Abnormality of urine homeostasis

description: An abnormality of the composition of urine or the levels of its components.


Elevated urinary coproporphyrin level

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

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


physical urticaria

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

description: A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously.


Elevated haptoglobin level

description: An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation.


Absent nares

description: The nostrils (the paired channels of the nose) are not present.


Motor regression

description: Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones.


name: Focal impaired awareness verbal automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset.


Abnormal doll's eye reflex

description: The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage.


Poly-hill sign

description: A typical physical examination in patients with muscular dystrophies and selective weakness and atrophy of the trapezius muscle and proximal deltoid muscle. The contour of the back shows unique hills and drops.


Intratubular light-chain casts

description: The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules.


name: Muscle abnormality related to mitochondrial dysfunction


Thoracic aorta calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.


Lip telangiectasia

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


Corneal amyloidosis

description: A form of amyloidosis that is located in the cornea.


Tendon rupture

description: Breakage (tear) of a tendon.


Gallbladder biliary sludging

description: Presence of biliary sludge (a mixture of particulate solids that have precipitated from bile) in the gallbladder. Such sediment consists of cholesterol crystals, calcium bilirubinate pigment, and other calcium salts. Sludge is usually detected on transabdominal ultrasonography.


name: Abnormal circulating pyrimidine concentration

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


pulmonary agenesis

description: An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities.


Edematous chorionic villi

description: Swelling of the chorionic villi owing to fluid accumulation.


Primary amenorrhea

description: Abnormally late or absent menarche in a female with normal secondary sexual characteristics.


name: Increased glucose-6-phosphate dehydrogenase level in tissue

description: An increase in the level of glucose-6-phosphate dehydrogenase in tissue.


Recurrent infections due to aspiration

description: Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.


name: Glomerular endocapillary neutrophil hypercellularity

description: Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.


Generalized joint hypermobility

description: Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred.


Increased CSF urate concentration

description: Increased concentration of urate in the cerebrospinal fluid.


name: Duplication of the middle phalanx of the 3rd toe

description: Partial or complete duplication of middle phalanx of third toe.


name: Bullet-shaped distal phalanges of the hand

description: Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Aplasia of the maxilla

description: A congenital defect characterized by absence of the Maxilla.


spondylolysis

description: A defect in the pars interarticularis of a vertebral bone.


Sleep-related eating disorder

description: Eating while asleep can be problematic, as it may involve potentially harmful behaviors like overeating or consuming raw meat.


name: Small epiphysis of the proximal phalanx of the 4th toe


name: Decreased circulating complement C4a concentration

description: Concentration of the complement component C4a in the blood circulation below the lower limit of normal.


name: Entrapment neuropathy of suprascapular nerve

description: An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region.


Absent epiphyses of the thumb

description: Absence of one or more epiphyses of the thumb.


name: Sclerosis of the distal phalanx of the hallux


Abnormal areolar morphology

description: An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple.


name: Focal impaired awareness autonomic seizure with urge to urinate/defecate

description: A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure.


Abnormal lung development

description: A structural defect associated with abnormal development of the lung.


name: Triangular epiphysis of the middle phalanx of the 5th finger

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


Abnormal muscle fiber beta sarcoglycan

description: Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.


Reduced urinary iodine level

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


Asterixis

description: A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.


aortic valve prolapse

description: The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation.


Aplasia of the phalanges of the toes

description: Absence of a digit or of one or more phalanges of a toe.


Vesicoallantoic abdominal wall defect

description: An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst.


name: Decreased activity of mitochondrial complex III

description: A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.


name: Reduced aspartoacylase activity in cultured fibroblasts

description: Acitivity of aspartoacylase below the lower limit of normal in cultured fibroblasts. Aspartoacylase (EC 3.5.1.15), also called aminoacylase-2, is an enzyme that hydrolyzes N-acetyl-L-aspartic acid (NAA) to aspartate and acetate.


Small intestinal polyp

description: A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.


Coxa magna

description: Widening of the femoral head and neck.


Anti-lamin C antibody positivity

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


Elongated superior cerebellar peduncle

description: Increased length of the superior cerebellar peduncle.


Joint contracture of the 4th finger

description: Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected.


Single raphe bicuspid aortic valve

description: A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.


Hairshafts with longitudinal grooves

description: Long narrow depressions running lengthwise in hairshafts. This feature can be appreciated by scanning electron microsopy.


Decreased intracranial pressure

description: A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.


Abnormal mitral valve physiology

description: Any functional anomaly of the mitral valve.


Palmoplantar scaling skin

description: Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.


name: Complete duplication of the distal phalanx of the 2nd toe

description: Complete duplication of the distal phalanx of second toe.


name: Diminished circulating reduced nicotinamide adenine dinucleotide (NADH) concentration

description: The concentration of reduced nicotinamide adenine dinucleotide (NADH) in the blood circulation is below the lower limit of normal.


Proximal symphalangism of hands

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


Parietal meningocele

description: A herniation of meninges through a congenital bone defect in the skull in the parietal region.


Empty sella turcica

description: Empty sella or arachnoidocele has been defined as the herniation of the subarachnoid space within the sella turcica, associated with elongated pituitary stalk and flattening of the pituitary gland.


name: Absent epiphysis of the proximal phalanx of the 4th toe


Temporomandibular joint crepitus

description: Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound.


Abnormality of the anterior fontanelle

description: An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.


