Rightward direction of ventricular apex

description: Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal.


Kappa Bence Jones proteinuria

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

description: The presence of free monoclonal kappa immunoglobulin light chains in the urine.


name: Small epiphysis of the distal phalanx of the 3rd finger

description: Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.


trigonocephaly

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

description: Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.


Progressive sclerosis of skull base

description: Progressively increasing bone density of the skull base without significant changes in bony contour.


name: Anti-beta 2 glycoprotein I antibody positivity

description: Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS).


Abnormal brain choline level by MRS

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


Muscle fibrillation

description: Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.


name: Elevated alkaline phosphatase of renal origin

description: An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.


Abnormality of the stapes

description: An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.


Pulmonary blood flow redistribution

description: Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung.


Decreased peak expiratory flow

description: A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways.


name: Focal impaired awareness sensory seizure with gustatory features

description: A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure.


name: Decreased number of peripheral myelinated nerve fibers

description: A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).


name: Abnormal circulating fatty-acid concentration

description: A deviation from the normal concentration of a fatty acid in the blood circulation.


name: Abnormal cutaneous elastic fiber morphology

description: Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils.


Abnormality of body weight

description: An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.


Blue urine

description: An abnormal blue color of the urine.


Nocturnal hypoventilation

description: An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide.


Elbow extension contracture

description: An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position.


name: Focal aware autonomic seizure with lacrimation


Diastolic heart murmur

description: A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1.


Abnormality of facial musculature

description: An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).


Hydroxyprolinuria

description: An increased concentration of 4-hydroxy-L-proline in the urine.


Autotopagnosia

description: The loss of the ability to localize, recognize, or identify specific parts of one's body.


name: Muscle fiber polyglucosan inclusion bodies

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


Short metacarpal

description: Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.


name: Anti-centromere protein A antibody positivity

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


Abnormality of the metopic suture

description: The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a "metopic suture".


Abnormal circulating IgM level

description: An abnormal deviation from normal levels of IgM immunoglobulin in blood.


Proximal tapering of metacarpals

description: Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.


EEG with focal sharp slow waves

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


Metatarsal osteolysis

description: Osteolysis involving metatarsal bones.


Abnormal social emotional interactions

description: Social emotional interactions refer to the exchange of feelings during social interactions by means of a wide range of communicative behaviors including facial expressions, body language, and verbal communication. This term refers to an atypically low production of emotion social communication by an individual.


Periorificial hyperkeratosis

description: Scaling and overgrowth of horny tissue of the skin surrounding body orifices (including peri-auricular, peri-oral, peri-anal areas.


Recurrent gingivitis

description: Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection.


name: Abnormality of the phalanges of the 2nd finger

description: Abnormality of the phalanges of the 2nd (index) finger.


Meningeal calcification

description: Calcium deposition affecting the Meninges.


Basal ganglia necrosis

description: Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging.


Decreased CSF erythritol concentration

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


Abnormal QRS complex

description: An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.


name: Short proximal phalanx of the 4th finger

description: Hypoplastic/small proximal phalanx of the fourth finger.


Chronic cutaneous wound

description: A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result.


Abnormality of dental eruption

description: An abnormality of tooth eruption.


Abnormal sperm axoneme morphology

description: Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC.


Increased urine harderoporphyrin level

description: Concentration of harderoporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Acroosteolysis of distal phalanges (feet)


Reduced heme oxygenase activity

description: Activity of the enzyme heme oxygenase below the lower limit of normal.


Hot water-induced seizure

description: A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger.


name: Aplasia/Hypoplasia of the distal phalanx of the 2nd toe


name: Decreased proportion of marginal zone B cells

description: A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.


Prominent palatine ridges

description: Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.


name: Symphalangism of middle phalanx of finger

description: Fusion of a middle phalanx of a finger with another bone.


Hypertrophy of the upper limb

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


name: Reduced tissue carnitine-acylcarnitine translocase activity

description: Activity of carnitine-acylcarnitine translocase (CACT) in tissues below the lower limit of normal. CACT activity can be measured in multiple tissues.


Anti-dsDNA antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.


name: Abnormal response to corticotropin releasing hormone stimulation test

description: An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.


Invasive dermatophyte infection

description: Infection that extends deeply into the dermis by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails.


Ovoid vertebral bodies

description: When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.


Impaired oral bolus formation

description: An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed.


name: Expanded metatarsals with widened medullary cavities


name: Focal sensory seizure with hot-cold sensations

description: A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation.


Increased antral follicle count

description: A count of antral follicles that is higher than normal for age.


Inspiratory stridor

description: Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.


Hypoplastic nasal bone

description: Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques.


