Reduced beta-hexosaminidase activity

description: Diminished activity of the enzyme beta-hexosaminidase in the blood circulation.


name: EEG with centrotemporal epileptiform discharges

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

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


Moderate postnatal growth retardation

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


name: Anti-steroid 17alpha-hydroxylase antibody positivity

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


Episodic hypokalemia

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


Yellow nails

description: Yellowish discoloration of the nails.


name: Unfavorable response of muscle weakness to acetylcholine esterase inhibitors

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


Bilobed right lung

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


Maintenance insomnia

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


Migratory erythematous plaque

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


Focal emotional seizure with anger

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


Subcortical cerebral atrophy

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


Decreased resting energy expenditure

description: A reduction in the number of calories used per unit time.


Abnormal B cell proliferation

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


Abnormal Intonation

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


Abnormal pituitary gland morphology

description: An anomaly of the pituitary gland.


Atrophic superior cerebellar peduncle

description: Atrophy of the superior cerebellar peduncle.


name: Contracture of the proximal interphalangeal joint of the 3rd finger

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


Abnormal heart sound

description: Any abnormal noise generated by the beating heart.


Masseter muscular weakness

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


Flexion contracture of toe

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


supratentorial cancer

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

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


Focal aware clonic seizure

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


Ventricular escape rhythm

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


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

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


name: Elevated circulating ribitol concentration

description: The concentration of ribitol in the blood circulation is above the upper limit of normal.


name: Abnormal morphology of the shoulder musculature

description: Any abnormality of the shoulder muscles.


Small finger

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


Distal joint hypermobility

description: Lack of stability of a distal joint (e.g., finger).


Fractured metacarpal bone of digit 1

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


Enlargement of parotid gland

description: Increased size of the parotid gland.


Hyperglutamatemia

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


Hyperkinetic status epilepticus

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


Fractured talus

description: A partial or complete breakage of the talus.


Large knee

description: Abnormally increased size of the knee joint.


Paroxysmal drowsiness

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


name: Tip variant segmental glomerulosclerosis

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


Curved middle phalanx of the 2nd finger

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


Oral melanoacanthoma

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


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

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


name: Decreased circulating thyroglobulin concentration

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


Hypoproteinemic edema

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


Delayed peripheral myelination

description: Delayed myelination in the peripheral nervous system.


name: Elevated circulating inhibin A concentration

description: The concentration of inibin A in the blood circulation is above the upper limit of normal.


Rosette

description: A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub.


Long telomere length

description: Abnormally long telomeres in somatic cells.


name: Abnormal circulating UDP glucose-4-epimerase concentration

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


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


Upper limb muscle hypertrophy

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


name: Fragmentation of the metacarpal epiphyses

description: Fragmented appearance of the epiphyses of the metacarpals.


Abdominal situs ambiguus

description: An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.


Patchy sclerosis of 5th toe phalanx

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


Generalized morning stiffness

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


name: Patchy sclerosis of the distal phalanx of the 4th toe

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


name: Increased circulating creatine kinase MM isoform

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


Regional abnormality of skin

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


Absent Achilles reflex

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


name: Abnormal basal ganglia MRI signal intensity

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


Temporal artery tortuosity

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


Hemihypotrophy of lower limb

description: Shortening of a leg affecting only one side.


name: Abnormal circulating amino sulfonic acid concentration


Abnormality of central motor conduction

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


Absent pigmentation of the limbs

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


Abnormal placenta morphology

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


name: Fractured epiphysis of third metacarpal bone

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


Abnormal morphology of the radius

description: An abnormality of the radius.


name: Complete duplication of proximal phalanx of the thumb

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


Patchy sclerosis of thumb phalanx

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


Eosinophilic liver infiltration

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


Isothenuria

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


name: Reduced epidermal keratin protein expression

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


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

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


Abnormal osteoclast count

description: An anomaly in the number of osteoclasts in bone tissue, bone-resorbing cells that develop from macrophages. This finding can be observed by histological examination of bone tissue.


