Persistence of hemoglobin F

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


Drug-sensitive hemolytic anemia

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

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.


Increased RBC distribution width

description: Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.


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.


Reduced hematocrit

description: A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.


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

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

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.


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.


name: Abnormality of bone marrow stromal cells


Abnormal eosinophil count

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


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.


name: Reduced erythrocyte porphobilinogen deaminase activity

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


name: Diminished neutrophil myeloperoxidase activity

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


Mucinous histiocytosis

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


name: Abnormality of neutrophil morphology in CSF

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


Impaired neutrophil chemotaxis

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


Circulating nucleated red blood cells

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


name: Non-caseating epithelioid cell granulomatosis

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


Abnormal platelet granules

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


name: Abnormal granulocytopoietic cell morphology

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


Intermittent thrombocytopenia

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


name: Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity

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


Steroid-responsive anemia

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


Stomatocytosis

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


Rouleaux formation

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


name: Abnormality of multiple cell lineages in the bone marrow


Abnormal erythrocyte morphology

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


Monocytosis

description: An increased number of circulating monocytes.


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.


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.


Increased red blood cell count

description: An abnormal elevation above the normal number of red blood cells per volume in the circulation.


Abnormal hemoglobin

description: Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.


Hepatic hemophagocytosis

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


Reduced bone-marrow pro-B cell count

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


Fava bean-induced hemolytic anemia

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


Megakaryocyte nucleus hyperlobulation

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


Howell-Jolly bodies

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


Hypersegmentation of neutrophil nuclei

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


Abnormal platelet morphology

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


name: Abnormal number of granulocyte precursors


Neutrophil inclusion bodies

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


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

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


Sickled erythrocytes

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


Pelger-Huet anomaly

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


Decreased red blood cell count

description: An abnormal reduction below the normal number of red blood cells per volume in the circulation.


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.


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.


name: Abnormal erythrocyte metabolite concentration

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


Bone marrow eosinophilia

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


name: Reduced erythrocyte inosine triphosphatase activity

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


Schistocytosis

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


name: Increased mean corpuscular hemoglobin concentration

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


Hemoglobin Barts

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


HbC hemoglobin

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


name: Increased circulating metamyelocyte count

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


Lymph-node hemophagocytosis

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


name: Abnormal morphology of erythroid progenitor cell

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


Reduced red cell pyruvate kinase level

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


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.


Increased mean corpuscular volume

description: Larger than normal size of erythrocytes.


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.


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).


Decreased mean platelet volume

description: Average platelet volume below the lower limit of the normal reference interval.


name: Reduced erythrocyte glutathione reductase activity

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


name: Ras-related protein Rab-4A isoform 1 (human)

description: A Ras-related protein Rab-4A isoform 1 that is encoded in the genome of human.


name: killer cell immunoglobulin-like receptor 2DL4 isoform h5 (human)

description: A killer cell immunoglobulin-like receptor 2DL4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q99706-5.


name: disintegrin and metalloproteinase domain-containing protein 15 isoform h10 (human)

description: A disintegrin and metalloproteinase domain-containing protein 15 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13444-10.


name: disintegrin and metalloproteinase domain-containing protein 15

description: A protein that is a translation product of the human ADAM15 gene or a 1:1 ortholog thereof.


name: disintegrin and metalloproteinase domain-containing protein 15 isoform h11 (human)

description: A disintegrin and metalloproteinase domain-containing protein 15 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13444-11.


name: disintegrin and metalloproteinase domain-containing protein 15 isoform h13 (human)

description: A disintegrin and metalloproteinase domain-containing protein 15 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13444-13.


name: disintegrin and metalloproteinase domain-containing protein 15 isoform h1 (human)

description: A disintegrin and metalloproteinase domain-containing protein 15 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13444-1.


name: disintegrin and metalloproteinase domain-containing protein 15 isoform h2 (human)

description: A disintegrin and metalloproteinase domain-containing protein 15 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13444-2.


