name: Decreased specific antibody response to protein vaccine

description: A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination.


Cardiac fibroma

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

description: A fibroma of the heart.


name: Hypoplastic posterior communicating artery

description: A developmental anomnaly characterized by underdevelopment of the posterior communicating artery.


Abnormality of cranial sutures

description: Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.


name: Stippling of the epiphyses of the hallux

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


Cervical agenesis

description: Congenital absence of the uterine cervix.


Bacterial encephalitis

description: Encephalitis caused by bacterial infection.


Tapered finger

description: The gradual reduction in girth of the finger from proximal to distal.


Focal cortical dysplasia type IIIc

description: A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis).


name: Irregular epiphyses of the proximal phalanges of the hand


Calcium nephrolithiasis

description: The presence of calcium-containing calculi (stones) in the kidneys.


Cold-sensitive myotonia

description: An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.


Shoulder extension contracture

description: Lack of the full expected passive range of flexion of the shoulder joint (Shoulder flexion puts the arms from a resting position at one's sides to straight above the head; thus, with shoulder extension contracture it is not possible to raise the arms above the head fully).


Myoclonic absence status epilepticus

description: Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG.


Fine hair

description: Hair that is fine or thin to the touch.


name: Abnormality of the epiphyses of the middle phalanges of the hand


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

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


name: Premature fusion of phalangeal epiphyses

description: Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.


Short femoral neck

description: An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).


Aggression toward non-caregivers

description: Aggression that is directed towards non-caregivers.


Distended jugular lymphatic sacs

description: The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency.


Hyperpigmented papule

description: A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.


Sweet craving

description: Excessive desire to eat sweet foods.


Impaired platelet adhesion

description: An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation.


T-cell lymphoma/leukemia

description: A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas.


Shortening of all metacarpals

description: Abnormal reduction in length of all metacarpal bones.


Hepatic amyloidosis

description: A form of amyloidosis that affects the liver.


name: Abnormal sex hormone-binding globulin level

description: A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood.


High-grade vesicoureteral reflux

description: Vesicoureteral reflux with dilation of the renal calyces (Grade III - V).


Enuresis diurna

description: Enuresis occurring during waking hours of the day.


Rhizomelic leg shortening

description: Disproportionate shortening of the proximal segment of the leg (i.e. the femur).


Jaw hyporeflexia

description: Reduced intensity of muscle tendon reflexes in jaw.


name: Mixed demyelinating and axonal polyneuropathy


Abnormality of the integument

description: An abnormality of the integument, which consists of the skin and the superficial fascia.


swayback

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

description: Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed)


Mesoaxial foot polydactyly

description: The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.


Jumping

description: An excessive frequency of jumping in place.


Abnormal cardiac test

description: Abnormal test result of cardiovascular physiology.


name: Reduced quantity of Von Willebrand factor

description: Decreased quantity of von Willebrand factor.


commissural lip pits

description: A depression located at an oral commissure.


name: Amplification of comfort with casual physical contact

description: An increase in the tendency of a person to be comfortable with physical contact with others compared to that person's previous norm.


Adrenal mass

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


Few cafe-au-lait spots

description: The presence of two to five cafe-au-lait macules.


Long foot

description: Increased back to front length of the foot.


Small intestinal hamartoma

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


Electrical alternans

description: The QRS complexes of the electrocardiogram alternate in height.


Vascular ring

description: A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.


epididymal neoplasm

description: A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma.


Recurrent staphylococcal infections

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


Gait ataxia

description: A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.


Triangular epiphyses of the 2nd finger

description: A triangular appearance of the epiphyses of the 2nd finger of the hand.


Aplasia/Hypoplasia of the nails

description: Aplasia or developmental hypoplasia of the nail.


Hypertrophy of the lower limb

description: Abnormal increase in size of the lower limbs (due to an increase of the size of cells).


name: Elevated CSF hydroxyproline concentration


name: Partial duplication of the middle phalanx of the 2nd finger

description: Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.


Pain insensitivity

description: Inability to perceive painful stimuli.


splenic abscess

description: An abscess that is located in the spleen.


Coiled sperm flagella

description: Sperm cells whose flagella are twisted (coiled).


name: Aplasia of the proximal phalanx of the 4th toe


name: Globus pallidus hypointensity on susceptibility-weighted imaging

description: Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI).