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


Metaphyseal spurs

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


name: Absent epiphysis of the proximal phalanx of the hallux

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


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

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


Exostoses of hand bones

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


Eyelid myoclonia seizure

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


Torn oral frenulum

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


name: Osseous atresia of the external auditory canal


Vertebral arch anomaly

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


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


name: Anti-side-chain cleavage enzyme antibody positivity

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


Tachyphrenia

description: The sensation that thoughts are moving too quickly.


Peripheral hypomyelination

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


Duodenal stenosis

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


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

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


Broad ischia

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


name: Elevated urinary 7-hydroxyoctanoic acid level

description: The amount of 7-hydroxyoctanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormal meningeal morphology

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


knuckle pads

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


Increased circulating IgG2 level

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


Distal symphalangism of hands

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


Enlarged epiphyses of the 4th finger

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


Synostosis of joints

description: The abnormal fusion of neighboring bones across a joint.


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

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


name: Reduced muscle 2,4-dienoyl-CoA reductase activity

description: Diminished activity of the enzyme 2,4-dienoyl-CoA reductase in muscle tissue.


name: Anti-neutrophil elastase antibody positivity

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


name: Symphalangism of middle phalanx of 5th finger

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


name: Abnormal muscle fiber alpha dystroglycan

description: A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.


Irregular iliac crest

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


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


Anti-lamin A antibody positivity

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


Abnormality of mylohyoid muscle

description: An abnormality of a mylohyoid muscle.


name: Abnormality of circulating catecholamine level

description: An abnormal catecholamine concentration in the blood.


tumor of adipose tissue

description: A neoplasm (disease) that involves the adipose tissue.


Organizing pneumonia

description: Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities.


name: Abnormality of the reflex of the tensor tympani muscle


Problematic alcohol consumption

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


name: Abnormality of the epiphyses of the 2nd toe


name: Reduced response to gonadotropin-releasing hormone stimulation test

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


name: Cone-shaped epiphysis of the proximal phalanx of the thumb

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


name: Focal friction-related palmoplantar hyperkeratosis

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


EEG with focal slow activity

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


Isoleucinuria

description: An increased concentration of isoleucine in the urine.


name: Abnormal circulating alpha mannosidase activity

description: Concentration or activity of alpha mannosidase outside of the limits of normal in the blood circulation.


name: Abnormal lateral cricoarytenoid muscle morphology

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


Macule

description: A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.


Chronic absent circulating total IgG

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


Muscle eosinophilia

description: Eosinophil infiltration of skeletal muscle.


Fetal subependymal hemorrhage

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


Anarthria

description: A defect in the motor ability that enables speech.


Decreased renal parenchymal thickness

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


name: Advanced ossification of the humeral epiphysis

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


name: Increased CSF homovanillic acid concentration

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


Increased sputum production

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


name: Elevated circulating octanoylcarnitine concentration

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


Thoracic hypertrichosis

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


name: Partial duplication of the phalanges of the 2nd finger

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


name: Renal arteriole intima/media storage material accumulation

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


Cotton wool plaques

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


congenital factor XII deficiency

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


Duplication of phalanx of the 4th toe

description: Partial or complete duplication of phalanx of fourth toe.


name: Ivory epiphysis of the distal phalanx of the 5th finger

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


Flared distal tibial metaphysis

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


Jerk-locked premyoclonus spikes

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


Addictive spending behavior

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


Anti-GQ1b antibody positivity

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


name: Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity

description: Concentration or activity of delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDH; EC 1.5.1.12) below the lower limit of normal. P5CDH can be measured in multiple tissues including leukocytes and cultured fibroblasts. P5CDH is a mitochondrial matrix NAD(+)-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate.


Tessier number 30 facial cleft

description: A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis.


Pulmonary granulomatosis

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


Defective B cell activation

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


Abnormal ilium morphology

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


name: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material

description: An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.


name: Aplasia/Hypoplasia of the phalanges of the 4th toe


colloid cysts of third ventricle

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


Scissor gait

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


Pulmonary cavity

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


name: Epiphyseal stippling of finger phalanges

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


Abnormal molar morphology

description: An abnormality of morphology of molar tooth.


Acromesomelia

description: Small hands and feet.


Small epiphyses

description: Reduction in the size or volume of epiphyses.


name: Abnormal diffusion weighted cerebral MRI morphology

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


Bilateral cleft lip

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


Radial club hand

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


Abnormal radial artery morphology

description: Any structural anomaly of the radial artery.