name: disintegrin and metalloproteinase domain-containing protein 15 cysteinylated 2 (human)

description: A disintegrin and metalloproteinase domain-containing protein 15 (human) that has been cysteinylated on the residue at the position equivalent to Cys-733 of the amino acid sequence represented by UniProtKB:Q13444-1. Example: UniProtKB:Q13444-1, Cys-733, MOD:00765.


name: disintegrin and metalloproteinase domain-containing protein 15 isoform h4 (human)

description: A disintegrin and metalloproteinase domain-containing protein 15 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13444-4.


name: disintegrin and metalloproteinase domain-containing protein 15 isoform h3 (human)

description: A disintegrin and metalloproteinase domain-containing protein 15 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13444-3.


name: disintegrin and metalloproteinase domain-containing protein 15 isoform h5 (human)

description: A disintegrin and metalloproteinase domain-containing protein 15 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13444-5.


name: disintegrin and metalloproteinase domain-containing protein 15 isoform h6 (human)

description: A disintegrin and metalloproteinase domain-containing protein 15 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13444-6.


name: disintegrin and metalloproteinase domain-containing protein 15 isoform h8 (human)

description: A disintegrin and metalloproteinase domain-containing protein 15 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13444-8.


name: disintegrin and metalloproteinase domain-containing protein 15 isoform h12 (human)

description: A disintegrin and metalloproteinase domain-containing protein 15 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13444-12.


name: disintegrin and metalloproteinase domain-containing protein 15 isoform h9 (human)

description: A disintegrin and metalloproteinase domain-containing protein 15 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13444-9.


name: disintegrin and metalloproteinase domain-containing protein 15 cysteinylated 1 (human)

description: A disintegrin and metalloproteinase domain-containing protein 15 (human) that has been cysteinylated on the residue at the position equivalent to Cys-117 of the amino acid sequence represented by UniProtKB:Q13444-1. Example: UniProtKB:Q13444-1, Cys-117, MOD:00765.


name: disintegrin and metalloproteinase domain-containing protein 15 isoform h7 (human)

description: A disintegrin and metalloproteinase domain-containing protein 15 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13444-7.


name: disintegrin and metalloproteinase domain-containing protein 15 deaminated 1 (human)

description: A disintegrin and metalloproteinase domain-containing protein 15 (human) that has been deaminated on the residue at the position equivalent to Asn-237 of the amino acid sequence represented by UniProtKB:Q13444-1. Example: UniProtKB:Q13444-1, Asn-237, MOD:00684.


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

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


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

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


ammonium magnesium phosphate

An inorganic phosphate that is the ammonium magnesium salt of phosphoric acid.


name: zinc finger E-box-binding homeobox 2 phosphorylated 1 (human)

description: A zinc finger E-box-binding homeobox 2 (human) that has been phosphorylated on the residue at the position equivalent to Ser-705 of the amino acid sequence represented by UniProtKB:O60315-1. Example: UniProtKB:O60315-1, Ser-705, MOD:00046.


name: zinc finger E-box-binding homeobox 2 isoform h2 (human)

description: A zinc finger E-box-binding homeobox 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60315-2.


name: zinc finger E-box-binding homeobox 2 isoform h1 (human)

description: A zinc finger E-box-binding homeobox 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60315-1.


conjunctival vascular disorder

description: A disorder of the vasculature of the cornea.


name: microphthalmia, isolated, with coloboma, non-human animal

description: Microphthalmia, isolated, with coloboma that occurs in non-human animals.


name: microphthalmia, isolated, with coloboma, dog

description: Microphthalmia, isolated, with coloboma that occurs in dog.


name: DNA replication factor Cdt1 phosphorylated 1 (human)

description: A DNA replication factor Cdt1 (human) that has been phosphorylated on the residue at the position equivalent to Ser-394 of the amino acid sequence represented by UniProtKB:Q9H211. UniProtKB:Q9H211, Ser-394, MOD:00046.