Anterolateral radial head dislocation

description: A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction.


lumbar spinal stenosis

description: A spinal stenosis that involves the lumbar region of vertebral column.


name: Absent epiphysis of the distal phalanx of the 4th finger

description: Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger.


name: Disturbance during transitions between sleep and wake states

description: A group of parasomnias that occur during the transition from wakefulness to sleep or from one sleep stage to another. Rhythmic Movement Disorder, Sleep Starts, Sleep Talking, and Nocturnal Leg Cramps - these four disorders belong to Sleep-Wake Transition Disorders in the International Classification of Sleep Disorders.


Abnormal skull morphology

description: An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.


Uterine mass

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


Neoplasm by histology

description: Neoplasm categorized according to type of histological abnormality.


name: Abnormal renal arteriole lumen morphology

description: Abnormal structural characteristics of the interior space (lumen) of renal arterioles.


name: Impaired lymphocyte transformation with phytohemagglutinin

description: Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.


T2 hyperintense cerebellar lesion

description: A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the cerebellum. This term refers to a localized hyperintensity affecting a particular region of the cerebellum.


Flexion contracture of the 4th toe

description: One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively.


name: Abnormal regional left ventricular contraction

description: A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle.


name: Abnormal proportion of CD4-positive helper T cells

description: An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count.


Abnormal CSF glutamate concentration

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


Flaky paint dermatosis

description: A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001).


Abnormal ulnar metaphysis morphology

description: Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis.


Tongue tremor

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


Subsolid pulmonary nodule

description: Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention.


Abnormal prostate morphology

description: An abnormality of the prostate.


Fascicular left ventricular tachycardia

description: A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG).


name: Impaired renal tubular reabsorption of uric acid

description: Decreased renal tubular reabsorption of uric acid.


name: Reduced circulating interleukin 17A concentration

description: An abnormally decreased concentration of interleukin 17A in the blood circulation.


Neck muscle hypoplasia

description: Underdevelopment of muscles of the neck.


Delusional misidentification

description: A group of complex, monothematic delusional phenomena in which subjects hold a belief that the identity of a familiar person, object, location, or self has been altered or replaced.


Focal cognitive seizure

description: A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.


name: Posterior fusion of lumbosacral vertebrae

description: Bony fusion of the posterior part of the L5 vertebral body with the sacrum.


description: A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.


Eosinophilic lymph node infiltration

description: Presence of an elevated number of eosinophils in a lymph node (usually as demonstrated by lymph node biopsy).


EEG with generalized spikes

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


Paroxysmal sneezing

description: Unprovoked explosive pathological sneezing.


Decreased circulating total IgA

description: Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).


Abnormal ear physiology

description: Any functional anomaly of the ear.


Calcium oxalate crystalluria

description: The presence of calcium oxalate crystals in the urine.


Abnormal vaginal bleeding

description: Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal.


Left ventricular dilatation

description: Enlargement of the chamber of the left heart ventricle.


name: Degeneration of the lateral corticospinal tracts

description: Deterioration of the tissues of the lateral corticospinal tracts.


Ruffled acrosome

description: An irregular wavy appearance of sperm acrosomes.


Renal interstitial foam cells

description: Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles.


Long hallux

description: Increased length of the big toe.


Retractile testis

description: A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.


name: Partial absence of specific antibody response to unconjugated pneumococcus vaccine

description: A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.


name: Fatigable weakness of distal limb muscles

description: A type of weakness of a skeletal muscle of distal part of a limb 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.


Supracondylar elbow fracture

description: A type of elbow fracture that involves the distal humerus just above the elbow.


name: Abnormality of the distal phalanx of the 2nd toe


Recurrent patellar dislocation

description: Patellar dislocation occurring repeated times.


Allantoic cyst

description: A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly.


Antalgic gait

description: To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.


Tremor by anatomical site

description: Tremor classified by the affected body part.


Thin toenail

description: Toenail that appears thin when viewed on end.


Middle cerebral artery 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 middle cerebral artery.


congenital syphilis

description: A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia.


Esophageal exudate

description: An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa.


name: Distal/middle symphalangism of 5th finger

description: Fusion of the terminal/distal and middle phalanges of the 5th finger.


Unilateral perisylvian polymicrogyria

description: A type of perisylvian polymicrogyria that largely affects one side of the brain.


name: Macular hypopigmented whorls, streaks, and patches


Curved 1st metatarsal

description: A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone.


name: Abnormality of the middle phalanx of the 4th toe


Inappropriate behavior

description: An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature.


Descending thoracic aorta aneurysm

description: An abnormal localized widening (dilatation) of the descending thoracic aorta.


