Synkinesis

description: Unintentional movement in one area of the body produced during intentional movement of another area of the body.


Thickened skin

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

description: Laminar thickening of skin.


Diaphyseal sclerosis

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


name: Aplasia/Hypoplasia of the fifth metatarsal bone


Abnormal natural killer cell morphology

description: An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.


name: Elevated circulating 27-hydroxycholesterol concentration

description: The concentration of 27-hydroxycholesterol in the blood circulation is above the upper limit of normal.


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

description: Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger.


Complete cleft of the upper lip

description: Cleft of the upper lip that starts from the bottom of the upper lip and reaches the nasal cavity.


name: Thyrotoxicosis from ectopic thyroid tissue


name: Elevated urine 4-methyl-2-oxopentanoic acid level

description: Increased amount of 4-methyl-2-oxopentanoic acid in the urine.


Perineal hemangioma

description: Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.


Pelvic mass

description: An abnormal enlargement or swelling in the pelvic region.


Abnormal chorion morphology

description: Any structural anomaly of the fetal part of the placenta, which is known as the chorion.


Acute respiratory acidosis

description: Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35).


Decreased urinary biopterin level

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


name: Extra-axial cerebrospinal fluid accumulation

description: An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.


name: Fractured middle phalanx of pedal digit 3

description: A partial or complete breakage of the middle phalanx of pedal digit 3.


Villous hypertrophy of choroid plexus

description: Overgrowth of the choroid plexus.


Increased heart rate variability

description: Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.


Juvenile aseptic necrosis

description: Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.


Abdominal aortic dissection

description: A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers.


name: T cell chronic lymphocytic lymphoma/leukemia

description: A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.


Pulsatile liver

description: Cardiac synchronous pulsation on palpation.


Retropharyngeal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx.


Abnormal oral cavity morphology

description: Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.


Reduced circulating fibronectin level

description: A reduction below the normal concentration of fibronectin the the blood circulation.


Abnormal fecal pH

description: Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline.


Abnormality of the spleen

description: An abnormality of the spleen.


Short proximal phalanx of the 3rd toe

description: Abnormal reduction in length of proximal phalanx of third toe.


Vulvar abscess

description: A circumscribed area of pus or necrotic debris in the vulvar region.


Hydrocolpos

description: Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.


Abnormality of the abdominal organs

description: An abnormality of the viscera of the abdomen.


Harlequin phenomenon

description: The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body.


Chin with H-shaped crease

description: H-shaped crease in the fat pad of the chin.


name: Bilateral superior vena cava with bridging vein


name: Abnormal morphology of musculature of pharynx

description: An abnormality of any of the muscles of the pharynx.


Cardiomyocyte degeneration

description: Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.


Mycobacterium bacteremia

description: Presence of viable mycobacteria in the blood.


name: Cortical radial artery medial hypertrophy

description: Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


Semilobar holoprosencephaly

description: A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.


Single second heart sound

description: The second sound can remain single throughout the respiratory cycle due to either absence of one component or to synchronous occurrence of the two components. Since the pulmonary vascular impedance increases with age, many normal patients over age 50 have a single S2 or at most a narrow physiologic split on inspiration because P2 occurs early. A single second sound, however, is usually due to inability to auscultate a relatively soft pulmonic component. Such inability is rare in healthy infants, children, and young adults and is uncommon even in older persons under good auscultatory conditions using a rigid stethoscopic diaphragm.


blue nevus

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

description: An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative.


Breast intraductal papilloma

description: Intraductal papilloma is a benign tumor found within breast ducts. The abnormal proliferation of ductal epithelial cells causes growth. A solitary intraductal papilloma is usually found centrally posterior to the nipple affecting the central duct. Multiple intraductal papillomas are located peripherally, found in any breast quadrant affecting the peripheral ducts.


Abnormal skull base morphology

description: An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.


name: Elevated CSF alpha-ketoglutarate concentration

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


Abnormal thymus morphology

description: Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.


name: Symphalangism affecting the proximal phalanx of the 4th toe


2:1 atrioventricular block

description: A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex.


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


Abnormal bronchus morphology

description: Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.


Lambda Bence Jones proteinuria

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


name: Abnormal CD69 upregulation upon TCR activation

description: Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus.


Vaginal adenosis

description: Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.


name: Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions.


C4 nephritic factor positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement.


hereditary gingival fibromatosis

description: Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.


Abnormal growth hormone level

description: Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.


combined immunodeficiency

description: A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.


Abnormal vomer morphology

description: An abnormality of the vomer.


Hypertaurinemia

description: An increased amount of taurine in the blood.


Subungual hyperkeratosis

description: A thickening of the stratum corneum in the region beneath the nails.


L-shaped kidney

description: A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney.


