Impaired pain sensation

description: Reduced ability to perceive painful stimuli.


anaphylaxis

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

description: An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting.


name: Premature closure of the ductus arteriosus

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

description: A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery).


Liver hamartoma

description: A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the liver.


name: Abnormal circulating eicosanoid concentration

description: Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid).


pulmonary valve insufficiency

description: Dysfunction of the pulmonary valve characterized by incomplete valve closure.


Conical incisor

description: An abnormal conical morphology of the incisor tooth.


Abnormal CSF tyrosine concentration

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


Paratracheal lymphadenopathy

description: Enlargement of lymph nodes surrounding the trachea.


Abnormal hair whorl

description: An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).


name: Medial calcification of medium-sized arteries

description: Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.


Episodic abdominal pain

description: An intermittent form of abdominal pain.


Waddling gait

description: Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.


name: Partial duplication of the distal phalanx of the hallux


Increased CSF leucine concentration

description: Abnormally increased levels of leucine in cerebrospinal fluid.


Decreased CSF valine concentration

description: Any decreased amount from normal of valine in the cerebrospinal fluid.


Nezelof syndrome

description: Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.


Agenesis of putamen

description: A developmental defect characterized by the absence of the putamen owing to its failure to develop.


Decreased urinary urate

description: Decreased concentration of urate in the urine.


Hypodysplasia of the corpus callosum

description: Developmental defect characterized by a small and malformed corpus callosum.


Neonatal multifocal myoclonic seizure

description: Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at multiple sites.


Secondary vesicoureteral reflux

description: Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction.


Axonal degeneration/regeneration

description: A pattern of simultaneous degeneration and regeneration of axons (see comment).


Elevated brain choline level by MRS

description: An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).


Renal intimal/medial arteriolitis

description: Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural.


Hyperchloriduria

description: An increased concentration of chloride in the urine.


Uric acid crystalluria

description: The presence of uric acid crystals in the urine.


congenital afibrinogenemia

description: Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.


Increased CSF ornithine concentration

description: Abnormally increased levels of ornithine in cerebrospinal fluid.


Trichodiscoma

description: A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.


Madelung deformity

description: Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.


Ovarian serous cystadenoma

description: A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.


name: Univentricular heart with absent left sided atrioventricular connection


Reduced bone mineral density

description: A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.


name: Renal arteriole neutrophil endoarterial hypercellularity

description: A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen.


Pustule

description: A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.


name: Impaired stimulus-induced skin wrinkling

description: A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth).


Abnormal upper lip morphology

description: An abnormality of the upper lip.


name: Triangular epiphysis of the proximal phalanx of the 3rd toe


Double inlet right ventricle

description: The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.


proximal symphalangism

description: Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.


Spontaneous neonatal pneumothorax

description: Pneumothorax occurring neonatally without traumatic injury to the chest or lung.


right aortic arch

description: An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided.


name: Decreased left ventricular end-diastolic volume

description: Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole).


motor neuron disorder

description: A disease involving the motor neuron.


name: Bilateral tonic-clonic seizure with generalized onset

description: A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.


name: Focal aware autonomic seizure with urge to urinate/defecate

description: A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure.


Abnormal motivation

description: Behavioral patterns and/or energy/activity levels that are statistically uncommon within a particular culture, maladaptive, and result in personal distress and impairment in the individual's functioning.


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


Abnormal corpus striatum morphology

description: Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.


Bullet-shaped 1st metatarsal

description: An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction.


Hypoesthesia

description: Decreased ability to perceive touch.


Plantar telangiectasia

description: Telangiectases (small dilated blood vessels) located on the skin of sole of foot.


Focal cortical dysplasia

description: A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.


Humeral exostoses

description: Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.


Tonic status epilepticus

description: Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal.


name: Aplasia/Hypoplasia of the distal phalanx of the hallux


name: Monoclonal light chain cardiac amyloidosis

description: A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.


Chronic hepatitis

description: Hepatitis that lasts for more than six months.


name: Cone-shaped epiphysis of the middle phalanx of the 2nd toe


name: Status epilepticus with prominent motor symptoms

description: Status epilepticus with prominent motor signs during the prolonged seizure.


name: Stippling of the epiphyses of the 4th toe

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe.


name: Osteolytic defects of the distal phalanx of the hallux


Hypoperistalsis

description: Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.


Fallopian tube cyst

description: A fluid filled sac located in the Fallopian tube.


Focal seizure with eyelid myoclonia

description: Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.


EEG with temporal focal spikes

description: EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region.


name: Criss-cross atrioventricular valves with superior-inferior ventricles

description: Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side.


name: Superior-inferior ventricles without criss-cross atrioventricular valves


Lipomeningocele

description: A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life.