Cerebral dysmyelination

description: Defective structure and function of myelin sheaths of the white matter of the brain.


name: Cortical radial artery intima/media necrosis

description: Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


Focal cognitive seizure with neglect

description: A focal cognitive seizure characterized by neglect as the initial semiological manifestation.


name: Arteriosclerosis of small cerebral arteries

description: Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.


Abnormal transferrin saturation

description: Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.


Starch intolerance

description: An inability to digest starch.


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


Palmomental reflex

description: A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm.


Delayed ability to walk

description: A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.


name: EEG with generalized slow activity grade 3

description: Generalized slowing of EEG activity at frequencies between 0.5-3 Hz.


Abnormal T3/T4 ratio

description: A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.


Reduced muscle aconitase activity

description: Diminished activity of the enzyne aconitase in muscle tissue.


Anterior cerebral artery stenosis

description: Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery.


Congenital megalourethra

description: Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa.


description: Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure.


Developmental regression

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


Abnormality of T cell physiology

description: A functional anomaly of T cells.


Decreased HDL2b concentration

description: A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.


Absent epiphyses of the toes

description: Absence of the epiphyses of the phalanges of the toes.


Ground-glass opacification

description: On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.


fused mandibular incisors

description: Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure.


Focal motor status epilepticus

description: Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


central sleep apnea syndrome

description: A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health.


name: Increased circulating carnosine concentration

description: Concentration of carnosine in the blood circulation above normal limits.


name: Aplasia/hypoplasia of the proximal phalanx of the 5th toe

description: Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe.


Splenic cyst

description: A closed sac located in the spleen.


name: Decreased circulating plasmalogen concentration

description: Reduced plasmalogen concentration in the blood circulation.


Pseudo-chilblains on fingers

description: Inflammatory chilblain-like nodules on the hands and/or fingers.


Right unicoronal synostosis

description: Unicoronal synostosis affecting only the right coronal suture.


name: Reduced tissue arginine:glycine amidinotransferase activity

description: Activity of L-arginine:glycine amidinotransferase (GATM; EC 2.1.4.1) in the tissues below the lower limit of normal. GATM activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.


Craniofacial teratoma

description: A teratoma located in the craniofacial region.


radial heads, posterior dislocation of

description: A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction.


name: Abnormal morphology of the proximal phalanx of the 4th toe


False perception of self-motion

description: A perception that one's body is moving or swaying despite lack of motion of the body.


Pseudoaneurysm

description: A contained rupture of an artery with a disruption in all 3 layers of the arterial wall.


Camptodactyly of toe

description: Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.


Abnormal fallopian tube morphology

description: An abnormality of the fallopian tube.


Exercise-induced myoglobinuria

description: Presence of myoglobin in the urine following exercise.


Esophageal dilation

description: Widening (relatively uniform increase in diameter) of a segment of the esophagus.


Sub-lamina densa cleavage

description: A type of blistering in which the cleavage plane of blisters is located below the lamina densa.


Abnormal lacrimal artery morphology

description: An abnormality of a lacrimal artery.


Acrokeratosis

description: Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.


Aplasia/Hypoplasia of the liver

description: Absence or underdevelopment of the liver.


Facial hypotonia

description: Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).


name: Abnormal circulating serine family amino acid concentration

description: Any deviation from the normal concentration of a serine family amino acid in the blood circulation.


Abnormality of pancreas physiology

description: An anomaly of the function of the pancreas.


name: Recurrent streptococcus pneumoniae infections

description: Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.


name: neurodegenerative syndrome due to cerebral folate transport deficiency

description: A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.


Bounding pulse

description: Increased amplitude (strength) of the pulse.


Talipes

description: A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.


name: Swan neck-like deformities of the fingers

description: A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.


Chronic noninfectious lymphadenopathy

description: A chronic form of lymphadenopathy that is not related to infection.


name: Small epiphyses of the proximal phalanges of the hand


Focal hemiclonic seizure

description: A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.


name: Increased urinary 8-oxo-7,8-dihydroguanosine level

description: An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine.


Spinal canal stenosis

description: An abnormal narrowing of the spinal canal.


perinatal lethal hypophosphatasia

description: A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.


Duplication of phalanx of hand

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


Underdeveloped antitragus

description: Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.


Premature sagging cheeks

description: Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation.


Serinuria

description: A increased concentration of serine in the urine.


name: Decreased glucose-6-phosphate dehydrogenase level in dried blood spot

description: A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.


Absent soft palate

description: A developmental defect characterized by lack of a soft palate.


Abnormal femur morphology

description: Any anomaly of the structure of the femur.