Abnormality of the urethra

description: An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.


name: Proximal/middle symphalangism of the 2nd finger

description: Fusion of the proximal and middle phalanges of the 2nd finger.


name: Focal impaired awareness autonomic seizure with lacrimation

description: A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure.


Holosystolic murmur

description: A heart murmur that occurs during the entire systolic phase from S1 to S2.


name: Increased circulating interleukin 6 concentration

description: The concentration of interleukin-6 in the blood circulation is above the upper limit of normal.


Scalp tenderness

description: Pain or discomfort of the scalp elicited by palpation.


name: Abnormal response to human chorionic gonadotrophin stimulation test

description: An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors.


nevus, epidermal

description: A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed.


name: Abnormal atrioventricular valve morphology

description: An abnormality of an atrioventricular valve.


Abnormal nasal mucus secretion

description: Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.


Increased Tn-antigen level

description: An abnormal increase in the concentration of Tn antigen on glycoproteins.


Broncholith

description: A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis


Abnormal plasmablast proportion

description: A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination.


Small trapezium

description: Underdevelopment of the trapezium.


Knee clonus

description: Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.


Chronic (near) absent circulating IgG3

description: A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured.


name: beta-aminoisobutyric acid, urinary excretion of

description: An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine.


name: Medullary peritubular capillary lumen organized thrombi

description: Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney.


name: Ivory epiphysis of the distal phalanx of the 3rd toe


Generalized arterial tortuosity

description: Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.


Ridged cranial sutures

description: An overlap of the bony plates of the skull in an infant, with or without early closure.


Short phalanx of finger

description: Short (hypoplastic) phalanx of finger, affecting one or more phalanges.


Elbow clonus

description: Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint.


Pancreatic mass

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


name: Tetralogy of Fallot with absent pulmonary valve

description: Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.


Ureterovesical junction obstruction

description: Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle.


Absent P wave

description: The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present.


name: EMG: continuous motor unit activity at rest

description: Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles.


Feeding difficulties in infancy

description: Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.


Abnormality of the nose

description: An abnormality of the nose.


Areflexia of lower limbs

description: Inability to elicit tendon reflexes in the lower limbs.


Abnormal capillary physiology

description: A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.


Fractured elbow

description: A partial or complete breakage of the elbow.


Laryngeal calcification

description: Calcification (abnormal deposits of calcium) in the laryngeal tissues.


Abnormal tragus morphology

description: An abnormality of the tragus.


Bullet-shaped phalanges of the hand

description: The presence of short and wide phalanges which taper distally ("bullet shaped").


name: Osteolytic defects of the phalanges of the hallux


Decreased skin turgor

description: Reduced skin turgor means reduced elastic recoil of the skin to its normal contour after being pinched in a fold.


name: Reduced circulating xanthine oxidase activity

description: Activity of the enzyme xanthine oxidase below the lower limit of normal.


Abnormal skin morphology of the palm

description: An abnormality of the skin of the palm, that is, the skin of the front of the hand.


Dilated third ventricle

description: An increase in size of the third ventricle.


agnosia

description: A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes.


Abnormal change in social behavior

description: An alternation in the habits and emotional tendencies of an individual with a change in behavior that is typically noticed by family members or peers.


Spontaneous pneumothorax

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


Hip pain

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


name: Anti-Y-box protein-1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1.


name: Shovel-shaped maxillary central incisors

description: A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces.


name: Aplasia/Hypoplasia involving the femoral head and neck


name: Decreased number of large peripheral myelinated nerve fibers

description: A reduced number of large myelinated nerve fibers.


Unsteady gait

description: A shaky or wobbly manner of walking.


Absence of intrinsic factor

description: Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.


Genital tract atresia

description: Congenital occlusion of a tube in the genital tract.


Lumbar hypertrichosis

description: Excessive, increased hair growth located in the lumbar region.


Hypoprolinemia

description: A decreased amount of proline in the blood.


Abnormal gastric mucosa morphology

description: An abnormality of the gastric mucous membrane.


Lateral spinal meningocele

description: Protrusion of the arachnoid and dura through spinal foramina.


Abnormal Bowman space morphology

description: Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron.


palmar fibromatosis

description: A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males.


name: Aplasia/hypoplasia involving forearm bones

description: Absence (due to failure to form) or underdevelopment of one or more forearm bones.


Anti-Ku antibody positivity

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


Abnormal fecal osmolality

description: Abnormal concentration of feces as assessed by the total number of solute particles per kilogram.


name: Bullet-shaped proximal phalanges of the hand

description: Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction.


Extreme oligozoospermia

description: A type of oligozoospermia characterized by a total number of more than zero but less than 2 million sperm in the ejaculate or a concentration of more than zero but less than one million sperm per milliliter.


Short N2 sleep

description: Disruptions in the second stage of NREM sleep.


name: Elevated circulating pyridinoline concentration

description: An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation.


name: Abnormality of exocrine pancreas physiology

description: A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.


Increased resting energy expenditure

description: An increase in the number of calories used per unit time.


name: Oligoclonal elevation of circulating IgM

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


name: Elevated circulating CXCL10 concentration

description: The concentration of C-X-C motif chemokine 10 (CXCL10) in the blood circulation is above the upper limit of normal.


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


Sarcomatoid carcinoma of the tongue

description: Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation.


name: Elevated circulating tumor necrosis factor alpha concentration

description: The concentration of tumor necrosis factor alpha in the blood circulation is above the upper limit of normal.


name: Grade I preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove.


name: Anomalous origin of the left common carotid artery from the main pulmonary artery

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


Jamais vu aura

description: A subjective feeling that an experience which has occurred before is being experienced for the first time.


name: Decreased circulating 18-hydroxycortisone level

description: A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation.


