Focal pancreatic islet hyperplasia

description: Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.


name: Decreased circulating methylcobalamin concentration

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

description: The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12.


Abnormal total iron binding capacity

description: Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added.


Spastic paraplegia

description: Spasticity and weakness of the leg and hip muscles.


name: Recurrent loss of toenails and fingernails

description: Repeated loss, or shedding, of the nails of the fingers and toes.


Renal neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the kidney.


name: Absent epiphyses of the proximal phalanges of the hand


Abnormal rectum morphology

description: An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.


Irregularly spaced teeth

description: Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.


acroosteolysis

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

description: A condition that is characterized by degeneration of the distal phalanges.


Bipartite patella

description: A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.


name: Small epiphysis of the distal phalanx of the 2nd finger

description: Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.


name: Partial duplication of the proximal phalanx of the 4th toe


Elevated urinary catecholamine level

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


Rectal duplication

description: A developmental anomaly characterized by an additional rectum that is typically lined with intestinal mucosa with one or more cell types of the gastrointestinal tract overlying submucosa and smooth muscle layer.


name: Interlobular vein intima/media amyloidosis

description: Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy


Abnormal pharynx physiology

description: A functional anomaly of the pharynx.


name: Anti-complement component C1q antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q.


name: Fragmentation of the epiphysis of the proximal phalanx of the 4th finger

description: Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger.


Porphyrinuria

description: Abnormally increased excretion of porphyrins in the urine.


name: Amplification of interpersonal communication

description: An increase in the tendency of a person to share information or emotions compared to that person's previous norms.


name: Focal aware motor seizure with negative myoclonus

description: A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure.


Abnormal circulating iron concentration

description: The concentration of iron in the blood circulation is outside the limits of normal.


Abnormal hepatic echogenicity

description: Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).


Curved phalanges of the 5th finger

description: Curved phalanges of the 5th (little) finger.


Functional abnormality of the bladder

description: Dysfunction of the urinary bladder.


name: Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection


EMG: myotonic runs

description: Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).


Caudal interpedicular narrowing

description: Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine.


Limited wrist movement

description: An abnormal limitation of the mobility of the wrist.


name: Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT

description: A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases.


Abnormal hepatocyte morphology

description: A structural anomaly of the hepatocyte, which is the main cell type that makes up the liver perncyhma. Hepatocytes are usually binucleated and appear as sheets in the liver tissue.


cystinuria

description: Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones.


Pulmonary pseudocavity

description: A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia.


Colonic varices

description: The presence of varices (enlarged and convoluted blood vessels) in the colon.


Hypoplastic pubic ramus

description: Underdevelopment of a ramus (branch) of the pubic bone.


Indeterminate ventricular axis

description: A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection.


name: Abnormality of the epiphysis of the proximal phalanx of the 5th toe


Black pigment gallstones

description: A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.


Short distal phalanx of finger

description: Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.


Bowing of the arm

description: A bending or abnormal curvature affecting a long bone of the arm.


Adrenal hyperplasia

description: Enlargement of the adrenal gland.


Drug-induced anaphylaxis

description: A form of anaphylaxis that is triggered by intake of drugs or medications.


name: Absent epiphysis of the middle phalanx of the 2nd toe


Proximal upper limb amyotrophy

description: Muscular atrophy affecting proximally located muscles of the arms.


Perihilar segmental glomerulosclerosis

description: Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule.


hemimegalencephaly

description: Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy.


Hypocapnia in cord blood

description: Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.


Streaky metaphyseal sclerosis

description: The presence of streaks (bands) of abnormally increased density of metaphyseal bone.


Abnormal B cell morphology

description: A structural abnormality of B cells.


name: Sclerosis of the distal phalanx of the 5th finger


name: Fractured epiphysis of fourth metacarpal bone

description: A partial or complete breakage of the epiphysis of fourth metacarpal bone.


camptodactyly of fingers

description: Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.


Seminal vesicle hypoplasia

description: A congenital anomaly characterized by underdevelopment of one or both seminal vesicles, which are the two small glands that store and produce the majority of the fluid that makes up semen.


name: Multiple pulmonary interstitial hyalinized nodules

description: Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin.


Glomerular karyhorrhectic debris

description: Apoptotic, pyknotic, and fragmented nuclei within the glomerulus.


coronary aneurysm

description: Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease.


Noncompaction cardiomyopathy

description: A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.


Tubularization of Bowman capsule

description: The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus.


Serous pericardial effusion

description: Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac.


Abnormal palmar dermatoglyphics

description: An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.


name: Prolonged bleeding following circumcision

description: Bleeding that persists for a longer than usual time following circumcision.


Bracket epiphyses of the 2nd finger

description: An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


name: Decreased urine guanidinoacetic acid level

description: The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is below the lower limit of normal.


name: Decreased attenuation pattern on pulmonary HRCT

description: Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography.


name: Increased proteinogenic amino acid level in urine

description: An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.


Erythematous papule

description: A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.


name: Abnormal ventricular myocardium morphology

description: A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle.


Abnormal parotid gland morphology

description: Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.


Fractured middle phalanx of manus

description: A partial or complete breakage of the middle phalanx of manus.


name: Aplasia/Hypoplasia of the distal phalanx of the 5th finger


Thumb contracture

description: Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.


name: Fibrotic non-specific interstitial pneumonia

description: A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation.


Boot-shaped cardiac silhouette

description: An abnormal form of the heart seen upon chest radiography in which the heart displays an upturned apex and slight concave pulmonary artery segment. This configuration is said to resemble a boot.