Bladder duplication

description: A congenital anomaly characterized by the presence of two bladders.


Hyperglycorrhachia

description: Abnormally high glucose concentration in the cerebrospinal fluid.


Relative macrocephaly

description: A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.


Crumpled ear

description: Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.


name: Abnormal pigmentation of the oral mucosa

description: An abnormality of the pigmentation of the mucosa of the mouth.


Focal hyperkinetic seizure

description: A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements.


name: Cortical thickening of humeral diaphysis


Coccidioidal meningitis

description: A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges.


name: Focal impaired awareness head nodding automatism seizure

description: A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset.


Multiple long-bone exostoses

description: Multiple exostoses originating in long bones.


Pancreatic hamartoma

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


ovarian sex cord-stromal tumor

description: A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor.


Diaphragmatic weakness

description: A decrease in the strength of the diaphragm.


name: Anti-myelin oligodendrocyte glycoprotein antibody positivity

description: Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.


Cautious gait

description: Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen.


name: Recurrent infections in infancy and early childhood

description: Recurrent infections at an early age with improvement in later childhood.


Congenital earlobe sinuses

description: Pits in the earlobes at the location where ears are typically pierced for earrings.


Abnormal serum estrone

description: A deviation from the normal concentration of circulating estrone.


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


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


Brachiocephalic artery aneurysm

description: An abnormal widening (dilatation) of the brachiocephalic artery


name: EEG with hyperventilation-induced focal epileptiform discharges

description: Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


name: Anti-phosphatidyl ethanolamine antibody positivity

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


Sandal gap

description: A widely spaced gap between the first toe (the great toe) and the second toe.


Duplication of phalanx of 5th finger

description: This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


patent ductus venosus

description: A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).


Anal pain

description: Pain in and around the anus or rectum (perianal region).


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

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


name: isolated focal cortical dysplasia type II

description: A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.


name: Anterior predominant pachygyria with 5-10 mm cortical thickness

description: Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.


Delayed patellar ossification

description: Formation of bone in the patella later than normal.


Agenesis of the carotid canal

description: A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.


name: Enlarged proximal interphalangeal joints


Focal aware motor seizure

description: A type of focal motor seizure in which awareness is retained throughout the seizure.


name: Abnormal circulating dicarboxylic acid concentration

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


Abnormality of urine homeostasis

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


Elevated urinary coproporphyrin level

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


physical urticaria

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.


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.


Hypoplasia of the brainstem

description: Underdevelopment of the brainstem.


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.


transient myeloproliferative syndrome

description: A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.


Intratubular light-chain casts

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


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.


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.


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.


acute biphenotypic leukemia

description: An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)


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: 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.


Motor neuron atrophy

description: Wasting involving the motor neuron.


Short thumb

description: Hypoplasia (congenital reduction in size) of the thumb.


name: Sclerosis of the distal phalanx of the hallux


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.


Reduced urinary iodine level

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


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.


Hyperparakeratosis

description: Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.


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.


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.


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.


name: Abnormal atrioventricular valve morphology

description: An abnormality of an atrioventricular valve.


visual agnosia

description: An inability to recognize or interpret objects by sight.


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.


Asymptomatic hyperammonemia

description: An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.


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


Gallbladder dyskinesia

description: Reduced motility of the gallbladder with reduced emptying fraction.


supravalvular aortic stenosis

description: SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.


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.


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.


Class I obesity

description: Obesity with a body mass index of 30 to 34.9 kg per square meter.


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.


Peripheral axonal degeneration

description: Progressive deterioration of peripheral axons.


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.


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.


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.


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.


Abnormal renal morphology

description: Any structural anomaly of the kidney.


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.


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.


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.


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: 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: 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.


Xanthomas of the palmar creases

description: The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.


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


Right ventricular cardiomyopathy

description: Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.


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.


hemidystonia

description: A multifocal dystonia that involves the arm and leg on the same side of the body.


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.


Hippocampal sclerosis

description: Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus.


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).


Renal calcium wasting

description: High urine calcium in the presence of hypocalcemia.


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.


Pancreatic alpha-cell hyperplasia

description: A diffuse and specific increase in the number of alpha-cells.