Abnormal shape of the frontal region

description: An abnormal shape of the frontal part of the head.


Short nasal bridge

description: Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.


Abnormality of the malleus

description: An abnormality of the malleus, an ossicle in the middle ear.


name: Abnormal sialylation of O-linked protein glycosylation

description: An anomaly of the addition of sialic acids to O-linked glycans.


Abnormal CSF/serum albumin ratio

description: A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.


Malignant rhabdoid tumor of liver

description: A malginant rhabdoid tumor (MRT) originating in the liver. MRT are best characterized by the presence of round or polygonal cells with abundant eosinophilic cytoplasm, typical eosinophilic perinuclear inclusions, vesicular nuclei and prominent nucleoli. Immunohistochemical expression of vimentin and epithelial markers and lack of staining for S-100, myoglobin and desmin are commonly found, but are non-specific.


Difficulty walking

description: Reduced ability to walk (ambulate).


name: Complete or near-complete absence of specific antibody response to hepatitis B vaccine

description: The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination.


Speech articulation difficulties

description: Impairment in the physical production of speech sounds.


Abnormal femoral head morphology

description: An abnormality of the femoral head.


Irregular phalanges

description: Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.


name: Alternating radiolucent and radiodense metaphyseal lines

description: Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra.


Insect allergy

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


dental pulp calcification

description: Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.


Abnormality of the pubic hair

description: Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.


Thoracoabdominal ectopia cordis

description: Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity.


Auricular tag

description: Small protrusion within the pinna.


name: Hypoplasia of the capital femoral epiphysis

description: Underdevelopment of the proximal epiphysis of the femur.


Elevated CSF thymine concentration

description: The concentration of thymine in the cerebrospinal fluid (CSF) is above the upper limit of normal.


name: Expanded terminal portion of crus of helix

description: Widening, rather than tapering, of the crus at its posterior border near the antihelix.


Fair hair

description: A lesser degree of hair pigmentation than would otherwise be expected.


name: Renal interstitial mononuclear cell infiltration

description: Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei).


Periventricular heterotopia

description: A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.


Abnormality of the diencephalon

description: An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.


name: Triangular shaped middle phalanx of the 4th finger

description: Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


name: Triangular shaped middle phalanx of the 2nd toe


Abnormality of the amniotic fluid

description: Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.


Elevated circulating osteopontin level

description: Abnormally increased level of osteopontin in the blood circulation


Aortic isthmus hypoplasia

description: A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta.


Thickened intrahepatic portal venules

description: Increased width of the vascular wall of portal venules within the liver.


name: Common origin of the right brachiocephalic artery and left common carotid artery

description: The left common carotid artery has a common origin with the innominate artery.


Ulnar claw

description: An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.


Pancreatic arteriovenous malformation

description: Pancreatic arteriovenous malformation is defined as an abnormal vascular net, developed from one or more feeding arteries and enlarged early draining veins, creating an arteriovenous shunting.


name: Elevated circulating thyroid-stimulating hormone concentration

description: Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.


name: Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal


Abnormal paranasal sinus morphology

description: Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.


Abnormal prothrombin time

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


Genu valgum

description: The legs angle inward, such that the knees are close together and the ankles far apart.


Finger agnosia

description: The examiner identified the inability to name, move, or touch specific fingers.


Indurated nodule

description: A skin nodule that is unusually hard (indurated).


name: Aplasia/Hypoplasia of the distal phalanx of the 3rd finger


Superior cerebellar dysplasia

description: Abnormal morphological development of the superior part of the cerebellum.


Pelvic girdle muscle weakness

description: Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.


Asymmetry of the mouth

description: The presence of an asymmetric mouth.


Clonal T cell receptor rearrangement

description: Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone.


Mild fetal ventriculomegaly

description: A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637).


Agenesis of the diaphragm

description: Congenital lack, i.e., aplasia of the diaphragm.


Sprengel deformity

description: A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).


Abnormal right ventricular function

description: Anomalous physiology (function) of the right ventricle.


Cerebral artery stenosis

description: Narrowing or constriction of the inner surface (lumen) of a cerebral artery.


Plagiocephaly

description: Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.


Curved proximal phalanx of the 3rd toe

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


Impaired pain sensation

description: Reduced ability to perceive painful stimuli.


Abnormality of the diaphragm

description: Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.


Brachytelomesophalangy

description: Disproportionately short middle and distal phalanges compared to the hand/foot.


name: Premature closure of the ductus arteriosus

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


Radial deviation of the hand

description: An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).


name: Anti-thyroid peroxidase antibody positivity

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


Exercise-induced lactic acidemia

description: A form of lactic acidemia that occurs following exercise or exertion.


