Seizure precipitated by febrile infection

Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.


Scapular muscle atrophy

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.


Neck flexor weakness

Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).


Abnormal mean corpuscular volume

A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.


Stiff shoulders

Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity.


Abnormal phalangeal joint morphology of the hand


Abnormal proportion of central memory CD8-positive, alpha-beta T cells

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


McConnell sign

Severe hypokinesia of the mid-free wall of the right ventricle of the heart with a normal contraction of the apical segment of the right ventricle.


Malaligned philtral ridges

Absence of the usual parallel position of philtral ridges.


Sonographic non-visualized fetal bladder

Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation.


Ketotic hypoglycemia

Low blood glucose is accompanied by elevated levels of ketone bodies in the body.


Abnormal glucagon level

A deviation from the normal concentration of glucagon in the blood circulation.


Shuffling gait

A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.


Neck pterygia

Pterygia affecting the neck.


Complete duplication of the distal phalanx of the 2nd finger

Complete duplication of the distal phalanx of index finger.


Focal aware pedal automatism seizure

A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. 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.


Hypereosinophilia

A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter.


Hypoplastic fifth fingernail

A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.


univentricular heart

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.


Focal impaired awareness hemiclonic seizure

A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.


Asparaginuria

An increased concentration of asparagine in the urine.


Lower limb undergrowth

Leg shortening because of underdevelopment of one or more bones of the lower extremity.


Impaired visually enhanced vestibulo-ocular reflex

The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR).


isolated sulfite oxidase deficiency

Abnormally reduced sulfite oxidase level.


Absent bronchoalveolar surfactant-protein C

Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region.


Pseudoepiphysis of the distal phalanx of the 5th toe


Bifid uterus

The presence of a bifid uterus.


Progressive bowing of long bones

Progressive bending or abnormal curvature of a long bone.


Long fibula

Disproportionately long fibulae.


Abnormal QRS voltage

Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).


Elevated circulating oleylcarnitine concentration

Increased concentration of oleylcarnitine in the blood circulation.


Anti-Ro/SS-A antibody positivity

The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens.


Non-rapid eye movement parasomnia

A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep).


Irregular septal thickening on pulmonary HRCT

Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture.


Fractured epiphysis

A partial or complete breakage of the epiphysis.


Abnormality of palatoglossus muscle

An abnormality of a palatoglossus muscle.


Contracture of the metatarsophalangeal joint of the 4th toe

The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively.


hypersplenism

Overactive functioning of the spleen, resulting in excessive destruction of blood cells.


Abnormal 3rd finger morphology

An anomaly of the third finger.


The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210.


Sclerosis of 3rd toe phalanx

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


Cone-shaped epiphyses of the distal phalanges of the hand


Abnormality of joint mobility

An abnormality in the range and ease of motion of joints across their normal range.


Transient decreased circulating IgG2

A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation.


Cardiac rhabdoid tumor

A rare and aggressive neoplasms developing mainly in the kidney but also in cerebral and extra-cerebral tissues and rarely in the heart. Histologically, rhabdoid renal and extrarenal tumors share common characteristics. The cells are polygonal, with eccentric, vesicular nuclei and prominent nucleoli, eosinophilic cytoplasmic inclusions. The tumors have an infiltrative growth pattern, necrosis, and high proliferative index. The immunohistochemistry tools of investigation facilitate differential diagnosis by showing loss of INI-1 expression, usually accompanied by germline mutations of the SMARCB1 gene. When INI-1 is still expressed in the affected tissues, a rhabdoid tumor with SMARCA4 mutations should be considered.


Complete duplication of the distal phalanx of the 3rd finger

Complete duplication of the distal phalanx of middle finger


Decreased glucose-6-phosphate dehydrogenase level in red blood cells

A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells.


Intracranial internal carotid artery dissection

A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall.


Aplasia/Hypoplasia of the distal phalanx of the 5th toe


Unilambdoid synostosis

Premature synostosis of only one lambdoid suture.


Typical absence seizure

A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.


Negativism

Opposing or not responding to instructions or external stimuli.


Synostosis of thumb phalanx

Fusion of a phalanx of the thumb with another bone.


Enlarged epiphysis of the 1st metacarpal

Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms.


Tessier number 8 facial cleft

The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae.


Sclerotic humeral metaphysis with longitudinal striations


Tics

Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement.


Delayed eruption of permanent teeth

Delayed tooth eruption affecting the secondary dentition.


Bullet-shaped middle toe phalanx

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


Abnormal finger morphology

An anomaly of a finger.


Anti-Sj/ITPR1 antibody

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


Abnormal foot bone ossification

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


Decreased circulating IgG level

An abnormally decreased level of immunoglobulin G (IgG) in blood.


