagittal sinus (also known as the superior longitudinal sinus), within a human cranium, is an area above/behind the brain, which allows blood veins to span the area, from the top of the head towards the back. It is believed that the cerebrospinal fluid drains through the arachnoid granulations into the dural venous sinuses of the superior sagittal sinus. [WP,unvetted].


Claw

description: The curved, pointed appendage on the distal end of a digit, composed of keratin.


venous dural sinus

description: A venous channel found between layers of dura mater in the brain. Receives blood from internal and external veins of the brain, receive cerebrospinal fluid (CSF) from the subarachnoid space, and ultimately empty into the internal jugular vein.


viscus

description: An organ that is located within the body cavity (or in its extension, in the scrotum); it consists of organ parts that are embryologically derived from endoderm, splanchnic mesoderm or intermediate mesoderm; together with other organs, the viscus constitutes the respiratory, gastrointestinal, urinary, reproductive and immune systems, or is the central organ of the cardiovascular system. Examples: heart, lung, esophagus, kidney, ovary, spleen.


venous sinus

description: A large vein or channel for the circulation of venous blood.


neural decussation

description: Nerve fibers crossing the midline of the neuraxis relative to their point of origin, on a course to from one level of the nervous system to another. (CUMBO, Heimer, L. The Human Brain, 2nd ed., 1995, pg 6).


cavernous sinus

description: The cavernous sinus (or lateral sellar compartment), within the human head, is a large collection of thin-walled veins creating a cavity bordered by the temporal bone of the skull and the sphenoid bone, lateral to the sella turcica.


anatomical space

description: Non-material anatomical entity of three dimensions, that is generated by morphogenetic or other physiologic processes; is surrounded by one or more anatomical structures; contains one or more organism substances or anatomical structures.


Adnexa

description: An appendage or accessory structure of an adjacent or related organ.


multicellular organism

description: Anatomical structure that is an individual member of a species and consists of more than one cell.


anatomical projection

description: A projection or outgrowth of tissue from a larger body or organ.


inferior sagittal sinus

description: An intracranial venous sinus that lies in a midline location along the lower free border of the falx cerebri of the brain. The sinus receives blood from the great cerebral vein and joins the superior sagittal sinus posteriorly.


slow muscle tissue

description: The darker-colored muscle tissue of some mammals, composed of slow twitch muscle fibers.


intestinal villus

description: The tiny hair-like projections that protrude from the inside of the small intestine that contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; the villi increase the absorptive surface area of the small intestine by approximately 30-fold.


name: mesenchymal stem cell maintenance involved in metanephric nephron morphogenesis

description: The process in which an organism retains a population of mesenchymal stem cells that contributes to the shaping of a nephron in the metanephros. A mesenchymal stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized mesenchymal cells.


name: mesenchymal stem cell maintenance involved in mesonephric nephron morphogenesis

description: The process in which an organism retains a population of mesenchymal stem cells that contributes to the shaping of a nephron in the mesonephros. A mesenchymal stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized mesenchymal cells.


name: skeletal muscle satellite stem cell maintenance involved in skeletal muscle regeneration

description: Any process by which the number of skeletal muscle satellite stem cells in a skeletal muscle is maintained during skeletal muscle regeneration. There are at least two mechanisms by which this is achieved. Skeletal muscle satellite stem cell asymmetric division ensures satellite stem cell numbers are kept constant. Symmetric division of these cells amplifies the number of skeletal muscle satellite stem cells.


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).


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.


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.


medial plantar nerve

description: A plantar nerve that supplies the medial side of the plantar part of the foot, including pedal digit 1.


plantar nerve

description: A nerve that innervates the sole of the foot. Planar nerves arise from the posterior branch of the tibial nerve.


lateral plantar nerve

description: A plantar nerve that supplies the lateral side of the plantar part of the foot, including pedal digit 5.


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: regulation of trans-synaptic signaling by BDNF, modulating synaptic transmission

description: Any process that modulates the frequency, rate or extent of trans-synaptic signaling by BDNF, modulating synaptic transmission.


