Chronic axonal neuropathy

An abnormality characterized by chronic impairment of the normal functioning of the axons.


Spinal neurofibroma

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A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine.


Cerebral artery calcification

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


Calcification of falx cerebri

The presence of calcium deposition in the falx cerebri.


Stippled calcification in carpal bones

Point-shaped (punctate) calcifications affecting the carpal bones.


primary aldosteronism

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An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache.


Triangular epiphysis of the distal phalanx of the 4th finger

A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Decreased alveolar volume

An abnormal reduction in alveolar volume.


Fractured distal phalanx of manual digit 2

A partial or complete breakage of the distal phalanx of manual digit 2.


EEG with generalized polyspikes

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


Abnormal circulating creatine concentration

A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells.


Renal arteriole intima/media amyloidosis

Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.


Perinephric fluid collection

An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography.


Aplasia/Hypoplasia of the ear

The presence of aplasia or developmental hypoplasia of the ear.


Labiomental fasciculations

Fasciculations affecting the tongue muscle and the musculature of the chin.


Short chordae tendineae of the tricuspid valve

Abnormally short chordae tendineae of the tricuspid valve.


Elevated circulating homoarginine concentration

Concentration of homoarginine in the blood circulation above the upper limit of normal.


Anti-citrullinated protein antibody positivity

The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen.


Glomerular endocapillary foam-cell hypercellularity

Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space.


Toe syndactyly

Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".


Axial muscle weakness

Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).


Abnormality of ophthalmic artery

Abnormality of the first branch of the internal carotid artery.


Rectal atresia

A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.


Short metacarpals with rounded proximal ends


Limited knee extension

Reduced ability to extend (straighten) the knee joint.


Increased circulating myristoleate level

An abnormally high concentration of myristoleate in the blood circulation.


Diastema

Increased space between two adjacent teeth in the same dental arch.


Segmental glomerulosclerosis away from the vascular and tubular poles

Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.


Cortical radial artery foam cell hypercellularity

A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney.


Hepatic arteriovenous malformation

A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the liver.


Juvenile type ovarian granulosa cell tumor

Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type.


Medially deviated second toe

Medial deviation of the second toe.


Sparse facial hair

Reduced number or density of facial hair.


multiple epiphyseal dysplasia

Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6.


Abnormal urine hormone level

An abnormal concentration of a hormone in the urine.


Pineal cyst

A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.


Chronic CSF lymphocytosis

Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.


Common carotid artery aneurysm

An abnormal widening (dilatation) of the common carotid artery.


Delusion of persecution

False beliefs or perceptions in which a person believes that they are being treated with malicious intent, hostility, or harassment - despite significant evidence to suggest otherwise.


Fractured ilium

A partial or complete breakage of the ilium.


Abnormality of the middle ear ossicles

An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).


Abnormal infraorbital artery morphology

An abnormality of an infraorbital artery.


Anti-contactin-1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1.


Cold-induced hemolysis

A form of hemolytic anemia that can be triggered by cold temperatures.


Tuberous xanthoma

A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.


Focal pedal automatism seizure

A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.


Abnormal emotion

Abnormalities in the intensity, frequency, or duration of emotional experiences.


Cortical subperiosteal resorption of humeral metaphyses


Swollen achromatic neurons in the cerebral cortex

The presence of enlarged and swollen neurons that lack Nissl bodies (the rough endoplasmic reticulum-achromasia refers to neurons that lack Nissl bodies) in the cortex of the brain.


Abnormal synovial bursa morphology

A structural anomaly of a synovial bursa.


Chaddock reflex

A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract.


generalized lipodystrophy

Almost complete absence of subcutaneous and/or visceral adipose tissue.


polymicrogyria, bilateral perisylvian, X-linked

A type of perisylvian polymicrogyria that affects both sides of the brain.


Cellular urinary casts

A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells).


Abnormal heart valve physiology

Any functional abnormality of a cardiac valve.


Abnormality of the twelfth cranial nerve.


Vascular granular osmiophilic material deposition

Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.


twin to twin transfusion syndrome

Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated


Congenital sensorineural hearing impairment

A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.


trigonocephaly 1

Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.


Decreased circulating apolipoprotein concentration

Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein).


Facial palsy secondary to cranial hyperostosis

Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.


