Anti-lamin C antibody positivity

description: The presence of autoantibodies in the blood circulation that react against human lamin C.


Anti-vinculin antibody positivity

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

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against vinculin.


Anti-annexin A5 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin A5.


Bulging fontanelle

description: An outward curving of a fontanelle, which occurs when fluid builds up in the brain or the brain swells, causing increased pressure inside the skull.


3-4 toe cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the toes 3 and 4.


Triangular nail

description: Nail so wide as long with a distal part presenting an acute angle.


Distal tibiofibular synostosis

description: Fusion of the distal (i.e.., located away from the trunk) part of the tibia and fibula.


Abnormal metacarpal ossification

description: Any abnormal process of ossification of the metacarpal bones, which normally are each ossified from two centers: one for the body, and one for the head (metacarpal II,III,IV, and V) and one for the body and one for the base (metacarpal I). At the eighth to ninth week of fetal life, ossification commences in the middle of the body. At the third year the distal extremities of the metacarpals of the fingers and the base of the metacarpal of the thumb begin to ossify; they unite with the bodies at about the twentieth year.


Rib spur

description: A bony projection (spur, osteophyte) originating from a rib.


Crescent-shaped iliac bone

description: Deficient mineralization of the iliac wings, giving a paraglider/crescent shape to the iliac bone.


Abnormal ischium ossification

description: An abnormality of the formation and mineralization of ischial bones.


Femoral neck fracture

description: A partial or complete breakage of the neck of femur.


name: Papillary dermis eosinophilic hyaline material

description: Accumulation of eosinophilic hyaline material observed around the papillary dermis and the blood vessels located in it. The papillary dermis is the uppermost layer of the dermis. It intertwines with the rete ridges of the epidermis and is composed of fine and loosely arranged collagen fibers.


name: Pancreatic intraductal papillary mucinous neoplasm

description: Intraductal papillary mucinous neoplasm (IPMN) is an exocrine neoplasm of the pancreas consisting of epithelial cells growing within the pancreatic ducts (main pancreatic duct or its major branches) and producing mucin. IPMN is a mucin-producing pancreatic cystic tumor. IPMN contains epithelial cells that can create papillary projections.


Medium vessel vasculitis

description: A type of vasculitis (inflammation of blood vessel walls) that affects medium-sized blood vessels. By common usage, vasculitis predominantly refers to arterial disease. Medium-sized vasculitis is observed in diseases including polyarteritis nodosa, Kawasaki disease, and cutaneous polyarteritis nodosa.


name: Elevated muscle fiber laminin alpha 5 expression

description: A decreased amount of laminin alpha-5 in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue. Laminin subunit alpha-5 is a protein encoded by the LAMA5 gene.


Paravertebral mass

description: A swelling or enlargment localized next to the vertebral column. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


Phlebolith

description: A calcified structure that forms within a vein. The pathogenesis of phleboliths is thought to involve an organized thrombus produced when the peripheral blood flow slows. The thrombus calcifies, form- ing the core of the phlebolith. Then, the fibrinous com- ponent undergoes secondary calcification and becomes attached. Repetition of this process causes enlargement of the phlebolith.


Bladder rupture

description: A perforation in the wall of the urinary bladder. Bladder rupture, a relatively rare condition, is most commonly due to abdominal or pelvic trauma but may be spontaneous or iatrogenic in association with surgical or endoscopic procedures. In most cases, patients with bladder rupture have gross hematuria. Other symptoms of bladder rupture include pelvic pain, lower abdominal pain, and difficulty voiding.


Elevated myocardial iron load

description: Increased amount of iron in myocardial tissue.


name: Right ventricular regional wall motion abnormality

description: The occurrence of abnormal or absent contractility of a region of the heart muscle of the right ventricule. Conventional assessment of RWMA is based on visual interpretation of endocardial excursion and myocardial thickening from the echocardiogram videos.


Right ventricular regional akinesia

description: A region of the right ventricle exhibits absent contraction (akinesia) compared to the rest of the ventricle.


Right ventricular regional dyskinesia

description: A region of the right ventricle exhibits abnormal contraction (dyskinesia) compared to the rest of the ventricle, leading to outward bulging or ballooning during contraction or inadequate inward movement.


Right ventricular aneurysm

description: A localized, abnormal dilation or bulging of a portion of the right ventricular wall.


Glomerular immune-complex deposition

description: Accumulation of immune deposits, containing immunoglobulins, complement, and other proteins, at various intraglomerular locations. This can lead to glomerulonephritis, with the type of injury that results being dependent on four factors: the mechanism of the deposit formation, the site of deposit formation, the composition of the deposits and the amount of the deposits.


name: Glomerular PLA2R immune-complex deposition

description: Accumulation of immune deposits, containing auto-antibodies against the podocyte antigen M-type phospholipase A2 receptor (PLA2R) in intraglomerular locations.


Elevated urinary L-glycerate level

description: The amount of L-glycerate in the urine, normalized for urine concentration, is above the upper limit of normal.


Breast myxoma

description: A rare, benign mesenchymal tumor of the breast characterized histologically by stellate, round, and spindle-shaped cells with vesicular nuclei and scant cytoplasm that are scattered in the myxoid stroma.


Ovarian cystadenoma

description: A common, benign ovarian tumor that carries a good prognosis. The two most frequent types of cystadenomas are serous and mucinous cystadenomas whereas endometrioid and clear cell cystadenomas are rare.


name: Abnormal CSF N-acetylaspartic acid concentration

description: Any deviation from the normal concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).


name: Decreased CSF N-acetylaspartic acid concentration

description: Concentration of N-acetylaspartic acid in the cerebrospinal fluid below the lower limit of normal.


name: Elevated urinary mevalonate lactone level

description: The amount of mevalonate lactone in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Anti-von Willebrand factor antibody positivity

description: The presence of autoantibodies in the serum that react to von Willebrand factor (VWF).


Elevated natural killer cell count

description: The count of natural killer cells per volume of blood is above the upper limit of normal.


description: The presence of autoantibodies (immunoglobulins) in the serum that display a high degree of specificity for idiopathic inflammatory myopathy (myositis-specific autoantibodies (MSAs)). MSAs are clinically useful biomarkers to help the diagnosis of polymyositis/dermatomyositis (PM/DM). Many of these are also associated with a unique clinical subset of PM/DM, making them useful in predicting and monitoring certain clinical manifestations.


Abnormal serum osmolality

description: Any deviation from the normal range of the serum osmolality, defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea.