Euphoria

description: Euphoria is a feeling of intense joy, happiness, excitement, or elation that surpasses what would typically be anticipated in a given situation.


name: Abnormality of the dorsal column of the spinal cord

description: An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.


Penoscrotal hypospadias

description: A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.


EEG with focal sharp waves

description: EEG with focal sharp transient waves of a duration between 80 and 200 msec.


plexiform neurofibroma

description: An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)


Fatigable weakness

description: A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


Head tremor

description: An unintentional, oscillating to-and-fro muscle movement affecting head movement.


name: Cortical peritubular capillary intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney.


Abnormal umbilical stump bleeding

description: Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.


peripheral nervous system disorder

description: A disease involving the peripheral nervous system.


Delayed ability to sit

description: A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.


name: Bracket epiphysis of the middle phalanx of the 3rd toe


Progressive microcephaly

description: Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.


Chronic lymphocytic meningitis

description: Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).


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


name: Cone-shaped epiphysis of the distal phalanx of the 4th toe


Abnormality of the inner ear

description: An abnormality of the inner ear.


Socially inappropriate questioning

description: A tendency to ask questions that are overly personal or otherwise inappropriate in the social situation in which they are asked.


Tongue telangiectasia

description: Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.


Shark teeth

description: Eruption of permanent teeth behind deciduous (baby) teeth before they have fallen out, resulting in a double row of teeth. This phenomen is typically observed between the ages of 5 to 7 years.


Enlarged uterus

description: An increase in the overall dimensions or volume of the uterus compared to normal.


Bullet-shaped toe phalanx

description: An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Short nail

description: Decreased length of nail.


name: Ductus venosus agenesis with extrahepatic drainage and liver bypass

description: A form of ductus venosus agenesis in which umbilical vein does not connect to the portal venous system. The liver is bypassed and the umbilical vein drains into a systemic vein such as the inferior vena cava. This variant has been reported to have an unfavorable prognosis due to a presumed association with congestive heart failure and hydrops.


Unicornuate uterus

description: A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.


Mesangial hypercellularity

description: Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.


bronchial neoplasm

description: Tumors or cancer of the bronchi.


Hyperplastic colonic polyposis

description: Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.


Cloudy urine

description: The appearance of the urine having visible material in suspension, i.e., appearing cloudy.


Absent left main coronary artery

description: The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava.


Palmoplantar cutis laxa

description: Loose, wrinkled skin of hands and feet.


Waxy casts

description: A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts.


Kinked brainstem

description: A kinked appearance of the brainstem, i.e., an exaggerated flexure.


name: Diffusely thickened glomerular basement membrane

description: Prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.


Abnormal amygdala morphology

description: A structural anomaly of the amygdala.


aneurysmal bone cyst

description: A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage.


Facial neoplasm

description: A tumor (abnormal growth of tissue) of the face.


Cerebellar vermis hypoplasia

description: Underdevelopment of the vermis of cerebellum.


Submucous cleft soft palate

description: A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.


Cutaneous wound

description: A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occurs owing to an injury of the skin. Wound healing is a dynamic, interactive process involving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time.


Septate gallbladder

description: Septate gallbladder is characterized by the presence of a septum that divides the gallbladder in two chambers. When the septum dividing the gallbladder lies longitudinally it is called bilobed gallbladder and when there is a transverse septum separating the fundus from the rest of the gallbladder it is called an hour-glass gallbladder.


name: Abnormality of the epiphyses of the 5th toe


name: Confluent hypointensity of cerebral white matter on MRI


Delayed talus ossification

description: Delayed maturation and calcification of the talus.


enthesitis

description: Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone.


description: Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body.


Fractured rib

description: A partial or complete breakage of the rib.


name: Abnormality of the brachial nerve plexus

description: Any abnormality of the brachial nerve plexus.


Spinal hypomyelination

description: Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis.


Abnormality of the anus

description: Abnormality of the anal canal.


porencephaly

description: Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric gray matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly.


name: Stippling of the epiphysis of the proximal phalanx of the hallux

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux.


Abnormal cartilage morphology

description: Any morphological abnormality of cartilage.


Hamartomatous stomach polyps

description: Polyp-like protrusions which are histologically hamartomas located in the stomach.


Hypervigilance

description: A heightened alertness is characterized by a broad awareness and/or excessive scanning of environmental stimuli.


Venous occlusion

description: Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.


Podocyte foot process effacement

description: An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.


Echogenic intracardiac focus

description: A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart.


Podocyte hypertrophy

description: Increased visceral epithelial cell size, with or without cytoplasmic protein droplets.


Tubulointerstitial fungal infiltration

description: Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains.


name: Fractured proximal epiphysis of middle phalanx of manual digit 3

description: A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3.


Intracranial arterial calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).