name: DNA replication factor Cdt1 isoform 1 acetylated 1 (human)

description: A DNA replication factor Cdt1 isoform 1 acetylated 1 in human. UniProtKB:Q9H211-1, Lys-24/Lys-49, MOD:00064.


name: DNA replication factor Cdt1 isoform 1 (human)

description: A DNA replication factor Cdt1 isoform 1 that is encoded in the genome of human.


name: S-adenosylhomocysteine hydrolase-like protein 1 phosphorylated 1 (human)

description: An S-adenosylhomocysteine hydrolase-like protein 1 (human) that has been phosphorylated on the residue at the position equivalent to Ser-103 of the amino acid sequence represented by UniProtKB:O43865-1. Example: UniProtKB:O43865-1, Ser-103, MOD:00046.


beta-onocerin

A triterpenoid that is ethane in which each carbon has been substituted by a (4aS,6S,8aS)-6-hydroxy-2,5,5,8a-tetramethyl-3,4,4a,5,6,7,8,8a-octahydronaphthalen-1-yl group.


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: 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


Prinzmetal angina

description: A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma.


Heart murmur

description: An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.


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.


Atypical angina

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


Palpitations

description: A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.


name: Abnormal axonemal organization of respiratory motile cilia

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


Invasive Tubular Urothelial Carcinoma

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


name: Invasive Bladder Tubular Urothelial Carcinoma

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


mycotic endocarditis

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


plasmolipin

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


plasmolipin isoform 1 (human)

A plasmolipin isoform 1 that is encoded in the genome of human.


name: COMM domain-containing protein 7 isoform h2 (human)

description: A COMM domain-containing protein 7 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q86VX2-2.


COMM domain-containing protein 7

A protein that is a translation product of the human COMMD7 gene or a 1:1 ortholog thereof.


name: COMM domain-containing protein 7 isoform 1 (human)

description: A COMM domain-containing protein 7 isoform 1 that is encoded in the genome of human.


name: COMM domain-containing protein 7 cysteinylated 1 (human)

description: A COMM domain-containing protein 7 (human) that has been cysteinylated on the residue at the position equivalent to Cys-198 of the amino acid sequence represented by UniProtKB:Q86VX2-1. Example: UniProtKB:Q86VX2-1, Cys-198, MOD:00765.


polyp of sphenoidal sinus

description: A polyp that involves the sphenoidal sinus.


name: very large A-kinase anchor protein phosphorylated 3 (human)

description: A very large A-kinase anchor protein (human) that has been phosphorylated on the residue at the position equivalent to Ser-1520 of the amino acid sequence represented by UniProtKB:Q68DQ2-3. Example: UniProtKB:Q68DQ2-3, Ser-1520, MOD:00046.


nucleoporin p58/p45 isoform 3 (human)

A nucleoporin p58/p45 isoform 3 that is encoded in the genome of human.


name: plasma protease C1 inhibitor isoform h1 (human)

description: A plasma protease C1 inhibitor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P05155-1.


Limitation of neck motion

description: Limited mobility of the neck, usually accompanied by pain.


Limited neck extension

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


Stiff neck

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


Nuchal rigidity

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


Limited neck flexion

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


Limited head rotation

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


Limited lateral neck flexion

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


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

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


name: T-complex protein 1 subunit alpha cysteinylated 2 (human)

description: A T-complex protein 1 subunit alpha (human) that has been cysteinylated on the residue at the position equivalent to Cys-397 of the amino acid sequence represented by UniProtKB:P17987. UniProtKB:P17987, Cys-397, MOD:00765.


name: cellular tumor antigen p53 sequence variant E180* (human)

description: A cellular tumor antigen p53 (human) that has has been truncated after the position equivalent to His-179 of the amino acid sequence represented by UniProtKB:P04637-1. Example: UniProtKB:P04637-1, 1-179.


protocadherin-15 isoform h3 (human)