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


Polyclonal elevation of circulating IgE

description: A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis.


name: Multifocal hypointensity of cerebral white matter on MRI


Hyposmia

description: A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).


Abnormal urinary bile acid level

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


Abnormal social behavior

description: An abnormality of actions or reactions of a person taking place during interactions with others.


EEG abnormality

description: Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.


Renal tubular epithelial cell apoptosis

description: Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris.


Decreased serum zinc

description: A reduced concentration of zinc in the blood.


Abnormality of the plantar skin of foot

description: An abnormality of the plantar part of foot, that is of the soles of the feet.


name: Contracture of the proximal interphalangeal joint of the 2nd finger

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


Poor suck

description: An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.


name: Patchy sclerosis of the distal phalanx of the 5th toe

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


name: Incomplete ossification of palatine bone

description: Failure to complete ossification (maturation and calcification) of the palatine bone.


name: Partial duplication of the middle phalanx of the 4th toe

description: Partial duplication of middle phalanx of fourth toe.


name: Delayed self-feeding during toddler years

description: A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age).


Increased fetal long bone echogenicity

description: An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. This finding is due to hypermineralization.


Arterial rupture

description: Sudden breakage of an artery leading to leakage of blood from the circulation.


name: congenital unilateral hypoplasia of depressor anguli oris

description: Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).


name: Neonatal wrinkled skin of hands and feet


Abdominal aortic calcification

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


name: Focal impaired awareness non-motor seizure

description: A focal non-motor seizure characterized by impaired awareness at some point during the seizure.


Recurrent viral skin infections

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


Perisylvian FDG hypermetabolism

description: 18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure.


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


Abnormal U wave

description: An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.


Appendicular spasticity

description: A type of spasticity that affects one or more limbs (arms or legs).


Urate tophus

description: Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi.


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


Long-segment aganglionic megacolon

description: A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.


Notched T wave

description: A bifid T-wave with a notch duration between the 2 peaks at leasy 0.04 sec and an amplitude at least 0.05 mV.


Perisylvian polymicrogyria

description: Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.


name: Increased circulating nicotinurate level

description: An increased amount of nicotinurate in the blood.


name: Fatigable weakness of respiratory muscles

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


Short phalanx of hallux

description: Underdevelopment (hypoplasia) of a phalanx of big toe.


Pulmonary arteriovenous fistulas

description: A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.


Dysgenesis of the hippocampus

description: Structural abnormality of the hippocampus related to defective development.


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


Abnormal maxilla morphology

description: An abnormality of the Maxilla (upper jaw bone).


Erythrodontia

description: Reddish, brown opalescent discoloration of teeth in normal light.


Fetal extra-axial hemorrhage

description: A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space).


Dissociated sensory loss

description: A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.


Parietal hypometabolism in FDG PET

description: Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.


name: Decreased proportion of naive CD4 T cells

description: An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.


Atrophic scars

description: Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.


Potter sequence

description: A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure.


partial motor epilepsy

description: A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles.


Cerebral venous angioma

description: A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.


Decreased circulating total IgG

description: A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.


name: Hypoplasia of the abdominal wall musculature

description: Underdevelopment of the abdominal musculature.


Anti-GM2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2.


Aerophagia

description: Repetitive air swallowing and belching and that may result in abdominal distention.


Eosinophilic dermal infiltration

description: Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.


Excessive cleaning

description: Excessive cleaning of surfaces, living space, or environment that is excessive for the situational context.


Abnormal midface morphology

description: An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.


name: Abnormal CD4+CD25+ regulatory T cell proportion

description: A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.


name: Abnormal mandible condylar process morphology

description: An abnormality of a mandible condylar process.


Ectopic parathyroid

description: An abnormal anatomical location of the parathyroid gland.


Radial artery aplasia

description: Congenital absence of the radial artery.


Beaked nails

description: Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit.


polydactyly, postaxial, type A1

description: A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.


name: Abnormal medullary peritubular capillary lumen morphology

description: Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney.


midline cervical cleft

description: Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.


idiopathic anaphylaxis

description: Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.


Female fetal virilization

description: Fetal masculinization of female external genitalia.


Carotid sinus syncope

description: An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion.


name: Decreased circulating catecholamine concentration

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


Disseminated cryptosporidium infection

description: Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body.


Acute infectious pneumonia

description: Acute inflammation of the lung due to an infection.


Adenocarcinoma of the intestines

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


Elevated CSF DOPA concentration

description: Concentration of DOPA (3,4-dihydroxyphenylalanine) in the cerebrospinal fluid above the upper limit of normal.


Abnormality of the head

description: An abnormality of the head.


Tenesmus

description: A repeated, painful urge to defecate without excreting stool.