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.


(S)-citramalyl-CoA lyase activity

description: Catalysis of the reaction: (3S)-citramalyl-CoA = acetyl-CoA + pyruvate.


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.


articular capsule of glenohumeral joint

description: An articular capsule that is part of the glenohumeral joint.


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.


host-seeking behavior

description: The specific behavior of an organism that are associated with finding a host organism; may include behavioral responses to light, temperature, or chemical emanations from the prospective host.


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: 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.


RNA polymerase V complex

description: RNA polymerase V is a multisubunit RNA polymerase complex found in the nucleus of plants and involved in accumulation of siRNAs and in DNA methylation-dependent silencing of endogenous repeated sequences. Pol V is composed of subunits that are paralogous or identical to the 12 subunits of Pol II. Two large subunits comprise the most conserved portion including the catalytic site and share similarity with other eukaryotic and bacterial multisubunit RNA polymerases. The second largest subunit is also found in RNA polymerase IVa, while the largest subunit is found only in the IVa complex and contains an extended C-terminal domain (CTD) that includes multiple repeats of a 16 amino-acid consensus sequence as well as other sequences. The remainder of the complex is composed of smaller subunits.


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.


ABC-type molybdate transporter activity

description: Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + molybdate(out) = ADP + phosphate + molybdate(in).


name: molybdate ion transmembrane transporter activity

description: Enables the transfer of molybdate (MoO4 2-) ions from one side of a membrane to the other. Molybdate is the bivalent anion derived from molybdic acid.


prostaglandin binding

description: Binding to prostaglandin.


(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.


name: spermidine import across plasma membrane

description: The directed movement of spermidine from outside of a cell, across the plasma membrane and into the cytosol.


transport

description: The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or a transporter complex, a pore or a motor protein.


oligosaccharide transport

description: The directed movement of oligosaccharides into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Oligosaccharides are molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages.


cortisol secretion

description: The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland.


name: (+)-abscisic acid D-glucopyranosyl ester transmembrane transport

description: The process in which (+)-abscisic acid D-glucopyranosyl este is transported across a membrane.


L-valine transmembrane transport

description: The directed movement of L-valine across a membrane.


glutathione transport

description: The directed movement of glutathione, the tripeptide glutamylcysteinylglycine, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


name: neurotransmitter receptor transport postsynaptic membrane to endosome

description: Vesicle-mediated transport of a neurotransmitter receptor complex from the postsynaptic membrane to the postsynaptic early endosome.


acyl carnitine transport

description: The directed movement of acyl carnitine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Acyl carnitine is the condensation product of a carboxylic acid and carnitine and is the transport form for a fatty acid crossing the mitochondrial membrane.


extracellular amino acid transport

description: The directed extracellular movement of amino acids.


maltodextrin transmembrane transport

description: The directed movement of maltodextrin, any polysaccharide of glucose residues in beta-(1,4) linkage, across a membrane.


name: anterograde axonal transport of mitochondrion

description: The directed movement of mitochondria along microtubules in axons away from the cell body and towards the presynapse.


name: pantothenate import across plasma membrane

description: The directed movement of pantothenate from outside of a cell, across the plasma membrane and into the cytosol.


siderophore transmembrane transport

description: The directed movement of siderophores, low molecular weight Fe(III)-chelating substances, from one side of a membrane to the other, by means of some agent such as a transporter or pore.


zinc ion import into zymogen granule

description: The directed import of zinc(2+) from the cytosol, across an organelle membrane, into a zymogen granule.


nicotinamide mononucleotide transport

description: The directed movement of nicotinamide mononucleotide into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Nicotinamide mononucleotide is a ribonucleotide in which the nitrogenous base, nicotinamide, is in beta-n-glycosidic linkage with the c-1 position of D-ribose. It is a constituent of NAD and NADP.


name: mitochondrial manganese ion transmembrane transport

description: The process in which a manganese ion is transported across a mitochondrial membrane, into or out of the mitochondrion.