A protocadherin-15 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96QU1-3.


name: actin-related protein 5 cysteinylated 1 (human)

description: An actin-related protein 5 (human) that has been cysteinylated on the residue at the position equivalent to Cys-155 of the amino acid sequence represented by UniProtKB:Q9H9F9. UniProtKB:Q9H9F9, Cys-155, MOD:00765.


name: actin-related protein 5 deaminated 1 (human)

description: An actin-related protein 5 (human) that has been deaminated on the residue at the position equivalent to Gln-41 of the amino acid sequence represented by UniProtKB:Q9H9F9. UniProtKB:Q9H9F9, Gln-41, MOD:00685.


homeobox protein Hox-C8

A protein that is a translation product of the human HOXC8 gene or a 1:1 ortholog thereof.


name: homeobox protein Hox-C8 isoform 1 (human)

description: A homeobox protein Hox-C8 isoform 1 that is encoded in the genome of human.


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).


complement factor B

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


name: complement factor B, signal peptide removed form (human)

description: A complement factor B (human) that has had the signal peptide removed. UniProtKB:P00751, 26-764.


name: complement factor B phosphorylated 1 (human)

description: A complement factor B (human) that has been phosphorylated on the residue at the position equivalent to Ser-709 of the amino acid sequence represented by UniProtKB:P00751-1. Example: UniProtKB:P00751-1, Ser-709, MOD:00046.


complement factor B isoform h1 (human)

A complement factor B (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P00751-1.


complement factor B isoform h2 (human)

A complement factor B (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P00751-2.


name: complement factor B O-glycosylated 1 (human)

description: A complement factor B (human) that has been O-glycosylated at the residue equivalent to Thr-25 of the amino acid sequence represented by UniProtKB:P00751-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P00751-1, Thr-25, MOD:00005~GNO:G53434XO.


name: complement factor B N-glycosylated 1 (human)

description: A complement factor B (human) that has been N-glycosylated at the residue equivalent to Asn-285 of the amino acid sequence represented by UniProtKB:P00751-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P00751-1, Asn-285, MOD:00160~GNO:G00912UN.


name: complement factor B O-glycosylated 2 (human)

description: A complement factor B (human) that has been O-glycosylated at the residue equivalent to Thr-26 of the amino acid sequence represented by UniProtKB:P00751-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P00751-1, Thr-26, MOD:00005~GNO:G43417UB.


name: complement factor B deaminated 1 (human)

description: A complement factor B (human) that has been deaminated on the residue at the position equivalent to Gln-626 of the amino acid sequence represented by UniProtKB:P00751-1. Example: UniProtKB:P00751-1, Gln-626, MOD:00685.


Periodic hypokalemic paresis

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


periodic paralysis

description: Episodes of muscle weakness.


A hydroperoxy fatty acid that is (14R,15S)-epoxy-(5Z,8Z,10E)-icosatrienoic acid in which the hydroperoxy group is located at position 12S.


hypotrichosis 3

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


name: T-box transcription factor TBX4 isoform h2 (human)

description: A T-box transcription factor TBX4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P57082-2.


homeobox protein HMX2 isoform 1 (human)

A homeobox protein HMX2 isoform 1 that is encoded in the genome of human.


name: outer dense fiber protein 2 isoform h8 (human)

description: An outer dense fiber protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5BJF6-8.


name: cellular tumor antigen p53 sequence variant Q5* (human)

description: A cellular tumor antigen p53 (human) that has has been truncated after the position equivalent to Pro-4 of the amino acid sequence represented by UniProtKB:P04637-1. Example: UniProtKB:P04637-1, 1-4.


protein tyrosine phosphatase type IVA 3

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


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

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


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

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


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

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


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

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


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

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


spindle cell synovial sarcoma

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


childhood spindle cell rhabdomyosarcoma

description: A spindle cell rhabdomyosarcoma occurring in children.