Abnormal brain lactate level by MRS

description: A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).


Pes cavus

description: An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).


Anesthetic-induced rhabdomylosis

description: Rhabdomyolysis induced by anesthesia.


name: Elevated circulating hepcidin concentration

description: Concentration of hepcidin in the blood circulation above the upper limit of normal.


Decreased cystatin C level

description: A decreased concentration of cystatin C in the blood circulation.


Abnormal proportion of memory B cells

description: A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).


Anti-GM1 antibody positivity

description: Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury


name: Superficial blush-like subcutaneous fatty lesions

description: Multiple, oblong, fatty lesions in the superficial subcutaneous fatty tissue. They are mostly under 2 cm in long axis diameter. They demonstrate nodular (blush-like) increased fluid signal at unenhanced MRI and are markedly hyperechoic at ultrasound.


Fractured lower limb segment

description: A partial or complete breakage of the lower limb segment.


Neurocytic rosette

description: A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular.


Abnormal pulmonary artery morphology

description: An abnormality of the structure of the pulmonary artery.


Anti-desmoglein-3 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule.


description: Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact.


Increased proportion of plasmablasts

description: An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells.


Laryngeal hypoplasia

description: Underdevelopment of the larynx.


Metatarsus valgus

description: A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.


name: Dysplasia of the superior cerebellar vermis

description: A type of cerebellar dysplasia that affects the upper part of the cerebellar vermis.


Congenital panfollicular nevus

description: A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation.


Thin vermilion border

description: Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).


Stahl ear

description: The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix.


description: Complete duplication of the middle phalanx of the 5th toe.


Anti-GD1a IgM antibody positivity

description: The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.


Abnormal perifollicular morphology

description: Any structural anomaly in the areas surrounding the hair follicles.


Decreased circulating globulin level

description: An abnormally reduced concentration of globulins in the blood.


name: Abnormal renal arteriole endothelium morphology

description: Any structural anomaly of the lining (endothelium) of the arterioles of the kidney.


name: Aplasia/hypoplasia involving bones of the extremities


Barrel-shaped tooth

description: A tooth crown with convex mesial and distal surfaces.


Hyperextensible hand joints

description: The ability of the joints of the hand to move beyond their normal range of motion.


Abnormal 2nd metacarpal morphology

description: Any abnormality of the second metacarpal bone.


name: Abnormal fetal genitourinary system morphology

description: An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


Dark yellow urine

description: An abnormal dark-yellow color of the urine.


name: Vaginal passage of hydatidiform mole tissue

description: Passage from the vagina of hyatidiform tissue, appearing as clusters of vesicles (similar to small grapes) developed from the transformation of chorionic villi. This is a manifestation of a molar pregnancy (hyatidiform mole).


Fused labia majora

description: The outer labia are sealed together.


Decreased dermal collagen

description: Abnormally reduced amount of collagen fibers in the dermis.


Coxa valga

description: Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).


name: Abnormal appendicular skeleton morphology

description: An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.


name: Increased circulating apolipoprotein circulation

description: Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein).


Dilatation of the renal pelvis

description: The presence of dilatation of the renal pelvis.


Episodic metabolic acidosis

description: Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.


Animal protein allergy

description: Hypersensitivity in form of an adverse immune reaction against animal proteins.


description: The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.


name: Focal aware cognitive seizure with hallucination

description: A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure.


Abnormality of connective tissue

description: Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).


name: Reduced circulating interleukin 7 concentration

description: A diminished concentration of interleukin-7 in the circulation.


Green urine

description: An abnormal green color of urine.


EEG with parietal sharp waves

description: EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec.


Biconvex vertebral bodies

description: Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates.


Left anterior fascicular block

description: Conduction block in the anterior division of the left bundle branch of the bundle of His.


name: Decreased circulating apolipoprotein E concentration

description: Concentration of apolipoprotein E below the lower limit of normal.


Status epilepticus with ictal paresis

description: A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures.


Coarse hair

description: Hair shafts are rough in texture.


name: Disproportionate short-limb short stature

description: A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.


Tracheal cartilaginous sleeve

description: Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes.


name: Aplasia/Hypoplasia of the phalanges of the 2nd finger


description: Noncompaction cardiomyopathy that affects both ventricles.


Oral motor hypotonia

description: Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.


name: Triangular epiphysis of the proximal phalanx of the 2nd toe


name: Complete duplication of the middle phalanges of the hand

description: A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism.


Focal aware sensory seizure

description: A focal sensory seizure during which awareness is retained throughout the seizure.


Dysgyria

description: An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.


Exercise-induced leg cramps

description: Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion.


Reduced eye contact

description: A reduced frequency or duration of eye contact.


Gluten intolerance

description: A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease.


Chills

description: A sudden sensation of feeling cold.


name: Abnormal CSF aromatic amino acid concentration

description: Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid.


description: Partial duplication of the middle phalanx of the 5th toe.


livedo reticularis

description: A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming.


name: Lipid-laden macrophages in bronchoalveolar fluid

description: Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions.


name: Absence of the reflex of the tensor tympani muscle


Pyriform aperture stenosis

description: Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose.


Silhouette sign

description: The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette.