Abnormal brain morphology

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


urachal cyst

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


name: Irregular ossification at anterior rib ends


Irregular thumb epiphysis

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


Tapered metacarpals

description: Metacarpal that becomes thinner toward the distal end.


Avulsion fractured humerus

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


cephalocele

description: A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.


Focal aware sexual automatism seizure

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


Microvillus inclusions

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


name: Anomalous origin of the right subclavian artery from the descending aorta

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


name: EEG with periodic lateralized epileptiform discharges

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


High iliac wing

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


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


Broad-based gait

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


name: Elevated circulating acetone concentration

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


Anticardiolipin IgM antibody positivity

description: The presence of circulating IgM autoantibodies to cardiolipin.


Extramedullary hematopoiesis

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


Hypoplasia of the premaxilla

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


name: Elevated circulating thymidine concentration

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


Solitary bladder diverticulum

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


name: Linear IgA deposits along the epidermal basement membrane zone

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


name: Elevated urinary mevalonate lactone level

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


Abnormal insertion of umbilical cord

description: Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta.


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

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


Papulovesicular eruption

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


Iodine contrast allergy

description: Allergy to iodine contrast media used in radiological studies.


name: Reduced peroxisomal glutaryl-CoA oxidase activity

description: Diminished enzyme activity of peroxisomal glutaryl-CoA oxidase, an enzyme that metabolizes glutaryl-CoA (a metabolite of L-lysine, L-hydroxy-lysine and L-tryptophan) by dehydrogenation to glutaconyl-CoA directly followed by decarboxylation of this to crotonyl-CoA.


Increased adiponectin level

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


Abnormal hair quantity

description: An abnormal amount of hair.


Abnormality of medial pterygoid muscle

description: An abnormality of a medial pterygoid muscle.


name: Abnormal circulating ethanolamine concentration

description: Any deviation from the normal concentration of ethanolamine in circulation.


Abnormal pia mater

description: An abnormality of the pia mater.


Hypercitraturia

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


Arterial tortuosity

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


Abnormality of the periorbital region

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


name: Absence of intermediate von Willebrand factor multimers

description: Lack of intermediate von Willebrand Factor multimers on gel electrophoresis.


Exploding head syndrome

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


name: Failure to offer information to initiate social interaction

description: An atypically low tendency to offer information as a means to initiate or sustain social interactions or direct another's attention.


Pelvic bone asymmetry

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


Anti-Sm antibody positivity

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


didelphys uterus

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


name: Decreased circulating IgG subclass level

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


Hemihypsarrhythmia

description: Hypsarrhythmia occurring in one hemisphere.


name: Deviation of the hand or of fingers of the hand

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


name: Anomalous origin of right pulmonary artery from ascending aorta

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


Abnormal skinfold thickness measurement

description: Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers.


Absent muscle dystrophin expression

description: Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy.


Bifid distal phalanx of the thumb

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


Hyperactive Achilles reflex

description: Increased intensity of the Achilles reflex.


Fetal pyelectasis

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


Accessory oral frenulum

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


Telangiectasia of the ear

description: The presence of telangiectasia of the ear.


Patchy osteosclerosis

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


Type II pneumocyte hyperplasia

description: Increase in the number of type II pneumocytes.


name: Diminishment of emotional responsiveness

description: A reduction in the tendency of a person to display emotional responsiveness or empathy towards others during interpersonal interactions as compared to that person's previous norm.


Mild oligozoospermia

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


Fibrous cardiac diverticulum

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


Arterial intimal fibrosis

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


Cheyne-Stokes respiration

description: An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes.


Medial calcification of small arteries

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


Patellar subluxation

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


Increased connective tissue

description: The presence of an abnormally increased amount of connective tissue.


description: Triangular shaped proximal phalanx of the thumb.


name: Pointed proximal second through fifth metacarpals

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


Abnormal cardiac biomarker test

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


Lower extremity akinesia

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


Quadruple gallop rhythm

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


name: Abnormal circulating glucose-6-phosphate dehydrogenase concentration

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


Vaginal stricture

description: A narrowing of the vagina owing to scar formation.