Abnormal hand bone ossification

An abnormality of the formation and mineralization of any bone of the skeleton of hand.


Increased hepatitis A virus antibody level

An abnormally increased level of immunoglobulin against hepatitis A virus in the blood.


Triangular epiphysis of the middle phalanx of the 2nd toe


Continuous heart murmur

A murmur that occurs in both systole and diastole.


Elevated circulating CHI3L1 level

Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation.


Fragmentation of the epiphyses of the proximal phalanges of the hand


renal agenesis, unilateral

Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.


Symptomatic seizures

A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.


Duplication of the middle phalanx of the 4th toe

Partial or complete duplication of middle phalanx of fourth toe.


Decreased interpersonal communication

Reduced information exchange between individuals.


Pansynostosis

Craniosynostosis of all calvarial sutures.


Synkinesis

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


Thickened skin

Laminar thickening of skin.


Diaphyseal sclerosis

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


Aplasia/Hypoplasia of the fifth metatarsal bone


Pulmonary opacity

Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality.


Abnormal natural killer cell morphology

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.


Patchy sclerosis of the distal phalanx of the 4th finger

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


Hypoplastic pubic bone

Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.


Complete cleft of the upper lip

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


Thyrotoxicosis from ectopic thyroid tissue


Low neutrophil alkaline phosphatase

An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.


Perineal hemangioma

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


Poikilocytosis

The presence of abnormally shaped erythrocytes.


Acute respiratory acidosis

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).


Extra-axial cerebrospinal fluid accumulation

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


Fractured middle phalanx of pedal digit 3

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


Villous hypertrophy of choroid plexus

Overgrowth of the choroid plexus.


Metaphyseal cupping of metacarpals

Metaphyseal cupping affecting the metacarpal bones.


Square pelvis bone

An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.


Increased heart rate variability

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


Juvenile aseptic necrosis

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

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


Small epiphysis of the distal phalanx of the 4th finger

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


T cell chronic lymphocytic lymphoma/leukemia

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.


Retropharyngeal hemangioma

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.


Elevated serum transaminases during infections

Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections.


Abnormal oral cavity morphology

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


Reduced circulating fibronectin level

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


limited cutaneous systemic sclerosis

Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.


Abnormality of the spleen

An abnormality of the spleen.


Short proximal phalanx of the 3rd toe

Abnormal reduction in length of proximal phalanx of third toe.


Abnormality of the abdominal organs

An abnormality of the viscera of the abdomen.


Harlequin phenomenon

The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body.


Chin with H-shaped crease

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


Bilateral superior vena cava with bridging vein


Abnormal morphology of musculature of pharynx

An abnormality of any of the muscles of the pharynx.


Osseous stenosis of the external auditory canal


Cardiomyocyte degeneration

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


Mycobacterium bacteremia

Presence of viable mycobacteria in the blood.


Cortical radial artery medial hypertrophy

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


Semilobar holoprosencephaly

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


Early ossification of capital femoral epiphyses

Developmental acceleration of ossification of the proximal epiphysis of the femur.


Hyperchromic macrocytic anemia

A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin.


mongolian spot

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


Abnormal skull base morphology

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.


Aplasia of the middle ear ossicles

Absence of the middle ear ossicles, malleus, incus, and stapes.


xanthomatosis

A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.


Abnormal thymus morphology

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.


Symphalangism affecting the proximal phalanx of the 4th toe


2:1 atrioventricular block

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.


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


Complete duplication of the distal phalanges of the hand

A complete duplication affecting one or more of the distal phalanges of the hand.


Abnormal bronchus morphology

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


Abnormal CD69 upregulation upon TCR activation

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

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.


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

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

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


hereditary gingival fibromatosis

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

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.


Parenchymal consolidation

Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).


combined immunodeficiency

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

An abnormality of the vomer.


Hypertaurinemia

An increased amount of taurine in the blood.


Subungual hyperkeratosis

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


Eunuchoid habitus

A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).


L-shaped kidney

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.


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


Polyclonal elevation of circulating IgE

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


Multifocal hypointensity of cerebral white matter on MRI


Complete duplication of the proximal phalanges of the hand

A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an 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.


Abnormal social behavior

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


Renal tubular epithelial cell apoptosis

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

A reduced concentration of zinc in the blood.