Talipes valgus

description: Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.


name: Reduced cystathionine beta-synthase activity in cultured fibroblasts

description: Acitivity of cystathionine beta-synthase (EC 4.2.1.22) below the lower limit of normal in cultured fibroblasts.


name: Progressive conductive hearing impairment

description: A progressive type of conductive deafness.


Abnormal red nucleus morphology

description: Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement.


Abnormal sacral segmentation

description: An abnormality related to a defect of vertebral separation of sacral vertebrae during development.


name: Abnormality of the peripheral nervous system

description: Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.


Adrenal xanthomatosis

description: Lipid deposits localized within the adrenal gland. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


name: Steroid-sensitive nephrotic syndrome with frequent relapses

description: A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period.


name: Increased pituitary glycoprotein hormone alpha subunit level

description: An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.


Hyperplastic labia majora

description: Overgrowth of the outer labia.


name: Triangular epiphysis of the distal phalanx of the 4th toe


name: Decreased methylmalonyl-CoA mutase activity

description: An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.


Aplasia of the 3rd finger

description: Absent 3rd finger.


Abnormal urinary hypoxanthine level

description: The concentration of hypoxanthine in the urine, normalized for urine concentration, is outside of normal limits.


Isolated systolic hypertension

description: Elevated systolic blood pressure without an elevated blood pressure.


name: Deposits immunoreactive to beta-amyloid protein


Short-segment aganglionic megacolon

description: A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.


Triangular shaped thumb phalanx

description: Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle.


Elevated functional residual capacity

description: An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation.


Long palm

description: For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length.


Abnormal lymphocyte morphology

description: An abnormality of lymphocytes.


name: Abnormality of intrinsic muscle of tongue

description: An abnormality of an intrinsic muscle of tongue.


Fetal posterior fossa hemorrhage

description: A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum.


Subcutaneous ossification

description: Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation.


Air trapping

description: Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse.


name: Focal autonomic seizure with piloerection

description: A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature.


Curved distal phalanx of the thumb

description: A deviation from the normal straight shape of the distal phalanx of the thumb.


name: Increased anti-dairy protein IgE antibody level

description: Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products.


bifid uvula

description: Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.


Premature graying of hair

description: Development of gray hair at a younger than normal age.


Short columella

description: Reduced distance from the anterior border of the naris to the subnasale.


name: Reduced leukocyte alpha-mannosidase activity

description: Concentration or activity of an alpha-mannosidase as measured in leukocytes is below the limits of normal.


Clavicular pseudarthrosis

description: A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint).


Postauricular skin tag

description: A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear).


name: Tibiofibular interosseous membrane calcification

description: Deposition of excess calcium in the interosseous membrane of the leg, which extends between the interosseous crests of the tibia and fibula and separates the anterior and posterior muscles of the lower leg.


Ectopic testis

description: Localization of the testis in an anatomic location other than the scrotum.


Clonus

description: A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.


Increased fecal coproporphyrin 3

description: Abnormally high concentration of coproporphyrin 3 in feces


Enlarged fetal lungs

description: The size (volume) of the lungs of a fetus above the upper limit of normal for the gestational age.


name: Mycobacterium abscessus abscessus infection

description: Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections.


Absent cupid's bow

description: Lack of paramedian peaks and median notch of the upper lip vermilion.


Cervical neoplasm

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


Abnormal sebaceous gland morphology

description: Any structural anomaly of the sebaceous glands.


Abnormal natural killer cell count

description: Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.


name: Dilatation of superior mesenteric artery

description: Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery .


Positive urine opioid test

description: Detection of opioids or opioid metabolites in urine.


Abnormal 3rd finger phalanx morphology

description: Abnormality of the phalanges of the 3rd (middle) finger.


name: Focal aware sensory seizure with visual features

description: A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis.


Chronic decreased circulating IgG2

description: A lasting decrease of immunoglobulin G2 (IgG2) in the blood.


Generalized-onset seizure

description: A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.


Elevated stool chloride content

description: Elevated amount of chloride in the stool.


Swollen lip

description: Enlargement of the lip typically due to fluid buildup or inflammation.


name: Low alkaline phosphatase of hepatic origin

description: An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood.


Unilateral renal hypoplasia

description: One sided hypoplasia of the kidney.


name: Decreased erythrocyte sedimentation rate

description: A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.


Streak ovary

description: A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.


description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A).


Intracranial hemorrhage

description: Hemorrhage occurring within the skull.


Reduced blood urea nitrogen

description: An abnormally low concentration of urea nitrogen in the blood.


name: Increased circulating interleukin 2 concentration

description: An increased concentration of interleukin-2 in the blood circulation.


Short N1 sleep

description: Disruptions in the first stage of NREM sleep can occur.


name: Elevated circulating beta-aminoisobutyric acid concentration

description: An increased concentration of beta-aminoisobutyric acid in the blood circulation.


Facial capillary hemangioma

description: Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.


name: Increased circulating ethanolamine concentration

description: Abnormally increased levels of ethanolamine in circulation.


Persistent lactic acidosis

description: A continuous form of lactic acidemia.


Increased blood pressure

description: Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.


name: Triangular shaped distal phalanx of the 5th finger

description: Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


name: Abnormal CSF homovanillic acid concentration

description: Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.


name: Reduced circulating urocanic acid concentration

description: The concentration of urocanic acid in the blood circulation is below the lower limit of normal.


congenital factor XI deficiency

description: Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.


Calcified ovarian cyst

description: A cyst of the ovary that exhibits deposition of calcium salts.


name: Increased circulating interleukin 8 concentration

description: An increased concentration of interleukin-8 in the circulation.