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: elongator complex protein 2 isoform h3 (human)

description: An elongator complex protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6IA86-3.


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.


Alveolar ridge overgrowth

description: Increased width of the alveolar ridges.


Unilateral alveolar cleft of maxilla

description: One sided alveolar cleft of the maxilla.


name: EH domain-containing protein 1 isoform 1 (human)

description: An EH domain-containing protein 1 isoform 1 that is encoded in the genome of human.


name: EH domain-containing protein 1 deaminated 1 (human)

description: An EH domain-containing protein 1 (human) that has been deaminated on the residue at the position equivalent to Gln-81 of the amino acid sequence represented by UniProtKB:Q9H4M9. UniProtKB:Q9H4M9, Gln-81, MOD:00685.


name: FK506-binding protein 15 isoform h1 (human)

description: An FK506-binding protein 15 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q5T1M5-1.


name: leucine-rich glioma-inactivated protein 1 isoform 1 (human)

description: A leucine-rich glioma-inactivated protein 1 isoform 1 that is encoded in the genome of human.


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.


sterol biosynthesis disorder

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


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

description: X-linked form of chondrodysplasia punctata.


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.


name: cholesterol biosynthetic process disease

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


A nucleoside 3',5'-cyclic phosphorothioate having 7-bromo-7-deazaadenine as the nucleobase (the Rp-stereoisomer).


name: kinesin light chain 1 phosphorylated 2 (human)

description: A kinesin light chain 1 (human) that has been phosphorylated on the residue at the position equivalent to Ser-460 of the amino acid sequence represented by UniProtKB:Q07866-1. Example: UniProtKB:Q07866-1, Ser-460, MOD:00046.


N-acetyl-L-methionyl-L-valine

A dipeptide obtained by formal condensation of the carboxy group of N-acetyl-L-methionine with the amino group of L-valine.


name: mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform 1 (human)

description: A mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform 1 that is encoded in the genome of human.


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.


RE1-silencing transcription factor

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


name: RE1-silencing transcription factor isoform h4 (human)

description: An RE1-silencing transcription factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13127-4.


name: RE1-silencing transcription factor deaminated 1 (human)

description: An RE1-silencing transcription factor (human) that has been deaminated on the residue at the position equivalent to Asn-912 of the amino acid sequence represented by UniProtKB:Q13127-1. Example: UniProtKB:Q13127-1, Asn-912, MOD:00684.


name: RE1-silencing transcription factor methylated 1 (human)

description: An RE1-silencing transcription factor (human) that has been methylated on the residue at the position equivalent to Cys-945 of the amino acid sequence represented by UniProtKB:Q13127-1. Example: UniProtKB:Q13127-1, Cys-945, MOD:00660.


name: RE1-silencing transcription factor isoform h2 (human)

description: An RE1-silencing transcription factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13127-2.


name: RE1-silencing transcription factor isoform h1 (human)

description: An RE1-silencing transcription factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13127-1.


name: RE1-silencing transcription factor isoform h3 (human)

description: An RE1-silencing transcription factor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13127-3.


name: RE1-silencing transcription factor cysteinylated 1 (human)

description: An RE1-silencing transcription factor (human) that has been cysteinylated on the residue at the position equivalent to Cys-945 of the amino acid sequence represented by UniProtKB:Q13127-1. Example: UniProtKB:Q13127-1, Cys-945, MOD:00765.


name: xeroderma pigmentosum, autosomal dominant, mild


name: neuronopathy, distal hereditary motor, type 5A


Anti-ADAMTS13 antibody positivity

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


name: schmid metaphyseal chondrodysplasia dwarfism, pig

description: Schmid metaphyseal chondrodysplasia dwarfism that occurs in pig.


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

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


Pfeiffer syndrome type 3

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


Pfeiffer syndrome type 2

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


Pfeiffer syndrome type 1

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


name: LIM domain transcription factor LMO4 cysteinylated 1 (human)

description: A LIM domain transcription factor LMO4 (human) that has been cysteinylated on the residue at the position equivalent to Cys-64 of the amino acid sequence represented by UniProtKB:P61968. UniProtKB:P61968, Cys-64, MOD:00765.