Abnormal thalamic size

description: Deviation from the normal range of size of the thalamus.


malignant hyperthermia of anesthesia

description: A pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gasses such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.


Ski jump nail

description: Nails that slope upward at the free edge.


Premature occlusive vascular stenosis

description: Peripheral arterial stenosis with onset before the age of 50 years.


Abnormal ductus choledochus morphology

description: An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.


Abnormal plantar dermatoglyphics

description: An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.


Steppage gait

description: An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.


Microdontia of primary teeth

description: Decreased size of the primary teeth.


hypophosphatemia

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


Abnormal scrotal rugation

description: Anomaly of the folded ridges (wrinkles) of skin of the scrotum.


name: Focal cognitive seizure with auditory agnosia

description: A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.


agraphia

description: An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.


Cerebral venous sinus thrombosis

description: An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses.


Right ventricular hypertrophy

description: In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.


Biliary epithelial hyperplasia

description: Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen.


Intralobar nephroblastomatosis

description: Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it).


name: Febrile seizure outside the age of 3 months to 6 years

description: Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure.


Abnormal glucose homeostasis

description: Abnormality of glucose homeostasis.


Delayed onset bleeding

description: Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours.


Lingual dystonia

description: Involuntary protrusions, movements, spams and contortions of the tongue.


Basal ganglia edema

description: Swelling within the basal ganglia due to the accumulation of fluid.


Foot oligodactyly

description: A developmental defect resulting in the presence of fewer than the normal number of toes.


Abnormal hindbrain morphology

description: An abnormality of the hindbrain, also known as the rhombencephalon.


amenorrhea

description: The absence of menses in a woman who has achieved reproductive age.


pericardial effusion

description: Fluid collection within the pericardial sac, usually due to inflammation.


Fractured fused sacrum

description: A partial or complete breakage of the fused sacrum.


Subclavian artery stenosis

description: Abnormal narrowing of the subclavian artery.


name: High renal tubular epithelial cell N/C ratio

description: At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei.


Disseminated cutaneous warts

description: Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.


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.


alopecia totalis

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.


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.


Focal bilateral motor seizure

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


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.


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.


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.


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.


name: Absent sperm axoneme central pair complex

description: Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern.


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.


hemopericardium

description: An accumulation of blood within the pericardial sac.


Euthyroid goiter

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


Poliosis

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


Fractured mandible

description: A partial or complete breakage of the mandible.


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: Decreased amplitude of sensory action potentials

description: A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.


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.


bone giant cell tumor

description: A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint.


Ectopic anterior pituitary gland

description: Abnormal anatomic location of the anterior pituitary gland.


name: Increased urinary high-mannose-type oligosaccharide

description: An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine.


name: Infantile sensorineural hearing impairment

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


Cervical cord compression

description: Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.


B Acute Lymphoblastic Leukemia

description: A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.


name: Decreased CSF metanephrine concentration

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


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.


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.


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.


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.


Hydropic placenta

description: An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.


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.


Premature chromatid separation

description: The presence of premature sister chromatid segregation.


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.


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).


name: Elevated CSF glial fibrillary acidic protein concentration

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


Striae distensae

description: Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.


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.


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.


name: Modic type III vertebral endplate changes

description: An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs.


Persistent patent ductus venosus

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


Shawl scrotum

description: Superior margin of the scrotum superior to the base of the penis.


Elevated urinary sulfatide level

description: The amount of sulfatides in the urine, normalized for urine concentration, is above the upper limit of normal. Sulfatides are derived from GalCer via esterification of a sulfate group to 3-hydroxyl of the galactose moiety.


Parakeratosis

description: Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.


Spinal meningeal diverticulum

description: An outpouching of the spinal meninges.


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).


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.


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.


Perineal hypospadias

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


Red urine

description: An abnormal red color of the urine.


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.


Glomerular lipoprotein thrombus

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


Decreased urinary bile acid level

description: The amount of bile acids in the urine, normalized for urine concentration, is below the lower limit of normal.


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.


Fetal distress

description: An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.


Soft, doughy skin

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


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.


Premature birth

description: The birth of a baby of less than 37 weeks of gestational age.


congenital mitral valve insufficiency

description: Dysfunction of the mitral valve characterized by incomplete valve closure.


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).


Ureteral agenesis

description: Failure of the ureter to undergo development.


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.


Mild global developmental delay

description: A mild delay in the achievement of motor or mental milestones in the domains of development of a child.


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.


Apnea

description: Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.


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.


Abnormal rectum morphology

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


Irregularly spaced teeth

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


acroosteolysis

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


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


Elevated urinary catecholamine level

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


Rectal duplication

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


name: Interlobular vein intima/media amyloidosis

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


Porphyrinuria

description: Abnormally increased excretion of porphyrins in the urine.


name: Amplification of interpersonal communication

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


name: Focal aware motor seizure with negative myoclonus

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


Abnormal 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).