Rem parasomnia

description: Parasomnia occurs during REM sleep.


Dilated superficial abdominal veins

description: Increase in diameter of the veins located underneath the skin of the abdomen.


Ectopic liver

description: Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter.


name: Abnormal presence of ultra-large von Willebrand factor multimers

description: Detection of abnormal ultra-large von Willebrand factor multimers.


Medial/intimal arcuate venosclerosis

description: Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins.


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


Bilateral vertebral artery hypoplasia

description: Underdevelopment of the vertebral artery on both sides.


Fractured metacarpophalangeal joint

description: A partial or complete breakage of the metacarpophalangeal joint.


Hypothalamic arteriovenous malformation

description: An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus.


Abnormal mastoid morphology

description: An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.


Purple urine

description: An abnormal purple color of the urine.


Decreased proportion of plasmablasts

description: A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells.


name: Aplasia/hypoplasia involving bones of the lower limbs

description: Absence (due to failure to form) or underdevelopment of the bones of the lower limbs.


Psychotic episodes

description: Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder.


Visual hallucination

description: Visual perception in the absence of a visual stimulus.


Snoring

description: Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping.


Partial complement factor H deficiency

description: A partial reduction in level of the complement component Factor H in circulation.


Intralobular interstitial thickening

description: A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance.


name: Pulmonary arterial hypertension with lack of acute response to NO challenge

description: A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm).


name: Increased circulating beta-carotene concentration

description: The concentration of beta-carotene in the blood circulation is above the upper limit of normal.


Carpal osteolysis

description: Osteolysis affecting carpal bones.


Finger symphalangism

description: An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly.


Declarative memory loss

description: Impaired ability to remember facts and events.


Gustatory sensory seeking

description: Pursuit of a particular taste that is abnormal in intensity and/or frequency.


name: Increased CSF homocarnosine concentration

description: Abnormally increased levels of homocarnosine in cerebrospinal fluid.


Anti-Ri antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, an antineuronal antibody.


name: Decreased circulating apolipoprotein A-I concentration

description: Concentration of apolipoprotein A-I below the lower limit of normal. Apolipoprotein A-I is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease.


Absent mastoid

description: A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent.


Pendulous urethral stricture

description: A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa.


name: Cone-shaped epiphyses of the middle phalanges of the hand


name: Reduced growth-hormone binding protein level

description: A decreased blood concentration of growth hormone binding protein.


description: Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


name: Small epiphysis of the middle phalanx of the 4th finger

description: Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.


Increased CSF interferon alpha

description: Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).


Dorsal subluxation of ulna

description: Partial dislocation of the ulna in the dorsal direction.


Supernumerary ribs

description: The presence of more than 12 rib pairs.


Slender distal phalanx of finger

description: Reduced diameter of the distal phalanx of finger.


Vacuolated lymphocytes

description: The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.


name: Fragmentation of the epiphysis of the middle phalanx of the 5th toe


Positive urine barbiturate test

description: Detection of barbiturate metabolites such as Phenobarbital in urine.


Low intestinal alkaline phosphatase

description: An abnormally reduced level of alkaline phosphatase, intestinal type in the blood.


name: Asymmetrical insertion of the midpiece into the head

description: Insertion of the neck and midpiece into the head of a spermatozoon on an axis that diverges from the midline axis of the spermatozoon head. This term applies if the proportion of spermatozoa with this defect is above the upper limit of normal.


description: Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.


Chronic constipation

description: Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.


Abnormality of infra-orbital nerve

description: A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal.


name: Mottled pigmentation of photoexposed areas


Supernumerary pulmonary fissure

description: Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes.


Reduced muscle fiber emerin

description: Immunohistochemistry reveals reduced emerin protein in the muscle biopsy.


name: Focal hyperintensity of cerebral white matter on MRI

description: An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.


Absent skin pigmentation

description: Lack of skin pigmentation (coloring).


intermittent vascular claudication

description: A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate.


Cock-walk gait

description: An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor.


Stooped posture

description: A habitual positioning of the body with the head and upper back bent forward.


Dermal multinucleated giant cells

description: Presence of giant cells in the dermis. Giant cells are formed by fusion of various cells such as macrophage, epithelioid cells, monocytes, etc., These are multi-nucleated, large in size, and generally present at the site of chronic inflammation and other granulomatous conditions.


Transverse facial cleft

description: A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear.


Ileal adenocarcinoma

description: A malignant epithelial tumor with a glandular organization that originates in the ileum.


name: Decreased circulating complement C6 concentration

description: Concentration of the complement component C6 in the blood circulation below the lower limit of normal.


Abdominal ectopia cordis

description: Displacement of the heart outside the thoracic cavity and into the abdomen.


Decreased mid-arm muscle circumference

description: Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.


Decreased pyruvate carboxylase activity

description: A decreased rate of pyruvate carboxylase activity.


Absent right superior vena cava

description: Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium.


name: Transitional atrioventricular canal defect

description: A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices.


name: Decreased circulating chenodeoxycholic acid concentration

description: A reduced concentration of chenodeoxycholic acid in the blood circulation.


Abnormal adipose tissue morphology

description: An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.


Malignant rhabdoid tumor of muscle

description: A malginant rhabdoid tumor (MRT) originating in muscle tissue.


name: Patchy sclerosis of the middle phalanx of the 3rd toe


name: Decreased circulating norepinephrine concentration

description: Concentration of norepinephrin in the blood circulation below the lower limit of normal.