Bronchial telangiectasia

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


Cerebral berry aneurysm

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


Increased factor IX activity

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


name: Stippling of the epiphyses of the distal phalanges of the hand


name: Abnormal circulating alanine concentration

description: An abnormality of an alanine metabolic process.


Amygdala microinfarct

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


Finger aplasia

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


Deflation of the glomerular tuft

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


Median cleft palate

description: Cleft palate of the midline of the palate.


Chronic respiratory acidosis

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


pneumothorax

description: Abnormal presence of air in the pleural cavity.


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


Pituitary resistance to thyroid hormone

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


large congenital melanocytic nevus

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


Thick upper lip vermilion

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


Increased circulating IgG level

description: An abnormally increased level of immunoglobulin G in blood.


name: Elevated circulating decenoylcarnitine concentration

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


name: Decreased number of sternal ossification centers

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


Absent proximal finger flexion creases

description: Absence of the proximal interphalangeal flexion creases of the fingers.


Empty delta sign

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


Lower limb pain

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


Abnormal CSF amyloid concentration

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


CSF oligoclonal immunoglobulin G bands

description: Oligoclonal immunoglobulin G (IgG) bands (OCBs) are a useful diagnostic tool to detect a central humoral response. In particular, cerebrospinal fluid (CSF)-restricted OCBs represent a hallmark of multiple sclerosis (MS).


name: Perivascular small intestinal hyaline deposition

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


Closed comedo

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


Abnormal circulating GABA concentration

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


Pulmonary artery intimal thickening

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


Quadriceps aplasia

description: Absence of the quadriceps muscle.


name: Decreased circulating antidiuretic hormone concentration

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


Abnormal skin morphology

description: Any morphological abnormality of the skin.


Reduced terminal:vellus ratio

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


Tessier number 14 facial cleft

description: This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan.


Anti-GABA(B)R antibody

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


Sadness

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


name: glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

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


Aplasia/hypoplasia of the femur

description: Absence or underdevelopment of the femur.


Anomalous tracheal cartilage

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


name: Fragmentation of the epiphysis of the 1st metacarpal

description: Epiphysis of the 1st metacarpal having multiple bony fragments.


Abnormal renal cortex morphology

description: An abnormality of the cortex of the kidney.


infiltrating lipoma

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


name: Elevated urinary creatine/creatinine ratio

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


Abnormal cry

description: Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation.


Somatic hallucination

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


Abnormal female meiosis

description: Anomalous oocyte meiosis


Depletion of mitochondrial DNA in liver

description: An abnormal reduction in the number of mitochondria in hepatocytes.


Reduced urinary manganese level

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


Oral mucosa nodule

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


Hand paresthesia

description: Tingling (often refered to as a pins and needles feeling) and numbness in the hand.


name: Decreased circulating terminal complement component concentration

description: Concentration below the lower limit of normal of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9.


Prolonged whole-blood clotting time

description: An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.


name: Arcuate artery endoarterial leukocyte hypercellularity

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


Abnormality of mentalis muscle

description: An abnormality of a mentalis muscle.


name: Underdeveloped superior crus of antihelix

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


name: Elevated urinary 5-hydroxymethyluracil level

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


P mitrale

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


atrioventricular dissociation

description: Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects.


name: Abnormal posterior circulating artery morphology

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


Thin glomerular basement membrane

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


Elevated urine N-acetyltyrosine level

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


Anterior scalloping of vertebral bodies

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


name: Symphalangism of middle phalanx of 2nd finger

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


brachydactyly type E1

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


name: Elevated urinary collagen degradation products

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


name: Glomerular basement membranes powdery deposit

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


Pulmonary artery stenosis

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


name: Narrow vertebral interpedicular distance

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


Decreased DLCO

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


Fetal ultrasound soft marker

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


name: Reduced circulating aldolase concentration

description: Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation below the lower limit of normal.


Cementum hypoplasia

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


Amelia involving the lower limbs

description: Amelia of one or both legs.


Accessory carpal bones

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


Septic pulmonary embolism

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


Nevus spilus

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


Asymmetry of the maxilla

description: Asymmetry between the left and right sides of the maxilla.