Abnormality of the plantar skin of foot

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


Contracture of the proximal interphalangeal joint of the 2nd finger

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


Upper limb metaphyseal widening

Increased width (breadth) of metaphyses of the arms.


Poor suck

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


Patchy sclerosis of the distal phalanx of the 5th toe

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.


Incomplete ossification of palatine bone

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


Abnormality of the medullary cavity of the long bones

An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored.


Partial duplication of the middle phalanx of the 4th toe

Partial duplication of middle phalanx of fourth toe.


Delayed self-feeding during toddler years

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

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


congenital unilateral hypoplasia of depressor anguli oris

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).


Neonatal wrinkled skin of hands and feet


Abdominal aortic calcification

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


Focal impaired awareness non-motor seizure

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


Recurrent viral skin infections

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


Abnormal inner ear morphology

A structural anomaly of the internal part of the ear.


Enlarged epiphysis of the middle phalanx of the 5th toe


Abnormal U wave

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

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


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


Broad radial epiphyseal plate

Abnormal increase in width of the epiphyseal growth plate of the radius.


Long-segment aganglionic megacolon

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


Notched T wave

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

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.


Increased circulating nicotinurate level

An increased amount of nicotinurate in the blood.


Fatigable weakness of respiratory muscles

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

Underdevelopment (hypoplasia) of a phalanx of big toe.


Pulmonary arteriovenous fistulas

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


Dysgenesis of the hippocampus

Structural abnormality of the hippocampus related to defective development.


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


Abnormal maxilla morphology

An abnormality of the Maxilla (upper jaw bone).


Erythrodontia

Reddish, brown opalescent discoloration of teeth in normal light.


Fetal extra-axial hemorrhage

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

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


Decreased proportion of naive CD4 T cells

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


Atrophic scars

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

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.


Coarse metaphyseal trabecularization

Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms.


partial motor epilepsy

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

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

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


Acromelia of the lower limbs

Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments.


Anti-GM2 antibody positivity

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


Broad neck

Increased side-to-side width of the neck.


Cortical sclerosis of the iliac wing

Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing.


Eosinophilic dermal infiltration

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


Excessive cleaning

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


Abnormal sternal ossification

Any anomaly in the formation of the bony substance of the sternum.


Curved 1st metacarpal

A deviation from the normal straight shape of the first metacarpal.


Abnormal midface morphology

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.


Duplication of the 1st metacarpal

Partail or complete duplication of the first metacarpal bone.


Symphalangism affecting the proximal phalanx of the 5th finger

Fusion of the proximal phalanx of the 5th finger with another bone.


Abnormal CD4+CD25+ regulatory T cell proportion

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


Abnormal mandible condylar process morphology

An abnormality of a mandible condylar process.


Ectopic parathyroid

An abnormal anatomical location of the parathyroid gland.


Radial artery aplasia

Congenital absence of the radial artery.


Beaked nails

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

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


Abnormal medullary peritubular capillary lumen morphology

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


Bowed humerus

A bending or abnormal curvature of the humerus.


midline cervical cleft

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

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


Triangular epiphysis of the distal phalanx of the thumb

A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Female fetal virilization

Fetal masculinization of female external genitalia.


Carotid sinus syncope

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


Disseminated cryptosporidium infection

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


Acute infectious pneumonia

Acute inflammation of the lung due to an infection.


Adenocarcinoma of the intestines

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


Elevated CSF DOPA concentration

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


Horizontal inferior border of scapula

A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape).


Abnormality of the head

An abnormality of the head.


Tooth avulsion

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


Mild postnatal growth retardation

A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.


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

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


Duplication of the middle phalanx of the 5th toe

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


Honeycomb palmoplantar hyperkeratosis

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


Short 1st metacarpal

A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.


Fractured larynx

A partial or complete breakage of the larynx.


Dysgyria with thickened cortex

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


Anti-ITPR1 antibody

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


Interphalangeal joint contracture of finger

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

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


Gottron's papules

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


endomyocardial fibrosis

A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator.


Neurogenic claudication

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

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).


Lower extremity peripheral arterial calcification

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


Abnormal lower limb epiphysis morphology

An anomaly of one or more epiphyses of one or both legs.


chronic rhinitis

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

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.


IgG4 autoimmune antibody positivity

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


Increased circulating androgen concentration

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.