Tooth avulsion

description: A type of dental trauma characterized by total dislocation of the tooth from its socket.


name: Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology

description: A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.


name: Duplication of the middle phalanx of the 5th toe

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


Honeycomb palmoplantar hyperkeratosis

description: Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.


Dysgyria with thickened cortex

description: An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria.


Anti-ITPR1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1).


name: Interphalangeal joint contracture of finger

description: Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.


Focal cortical dysplasia type Ic

description: A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination.


Gottron's papules

description: Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints.


Neurogenic claudication

description: Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine.


Hypsarrhythmia

description: Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).


name: Lower extremity peripheral arterial calcification

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


chronic rhinitis

description: Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough.


Absent hippocampal commissure

description: Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum.


Renal salt wasting

description: A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).


IgG4 autoimmune antibody positivity

description: The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues.


name: Increased circulating androgen concentration

description: An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.


name: Cortical peritubular capillary lumen cholesterol emboli

description: Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


name: Foam cells with lamellar inclusion bodies

description: The presence of foam cells that contain lamellar inclusion bodies.


Carotid paraganglioma

description: A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.


Iliac arterial calcification

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


Right ventricular regional akinesia

description: A region of the right ventricle exhibits absent contraction (akinesia) compared to the rest of the ventricle.


name: Renal arteriole intima/media crystal accumulation

description: Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney.


Lateral ventricular asymmetry

description: Abnormal difference in size between the left and right lateral cerebral ventricles.


Functional intestinal obstruction

description: The blockage of bowel contents from evacuation; the causes are attributable to non-structural impediments, such as chemical imbalances or the side effects of medications, narcotics in particular.


Persistent head lag

description: The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes.


Hypoplasia of the corpus callosum

description: Underdevelopment of the corpus callosum.


Single umbilical artery

description: Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.


Posterior cerebral artery stenosis

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


name: Focal impaired awareness epileptic spasm

description: A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.


solar urticaria

description: Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation.


name: Abnormal circulating 18-hydroxycorticosterone level

description: Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.


Neck teratoma

description: A teratoma located in the neck.


Abnormal sacroiliac joint morphology

description: An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).


name: Elevated circulating 17-hydroxyprogesterone concentration

description: An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.


Nightmares

description: Frightening dreams, typically occurring during REM sleep, are normal and common in children under 10. However, they can also impact teenagers and adults.


Exaggerated median tongue furrow

description: Increased depth of the median tongue furrow.


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


Intratubular leukocyte casts

description: Casts that contain white blood cells and are located within the tubuli of the kidney.


Abnormal leukocyte count

description: Number of leukocytes per volume of blood beyond normal limits.


name: Impaired growth-hormone response to glucagon stimulation test

description: Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test.


Arcuate vein lumen cholesterol emboli

description: Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


Decreased total iron binding capacity

description: A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.


Abnormal abdomen morphology

description: A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.


name: Cone-shaped epiphysis of the distal phalanx of the hallux


2-3-layered lissencephaly

description: Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity.


name: Abnormally loud pulmonic component of the second heart sound


name: Prelingual sensorineural hearing impairment

description: A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.


Abnormality of the maxillary sinus

description: An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity.


Aplasia/Hypoplasia of the hallux

description: Absence or underdevelopment of the big toe.


Wilson sign

description: Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia.


Sebaceous hyperplasia

description: A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.


Hyaline casts

description: A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.


Widely spaced toes

description: An overall widening of the spaces between the digits.


congenital pseudoarthrosis of clavicle

description: Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.


name: Duplication of the proximal phalanx of the 2nd toe

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


meningoencephalocele

description: A congenital abnormality in which the meninges protrude through a defect in the cranium.


Duplication of phalanx of hallux

description: Partial or complete duplication of one or more phalanx of big toe.


Gait disturbance

description: The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.


Renal artery aneurysm

description: Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment.


Inguinal lymphadenopathy

description: Enlarged lymph node located in the inguinal region (groin).


Anti-GD1a IgG antibody positivity

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


Supraauricular pit

description: Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.


name: Abnormal dermoepidermal hemidesmosome morphology

description: An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.


Reading-induced seizure

description: A seizure precipitated by reading.


Elevated urinary saccharopine level

description: The amount of saccharopine in the urine, when normalized to urine concentration, is above the upper limit of normal.


Renal lymphocytic tubulitis

description: Infiltration of the renal tubular epithelium by lymphocytes.


Recurrent bacterial skin infections

description: Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.


name: Insulin-resistant diabetes mellitus at puberty


Reduced brain glutamate level by MRS

description: An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS).


name: Elevated circulating hyaluronic acid concentration

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


Transient decreased circulating IgD

description: A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation.


name: Abnormal cutaneous collagen fibril morphology


Claw toe deformity

description: Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints.


