Structural foot deformity

A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.


Mediastinal mass

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A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).


Abnormality of the proximal radial epiphysis

Any abnormality of the proximal epiphysis of the radius.


Abnormality of dermal melanosomes

An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis).


Anti-angiotensin receptor type-1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1.


Anterior displacement of the papillary muscles

Abnormally anterior location of the papillary muscles of the left ventricle.


Pulmonary arterial atherosclerosis

Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery.


Contracture of the proximal interphalangeal joint of the 5th finger

Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


heart cancer

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

A malignant neoplasm involving the heart


Contracture of the distal interphalangeal joint of the 2nd finger

Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.


Abnormality of the vitamin B3 metabolism


Aplasia/Hypoplasia of the middle phalanx of the 5th finger

Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger.


Abnormality of external jugular vein

An abnormality of an external jugular vein of the neck.


Subcutaneous calcification

Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).


Abnormal distal phalanx morphology of finger

Any anomaly of distal phalanx of finger.


Hypohomocysteinemia

A decreased concentration of homocysteine in the blood.


Onycholysis of distal fingernails

Detachment of the distal fingernails from the nail bed.


Inguinal freckling

The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.


Macrodontia

Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.


Increased level of D-threitol in urine

An increase in the level of D-threitol in the urine.


Short distal phalanx of the thumb

Hypoplastic (short) distal phalanx of the thumb.


hemoglobin H disease

Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia.


Complete duplication of the middle phalanx of the 2nd finger

Complete duplication of the middle phalanx of index finger.


C1-C2 subluxation

A partial dislocation of the atlantoaxial joints.


Glomerular crescent formation

Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin.


Short proximal phalanx of the 4th toe

Developmental hypoplasia of the proximal phalanx of fourth toe.


Fungi allergy

Hypersensitivity in form of an adverse immune reaction against fungus.


Short 4th finger

Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger.


Polymelia

Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis).


Increased myocardial pyrophosphate uptake

Amount of pyrophosphate uptake by the myocardium as demonstrated by by technetium pyrophosphate (99mTc-PYP) scintigraphy above the upper limit of normal.


Triangular epiphysis of the middle phalanx of the 4th finger

A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Paraspinal hemangioma

A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine.


Mottled pigmentation of the trunk and proximal extremities


Autophagia

The habitual action of inflicting pain upon oneself by biting and/or devouring portions of one's body.


Eosinophilic ascites

A type of ascites in which there are large numbers of eosinophils in the ascitis fluid.


Focal aware emotional seizure with pleasure

Focal emotional seizure with pleasure in which awareness is retained throughout.


Coronary artery calcification

An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.


Osteolytic defects of the distal phalanx of the 5th toe


Abnormal blood vessel morphology

Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).


Atretic gallbladder

Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.


Recurrent thrombophlebitis

Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).


White hair

Hypopigmented hair that appears white.


Antilactoferrin antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin.


Mucinous histiocytosis

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


Midclavicular hypoplasia

Underdevelopment of the middle portion of the clavicle.


Increased serum testosterone level

An elevated circulating testosterone level in the blood.


Open bite

Visible space between the dental arches in occlusion.


Abnormal circulating complement factor H related protein 1 concentration

A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1)


Generalized periodontitis

A generalized form of periodontitis.


Cytoplasmic antineutrophil antibody positivity

The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.


Abnormal CSF alpha-aminobutyrate concentration

Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid.


Abnormal platelet phosphatidylserine exposure

An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement.


Transient decreased circulating IgG3

A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation.


Abolished vibration sense

A complete loss of the ability to perceive vibration.


Resting tremor

A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.


Aplasia/Hypoplasia of the biceps

Absence or underdevelopment of the biceps muscle.


Difficulty recognizing another's emotions


polyostotic fibrous dysplasia

Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome.


Abnormal cerebral white matter morphology

An abnormality of the cerebral white matter.


Decreased sensory nerve conduction velocity

Reduced speed of conduction of the action potential along a sensory nerve.


Agraphesthesia

Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination).


Aplasia of the pectoralis major muscle

Absence of the pectoralis major muscle.


Abnormal circulating proline concentration

Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.


Stippling of the epiphysis of the middle phalanx of the 5th finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger.


Abulia

Abulia is a severe form of apathy, characterized by difficulty in initiating and sustaining spontaneous movements, as well as reductions in emotional responsiveness, spontaneous speech, and social interaction.


Bronchocele

A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion.


Focal impaired awareness orofacial automatism seizure

A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset.


Left ventricular outflow tract obstruction

Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.


Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger

Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger.


Bicuspid aortic valve with right-noncoronary cusp fusion

A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure.


High myoinositol in brain by MRS

An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS).


Increased CSF tryptophan concentration

Abnormally increased levels of tryptophan in cerebrospinal fluid.


Autophony

Hearing one's own voice resonating loudly in the ear.


Chiari malformation type I

Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.


Abnormal CSF aspartate family amino acid concentration

Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid.


Stippling of the epiphysis of the distal phalanx of the hallux

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


Abnormal ascending aorta morphology

Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.


Increased annexin V binding to platelet phosphatidylserine

Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.