Hyposerinemia

Reduced concentration of serine in the blood.


Thickened Achilles tendon

An abnormal thickening of the Achilles tendon.


Increased fetal lens echogenicity

Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus.


Fracture blister

Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn.


Hyperintensity of MRI T2 signal of the spinal cord

A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.


Aplasia of the proximal phalanx of the 5th toe


Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe


Small hypothenar eminence

Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.


Cutis marmorata

A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.


Abnormality of the middle phalanx of the 4th finger


Alaninuria

An increased level of alanine in the urine.


Cortical peritubular capillaritis

Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.


Amyotrophy of ankle musculature

Atrophy of the muscles of the ankle.


Occipital cortical atrophy

Atrophy of the occipital cortex.


Mild proteinuria

Mildly increased levels of protein in the urine (150-500 mg per day in adults).


Glomerular pseudocrescent

Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact.


Abnormal number of permanent teeth

The presence of an altered number of of permanent teeth.


Renal tubular epithelial cell hyaline droplets

Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell.


Subcutaneous lipoma

The presence of subcutaneous lipoma.


Prominent veins on trunk

Prominent thoracic and abdominal veins.


Osteolytic defects of the distal phalanx of the 4th finger

Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger.


Fragmentation of the epiphyses of the hallux


EEG with generalized slow activity

Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Class II obesity

Obesity with a body mass index of 35 to 39.9 kg per square meter.


Large earlobe

Increased volume of the earlobe, that is, abnormally prominent ear lobules.


Renal cortical hyperechogenicity

Increased echogenecity of the kidney cortex.


Bilateral trilobed lung

Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.


Neuronal loss in basal ganglia

A reduction in the number of nerve cells in the basal ganglia.


Pulmonary air embolism

Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation.


Absence of lymph node germinal center

Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.


Aplasia of the right hemidiaphragm

Congenital absence of the right-sided diaphragm.


Hypoplastic distal radial epiphyses

Underdevelopment of the distal epiphysis of the radius.


Aplasia of the distal phalanx of the 5th toe


1-3 toe syndactyly

Syndactyly with fusion of toes one to three.


Neonatal hypoproteinemia

A neonatal decreased concentration of proteins in the blood.


Bridged palmar crease

A crease that connects the proximal and distal transverse palmar creases.


Abnormal knee morphology

A structural abnormality of the knee joint or surrounding structures.


Increased proportion of naive CD8 T cells

An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells.


Increased HDL3b concentration

An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.


Increased circulating progesterone

An elevated concentration of progesterone in the blood.


Steroid-sensitive nephrotic syndrome with infrequent relapses

A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period.


skin vascular disease

A disease that involves the superficial vasculature.


Abnormality of the incus

An abnormality of the incus, an ossicle in the middle ear.


Aplasia/hypoplasia of the extremities

Absence (due to failure to form) or underdevelopment of the extremities.


Bilateral wrist flexion contracture

A chronic loss of wrist joint motion on the right and left sides.


celiac artery stenosis from compression by median arcuate ligament of diaphragm

A vascular compression syndrome attributed to celiac trunk compression by the median arcuate ligament of the diaphragm, with presentations ranging from completely asymptomatic to myriad gastrointestinal symptoms, including chronic abdominal pain (CAP), post-prandial pain, nausea and vomiting, anorexia, early satiety, and subsequently weight loss.


Triangular epiphyses of the distal phalanges of the hand


Glenoid fossa hypoplasia

Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.


Cone-shaped epiphysis of the distal phalanx of the 2nd finger

A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.


Focal aware autonomic seizure with erection

A focal autonomic seizure with erection characterized by retained awareness throughout the seizure.


Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine

A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.


synovial sarcoma

Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).


Focal manual automatism seizure

A type of focal automatism seizure characterized by manual automatisms at onset.


Nasal flaring

Widening of the nostrils upon inhalation as a manifestation of respiratory distress.


infantile digital fibromatosis

A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions.


Vascular malformation of the lip

An anomaly of blood vessels located in the lip.


Multiple rib fractures

More than one fracture of the ribs.


Aplasia/Hypoplasia of the distal phalanges of the toes

Absence or underdevelopment of the distal phalanges of the toes.


Osteomyelitis leading to amputation due to slow healing fractures


Abnormal arterial physiology

An anomaly of arterial function.


Trifascicular block

Abnormal conduction in all three divisions of the intraventricular conducting tissue.


Glomerular parietal epithelial cell hypertrophy

An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present


Abnormal CSF lactate concentration

Abnormal concentration of lactate in the cerebrospinal fluid.


Loud snoring

Particularly loud snoring, snoring at high volume.


Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains.


Congenital hydrocele

Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through.


Fetal megacystis

Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.