description: The regulated release of norepinephrine by a cell, in which the norepinephrine acts as a neurotransmitter.


intracellular transport

description: The directed movement of substances within a cell.


fructose import across plasma membrane

description: The directed movement of fructose substance from outside of a cell, across the plasma membrane and into the cytosol.


name: exocytic insertion of neurotransmitter receptor to postsynaptic membrane

description: The exocytic fusion of neurotransmitter receptor containing vesicles with the postsynaptic membrane resulting in the integration of NT receptors, enabling them to participate in neurotransmitter reception. This process includes tethering and docking steps that prepare vesicles for fusion.


dendritic transport of mitochondrion

description: The directed movement of mitochondria along microtubules in nerve cell dendrites.


leukotriene transport

description: The directed movement of leukotrienes into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Leukotrienes are linear C20 endogenous metabolites of arachidonic acid (icosa-5,8,11,14-tetraenoic acid) containing a terminal carboxy function and four or more double bonds (three or more of which are conjugated) as well as other functional groups.


milk ejection reflex

description: A reflex that occurs in response to suckling, beginning with a nerve impulse from a receptor in the mammary gland and ending with the ejection of milk from the gland. Signaling never reaches a level of consciousness.


glycine import across plasma membrane

description: The directed movement of glycine from outside of a cell, across the plasma membrane and into the cytosol.


octopamine secretion

description: The controlled release of octopamine by a cell.


thiamine import across plasma membrane

description: The directed movement of thiamine from outside of a cell, across the plasma membrane and into the cytosol.


name: L-arginine transmembrane import into vacuole

description: The directed movement of L-arginine into the vacuole across the vacuolar membrane.


name: UDP-galactose transmembrane import into Golgi lumen

description: The directed movement of UDP-galactose into the Golgi lumen across the Golgi membrane.


name: positive regulation of signal transduction by receptor internalization

description: Any process in which the internalization of a signaling receptor activates or increases the frequency, rate or extent of signal transduction. Receptor internalization can enhance signaling by concentrating signaling molecules in one location, or by moving a ligand-activated receptor to the location of downstream signaling proteins. Endosomes for example can serve as important intracellular signaling platforms.


name: B cell receptor transport into immunological synapse

description: The directed movement of a B cell receptor into an immunological synapse.


methylammonium transmembrane transport

description: The process in which methylammonium is transported across a membrane.


arabinotriose transport

description: The directed movement of an arabinotrioseacetate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


cGMP transport

description: The directed movement of cyclic GMP (cGMP), into, out of or within a cell.


description: The regulated release of acetylcholine by a cell. The acetylcholine acts as a neurotransmitter that acts in both the peripheral nervous system (PNS) and central nervous system (CNS).


microtubule-based transport

description: A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.


name: nuclear migration involved in conjugation with mutual genetic exchange

description: The net movement of nuclei towards one another, leading to the bilateral transfer of genetic material in organisms undergoing conjugation without cellular fusion.


follicle-stimulating hormone secretion

description: The regulated release of follicle-stimulating hormone, a gonadotropic glycoprotein hormone secreted by the anterior pituitary.


name: isopentenyl pyrophosphate import into mitochondrion

description: The process in which isopentenyl pyrophosphate is transported across a membrane into the mitochondrion.


spermidine transmembrane transport

description: The process in which spermidine is transported across a membrane.


name: L-histidine transmembrane export from vacuole

description: The directed movement of L-histidine out of the vacuole, across the vacuolar membrane.


name: xenobiotic transport across blood-nerve barrier

description: The directed movement of a xenobiotic through the blood-nerve barrier.


name: guanine nucleotide transmembrane transport

description: The process in which a guanyl nucleotide is transported across a membrane.


glutamine secretion

description: The controlled release of glutamine by a cell.


