Gingival cleft

description: A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.


Hypoplasia of the maxilla

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

description: Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.


Partial absence of finger

description: The absence of a phalangeal segment of a finger.


Abnormal CSF aspartate concentration

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


Renal necrosis

description: Cell death (necrosis) affecting one or more parts of the kidney.


Reduced radioactive iodine uptake

description: A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.


Chronic (near) absent circulating IgG4

description: A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured.


alopecia totalis

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

description: Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous.


Absent pigmentation of chest

description: Lack of skin pigmentation (coloring) of the chest.


Fetal anemia

description: Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery.


spermatogenic failure 6

description: Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene.


Biceps hyporeflexia

description: Reduced intensity of the biceps tendon reflex.


Non-pitting edema

description: Non-pitting edema occurs when excess fluid builds up in the body causing swelling that does not indent when pressure is applied. It usually occurs in the limbs, and often results from underlying medical conditions affecting lymphatic system function.


name: Decreased circulating membrane cofactor protein concentration

description: Concentration of membrane cofactor protein in the blood circulation below the lower limit of normal.


Focal bilateral motor seizure

description: A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset.


Arthralgia of the hip

description: Joint pain affecting the hip.


Arcuate artery intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney.


Focal aware tonic seizure

description: A type of focal tonic seizure during which awareness is fully retained throughout.


name: Apical hypertrabeculation of the left ventricle

description: An increased number and density of the trabeculae in the apex (tip) of the left ventricle.


External tibial torsion

description: External twisting of the tibia resulting in the toes of each foot pointing outward (outtoeing) .


name: Pseudoepiphysis of the middle phalanx of the 3rd finger

description: A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


Neoplasm of fatty tissue

description: A tumor (abnormal growth of tissue) of adipose tissue.


neurogenic arthropathy

description: Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)


Basal ganglia calcification

description: The presence of calcium deposition affecting one or more structures of the basal ganglia.


Adrenal gland dysgenesis

description: Abnormal development of the adrenal gland.


Sclerosis of middle toe phalanx

description: An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Limb joint contracture

description: A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.


name: Cortical radial artery leukocyte hypercellularity

description: A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).


name: Buried teeth encased in mucopolysaccharide


Bilateral superior vena cava

description: The presence of a left and a right superior vena cava.


Minifascicle formation

description: A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle.


name: Abnormal circulating phytanic acid concentration

description: Any deviation from the normal concentration of phytanic acid in the blood circulation.


name: Chronic partially decreased circulating IgG4

description: A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood.


Increased fetal movement

description: An abnormal increase in quantity or strength of fetal movements.


Euthyroid goiter

description: A goiter that is not associated with functional thyroid abnormalities.


Severe muscular hypotonia

description: A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.


Poliosis

description: Circumscribed depigmentation of the hair of the head or the eyelashes.


Fractured mandible

description: A partial or complete breakage of the mandible.


Increased circulating osteocalcin level

description: An elevated level of osteocalcin in the blood.


Excessive checking

description: Checking behavior that is excessive for the situational context.


Incisor macrodontia

description: Increased size of the incisor tooth.


name: Ivory epiphysis of the distal phalanx of the hallux


name: Aplasia/Hypoplasia of the proximal phalanx of the thumb

description: This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


name: Aplasia/Hypoplasia involving the carpal bones

description: Absence or underdevelopment of the carpal bones.


name: Reduced left ventricular ejection fraction

description: A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.


Curved proximal phalanx of the 4th toe

description: A deviation from the normal straight form of the proximal phalanx of the fourth toe.


name: Abnormal circulating ceruloplasmin concentration

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


Ectopic anterior pituitary gland

description: Abnormal anatomic location of the anterior pituitary gland.


Fibular hypoplasia

description: Underdevelopment of the fibula.


name: Infantile sensorineural hearing impairment

description: A form of sensorineural hearing impairment with infantile onset.


Vasa previa

description: Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally.


name: Activating thyroid-stimulating hormone receptor defect

description: Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.


name: Anti-thrombospondin type I domain-containing 7A antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thrombospondin type I domain-containing 7A.


name: Elevated circulating acetoacetic acid concentration

description: An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies.


name: Decreased CSF metanephrine concentration

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


name: Lymphocytic infiltration of the parotid gland

description: Accumulation of lymphocytes in the parotid gland. This feature is generally defined as a count of lymphocytes per area that is above normal limits on histopathological examination.


Juvenile gastrointestinal polyposis

description: The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.


Vestibular sensory seeking

description: Pursuit of vestibular stimulation that is abnormal in intensity and/or frequency.


name: Abnormal gonadotropin-releasing hormone concentration

description: A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH).


Unlayered lissencephaly

description: A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and gray matter.