Oligoclonal elevation of circulating IgE

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


Triangular shaped distal phalanx of the 5th toe


Renal interstitial IgG4+ plasma cell infiltration

An increased number of IgG4+ plasma cells in the interstitial space of the kidney.


Abnormal third toe morphology

An anomaly of the third toe.


Aplasia/Hypoplasia of the 5th finger

A small/hypoplastic or absent/aplastic 5th finger.


Osteolytic defects of the phalanges of the 3rd finger

Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger.


Mitten deformity

Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity.


Exercise-induced asthma

Asthma attacks following exercise.


Stippling of the epiphysis of the proximal phalanx of the 5th finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger.


T lymphocytopenia

An abnormally low count of T cells.


Osteolytic defects of the distal phalanx of the 5th finger

Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger.


Increased urine alpha-ketoglutarate concentration

A greater than normal concentration of 2-oxoglutaric acid in the urine.


Alexithymia

A deficit in emotional awareness is characterized by difficulties in recognizing and expressing feelings and emotions. This deficit manifests as a limited ability to respond to facial cues or other signs of emotions in others, often accompanied by detached connections to others.


Metatarsal fracture

A partial or complete breakage of a metatarsal bone.


Aplasia/Hypoplasia involving the central nervous system

Absence or underdevelopment of tissue in the central nervous system.


Supraventricular tachycardia with a manifest accessory pathway on the left free wall


Abnormal 5th metacarpal morphology

Any abnormality of the fifth metacarpal bone.


Low-grade vesicoureteral reflux

Vesicoureteral reflux without dilation of the renal calyces (Grade I-II).


Nevus psiloliparus

Nevus psiloliparus is a rare fatty tissue nevus that is a marker for encephalocraniocutaneous lipomatosis, a neurocutaneous syndrome with ocular and central nervous system anomalies. Clinically, nevus psiloliparus is often described as a congenital alopecia and appears as an irregularly shaped, circumscribed area of alopecia on the scalp. Histopathology demonstrates a near-complete absence of mature hair follicles with preservation of arrector pili muscles and mature adipocytes within the dermis.


Abnormal vestibulo-ocular reflex

An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.


nerve compression syndrome

Any nerve disorder caused by the entrapment and compression of a nerve.


Anomalous origin of the left common carotid artery from the brachiocephalic artery

The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery.


Physiological reactivity to cues

Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s).


Single trichilemmoma

Presence of a unitary trichilemmoma, a benign tumor originating from the outer root sheath of the hair follicle.


Focal impaired awareness hyperkinetic seizure

A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure.


Biventricular hypertrophy

Thickening of the heart walls in both ventricles.


Talipes equinovalgus

A deformity of foot and ankle in which the foot is bent down and outwards.


prosopagnosia

Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury.


Renal phosphate wasting

High urine phosphate in the presence of hypophosphatemia.


Hobby horse gait

An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward.


Stippling of the epiphyses of the 2nd finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger.


Fragmentation of thumb epiphysis

Epiphysis of the thumb having multiple bony fragments.


Aplasia/Hypoplasia of the midbrain

Absence or underdevelopment of the midbrain (mesencephalon).


Neonatal electro-clinical sequential seizure

Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.


Increased emotional expression

Heightened emotional behaviors like crying, laughter, and smiling compared to the individual's baseline.


Anti-muscle-specific tyrosine kinase antibody

The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab).


Talar aplasia

Absent talus owing to a congenital defect.


trophoblastic neoplasm

A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma.


Right atrial thrombus

A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart.


Reduced ratio of renal calcium clearance to creatinine clearance

A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.


Interstitial dermal edema

Accumulation of fluid in the interstitial spaces of the skin. This finding can be appreciated my microscopic examination of a skin biopsy.


hyperlipidemia, familial combined, LPL related

A disorder of lipoprotein metabolism characterized by high levels of cholesterol and triglycerides in the blood. It is caused by elevation of low density and very low density lipoproteins.


penile neoplasm

A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma.


Waldenstrom macroglobulinemia

Waldenstrom macroglobulinemia in a patient who has at least one first degree relative with either Waldenstrom macroglobulinemia or another B-cell lymphoproliferative disorder.


Peripheral axon spheroid formation

Axonal spheroids are bubble-like biological features that form on most degenerating axons.


Two carpal ossification centers present at birth


Abnormal pharynx morphology

A structural anomaly of the pharynx.


Abnormal cardiomyocyte mitochondrial morphology

An anomaly of the structure of mitochondria within cardiomyocytes.


Spastic paraparetic gait

A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait.


Verrucous papule

A wartlike (with multiple small elevated projections) papule.


Elevated circulating 3-hydroxyhexanoylcarnitine concentration

Concentration of 3-hydroxyhexanoylcarnitine (C6-OH) in the blood circulation above the upper limit of normal.


Recurrent cerebral hemorrhage

Recurrent bleeding into the parenchyma of the brain.


Increased serum bile acid concentration during pregnancy


Polycalycosis

Increased number of calices of the kidney.


Pericardial constriction

Compression of the heart caused by rigid, thickened, or fused pericardial membranes.