Equinus calcaneus

Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.


Pseudoepiphysis of the middle phalanx of the 4th toe

A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fourth toe.


Aplasia/hypoplasia of the proximal phalanx of the 4th toe

Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe.


Anti-GM4 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4.


Abnormal dermoepidermal junction morphology

Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments.


Abnormal layering of muscularis propria

Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer.


Complex febrile seizure

A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.


Hypodipsia

Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.


Abnormal circulating calcium concentration

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


Decreased numbers of nephrons

A reduction in the count of nephrons per kidney.


Bracket epiphysis of the proximal phalanx of the hallux

The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.


Abnormality of the calcaneus

An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.


Centrilobular emphysema

A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones.


Crus of helix connected to antihelix

Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix.


Downturned corners of mouth

A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.


Arcuate vein lumen organized thrombi

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


Copper accumulation in liver

An anomalous build up of copper (Cu) in the liver.


Overfolded helix

A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.


Ivory epiphysis of the proximal phalanx of the hallux


Abnormal thorax morphology

Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).


Joint subluxation

A partial dislocation of a joint.


Pseudoepiphysis of the 4th metacarpal

The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.


Complete duplication of phalanx of hand

A complete duplication affecting one or more of the 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, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


Abnormal cardiac ventricle morphology

An abnormality of a cardiac ventricle.


laurin-Sandrow syndrome

Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.


Nevus roseus

A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life.


Pulmonary pneumatocele

A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung.


Displacement of the papillary muscles

Abnormal location of the insertion of a papillary muscle into the left ventricular wall.


Total anosmia

Inability to detect any qualitative olfactory sensation.


Abnormality nasal septum cartilage morphology

An abnormality of a cartilage of nasal septum.


Legg-Calve-Perthes disease

A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible.


Submucous cleft lip

A cleft of the lip with overlying mucous membrane.


EEG with focal epileptiform discharges

EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Abnormal glomerular basement membrane morphology

Any abnormal sttructure of the glomerular basement membrane.


Rubral tremor

Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.


Fusiform abdominal aortic aneurysm

A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall


Tip-toe gait

An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.


Abnormality of the upper respiratory tract

An abnormality of the upper respiratory tract.


Irregular myelin loops

Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.


adenoiditis

An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil.


Small epiphysis of the proximal phalanx of the 3rd finger

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


Lower limb muscle weakness

Weakness of the muscles of the legs.


Asplenia

Absence (aplasia) of the spleen.


chondrosarcoma

A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.


Abnormal circulating fetuin A concentration

Any deviation from the normal concentration of fetuin A in the blood circulation.


Decreased circulating apolipoprotein A-II concentration

Concentration of apolipoprotein A-II below the lower limit of normal.


Cone-shaped epiphysis of the distal phalanx of the 2nd toe


Abnormal peripheral myelination

An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.


Increased proportion of CD4-positive, alpha-beta memory T cells

An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


Congenitally corrected transposition of the great arteries with ventricular septal defect

A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum.


spinal cord neoplasm

A neoplasm (disease) that involves the spinal cord.


Absent epiphyses of the 2nd finger

Absence of the epiphyses of the 2nd finger.


Thick corpus callosum

Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.


Osseous syndactyly of toes

Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".


Complete duplication of the distal phalanx of the 5th toe

Complete duplication of the distal phalanx of little toe.


Orthodromic atrioventricular reentrant tachycardia

A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction.


Renal interstitial deposits

Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney.


Abnormal head blood vessel morphology

An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head.


Increased anti-animal dander IgE antibody level

Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats.


Abnormal morphology of ulna

Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger.


Mandibular hyperostosis

Hyperostosis (bony overgrowth) of the mandible.


Serpiginous cutaneous lesion

A skin lesion with a snake- or serpent-like distribution.


Vaginal hydrocele

A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable.


neoplasm of jaw

A neoplasm (disease) that involves the jaw skeleton.


Hip flexor weakness

Reduced ability to flex the femur, that is, to pull the knee upward.


Abnormal common carotid artery morphology

An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery.


Esophageal myenteric plexus degeneration

Deterioration of the cells of the myenteric plexus (also known as the Auerbach plexus) located between the layers of the muscular propria of the esophagus.


Glomerular basement membrane disruption

A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver.


Epileptic encephalopathy

A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.


hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.


Leukocytoclastic vasculitis

A type of vasculitis characterized by the presence of debris of neutrophils within the blood vessel walls.


Recurrent vulvovaginal candidiasis

Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.


Arcuate vein medial/intimal necrosis

Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney.


Dentin dysplasia

This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications.


Gray matter heterotopia

Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.


Pseudoepiphysis of the distal phalanx of the 4th finger

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


Episodic hemolytic anemia

A form of hemolytic anemia that occurs in repeated episodes.