name: positive regulation of insulin receptor signaling pathway by insulin receptor internalization

description: Any process in which internalization of an insulin receptor activates or increases the frequency, rate or extent of the insulin receptor signaling pathway. Endocytosis of activated receptors can concentrate receptors within endosomes and allow the insulin receptor to phosphorylate substrates that are spatially distinct from those accessible at the plasma membrane.


aminophospholipid translocation

description: The movement of an aminophospholipid molecule from one leaflet of a membrane bilayer to the opposite leaflet.


name: L-glutamate import across plasma membrane

description: The directed movement of L-glutamate from outside of a cell, across the plasma membrane and into the cytosol.


ceramide translocation

description: The movement of a ceramide molecule from one leaflet of a membrane bilayer to the opposite leaflet.


methionine transport

description: The directed movement of methionine, 2-amino-4-(methylthio)butanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


name: protein transport along microtubule to mitotic spindle pole body

description: The directed movement of a protein along a microtubule to the mitotic spindle pole body, mediated by motor proteins.


methylgalactoside transport

description: The directed movement of methylgalactoside into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Methylgalactoside is a compound in which the H of the OH group on carbon-1 of galactose is replaced by a methyl group.


name: copper ion transport across blood-cerebrospinal fluid barrier

description: The directed movement of copper (Cu) ions passing through the blood-cerebrospinal fluid barrier.


name: phosphoenolpyruvate-dependent sugar phosphotransferase system

description: The uptake and phosphorylation of specific carbohydrates from the extracellular environment; uptake and phosphorylation are coupled, making the PTS a link between the uptake and metabolism of sugars; phosphoenolpyruvate is the original phosphate donor; phosphoenolpyruvate passes the phosphate via a signal transduction pathway, to enzyme 1 (E1), which in turn passes it on to the histidine protein, HPr; the next step in the system involves sugar-specific membrane-bound complex, enzyme 2 (EII), which transports the sugar into the cell; it includes the sugar permease, which catalyzes the transport reactions; EII is usually divided into three different domains, EIIA, EIIB, and EIIC.


bicyclomycin transmembrane transport

description: The directed movement of bicyclomycin across a lipid bilayer, from one side of a membrane to the other. Bicyclomycin (or bicozamycin) is an antibacterial drug often used as a livestock feed additive.


renin secretion into blood stream

description: The regulated release of renin into the blood stream by juxtoglomerular cells.


name: glutathione transmembrane import into vacuole

description: The directed movement of glutathione into the vacuole across the vacuolar membrane.


description: The process in which glycerol-2-phosphate is transported across a membrane. Glycerol-2-phosphate is a phosphoric monoester of glycerol.


cysteine transmembrane transport

description: The directed movement of cysteine across a membrane.


beta-glucan transport

description: The directed movement of beta-glucans into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Beta-glucans are compounds composed of glucose residues linked by beta-glucosidic bonds.


zinc ion export from vacuole

description: The directed movement of zinc ions from inside the vacuole across the vacuolar membrane and into the cytosol.


vitamin B6 transport

description: The directed movement of any of the vitamin B6 compounds -- pyridoxal, pyridoxamine and pyridoxine and the active form, pyridoxal phosphate -- into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


name: mitochondrial alpha-ketoglutarate transmembrane transport

description: The process in which alpha-ketoglutarate is transported across a mitochondrial membrane, into or out of the mitochondrion.


evoked neurotransmitter secretion

description: Neurotransmitter secretion that occurs in the presence of the action of a secretagogue or a presynaptic action potential.


juvenile hormone secretion

description: The regulated release of juvenile hormones, the three sesquiterpenoid derivatives that function to maintain the larval state of insects at molting and that may be required for other processes, e.g. oogenesis.


intermembrane phospholipid transfer

description: The transport of phospholipids between membranes in which a phospholipid molecule is transported through an aqueous phase from the outer leaflet of a donor membrane to the outer leaflet of an acceptor membrane.