Renal diverticulum

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


name: Type 2 congenital pulmonary airway malformation

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


Abnormal globus pallidus morphology

description: An abnormality of the globus pallidus.


Fractured fused metatarsal bones 2-4

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


name: Fractured middle phalanx of manual digit 2

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


Suicidal ideation

description: Frequent thoughts about or preoccupation with killing oneself.


Flexner-Wintersteiner rosette

description: The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil.


Lateral neck mass

description: An abnormal enlargement or swelling localized to the side of the neck. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


Sural nerve atrophy

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


Partial absence of toe

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


name: Elevated circulating sebacic acid concentration

description: Increased concentration of sebacic acid in the blood circulation.


Biceps hyperreflexia

description: Increased intensity of the biceps reflex.


High pitched voice

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


Abnormal pelvic girdle bone morphology

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


name: Skin dimple over apex of long bone angulation


Abnormality of the testis size

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


name: Anti-SUMO-activating enzyme subunit 2 antibody positivity

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


Abnormal rete ridge morphology

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


Elevated urinary pipecolic acid level

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


Oral lichenoid lesion

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


name: Generalized reticulate brown pigmentation


name: Reduced muscle glycogen debrancher enzyme activity

description: Activity of the gycogen debrancher enzyme (GDE) in muscle tissue is below the lower limit of normal. GDE is a large monomeric protein with two catalytic activities: amylo-1,6-glucosidase (EC 3.2.1.33) and 4-alpha-glucanotransferase (EC 2.4.1.25).


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


Abnormal knee physiology

description: A functional anomaly of the knee joint.


Dilatation of the bladder

description: The presence of a dilated urinary bladder.


name: Reduced circulating matrix metalloproteinase 2 concentration

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


Focal necrotic thalamus lesion

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


Recurrent mycobacterial infections

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


Microtia, third degree

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


Myoglobin casts

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


Cervical spinal cord atrophy

description: Atrophy of the cervical segment of the spinal cord.


Cold paresis

description: Increased muscle weakness upon exposure to cold temperatures.


name: Dysfunctional alternative complement pathway

description: An abnormality of the functioning of any aspect of the alternative complement pathway.


name: Increased circulating interleukin 21 concentration

description: An abnormally increased concentration of interleukin 21 in the blood circulation.


Delayed ability to roll over

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


name: EEG with persistent abnormal rhythmic activity


name: Focal impaired awareness emotional seizure

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


Coronary sinus enlargement

description: Abnormal increase in size of the coronary sinus.


Increased CSF/serum albumin ratio

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


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

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


Peroneal muscle weakness

description: Weakness of the peroneal muscles.


Deep-set nails

description: Deeply placed nails.


Deep plantar creases

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


Expiratory air trapping

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


Skin vesicle

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


Impaired touch localization

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


name: Aplasia involving bones of the lower limbs


Abnormal shape of the occiput

description: An abnormal shape of occiput.


Cognitive regression

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


Post-vaccination polio

description: Infection with live attenuated polio vaccine following vaccination. This is an extremely rare event that may indicate immunocompromise.


Auditory hallucination

description: Perception of sounds without auditory stimulus.


Reduced CSF lactate

description: Decreased concentration of lactate in the cerebrospinal fluid.


Frontotemporal cerebral atrophy

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


name: Moderate intrauterine growth retardation

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


name: Abnormal umbilical cord blood vessel morphology


Abnormal lymph node morphology

description: A structural lymph node abnormality.


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


Abnormal renal tubule morphology

description: An abnormality of the renal tubules.


Tearfulness

description: A feeling of sadness characterized by episodes of crying that can occur suddenly and are not easily controlled in social situations.


Increased alveolar volume

description: An abnormal elevation in alveolar volume.


Abnormality of fluid regulation

description: An abnormality of the regulation of body fluids.


Malposition of the stomach

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


Chin with vertical crease

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


Architectural distortion of breast

description: Architectural distortion is defined as an architectural disruption of the normal breast that does not have obvious mass opacities, which may be early signs of breast carcinoma.