Liver hamartoma

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


name: Increased level of galactonate in red blood cells

description: An increase in the level of galactonate in the red blood cells.


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

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


Nasal ulcer

description: An open sore of the nasal mucosa.


name: Abnormal circulating gonadotropin concentration

description: An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).


name: Abnormal circulating eicosanoid concentration

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


Increased anti-drug IgE antibody level

description: Increased level of IgE antibody against a drug or class of drugs, such as antibiotics.


Extension contracture of finger

description: A type of finger joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.


Conical incisor

description: An abnormal conical morphology of the incisor tooth.


Hyperextensibility at elbow

description: The ability of the elbow joint to move beyond its normal range of motion.


Abnormal CSF tyrosine concentration

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


Impaired antigen-specific response

description: An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).


Abnormal hair whorl

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


Abnormal mandibular ramus morphology

description: An abnormality of a mandibular ramus.


name: Medial calcification of medium-sized arteries

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


name: Diet-resistant subcutaneous adipose tissue below waist

description: Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.


Episodic abdominal pain

description: An intermittent form of abdominal pain.


Waddling gait

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


name: Partial duplication of the distal phalanx of the hallux


Increased CSF leucine concentration

description: Abnormally increased levels of leucine in cerebrospinal fluid.


Abnormal alpha-beta T cell morphology

description: A structuraly anomaly of T cells that express an alpha-beta T cell receptor.


name: Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot

description: An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.


Abnormal muscle glycogen content

description: Any anomaly in the amount of glycogen in muscle tissue.


Decreased CSF valine concentration

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


Halberd-shaped pelvis

description: An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).


Agenesis of putamen

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


Decreased urinary urate

description: Decreased concentration of urate in the urine.


name: Impaired pathogen-specific CD8 cytoxicity

description: Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors.


Hypodysplasia of the corpus callosum

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


name: Anti-signal recognition particle antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle.


name: Fragmentation of the epiphysis of the distal phalanx of the 3rd finger

description: Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger.


Neonatal multifocal myoclonic seizure

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


Secondary vesicoureteral reflux

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


Reduced arm span

description: Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).


Abnormal sella turcica morphology

description: Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull.


Everted upper lip vermilion

description: Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.


Axonal degeneration/regeneration

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


Elevated brain choline level by MRS

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


Abnormal tongue physiology

description: Any functional anomaly of the tongue.


Renal intimal/medial arteriolitis

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


Hyperchloriduria

description: An increased concentration of chloride in the urine.


Uric acid crystalluria

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


Increased CSF ornithine concentration

description: Abnormally increased levels of ornithine in cerebrospinal fluid.


Tetraphocomelia

description: Phocomelia involving all four extremities.


Madelung deformity

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


Elevated intracellular cystine

description: An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.


Ovarian serous cystadenoma

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


name: Univentricular heart with absent left sided atrioventricular connection


Extra concha fold

description: Folds or ridges within the concha that are distinct from the crus helix.


name: Increased circulating mannose-binding protein concentration

description: Concentration of mannose-binding protein in the blood circulation above the upper limit of normal.


name: Abnormal circulating plasminogen activator inhibitor 1 activity

description: The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is outside of the limits of the normal range.


Diagonal earlobe crease

description: Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees.


Reduced bone mineral density

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


name: Renal arteriole neutrophil endoarterial hypercellularity

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


Pustule

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


Decreased circulating IgD

description: An abnormally decreased level of immunoglobulin D (IgD) in blood.


name: Complete duplication of the proximal phalanx of the 3rd finger

description: Complete duplication of the third proximal phalanx of hand.


name: Impaired stimulus-induced skin wrinkling

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


Abnormal upper lip morphology

description: An abnormality of the upper lip.


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


Double inlet right ventricle

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


proximal symphalangism

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


Spontaneous neonatal pneumothorax

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


right aortic arch

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


Anti-nucleoporin 62 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62.


name: Decreased left ventricular end-diastolic volume

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


Abnormal nipple discharge

description: Abnormal fluid that seeps out of the nipple of the breast. Nipple discharge is categozied as lactational, physiologic, or pathologic.


Early onset of sexual maturation

description: An early onset of puberty, in this case early does not refer to precocious.


name: Elevated circulating gamma-aminobutyric acid concentration

description: An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation.


name: Bilateral tonic-clonic seizure with generalized onset

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


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

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


Abnormal motivation

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


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


Abnormal corpus striatum morphology

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


Bullet-shaped 1st metatarsal

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


Plantar telangiectasia

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


Humeral exostoses

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


Tonic status epilepticus

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


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


name: Monoclonal light chain cardiac amyloidosis

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


Abnormal cervical spine morphology

description: Any morphological abnormality of the cervical vertebral column.