D-glucuronate transmembrane transport

description: The process in which D-glucuronate, the D-enantiomer of glucuronate, is transported across a lipid bilayer, from one side of a membrane to the other.


name: mitochondrial rRNA export from mitochondrion

description: The process in which a rRNA, ribosomal ribonucleic acid, is transported from the mitochondrial matrix into the cytosol.


thiosulfate transport

description: The directed movement of thiosulfate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


export from cell

description: The directed movement of some substance from a cell, into the extracellular region. This may occur via transport across the plasma membrane or via exocytosis.


quinolinic acid transmembrane transport

description: The process in which quinolinic acid is transported across a membrane.


description: The process in which phosphoglycerate is transported across a lipid bilayer, from one side of a membrane to the other.


aspartate secretion, neurotransmission

description: The regulated release of aspartate by a cell in which the aspartate acts as a neurotransmitter.


N-acetylglucosamine transport

description: The directed movement of N-acetylglucosamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


glycolate transport

description: The directed movement of a glycolate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


name: macropinocytosis involved in viral entry into host cell

description: Any macropinocytosis that is involved in the uptake of a virus into a host cell.


hydroxycinnamic acid transport

description: The directed movement of a hydroxycinnamic acid into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


arabinitol transmembrane transport

description: The process in which arabitol is transported across a lipid bilayer, from one side of a membrane to the other. Arabitol is the pentitol derived from arabinose or lyxose by reduction of the aldehyde group. The D enantiomer is present in lichens and mushrooms.


misfolded protein transport

description: The directed movement of misfolded proteins in a cell, including the movement of proteins between specific compartments or structures within a cell.


basement membrane constituent secretion

description: The controlled release of molecules that form the basement membrane, including carbohydrates and glycoproteins by a cell.


endocytic heme import into cell

description: The directed movement into cell of externally available heme by receptor-mediated endocytosis.


threonine transport

description: The directed movement of threonine, (2R*,3S*)-2-amino-3-hydroxybutanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


surfactant secretion

description: The regulated release of surfactant by a cell or tissue.


phytochelatin transmembrane transport

description: The process in which a phytochelatin is transported across a membrane. Phytochelatins are a group of peptides that bind metals (Cd, Zn, Cu, Pb, Hg) in thiolate coordination complexes.


name: L-histidine import across plasma membrane

description: The directed movement of L-histidine from outside of a cell, across the plasma membrane and into the cytosol.


uracil transport

description: The directed movement of uracil, 2,4-dioxopyrimidine, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


description: The directed movement of peptidoglycan peptides into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Peptidoglycan peptides are the oligopeptides found in peptidoglycan networks which cross-link the polysaccharide chains.


peroxisome transport along microtubule

description: The directed movement of a peroxisome along a microtubule, mediated by motor proteins.


name: fast, calcium ion-dependent exocytosis of neurotransmitter

description: The fast, initial phase of calcium ion-induced neurotransmitter release, via exocytosis, into the synaptic cleft. This depends on low affinity calcium sensors and typically begins a fraction of a millisecond after Ca2+ influx, and decays rapidly (1-10ms) with a decay constant of around 5-10ms. The underlying molecular mechanisms of this process are distinct from those of the later, slow phase of release.


name: renal sodium ion absorption involved in negative regulation of renal sodium excretion

description: Any process where sodium ions are taken up from the collecting ducts and proximal and distal loops of the nephron, which contributes to decreasing the amount of sodium that is excreted in urine per unit time.


name: proteasome core complex import into nucleus

description: The directed movement of the proteasome core complex (AKA core particle (CP)) from the cytoplasm into the nucleus.


postsynaptic endocytosis

description: A vesicle-mediated transport process in which the postsynapse take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.


name: acetylcholine-induced gastric acid secretion

description: The regulated release of gastric acid by parietal cells in response to acetylcholine.


name: release of sequestered calcium ion into postsynaptic cytosol

description: The process in which calcium ions sequestered in the endoplasmic reticulum, Golgi apparatus or mitochondria are released into the postsynaptic cytosol.


serotonin secretion by mast cell

description: The regulated release of serotonin by a mast cell or group of mast cells.