Low serum osmolality

description: Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is below the lower limit of normal.


High serum osmolality

description: Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is above the upper limit of normal.


Mitral opening snap

description: Opening snap is an additional sound heard in the diastole that is related to the opening of a stenotic but mobile mitral valve. It is described as an early diastolic, high-pitched sound, which is associated with opening of the mitral and/or tricuspid valve.


Mucus in stool

description: Abnormally increased amount of mucus in the feces. Mucus is a slippery aqueous secretion produced by mucous membranes including those of the intestines.


Elevated circulating CCL3 concentration

description: The concentration of C-C Motif Ligand 3 (CCL3) in the blood circulation is above the upper limit of normal.


Elevated circulating CCL4 concentration

description: The concentration of C-C Motif Ligand 4 (CCL4) in the blood circulation is above the upper limit of normal.


name: Elevated CSF 14-3-3 protein concentration

description: The concentration of 14-3-3 protein in the cerebrospinal fluid (CSF) is above the upper limit of normal.


name: Elevated CSF dihydrobiopterin concentration

description: Concentration of dihydrobiopterin in the cerebrospinal fluid (CSF) above the upper limit of normal.


Left atrial fibrosis

description: Atrial fibrosis is an hallmark of atrial structural remodelling, characterized by the aberrant activation, proliferation and differentiation of fibroblasts, and subsequent excessive synthesis and irregular deposition of extracellular matrix proteins.


name: Abnormal circulating atrial natriuretic peptide pro-hormone concentration

description: The concentration in the blood circulation of atrial natriuretic peptide pro-hormone or one of its processed fragments is outside of the range of normal.


name: Reduced circulating NT-proANP concentration

description: The concentration of NT-proANP in the blood circulation is below the lower limit of normal.


name: Elevated circulating 1-pyrroline-5-carboxylic acid acid concentration

description: The concentration of delta-1-pyrroline-5-carboxylate in the blood circulation is above the upper limit of normal.


name: Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity

description: Concentration or activity of delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDH; EC 1.5.1.12) below the lower limit of normal. P5CDH can be measured in multiple tissues including leukocytes and cultured fibroblasts. P5CDH is a mitochondrial matrix NAD(+)-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate.


name: Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration

description: The concentration of N-carbamyl-beta-aminoisobutyric acid in the blood circulation is above the upper limit of normal.


Low tissue ferrochelatase activity

description: Concentration or activity of Ferrochelatase (FECH; EC 4.99.1.1) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. FECH is the terminal enzyme of the heme biosynthetic pathway, and catalyzes the insertion of iron into protoporphyrin to form heme.


name: Elevated circulating heptacarboxylporphyrin concentration

description: The concentration of heptacarboxylporphyrin in the blood circulation is above the upper limit of normal.


Reduced breast milk zinc concentration

description: The concentration of zink in breast milk is below the lower limit of normal.


Elevated urinary bile acid level

description: The amount of bile acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Elevated urinary glyoxylic acid level

description: The amount of glyoxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. The conjugate base of glyoxylic acid is known as glyoxylate.


name: Elevated circulating 3-hydroxyanthranilic acid concentration

description: The concentration of 3-hydroxyanthranilic acid in the blood circulation is above the upper limit of normal.


name: Elevated circulating CXCL9 concentration

description: The concentration of chemokine (C-X-C motif) ligand 9 in the blood circulation is above the upper limit of normal.


Extracellular Vesicles

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

description: Bilayer membrane fragments present in the blood plasma that are released by different cell types upon activation or death. Extracellular vesicles are usually classified as either exosomes (formed by the membranes of intracellular compartments, 50-100 nm in diameter) and ectosomes (also called microparticles or microvesicles, formed from plasma membrane, 100-1000 nm in diameter).


Autophagosomes

description: An organelle with a double membrane that sequesters proteins and other organelles which may be targeted for degradation.


Pseudoautosomal Regions

description: The human Y chromosome is composed of two different parts: a pseudoautosomal region that is homologous to a region of the X chromosome and which is responsible for sex chromosome pairing and a Y-specific part that encodes the sex determining gene.  Genes within the pseudoautosomal region are not sex linked.


Cell Membrane

description: The semipermeable membrane that encloses the cytoplasm of a cell.


Cell Nucleolus

description: The region within a cell nucleus where ribosomal DNA is clustered, ribosomal RNA is synthesized and ribosomes are assembled.


Centrioles

description: One of two small cylindrical cell organelles composed of 9 triplet microtubules.


Centromere

description: The nonstaining primary constriction of a chromosome which is the point of attachment of the spindle fiber; provides the mechanism of chromosome movement during cell division; the centromere divides the chromosome into two arms, and its position is constant for a specific chromosome: near one end (acrocentric), near the center (metacentric), or between (submetacentric).


Chromatids

description: One of the two side by side replicas produced by chromosome replication in mitosis or meiosis. Subunit of a chromosome after replication and prior to anaphase of meiosis II or mitosis. At anaphase of meiosis II or mitosis when the centromeres divide and the sister chromatids separate each chromatid becomes a chromosome. (Biology-Text.com)


Chromosomes

description: A structure found in cells that is comprised of a strand of linearized double-stranded DNA plus proteins that package the DNA in a condensed coil form and regulate chromosomal function.


Chromosomes, Human

description: A structure found in the nucleus of human cells that is comprised of a strand of linearized double-stranded DNA plus proteins that package the DNA in a condensed coil form and regulate chromosomal function.


Chromosomes, Human, Pair 1

description: The designation for each member of the largest human autosomal chromosome pair. Chromosome 1 spans about 247 million nucleotide base pairs and represents about 8% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 10

description: The designation for each member of the tenth largest human autosomal chromosome pair. Chromosome 10 spans about 135 million base pairs and represents between 4 and 4.5% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 11

description: The designation for each member of the eleventh largest human autosomal chromosome pair. Chromosome 11 spans about 134.5 million base pairs and represents between 4 and 4.5% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 12

description: The designation for each member of the twelfth largest human autosomal chromosome pair. Chromosome 12 spans about 143 million base pairs and represents between 4 and 4.5% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 13

description: The designation for each member of the thirteenth largest human autosomal chromosome pair. Chromosome 13 spans about 113 million base pairs and represents between 3.5 and 4% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 14

description: The designation for each member of the fourteenth largest human autosomal chromosome pair. Chromosome 14 spans about 105 million base pairs and represents between 3 and 3.5% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 15