Cortical peritubular capillary lumen cholesterol emboli

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.


Foam cells with lamellar inclusion bodies

The presence of foam cells that contain lamellar inclusion bodies.


Carotid paraganglioma

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


Iliac arterial calcification

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.


Decreased post-bronchodilator forced vital capacity

An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication.


Abnormal nasal skeleton morphology

An abnormality of the nasal skeleton.


Renal arteriole intima/media crystal accumulation

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

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


Functional intestinal obstruction

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

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

Underdevelopment of the corpus callosum.


Absent epiphyses of the 5th finger

Absence of one or more epiphyses of the 5th finger.


Posterior cerebral artery stenosis

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


Proximal phalangeal periosteal thickening


Focal impaired awareness epileptic spasm

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


solar urticaria

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.


Abnormal circulating 18-hydroxycorticosterone level

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


Neck teratoma

A teratoma located in the neck.


Abnormality of the epiphysis of the distal phalanx of the 2nd finger


Abnormal sacroiliac joint morphology

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


Elevated circulating 17-hydroxyprogesterone concentration

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

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


Slender long bones with narrow diaphyses

Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.


Nasal mucosa vasculitis

Inflammation of blood vessels in the mucosa of the nasal cavity.


Exaggerated median tongue furrow

Increased depth of the median tongue furrow.


Unilateral radial aplasia

Missing radius bone on one side only associated with congenital failure of development.


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


Intratubular leukocyte casts

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


Impaired growth-hormone response to glucagon stimulation test

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


Arcuate vein lumen cholesterol emboli

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.


Proportionate short stature

A kind of short stature in which different regions of the body are shortened to a comparable extent.


Decreased total iron binding capacity

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

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


Dilated vestibule of the inner ear

Dilatation of the vestibule of the inner ear.


Cone-shaped epiphysis of the distal phalanx of the hallux


2-3-layered lissencephaly

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.


Arterial dissection

A separation (dissection) of the layers of an artery.


Abnormally loud pulmonic component of the second heart sound


Prelingual sensorineural hearing impairment

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


Abnormality of the maxillary sinus

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

Absence or underdevelopment of the big toe.


Wilson sign

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.


periventricular leukomalacia

Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles.


Triangular epiphysis of the 1st metacarpal


Sebaceous hyperplasia

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 elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.


Hyaline casts

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

An overall widening of the spaces between the digits.


congenital pseudoarthrosis of clavicle

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


Duplication of the proximal phalanx of the 2nd toe

Partial or complete duplication of proximal phalanx of second toe.


meningoencephalocele

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


Narrow nasal ridge

Decreased width of the nasal ridge.


Duplication of phalanx of hallux

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


Renal artery aneurysm

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

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


Anti-GD1a IgG antibody positivity

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


Supraauricular pit

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


Abnormal dermoepidermal hemidesmosome morphology

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

A seizure precipitated by reading.


Irregular epiphysis of the middle phalanx of the 4th finger

Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger.


Renal lymphocytic tubulitis

Infiltration of the renal tubular epithelium by lymphocytes.


Recurrent bacterial skin infections

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


Insulin-resistant diabetes mellitus at puberty


Elevated circulating hyaluronic acid concentration

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


Transient decreased circulating IgD

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


Abnormal cutaneous collagen fibril morphology


Claw toe deformity

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


Short second metatarsal

Short (hypoplastic) second metatarsal bone.


1-2 toe syndactyly

Syndactyly with fusion of toes one and two.


Partial left sided absence of pericardium

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


Disseminated dermatophytosis

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


Annular cutaneous lesion

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


Anti-parotid secretory protein antibody positivity

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


Axillary lymphadenopathy

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


Abnormal circulating fatty-acid anion concentration

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


Osteolytic defects of the middle phalanx of the 3rd finger

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


Decreased maximal oxygen uptake

Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill anad ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload.


Abnormal blood chloride concentration

An abnormality of chloride homeostasis or concentration in the body.


Elevated diastolic blood pressure

Abnormal increase in diastolic blood pressure.


Abnormal tubulointerstitial morphology

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


Hypomelanotic macule

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.


Focal impaired awareness motor seizure with version

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


Thyrotoxicosis with toxic single thyroid nodule


Bifid femur

A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.