Giant cell hepatitis

description: Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.


Salivary basal cell adenoma

description: A rare neoplasm consisting of a monomorphic population of basaloid epithelial cells, and it accounts for approximately 1-2% of all salivary gland tumors.


Mild intrauterine growth retardation

description: Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age.


name: Abnormal nervous system electrophysiology

description: An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.


Difficulty walking backward

description: Reduced ability to walk (ambulate) in a backwards direction.


name: Bullet-shaped middle phalanx of the 3rd finger

description: Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected.


Grandiose delusion

description: False beliefs relating to origin (aristocratic lineage, royal birth, being raised as a foster child), possessions (owning vast estates, castles, etc., which are withheld through intrigue), abilities (being great inventors, discoverers, artists, possessors of special wisdom, gifted with inspiration), and status (adviser to prominent diplomats, the true director of political destinies).


name: Reduced circulating leukotriene C4 concentration

description: An abnormally decreased concentration of leukotriene C4 in the blood circulation.


Tracheobronchomalacia

description: Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.


Postductal coarctation of the aorta

description: Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch.


name: Elevated circulating butyrylcarnitine concentration

description: Concentration of O-butyrylcarnitine in the blood circulation above the upper limit of normal.


Abnormal cardiac MRI

description: Abnormal results of a MRI for the heart.


Perioral eczema

description: A type of eczema that occurs in the lips and perioral area.


Positive Romberg sign

description: The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.


Abnormal bulbus cordis morphology

description: Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.


Infection-associated lymphopenia

description: Decreased lymphocyte count during infections.


Severe albuminuria

description: The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol).


Corner fracture of metaphysis

description: Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias.


name: Elevated CSF glial fibrillary acidic protein concentration

description: Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid.


Sclerosis of 5th finger phalanx

description: An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Placenta increta

description: Abnormal placental pentration into but not beyond the uterine wall.


Blistering by anatomical location

description: Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur.


Femoroacetabular impingement

description: Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.


name: Abnormality of the epiphysis of the femoral head

description: Any abnormality of the proximal epiphysis of the femur.


name: Ivory epiphysis of the proximal phalanx of the 2nd finger


Hypolysinemia

description: A decreased amount of lysine in the blood.


Giant melanosomes in melanocytes

description: The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.


name: Increased neuronal autofluorescent lipopigment

description: Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.


name: Hypointensity of cerebral white matter on MRI

description: A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.


Focal lissencephaly

description: A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.


Abnormal cerebellar peduncle morphology

description: An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.


Incomplete unilateral cleft lip

description: Unilateral cleft lip cleft that starts from the bottom of the upper lip but does not reach the nasal cavity.


Hostility

description: Persistent or frequent feelings of anger; anger or irritability in response to minor slights and insults.


Persistent patent ductus venosus

description: Persistence of blood flow through the ductus venosus for longer than the normal time after birth.


name: Elevated circulating 3-methylhistidine concentration

description: Abnormal increase of the concentration of 3-methylhistidine in the blood circulation.


Ivory epiphyses of the 5th finger

description: Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


name: Anti-Su antigen/argonaute 2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2.


name: Bullet-shaped middle phalanx of the 2nd finger

description: Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected.


Positive perchlorate discharge test

description: An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid.


name: Abnormal platelet dense granule secretion

description: Abnormal release of dense granules from platelets.


Spinal meningeal diverticulum

description: An outpouching of the spinal meninges.


name: Anti-Kelch like protein 12 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12.


Pancreatic atrophy

description: Wasting (shrinking) of the pancreas.


Abnormality of the foot musculature

description: An anomaly of the musculature of foot.


Abnormality of the female genitalia

description: Abnormality of the female genital system.


Chronic colitis

description: A chronic inflammatory disease of the large intestine (colon, cecum and rectum).


Hypoglutamatemia

description: A decreased amount of glutamate in the blood.


schwannoma

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


Cutaneous abscess

description: A circumscribed area of pus or necrotic debris in the skin.


Curved 5th toe phalanx

description: A deviation from the normal straight form of one or more phalanges of the fifth toe.


name: Abnormal circulating free T4 concentration

description: A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects.


Mesangial cell loss

description: Loss of mesangial cells segmentally or globally.


Subcortical dementia

description: A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.


Single-lobed right lung

description: A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes.


name: Patchy reduction of bone mineral density

description: Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Perineal hypospadias

description: Hypospadias with location of the urethral meatus in the perineal region.


Abnormal blood glucose concentration

description: An abnormality of the concentration of glucose in the blood.


Abnormal CSF dopamine concentration

description: Abnormal concentration of dopamine in the cerebrospinal fluid (CSF).


External genital hypoplasia

description: Underdevelopment of part or all of the external reproductive organs.