Congenital contracture

description: One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.


name: Elevated circulating L-alloisoleucine concentration

description: Abnormally increased concentration of L-alloisoleucine in the blood circulation.


Pseudoepiphysis of the thumb

description: A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.


name: Osteolytic defects of the proximal phalanx of the 5th finger

description: Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger.


palmoplantar keratosis

description: A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis.


Abnormality of the tarsal bones

description: An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.


Small superior frontal cortex

description: Reduced size of the superior frontal portion of the cerebral cortex.


Deep neck abscess

description: An abscess (i.e., a circumscribed area of pus or necrotic debris) localized in the area surrounded by the deep fascia of the neck including the pharynx, larynx, trachea, upper esophagus, thyroid, and parathyroid glands. Infections of pharyngeal, tonsillar, and laryngeal origin affect this space, which includes the parapharyngeal and retropharyngeal spaces.


Abnormal diaphysis morphology

description: An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.


Intestinal fistula

description: An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.


Torn meniscus

description: A tear in the cartilaginous pad (meniscus) of the knee.


Podocyte microvillous transformation

description: Cytoplasmic projections into the urinary space from the luminal side of the podocyte.


Reduced CSF methionine concentration

description: Concentration of methionine in the cerebrospinal fluid below the lower limit of normal.


Frontal cortical atrophy

description: Atrophy of the frontal cortex.


Apocrine hidrocystoma

description: A cystic lesions that forms a benign tumor of an apocrine sweat gland.


name: Anomalous hepatic venous drainage into the left atrium

description: An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium.


name: Elevated urinary ureidoisobutyric acid level

description: The amount of ureidoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. Ureidoisobutyric acid is increased in the urine of patients with beta-ureidopropionase (EC 3.5.1.6) deficiency.


neutrophil actin dysfunction

description: Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma.


Storage in hepatocytes

description: Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.


Sternal pit

description: A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum.


Infra-aortic superior vena cava

description: The superior vena cava passes below the aortic arch.


name: Short proximal phalanx of the 3rd finger

description: Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger.


name: Oligoclonal elevation of circulating IgA

description: An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


name: Absent epiphysis of the distal phalanx of the 2nd toe


Abnormality of adrenal physiology

description: A functional abnormality of the adrenal glands.


Low plasma citrulline

description: A decreased concentration of citrulline in the blood.


name: Enlarged epiphyses of the proximal phalanges of the hand


Recurrent bronchitis

description: An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.


Mesomelic arm shortening

description: Shortening of the middle parts of the arm in relation to the upper and terminal segments.


name: Elevated circulating insulin:C-peptide ratio

description: Increased ratio of insulin to C-peptide in the blood circulation.


name: Complete duplication of the distal phalanx of the 4th finger

description: Complete duplication of the distal phalanx of ring finger.


Aortic stiffness

description: The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension.


Focal undressing automatism seizure

description: A type of focal automatism seizure characterized by involuntary undressing at onset.


heroin dependence

description: Physical and psychological dependence on the drug heroin.


Abnormal CSF methionine concentration

description: Any deviation from the normal concentration of methionine in the cerebrospinal fluid.


name: Congenital malformation of the right heart

description: Defect or defects of the morphogenesis of the right heart identifiable at birth.


Generalized microdontia

description: A generalized form of microdontia.


Interrupted aortic arch type B

description: Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries.


Agenesis of maxillary premolar

description: Agenesis of maxillary premolar.


Forearm

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the forearm.


Neurite dystrophy

description: Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins.


Secondary Caesarian section

description: Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth.


name: Fragmentation of the epiphyses of the phalanges of the hand

description: Fragmented appearance of the epiphyses of the phalanges of the fingers.


Oral synechia

description: Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.


name: Supraventricular tachycardia with an accessory connection mediated pathway

description: Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism.


name: Abnormality of the proximal phalanx of the thumb

description: An anomaly of the shape or form of the proximal phalanx of the thumb.


name: Enlarged epiphysis of the proximal phalanx of the 3rd finger

description: Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.


Absent middle phalanx of 4th finger

description: Absence of the middle phalanx of the ring (4th) finger.


Digital ischemia

description: Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis.


Feculent vomiting

description: Vomiting of material that is of fecal origin.


Diamond-Blackfan anemia 12

description: Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene.


name: negative regulation of metanephric nephron tubule epithelial cell differentiation

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

description: Any process that decreases the frequency, rate or extent of metanephric nephron tubule epithelial cell differentiation.


name: regulation of mesonephric nephron tubule epithelial cell differentiation

description: Any process that modulates the frequency, rate or extent of mesonephric nephron tubule epithelial cell differentiation.


name: negative regulation of mesonephric nephron tubule epithelial cell differentiation

description: Any process that stops, prevents, or reduces the frequency, rate or extent of mesonephric nephron tubule epithelial cell differentiation.


name: Stage IIIA Gestational Trophoblastic Tumor AJCC v7

description: Stage IIIA includes: Any T, M1a, Risk factors: low risk.  M1a: Lung metastasis.  (AJCC 7th ed.)


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

description: Catalysis of the transfer of an N-acetylgalactosaminyl residue from UDP-N-acetyl-galactosamine to an acceptor molecule, forming an alpha-1,4 linkage.


stomach glandular epithelium

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

description: A glandular epithelium that lines the stomach. The stomach's glandular epithelium is characterized by the presence of gastric glands.


name: 4-hydroxyphenylacetaldehyde oxime monooxygenase activity

description: Catalysis of the reaction: (Z)-(4-hydroxyphenyl)acetaldehyde oxime + H+ + NADPH + O2 = (S)-4-hydroxymandelonitrile + 2 H2O + NADP+.