Thickened glomerular basement membrane

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


Tracheomegaly

description: Marked widening of the trachea.


name: Decreased circulating luteinizing hormone level

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


Small intestinal dysmotility

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


Reduced granulocyte CD59 level

description: Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry.


Megaduodenum

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


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


Abnormal pulse

description: An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart.


Thoracolumbar kyphosis

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


name: Sclerosis of the distal phalanx of the 5th toe


Addictive nitrous oxide use

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


Neonatal bilateral clonic seizure

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


name: Contracture of the distal interphalangeal joint of the fingers

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


name: Reduced lymphocyte surface expression of CD43

description: A reduction in the expression of CD43 on the cell surface of lymphocytes.


name: Elevated circulating calcitonin concentration

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


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

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


name: Elevated tissue sphingomyelin concentration

description: Concentration of sphoingomyelin in tissues above the upper limit of normal.


Prominent S wave in lead I

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


Forward slanting upper incisors

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


name: Abnormal branching pattern of the aortic arch

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


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

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


3-Methylglutaric aciduria

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


name: Reduced lamina lucida anchoring filament density

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


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

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


Triangular shaped 1st metacarpal

description: This term applies to a triangular shaped 1st metacarpal.


name: Elevated 18-hydroxycorticosterone to aldosterone ratio

description: The relative concentration in the blood circulation of 18-hydroxycorticosterone compared to that of aldosterone is above the upper limit of normal.


Ulnar deviation of the hand

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


name: Abnormality of alkaline phosphatase level

description: An abnormality of alkaline phosphatase level.


name: Abnormal urinary 1-methylhistidine concentration

description: Abnormal concentration of 1-methylhistidine in the urine.


name: Dentinogenesis imperfecta of primary and permanent teeth

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


Decreased skull base length

description: Reduced anterioposterior dimension of the skull base.


Elevated blood mercury concentration

description: The concentration of mercury in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects.


Hypoplasia of the tooth germ

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


Proprioceptive hallucination

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


Pustular rash

description: A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils.


Sclerosis of distal finger phalanx

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


name: Abnormal circulating corticosterone level

description: An abnormality of the concentration of corticosterone in the blood.


name: Reduced hepatic cystathionine gamma-lyase activity

description: Activity of cystathionine gamma-lyase in the liver below the lower limit of normal.


name: Increased circulating brain natriuretic peptide concentration

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


Parietal cortical atrophy

description: Atrophy of the parietal cortex.


mongolian spot

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


name: Multifocal hyperintensity of cerebral white matter on MRI

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


Limited knee flexion

description: Reduced ability to flex (bend) the knee joint.


3-4 finger cutaneous syndactyly

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


3-4 toe cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the toes 3 and 4.


Abnormality of the vertebral endplates

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


Sensory ataxia

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


Episodic tachypnea

description: Episodes of very rapid breathing.


Proximal radio-ulnar synostosis

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


name: Abnormal urinary 3-methylhistidine level

description: Abnormal amount of 3-methylhistidine in the urine.


name: Reduced circulating alpha-L-fucosidase activity

description: Activity of the enzyme alpha-L-fucosidase below the lower limit of normal.


Profound global developmental delay

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


Collectionism

description: Excessive or pathological tendency to save and collect possessions.


Dicarboxylic aciduria

description: An increased concentration of dicarboxylic acid in the urine.


nicotine dependence

description: Physical and psychological dependence on nicotine.


Internal anal sphincter achalasia

description: A disorder of the internal anal sphincter (IAS) in which the IAS fails to relax that manifests clinically as intractable constipation.


Lack of oocyte pronucleus formation

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


Rope sign

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


Schilder disease

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


Mediastinal cystic lymphangioma

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


name: Abnormal liver enzyme activity or concentration

description: Concentration or activity of an enzyme is above or below the limits of normal in liver tissue.


name: Epiphyseal stippling of the first metacarpal

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


Single fiber EMG abnormality

description: Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers.


Warm reactive autoantibody positivity

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


name: Abnormal circulating lipoprotein(a) concentration

description: The concentration of lipoprotein(a) in the blood circulation is outside the limits of normal.


name: Absent epiphysis of the distal phalanx of the hallux

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


Increased total bilirubin

description: Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.