Elevated CSF saccharopine concentration

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


name: Cortical radial artery intimal/medial amyloidosis

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


Positive carpal Tinel sign

description: The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve.


Enlarged posterior fossa

description: Abnormal increased size of the posterior cranial fossa.


Immediate Echolalia

description: Immediate repetition of another person's speech.


name: Decreased proportion of CD4+CD25+ regulatory T cells

description: An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.


Decreased CSF serine concentration

description: Abnormally decreased levels of serine in cerebrospinal fluid.


Medial calcification of large arteries

description: Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.


name: Abnormal four chamber view of the fetal heart

description: The four-chamber (4Ch) view of the fetal heart is the most widely used screening examination for the detection of structural cardiac abnormalities during routine fetal ultrasonography. In the healthy normal fetus, the apical 4Ch view demonstrates four well-developed chambers, a concordant atrioventricular (AV) connection, unobstructed AV valves (mitral and tricuspid valves), the foramen ovale flap opening into left atrium (LA), and an intact interventricular septum. Additionally, the pulmonary venous opening can be visualized at the LA wall. Any structural deviations from normal anatomy may lead to congenital heart disease that can be determined by the 4Ch view of the fetal heart's ultrasound imaging.


name: Abnormal circulating ferritin concentration

description: A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.


Abnormal subarachnoid space morphology

description: Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.


Bilateral lung agenesis

description: Bilateral lack of development of the lungs.


Duplication of the 1st metatarsal

description: A developmental defect consisting in the duplication of the first metatarsal bone.


name: Small epiphysis of the middle phalanx of the 5th finger

description: Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.


Sleep paralysis

description: An inability to move the body at the onset of sleep or upon awakening from sleep, lasting for seconds to a few minutes.


Redundant umbilical skin

description: Greater than normal amount of skin surrounding the umbilicus (belly button) with protrusion of the umbilicus above the plane of the abdomen.


Dust mite allergy

description: Hypersensitivity in form of an adverse immune reaction against dust mites.


volvulus of midgut

description: A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.


name: Thin proximal phalanges with broad epiphyses of the hand


Abnormality of the extrinsic pathway

description: An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.


Elevated systolic blood pressure

description: Abnormal increase in systolic blood pressure.


Calf muscle pseudohypertrophy

description: Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.


name: Impaired phorbol myristate acetate-induced platelet aggregation

description: Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA.


name: Complete left sided absence of pericardium

description: A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart.


Chronic absent circulating IgD

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


Abnormality of radial diaphysis

description: An anomaly of the radial diaphysis.


name: Increased urinary neutrophil gelatinase-associated lipocalin

description: An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter).


name: Distal sensory impairment of all modalities

description: Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.


Anterior plagiocephaly

description: Asymmetry of the anterior part of the skull.


Abnormal nasal bridge morphology

description: Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.


Perihepatic enhancement

description: Increased signal (contrast enhancement) surrounding the liver observed on computer tomography or magnetic resonance imaging following administration of contrast agents.


name: Perinuclear antineutrophil antibody positivity

description: The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.


Trophic changes related to pain

description: Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails.


EEG with polyspike wave complexes

description: The presence of complexes of repetitive spikes and waves in EEG.


Monkey wrench femoral neck

description: The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle.


name: Abnormal circulating leptin concentration

description: An abnormal concentration of leptin in the blood.


Tubulointerstitial viral infiltration

description: Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry.


Abnormal factor IX activity

description: Abnormal 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.


name: Aplasia/Hypoplasia involving the musculature of the upper limbs

description: Absence or underdevelopment of the musculature of the upper limbs.


Abnormality of the knee

description: An abnormality of the knee joint or surrounding structures.


Reduced factor IX activity

description: Decreased 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.


name: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation

description: A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.


name: EEG with photoparoxysmal response grade III

description: Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation.


Thickened elastic fibers in the dermis

description: An increase of the diameter of elastic fibers in the dermis.


Reduced fibroblast CD16 level

description: Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry.


name: Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis

description: A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Long umbilical cord

description: Increased length of the umbilical cord.


name: Abnormal enzyme activity in cultured fibroblasts

description: Concentration or activity of an enzyme is above or below the limits of normal in cultured fibroblasts. Fibroblasts are easy to grow in culture and are the main cell type involved in producing extracellular matrix. They are used as a convenient model system for measuring enzyme activity for enzymes that are not expressed in blood cells. Usually, the test is done in fibroblasts for convenience rather than for the investigation of a pathophysiology specific to fibroblasts.


name: Complete duplication of the proximal phalanx of the 2nd toe

description: Complete duplication of proximal phalanx of second toe.


name: Aplasia/hypoplasia involving the skeleton

description: Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.


Abnormal delivery

description: An abnormality of the birth process.


4-5 finger syndactyly

description: Syndactyly with fusion of fingers four and five.


Hyperconvex nail

description: When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.


Overriding aorta

description: An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.


Abnormal mitochondria in muscle tissue

description: An abnormality of the mitochondria in muscle tissue.


Decreased muscle glycogen content

description: A decreased amount of glycogen in muscle tissue.


name: Dermatological manifestations of systemic disorders


Vertebral segmentation defect

description: An abnormality related to a defect of vertebral separation during development.


Patchy sclerosis of 3rd toe phalanx

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


Glomerular capillary microaneurysm

description: Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis.


name: Fatigable weakness of swallowing muscles

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


Abnormal 5th finger morphology

description: An abnormality affecting one or both 5th fingers.