Transient neonatal pustulosis

description: A benign, self-limited eruption of vesicles, pustules and macules seen in newborns. The fluid-filled lesions typically rupture and resolve within 48 hours while the macular lesions may persist for months.


thyroid hormone metabolism, abnormal 1

description: A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.


permanent congenital hypothyroidism

description: Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth.


peripheral hypothyroidism

description: Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism.


name: hypothyroidism due to deficient transcription factors involved in pituitary development or function

description: Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.


congenital nongoitrous hypothyroidism 6

description: Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.


name: peripheral resistance to thyroid hormones

description: Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth.


name: hypothyroidism, congenital, nongoitrous, 7


congenital nongoitrous hypothyroidism 3

description: A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1.


name: X-linked central congenital hypothyroidism with late-onset testicular enlargement

description: An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency.


name: distal epiphysis of distal phalanx of pedal digit 4

description: A distal epiphysis that is part of a distal phalanx of pedal digit 4.


epiphysis of distal phalanx of pes

description: An epiphysis that is part of a distal phalanx of pes.


name: distal epiphysis of distal phalanx of pedal digit 3

description: A distal epiphysis that is part of a distal phalanx of pedal digit 3.


name: distal epiphysis of distal phalanx of pedal digit 2

description: A distal epiphysis that is part of a distal phalanx of pedal digit 2.


name: distal epiphysis of distal phalanx of pedal digit


name: distal epiphysis of distal phalanx of pedal digit 5

description: A distal epiphysis that is part of a distal phalanx of pedal digit 5.


name: distal epiphysis of distal phalanx of pedal digit 1

description: A distal epiphysis that is part of a distal phalanx of pedal digit 1.


Factor XIII Inactivation

description: Presence of inactivating antibodies to factor XIII in the blood.


acquired factor XIII deficiency

description: An acquired coagulation disorder due to reduced levels and activity of factor XIII.


ERBB3-ERBB4 signaling pathway

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

description: The series of molecular signals transmitted by a heterodimeric complex of the tyrosine kinase receptors ERBB3 and ERBB4. The pathway begins with binding of a ligand to either cell surface receptor, or the dimeric receptor complex, and ends with regulation of a downstream cellular process, e.g. transcription.


spinal intradural arachnoid cysts

description: Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery.


intracranial arachoid cyst

description: A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid.


name: negative regulation of cytoplasmic translational elongation through polyproline stretches

description: Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational elongation through polyproline stretches.


name: regulation of cytoplasmic translational elongation through polyproline stretches

description: Any process that modulates the frequency, rate or extent of cytoplasmic translational elongation through polyproline stretches.


name: positive regulation of cytoplasmic translational elongation through polyproline stretches

description: Any process that activates or increases the frequency, rate or extent of cytoplasmic translational elongation through polyproline stretches.


name: Ductal Eccrine Carcinoma with Abundant Fibromyxoid Stroma

description: A variant of ductal eccrine carcinoma with abundant fibromyxoid stroma.


name: negative regulation of plasmacytoid dendritic cell cytokine production

description: Any process that stops, prevents, or reduces the frequency, rate, or extent of plasmacytoid dendritic cell cytokine production.


retinitis pigmentosa 50

description: Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene.


distal trisomy 9q

description: Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed.


Childhood Ovarian Mixed Germ Cell Tumor

description: A mixed germ cell tumor that arises from the ovary and occurs in children.


ovarian mixed germ cell neoplasm

description: An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor.


name: negative regulation of neutrophil mediated killing of bacterium

description: Any process that decreases the frequency, rate or extent of the directed killing of a bacterium by a neutrophil.


name: negative regulation of neutrophil mediated killing of symbiont cell

description: Any process that decreases the frequency, rate or extent of the directed killing of a symbiont target cell by a neutrophil.


name: negative regulation of neutrophil mediated killing of fungus

description: Any process that decreases the frequency, rate or extent of the directed killing of a fungal cell by a neutrophil.


name: negative regulation of neutrophil mediated killing of gram-negative bacterium

description: Any process that decreases the frequency, rate or extent of the directed killing of a gram-negative bacterium by a neutrophil.


name: negative regulation of neutrophil mediated killing of gram-positive bacterium

description: Any process that decreases the frequency, rate or extent of the directed killing of a gram-positive bacterium by a neutrophil.


description: Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction chloride(in) + 2 hydrogencarbonate(out) + Na+(out) = chloride(out) + 2 hydrogencarbonate(in) + Na+(in).


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


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


description: Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: chloride(in) + HCO3-(out) = chloride(out) + HCO3-(in).


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


name: ADP:phosphate antiporter activity

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


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


name: sulfate:chloride antiporter activity

description: Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: chloride(in) + sulfate(out) = chloride(out) + sulfate(in).


name: glucose 6-phosphate:phosphate antiporter activity

description: Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: glucose 6-phosphate(out) + phosphate(in) = glucose 6-phosphate(in) + phosphate(out).


name: glyceraldehyde 3-phosphate:phosphate antiporter activity

description: Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: glyceraldehyde 3-phosphate(out) + phosphate(in) = glyceraldehyde 3-phosphate(in) + phosphate(out).


name: oxalate:chloride antiporter activity

description: Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: chloride(out) + oxalate(in) = chloride(in) + oxalate(out).


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


name: glycerone phosphate:phosphate antiporter activity

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


name: sulfate:bicarbonate antiporter activity

description: Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: sulfate(out) + bicarbonate(in) = sulfate(in) + bicarbonate(out).