Curved proximal phalanx of the 2nd toe

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


Fractured right clavicle

A partial or complete breakage of the right clavicle.


Cardiac shunt

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


Abnormal cardiovascular system morphology

Any structural anomaly of the heart and great vessels.


Abnormal morphology of the great vessels

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

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

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


Focal impaired awareness cognitive seizure with auditory agnosia

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


Adrenal calcification

Calcification within the adrenal glands.


Choroid plexus calcification

The presence of calcium deposition in the choroid plexus.


Arcuate artery lumen organized thrombi

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


Abnormal epidermis stratum granulosum morphology

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.


Symphalangism affecting the proximal phalanx of the 2nd toe


Chvostek sign

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


Salivary gland oncocytoma

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


oral cavity neoplasm

A neoplasm (disease) that involves the oral cavity.


Anti-periplakin antibody positivity

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


Male urethral meatus stenosis

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


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


T-wave inversion in the right precordial leads


Arcuate artery endoarterial hypercellularity

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


Pseudohyperkalemia

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.


Aplasia/Hypoplasia involving bones of the feet


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.


ectopia cordis

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

Dysplasia of the cervical vertebral column.


Conical tooth

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


Synostosis of the proximal phalanx of the thumb with the 1st metacarpal

Fusion of the proximal phalanx of the thumb with the 1st metacarpal.


congenital high-molecular-weight kininogen deficiency

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


Focal aware autonomic seizure with pallor/flushing

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


Triangular shaped proximal phalanx of the 2nd toe


Synostosis involving bones of the hand

An abnormal union between bones or parts of bones of the hand.


Pulmonary oligemia

Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow.


Symphalangism affecting the distal phalanges of the toes


Enlarged cochlear aqueduct

Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular.


Agenesis of maxillary lateral incisor

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


Abnormal superior cerebellar peduncle morphology

An anomaly of the superior cerebellar peduncle.


Increased hepatitis C virus antibody level

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


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


Abnormality of the pulmonary vasculature


Short proximal phalanx of hallux

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


Increased mid-arm muscle circumference

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


Abnormal fetal gastrointestinal system morphology

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

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


Slow-growing hair

Hair whose growth is slower than normal.


agenesis of cerebral white matter

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


No social interaction

Lack of intentional participation in interactions with another person.


Right ventricular noncompaction cardiomyopathy

A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.


Cervical subluxation

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


Cavum septum pellucidum

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

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


Abnormal 3rd metacarpal morphology

Any abnormality of the third metacarpal bone.


Focal motor seizure with dysarthria/anarthria

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.


Osteolytic defects of the phalanges of the 2nd toe


EEG with generalized slow activity grade 4

EEG without electrical activity.


Focal aware sensory seizure with somatosensory features

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.


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


Astasia

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


Pancreatic islet-cell hyperplasia

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


Abnormal CD25 upregulation upon TCR activation

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

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


Duplication of the distal phalanx of the 4th toe

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


Decreased uridine diphosphate glucose-4-epimerase level in red blood cells

A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


Emotional insecurity

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

Underdevelopment of the ventral portion of the pons.


Woolly scalp hair

The presence of woolly hair on the scalp. The term woolly 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

Nail whose growth pattern or speed deviates from normal.


Hyperproteinemia

An increased concentration of proteins in the blood.


Abnormal bleeding

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

Gout affecting the Metatarsophalangeal joint of big toe.


Abnormal T cell morphology

An abnormality of T cells.


Immunologic hypersensitivity

Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.


Abnormality of the intrinsic pathway

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


Childhood-onset short-trunk short stature

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.


Pseudoepiphysis of the distal phalanx of the 2nd finger

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


bladder diverticulum

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


Increased urine phenylacetylglutamine level

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


Pseudobulbar behavioral symptoms

Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.


Cloacal abnormality

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


Metacarpal synostosis

Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).


CSF hemophagocytosis

Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the cerebrospinal fluid (CSF).


Renal malrotation

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


aganglionosis, total intestinal

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

An increased level of iron in liver tissues.


laryngeal neoplasm

A benign or malignant neoplasm involving the larynx.


Pretibial myxedema

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

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


Abnormal calcification of the carpal bones


Fractured sternal end of clavicle

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


Symphalangism affecting the distal phalanx of the 2nd toe


Chronic calcifying pancreatitis

A form of chronic pancreatitis that is characterized by calcification.


Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries

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

Atrophy of the cerebellum affecting primarily the Purkinje cell layer.


Abnormality of the middle phalanx of the 2nd toe


Hypoplastic toenails

Underdevelopment of the toenail.


Fetal intraventricular hemorrhage

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


Posterior fossa cyst

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


Bronchiolectasis

Saccular dilatation of the terminal bronchioles.


Renal arteriole intima/media coagulative necrosis

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


ganglioneuroblastoma

A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular.


Sacroiliac joint synovitis

Inflammation of the synovial membrane of the sacroiliac joint.


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

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.


Aplasia/Hypoplasia of the phalanges of the hallux


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

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


Bilateral cleft palate

Nonmidline cleft palate on the left and right sides.


Increased cotinine level

Increased concentration of cotinine in urine.


Perioral hyperkeratosis

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


Neoplasm by anatomical site

Neoplasm categorized according to the anatomical site of origin of the neoplasm.


Abnormal circulating unsaturated fatty acid concentration

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


Unilateral vertebral artery hypoplasia

Underdevelopment of the vertebral artery on one side.


Breast hypoplasia

Underdevelopment of the breast.


Frontotemporal hypertrichosis

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


Multiple unerupted teeth

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


Short sternum

Decreased inferosuperior length of the sternum.


Abnormal movements of face and head

Abnormal movements of face and head.


Abnormal jugular venous pressure

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

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.


Hereditary nonpolyposis colorectal carcinoma


olivopontocerebellar atrophy

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


Extrapyramidal muscular rigidity

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


Leukocyte migration defect

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.


Impaired cortisol response to corticotropin releasing hormone stimulation test

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


Abnormal skeletal morphology

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


Sclerosis of proximal finger phalanx

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.


Duplication of the proximal phalanx of the 4th finger

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


Hypocystinemia

A decreased amount of cystine in the blood.


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

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


Decreased circulating free T4 concentration

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


Unusual fungal infection

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


Positive direct antiglobulin test

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.


Synostosis involving bones of the lower limbs

An abnormal union between bones or parts of bones lower limbs.


Complete duplication of the phalanges of the 4th finger

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

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


Recurrent bronchopulmonary infections

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


GM1 gangliosidosis

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

Anterior malposition of the anus.


Progressive alopecia

Progressive loss of hair.


Neoplasm of the genitourinary tract

A tumor (abnormal growth of tissue) of the genitourinary system.


Ridged nail

Longitudinal, linear prominences in the nail plate.


Abnormal lateral semicircular canal morphology


Juxtaductal coarctation of the aorta

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

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


latex allergy

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.


Mediosternal, longitudinal streak of hypopigmentation


Absent natural killer cells

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

Pit in the midline of the philtral groove.


bicornuate uterus

The presence of a bicornuate uterus.


Computed tomographic halo sign

CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm.


Renal artery duplication

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.


Mildly reduced left ventricular ejection fraction

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.


Small epiphysis of the distal phalanx of the 4th toe


Focal head nodding automatism seizure

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


Loud first heart sound

Abnormally increased volume of the first heart sound.


Hemifacial spasm

Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.


Abnormal renal corticomedullary differentiation

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

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

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


Thick lower lip vermilion

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).


Olivary degeneration

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


Increased anti-house dust mite IgE antibody level

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


Abnormality of the male genitalia

Abnormality of the male genital system.


Thoracic ectopia cordis

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

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


Diffuse pulmonary lymphoid hyperplasia

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

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


Bowing of the legs

A bending or abnormal curvature affecting a long bone of the leg.


Abnormal amyloid beta peptide CSF concentration

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


Flexion contracture of 3rd toe

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


Recurrent opportunistic infections

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.


Decreased nasal nitric oxide

Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.


Intratubular vancomycin casts

Intratubular casts composed of vancomycin aggregates and uromodulin.


Reduced contraction of the left ventricular apex

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


Acromelia

Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.


Decreased specific antibody response to polysaccharide vaccine

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


Ocular dyssynergia

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


Abnormal circulating long-chain fatty-acid concentration

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


Increased caudate lactate level

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


Thromboembolic stroke

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


1-5 toe syndactyly

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


Recurrent gastroenteritis

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.


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

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

An abnormal decrease in ornithine in the blood.


juvenile nasopharyngeal angiofibroma

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.