Elevated urinary 4-hydroxybutyric acid

description: An increased amount of 4-hydroxybutyric acid in the urine.


Short second metatarsal

description: Short (hypoplastic) second metatarsal bone.


1-2 toe syndactyly

description: Syndactyly with fusion of toes one and two.


name: Partial left sided absence of pericardium

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


Disseminated dermatophytosis

description: A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs.


Annular cutaneous lesion

description: A lesion of the skin with a ring-like distribution.


name: Anti-parotid secretory protein antibody positivity

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


Axillary lymphadenopathy

description: Enlarged lymph node located in the axillary region (armpit).


name: Abnormal circulating fatty-acid anion concentration

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


name: Osteolytic defects of the middle phalanx of the 3rd finger

description: Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger.


Abnormal blood chloride concentration

description: An abnormality of chloride homeostasis or concentration in the body.


Elevated diastolic blood pressure

description: Abnormal increase in diastolic blood pressure.


Abnormal tubulointerstitial morphology

description: An abnormality that involves the tubules and interstitial tissue of the kidney.


Hypomelanotic macule

description: Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.


Hypofibrinogenemia

description: Decreased concentration of fibrinogen in the blood.


name: Focal impaired awareness motor seizure with version

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


Tetraparesis

description: Weakness of all four limbs.


name: Thyrotoxicosis with toxic single thyroid nodule


Clitoral hypoplasia

description: Developmental hypoplasia of the clitoris.


Curved proximal phalanx of the 2nd toe

description: A deviation from the normal straight form of the proximal phalanx of the 2nd toe.


Fractured right clavicle

description: A partial or complete breakage of the right clavicle.


Cardiac shunt

description: Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.


name: Abnormal cardiovascular system morphology

description: Any structural anomaly of the heart and blood vessels.


name: Abnormal morphology of the great vessels

description: A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.


Increased HDL3c concentration

description: An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.


Bulbar urethral stricture

description: A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis.


name: Focal impaired awareness cognitive seizure with auditory agnosia

description: A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure.


Adrenal calcification

description: Calcification within the adrenal glands.


Choroid plexus calcification

description: The presence of calcium deposition in the choroid plexus.


Arcuate artery lumen organized thrombi

description: Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney.


name: Abnormal epidermis stratum granulosum morphology

description: An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum.


name: Symphalangism affecting the proximal phalanx of the 2nd toe


Chvostek sign

description: A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve.


Salivary gland oncocytoma

description: A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria)


Anti-periplakin antibody positivity

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


Male urethral meatus stenosis

description: An abnormal narrowing of the urethral opening (meatus) of the penis.


name: Aplasia/Hypoplasia of the distal phalanx of the 4th toe


name: T-wave inversion in the right precordial leads


name: Arcuate artery endoarterial hypercellularity

description: Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney.


name: Developmental stagnation at onset of seizures

description: A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy.


Pseudohyperkalemia

description: Pseudohyperkalemia describes a falsely elevated potassium level upon measurement of the serum electrolyte concentration due to disruption of cells during the collection or processing of the sample.


name: Aplasia/Hypoplasia involving bones of the feet


malignant pleural mesothelioma

description: A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive.


ectopia cordis

description: A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations.


cervical vertebral dysplasia

description: Dysplasia of the cervical vertebral column.


Conical tooth

description: An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.


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


name: congenital high-molecular-weight kininogen deficiency

description: A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.


name: Focal aware autonomic seizure with pallor/flushing

description: A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure.


name: Triangular shaped proximal phalanx of the 2nd toe


name: Symphalangism affecting the distal phalanges of the toes


Decreased serum anion gap

description: An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).


Agenesis of maxillary lateral incisor

description: Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.


name: Abnormal superior cerebellar peduncle morphology

description: An anomaly of the superior cerebellar peduncle.


name: Increased hepatitis C virus antibody level

description: An abnormally increased level of immunoglobulin against hepatitis C virus in the blood.


description: Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired.


name: Abnormality of the pulmonary vasculature


Short proximal phalanx of hallux

description: Underdevelopment (hypoplasia) of the proximal phalanx of big toe.


name: Abnormal fetal gastrointestinal system morphology

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


Facial diplegia

description: Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).


Slow-growing hair

description: Hair whose growth is slower than normal.


Small placenta

description: Reduced size of the placenta.


Pleuritic chest pain

description: Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling.


agenesis of cerebral white matter

description: Congenital defect with failure of the development of the cerebral white matter.


No social interaction

description: Lack of intentional participation in interactions with another person.


name: Right ventricular noncompaction cardiomyopathy

description: A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.


Cervical subluxation

description: A partial dislocation of one or more intervertebral joints in the cervical vertebral column.