description: The designation for each member of the fifteenth largest human autosomal chromosome pair. Chromosome 15 spans about 106 million base pairs and represents between 3 and 3.5% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 16

description: The designation for each member of the sixteenth largest human autosomal chromosome pair. Chromosome 16 spans about 90 million base pairs and represents just under 3% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 17

description: The designation for each member of the seventeenth largest human autosomal chromosome pair. Chromosome 17 spans more than 81 million base pairs and represents between 2.5 and 3% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 18

description: The designation for each member of the eighteenth largest human autosomal chromosome pair. Chromosome 18 spans about 76 million base pairs and represents about 2.5% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 19

description: The designation for each member of the nineteenth largest human autosomal chromosome pair. Chromosome 19 spans more than 63 million base pairs and represents between 2 and 2.5% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 2

description: The designation for each member of the second largest human autosomal chromosome pair. Chromosome 2 spans more than 237 million base pairs and represents almost 8% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 20

description: The designation for each member of the third smallest human autosomal chromosome pair. Chromosome 20 spans around 63 million base pairs and represents between 2 and 2.5% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 21

description: The designation for each member of the second smallest human autosomal chromosome pair. Chromosome 21 spans around 47 million nucleotides and represents about 1.5% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 22

description: The designation for each member of the smallest human autosomal chromosome pair. Chromosome 22 spans about 49 million base pairs and represents between 1.5 and 2% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 3

description: The designation for each member of the third largest human autosomal chromosome pair. Chromosome 3 spans almost 200 million base pairs and represents about 6.5% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 4

description: The designation for each member of the fourth largest human autosomal chromosome pair. Chromosome 4 spans more than 186 million base pairs and represents between 6 and 6.5% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 5

description: The designation for each member of the fifth largest human autosomal chromosome pair. Chromosome 5 spans about 181 million base pairs and represents almost 6% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 6

description: The designation for each member of the sixth largest human autosomal chromosome pair. Chromosome 6 spans more than 170 million base pairs and represents between 5.5 and 6% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 7

description: The designation for each member of the seventh largest human autosomal chromosome pair. Chromosome 7 spans more than 158 million base pairs and represents between 5 and 5.5% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 8

description: The designation for each member of the eighth largest human autosomal chromosome pair. Chromosome 8 spans about 145 million base pairs and represents between 4.5 and 5.0% of the total DNA in normal diploid cells.


Chromosomes, Human, Pair 9

description: The designation for each member of the ninth largest human autosomal chromosome pair. Chromosome 9 spans about 145 million base pairs of nucleic acids and represents between 4 and 4.5% of the total DNA in normal diploid cells.


Cilia

description: An organelle that protrudes outward from the cell body. It consists of a specialized arrangement of 9 doublet microtubules in a ring with or without a core of 2 microtubules and is enclosed in a plasma membrane coat. Motile cilia contain the motor protein dynein.


Coated Pits, Cell-Membrane

description: Specialized depressions on the cell surface involved in receptor-mediated endocytosis; the visible proteinaceous layer on the cytosolic side of the depression provides the coated appearance.


Cytoplasm

description: That portion of the cell contained within the plasma membrane but excluding the nucleus.


Cytoskeleton

description: The protein scaffolding (the network of filaments microfilaments, microtubules, intermediate filaments, and their associated proteins) that gives shape, structure, and organization to the cytoplasm and a cell its shape.


Cytosol

description: A fluid cytoplasmic substance filling the interstices of the cytoskeleton.


Dendrites

description: A long, branching outgrowth or extension from a neuron, that carries electrical signals from synapses to the cell body; any structure that resembles a dendrite.


Desmosomes

description: Desmosomes are intercellular anchoring junctions that anchor intermediate filaments at membrane-associated plaques in adjoining cells.  Desmosomes assemble in response to cell-cell contact and raised levels of extracellular calcium. Sensitivity to calcium levels is lost as desmosomes mature.


Endoplasmic Reticulum

description: The endoplasmic reticulum is a network of tubular membranes within the cytoplasm of the cell, occurring either with a smooth surface (smooth endoplasmic reticulum) or studded with ribosomes (rough endoplasmic reticulum), involved in the transport of materials. (Infoplease Dictionary)


Golgi Apparatus

description: A stack of flattened vesicles located between the nucleus and the secretory pole or surface of a cell. Functions in posttranslational processing and sorting of proteins, receiving them from the rough endoplasmic reticulum and directing them to secretory vesicles, lysosomes, or the cell membrane. The movement of proteins takes place by transfer vesicles that bud off from the rough endoplasmic reticulum or golgi apparatus and fuse with the golgi, lysosomes or cell membrane.


Heterochromatin

description: A tightly packed area of chromatin that may function to protect chromosome integrity and regulate gene expression.


Intercellular Junctions

description: Cell junction is the specialized focal contact between cell-cell or cell-matrix in all tissues.  Cell junctions have various functions either communication, anchoring or organization.  There are specific protein associated with subtype of cell junctions and most of the junctions are too small to be resolved by light microscope.


Intermediate Filaments

description: A class of tough protein filaments (including keratin filaments, neurofilaments, desmin, and vimentin) that measure 8-10 nm in thickness and comprise part of the cytoskeleton of the cytoplasm of most eukaryotic cells; so named because they are intermediate in thickness between actin filaments and microtubules.


Intracellular Membranes

description: A thin pliable sheet separating organelles from the protoplasm.


Lysosomes

description: A class of morphologically heterogeneous cytoplasmic membrane-bound vesicle in animal and plant tissues characterized by their content of a wide variety of glycoprotein hydrolytic enzymes active at an acid pH and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured. Such rupture serves to digest exogenous material, such as bacteria, as well as effete organelles of the cells and is supposed to be under metabolic (hormonal) control.


Actin Cytoskeleton

description: The finest filamentous element of the cytoskeleton, having a diameter of about 5 nm and consisting primarily of actin.


Microtubules

description: Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. (from LocusLink)


Mitochondria

description: Semiautonomous, self-reproducing organelles that occur in the cytoplasm of all cells of most, but not all, eukaryotes. Mitochondria contain distinctive ribosomes, transfer RNAs, amino acyl t-RNA synthetases, and elongation and termination factors. Mitochondria depend upon genes within the nucleus for many essential messenger RNAs. Mitochondria consist of two sets of membranes, a smooth continuous outer coat and an inner membrane arranged in tubules or more often in folds that form platelike double membranes (cristae). Mitochondria are the principal energy source of the cell and contains the cytochrome enzymes of terminal electron transport and the enzymes of the citric acid cycle, fatty acid oxidation, and oxidative phosphorylation. Mitochondria are the sites of the reactions of oxidative phosphorylation, which result in the formation of ATP.