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


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

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


Abnormal hepatocyte morphology

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


cystinuria

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


Colonic varices

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


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.


Adrenal hyperplasia

description: Enlargement of the adrenal gland.


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


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.


name: Fractured epiphysis of fourth metacarpal bone

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


camptodactyly of fingers

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


Seminal vesicle hypoplasia

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


name: Multiple pulmonary interstitial hyalinized nodules

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


Glomerular karyhorrhectic debris

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


Abnormal shoulder physiology

description: Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm.


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.


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.


Fractured middle phalanx of manus

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


decubitus ulcer

description: Death of tissue due to external pressure.


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.


palmoplantar keratosis

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


Abnormality of the tarsal bones

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


Small superior frontal cortex

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


Tachycardia

description: A rapid heartrate that exceeds the range of the normal resting heartrate for age.


Intestinal fistula

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


Podocyte microvillous transformation

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


Reduced CSF methionine concentration

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


Frontal cortical atrophy

description: Atrophy of the frontal cortex.


Apocrine hidrocystoma

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


name: Anomalous hepatic venous drainage into the left atrium

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


name: Elevated urinary ureidoisobutyric acid level

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


neutrophil actin dysfunction

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


Storage in hepatocytes

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


Infra-aortic superior vena cava

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


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


Abnormality of adrenal physiology

description: A functional abnormality of the adrenal glands.


Recurrent bronchitis

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


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.


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.


Multiple lentigines

description: Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.


Neurite dystrophy

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


Secondary Caesarian section

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


name: 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.


hyperreflexia

description: An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.


Fulminant hepatitis

description: Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.


anuria

description: Absence of urine output.


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.


Flatulence

description: Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating.


Feculent vomiting

description: Vomiting of material that is of fecal origin.


Diamond-Blackfan anemia 12

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


name: Stage IIIA Gestational Trophoblastic Tumor AJCC v7

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


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.


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.


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: 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.


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.


ehrlichiosis

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


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.


response to 11-deoxycorticosterone

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

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


response to mineralocorticoid

description: Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mineralocorticoid stimulus. Mineralocorticoids are hormonal C21 corticosteroids synthesized from cholesterol and characterized by their similarity to aldosterone. Mineralocorticoids act primarily on water and electrolyte balance.


response to aldosterone

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


name: cellular response to mineralocorticoid stimulus

description: Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mineralocorticoid stimulus. Mineralocorticoids are hormonal C21 corticosteroids synthesized from cholesterol and characterized by their similarity to aldosterone. Mineralocorticoids act primarily on water and electrolyte balance.


name: cellular response to corticosterone stimulus

description: Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a corticosterone stimulus. Corticosterone is a 21 carbon steroid hormone of the corticosteroid type, produced in the cortex of the adrenal glands. In many species, corticosterone is the principal glucocorticoid, involved in regulation of fuel metabolism, immune reactions, and stress responses.


response to corticosterone

description: Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a corticosterone stimulus. Corticosterone is a 21 carbon steroid hormone of the corticosteroid type, produced in the cortex of the adrenal glands. In many species, corticosterone is the principal glucocorticoid, involved in regulation of fuel metabolism, immune reactions, and stress responses.


name: cellular response to 11-deoxycorticosterone

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


cellular response to aldosterone

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


Joubert syndrome 20

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


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.


Locally Advanced Endometrial Carcinoma

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


name: Locally Advanced Endometrial Adenocarcinoma

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


name: Locally Advanced Unresectable Endometrial Carcinoma

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


name: Locally Advanced Endometrial Endometrioid Adenocarcinoma

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


Stage IVB Thymoma AJCC v8

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


name: Stage IVB Thymic Epithelial Neoplasm AJCC v8


pediatric cerebral ependymoblastoma

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


name: childhood cerebellar astrocytic neoplasm

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


name: supratentorial ependymoma, ZFTA fusion–positive

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


childhood brainstem astrocytoma

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


proneural glioblastoma

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


name: pineal parenchymal tumor of intermediate differentiation

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


desmoplastic infantile astrocytoma

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


astroblastoma

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


IDH-mutant anaplastic astrocytoma

description: An anaplastic astrocytoma carrying IDH mutations.


melanotic neuroectodermal tumor

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


desmoplastic infantile ganglioglioma

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


extraventricular neurocytoma

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


papillary glioneuronal tumor

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


name: melanotic psammomatous malignant peripheral nerve sheath tumor

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


tanycytic ependymoma

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


cerebral neuroblastoma

description: A neuroblastoma arising from the cerebral hemispheres.


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

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


anaplastic astrocytoma

description: Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord.


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.