Cavum septum pellucidum

description: If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.


Pharyngalgia

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat.


name: Focal motor seizure with dysarthria/anarthria

description: A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible.


name: Osteolytic defects of the phalanges of the 2nd toe


name: EEG with generalized slow activity grade 4

description: EEG without electrical activity.


name: Focal aware sensory seizure with somatosensory features

description: A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure.


name: Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal


Astasia

description: A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength.


Pancreatic islet-cell hyperplasia

description: Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.


name: Abnormal CD25 upregulation upon TCR activation

description: Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression.


EEG with focal spike waves

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


name: Duplication of the distal phalanx of the 4th toe

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


Emotional insecurity

description: A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability, which is perceived as threatening.


Hypoplasia of the ventral pons

description: Underdevelopment of the ventral portion of the pons.


Woolly scalp hair

description: The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.


Abnormal nail growth

description: Nail whose growth pattern or speed deviates from normal.


Hyperproteinemia

description: An increased concentration of proteins in the blood.


Abnormal bleeding

description: An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.


Podagra

description: Gout affecting the Metatarsophalangeal joint of big toe.


Abnormal T cell morphology

description: An abnormality of T cells.


Immunologic hypersensitivity

description: Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens.


Abnormality of the intrinsic pathway

description: An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.


bladder diverticulum

description: A pouch or sac-like protrusion in the bladder wall.


name: Increased urine phenylacetylglutamine level

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


Pseudobulbar affect

description: Pseudobulbar affect (PBA) is characterized by uncontrolled crying or laughing which may be disproportionate or inappropriate to the social context. Thus, there is a disparity between the patient's emotional expression and his or her emotional experience.


Maternal vascular malperfusion

description: Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities.


Cloacal abnormality

description: A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate.


ankylosis

description: Fixation and immobility of a joint.


Renal malrotation

description: An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.


aganglionosis, total intestinal

description: A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder.


Elevated hepatic iron concentration

description: An increased level of iron in liver tissues.


Pretibial myxedema

description: A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet.


Abnormal CSF tryptophan concentration

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


Fractured sternal end of clavicle

description: A partial or complete breakage of the sternal end of clavicle.


name: Symphalangism affecting the distal phalanx of the 2nd toe


Chronic calcifying pancreatitis

description: A form of chronic pancreatitis that is characterized by calcification.


name: Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries

description: A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA).


Cerebellar Purkinje layer atrophy

description: Atrophy of the cerebellum affecting primarily the Purkinje cell layer.


Serrated intestinal polyps

description: The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification.


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


Hypoplastic toenails

description: Underdevelopment of the toenail.


Fetal intraventricular hemorrhage

description: A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain.


Elevated fecal osmolality

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


Posterior fossa cyst

description: A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.


name: Renal arteriole intima/media coagulative necrosis

description: A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


description: Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography.


Darier's sign

description: A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP.


name: Aplasia/Hypoplasia of the phalanges of the hallux


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

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


Bilateral cleft palate

description: Nonmidline cleft palate on the left and right sides.


Increased cotinine level

description: Increased concentration of cotinine in urine.


Paradoxical insomnia

description: Paradoxical insomnia is a condition in which individuals with a normal or near-normal sleep macrostructure tend to severely underestimate the quantity and quality of their sleep.


Perioral hyperkeratosis

description: Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth.


cancer

description: A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas.


name: Abnormal circulating unsaturated fatty acid concentration

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


Gelatinous ascites

description: A type of ascites characterized by copious amounts of mucinous ascites and mucinous peritoneal implants, leading to progressive obliteration of the peritoneal cavity and intestinal obstruction.


Unilateral vertebral artery hypoplasia

description: Underdevelopment of the vertebral artery on one side.


Breast hypoplasia

description: Underdevelopment of the breast.


Frontotemporal hypertrichosis

description: Excessive, increased hair growth located in the region of the forehead and temple.


Multiple unerupted teeth

description: The presence of multiple embedded tooth germs which have failed to erupt.


Steroetypic movements of face and head

description: Abnormal movements of face and head.


name: Pancreatic islet beta cell iron deposition

description: Accumulation of abnormally high amounts of iron in beta cells of the pancreas.


Abnormal jugular venous pressure

description: An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure.


Pituitary spindle cell oncocytoma

description: A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular.


name: Hereditary nonpolyposis colorectal carcinoma


olivopontocerebellar atrophy

description: A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives.


Extrapyramidal muscular rigidity

description: Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).


Leukocyte migration defect

description: Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization.


name: Impaired cortisol response to corticotropin releasing hormone stimulation test

description: Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test.


Long-chain dicarboxylic aciduria

description: An increase in the level of long-chain dicarboxylic acid in the urine.