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: F-box only protein 5 phosphorylated form (human)

description: An F-box only protein 5 (human) that includes at least one phosphorylated residue. UniProtKB:Q9UKT4, MOD:00696.


name: WAP four-disulfide core domain protein 2 isoform h4 (human)

description: A WAP four-disulfide core domain protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14508-4.


name: Small intestinal lymphoplasmacytic infiltrate

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


name: secreted frizzled-related protein 1 O-glycosylated 2 (human)

description: A secreted frizzled-related protein 1 (human) that has been O-glycosylated at the residue equivalent to Thr-175 of the amino acid sequence represented by UniProtKB:Q8N474-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q8N474-1, Thr-175, MOD:00005~GNO:G43417UB.


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.


name: NADPH:adrenodoxin oxidoreductase, mitochondrial isoform Long (human)

description: An NADPH:adrenodoxin oxidoreductase, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P22570-2.


exostosis

description: Non-neoplastic overgrowth of bone.


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: glucosidase 2 subunit beta O-glycosylated 6 (human)

description: A glucosidase 2 subunit beta (human) that has been O-glycosylated at the residue equivalent to Thr-287 of the amino acid sequence represented by UniProtKB:P14314-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P14314-1, Thr-287, MOD:00005~GNO:G43417UB.


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.


tafazzin isoform h2 (human)

A tafazzin (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q16635-2.


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

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


name: hypoxia up-regulated protein 1 O-glycosylated 2 (human)

description: A hypoxia up-regulated protein 1 (human) that has been O-glycosylated at the residue equivalent to Ser-634 of the amino acid sequence represented by UniProtKB:Q9Y4L1-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9Y4L1-1, Ser-634, MOD:00002~GNO:G43417UB.


nephrotic syndrome, type 12

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


name: prolyl 3-hydroxylase 3, signal peptide removed form (human)

description: A prolyl 3-hydroxylase 3 (human) that has had the signal peptide removed. Example: UniProtKB:Q8IVL6-1, 21-736.


Childhood Small Intestinal Carcinoma

description: A small intestinal carcinoma occurring in childhood.


name: Childhood Malignant Small Intestinal Neoplasm

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


name: Childhood Small Intestinal Leiomyosarcoma

description: A small intestinal leiomyosarcoma occurring in childhood.


Absence of subcutaneous fat

description: Lack of subcutaneous adipose tissue.


name: Loss of subcutaneous adipose tissue from upper limbs


name: Loss of gluteal subcutaneous adipose tissue

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


name: Loss of truncal subcutaneous adipose tissue

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


name: Loss of subcutaneous adipose tissue in limbs

description: Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.


Loss of facial adipose tissue

description: Loss of normal subcutaneous fat tissue in the face.


name: NLR family CARD domain-containing protein 3 isoform h1 (human)

description: An NLR family CARD domain-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7RTR2-1.


name: NLR family CARD domain-containing protein 3 isoform h4 (human)

description: An NLR family CARD domain-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7RTR2-4.


name: NLR family CARD domain-containing protein 3 isoform h3 (human)

description: An NLR family CARD domain-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7RTR2-3.


name: NLR family CARD domain-containing protein 3 deaminated 1 (human)

description: An NLR family CARD domain-containing protein 3 (human) that has been deaminated on the residue at the position equivalent to Asn-721 of the amino acid sequence represented by UniProtKB:Q7RTR2-1. Example: UniProtKB:Q7RTR2-1, Asn-721, MOD:00684.


name: NLR family CARD domain-containing protein 3 isoform h2 (human)

description: An NLR family CARD domain-containing protein 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7RTR2-2.