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.


Median cleft upper lip

description: A type of cleft lip presenting as a midline (median) gap in the upper lip.


name: Aplasia/hypoplasia involving bones of the extremities


Barrel-shaped tooth

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


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).


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.


Secondary hyperaldosteronism

description: A form of hyperaldosteronism caused by abnormally increased renin levels.


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.


description: X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness.


Coarse hair

description: Hair shafts are rough in texture.


Chronic fatigue

description: Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.


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.


neuroepithelial neoplasm

description: A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors.


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.


name: Lipid-laden macrophages in bronchoalveolar fluid

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


normal pressure hydrocephalus

description: A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)


name: Absence of the reflex of the tensor tympani muscle


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: 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.


endocardial fibroelastosis

description: Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.


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


Intellectual disability, mild

description: Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.


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.


Narrow mouth

description: Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).


Recurrent meningitis

description: An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.


Short-segment aganglionic megacolon

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


Secundum atrial septal defect

description: A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.


Triangular shaped thumb phalanx

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


Recurrent aspiration pneumonia

description: Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.


vibratory urticaria

description: This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful.


Elevated functional residual capacity

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


Loss of ambulation

description: Inability to walk in a person who previous had the ability to walk.


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.


Reversible renal failure

description: Acute renal failure with resolution of manifestations.


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.


name: High-frequency sensorineural hearing impairment

description: A form of sensorineural hearing impairment that affects primarily the higher frequencies.


bifid uvula

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


Spastic dysarthria

description: A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.


Premature graying of hair

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


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).


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.


Enlarged fetal lungs

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


uterine anomalies

description: An abnormality of the uterus.


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 .


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.


name: Low alkaline phosphatase of hepatic origin

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


Anterior hypopituitarism

description: A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.


Unilateral renal hypoplasia

description: One sided hypoplasia of the kidney.


tooth agenesis

description: A rare developmental dental anomaly in humans characterized by the absence of six or more teeth.


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).


Reduced blood urea nitrogen

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


Short N1 sleep

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


Speech apraxia

description: A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may 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.


Vaginal clear cell adenocarcinoma

description: A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm.


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.


Calcified ovarian cyst

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


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.


name: Mixed respiratory and metabolic acidosis


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.


homocystinuria

description: An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.


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.


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


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.


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.


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).


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.


Specific anosmia

description: Anosmia for one particular odor.


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.


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.


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.


Recurrent deep vein thrombosis

description: Repeated episodes of the formation of a blot clot in a deep vein.


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.


Cerebral cortical atrophy

description: Atrophy of the cortex of the cerebrum.


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.


Late onset atopic dermatitis

description: A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.


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.


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.


Skin detachment

description: Loss of sections of skin either spontaneously or after gentle handling.


name: Abnormal circulating leptin concentration

description: An abnormal concentration of leptin in the blood.


Camurati-Engelmann disease

description: Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.


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.


Mediastinal lymphadenopathy

description: Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.


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.


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.


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.


Cryptozoospermia

description: A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet.


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.


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.


Renal cortical cysts

description: Cysts of the cortex of the kidney.


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.


Global developmental delay

description: A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.


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.


Episodic hyperhidrosis

description: Intermittent episodes of abnormally increased perspiration.


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.


Ovarian papillary adenocarcinoma

description: The presence of a papillary adenocarcinoma of the ovary.


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.


frontotemporal dementia

description: Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.


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.


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.


Epidermal acanthosis

description: Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).


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.


facial hemiatrophy

description: Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.


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.


Reduced impulse control

description: Reduced ability to control, or a failure to resist a temptation, urge, or impulse.


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: sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

description: An autosomal recessive condition that is caused by mutation(s) in the MOCS1 gene, encoding molybdenum cofactor biosynthesis protein 1. it is characterized by poor feeding, encephalopathy, seizures and dysmorphic facial features.


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.


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.


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.


Abnormal cerebral morphology

description: Any structural abnormality of the telencephalon, which is also known as the cerebrum.


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.


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.


Left ventricular diastolic dysfunction

description: Abnormal function of the left ventricule during left ventricular relaxation and filling.


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.


Expressive aphasia

description: Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.


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.


Tortuous cerebral arteries

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