Pectus carinatum

A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.


Hopelessness

Excessive feelings of despair; an intense state of despair; an overwhelming lack of hope.


Dysplastic tricuspid valve

A congenital malformation of the tricuspid valve characterized by leaflet deformation.


pulmonary artery hypoplasia

Underdevelopment of the pulmonary artery.


Focal emotional seizure with paranoia

Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure.


Single atrioventricular valve regurgitation

Regurgitation of the single atrioventricular valve regurgitation (AVVR) in the context of a congenital heart defect with a single ventricle. Roughly three quarters of patients following Fontan procedure display AVVR.


Social Anxiety

Excessive fear of embarrassment, humiliation, or rejection when exposed to possible negative evaluation by others when engaged in a public performance or social interaction.


Increased CSF lactate

Increased concentration of lactate in the cerebrospinal fluid.


Abnormal second heart sound

Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration.


Camptodactyly of 2nd-5th fingers

The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.


Chronic acidosis

Longstanding abnormal acid accumulation or depletion of base.


Focal autonomic seizure

An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.


Abnormal urine hexanoylglycine concentration

Abnormal concentration of hexanoylglycine in the urine.


Psychotic mentation

A pattern of thinking and perceiving characterized by a loss of contact with reality, leading to significant changes in thoughts, perceptions, and behaviors.


Abnormal circulating phenylalanine concentration

Any deviation from the normal concentration of phenylalanine in the blood circulation.


Meconium peritonitis

Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications.


Gastrojejunal tube feeding in infancy

Feeding problem necessitating gastrojejunal tube feeding.


Increased urinary excretion of galactosyl hydroxylysine

An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption.


Tongue myxoma

A myxoma (benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation) localized in the tongue.


Intrathoracic hemangioma

A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region.


Thymic hormone decreased

A reduction in the level of thymic horomone.


EEG with centrotemporal epileptiform discharges

Focal epileptiform EEG discharges recorded in the centrotemporal region.


Moderate postnatal growth retardation

A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.


Anti-steroid 17alpha-hydroxylase antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase.


Episodic hypokalemia

An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes.


Yellow nails

Yellowish discoloration of the nails.


Increased circulating immature neutrophil count

An abnormally increased number of immature neutrophils in the peripheral blood circulation.


Unfavorable response of muscle weakness to acetylcholine esterase inhibitors

Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.


Hypertrophy of the urinary bladder

Abnormal enlargement of the urinary bladder.


Bilobed right lung

A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung.


Maintenance insomnia

Individuals affected by abnormal difficulty in staying asleep tend to wake up at night and struggle to return to sleep. This condition typically involves spending more than 30 minutes awake during the night.


Migratory erythematous plaque

A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin.


Focal emotional seizure with anger

Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour.


Subcortical cerebral atrophy

Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.


Abnormal B cell proliferation

Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population.


Abnormal Intonation

Abnormal rise and fall of the voice in speech and vocalization.


Abnormal pituitary gland morphology

An anomaly of the pituitary gland.


aspartylglucosaminuria

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).


Atrophic superior cerebellar peduncle

Atrophy of the superior cerebellar peduncle.


Contracture of the proximal interphalangeal joint of the 3rd finger

Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.


Masseter muscular weakness

Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw.


Flexion contracture of toe

One or more bent (flexed) toe joints that cannot be straightened actively or passively.


supratentorial cancer

Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation.


Focal aware clonic seizure

A type of focal clonic seizure during which awareness is fully retained throughout.


Ventricular escape rhythm

A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms).


Ivory epiphysis of the proximal phalanx of the 5th finger

Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Elevated circulating ribitol concentration

An increase above the normal concentration of ribitol in the blood.


Small finger

Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.


Fractured metacarpal bone of digit 1

A partial or complete breakage of the metacarpal bone of digit 1.


Hyperglutamatemia

Concentration of glutamate in the blood circulation above the upper limit of normal.


Hyperkinetic status epilepticus

Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements.


Fractured talus

A partial or complete breakage of the talus.


Large knee

Abnormally increased size of the knee joint.


Paroxysmal drowsiness

A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep


Tip variant segmental glomerulosclerosis

Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.


Curved middle phalanx of the 2nd finger

Curved appearance of the middle phalanx of the 2nd finger.


Oral melanoacanthoma

Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions.


Increased proportion of CD8-positive, alpha-beta memory T cells

An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


Decreased circulating thyroglobulin concentration

The concentration of thyroglobulin in the blood circulation is below the lower limit of normal.


Hypoproteinemic edema

An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia).


Delayed peripheral myelination

Delayed myelination in the peripheral nervous system.


paroxysmal dyskinesia

Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome).


Increased red blood cell mass

The presence of an increased mass of red blood cells in the circulation.


Abnormal uridine diphosphate glucose-4-epimerase level in plasma

An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


Abnormality of the epiphysis of the proximal phalanx of the 2nd toe


Upper limb muscle hypertrophy

Abnormal increase in muscle size and mass of one or both arms not due to training.


Fragmentation of the metacarpal epiphyses

Fragmented appearance of the epiphyses of the metacarpals.