name: establishment of protease localization to T cell secretory granule

description: The directed movement of a protease to a location within a secretory granule in a T cell.


nicotinamide riboside transport

description: The directed movement of a nicotinamide riboside, which is a pyridine-3-carboxamide covalently bonded to a ribose sugar, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


BMP secretion

description: The controlled release of a member of the BMP family of proteins from a cell.


citric acid secretion

description: The controlled release of citric acid, 2-hydroxy-1,2,3-propanetricarboxylic acid, by a cell or a tissue.


name: histamine secretion mediated by immunoglobulin

description: Histamine release triggered by the binding of an antigen to an immunoglobulin bound to the cell surface.


dehydroepiandrosterone secretion

description: The regulated release of dehydroepiandrosterone (3beta-hydroxyandrost-5-en-17-one) into the circulatory system.


acetyl-CoA transmembrane transport

description: The process in which acetyl-CoA is transported across a membrane. Acetyl-CoA is a derivative of coenzyme A in which the sulfhydryl group is acetylated; it is a metabolite derived from several pathways (e.g. glycolysis, fatty acid oxidation, amino-acid catabolism) and is further metabolized by the tricarboxylic acid cycle. It is a key intermediate in lipid and terpenoid biosynthesis.


biotin transport

description: The directed movement of biotin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Biotin is cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid; the (+) enantiomer is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions.


phloem loading

description: The process of loading solutes into the sieve tube or companion cell of the phloem for long distance transport from source to sink.


triose phosphate transport

description: The directed movement of triose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


homoserine transport

description: The directed movement of homoserine, alpha-amino-gamma-hydroxybutyric acid, an intermediate in the biosynthesis of cystathionine, threonine and methionine, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


name: anterograde neuronal dense core vesicle transport

description: The directed movement of substances in neuronal dense core vesicles along axonal microtubules towards the presynapse.


adenosine transport

description: The directed movement of adenosine, adenine riboside, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


isoleucine transmembrane transport

description: The directed movement of isoleucine across a membrane by means of some agent such as a transporter or a pore.


vascular transport

description: The directed movement of substances, into, out of or within a cell, either in a vascular tissue or in the vascular membrane.


mineralocorticoid secretion

description: The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism.


name: lipid transport across blood-brain barrier

description: The directed movement of lipid molecules passing through the blood-brain barrier.


heme import into cell

description: The directed movement of a heme from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis.


protein transport out of membrane raft

description: The directed movement of a protein out of a membrane raft. Membrane rafts are small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes.


S-methylmethionine transport

description: The directed movement of S-methylmethionine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.


nuclear cortical migration

description: The symmetric outward movement of the syncytial nuclei from their positions in the ellipsoid toward the periphery of the embryo, during mitotic cycles 8 and 9. This movement results in the placement of nuclei in a uniform monolayer at the cortex of the developing embryo.


name: 5'-adenylyl sulfate transmembrane transport

description: The process in which 5'-adenylyl sulfate is transported across a membrane.


heme export

description: The directed movement of heme out of a cell or organelle.


transepithelial water transport

description: The directed movement of water (H2O) from one side of an epithelium to the other.


adenine import across plasma membrane

description: The directed movement of adenine from outside of a cell, across the plasma membrane and into the cytosol.


name: establishment of granzyme B localization to T cell secretory granule

description: The directed movement of the protease granzyme B to a location within a secretory granule in a T cell.


silver ion transmembrane transport

description: The directed movement of silver (Ag+) ions across a membrane.


name: microtubule polymerization based protein transport

description: The transport of a protein driven by polymerization of a microtubule to which it is attached.


calcitonin secretion

description: The regulated release of calcitonin, a peptide hormone that participates in calcium and phosphorus metabolism, from a cell.


purine nucleotide import into lysosome

description: The directed import of purine nucleotide from the cytosol, across the lysosomal membrane, into the lysosome.


chromaffin granule amine transport

description: The directed movement of amines into, out of or within chromaffin granules.


nitrate transmembrane transport

description: The directed movement of nitrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.