Binge drinking

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


Gallbladder mass

description: An abnormal lesion or swelling seen on gallbladder imaging.


Bullet-shaped thumb phalanx

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


Small intestinal bacterial overgrowth

description: An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml.


name: Abnormality of the phalanges of the 4th toe


Psychomotor deterioration

description: Loss of previously present mental and motor abilities.


name: Increased circulating antimullerian hormone concentration

description: An elevation above the normal range of the antimullerian hormone in the circulation.


name: Abnormal circulating free T3 concentration

description: A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3.


name: Cortical diaphyseal irregularity of the upper limbs


Increased proportion of naive T cells

description: An abnormally increased proportion of naive T cells relative to the total number of T cells.


Abnormal oxygen level in cord blood

description: An abnormal level of blood oxygen in the cord blood.


name: congenitally corrected transposition of the great arteries

description: Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.


Short neck

description: Diminished length of the neck.


Bilateral vocal cord paralysis

description: A loss of the ability to move the vocal fold on both sides.


Expiratory crackles

description: Crackles that occur during expiration.


Delusional perception

description: A true perception, to which a patient attributes a false meaning, ranges from experiencing some vague meaning to clear, delusional observations, and expresses delusions of reference.


name: Focal T2 hyperintense basal ganglia lesion

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


name: Cortical peritubular capillary lumen organized thrombi

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


Nocturnal seizures

description: Seizures that occur while the affected individual is sleeping.


Cervical platyspondyly

description: A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.


spermatogenic failure, Y-linked, 1

description: A decrease in the number of germ cells but all stages of sperm cell development are present.


Abnormal anus morphology

description: A structural anomaly of the anus.


Cleft vertebral arch

description: A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra.


Internal carotid artery dissection

description: A separation (dissection) of the layers of the internal carotid artery wall.


name: Excessive skin wrinkling on dorsum of hands and fingers


name: Decreased circulating mannose-binding protein concentration

description: Concentration of mannose-binding protein in the blood circulation below the lower limit of normal.


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

description: Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger.


Mandibular osteolysis

description: Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible.


Sclerosis of 2nd toe phalanx

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


Agonadism

description: Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).


Presacral ganglioneuroma

description: A gangioleneuroma originating from sympathetic ganglion cells in the abdomen.


Anti-desmoplakin II antibody positivity

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


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

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


Lateral thrust

description: Lateral thrust (LT) refers to an abnormal knee joint motion in the early stance phase where the knee joint center moves laterally. Also known as varus thrust, LR is defined as the dynamic worsening or abrupt onset of varus (bow-leg) alignment as the limb accepts weight (stance phase), with a return to less varus and more neutral alignment during lift-off and the non-weight-bearing (swing) phase of gait, varus thrust is a potent mechanical risk factor for medial knee osteoarthritis progression.


Absent pituitary stalk

description: A developmental defect characterized by failure to develop of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.


description: Sweating and flushing in the preauricular area in response to mastication or a salivary stimulus. Facial warmth, flushing, and sweating in the territory of the auriculotemporal nerve overlying the parotid gland, which may include the preauricular skin, the temporal skin, the scalp, and the temporomandibular joint region. Symptoms occur during meals, especially with spicy and sour foods. This feature is inferred to be a consequence of injury to the auriculotemporal nerve, a branch if the trigeminal nerve.


name: Abnormality of dorsoventral patterning of the limbs

description: An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs.


name: Bilateral superior vena cava with no bridging vein


name: Focal cognitive seizure with left-right confusion

description: A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation.


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


Abnormal nasal base norphology

description: An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face.


Staccato cry

description: A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations.


Enlarged pituitary gland

description: An abnormally increased size of the pituitary gland.


Abnormal cardiac output

description: A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs.


Decreased nerve conduction velocity

description: A reduction in the speed at which electrical signals propagate along the axon of a neuron.


name: Elevated circulating stearoylcarnitine concentration

description: Abnormally increased concentration of O-stearoylcarnitine in the blood circulation.


name: Impaired collagen-related peptide-induced platelet aggregation

description: Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.


Podocyte cytoskeletal condensation

description: Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte.


Gastric duplication

description: Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach.


Muscular ventricular septal aneurysm

description: Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).