Patchy sclerosis of 5th toe phalanx

Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Generalized morning stiffness

A sensation of stiffness in the joints that occurs following waking up in the morning.


Patchy sclerosis of the distal phalanx of the 4th toe

Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Increased circulating creatine kinase MM isoform

An increased concentration of the MM isoform of creatine kinase in the blood circulation.


Regional abnormality of skin

An abnormality of the skin that is restricted to a particular body region.


Absent Achilles reflex

Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.


Abnormal basal ganglia MRI signal intensity

A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.


Temporal artery tortuosity

The presence of an increased number of twists and turns of the temporal artery.


Acute respiratory distress syndrome

Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300.


Hemihypotrophy of lower limb

Shortening of a leg affecting only one side.


Abnormal circulating amino sulfonic acid concentration


Abnormality of central motor conduction

Any anomaly of the conduction of motor nerve impulses in the central nervous system.


Absent pigmentation of the limbs

Lack of skin pigmentation (coloring) of the arms and legs.


Abnormal placenta morphology

An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.


Fractured epiphysis of third metacarpal bone

A partial or complete breakage of the epiphysis of third metacarpal bone.


Abnormal morphology of the radius

An abnormality of the radius.


Complete duplication of proximal phalanx of the thumb

Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Patchy sclerosis of thumb phalanx

An uneven increase in bone density of one or more of the phalanges of the thumb.


Eosinophilic liver infiltration

Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.


Isothenuria

Inability of the kidneys to produce either concentrated or dilute urine.


Reduced epidermal keratin protein expression

Amount of one or more keratins in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


Stippling of the epiphysis of the distal phalanx of the 4th finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger.


lysosomal storage disease with skeletal involvement


Irregular epiphysis of the middle phalanx of the 2nd finger


Metaphyseal spurs

Bony outgrowths that extend laterally from the margin of the metaphysis.


Absent epiphysis of the proximal phalanx of the hallux

Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux.


Contracture of proximal interphalangeal joints of 2nd-5th fingers

Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue.


Exostoses of hand bones

Abnormal formation of new bone on the surface of a bone of the hand.


Eyelid myoclonia seizure

An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness.


Torn oral frenulum

Laceration or tear of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip.


Osseous atresia of the external auditory canal


Vertebral arch anomaly

A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.


Hypophenylalaninemia

A decreased amount of phenylalanine in the blood.


Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation.


Anti-side-chain cleavage enzyme antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583).


Tachyphrenia

The sensation that thoughts are moving too quickly.


Peripheral hypomyelination

Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.


Duodenal stenosis

The narrowing or partial blockage of a portion of the duodenum.


Decreased proportion of central memory CD4-positive, alpha-beta T cells

A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Broad ischia

Increased width of the ischium, which forms the lower and back part of the hip bone.


angiosarcoma

A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma.


Abnormal meningeal morphology

An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.


Perivascular cardiac fibrosis

A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.


knuckle pads

Benign skin fibromas, typically occurring over the small joints of the hands and feet, that are associated with repetitive friction or pressure.


Increased circulating IgG2 level

An abnormally increased concentration of the IgG2 subtype in the blood circulation.


Small vessel vasculitis

A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.


Distal symphalangism of hands

The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.


Enlarged epiphyses of the 4th finger

Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms.


cryoglobulinemia

Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause.


Aplasia of the distal phalanx of the 3rd finger

Absence of the distal phalanx of the middle (3rd) finger.


Hypoplastic aortic arch

Underdevelopment of the arch of aorta.


Anti-neutrophil elastase antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase.


Symphalangism of middle phalanx of 5th finger

Fusion of the middle phalanx of the 5th finger with another bone.


Irregular iliac crest

Irregularity of the iliac crest, which is the superior border of the wing of the ilium.


Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain.


Abnormality of mylohyoid muscle

An abnormality of a mylohyoid muscle.


Abnormality of circulating catecholamine level

An abnormal catecholamine concentration in the blood.


Intestinal edema

Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.


tumor of adipose tissue

A neoplasm (disease) that involves the adipose tissue.


Abnormality of the reflex of the tensor tympani muscle


Problematic alcohol consumption

Impaired ability to stop or control alcohol use despite adverse social, occupational, or health consequences.


Abnormality of the epiphyses of the 2nd toe


Reduced response to gonadotropin-releasing hormone stimulation test

Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels.


Cone-shaped epiphysis of the proximal phalanx of the thumb

A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Focal friction-related palmoplantar hyperkeratosis

Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.


EEG with focal slow activity

Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy).


Isoleucinuria

An increased concentration of isoleucine in the urine.


mucolipidosis type II

Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.


renal tubular dysgenesis

Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.


Abnormal lateral cricoarytenoid muscle morphology

Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway.


Chronic absent circulating total IgG

A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured.


Fetal subependymal hemorrhage

A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch.


Anarthria

A defect in the motor ability that enables speech.


Decreased renal parenchymal thickness

Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans.


Acinetobacter infectious disease

Infections with bacteria of the genus acinetobacter.


Advanced ossification of the humeral epiphysis

Ossification of the humeral epiphysis at an earlier age than normal.