Nissl Bodies

description: A granular basophilic substance, which consists of granular endoplasmic reticulum and ribosomes, found in the cell bodies of neurons and dendrites.


Nuclear Envelope

description: The double-layer membrane structure enclosing the nucleus in eukaryotic cells. It separates the DNA of the cell from the cytosol. For exchange of material, for example, proteins and mRNA, it is punctured with numerous nuclear pores.


Phagosomes

description: A vesicle formed by the fusion of the plasma membrane around large particles during phagocytosis.


Endosomes

description: A membrane bound cytoplasmic compartment that drives molecular traffic between the plasma membrane and lysosome.


Ribosomes

description: Ribosomes are small organelles composed of ribosomal RNA (rRNA) and 80 some different proteins. rRNA is synthesized in the nucleolus and the ribosomal subunits are assembled there from rRNA and imported cytoplasmic made proteins. Once assembled, the subunits pass through the nuclear pores to the cytoplasm where they take part in protein synthesis. Some ribosomes are free in the cytoplasm and can be recruited to a polyribosomal structure when a messenger RNA (mRNA) strand is to be translated into a cytoplasmic protein. Other ribosomes are attached to the endoplasmic reticulum where the protein is formed within the interior to the endoplasmic reticulum. These proteins are destined for secretion, storage or incorporation into membranes.


Rod Cell Outer Segment

description: A portion of the retinal rod cell largely consisting of a stack of discs (membrane infoldings that are incompletely separated in cones) that are continually replenished near the inner segment and that are shed from the distal end and phagocytosed by the pigmented epithelium.


Sarcolemma

description: The cell membrane of a muscle cell. It is comprised of a plasma membrane coated with collagen fibers embedded in a layer of polysaccharides.


Sarcomeres

description: The basic unit of contractility in a muscle fiber.


Sarcoplasmic Reticulum

description: The endoplasmic reticulum of striated muscle, specialised for the sequestration of calcium ions that are released upon receipt of a signal relayed by the T tubules from the neuromuscular junction.


Sex Chromatin

description: The inactive, condensed X chromosome in a female somatic cell.


Sex Chromosomes

description: The X or Y chromosome in human beings that determines the sex of an individual. Females have two X chromosomes in diploid cells; males have an X and a Y chromosome. The sex chromosomes comprise the 23rd chromosome pair in a human karyotype.


Sperm Head

description: The anterior, often oval-shaped, part of a mature spermatozoon, which contains haploid male nuclear material.


Sperm Tail

description: The part of the sperm called the flagellum; it functions to propel the sperm towards the egg.


Synapses

description: A cell-cell junction between a neuron and another neuron or a cell in a target organ. At this interface, the presynaptic neuron can transmit chemical (neurotransmitter) or electical signals (nerve impulses) to the postsynaptic target.


Vacuoles

description: Any membrane-enclosed spaces or cavities within a cell.


Nuclear Matrix

description: A network of fibrillar structures within cell nuclei that may play a role in chromatin organization and the localization of proteins within the nucleus.


Telomere

description: A stretch of repetitive nucleotide sequences (TTAGGG repeats in humans) found at both ends of each chromatid arm that plays a role in chromosome stability during replication.


Gap Junctions

description: Intercellular connections comprised of complexes of connexin family proteins that permit the transfer of cytoplasmic ions and molecules between connected cells. Each cell contains a hemichannel made up of homo- or hetero-hexamers of connexins.


Presynaptic Terminals

description: An area at the end of an axon that contains neurotransmitters in synaptic vesicles.


Coated Vesicles

description: A cytoplasmic vesicle that is coated with proteins which stabilize its structure and facilitate targeting.


Endoplasmic Reticulum, Rough

description: Membrane organelle of eukaryotes that forms sheets and tubules. Contains the receptor for the signal receptor particle and binds ribosomes engaged in translating mRNA for secreted proteins and the majority of transmembrane proteins. Also a site of membrane lipid synthesis. The membrane is very similar to the nuclear outer membrane. The lumen contains a number of proteins that possess the C terminal signal KDEL.


Endoplasmic Reticulum, Smooth

description: An internal membrane structure of the eukaryotic cell. Biochemically similar to the rough endoplasmic reticulum, but lacks the ribosome binding function. Tends to be tubular rather than sheet like, may be separate from the rough endoplasmic reticulum or may be an extension of it. Abundant in cells concerned with lipid metabolism and proliferates in hepatocytes when animals are challenged with lipophilic drugs.


Tight Junctions

description: Found near the apical surface of cells in simple epithelia. Forms a sealing "gasket" around the cell by the fusion of adjacent cell membranes which encircle the apical cell surface like a belt or fence. Prevents fluid moving through the intercellular gap and the lateral diffusion of intrinsic membrane proteins between apical and basolateral domains of the plasma membrane as well as occludes the movement of solute molecules between cells. Various proteins components of this junction have been identified, but how they are linked to form the ultrastructure of the junction is not known.


Glycocalyx

description: An extracellular coating of polymeric sugars or glycoproteins.


trans-Golgi Network

description: A network of membrane components where vesicles bud off the Golgi apparatus to bring proteins, membranes and other components to the plasma membrane, secretory vesicles and endosomes.


Caveolae

description: A small pocket, vesicle, cave, or recess communicating with the outside of a cell and extending inward, indenting the cytoplasm and the cell membrane. Such caveolae may be pinched off to form free vesicles within the cytoplasm. They are considered to be sites of uptake of materials into the cell, expulsion of materials from the cell, or sites of addition or removal of cell (unit) membrane to or from the cell surface.


Cell-Matrix Junctions

description: Any cellular process in which a cell attaches to the extracellular matrix via adhesion molecules.


Focal Adhesions

description: A cellular junction where cellular transmembrane integrin receptors bind to extracellular matrix proteins.


Hemidesmosomes

description: Half desmosomes that occur on the basal surface of the stratum basalis of stratified squamous epithelium.


Chromosome Structures

description: The 3-D organization of histones and other proteins on chromosomal DNA in the nucleus and allow for its form and function during cellular growth and division.


Adherens Junctions

description: Anchoring junctions typically are observed as "spot welds" between cells in many types of epithelia. Detail structures can be seen only with EM.