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


Open mouth

description: A facial appearance characterized by a permanently or nearly permanently opened mouth.


name: Status epilepticus with prominent motor symptoms

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


Mandibular aplasia

description: Absence of the mandible.


name: Recurrent viral upper respiratory tract infections

description: An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis).


name: Stippling of the epiphyses of the 4th toe

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


Absent isohemagglutinin level

description: Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).


Thoracic kyphosis

description: Over curvature of the thoracic region, leading to a round back or if sever to a hump.


Aplasia of the 2nd finger

description: Absent 2nd (index) finger.


Distal ulnar hypoplasia

description: Underdevelopment of the distal portion of the ulna.


name: Osteolytic defects of the distal phalanx of the hallux


name: Cone-shaped epiphysis of the proximal phalanx of the 5th finger

description: A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.


Fallopian tube cyst

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


Uvular swelling

description: Abnormal enlargement of the uvula related to an abnormal accumulation of fluid.


Focal seizure with eyelid myoclonia

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


name: Increased circulating interleukin 12 concentration

description: An increased concentration of interleukin-12 in the blood circulation.


name: Abnormality of the proximal phalanx of the 5th finger

description: Abnormality of the proximal phalanx of the little (5th) finger.


EEG with temporal focal spikes

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


Patellar aplasia

description: Absence of the patella.


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

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


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


Lipomeningocele

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


name: Abnormality of the dorsal column of the spinal cord

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


Penoscrotal hypospadias

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


name: Partial absence of specific antibody response to hepatitis B vaccine

description: A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination.


EEG with focal sharp waves

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


Abnormality of glycoside metabolism

description: Abnormality of glycoside metabolism.


Head tremor

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


Short upper lip

description: Decreased width of the upper lip.


Prolonged reptilase time

description: An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds.


name: Cortical peritubular capillary intraluminal thrombi

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


Anti-HLA-A IgG1 antibody positivity

description: The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).


Posterior rib fusion

description: Complete or partial merging of the posterior part of adjacent ribs.


Abnormal umbilical stump bleeding

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


Delayed ability to sit

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


Abnormality of fibrinolysis

description: Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)


Unilateral wrist flexion contracture

description: A chronic loss of wrist joint motion on one side only.


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


Progressive microcephaly

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


Chronic lymphocytic meningitis

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


name: Aplasia/Hypoplasia of the musculature of the pelvis


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


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


name: Elevated circulating erythropoietin concentration

description: Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.


Abnormality of the inner ear

description: An abnormality of the inner ear.


name: Reduced plasminogen activator inhibitor 1 antigen

description: Reduced level of plasminogen activator inhibitor 1 antigen.


Socially inappropriate questioning

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


Metopic suture patent to nasal root

description: The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root.


Tongue telangiectasia

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


name: Elevated circulating thrombopoietin concentration

description: Concentration of thrombopoietin in the blood circulation above the upper limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes.


2-5 finger cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.


Shark teeth

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


Enlarged uterus

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


Bullet-shaped toe phalanx

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


Short nail

description: Decreased length of nail.


name: Ductus venosus agenesis with extrahepatic drainage and liver bypass

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


Unicornuate uterus

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


Hyperplastic colonic polyposis

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


Wide intermamillary distance

description: A larger than usual distance between the left and right nipple.


Cloudy urine

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


Absent left main coronary artery

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


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

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


Endosteal scalloping

description: A series of indentations or erosions on a normally smooth margin of the inner layer of the cortex (i.e. the endosteum) of bones.


Palmoplantar cutis laxa

description: Loose, wrinkled skin of hands and feet.


Waxy casts

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


Kinked brainstem

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


name: Reduced muscle phosphorylase kinase activity

description: Activity of the enzyme muscle phosphorylase kinase (PhK) in muscle tissue below the lower limit of normal.


name: Diffusely thickened glomerular basement membrane

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


Abnormal amygdala morphology

description: A structural anomaly of the amygdala.


Facial neoplasm

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


name: Elevated circulating complement component concentration

description: Concentration of a complement component in the blood circulation is above the upper limit of normal.


Submucous cleft soft palate

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


Cutaneous wound

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


Cone-shaped epiphyses of the 4th finger

description: A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


Septate gallbladder

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


name: Abnormality of the epiphyses of the 5th toe


name: Confluent hypointensity of cerebral white matter on MRI


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

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


Delayed talus ossification

description: Delayed maturation and calcification of the talus.


Patchy sclerosis of 4th finger phalanx

description: Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger.