Anti-glomerular basement membrane-antibody positivity

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


Bracket epiphyses of the distal phalanges of the hand

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


Abnormal oral morphology

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


Question mark ear

Cleft between the helix and the lobe.


Narrow foot

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


Abnormality of the epiphysis of the middle phalanx of the 3rd finger


Premature adrenarche

Onset of adrenarche at an earlier age than usual.


partial atrioventricular canal

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.


Profound sensorineural hearing impairment

Complete loss of hearing related to a sensorineural defect.


Elevated pulmonary artery pressure

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


Left aortic arch with cervical origin of the right subclavian artery


Absent humerus

Missing humerus bone associated with congenital failure of development.


Abnormal cerebral subcortex morphology

An abnormality of the cerebral subcortex.


Necrotizing encephalopathy

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

Vesicoureteral reflux into the ureter only.


Myocardial necrosis

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


Unilateral lump kidney

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

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


Pseudo-chilblains on toes

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


Tibialis muscle weakness

Muscle weakness affecting the tibialis anterior muscle.


Anti-type VII collagen antibody

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


Abnormal LDL cholesterol concentration

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


Pulmonary situs ambiguus

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.


Abnormal delayed hypersensitivity skin test

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

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


Increased urinary taurine

Increased concentration of taurine in the urine.


Patchy sclerosis of 3rd finger phalanx

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


Absent fourth finger distal interphalangeal crease

Absence of the distal interphalangeal flexion creases of the fourth finger.


Serpiginous stem of antihelix

Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha.


Atrial situs ambiguous

Common atrium without defining morphologic features.


Submucous cleft of soft and hard palate

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

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.


Absent frontal sinuses

Aplasia of frontal sinus.


Progressive sensorineural hearing impairment

A progressive form of sensorineural hearing impairment.


Decreased number of small peripheral myelinated nerve fibers


Sertoli cell tumor

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

Osteoporosis affecting predominantly the vertebrae.


Chronic (near) absent circulating IgG2

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


Lack of nonverbal response to verbal cues

A consistent failure to nonverbally respond to verbal cues such as a failure to shift attention or look at the source of the cue.


Weakness of long finger extensor muscles


Neurofibrillary tangles

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


Abnormal circulating membrane cofactor protein concentration

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

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

Congenital underdevelopment of lymph vessels.


Incomplete cleft soft palate

Cleft soft palate in which the cleft doe not goes through the entire length of the soft palate.


Severe receptive language delay

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


Abnormal tubular basement membrane morphology

Abnormal structure of the basement membrane of the renal tubulus.


Abnormal myeloid leukocyte morphology

An abnormality of myeloid leukocytes.


Uterine cyst

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


Abnormal circulating glycine concentration

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


Anti-class I HLA antibody positivity

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).


Asymmetric radial dysplasia

The presence of asymmetric developmental dysplasia of the radius.


Focal emotional seizure with agitation

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

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.


Increased circulating metamyelocyte count

An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1.


Anti-BP180 antibody positivity

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


Patchy sclerosis of middle toe phalanx

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

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


Erectile dysfunction

A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.


Blebbing of apical cytoplasm of renal tubular epithelial cells

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.


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


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

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

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


Abnormality of the epiphysis of the middle phalanx of the 4th finger


Hydromyelia

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


Lower extremity hypokinesia

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

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.


Pseudoepiphysis of the proximal phalanx of the 3rd finger

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


Intention tremor

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).


High-frequency hearing impairment

A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).


Pituitary growth hormone cell adenoma

A type of pituitary adenoma that produces growth hormone.


Elevated circulating 4-hydroxyphenylacetic acid concentration

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


Maxillary lateral incisor microdontia

Decreased size of the maxillary permanent incisor.


Green teeth

A green staining of teeth.


Decreased circulating dehydroepiandrosterone-sulfate concentration

A reduced concentration of dehydroepiandrosterone-sulfate in the blood.


Decreased CSF glutamine concentration

Abnormally decreased levels of glutamine in cerebrospinal fluid.


Polyminimyoclonus

Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant.


Autoamputation of digits

The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.


Congenital posterior occipital alopecia

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


Permanent junctional reciprocating tachycardia

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

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

Underdevelopment (hypoplasia) of the third toe.