Increased CSF homovanillic acid concentration

Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.


Increased sputum production

An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway).


Elevated circulating octanoylcarnitine concentration

Concentration of octanoylcarnitine (C8:0) in the blood circulation above the upper limit of normal.


soft tissue neoplasm

A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.


Thoracic hypertrichosis

Excessive, increased hair growth located in the thoracic region.


Partial duplication of the phalanges of the 2nd finger

A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Renal arteriole intima/media storage material accumulation

Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney.


Cotton wool plaques

Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes.


aortopulmonary window

A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery.


congenital factor XII deficiency

Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.


Duplication of phalanx of the 4th toe

Partial or complete duplication of phalanx of fourth toe.


Fragile skin

Skin that splits easily with minimal injury.


Ivory epiphysis of the distal phalanx of the 5th finger

Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Flared distal tibial metaphysis

The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia.


Jerk-locked premyoclonus spikes

Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.


Addictive spending behavior

An uncontrollable urge to shop and spend money can lead to distress or impairment.


Anti-GQ1b antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.


Pulmonary granulomatosis

The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung.


Defective B cell activation

A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of


nodular malignant melanoma

An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance.


Abnormal ilium morphology

An abnormality of the ilium, the largest and uppermost bone of the pelvis.


Abnormal microglia morphology

An abnormality of the microglial cells. They are also known as brain-resident macrophages or Hortega cells.


Aplasia/Hypoplasia of the phalanges of the 4th toe


colloid cysts of third ventricle

Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening.


Scissor gait

A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.


Pulmonary cavity

A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick.


Epiphyseal stippling of finger phalanges

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers.


Abnormal molar morphology

An abnormality of morphology of molar tooth.


Acromesomelia

Small hands and feet.


Abnormal diffusion weighted cerebral MRI morphology

A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images.


Bilateral cleft lip

A non-midline cleft of the upper lip on the left and right sides.


Radial club hand

Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius.


Abnormal radial artery morphology

Any structural anomaly of the radial artery.


Abnormal brain morphology

A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.


microtia

A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.


urachal cyst

Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.


Irregular thumb epiphysis

Uneven radiographic opacity of the one or more epiphyses of the thumb.


Tapered metacarpals

Metacarpal that becomes thinner toward the distal end.


Avulsion fractured humerus

A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma.


Focal aware sexual automatism seizure

A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout.


Microvillus inclusions

The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes.


Anomalous origin of the right subclavian artery from the descending aorta

Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery.


EEG with periodic lateralized epileptiform discharges

Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds).


High iliac wing

Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).


Pseudoepiphysis of the middle phalanx of the 3rd toe


HbS hemoglobin

Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.


Hypoplasia of the nasal bone

Underdevelopment of the nasal bone.


Colonic inertia

The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days.


Broad-based gait

An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.


Elevated circulating acetone concentration

An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies.


Anticardiolipin IgM antibody positivity

The presence of circulating IgM autoantibodies to cardiolipin.


Extramedullary hematopoiesis

The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.


Hypoplasia of the premaxilla

An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures.


Generalized hypopigmentation of hair

Reduced pigmentation of hair diffusely.


Elevated circulating thymidine concentration

Concentration of thymidine in the blood circulation above the normal range.


Solitary bladder diverticulum

Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder.


Linear IgA deposits along the epidermal basement membrane zone

Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.


Absent epiphysis of the middle phalanx of the 4th finger

Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger.


Papulovesicular eruption

An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point.


Iodine contrast allergy

Allergy to iodine contrast media used in radiological studies.


Increased adiponectin level

An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.


Abnormal hair quantity

An abnormal amount of hair.


gonadoblastoma

A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype.


Cerebellar cortical atrophy

Atrophy (wasting) of the cerebellar cortex.


Abnormal circulating ethanolamine concentration

Any deviation from the normal concentration of ethanolamine in circulation.


Abnormal pia mater

An abnormality of the pia mater.


Hypercitraturia

A greater than normal concentration of citrate(3-) in the urine.


Arterial tortuosity

Abnormal tortuous (i.e., twisted) form of arteries.


Disseminated viral infection

A viral infection that fails to be contained by the immune sytem and spreads throughout the body.


Abnormality of the periorbital region

An abnormality of the region situated around the orbit of the eye.


Absence of intermediate von Willebrand factor multimers

Lack of intermediate von Willebrand Factor multimers on gel electrophoresis.


Exploding head syndrome

Sleep disorder in which one hears a loud noise or explosive crashing sound in their head. The sound is not real or heard by anyone else. The episode typically happens suddenly, either when beginning to fall asleep or when waking up during the night.


Failure to offer information to initiate social interaction

The absence of the tendency to offer information as a means to initiate social interactions or direct another's attention.


Pelvic bone asymmetry

Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology.


Anti-Sm antibody positivity

The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles.


didelphys uterus

A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.


Decreased circulating IgG subclass level

A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood.


Hemihypsarrhythmia

Hypsarrhythmia occurring in one hemisphere.


Deviation of the hand or of fingers of the hand

Displacement of the hand or of fingers of the hand from their normal position.


Anomalous origin of right pulmonary artery from ascending aorta

The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.