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


name: chloride:proton antiporter activity

description: Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: chloride(out) + proton(in) = chloride(in) + proton(out).


name: ATP:phosphate antiporter activity

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


name: Metastatic malignant neoplasm to pituitary gland

description: A malignant neoplasm metastasizing to the pituitary gland from another anatomic site.  The vast majority are carcinomas usually arising from the breast, lung, and gastrointestinal tract.


name: Metastatic Malignant Neoplasm in the Sellar Region

description: A malignant neoplasm that has metastasized to the sellar region from another anatomic site.


tRNA methylthiolation

description: The addition of a methylthioether group (-SCH3) to a nucleotide in a tRNA molecule.


name: cardiac muscle progenitor cell migration to the midline involved in heart field formation

description: The orderly movement of a myocardial progenitor cell toward the midline to form the heart field. Cardiac muscle progenitor cells are non-terminally differentiated, mesoderm-derived cells that are committed to differentiate into myocardial cells of the heart.


name: cardioblast migration to the midline involved in heart field formation

description: The orderly movement of a cardioblast toward the midline to form the heart field. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating.


name: endocardial progenitor cell migration to the midline involved in heart field formation

description: The orderly movement of an endocardial progenitor cell toward the midline to form the heart field. Cardiac muscle progenitor cells are non-terminally differentiated, mesoderm-derived cells that are committed to differentiate into endocardial cells of the heart.


Esophageal Dysphagia

description: Difficulty in swallowing due to an abnormality in the esophagus.


name: Stage IC Fallopian Tube Cancer AJCC v6 and v7

description: Stage IC includes: T1c, N0, M0.  T1c: Tumor limited to one or both tubes with extension onto or through the tubal serosa, or with malignant cells in ascites or peritoneal washings.  N0: No regional lymph node metastasis.  M0: No distant metastasis.  (AJCC 6th and 7th eds.)


metal-dependent deubiquitinase activity

description: An metal-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated.


adult salivary gland morphogenesis

description: The process in which the anatomical structures of the adult salivary gland are generated and organized.


salivary gland histolysis

description: The stage-specific break down of the larval salivary glands during Drosophila metamorphosis, to allow replacement of larval structures by tissues and structures that form the adult fly.


neurohypophysis morphogenesis

description: The process in which the anatomical structures of the neurohypophysis are generated and organized. The neurohypophysis is the part of the pituitary gland that secretes hormones involved in blood pressure regulation.


larval salivary gland morphogenesis

description: The process, occurring in the larva, by which the anatomical structures of the salivary gland are generated and organized.


seminal vesicle morphogenesis

description: The process in which the anatomical structures of a seminal vesicle are generated and organized.


sennetsu fever

description: A disease caused by infection with Neorickettsia sennetsu.


Anaplasmataceae infectious disease

description: Infections with bacteria of the family anaplasmataceae.


human monocytic ehrlichiosis

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


anaplasmosis

description: A disease or disorder caused by infection with Anaplasma.


human granulocytic ehrlichiosis

description: A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex.


Neorickettsia infectious disease

description: A disease caused by infection with Neorickettsia.


ehrlichiosis

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


name: epicardium-derived cardiac vascular smooth muscle cell fate commitment

description: The commitment of an epicardial cell to a cardiac vascular smooth muscle cell fate and its capacity to differentiate into a cardiac vascular smooth muscle cell.


name: cardiac vascular smooth muscle cell fate commitment

description: The commitment of cells to a cardiac vascular smooth muscle cell fate and its capacity to differentiate into a cardiac vascular smooth muscle cell.


aleurone grain lumen

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

description: The volume enclosed by the membrane of an aleurone grain.


exocytic vesicle lumen

description: The volume enclosed by an exocytic vesicle.


COPII-coated vesicle lumen

description: The volume enclosed by the membrane of a COPII-coated endocytic vesicle.


Golgi-associated vesicle lumen

description: The volume enclosed by the membrane of a Golgi-associated vesicle.


acrosomal lumen

description: The volume enclosed within the acrosome membrane.


COPI-coated vesicle lumen

description: The volume enclosed by the membrane of a COPI-coated endocytic vesicle.


synaptic vesicle lumen

description: The volume enclosed by the synaptic vesicle membrane.


name: clathrin-sculpted acetylcholine transport vesicle lumen

description: The volume enclosed by the membrane of the clathrin-sculpted acetylcholine transport vesicle.


name: clathrin-sculpted monoamine transport vesicle lumen

description: The volume enclosed by the membrane of the clathrin-sculpted monoamine transport vesicle.


cytolytic granule lumen

description: Any cytoplasmic membrane-bounded vesicle lumen that is part of a cytolytic granule.


name: multivesicular body, internal vesicle lumen

description: The volume enclosed by the membrane of the multivesicular body internal vesicle.


plasma membrane-derived thylakoid lumen

description: The volume enclosed by a plasma membrane-derived thylakoid.


platelet dense granule lumen

description: The volume enclosed by the membrane of the platelet dense granule.


name: trans-Golgi network transport vesicle lumen

description: The volume enclosed within the membrane of a trans-Golgi network transport vesicle.


specific granule lumen

description: The volume enclosed by the membrane of a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase.


melanosome lumen

description: The volume enclosed by the melanosome membrane.


dense core granule lumen

description: The volume enclosed by the dense core granule membrane.


name: clathrin-sculpted glutamate transport vesicle lumen

description: The volume enclosed by the membrane of the clathrin-sculpted glutamate transport vesicle.


esterosome lumen

description: The volume enclosed by the membrane of an esterosome.


spine apparatus lumen

description: The volume enclosed by the spine apparatus membrane.


name: clathrin-sculpted gamma-aminobutyric acid transport vesicle lumen

description: The volume enclosed by the membrane of the clathrin-sculpted gamma-aminobutyric acid transport vesicle.


transport vesicle lumen

description: The volume enclosed within the membrane of a transport vesicle.


phagolysosome vesicle lumen

description: The volume enclosed by the membrane of a phagolysosome.


neuronal dense core vesicle lumen

description: The volume enclosed by a neuronal dense core vesicle membrane.


chromaffin granule lumen

description: The volume enclosed by the membrane of a chromaffin granule.