Coronary arteriovenous fistula

description: An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation.


Small distal femoral epiphysis

description: Reduced size of the Distal epiphysis of femur.


Increased hemoglobin oxygen affinity

description: An abnormal increase in the binding affinity of hemoglobin for oxygen.


Glomerular lipoprotein thrombus

description: Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections.


chondrodysplasia punctata

description: A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.


Thin fingernail

description: Fingernail that appears thin when viewed on end.


Decreased urinary 1-methylhistidine

description: Decreased concentration of 1-methylhistidine in the urine.


name: Abnormal glomerular basement membrane texture

description: Anomalous appearance or structure of the surface of the glomerular basement membrane.


Overriding atrioventricular valve

description: An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.


Soft, doughy skin

description: A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.


Narrow internal auditory canal

description: Reduction in diameter of the internal auditory canal.


Open operculum

description: Underdevelopment of the operculum.


carotid body paraganglioma

description: A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck.


description: The presence of autoantibodies in the serum that react to RNA-polymerase III.


name: Increased proportion of CD4-positive T cells

description: An elevation in the proportion of CD4-positive T cells relative to the total number of T cells.


name: Abnormality of the epiphyses of the 4th finger

description: Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger.


Underdeveloped nasolabial fold

description: Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure).


name: Contracture of the proximal interphalangeal joint of the 4th finger

description: Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


Tissue ischemia

description: Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion.


description: A type of ichthyosiform erythroderma with postnatal onset.


name: Increased circulating octadecanoate level

description: An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid).


Abnormal musculoskeletal physiology

description: An abnormality of the function of the skeletal system.


isolated cloverleaf skull syndrome

description: Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation.


name: Focal motor seizure with negative myoclonus

description: A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure.


Limb undergrowth

description: Limb shortening because of underdevelopment of one or more bones of the extremities.


posterior urethral valve

description: Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO) and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying.


Late-onset proximal muscle weakness

description: Lack of strength of the proximal musculature occurring late in the clinical course.


name: Abnormal circulating isoleucine concentration

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


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

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.


Delayed speech and language development

description: A degree of language development that is significantly below the norm for a child of a specified age.


C1-C2 vertebral abnormality

description: Any abnormality of the atlas and the axis.


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.


Upper limb pain

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


acroosteolysis

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


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.


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


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.


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.


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.


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.


Abnormal systemic arterial morphology

description: An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.


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.


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.


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.


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.


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.


Diamond-Blackfan anemia 12

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


name: mu-type opioid receptor isoform m5 (mouse)

description: A mu-type opioid receptor (mouse) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P42866-5.


name: FAD-linked sulfhydryl oxidase ALR isoform h2 (human)

description: An FAD-linked sulfhydryl oxidase ALR (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55789-2.


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.)


diacylglycerol lipase-alpha

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


name: diacylglycerol lipase-alpha isoform 1 (mouse)

description: A diacylglycerol lipase-alpha isoform 1 that is encoded in the genome of mouse.


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.


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.


name: cystathionine gamma-lyase cysteinylated 1 (human)

description: A cystathionine gamma-lyase (human) that has been cysteinylated on the residue at the position equivalent to Cys-109 of the amino acid sequence represented by UniProtKB:P32929-1. Example: UniProtKB:P32929-1, Cys-109, MOD:00765.


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: Ductal Eccrine Carcinoma with Abundant Fibromyxoid Stroma

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


metabotropic glutamate receptor 4

A metabotropic glutamate receptor protein that is a translation product of the human GRM4 gene or a 1:1 ortholog thereof.


name: metabotropic glutamate receptor 4 isoform h4 (human)

description: A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-4.


name: metabotropic glutamate receptor 4 isoform h1 (human)

description: A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-1.


name: metabotropic glutamate receptor 4 isoform h2 (human)

description: A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-2.


name: metabotropic glutamate receptor 4 isoform h3 (human)

description: A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-3.


name: metabotropic glutamate receptor 4, signal peptide removed form (human)

description: A metabotropic glutamate receptor 4 (human) that has had the signal peptide removed. UniProtKB:Q14833, 33-912.


name: metabotropic glutamate receptor 4 isoform h5 (human)

description: A metabotropic glutamate receptor 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14833-5.


name: Grade 2 Cervix Infection with Normal Absolute Neutrophil Count or Grade 1 or 2 Neutrophils, CTCAE


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: retinol dehydrogenase 5 sequence variant A294P (human)

description: A retinol dehydrogenase 5 (human) that has a Pro residue at the position equivalent to Ala-294 of the amino acid sequence represented by UniProtKB:Q92781. UniProtKB:Q92781, Ala-294, CHEBI:50342.


name: G-protein coupled receptor family C group 5 member D isoform h3 (human)

description: A G-protein coupled receptor family C group 5 member D (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NZD1-3.


name: G-protein coupled receptor family C group 5 member D isoform h1 (human)

description: A G-protein coupled receptor family C group 5 member D (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NZD1-1.


name: G-protein coupled receptor family C group 5 member D isoform 2 (human)

description: A G-protein coupled receptor family C group 5 member D isoform 2 that is encoded in the genome of human.