Bifid distal phalanx of the thumb

Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones.


Hyperactive Achilles reflex

Increased intensity of the Achilles reflex.


Fetal pyelectasis

Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.


Accessory oral frenulum

Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.


Telangiectasia of the ear

The presence of telangiectasia of the ear.


Patchy osteosclerosis

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


Type II pneumocyte hyperplasia

Increase in the number of type II pneumocytes.


Decreased emotional vulnerability

Decreased emotional expression during interactions may include a lack of personal emotion sharing or empathy toward others.


Mild oligozoospermia

A type of oligozoospermia characterized by a total number of more than 30 but less than 39 million sperm in the ejaculate or a concentration of more than 10 but less than 15 million sperm per milliliter.


Fibrous cardiac diverticulum

A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly.


Arterial intimal fibrosis

Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries.


Medial calcification of small arteries

Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries.


Patellar subluxation

The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella.


Sphincter of Oddi dyskinesia

Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.


Increased connective tissue

The presence of an abnormally increased amount of connective tissue.


Triangular shaped proximal phalanx of the thumb.


Pointed proximal second through fifth metacarpals

All of the metacarpal bones of the hand have a pointed proximal appearance.


Abnormal cardiac biomarker test

Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.


Lower extremity akinesia

Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities.


Leydig cell tumor

A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course.


Quadruple gallop rhythm

A type of gallop rhythm in which both the third and the fourth sounds are present.


Abnormal circulating glucose-6-phosphate dehydrogenase concentration

An anomaly in the level of glucose-6-phosphate dehydrogenase.


Vaginal stricture

A narrowing of the vagina owing to scar formation.


Bronchial telangiectasia

Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system.


Cerebral berry aneurysm

A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.


Increased factor IX activity

Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.


Stippling of the epiphyses of the distal phalanges of the hand


Ovarian fibrosis

Excessive proliferation of fibroblasts and deposition of extracellular matrix within the ovary.


Abnormal circulating alanine concentration

An abnormality of an alanine metabolic process.


Amygdala microinfarct

An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically.


Finger aplasia

A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).


Deflation of the glomerular tuft

Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane.


Median cleft palate

Cleft palate of the midline of the palate.


Chronic respiratory acidosis

Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L).


Absent epiphysis of the proximal phalanx of the 5th toe


Pituitary resistance to thyroid hormone

A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal.


large congenital melanocytic nevus

A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.


Thick upper lip vermilion

Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).


Increased circulating IgG level

An abnormally increased level of immunoglobulin G in blood.


Elevated circulating decenoylcarnitine concentration

Concentration of decenoylcarnitine in the blood circulation above the upper limit of normal.


Decreased number of sternal ossification centers

A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms.


paraganglioma

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


Absent proximal finger flexion creases

Absence of the proximal interphalangeal flexion creases of the fingers.


Empty delta sign

This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases.


Neuropathic spinal arthropathy

A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures.


Abnormal CSF amyloid concentration

Abnormal concentration of amyloid in the cerebrospinal fluid (CSF).


Perivascular small intestinal hyaline deposition

Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the wall of the small intestine.


Periglomerular fibrosis

Circumferential fibrosis in the interstitium surrounding Bowman's capsule


Closed comedo

A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead.


Abnormal circulating GABA concentration

Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation.


Pulmonary artery intimal thickening

Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%.


Quadriceps aplasia

Absence of the quadriceps muscle.


Decreased circulating antidiuretic hormone concentration

Concentration of antidiuretic hormone, also known as vasopressin, is below the lower limit of normal in the blood circulation.


Renal tubular cyst

Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells.


Abnormal skin morphology

Any morphological abnormality of the skin.


Reduced terminal:vellus ratio

A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.


Anti-GABA(B)R antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R.


Sadness

Intense or excessive feelings of unhappiness are often characterized by feeling down, low, unhappy, or sorrowful.


glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner.


Aplasia/hypoplasia of the femur

Absence or underdevelopment of the femur.


Anomalous tracheal cartilage

An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue).


Fragmentation of the epiphysis of the 1st metacarpal

Epiphysis of the 1st metacarpal having multiple bony fragments.


Abnormal renal cortex morphology

An abnormality of the cortex of the kidney.


infiltrating lipoma

A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas.


Elevated urinary creatine/creatinine ratio

The ratio of creatine to creatinine concentration in the urine is above the upper limit of normal.


Somatic hallucination

A type of hallucination that involves the perception of sensory experiences related to the body or its internal organs, systems, or processes. It is a hallucinatory experience that primarily affects bodily sensations rather than external sensory perceptions.


Abnormal female meiosis

Anomalous oocyte meiosis


Depletion of mitochondrial DNA in liver

An abnormal reduction in the number of mitochondria in hepatocytes.


Oral mucosa nodule

A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth.


Arcuate artery endoarterial leukocyte hypercellularity

Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).


Abnormality of mentalis muscle

An abnormality of a mentalis muscle.


Underdeveloped superior crus of antihelix

Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem.


Elevated urinary 5-hydroxymethyluracil level

The amount of 5-hydroxymethyluracil in the urine, normalized for urine concentration, is above the upper limit of normal.