Cortical sclerosis

description: Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.


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


Fractured rib

description: A partial or complete breakage of the rib.


Meromelia

description: Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot.


Positive blood lead test

description: Detection of lead in the blood.


Abnormality of skull size

description: Any abnormality of the size of the skull.


Propionyl-CoA carboxylase deficiency

description: An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase.


name: Abnormality of the brachial nerve plexus

description: Any abnormality of the brachial nerve plexus.


Spinal hypomyelination

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


Abnormality of the anus

description: Abnormality of the anal canal.


porencephaly

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


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

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


Abnormal cartilage morphology

description: Any morphological abnormality of cartilage.


Hamartomatous stomach polyps

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


Hypervigilance

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


Serpiginous crus of helix

description: Curving course of the crus of the helix, approaching or joining the antitragus.


name: Reduced tissue acetyl-CoA carboxylase activity

description: Activity of acetyl-CoA carboxylase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including liver.


Podocyte foot process effacement

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


name: Aplasia/Hypoplasia of the 4th metacarpal

description: Aplasia or Hypoplasia affecting the 4th metacarpal.


Echogenic intracardiac focus

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


name: Delayed ossification of the trapezoid bone

description: Formation of bone tissue of trapezoid is less than expected for age.


Abnormality of acid-base homeostasis

description: An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.


Tubulointerstitial fungal infiltration

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


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

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


name: Decreased specific antibody response to vaccination

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


Distal upper limb amyotrophy

description: Muscular atrophy of distal arm muscles.


Intracranial arterial calcification

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


Anti-Tr/DNER antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr.


Full cheeks

description: Increased prominence or roundness of soft tissues between zygomata and mandible.


Abnormal thalamic size

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


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


Bracket epiphyses of the 4th finger

description: An abnormality of the fourth 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.


Ski jump nail

description: Nails that slope upward at the free edge.


name: Abnormal mannosylation of N-linked protein glycosylation

description: An anomaly of the addition of mannose to N-linked glycans.


Premature occlusive vascular stenosis

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


Abnormal ductus choledochus morphology

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


name: Reduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts

description: Acitivity of alpha-aminoadipic semialdehyde synthase below the lower limit of normal in cultured fibroblasts.


name: Decreased circulating complement C7 concentration

description: Concentration of the complement component C7 in the blood circulation below the lower limit of normal.


Abnormal plantar dermatoglyphics

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


Steppage gait

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


Microdontia of primary teeth

description: Decreased size of the primary teeth.


name: Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts

description: Acitivity of 3-methylcrotonyl-CoA carboxylase (EC 6.4.1.4) below the lower limit of normal in cultured fibroblasts.


Pulmonary mass

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


Abnormal metacarpal morphology

description: Any abnormal shape or structure of the metacarpal bones.


name: Elevated circulating DNAJB9 protein concentration

description: Concentration of DnaJ homolog subfamily B member 9 (DNAJB9) in the blood circulation above the upper limit of normal.


Lip freckle

description: Increased focal pigmentation of the vermilion of the lips.


name: Anti-von Willebrand factor antibody positivity

description: The presence of autoantibodies in the serum that react to von Willebrand factor (VWF).


Abnormal scrotal rugation

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


name: Focal cognitive seizure with auditory agnosia

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


Cutaneous macular amyloidosis

description: A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance.


agraphia

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


Anterior wedging of L1

description: An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front).


Anti-GD1b antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.


Biliary epithelial hyperplasia

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


Intralobar nephroblastomatosis

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


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

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


Delayed onset bleeding

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


Abnormal circulating estrogen level

description: A deviation from normal concentration of the hormone estrogen in the blood circulation.


name: Blunted aldosterone response to aldosterone suppression test

description: A non-suppressible aldosterone excess, defined as an abnormal result of one of any four suppression tests. These tests use oral sodium loading, oral fludrocortisone, oral captopril, or saline infusion to suppress aldosterone secretion.


Foot oligodactyly

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


Abnormal hindbrain morphology

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


name: Absent epiphyses of the phalanges of the hand

description: Absence of one or more epiphyses of the phalanges of the fingers.


Abnormal lower lip morphology

description: An abnormality of the lower lip.


Abnormality of the sense of smell

description: An anomaly in the ability to perceive and distinguish scents (odors).


Fractured fused sacrum

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


Subclavian artery stenosis

description: Abnormal narrowing of the subclavian artery.


name: High renal tubular epithelial cell N/C ratio

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


Disseminated cutaneous warts

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


name: Reduced tissue fructose-1,6-bisphosphatase activity

description: Activity of fructose-1,6-bisphosphatase (EC 3.1.3.11) below the lower limit of normal. The activity can be measured in multiple tissues including liver and leukocytes.