name: inorganic pyrophosphatase 2, mitochondrial, transit peptide removed form (human)

description: An inorganic pyrophosphatase 2, mitochondrial (human) that has had the transit peptide removed. UniProtKB:Q9H2U2, 33-334.


endophilin-A1 isoform 1 (human)

An endophilin-A1 isoform 1 that is encoded in the genome of human.


name: solute carrier family 13 member 2 isoform h1 (human)

description: A solute carrier family 13 member 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13183-1.


granzyme H

A leukocyte granule-associated proteinase that is a translation product of the human GZMH gene or a 1:1 ortholog thereof.


granzyme H isoform h3 (human)

A granzyme H (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P20718-3.


granzyme H isoform 1 (human)

A granzyme H isoform 1 that is encoded in the genome of human.


granzyme H isoform h2 (human)

A granzyme H (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P20718-2.


name: combined oxidative phosphorylation defect type 9

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


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

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


septin-8 isoform h1 (human)

A septin-8 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q92599-1.


name: Rho-related GTP-binding protein RhoU phosphorylated 1 (human)

description: A Rho-related GTP-binding protein RhoU (human) that has been phosphorylated on the residue at the position equivalent to Tyr-254 of the amino acid sequence represented by UniProtKB:Q7L0Q8-1. Example: UniProtKB:Q7L0Q8-1, Tyr-254, MOD:00048.


name: Rho-related GTP-binding protein RhoU isoform h1 (human)

description: A Rho-related GTP-binding protein RhoU (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7L0Q8-1.


name: Rho-related GTP-binding protein RhoU isoform h2 (human)

description: A Rho-related GTP-binding protein RhoU (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q7L0Q8-2.


name: Hyperinsulinism in the Infant of a Diabetic Mother

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


A hydroxy fatty-acyl-CoA that results from the formal condensation of the thiol group of coenzyme A with the carboxy group of 2-hydroxyheptadecanoic acid


A hydroperoxydocosapentaenoic acid that is (8E,10Z,13Z,15E,19Z)-docosapentaenooic acid carrying two hydroperoxy substituents at positions 7 and 17. An intermediate of specialised proresolving mediators.


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.


name: leucine-rich repeat-containing protein 31 isoform h1 (human)

description: A leucine-rich repeat-containing protein 31 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6UY01-1.


(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: interferon lambda-2, signal peptide removed form (human)

description: An interferon lambda-2 (human) that has had the signal peptide removed. UniProtKB:Q8IZJ0, 26-200.


name: complement factor H N-glycosylated 6 (human)

description: A complement factor H (human) that has been N-glycosylated at the residue equivalent to Asn-1029 of the amino acid sequence represented by UniProtKB:P08603-1, in which the glycan structure is represented by GlyTouCan:G51941GC. Example: UniProtKB:P08603-1, Asn-1029, MOD:00160~GNO:G51941GC.


Complete Hearing Loss

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


sacsin cysteinylated 1 (human)

A sacsin (human) that has been cysteinylated on the residue at the position equivalent to Cys-3429 of the amino acid sequence represented by UniProtKB:Q9NZJ4-1. Example: UniProtKB:Q9NZJ4-1, Cys-3429, MOD:00765.


name: collagen alpha-1(II) chain cysteinylated 1 (human)

description: A collagen alpha-1(II) chain (human) that has been cysteinylated on the residue at the position equivalent to Cys-1393 of the amino acid sequence represented by UniProtKB:P02458-2. Example: UniProtKB:P02458-2, Cys-1393, MOD:00765.


lysophosphatidic acid receptor 1

A lysophospholipid (LPA) receptor that is a translation product of the human LPAR1 gene or a 1:1 ortholog thereof. It is expressed in many adult organs, including brain, heart, colon, small intestine, placenta, prostate, ovary, pancreas, testis, spleen, skeletal muscle, and kidney. There is little or no expression in liver, lung, thymus, or peripheral blood leukocytes.