Nuclear Pore

description: An octagonal opening, about 70 nm across, where the inner and outer membranes of the nuclear envelope are continuous.


Euchromatin

description: Euchromatin. The parts of chromosomes that, during interphase, are uncoiled dispersed threads and not stained by ordinary dyes; metabolically active, in contrast to the inert heterochromatin.


Cell Surface Extensions

description: Cell Surface Extension is a coordinated cellular process involving the cell membrane, cytoskeleton, subcortical elements, and other subcellular structures that generates a localized outgrowth of a cell.


Cellular Structures

description: The components of the cell and how they are arranged.


Secretory Vesicles

description: A vesicle that transports molecules that are targeted for cellular excretion.


Transport Vesicles

description: A vesicle that can move between organelles to deliver molecules to target locations.


Nuclear Lamina

description: The nuclear lamina is a proteinaceous filamentous meshwork of lamin proteins interacting with integral proteins of the inner nuclear membrane, including emerin, and is thought to play a role in nuclear stability, chromatin structure, and gene expression. Lamins are highly conserved in evolution and members of the intermediate filament protein family. Mammalian lamins are classified into two major types, A and B, with two subspecies of each: lamins A and C for the A type and B1 and B2 for the B type. Lamins A and C arise from one gene by alternative splicing. Pre-lamin A contains a carboxyl CAAX box that can be modified by farnesylation. During mitosis, the lamina meshwork is reversibly disassembled in parallel with phosphorylation of the lamins.


Chromosomes, Human, X

description: The larger of the two human sex chromosomes. It is usually present singly in males and doubly in females.


Chromosomes, Human, Y

description: The smaller of the two human sex chromosome. Its presence usually determines the development of a fetus as male, while its absence usually determines the development of a fetus as female.


Mitochondrial Membranes

description: The double membrane structure surrounding the mitochondrion and separating it from the cell cytoplasm.  The two membranes are separated by an intermembrane space. The electron transport chain resides in the inner mitochondrial membrane.


Electrical Synapses

description: A synapse in which electrical connection is made directly through the cytoplasm, via gap junctions.


RING Finger Domains

description: The RING finger is a specialized type of Zn-finger consisting of 40 to 60 residues, which has the consensus sequence CX2CX(9-39)CX(1-3)HX(2-3)C/HX2CX(4-48)CX2C, that binds two atoms of zinc, and is involved in mediating protein-protein interactions. The RING domain mediates the interaction with the appropriate E2 enzyme. Unlike HECT E3 enzymes that form a thiol-ester with ubiquitin, RING fingers likely mediate ubiquitination by facilitating the direct transfer of ubiquitin from E2 enzyme to lysine residues on the target substrate.


Cell-Derived Microparticles

description: A small, membrane-bound vesicle between 100 nm to 1000 nm in size found in the circulatory system. These vesicles are plasma membrane fragments shed from cells. The protein composition is similar to that of the cell that shed the particle.


Exosomes

description: A secretory vesicle between 30 and 90 nm in diameter that can play a role in receptor recycling, plasma membrane protein shedding, and the secretion of proteins and RNA.


Multivesicular Bodies

description: A membrane-bound vesicle that encompasses several smaller membrane-bound vesicles.


Stereocilia

description: A non-motile microvillus-like structure found in certain epithelial tissues. It is comprised of plasma membrane that is supported by longitudinal actin filaments.


Spindle Pole Bodies

description: The spindle pole body (SPB) is the microtubule organizing center (MTOC) in the yeast Saccharomyces that plays a pivotal role in such diverse processes as mitosis, budding, and mating. (from Cell. 1997;89:1077-86)


Basal Bodies

description: A centriole-containing organelle that serves as the base and nucleation site for microtubules that form cilia or flagella.


Lipid Droplets

description: A detectable aggregation of lipids or membrane fragments in the cytoplasm.


disease

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

description: A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism.


adrenocortical insufficiency

description: An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).


name: inherited bleeding disorder, platelet-type


name: classic complement early component deficiency

description: A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response.


nocturnal enuresis

description: Urination during sleep.


hereditary hypophosphatemic rickets

description: Hypophosphatemic rickets is a group of genetic diseases characterized by hypophosphatemia, rickets, and normal serum levels of calcium.


name: isolated congenital growth hormone deficiency

description: Insufficient production of growth hormone.


name: microcephalic osteodysplastic primordial dwarfism


isolated microphthalmia

description: A microphthalmia that is not part of a larger syndrome.


name: microvascular complications of diabetes, susceptibility


acrocephalopolysyndactyly

description: A common presentation of craniosynostosis and polysyndactyly.


pelvic organ prolapse

description: Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence.


polymicrogyria

description: A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.


precocious puberty

description: Unusually early sexual maturity.


name: progressive external ophthalmoplegia with mitochondrial DNA deletions


name: anemia, hypochromic microcytic with iron overload


auriculocondylar syndrome

description: Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.


bifid nose

description: Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.


Chiari malformation

description: A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.


name: congenital heart defects, multiple types


geleophysic dysplasia

description: Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').


giant axonal neuropathy

description: A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.


glutaric aciduria

description: The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: immunodeficiency-centromeric instability-facial anomalies syndrome

description: The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.


name: keratosis follicularis spinulosa decalvans

description: Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.


metaphyseal chondrodysplasia

description: An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.


mosaic variegated aneuploidy syndrome

description: Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.


name: pregnancy loss, recurrent, susceptibility


polyposis

description: A condition characterized by the presence of numerous polyps.


name: pulmonary fibrosis and/or bone marrow failure, telomere-related


transposition of the great arteries

description: A congenital cardiac defect in which two heart vessels are reversed (transposed).


triglyceride storage disease

description: An inherited metabolic disease that is has its basis in the disruption of sequestering of triglyceride.


trigonocephaly

description: Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.


developmental dysplasia of the hip

description: A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation.


bone marrow failure syndrome

description: A familial or acquired bone marrow failure syndrome.


name: autoimmune thyroid disease, susceptibility to


name: Huntington disease and related disorders

description: A grouping for Huntington disease and similar diseases.


microphthalmia, isolated, with coloboma

description: A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma.


name: muscular dystrophy-dystroglycanopathy, type A

description: A rare autosomal recessive inherited muscular dystrophy. It presents with generalized hypotonia, muscle weakness, mental retardation, developmental delays, and brain and eye abnormalities.


name: muscular dystrophy-dystroglycanopathy, type B


name: muscular dystrophy-dystroglycanopathy, type C


Neu-Laxova syndrome

description: Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterized by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.


name: congenital myasthenic syndrome with tubular aggregates

description: A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.