Lacrimal Gland Cyst

description: Swelling of the lacrimal duct due to excess fluid.


pyoureter

description: An abscess that is located in the ureter.


name: Refractory Fallopian Tube Clear Cell Adenocarcinoma

description: Fallopian tube clear cell adenocarcinoma that is resistant to treatment.


compound eye

description: A light sensing organ composed of ommatidia.


delta-carotene biosynthetic process

description: The chemical reactions and pathways resulting in the formation of delta-carotene.


response to 11-deoxycorticosterone

description: Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a 11-deoxycorticosterone stimulus.


response to aldosterone

description: Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an aldosterone stimulus.


name: cellular response to 11-deoxycorticosterone

description: Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a 11-deoxycorticosterone stimulus.


cellular response to aldosterone

description: Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an aldosterone stimulus.


Joubert syndrome 20

description: Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene.


name: endoplasmic reticulum-Golgi intermediate compartment (ERGIC) derived vesicle fusion with endoplasmic reticulum membrane

description: The joining of the lipid bilayer membrane around an ERGIC-derived vesicle to the lipid bilayer membrane of the ER. Such vesicles include COPI-coated transport vesicles involved in retrograde transport.


description: Catalysis of the reaction: ATP(4-) + H2O + a trans-keto-C61-meroacyl-[acp] = diphosphoric acid + a trans-keto-meroacyl-adenylate + a holo-[acyl-carrier protein].


vanadium-iron nitrogenase complex

description: An enzyme complex containing a vanadium-iron cluster found in some species, such as Azotobacter vinelandii. It is composed of two proteins, dinitrogenase and nitrogenase reductase; dinitrogenase, the vanadium-iron protein, is tetrameric with an alpha2-beta2 structure, and nitrogenase reductase is a homodimer.


propionyl-CoA metabolic process

description: The chemical reactions and pathways involving propionyl-CoA.


propionyl-CoA biosynthetic process

description: The chemical reactions and pathways resulting in the formation of propionyl-CoA.


propionyl-CoA catabolic process

description: The chemical reactions and pathways resulting in the breakdown of propionyl-CoA.


name: positive regulation of violaceol I biosynthetic process

description: Any process that activates or increases the frequency, rate or extent of violaceol I biosynthetic process.


ovarian solid teratoma

description: A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present.


name: positive regulation of cellotriose transport

description: Any process that activates or increases the frequency, rate or extent of cellotriose transport.


familial temporal lobe epilepsy 4

description: A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.


small-subunit processome assembly

description: The aggregation, arrangement and bonding together of proteins and RNA molecules to form a small-subunit processome.


Cyanotic Body

description: Blue- or purplish-colored body; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the body.


Neonatal acrocyanosis

description: Transient cyanotic discoloration of the hands and feet, especially fingers and toes, in a newborn.


Cyanotic Limbs

description: Blue- or purplish-colored limbs; this is caused by excessive amounts of deoxygenated hemoglobin in the skin vessels of the limbs.


Locally Advanced Endometrial Carcinoma

description: Endometrial carcinoma that has spread to nearby tissues or lymph nodes.


name: Locally Advanced Endometrial Adenocarcinoma

description: Endometrial adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


name: Locally Advanced Unresectable Endometrial Carcinoma

description: Endometrial carcinoma that has spread from its original site of growth to nearby tissues or lymph nodes and is not amenable to surgical resection.


name: Locally Advanced Endometrial Endometrioid Adenocarcinoma

description: Endometrial endometrioid adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Stage IVB Thymoma AJCC v8

description: Stage IVB includes: (Any T, N2, M0, M1a); (Any T, Any N, M1b). N2: Metastasis in deep intrathoracic or cervical lymph nodes. M0: No distant metastasis. M1a: Separate pleural or pericardial nodule(s). M1b: Pulmonary intraparenchymal nodule or distant organ metastasis. (AJCC 8th ed.)


name: Stage IVB Thymic Epithelial Neoplasm AJCC v8


pediatric cerebral ependymoblastoma

description: An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the cerebral hemispheres and occurs in children.


name: childhood cerebellar astrocytic neoplasm

description: Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood.


name: supratentorial ependymoma, ZFTA fusion–positive

description: A suptratentorial ependymoma that is characterized by the presence of a fusion gene involving ZFTA gene.


childhood brainstem astrocytoma

description: An astrocytoma that arises from the brain stem and occurs during childhood.


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.


name: pineal parenchymal tumor of intermediate differentiation

description: A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO)


desmoplastic infantile astrocytoma

description: A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)


astroblastoma

description: Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches.