P mitrale

A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II.


Abnormal posterior circulating artery morphology

Any structural anomaly of the posterior circulating artery (PCOM).


Thin glomerular basement membrane

Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs.


Anterior scalloping of vertebral bodies

An excessive concavity of the anterior surface of one or more vertebral bodies.


Symphalangism of middle phalanx of 2nd finger

Fusion of the middle phalanx of the 2nd finger with another bone.


brachydactyly type E1

Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.


Elevated urinary collagen degradation products

Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.


Glomerular basement membranes powdery deposit

Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane.


Pulmonary artery stenosis

An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Narrow vertebral interpedicular distance

A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.


Decreased DLCO

Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.


Fetal ultrasound soft marker

An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders.


Cementum hypoplasia

The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth.


Amelia involving the lower limbs

Amelia of one or both legs.


Upper limb dysmetria

A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.


Accessory carpal bones

The presence of more than the normal number of carpal bones.


Septic pulmonary embolism

Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations.


46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis.


Nevus spilus

A tan, regularly bordered patch with darker macules within the lesion.


Asymmetry of the maxilla

Asymmetry between the left and right sides of the maxilla.


Renal diverticulum

Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system.


Type 2 congenital pulmonary airway malformation

A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance).


Abnormal globus pallidus morphology

An abnormality of the globus pallidus.


Fractured fused metatarsal bones 2-4

A partial or complete breakage of the fused metatarsal bones 2-4.


Fractured middle phalanx of manual digit 2

A partial or complete breakage of the middle phalanx of manual digit 2.


Sural nerve atrophy

Wasting of the sural nerve, a sensory nerve in the calf region of the leg.


Partial absence of toe

The absence of a phalangeal segment of a toe or hallux.


Elevated circulating sebacic acid concentration

Increased concentration of sebacic acid in the blood circulation.


Biceps hyperreflexia

Increased intensity of the biceps reflex.


High pitched voice

An abnormal increase in the pitch (frequency) of the voice.


Abnormal pelvic girdle bone morphology

An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.


Skin dimple over apex of long bone angulation


Abnormality of the testis size

An anomaly of the size of the testicle (the male gonad).


Anti-SUMO-activating enzyme subunit 2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2.


Abnormal rete ridge morphology

Abnormal structure of the rete ridges (also known as rete pegs), which are downward projections of epithelium surrounding the connective tissue papillae in between the dermal papillae.


Elevated urinary pipecolic acid level

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


Oral lichenoid lesion

Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions.


Generalized reticulate brown pigmentation


Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Abnormal knee physiology

A functional anomaly of the knee joint.


Reduced circulating matrix metalloproteinase 2 concentration

Concentration of matrix metalloproteinase 2 in the blood circulation below the lower limit of normal.


Focal necrotic thalamus lesion

A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the thalamus.


Recurrent mycobacterial infections

Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.


Microtia, third degree

Presence of some auricular structures, but none of these structures conform to recognized ear components.


Myoglobin casts

A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.


Cervical spinal cord atrophy

Atrophy of the cervical segment of the spinal cord.


Cold paresis

Increased muscle weakness upon exposure to cold temperatures.


Delayed ability to roll over

Delayed achievement of the ability to roll front to back and back to front.


EEG with persistent abnormal rhythmic activity


Focal impaired awareness emotional seizure

A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure.


Coronary sinus enlargement

Abnormal increase in size of the coronary sinus.


Increased CSF/serum albumin ratio

An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.


Rhabdoid tumor of the ovary

A highly aggressive, extremely rare neoplasm of the ovary that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers.


Reduced use of language for social purposes


Increased proportion of central memory CD8-positive, alpha-beta T cells

An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Peroneal muscle weakness

Weakness of the peroneal muscles.


Deep-set nails

Deeply placed nails.


Renal amyloidosis

A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).


Deep plantar creases

The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.


Expiratory air trapping

Abnormal retention of gas within a lung or part of a lung, as a result of airway obstruction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration.


Skin vesicle

A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.


Impaired touch localization

A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip.


Aplasia involving bones of the lower limbs


Abnormal shape of the occiput

An abnormal shape of occiput.


Cognitive regression

Loss of cognitive developmental skills, as manifested by loss of developmental cognitive milestones.


hearing loss, mixed conductive-sensorineural

Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear.


Decreased circulating cortisol level

Abnormally reduced concentration of cortisol in the blood.


Reduced CSF lactate

Decreased concentration of lactate in the cerebrospinal fluid.


Psoriasiform lesion

A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.


Frontotemporal cerebral atrophy

Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.


Moderate intrauterine growth retardation

Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age.


Abnormal umbilical cord blood vessel morphology


Abnormal lymph node morphology

A structural lymph node abnormality.


Small epiphysis of the distal phalanx of the 2nd toe


Abnormal renal tubule morphology

An abnormality of the renal tubules.


Increased alveolar volume

An abnormal elevation in alveolar volume.


Hydrophobia

The word hydrophobia has been used to describe the avoidance of drinking in the presence of hydrophobic spasms that can be observed in human rabies (described as a blockage in the throat with worsening of dyspnea). However, rarely, the same word has been used to describe panic reactions observed in a patient when offered a glass of water. This term does not refer to the latter meaning.