GLUT1 deficiency syndrome

description: An epileptic encephalopathy resulting from impaired glucose transport into the brain.


ventricular fibrillation

description: A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)


cortisone reductase deficiency

description: A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility.


Zimmermann-Laband syndrome

description: Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.


name: microcephaly, short stature, and impaired glucose metabolism 1


name: prenatal-onset spinal muscular atrophy with congenital bone fractures


name: striatal degeneration, autosomal dominant

description: An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity.


hypercalcemia, infantile

description: A hypercalcemia disease that occurs between 28 days to one year of life.


name: autoimmune disease, multisystem, infantile-onset


seminal vesicle acute gonorrhea

description: Acute form of gonococcal seminal vesiculitis.


name: acquired carbohydrate metabolism disease

description: An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism.


human monocytic ehrlichiosis

description: A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages.


Indian tick typhus

description: An infectious disease caused by infection with rickettsia conorii subsp. coronorii.


Israeli tick typhus

description: An infectious disease caused by infection with rickettsia conorii subsp. israelensis.


Flinders island spotted fever

description: A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy.


Japanese spotted fever

description: A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities.


Rickettsia parkeri spotted fever

description: A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash.


oropharyngeal anthrax

description: A anthrax infection that involves the oropharynx.


adiaspiromycosis

description: Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens).


invasive aspergillosis

description: An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage.


Keshan disease

description: A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus.


tinea barbae

description: A dermatophytosis that involves the beard.


ectothrix infectious disease

description: A dermatophyte infection of the hair that infects the hair surface.


endothrix infectious disease

description: A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell.


tinea imbricata

description: A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition.


dengue shock syndrome

description: A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth.


secretory diarrhea

description: Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.


osmotic diarrheal disease

description: A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption.


name: diarrheal disease secondary to altered bowel motility

description: A diarrhea that results from either increased or decreased motility in the bowel.


inflammatory diarrhea

description: An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa.


piedra

description: Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, mustache and genital areas and is caused by Trichosporon species.


cutaneous mycosis

description: A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis.


subcutaneous mycosis

description: A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis.


systemic mycosis

description: A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system.


acute diarrhea

description: Acute form of diarrhea.


adenoiditis

description: An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil.


otomycosis

description: Fungus infection of the external ear, usually by aspergillus species


laryngotracheitis

description: An inflammation of both larynx and trachea.


aspiration pneumonia

description: A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract.


pulmonary aspergilloma

description: A aspergillosis that involves the lung.


lower respiratory tract disorder

description: A disease involving the lower respiratory tract.


tuberculous salpingitis

description: An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube.


Kunjin virus infectous disease

description: A West Nile encephalitis that results in infection located in brain, has material basis in Kunjin virus, a subtype of West Nile Virus, which is transmitted by Culex annulirostris mosquito bite. The infection has symptom fever, has symptom rigor, has symptom headache, has symptom confusion, and has symptom lethargy.


Powassan encephalitis

description: A disease caused by infection with Powassan virus.


Whitewater Arroyo hemorrhagic fever

description: A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations.


name: Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type


name: Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type


Epstein-Barr virus hepatitis

description: A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice.


primary amebic meningoencephalitis

description: A infectious disease involving the Naegleria fowleri.


granulomatous amebic encephalitis

description: Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised people and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors.


philophthalmiasis

description: A disease caused by infection with Philophthalmus.


coenurosis

description: A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs.


mesocestoidiasis

description: An disease or disorder caused by infection with Mesocestoides.


acanthocephaliasis

description: An disease or disorder caused by infection with Acanthocephala.


baylisascariasis

description: An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses.


dioctophymiasis

description: A disease caused by infection with Dioctophyme renale.


thelaziasis

description: A disease caused by infection with Thelazia.


ophthalmomyiasis

description: An myiasis caused by infection with Oestrus ovis.


basidiobolomycosis

description: A disease caused by infection with Basidiobolus.


penicilliosis

description: A disease caused by infection with Talaromyces marneffei.


trichosporonosis

description: Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs.


name: parasitic Ichthyosporea infectious disease

description: A disease caused by infection with Ichthyosporea.


primary systemic mycosis

description: A systemic mycosis that arises from infection in an immunologically normal host.


aniseikonia

description: A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other.


Alkhurma hemorrhagic fever

description: A disease caused by infection with Alkhumra hemorrhagic fever virus.


hypophosphatemia

description: Lower than normal levels of phosphates in the circulating blood.


commensal bacterial infectious disease

description: A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder.


name: opportunistic bacterial infectious disease


glandular tularemia

description: A tularemia that involves the lymph node.


typhoidal tularemia

description: A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss.


Buruli ulcer disease

description: A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers.


hyperphosphatemia

description: Abnormally high level of phosphate in the blood.


endemic typhus

description: A bacterial infection caused by Rickettsia typhi.


Rickettsia helvetica spotted fever

description: A disease caused by infection with Rickettsia helvetica.


sennetsu fever

description: A disease caused by infection with Neorickettsia sennetsu.


early congenital syphilis

description: A congenital syphilis that is manifested between 0 and 2 years old.


multinodular goiter

description: Nodular goiter characterized by more than one discrete tissue mass.


parenchymatous neurosyphilis

description: A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has symptom irritability, has symptom difficulty concentrating, has symptom deterioration of memory, has symptom defective judgment, has symptom headaches, has symptom insomnia, has symptom fatigue, and has symptom lethargy.


meningovascular neurosyphilis

description: A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries.


exanthema subitum

description: An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk.


spinal polio

description: A paralytic poliomyelitis in which the site of paralysis is the spinal cord.


bulbospinal polio

description: A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract.


paralytic poliomyelitis

description: A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis.


O'nyong'nyong fever

description: An disease or disorder caused by infection with O'nyong-nyong virus.


Barmah forest virus disease

description: A disease caused by infection with Barmah Forest virus.


Ross river fever

description: A disease caused by infection with Ross River virus.