Abnormal skeletal morphology

description: An abnormality of the form, structure, or size of the skeletal system.


Sclerosis of proximal finger phalanx

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


name: Duplication of the proximal phalanx of the 4th finger

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


Hypocystinemia

description: A decreased amount of cystine in the blood.


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

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger.


name: Decreased circulating free T4 concentration

description: A reduced concentration of free thyroxine (fT4) in the blood circulation.


Unusual fungal infection

description: An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent.


Capillary fragility

description: Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises).


Positive direct antiglobulin test

description: A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction.


name: Complete duplication of the phalanges of the 4th finger

description: A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


Thin myocardium compact layer

description: Reduced thickness of the outer, dense layer of the myocardium.


Elevated urinary homovanillic acid

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


Recurrent bronchopulmonary infections

description: An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.


GM1 gangliosidosis

description: A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.


Anteriorly placed anus

description: Anterior malposition of the anus.


Progressive alopecia

description: Progressive loss of hair.


Muscle arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in muscle tissue.


Ridged nail

description: Longitudinal, linear prominences in the nail plate.


Juxtaductal coarctation of the aorta

description: Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch.


Caput medusae

description: Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins.


latex allergy

description: Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein.


name: Mediosternal, longitudinal streak of hypopigmentation


Absent natural killer cells

description: Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.


Midline sinus of philtrum

description: Pit in the midline of the philtral groove.


bicornuate uterus

description: The presence of a bicornuate uterus.


Renal artery duplication

description: The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body.


name: Mildly reduced left ventricular ejection fraction

description: A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent.


Methylmalonic aciduria

description: Increased concentration of methylmalonic acid in the urine.


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


Focal head nodding automatism seizure

description: A type of focal automatism seizure characterized by involuntary head nodding at onset.


Loud first heart sound

description: Abnormally increased volume of the first heart sound.


name: Abnormal renal corticomedullary differentiation

description: An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.


Partial absence of foot

description: An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals.


periapical granuloma

description: Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment.


Thick lower lip vermilion

description: Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).


Absent external genitalia

description: Lack of external genitalia in a male or female individual.


Olivary degeneration

description: Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata.


name: Increased anti-house dust mite IgE antibody level

description: Increased level of IgE antibody against house dust mites, a common allergen.


Digital constriction ring

description: A narrow segment of significantly reduced circumference of a digit.


Abnormality of the male genitalia

description: Abnormality of the male genital system.


Thoracic ectopia cordis

description: Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum.


brachydactyly type B1

description: Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene.


Diffuse pulmonary lymphoid hyperplasia

description: Diffuse lymphoid hyperplasia (DLH) describes the pathological entity that lies between follicular bronchiolitis and lymphocytic interstitial pneumonia (LIP). It is pathologically characterized by a diffuse peribronchiolar proliferation of hyperplastic lymphoid follicles (BALT), extended along the lymphatics to involve the interlobular septa and pleura. Unlike LIP, DHL does not show uniform involvement of the alveolar septa.


Abnormal circulating IgA level

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


name: Abnormal amyloid beta peptide CSF concentration

description: Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid.


Flexion contracture of 3rd toe

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


Recurrent opportunistic infections

description: Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.


Intratubular vancomycin casts

description: Intratubular casts composed of vancomycin aggregates and uromodulin.


name: congenital non-bullous ichthyosiform erythroderma

description: A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.


name: Reduced contraction of the left ventricular apex

description: Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography.


name: Decreased specific antibody response to polysaccharide vaccine

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


Ocular dyssynergia

description: A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field.


name: Abnormal circulating long-chain fatty-acid concentration

description: Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation.


Increased caudate lactate level

description: An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging.


Thromboembolic stroke

description: A cerebrovascular accident (stroke) that occurs because of thromboembolism.


1-5 toe syndactyly

description: Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).


Recurrent gastroenteritis

description: Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.


Lower limb spasticity

description: Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis


name: Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis

description: A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Hypoornithinemia

description: An abnormal decrease in ornithine in the blood.


juvenile nasopharyngeal angiofibroma

description: Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.


name: Anti-glomerular basement membrane-antibody positivity

description: The presence of autoantibodies in the serum that react to the glomerular basement membrane.


Abnormal oral morphology

description: Any structural anomaly of the mouth, which is also known as the oral cavity.


Narrow foot

description: A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.


Premature adrenarche

description: Onset of adrenarche at an earlier age than usual.


partial atrioventricular canal

description: Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.


name: Papillary dermis eosinophilic hyaline material

description: Accumulation of eosinophilic hyaline material observed around the papillary dermis and the blood vessels located in it. The papillary dermis is the uppermost layer of the dermis. It intertwines with the rete ridges of the epidermis and is composed of fine and loosely arranged collagen fibers.