IDH-mutant anaplastic astrocytoma

description: An anaplastic astrocytoma carrying IDH mutations.


melanotic neuroectodermal tumor

description: A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course.


desmoplastic infantile ganglioglioma

description: A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO)


extraventricular neurocytoma

description: Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior.


papillary glioneuronal tumor

description: A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present.


name: melanotic psammomatous malignant peripheral nerve sheath tumor

description: A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies.


tanycytic ependymoma

description: A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.)


cerebral neuroblastoma

description: A neuroblastoma arising from the cerebral hemispheres.


name: childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered

description: A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children.


name: spinal cord primitive neuroectodermal tumor

description: A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord.


brain stem astrocytic neoplasm

description: An astrocytoma that arises from the brain stem.


mediastinal schwannoma

description: A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative.


benign glioma

description: A form of glioma without malignant characteristics.


papillary ependymoma

description: A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO)


adrenal gland ganglioneuroblastoma

description: A ganglioneuroblastoma arising from the adrenal gland.


pineal gland astrocytoma

description: A astrocytoma that involves the pineal body.


posterior fossa group A ependymoma

description: A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression.


gangliocytoma

description: A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells.


trigeminal schwannoma

description: A schwannoma that involves the trigeminal nerve.


childhood ependymoma

description: An ependymoma that arises from the central nervous system and occurs during childhood.


oligoastrocytoma

description: A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)


gliomatosis cerebri

description: A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.)


Pacinian tumor

description: A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles.


adult anaplastic ependymoma

description: An anaplastic ependymoma occurring in adults.


optic tract astrocytoma

description: An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group.


neurothekeoma

description: A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma.


brain glioma

description: A malignant glioma that involves the brain.


name: peripheral primitive neuroectodermal tumor of bone

description: A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain.


name: primitive neuroectodermal tumor of the corpus uteri

description: A primitive neuroectodermal tumor that involves the body of uterus.


extracranial neuroblastoma

description: A neuroblastoma arising from an anatomic site other than the brain.


spinal cord neuroblastoma

description: A neuroblastoma that affects the spinal cord.


spinal ependymoma, MYCN-amplified

description: A spinal cord ependymoma that is characterized by MYCN amplification.


name: neurofibromatosis, type III, mixed central and peripheral


mesenchymal glioblastoma

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


name: malignant cardiac peripheral nerve sheath neoplasm

description: A very rare malignant peripheral nerve sheath tumor that arises from the heart.


ependymal tumor

description: A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO)


perineurioma

description: A usually benign perineurioma not associated with a nerve, arising from the soft tissues.


adult brainstem astrocytoma

description: An astrocytoma of the brain stem that occurs during adulthood.


IDH-wildtype anaplastic astrocytoma

description: An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes.


schwannoma of twelfth cranial nerve

description: A schwannoma that involves the hypoglossal nerve.


astrocytoma, IDH-mutant, grade 4

description: An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas.


adult pineal parenchymal tumor

description: A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults.


spinal cord oligodendroglioma

description: A oligodendroglioma that involves the spinal cord.


optic nerve astrocytoma

description: A astrocytoma (excluding glioblastoma) that involves the cranial nerve II.


posterior fossa group B ependymoma

description: A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression.


differentiating neuroblastoma

description: A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells.


adult brainstem gliosarcoma

description: A gliosarcoma of the brain stem that occurs during adulthood.


malignant triton tumor

description: Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation.


childhood optic nerve glioma

description: A glioma affecting the optic tract and occurring in childhood.


peripheral nerve schwannoma

description: A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported.


low grade glioma

description: A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma.


name: stroma-dominant and stroma-poor composite ganglioneuroblastoma

description: A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume.


anaplastic oligodendroglioma

description: A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity).


grade II glioma

description: A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma.


optic pathway glioma

description: Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1).


name: diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

description: A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations.


juvenile pilocytic astrocytoma

description: A pilocytic astrocytoma that occurs during adolescence.


clear cell ependymoma

description: An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo.


name: high-grade astrocytoma with piloid features

description: An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa.


name: pleomorphic xanthoastrocytoma BRAF mutant

description: An anaplastic pleomorphic xanthoastrocytoma that has material basis in BRAF mutations.


anaplastic oligoastrocytoma

description: An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity.


name: childhood central nervous system primitive neuroectodermal neoplasm

description: A central nervous system embryonal tumor, not otherwise specified that occurs in childhood.


malignant peripheral nerve sheath tumor

description: Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites.


gliofibroma

description: An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma).


atypical neurofibroma

description: A neurofibroma characterized by the presence of cellular pleomorphism.


name: supratentorial ependymoma, YAP1 fusion–positive

description: A supratentorial ependymoma that is characterized by the presence of a fusion gene involving YAP1 gene.


name: peripheral primitive neuroectodermal tumor of soft tissues

description: A small round cell tumor with neural differentiation arising from the soft tissues.


name: schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma

description: A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume.


peripheral ganglioneuroblastoma

description: A ganglioneuroblastoma arising from the peripheral nervous system.


chordoid glioma of the third ventricle

description: A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates.


name: malignant melanocytic peripheral nerve sheath tumor of mediastinum

description: A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin.


childhood astrocytic tumor

description: An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location.


name: malignant cutaneous granular cell skin tumor

description: A malignant granular cell tumor that arises from the skin.


neural glioblastoma

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


name: diffuse astrocytoma, MYB- or MYBL1-altered

description: A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1.


granular cell leiomyosarcoma

description: An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes.


name: benign mediastinal psammomatous neurilemmoma

description: A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies.


ependymal tumor of spinal cord

description: An ependymal tumor that arises from the spinal cord.


brain stem ependymoma

description: An ependymoma that arises from the brain stem.


grade III glioma

description: A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma.


childhood low-grade glioma

description: A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology.


name: adult embryonal tumor with multilayered rosettes, c19mc-altered

description: An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults.


diffuse glioma, H3 G34 mutant

description: A histone mutated tumor that has material basis in mutations in codon 34 of the H3 histone family 3A protein.