name: lysophosphatidic acid receptor 1 isoform 1 (human)

description: A lysophosphatidic acid receptor 1 isoform 1 that is encoded in the genome of human.


name: lysophosphatidic acid receptor 1 isoform h2 (human)

description: A lysophosphatidic acid receptor 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q92633-2.


acinar prostate mucinous adenocarcinoma

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


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

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


name: PALM2-AKAP2 fusion protein cysteinylated 1 (human)

description: A PALM2-AKAP2 fusion protein (human) that has been cysteinylated on the residue at the position equivalent to Cys-436 of the amino acid sequence represented by UniProtKB:Q9Y2D5-4. Example: UniProtKB:Q9Y2D5-4, Cys-436, MOD:00765.


name: nuclear pore complex protein Nup107 deaminated 1 (human)

description: A nuclear pore complex protein Nup107 (human) that has been deaminated on the residue at the position equivalent to Gln-870 of the amino acid sequence represented by UniProtKB:P57740-1. Example: UniProtKB:P57740-1, Gln-870, MOD:00685.


CAMOS syndrome

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


name: Increased proportion of exhausted T cells

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


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

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


name: NADH dehydrogenase [ubiquinone] 1 subunit C2

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


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

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


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

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


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

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


sebaceous basal cell carcinoma

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


name: DNA-directed RNA polymerase II subunit RPB7 cysteinylated 2 (human)

description: A DNA-directed RNA polymerase II subunit RPB7 (human) that has been cysteinylated on the residue at the position equivalent to Cys-106 of the amino acid sequence represented by UniProtKB:P62487. UniProtKB:P62487, Cys-106, MOD:00765.


DnaJ homolog subfamily C member 15

A protein that is a translation product of the human DNAJC15 gene or a 1:1 ortholog thereof.


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

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


Mitral valve leaflet calcification

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


Cleft anterior mitral valve leaflet

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


Supramitral ring

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


Mitral annular calcification

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


Mitral chordae tendinae rupture

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


name: Short chordae tendineae of the mitral valve

description: Abnormally short chordae tendineae of the mitral valve.


mitral atresia disorder

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


name: Abnormal mitral valve annulus morphology

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


Myxomatous mitral valve degeneration

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


Mitral valve arcade

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


congenital mitral stenosis

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


name: Abnormal mitral valve leaflet morphology

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


Mitral valve calcification

description: Abnormal calcification of the mitral valve.


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

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


Parachute mitral valve

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


Dilatation of the mitral annulus

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


mitral valve stenosis

description: Narrowing of the left atrioventricular mitral orifice.


Abnormal mitral valve morphology

description: Any structural anomaly of the mitral valve.


double-orifice mitral valve

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


Thickened mitral valve cusp

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


mitral valve prolapse

description: A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia.


name: Elongated chordae tendinae of the mitral valve

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


name: tumor protein p53-inducible protein 11 isoform 1 (human)

description: A tumor protein p53-inducible protein 11 isoform 1 that is encoded in the genome of human.


tubular variant testicular seminoma

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


name: pseudoglandular variant testicular seminoma

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


cribriform variant testicular seminoma

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


name: ATP-binding cassette sub-family B member 10, mitochondrial methylated 1 (human)

description: An ATP-binding cassette sub-family B member 10, mitochondrial (human) that has been methylated on the residue at the position equivalent to Cys-100 of the amino acid sequence represented by UniProtKB:Q9NRK6. UniProtKB:Q9NRK6, Cys-100, MOD:00660.


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

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


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


name: pleckstrin homology domain-containing family B member 1 isoform 1 (human)

description: A pleckstrin homology domain-containing family B member 1 isoform 1 that is encoded in the genome of human.


name: serotransferrin N-glycosylated 35 (human)

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


uridine 2'-phosphate

A pyrimidine ribonucleoside 2'-monophosphate having uracil as the nucleobase


name: aryl hydrocarbon receptor deaminated 1 (human)

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


immunoglobulin heavy constant gamma 1

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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


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

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