Abnormal sperm tail morphology

description: A structural abnormality of the sperm tail.


name: Profound sensorineural hearing impairment

description: Complete loss of hearing related to a sensorineural defect.


Elevated pulmonary artery pressure

description: An abnormally elevated blood pressure in the circulation of the pulmonary artery.


name: Left aortic arch with cervical origin of the right subclavian artery


Abnormal cerebral subcortex morphology

description: An abnormality of the cerebral subcortex.


Aggressive behavior

description: Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).


Necrotizing encephalopathy

description: A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue.


Grade I vesicoureteral reflux

description: Vesicoureteral reflux into the ureter only.


Abnormal lymphocyte count

description: Any abnormality in the total number of lymphocytes in the blood.


Myocardial necrosis

description: Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).


Unilateral lump kidney

description: A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly.


Focal aware atonic seizure

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


Pseudo-chilblains on toes

description: Inflammatory chilblain-like nodules on the feet and/or toes.


Tibialis muscle weakness

description: Muscle weakness affecting the tibialis anterior muscle.


Anti-type VII collagen antibody

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


Abnormal LDL cholesterol concentration

description: Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.


Delayed fracture healing

description: A delay in healing of a fracture past the expected duration.


Multiple bladder diverticula

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


Pulmonary situs ambiguus

description: An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same.


name: Abnormal delayed hypersensitivity skin test

description: Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.


Tall chin

description: Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.


Increased urinary taurine

description: Increased concentration of taurine in the urine.


Patchy sclerosis of 3rd finger phalanx

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


Atrial situs ambiguous

description: Common atrium without defining morphologic features.


Submucous cleft of soft and hard palate

description: Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth.


Low-output congestive heart failure

description: A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes.


name: Abnormal communicative facial expressions

description: Abnormal expressions (movements or position of muscles of the face that convey the emotional state of an individual to observers during social interactions) comprising abnormalities of quantity, range, context-appropriateness, and quality.


Lymphoid nodular hyperplasia

description: Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236).


name: Progressive sensorineural hearing impairment

description: A progressive form of sensorineural hearing impairment.


name: Decreased circulating nicotinamide adenine dinucleotide concentration

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


name: Decreased number of small peripheral myelinated nerve fibers


inherited obesity

description: Abnormally low body weight.


Sertoli cell tumor

description: A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course.


Osteoporosis of vertebrae

description: Osteoporosis affecting predominantly the vertebrae.


Chronic (near) absent circulating IgG2

description: A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured.


Neurofibrillary tangles

description: Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.


name: Abnormal circulating membrane cofactor protein concentration

description: Concentration of membrane cofactor protein in the blood circulation outside the limits of normal. Membrane cofactor protein (MCP, CD46) is a cell surface complement regulatory protein which acts as a cofactor for the factor I-mediated cleavage of the activated complement components C3b/C4b.


Long philtrum

description: Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.


Hypoplasia of lymphatic vessels

description: Congenital underdevelopment of lymph vessels.


Incomplete cleft soft palate

description: Cleft soft palate in which the cleft does not go through the entire length of the soft palate, i.e. the cleft does not go from the posterior border of the hard palate until the uvula.


Severe receptive language delay

description: A severe delay in the acquisition of the ability to understand the speech of others.


name: Abnormal tubular basement membrane morphology

description: Abnormal structure of the basement membrane of the renal tubulus.


Uterine cyst

description: A closed sack of tissue (cyst) located in the uterus.


name: Elevated aortic transvalvular pressure gradient

description: The gradient (in this case, drop) in pressure across the aortic valve is above the upper limit of normal.


name: Abnormal circulating glycine concentration

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


Anti-class I HLA antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C).


Focal emotional seizure with agitation

description: Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.


White lesion of the oral mucosa

description: White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white.


Spinal lipoma

description: A lipoma that is localized to the spine.


Anti-BP180 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against BP180.


Patchy sclerosis of middle toe phalanx

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


Focal aware cognitive seizure

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


name: Blebbing of apical cytoplasm of renal tubular epithelial cells

description: Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule.


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


name: Abnormal proportion of double-negative alpha-beta regulatory T cell

description: An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.


Aplasia/Hypoplasia of the pancreas

description: A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.


Hydromyelia

description: Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.


Lower extremity hypokinesia

description: Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.


Abnormal pineal melatonin secretion

description: An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland.


Intention tremor

description: A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).


name: Elevated circulating 4-hydroxyphenylacetic acid concentration

description: The concentration of 4-Hydroxyphenylacetic acid in the blood circulation is above the upper limit of normal.


Maxillary lateral incisor microdontia

description: Decreased size of the maxillary permanent incisor.