Oropouche fever

description: A disease caused by infection with Oropouche virus.


name: Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type


disorder of methionine catabolism

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


Ullrich congenital muscular dystrophy

description: Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.


spondylocostal dysostosis

description: Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital).


gummatous syphilis

description: A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ.


primary congenital glaucoma

description: Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.


taeniasis

description: A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea.


extrapulmonary tuberculosis

description: A tuberculosis that occurs at body sites other than the lung.


abdominal tuberculosis

description: An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas.


oral cavity carcinoma in situ

description: A in situ carcinoma that involves the oral cavity.


pharynx carcinoma in situ

description: Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions.


gall bladder carcinoma in situ

description: A carcinoma in situ involving a gall bladder.


bile duct carcinoma in situ

description: A carcinoma in situ involving a bile duct.


bronchus carcinoma in situ

description: A carcinoma in situ involving a bronchus.


respiratory system cancer

description: A malignant neoplasm involving the respiratory system


malignant Leydig cell tumor

description: A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course.


malignant Sertoli cell tumor

description: A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site.


malignant Sertoli-Leydig cell tumor

description: A malignant form of Sertoli-leydig cell tumor.


paranasal sinus carcinoma

description: A malignant epithelial neoplasm arising in the paranasal sinus.


name: infiltrating renal pelvis transitional cell carcinoma

description: A infiltrating urothelial carcinoma that involves the renal pelvis.


respiratory system benign neoplasm

description: A benign neoplasm that involves the respiratory system.


benign reproductive system neoplasm

description: A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor.


bladder benign neoplasm

description: A benign abnormal growth of the cells that comprise the bladder.


benign digestive system neoplasm

description: A non-metastasizing neoplasm arising from any part of the digestive system.


name: digestive system neuroendocrine tumor, grade 1/2

description: A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas.


hypochromic microcytic anemia

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


vitelliform macular dystrophy

description: A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision.


partial fetal alcohol syndrome

description: A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure.


alcohol-related birth defect

description: A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy.


spastic cerebral palsy

description: A form of cerebral palsy wherein spasticity is the exclusive impairment present.


ataxic cerebral palsy

description: A form of cerebral palsy caused by damage to cerebellar structures.


mixed cerebral palsy

description: A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy.


small cell carcinoma

description: A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early.


anal canal cancer

description: A malignant neoplasm involving the anal canal


name: malignant pleural solitary fibrous tumor

description: A malignant form of pleural solitary fibrous tumor.


fetal alcohol spectrum disorder

description: A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues.


chorioamnionitis

description: A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion.


funisitis

description: An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid.


electroclinical syndrome

description: An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.


name: neonatal period electroclinical syndrome

description: An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.


infancy electroclinical syndrome

description: An electroclinical syndrome with onset in infancy occurring between birth and one year of age.


childhood electroclinical syndrome

description: A electroclinical syndrome that occurs during childhood.


description: An electroclinical syndrome with onset in adolescence and adulthood.


inborn serine deficiency

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


inborn vitamin B12 deficiency

description: Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement.


X-linked disease

description: X-linked form of disease.


autosomal dominant disease

description: Autosomal dominant form of disease.


Y-linked disease

description: Y-linked form of disease.


autosomal genetic disease

description: A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes.


name: mature T-cell and NK-cell non-Hodgkin lymphoma

description: This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma.


lymphoplasmacytic lymphoma

description: A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein.


cerebellar ataxia

description: A neurological syndrome characterized by clumsy and uncoordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways.


metabolic acidosis

description: Increased acidity in the blood secondary to acid base imbalance. Causes include diabetes, kidney failure and shock.


name: autosomal dominant polycystic liver disease

description: An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver.


paraganglioma

description: A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases.


name: secondary progressive multiple sclerosis

description: A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase.


primary progressive multiple sclerosis

description: A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous.


name: progressive relapsing multiple sclerosis

description: A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset.


short QT syndrome

description: A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified


cone dystrophy

description: An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.


cerebral creatine deficiency syndrome

description: Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency.


classical glioblastoma

description: A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification.


proneural glioblastoma

description: A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications.


mesenchymal glioblastoma

description: A molecular subtype of glioblastoma characterized by the presence of NF1 mutations.


neural glioblastoma

description: A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5.


eye adnexa disorder

description: A disease involving the ocular adnexa.


Ochoa syndrome

description: Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.


atrioventricular block

description: A heart block that is initiated in the atrioventricular node.


first-degree atrioventricular block

description: A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds.


second-degree atrioventricular block

description: Intermittent failure of atrial electrical impulse conduction to the ventricles.


third-degree atrioventricular block

description: A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC)


sinoatrial node disorder

description: A disease involving the sinoatrial node.


endocardium disorder

description: A disease involving the endocardium.


tricuspid valve disorder

description: A disease involving the tricuspid valve.


arterial disorder

description: An impairment of the structure or function of the blood vessels which carry blood away from the heart.


pericardium disorder

description: A disease involving the pericardium.


generalized dystonia

description: A type of dystonia that affects all or most of the body.


focal dystonia

description: A dystonia that is localized to a specific part of the body.


multifocal dystonia

description: A dystonia that involves two or more unrelated body parts.


segmental dystonia

description: A dystonia that affects two or more adjacent parts of the body.


anismus

description: A focal dystonia of the pelvic floor muscles during attempted defecation.


cervical dystonia

description: Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery.


focal hand dystonia

description: A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.


oculogyric crisis

description: A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes.


spasmodic dystonia

description: A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.


craniofacial dystonia

description: A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.


hemidystonia

description: A multifocal dystonia that involves the arm and leg on the same side of the body.


periampullary adenoma

description: A adenoma that involves the periampullary region of duodenum.


diabetic encephalopathy

description: A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.


glomerulosclerosis

description: A hardening of the kidney glomerulus caused by scarring of the blood vessels.


limb ischemia

description: A ischemia that involves the limb.


chronic venous insufficiency

description: Chronic form of venous insufficiency (disease).


renal fibrosis

description: A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis.


oppositional defiant disorder

description: A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors.


hemorrhagic cystitis

description: Inflammation of the bladder resulting in bloody urine.


pyometritis

description: Inflammation of uterine musculature associated with pus in the uterine cavity.


name: arteritic anterior ischemic optic neuropathy

description: An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis)


name: non-arteritic anterior ischemic optic neuropathy

description: An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.


tongue squamous cell carcinoma

description: A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis.


villous adenoma

description: An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina.


lung adenocarcinoma in situ

description: A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion.


name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia

description: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.


syndromic intellectual disability

description: A intellectual disability that is part of a larger syndrome.


non-syndromic intellectual disability

description: An intellectual disability that is not part of a larger syndrome.


synucleinopathy

description: A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibers or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ]


bone ameloblastoma

description: A ameloblastoma that involves the bone tissue.