Elevated cancer Ag 19-9 level

description: An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation.


Gingival cleft

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


Partial absence of finger

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


Paraspinal muscle hypertrophy

description: Muscle hypertrophy affecting the paraspinal muscles.


Abnormal CSF aspartate concentration

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


Reduced radioactive iodine uptake

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


Chronic (near) absent circulating IgG4

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


name: Reduced circulating interleukin 22 concentration

description: An abnormally decreased concentration of interleukin 22 in the blood circulation.


Absent pigmentation of chest

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


name: Reduced sepiapterin reductase activity in cultured fibroblasts

description: Acitivity of sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase; EC 1.1.1.153) below the lower limit of normal in cultured fibroblasts.


Absent muscle fiber gamma sarcoglycan

description: Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy.


Biceps hyporeflexia

description: Reduced intensity of the biceps tendon reflex.


Non-pitting edema

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


name: Decreased circulating membrane cofactor protein concentration

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


Focal bilateral motor seizure

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


Arthralgia of the hip

description: Joint pain affecting the hip.


Arcuate artery intraluminal thrombi

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


Focal aware tonic seizure

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


name: Reduced muscle 6-phosphofructokinase activity

description: Activity of the enzyme 6-phosphofructokinase in muscle tissue is below the lower limit of normal. 6-phosphofructokinase (EC 2.7.1.11) is also known as phosphofructokinase I and phosphohexokinase. The PFKM gene encodes the muscle isoform of phosphofructokinase. PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis.


name: Apical hypertrabeculation of the left ventricle

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


External tibial torsion

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


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

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


Neoplasm of fatty tissue

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


Adrenal gland dysgenesis

description: Abnormal development of the adrenal gland.


Sclerosis of middle toe phalanx

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


Limb joint contracture

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


name: Cortical radial artery leukocyte hypercellularity

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


Reduced muscle enolase activity

description: Diminished activity of the enzyme enolase in muscle tissue. The enzyme enolase catalyzes the interconversion of 2-phosphoglycerate and phosphoenolpyruvate. In adult human muscle, over 90% of enolase activity is accounted for by the beta-enolase subunit, the protein product of the ENO3 gene.


name: Buried teeth encased in mucopolysaccharide


Musculotendinous retraction

description: Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue.


Bilateral superior vena cava

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


name: Absent sperm axoneme central pair complex

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


Minifascicle formation

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


name: Abnormal circulating phytanic acid concentration

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


name: Chronic partially decreased circulating IgG4

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


hemopericardium

description: An accumulation of blood within the pericardial sac.


Increased fetal movement

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


Euthyroid goiter

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


Severe muscular hypotonia

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


Paradoxical myotonia

description: A type of myotonia that worsens with repeated muscle contractions.


Poliosis

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


Fractured mandible

description: A partial or complete breakage of the mandible.


Increased circulating osteocalcin level

description: An elevated level of osteocalcin in the blood.


Excessive checking

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


Incisor macrodontia

description: Increased size of the incisor tooth.


name: Anterior concavity of thoracic vertebrae


name: Ivory epiphysis of the distal phalanx of the hallux


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

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


name: Aplasia/Hypoplasia involving the carpal bones

description: Absence or underdevelopment of the carpal bones.


name: Decreased amplitude of sensory action potentials

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


Curved proximal phalanx of the 4th toe

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


name: Abnormal circulating ceruloplasmin concentration

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


Dolichocephaly

description: An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.


Ectopic anterior pituitary gland

description: Abnormal anatomic location of the anterior pituitary gland.


Fibular hypoplasia

description: Underdevelopment of the fibula.


name: Increased urinary high-mannose-type oligosaccharide

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


Anti-Powassan virus antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of a Powassan virus (POW), which is an arbovirus within the family of Flaviviruses primarily found in the Northeastern United States, Canada, and Russia. It is a zoonotic infection transmitted to humans by several tick species and is the only member of the tick-borne flaviviruses endemic to North America.


name: Infantile sensorineural hearing impairment

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


Cervical cord compression

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


Vasa previa

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


name: Activating thyroid-stimulating hormone receptor defect

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


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

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


name: Elevated circulating acetoacetic acid concentration

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


name: Decreased CSF metanephrine concentration

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


name: Lymphocytic infiltration of the parotid gland

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


Juvenile gastrointestinal polyposis

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


Vestibular sensory seeking

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


name: Abnormal gonadotropin-releasing hormone concentration

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


Unlayered lissencephaly

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