Green teeth

description: A green staining of teeth.


name: Decreased circulating dehydroepiandrosterone-sulfate concentration

description: A reduced concentration of dehydroepiandrosterone-sulfate in the blood.


Decreased CSF glutamine concentration

description: Abnormally decreased levels of glutamine in cerebrospinal fluid.


Breakthrough pain

description: A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain.


Polyminimyoclonus

description: Minipolymyoclonus or polyminimyoclonus is a hyperkinetic movement disorder phenomenology characterized by intermittent, low-amplitude, arrhythmic movements of the hands, commonly of several fingers, with amplitudes just sufficient to produce visible and palpable movements of the joints. It is mostly noticed while the individual is maintaining a posture (commonly outstretched hands) or during action (especially the initial phase of movement).


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


Synesthesia

description: A phenomenon whereby stimulation of one sensory or cognitive pathway leads to automatic, involuntary experiences in a second sensory or cognitive pathway. For instance, people with synaesthesia may experience unusual colors, tastes, and other sensations when engaged in everyday activities like reading or listening to music.


Congenital posterior occipital alopecia

description: Loss of hair in the occipital region of the scalp with congenital onset.


name: Permanent junctional reciprocating tachycardia

description: An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction.


Rigors

description: Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever.


Short 3rd toe

description: Underdevelopment (hypoplasia) of the third toe.


Type III atherosclerotic lesion

description: Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions.


name: Adrenocorticotropin deficient adrenal insufficiency

description: Adrenal insufficiency secondary to a defect in ACTH production.


name: Focal emotional seizure with fear/anxiety/panic

description: Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.


Flexion contracture of the hallux

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


name: Non-convulsive status epilepticus with coma

description: A type of status epilepticus without prominent motor symptoms and in the presence of coma.


name: Abnormal brainstem white matter morphology

description: An anomaly of the white matter of brainstem.


Decreased CSF isoleucine concentration

description: Abnormally decreased levels of isoleucine in cerebrospinal fluid.


name: Impaired growth-hormone response to insulin stimulation test

description: Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).


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


Diminished motivation

description: A reduction in goal-directed behavior, that is, motivation, is the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.


Ingrown nail

description: Excessive growth of a nail laterally into the nail fold.


Obtuse angle of mandible

description: Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.


Abnormality of the submandibular glands

description: Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles.


name: Thickening of the tubular basement membrane

description: Increase in thickness of the basement membrane of the tubulus of the kidney.


Hyperpyrexia

description: An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit).


vulval varices

description: A varicose disease that involves the mammalian vulva.


Increased circulating globulin level

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


Biliary tract obstruction

description: Obstruction affecting the biliary tree.


name: Postural hypotension with compensatory tachycardia


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


Parietal foramina

description: The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.


name: Abnormal pulmonary alveolar system development


Criss-cross atrioventricular valves

description: Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis.


name: Increased number of elastic fibers in the dermis

description: An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods.


name: Marked delay in eruption of permanent teeth


Increased anti-fungi IgE antibody level

description: Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota.


name: Pseudoepiphysis of the distal phalanx of the hallux


name: Malignant neoplasm of the central nervous system

description: A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.


Hemiareflexia

description: Areflexia that is limited to one side of the body.


Cervicomedullary schisis

description: Fissure within the spinal cord of the neck.


Midline hand movements

description: Hand stereotypies within the medial plane of the body.


Abnormality of the dentition

description: Any abnormality of the teeth.


Maceration

description: A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue.


leiomyoma cutis

description: A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


Peripheral amyelination

description: Congenital absence of the myelin sheath on a nerve.


Multiple digital exostoses

description: Multiple exostoses originating in the fingers and toes.


Hyaline membranes

description: Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult.


Abnormal left atrium morphology

description: Any structural abnormality of the left atrium.


Lingual thyroid

description: An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend.


Foot joint contracture

description: Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.


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


Focal-onset seizure

description: A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.


name: Elevated circulating aspartate aminotransferase concentration

description: The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.


Renal tubular epithelial cell swelling

description: Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen.


Focal hemifacial clonic seizure

description: Focal seizure characterized at onset by clonic movements affecting half of the face.


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


Persistence of primary teeth

description: Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.


White forelock

description: A triangular depigmented region of white hairs located in the anterior midline of the scalp.


histidinemia

description: Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.


Frontoethmoidal meningocele

description: A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones.


Pigment gallstones

description: Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.


follicular infundibulum tumor

description: A tumor involving the follicular infundibulum.


Medial arterial calcification

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


Decreased testicular size

description: Reduced volume of the testicle (the male gonad).


Fatigable weakness of skeletal muscles

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


Stiff skin

description: An induration (hardening) of the skin