3-hydroxyisovaleric aciduria

description: Concentration of 3-hydroxyisovaleric acid in the urine above the normal range.


Bracket epiphyses of the 5th finger

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


Glomerular capillary congestion

description: Global distention of glomerular capillaries with intraluminal intact red blood cells.


Gastric diverticulum

description: An outpouching of the gastric wall.


name: Focal impaired awareness sensory seizure with hot-cold sensations

description: A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure.


Abnormal neural tube morphology

description: Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).


name: Decreased middle cerebral artery pulsatility index

description: Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity.


Atrophic muscularis propria

description: Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis.


name: Abnormal circulating lactate dehydrogenase concentration

description: A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.


Abnormality of styloglossus muscle

description: An abnormality of the styloglossus muscle.


name: Osteolytic defects of the distal phalanges of the toes


Scapular aplasia

description: Absence of the scapulae.


name: Focal aware undressing automatism seizure

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


name: Increased circulating A-type natriuretic peptide concentration

description: A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.


Subpleural curvilinear line

description: This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present).


name: Soft tissue swelling of interphalangeal joints


name: Reduced epidermal keratin 14 protein expression

description: Amount of keratin 14 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


name: Absent epiphysis of the distal phalanx of the thumb

description: Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb.


Os odontoideum

description: Separation of the odontoid process from the body of the axis.


name: Elevated CSF N-carbamyl-beta-alanine concentration

description: The concentration of N-carbamyl-beta-alanine in the cerebrospinal fluid is above the upper limit of normal.


Widened subarachnoid space

description: An increase in size of the anatomic space between the arachnoid membrane and pia mater.


Self hugging

description: Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting.


Rib gap

description: Radiolucent focal defect of a rib shaft.


Crackles

description: Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.


Granular casts

description: A type of acelluar casts 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.


EEG with focal spikes

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


name: Abnormality of the middle phalanges of the toes


Agenesis of central incisor

description: Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor.


Ivory epiphyses of the 2nd finger

description: Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Persistent EBV viremia

description: Persistent presence of Epstein-Barr virus in the blood.


Hypnopompic hallucination

description: Brief hallucinations that occur as you wake up in the morning, in a state that falls somewhere between dreaming and being fully awake.


Arcuate vein medial atrophy

description: Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney.


name: Fetal intraventricular hemorrhage with ventriculomegaly

description: A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography.


hyperostosis cranialis interna

description: Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull.


description: Abnormality of the eleventh cranial nerve.


Renal cortical microcysts

description: Cysts of microscopic size confined to the cortex of the kidney.


Increased urinary bile acid level

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


name: Contractures of the metatarsophalangeal joint of the hallux

description: The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively.


Overhanging nasal tip

description: Positioning of the nasal tip inferior to the nasal base.


Anti-HLA antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA).


name: Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Bilious emesis

description: Vomiting whereby the vomit has the color of bile, yellowish-green.


parietal foramina

description: Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.


Bullet-shaped 3rd toe phalanx

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


Abnormal high-mannose N-glycan level

description: An abnormal concentration of high-mannose N-glycans on glycoproteins.


Anti-BP230 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against BP230.


Elevated urinary cytidine

description: Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond.


name: Decreased esterified to free carnitine ratio

description: A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.


Acinar dysplasia

description: Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli.


name: Enlarged epiphysis of the proximal phalanx of the 4th toe


Thin-cap fibroatheroma

description: Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis.


Tactile agnosia

description: The inability to recognize objects by touch is called tactile agnosia.


Increased number of lymph nodes

description: An abnormally elevated number of lymph nodes in an anatomical region.


name: Complete duplication of the distal phalanx of the 3rd toe

description: Complete duplication of distal phalanx of third toe.


Flat face

description: Absence of concavity or convexity of the face when viewed in profile.


Tortuous cerebral arteries

description: Excessive bending, twisting, and winding of a cerebral artery.


microlissencephaly

description: Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years.


Neoplasm of the male external genitalia

description: A tumor (abnormal growth of tissue) of the male external genitalia.


Short proximal phalanx of the 5th toe

description: Developmental hypoplasia of the proximal phalanx of fifth toe.


PR segment elevation

description: An increase in voltage of the PR segment above baseline.


Abnormality of levator anguli oris

description: An abnormality of a levator anguli oris.


Abnormal psychotic pattern

description: Any abnormal pattern of psychotic experiences, where an individual has significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality.


Decreased urine output

description: A decreased rate of urine production.


Symphalangism of the 3rd finger

description: Fusion of two or more bones of the 3rd finger.


Pulmonary cyst

description: A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid.


name: Bullet-shaped middle phalanx of the 4th toe

description: An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Decreased prothrombin time

description: Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.


name: Contractures of the distal interphalangeal joint of the 5th toe

description: The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively.


Abnormal incisor morphology

description: An abnormality of morphology of the incisor tooth.


lissencephaly spectrum disorders

description: The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis.


name: Increased renal tubular phosphate reabsorption


name: Peripheral nerve polyglucosan inclusion bodies

description: Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in peripheral nerve fibers.


name: Abnormal peripheral nervous system synaptic transmission

description: An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.


name: Increased VLDL cholesterol concentration

description: An increase in the amount of very-low-density lipoprotein cholesterol in the blood.


Pulmonary artery aneurysm

description: An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.