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.


spinal cord glioma

description: A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma.


adult brainstem glioma

description: A brain stem glioma that occurs in an adult.


myxopapillary ependymoma

description: Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population.


astroblastoma, MN1-altered

description: An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q.


mediastinal granular cell myoblastoma

description: An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum.


name: oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2

description: An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis).


sympathetic neurilemmoma

description: A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus.


cellular ependymoma

description: An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO)


adult oligodendroglioma

description: An oligodendroglioma occurring during adulthood.


name: IDH-mutant and 1p/19q-codeleted oligodendroglioma

description: An anaplastic oligodendroglioma that has material basis in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion).


description: An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children.


papillary tumor of the pineal region

description: Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus.


high grade astrocytic tumor

description: An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor).


malignant perineurioma

description: A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate.


cerebellar pilocytic astrocytoma

description: A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis.


retroperitoneal neuroblastoma

description: A neuroblastoma that involves the retroperitoneal space.


name: intracranial primitive neuroectodermal tumor

description: A primitive neuroectodermal tumor that involves the brain.


adult pineoblastoma

description: A pineoblastoma occurring in adults.


low grade astrocytic tumor

description: A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II).


childhood pilocytic astrocytoma

description: A pilocytic astrocytoma that occurs during childhood.


infant-type hemispheric glioma

description: A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood.


diffuse astrocytoma

description: A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified.


gemistocytic astrocytoma

description: A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO)


name: oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3

description: An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas.


brain oligodendroglioma

description: A oligodendroglioma that involves the brain.


adult brainstem mixed glioma

description: A mixed glioma of the brain stem that occurs during adulthood.


description: A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components.


name: intermixed schwannian stroma-rich ganglioneuroblastoma

description: A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules.


adult infiltrating astrocytic neoplasm

description: An infiltrating astrocytic tumor of the brain occurring in adults.


plexiform schwannoma

description: A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck.


posterior fossa ependymoma

description: A high grade ependymoma that is located within the posterior fossa.


cerebral astrocytoma

description: An astrocytoma that arises from the cerebral hemispheres.


oligodendroglial tumor

description: Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas).


astrocytic tumor

description: A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.


epithelioid neurofibroma

description: A rare neurofibroma with epithelioid morphology.


granular cell cancer

description: An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity.


childhood optic tract astrocytoma

description: An astrocytoma that arises from the visual pathway and occurs during childhood.


name: diffuse low-grade glioma, MAPK pathway–altered

description: A low grade glioma that is characterized by a gene alteration that results in a MAPK pathway abnormality, with morphological features of astrocytoma or oligodendroglioma.


nasal ganglioglioma

description: Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction.


olfactory neuroblastoma

description: An olfactory neuroblastoma arising in the paranasal sinus.


melanotic neurilemmoma

description: A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients.


RELA fusion-positive ependymoma

description: A supratentorial ependymoma characterized by a gene fusion involving ZFTA and RELA genes. It accounts for the majority of supratentorial ependymomas in children. It has an unfavorable outcome when compared to other ependymoma subtypes.


cellular schwannoma

description: A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies.


extraneural perineurioma

description: Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization.


cerebellar astrocytoma

description: Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative.


adult malignant schwannoma

description: A malignant peripheral nerve sheath tumor occurring during adulthood.


adult brain ependymoma

description: An ependymoma of the brain occurring in adults.


intraneural perineurioma

description: A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells.


retinal neuroblastoma

description: A neuroblastoma arising from the retina.


ependymal tumor of brain

description: A tumor arising from the ependymal lining of the ventricles.


vulvar granular cell tumor

description: A usually benign granular cell tumor that arises from the vulva.


description: A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields.


spinal cord astrocytoma

description: A low or high grade astrocytoma that arises in the spinal cord.


mixed astrocytoma-ependymoma

description: A tumor of mixed cell type with astrocytic components as well as ependymoma components.


diffuse intrinsic pontine glioma

description: A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis.


diffuse midline glioma, H3 K27M-mutant

description: A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system.


mediastinum ganglioneuroblastoma

description: A ganglioneuroblastoma arising from the mediastinum.


name: epithelioid malignant peripheral nerve sheath tumor

description: A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells.


subependymoma

description: Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma.


Askin tumor

description: A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma.


protoplasmic astrocytoma

description: A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO)


mediastinal melanocytic neurilemmoma

description: A melanotic schwannoma that affects the mediastinum.


neurohypophysis granular cell tumor

description: A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO)


pilomyxoid astrocytoma

description: An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive.


nodular ganglioneuroblastoma

description: A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules.


name: YAP1-MAMLD1 fusion-positive supratentorial ependymoma

description: A supratentorial ependymoma that has material basis in YAP1-MAMLD1 fusion.


neuroepithelioma

description: Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation.


childhood malignant schwannoma

description: A malignant peripheral nerve sheath tumor occurring in children.