Abnormality of cervical plexus

description: Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck.


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

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


Cognitive epileptic aura

description: A purely subjective manifestation of an epileptic seizure pertaining to altered cognition.


name: Elevated circulating methylglutarylcarnitine concentration

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


name: Increased urinary squamous epithelial cell count

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


Pancreas divisum

description: A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present.


Oocyte maturation arrest

description: Oocyte maturation arrest (OMA) can manifest as failed in vitro fetilization/intracytoplasmic sperm injection (IVF/ICSI) attempts using affected oocytes.


Wide humeral diaphysis

description: Increased width of the humeral diaphysis.


name: Cleft at the superior portion of the pinna


name: Elevated circulating biliverdin concentration

description: Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation.


Increased glomerular filtration rate

description: An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.


name: Elevated circulating lyso-globotriaosylsphingosine concentration

description: An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation.


Pallor

description: Abnormally pale skin.


Thoracic hemivertebrae

description: Absence of one half of the vertebral body in the thoracic spine.


Absent muscle fiber alpha sarcoglycan

description: Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy.


Pancolitis

description: Inflammation of the entire colon.


name: Decreased circulating follicle stimulating hormone concentration

description: A reduction of the circulating level of follicle-stimulating hormone (FSH).


Short phalanx of the 3rd toe

description: Developmental hypoplasia of the phalanx of third toe.


Abnormal mucociliary clearance

description: An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary beating.


Intermittent jaundice

description: Jaundice that is sometimes present, sometimes not.


Absent stapes

description: Aplasia of the stapes.


Non-pruritic urticaria

description: Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus.


Ventricular bigeminy

description: An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat.


Periportal emperipolesis

description: The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area.


pulmonary valve stenosis

description: The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.


Pseudoepiphyses of the 4th finger

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


Rete ridge elongation

description: Increased length of the rete rdiges of the epidermis.


Small cerebral cortex

description: Reduced size of the cerebral cortex.


Short tubular bones of the hand

description: Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.


Recurrent interdigital mycosis

description: A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers.


Bifid antitragus

description: Double rather than single peak of the antitragus.


name: Mucinous cystic neoplasm of the pancreas

description: Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma.


Argyrophilic inclusion bodies

description: Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.


Cerebellopontine angle arachnoid cyst

description: An arachnoid cyst located at the margin of the cerebellum and pons.


Tracheal papilloma

description: A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea.


name: Abnormality of anterior ethmoidal artery

description: An abnormality of an anterior ethmoidal artery.


name: Renal interstitial non-necrotizing granulomas

description: Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis.


Mania

description: A state of abnormally elevated or irritable mood, arousal, and/or energy levels.


Reduced upper to lower segment ratio

description: Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present.


name: Partial duplication of the distal phalanx of the 5th toe

description: Partial duplication of the distal phalanx of little toe.


Exudative pleural effusion

description: A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.


name: Elevated circulating luteinizing hormone level

description: An elevated concentration of luteinizing hormone in the blood.


Reduced cellular cobalamin uptake

description: Diminished ability of cells to transport cobalamine from the extracellular space to the cytoplasm.


Enterocutaneous fistula

description: An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin.


Aplasia of the 4th metacarpal

description: Absence of the fourth long bone of the hand.


Abnormal chylomicron concentration

description: Any deviation from the normal circulating concentration of chylomicrons.


Abnormal vaginal physiology

description: Any anomaly of vagina function.


Abnormal small intestine morphology

description: A structural abnormality of the small intestine.


Positive CSF JC-virus nucleic acid test

description: Detection of JC-virus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.


name: Glomerular hyaline subepithelial deposits

description: A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


name: Abnormal circulating follicle-stimulating hormone concentration

description: An anomaly of the circulating level of follicle-stimulating hormone (FSH).


Podocyte infolding

description: Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM.


Abnormal T cell activation

description: Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.


name: Lower thoracic interpediculate narrowness

description: A reduction of the distance between the lower thoracic vertebral pedicles.


name: Recurrent Haemophilus influenzae infections

description: Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.


name: Abnormal circulating beta-carotene concentration

description: Any deviation of the concentration of beta-carotene in the blood circulation from the normal range.