Malposition of the stomach

Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation.


Chin with vertical crease

Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest.


Thickened glomerular basement membrane

Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.


cerebral amyloid angiopathy

Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.


Medial degeneration

Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections.


Tracheomegaly

Marked widening of the trachea.


Decreased circulating luteinizing hormone level

A reduction in the circulating level of luteinizing hormone (LH).


Small intestinal dysmotility

Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.


Megaduodenum

Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.


Small epiphysis of the proximal phalanx of the 2nd finger


Sputum eosinophilia

An increased proportion of eosinophils in sputum in the differentiated cell count.


Thoracolumbar kyphosis

Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.


Sclerosis of the distal phalanx of the 5th toe


Addictive nitrous oxide use

Addiction to inhaled nitrous oxide gas (N2O) is a growing concern.


Neonatal bilateral clonic seizure

Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral.


Contracture of the distal interphalangeal joint of the fingers

Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.


Elevated circulating calcitonin concentration

Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal.


Duplication of the proximal phalanx of the 3rd finger

Partial or complete duplication of the third proximal phalanx of hand.


Prominent S wave in lead I

Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram.


Forward slanting upper incisors

The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards.


Abnormal branching pattern of the aortic arch

A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries.


Duplication of the middle phalanx of the 3rd finger

Partial or complete duplication of the middle phalanx of middle finger.


3-Methylglutaric aciduria

An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine.


Reduced lamina lucida anchoring filament density

Diminished amount of the anchoring filaments that normally bridge the lamina lucida and insert into the lamina densa in the cutaneous basement membrane zone.


Aplasia of the proximal phalanx of the 5th finger

Absence of the proximal phalanx of the little (5th) finger.


Triangular shaped 1st metacarpal

This term applies to a triangular shaped 1st metacarpal.


Ulnar deviation of the hand

Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).


Abnormality of alkaline phosphatase level

An abnormality of alkaline phosphatase level.


Abnormal urinary 1-methylhistidine concentration

Abnormal concentration of 1-methylhistidine in the urine.


Dentinogenesis imperfecta of primary and permanent teeth

Developmental dysplasia of dentin or both the primary dentition and the permanent dentition.


Decreased skull base length

Reduced anterioposterior dimension of the skull base.


Hypoplasia of the tooth germ

Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth.


Proprioceptive hallucination

A type of hallucination that involves the perception of distorted or abnormal sensations related to one's body position or movement.


Sclerosis of distal finger phalanx

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


Abnormal circulating corticosterone level

An abnormality of the concentration of corticosterone in the blood.


Stasis dermatitis

Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus.


Increased circulating brain natriuretic peptide concentration

An increased concentration of brain natriuretic peptide in the blood circulation.


Atrial cardiomyopathy

Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations.


Parietal cortical atrophy

Atrophy of the parietal cortex.


mongolian spot

A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The color is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot.


Multifocal hyperintensity of cerebral white matter on MRI

An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas.


Limited knee flexion

Reduced ability to flex (bend) the knee joint.


Sleep-wake cycle disturbance

Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder.


3-4 finger cutaneous syndactyly

A soft tissue continuity in the A/P axis between fingers 3 and 4.


Abnormality of the vertebral endplates

Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs.


Sensory ataxia

Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.


Episodic tachypnea

Episodes of very rapid breathing.


Proximal radio-ulnar synostosis

An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.


Perianal dermatitis

The presence of a rash (change of color and texture) of the perianal skin.


Abnormal urinary 3-methylhistidine level

Abnormal amount of 3-methylhistidine in the urine.


Profound global developmental delay

A profound delay in the achievement of motor or mental milestones in the domains of development of a child.


focal dystonia

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


Collectionism

Excessive or pathological tendency to save and collect possessions.


progressive muscular atrophy

A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation.


Dicarboxylic aciduria

An increased concentration of dicarboxylic acid in the urine.


Lack of oocyte pronucleus formation

An abnormality of oocyte maturation characterized by the inability of oocytes to form pronuclei after in vitro fertilization procedures. Oocytes normally show two pronuclei 17 to 20 hours after in vitro insemination.


Rope sign

The presence of linear erythematous palpable cords, often on the lateral trunk.


Schilder disease

Schilder's disease is a progressive demyelinating disorder of the central nervous system.


Mediastinal cystic lymphangioma

A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors.


Epiphyseal stippling of the first metacarpal

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone.


Warm reactive autoantibody positivity

Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C.


Nocturnal hypoxemia

Abnormally reduced oxyhemoglobin saturation during sleep (nocturnal). Different thresholds are used in the literature, including more than 10 percent of total sleep time below a SpO2 of 90 percent.


Absent epiphysis of the distal phalanx of the hallux

Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux.


Binge drinking

A pattern of episodic heavy alcohol use characterized by the consumption of a high number of drinks per occasion.


Gallbladder mass

An abnormal lesion or swelling seen on gallbladder imaging.


Pulmonary fat embolism

The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung.


Bullet-shaped thumb phalanx

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