Anal margin melanoma

description: A melanoma that originates in the anal margin.


name: Rhythmic movements of the tympanic membrane

description: Regularly occuring motion of the tympanic membrane (eardrum), which is located between the inner and middle ear. This can be a manifestation of tensor tympani myoclonus, which can also be ascertained as sawtooth patterns on long-term tympanometry.


name: Aplasia/Hypoplasia involving the skeletal musculature

description: Absence or underdevelopment of the musculature.


name: Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole

description: A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure.


Autophagic vacuoles

description: The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.


Increased high-mannose N-glycan level

description: An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins.


name: Calcification of the auricular cartilage

description: Ossification affecting the external ear cartilage.


Abnormal intrarenal artery morphology

description: An anomalous structure of an artery located in the kidney.


Auricular pit

description: Small indentation in the lower part of the ascending helix, concha, or in the crus helix.


name: EEG with occipital epileptiform discharges

description: Focal epileptiform EEG discharges recorded in the occipital region.


Long phalanx of finger

description: Increased length of multiple or a single phalanx of finger.


name: Failure to thrive secondary to recurrent infections

description: Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.


Spondyloepiphyseal dysplasia

description: A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).


Increased iduronate sulfatase level

description: An increased level of iduronate-2-sulfatase activity in the blood.


name: Focal aware autonomic seizure with pupillary dilation/constriction

description: A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure.


Rapp-Hodgkin syndrome

description: A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.


drug allergy

description: Immunologically mediated adverse reactions to medicinal substances used legally or illegally.


Calvarial osteosclerosis

description: An increase in bone density affecting the calvaria (roof of the skull).


name: Atrophy/Degeneration affecting the central nervous system


Abnormality of the xiphoid process

description: An abnormality of the xiphoid process of the sternum.


Hockey-stick palmar crease

description: An abnormality of the upper palmar crease whereby the crease widens and ends between the second and third fingers and is said to resemble a hockey stick.


Broad radial diaphysis

description: Increase in width of the diaphysis of radius.


Clostridium difficile enteritis

description: An infection of the small intestine (enteritis) by clostridium difficile.


Placenta percreta

description: Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs.


Abnormal fourth ventricle morphology

description: An abnormality of the fourth ventricle.


Decreased methionine synthase activity

description: A reduction in methionine synthase activity.


Stereotypic whole-body movements

description: Abnormal movements of the whole body.


Pursed lips

description: An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.


Dilatated internal auditory canal

description: The presence of a dilated inner part of external acoustic meatus.


name: Impaired renal tubular reabsorption of low molecular weight protein

description: Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption.


name: Abnormal glucose-6-phosphate dehydrogenase level in leukocytes

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


Deficit in grammar

description: Deficit in grammar, including syntax and morphology.


name: Decreased CSF homovanillic acid concentration

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


Sacral dimple

description: A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.


name: Elevated hypoxanthine-guanine phosphoribosyltransferase level

description: Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.


name: Elevated circulating reverse T3 concentration

description: Abnormally increased concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation.


Enlarged lunula

description: Abnormal enlargement of the visible portion of the distal nail matrix that extends beyond the proximal nail fold, which is refered to as the lunula.


Neck muscle weakness

description: Decreased strength of the neck musculature.


Anti-PM-Scl75 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75.


Wide penis

description: Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age.


Testicular mass

description: An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer.


Decreased proportion of naive B cells

description: A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.


name: Increased urinary renal tubular epithelial cell count

description: An increased number of renal tubular epithelial cells per high-power field in urinanalysis.


Increased fecal bile acid

description: Elevated amount of bile acids in the feces.


Pituitary gland cyst

description: A fluid-filled sacs that develop on or near the pituitary gland.


Hypoplastic ischia

description: Underdevelopment of the ischium, which forms the lower and back part of the hip bone.


name: Decreased circulating biotin concentration

description: Concentration of biotin in the blood circulation below the lower limit of normal.


Multiple pancreatic beta-cell adenomas

description: The presence of multiple pancreatic islet cell adenomas.


Ash-leaf spot

description: A hypopigmented spot in the shape of a leaf from the mountain ash tree.


Sparse body hair

description: Sparseness of the body hair.


name: Renal arteriole endoarterial hypercellularity

description: Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney.


Metaphyseal cupping

description: Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.


name: Partial-complete absence of 5th phalanges


Dilatation of mesenteric artery

description: Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .


Abnormal QT interval

description: Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).


name: Muscle fiber cytoplasmatic inclusion bodies

description: The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.


Basilar invagination

description: Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama).


name: Elevated CSF aspartylglucosamine concentration

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


name: Mixed hypo- and hyperpigmentation of the skin


name: Anti-phosphatidyl choline antibody positivity

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


Melanocytic nevus

description: A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.


Prominent umbilicus

description: Abnormally prominent umbilicus (belly button).


Abnormality of the musculature

description: Abnormality originating in one or more muscles, i.e., of the set of muscles of body.


Fractured scapula

description: A partial or complete breakage of the scapula.


Toe deformity

description: Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes.


Anti-B23 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23.


Vertebral hypoplasia

description: Small, underdeveloped vertebral bodies.


name: Abnormal circulating metabolite concentration

description: An abnormal level of an analyte measured in the blood.


name: Recurrent Serratia marcescens infections

description: Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.


name: Enlarged epiphyses of the middle phalanges of the hand


Pontine tegmental cap

description: An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.


Ganglioneuromatosis

description: Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers.


name: Triangular shaped phalanges of the hallux