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.


name: transcriptional enhancer factor TEF-4 isoform h1 (human)

description: A transcriptional enhancer factor TEF-4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q15562-1.


name: Grade 2 Lip or Perioral Infection Documented Clinically or Microbiologically with Grade 3 or 4 Neutrophils, CTCAE


name: oxidized purine nucleoside triphosphate hydrolase

description: A protein that is a translation product of the human NUDT1 gene or a 1:1 ortholog thereof.


name: oxidized purine nucleoside triphosphate hydrolase isoform hp18 (human)

description: An oxidized purine nucleoside triphosphate hydrolase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P36639-4.


name: oxidized purine nucleoside triphosphate hydrolase isoform hp21 (human)

description: An oxidized purine nucleoside triphosphate hydrolase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P36639-3.


name: oxidized purine nucleoside triphosphate hydrolase isoform hp22 (human)

description: An oxidized purine nucleoside triphosphate hydrolase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P36639-2.


name: oxidized purine nucleoside triphosphate hydrolase isoform hp26 (human)

description: An oxidized purine nucleoside triphosphate hydrolase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P36639-1.


name: dual specificity tyrosine-phosphorylation-regulated kinase 2 ubiquitinated form (human)

description: A dual specificity tyrosine-phosphorylation-regulated kinase 2 (human) that includes at least one ubiquitinated lysine. UniProtKB:Q92630, MOD:01148.


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.)


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.


Grade 3 Gastric Perforation, CTCAE

description: Invasive intervention indicated


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.


name: Rho-associated protein kinase 1 isoform 1 unmodified form (human)

description: A Rho-associated protein kinase 1 isoform 1 unmodified form in human.


name: Rho-associated protein kinase 1 deaminated 1 (human)

description: A Rho-associated protein kinase 1 (human) that has been deaminated on the residue at the position equivalent to Gln-787 of the amino acid sequence represented by UniProtKB:Q13464. UniProtKB:Q13464, Gln-787, MOD:00685.


name: Rho-associated protein kinase 1, initiator methionine removed form (human)

description: A Rho-associated protein kinase 1 (human) that has had the initiator methionine removed. UniProtKB:Q13464, 2-1354.


name: Rho-associated protein kinase 1 deaminated 2 (human)

description: A Rho-associated protein kinase 1 (human) that has been deaminated on the residue at the position equivalent to Asn-644 of the amino acid sequence represented by UniProtKB:Q13464. UniProtKB:Q13464, Asn-644, MOD:00684.


name: Rho-associated protein kinase 1 isoform 1 (human)

description: A Rho-associated protein kinase 1 isoform 1 that is encoded in the genome of human.


name: Rho-associated protein kinase 1 isoform 1 cleaved 1 (human)

description: A Rho-associated protein kinase 1 isoform 1 cleaved 1 in human. UniProtKB:Q13464-1, 1-1113.


name: Rho-associated protein kinase 1 phosphorylated 1 (human)

description: A Rho-associated protein kinase 1 (human) that has been phosphorylated on the residue at the position equivalent to Ser-1301 of the amino acid sequence represented by UniProtKB:Q13464. UniProtKB:Q13464, Ser-1301, MOD:00046.


Grade 5 Kidney Anastomotic Leak, CTCAE

description: Death


name: cholesterol 7-alpha-monooxygenase isoform 1 (rat)

description: A cytochrome P450 7A1 isoform 1 that is encoded in the genome of rat.


name: atrial natriuretic peptide receptor 1, signal peptide removed form (human)

description: An atrial natriuretic peptide receptor 1 (human) that has had the signal peptide removed. UniProtKB:P16066, 33-1061.


Joubert syndrome 20

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


name: lysosomal protective protein deaminated 2 (human)

description: A lysosomal protective protein (human) that has been deaminated on the residue at the position equivalent to Gln-380 of the amino acid sequence represented by UniProtKB:P10619-1. Example: UniProtKB:P10619-1, Gln-380, MOD:00685.


name: glucocorticoid receptor isoform hAlpha-D3 (human)

description: A glucocorticoid receptor (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P04150-16.


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.


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.


Grade 2 Spinal Fracture, CTCAE

description: Moderate back pain; prescription analgesics indicated; limiting instrumental ADL


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


name: Grade 2 Upper Extremity Vein Intra-Operative Injury, CTCAE


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)