bone squamous cell carcinoma

description: A squamous cell carcinoma that involves the bone tissue.


bone chondrosarcoma

description: A chondrosarcoma (disease) that involves the bone tissue.


phalanx chondroma

description: A chondroma that involves the phalanx.


brain stem medulloblastoma

description: A medulloblastoma that involves the brainstem.


sacrum chordoma

description: A chordoma (disease) that involves the fused sacrum.


corpus callosum oligodendroglioma

description: A oligodendroglioma that involves the corpus callosum.


parietal lobe ependymal tumor

description: An ependymal tumor affecting the parietal lobe of the brain.


salivary gland carcinoma

description: A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma.


mixed extragonadal germ cell cancer

description: A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle.


cecum villous adenoma

description: A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features.


colon adenoma

description: An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.


rectum adenoma

description: An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.


bronchus mucoepidermoid carcinoma

description: A mucoepidermoid carcinoma that involves the bronchus.


name: lung combined type small cell adenocarcinoma

description: A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin.


trachea mucoepidermoid carcinoma

description: A mucoepidermoid carcinoma that involves the trachea.


pharyngeal squamous cell carcinoma

description: A squamous cell carcinoma that arises from the pharynx.


striated muscle rhabdoid tumor

description: A rhabdoid tumor that involves the striated muscle tissue.


name: small intestinal neuroendocrine tumor G1

description: A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.


jejunal adenocarcinoma

description: A adenocarcinoma that involves the jejunum.


ovarian melanoma

description: A melanoma (disease) that involves the ovary.


mucosal melanoma

description: A melanoma that arises from a mucosal site.


name: sublingual gland adenoid cystic carcinoma

description: A adenoid cystic carcinoma that involves the sublingual gland.


ovarian clear cell cancer

description: An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells.


cervical neuroblastoma

description: A relatively uncommon neuroblastoma that is found in the neck.


extra-adrenal sympathetic paraganglioma

description: A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas.


retroperitoneal neuroblastoma

description: A neuroblastoma that involves the retroperitoneal space.


breast lobular carcinoma

description: An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal.


uterine corpus endometrial carcinoma

description: A endometrial carcinoma (disease) that involves the body of uterus.


endocervical adenocarcinoma

description: An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei.


name: GRID2-related autosomal dominant spinocerebellar ataxia


infective endocarditis

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


name: autoimmune disorder of central nervous system

description: A hypersensitivity reaction type II disease that involves the central nervous system.


autoimmune disorder of endocrine system

description: A hypersensitivity reaction type II disease that involves the endocrine system.


name: recombinase activating gene 1 deficiency

description: A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.


name: recombinase activating gene 2 deficiency

description: A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.


congenital anemia

description: Anemia, the cause of which is present at birth.


B cell linker protein deficiency

description: A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.


autoimmune disorder of exocrine system

description: A hypersensitivity reaction type II disease that involves the exocrine system.


name: autoimmune disease of ear, nose and throat

description: An autoimmune form of otorhinolaryngologic disease.


name: autoimmune disorder of gastrointestinal tract

description: A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system.


name: autoimmune disorder of musculoskeletal system

description: A hypersensitivity reaction type II disease that involves the musculoskeletal system.


name: autoimmune disorder of peripheral nervous system

description: A hypersensitivity reaction type II disease that involves the peripheral nervous system.


intrinsic cardiomyopathy

description: A cardiomyopathy that is due to abnormalities in heart muscle cells.


specific developmental disorder

description: A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination.


pervasive developmental disorder

description: A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.


sexual and gender identity disorders

description: A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle.


paraphilic disorder

description: Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V)


Munchausen by proxy

description: A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.


aphasia

description: A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language.


writing disorder

description: A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition.


nosophobia

description: A specific phobia that involves an irrational fear of contracting a disease.


autoimmune disorder of blood

description: A hypersensitivity reaction type II disease that involves the blood.


name: autoimmune disorder of cardiovascular system

description: A hypersensitivity reaction type II disease that involves the cardiovascular system.


hypersensitivity reaction disease

description: An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system.


name: primary cutaneous T-cell non-Hodgkin lymphoma

description: A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma.


name: familial juvenile hyperuricemic nephropathy


marantic endocarditis

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


pre-malignant neoplasm

description: A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer.


lymphatic system cancer

description: A malignant neoplasm involving the lymphatic part of lymphoid system


name: progesterone-receptor positive breast cancer


name: progesterone-receptor negative breast cancer


Her2-receptor negative breast cancer

description: A breast adenocarcinoma that is negative for the expression of the HER2 receptor.


breast benign neoplasm

description: A non-metastasizing neoplasm arising from the breast parenchyma.


immune system cancer

description: A malignant neoplasm involving the immune system


name: benign female reproductive system neoplasm

description: A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor.


name: benign male reproductive system neoplasm

description: A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor.


vestibular gland benign neoplasm

description: A benign neoplasm that involves the vestibular gland.


benign endocrine neoplasm

description: A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma.


name: central nervous system organ benign neoplasm

description: A benign neoplasm that involves the central nervous system.


cardiovascular organ benign neoplasm

description: A benign neoplasm that involves the cardiovascular system.


immune system organ benign neoplasm

description: A benign neoplasm that involves the immune organ.


bone benign neoplasm

description: A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites.


uterine benign neoplasm

description: A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp.


sensory organ benign neoplasm

description: A benign neoplasm that involves the sense organ.


thoracic benign neoplasm

description: A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma.


musculoskeletal system benign neoplasm

description: A benign neoplasm that involves the musculoskeletal system.


musculoskeletal system cancer

description: A malignant neoplasm involving the musculoskeletal system


benign glioma

description: A form of glioma without malignant characteristics.


cartilage cancer

description: A cancer involving a cartilage tissue.


name: central nervous system primitive neuroectodermal neoplasm

description: A neuroectodermal tumor that involves the central nervous system.


vulvar benign neoplasm

description: A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma.


cervical benign neoplasm

description: A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma.


fallopian tube benign neoplasm

description: A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma.


ovarian benign neoplasm

description: A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma.


benign vaginal neoplasm

description: A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus.


nervous system benign neoplasm

description: Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas).


sensory system cancer

description: A malignant neoplasm involving the sensory system


peritoneal benign neoplasm

description: A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis.


integumentary system benign neoplasm

description: A benign neoplasm that involves the integumental system.


integumentary system cancer

description: A malignant neoplasm involving the integumental system