IDH-wildtype glioblastoma

description: A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes.


nerve sheath neoplasm

description: A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor.


supratentorial ependymal tumor

description: An ependymal tumor arising from the supratentorial region of the brain.


adult spinal cord ependymoma

description: An ependymoma of the spinal cord occurring in adults.


frontal lobe ependymal tumor

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


anaplastic ependymoma

description: Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking.


angiocentric glioma

description: Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis.


cervical neuroblastoma

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


adrenal gland neuroblastoma

description: A neuroblastoma arising from the adrenal gland.


infratentorial ependymal tumor

description: An ependymal tumor arising from the infratentorial region of the brain.


mediastinum neurofibroma

description: A neurofibroma that arises from the posterior mediastinum. Excision is usually curative.


name: cauda equina intradural extramedullary astrocytoma


nasal cavity olfactory neuroblastoma

description: An olfactory neuroblastoma arising in the nasal cavity.


corpus callosum oligodendroglioma

description: A oligodendroglioma that involves the corpus callosum.


name: malignant melanocytic neoplasm of the peripheral nerve sheath

description: A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin.


anaplastic ganglioglioma

description: A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO)


astrocytoma, IDH-mutant, grade 3

description: An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features.


mixed glioma

description: A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes).


cutaneous ganglioneuroma

description: A ganglioneuroma arising from the skin.


adult spinal cord glioblastoma

description: A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5)


name: central nervous system tumor with bcor internal tandem duplication

description: A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene.


parietal lobe ependymal tumor

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


schwannoma of ureter

description: A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter.


mediastinum neuroblastoma

description: A neuroblastoma arising from the mediastinum.


childhood brain stem glioma

description: An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life.


diencephalic astrocytomas

description: A astrocytoma that involves the diencephalon.


microcystic/reticular schwannoma

description: The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue.


dopaminergic neuroblastoma

description: A neuroblastoma associated with increased dopamine excretion.


cellular neurofibroma

description: A neurofibroma characterized by the presence of areas with increased cellularity.


description: Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures.


spinal cord ependymoma

description: An ependymoma that arises from the spinal cord.


astrocytoma, IDH-mutant, grade 2

description: An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system.


pediatric infratentorial ependymoma

description: An ependymoma that arises from the infratentorial region of the brain and occurs during childhood.


cns neuroblastoma with FOXR2 activation

description: A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo.


cutaneous granular cell tumor

description: A granular cell tumor that involves the zone of skin.


adult glioblastoma

description: A glioblastoma occurring in adults.


brain glioblastoma

description: A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor.


breast granular cell tumor

description: A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm.


schwannomatosis

description: The least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.


supratentorial ependymoma

description: A high grade ependymoma that is located within the supratentorial brain.


name: adult central nervous system primitive neuroectodermal neoplasm

description: A central nervous system embryonal tumor, not otherwise specified that occurs in adults.


congenital epulis

description: A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative.


giant cell glioblastoma

description: A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)


pediatric supratentorial ependymoma

description: An ependymoma that arises from the supratentorial region of the brain and occurs during childhood.


childhood cerebral astrocytoma

description: An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children.


fibrillary astrocytoma

description: The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)


neurilemmoma of the pleura

description: A schwannoma that involves the pleura.


name: malignant glandular tumor of peripheral nerve sheath

description: A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium.


adult astrocytic tumor

description: An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma.


childhood oligodendroglioma

description: An oligodendroglioma that arises from the central nervous system and occurs during childhood.


granular cell tumor

description: An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast.


gliosarcoma

description: A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO).


schwannoma of jugular foramen

description: A rare intracranial schwannoma that affects the jugular foramen.


brain astrocytoma

description: A astrocytoma (excluding glioblastoma) that involves the brain.


name: negative regulation of tyrosine 3-monooxygenase activity

description: Any process that stops, prevents or reduces the frequency, rate or extent of tyrosine 3-monooxygenase activity.


positive regulation of hippo signaling

description: Any process that activates or increases the frequency, rate or extent of hippo signaling.


disulfide

Compounds of structure RSSR'.


D-cystine

The D-enantiomer of cystine.


organic disulfide

Compounds of structure RSSR in which R and R' are organic groups.


name: positive regulation of fatty acid beta-oxidation by octopamine signaling pathway

description: An octopamine signaling pathway that results in positive regulation of fatty acid beta-oxidation.


description: Catalysis of the reaction: glucosylglycerate + phosphate = glucose-1-phosphate + D-glycerate.


Recurrent Lung Neuroendocrine Neoplasm

description: The reemergence of a lung neuroendocrine neoplasm after a period of remission.


benign testicular sertoli cell tumor

description: A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent.


testicular sertoli cell tumor

description: A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course.


Refractory Childhood Lymphoma

description: Childhood Hodgkin or non-Hodgkin lymphoma that is resistant to treatment.


Refractory Childhood Hodgkin Lymphoma

description: Hodgkin lymphoma that occurs during childhood and is resistant to treatment.


Sarcoma GX

description: A sarcoma in which the grade cannot be evaluated.


name: developmental and epileptic encephalopathy, 86


Tuberculous bronchopneumonia

description: Acute and progressive bronchopneumonia caused by Mycobacterium tuberculosis bacteria.  It is characterized by widespread pulmonary patchy consolidations.


name: equatorial microtubule organizing center disassembly

description: The process in which the equatorial microtubule organizing center is disassembled at the end of mitosis.


Advanced HER2-Low Breast Carcinoma

description: A HER2-low breast adenocarcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


name: positive regulation of FACT complex assembly

description: Any process that activates or increases the frequency, rate or extent of FACT complex assembly.


name: combined oxidative phosphorylation defect type 30

description: Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene.


name: negative regulation of neutrophil extravasation

description: Any process that stops, prevents or reduces the frequency, rate or extent of neutrophil extravasation.


name: negative regulation of glucuronoarabinoxylan catabolic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of glucuronoarabinoxylan catabolic process.


name: negative regulation of glucuronoxylan catabolic process

description: Any process that stops, prevents or reduces the frequency, rate or extent of glucuronoxylan catabolic process.


craniocervical lymph node

description: Lymph node located in either head and neck region.