Clinical course

The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.


Lymph node hypoplasia

Underdevelopment of the lymph nodes.


Hallux rigidus

Osteoarthritis of the metatarsophalangeal joint of the first toe.


Pretibial hyperpigmentation

Darkening of the area of skin that overlies the shin.


Generalized clonic seizure

Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.


Abnormality of fibula morphology

An anomaly of the calf bone (fibula), one of the two bones of the calf.


Bullet-shaped middle phalanx of the 5th toe

An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Enlarged epiphyses of the 5th finger

Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms.


Increased hepatic glycogen content

An increase in the amount of glycogen stored in hepatocytes compared to normal.


Metacarpophalangeal synostosis

Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.


Aplasia involving bones of the upper limbs


Triangular epiphysis of the proximal phalanx of the 3rd finger

A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Decreased CSF amyloid concentration

Reduced concentration of amyloid in the cerebrospinal fluid (CSF).


ganglioglioma

A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)


Prominent nucleoli of renal tubular epithelial cells

Tubular epithelium with nucleoli clearly visible at 100-fold magnification.


Abnormality of the abdominal wall

The presence of any abnormality affecting the abdominal wall.


Low anterior hairline

Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.


Pancreatic islet cell adenoma

The presence of an adenoma of the pancreas with origin in a pancreatic B cell.


Abnormal aortic arch morphology

An anomaly of the arch of aorta.


Abnormality of the epiphyses of the proximal phalanges of the hand


Platypnea

A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position.


Ectopic accesory toe-like appendage

In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).


Bullet-shaped distal phalanx of the 5th finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected.


Exogenous lipoid pneumonia

A type of lipoid pneumonia in which the source of the lipids is external to the body.


Absent first metatarsal

A developmental defect characterized by the absence of the first metatarsal bone.


basal ganglia disorder

A disease involving the basal ganglia.


Complete or near-complete absence of specific antibody response to meningococcus vaccine

The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.


Congenital abnormal hair pattern

A congenital abnormality of the distribution of hair growth.


Bilateral ulnar hypoplasia

Underdevelopment of the ulna on both sides.


Fetal neck anomaly

A structural anomaly in the fetal neck region. 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.


Limited pronation/supination of forearm

A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).


Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.


Munchausen by proxy

A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.


Poroma

A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273].


Decreased level of carnosine in blood

A decreased amount of carnosine in bood.


Decerebrate rigidity

A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.


Renal tubular epithelial cell simplification

Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts.


Abnormality of the epiphyses of the 3rd finger

Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger.


Upper extremity akinesia

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


Hypoplastic thumbnail

A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.


Aborted sudden cardiac death

Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.


Abnormal renal collecting system morphology

An abnormality of the renal collecting system.


Non-acidotic proximal tubulopathy

A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.


Abnormal pulmonary fissure architecture

An abnormal form or location of a pulmonary fissure.


Excessive dental attrition

A higher than expected amount of attrition of teeth, as menifested by loss of tooth characteristics including rounding or sharpening of incisal edges, loss of cusps, and fracturing of teeth, to an extent that is deemed more than would be expected at a given age.


nasopharyngeal neoplasm

A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma.


Contracture of the metatarsophalangeal joint of the 5th toe

The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively.


Perioral hyperpigmentation

Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.


Fractured maxilla

A partial or complete breakage of the maxilla.


gamma-heavy chain disease

Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.


Granulomatosis

A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.


Triceps hyperreflexia

Increased intensity of the triceps reflex.


Brachioradialis hyporeflexia

Reduced intensity of the brachioradialis tendon reflex.


Bracket epiphysis of the proximal phalanx of the 3rd finger

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


High insertion of columella

Insertion of the posterior columella superior to the nasal base.


Trichodysplasia

Developmental dysplasia of the hair.


Abnormal circulating glutamate concentration

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


Type 3 congenital pulmonary airway malformation

A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance.


Abnormal nasopharynx morphology

A structural anomaly of the nasopharynx.


Impaired tactile sensation

A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.


Increased myocardial glycogen content

Elevated amount of glycogen in the myocardium.


Quadricuspid aortic valve

The presence of an aortic valve with four instead of the normal three cusps (flaps).


Multidrug-resistant nephrotic syndrome

A form of nephrotic syndrome that does not respond to any immunosuppresive treatment.


Recurrent acute respiratory tract infection

A history of repeated acute infections of the upper or lower respiratory tract.


Focal aware emotional seizure with anger

Focal emotional seizure with anger in which awareness is retained throughout.


Brown pigment gallstones

A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.


Small epiphyses of the phalanges of the hand

Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.


Temporal hypotrichosis

Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).


Bullet-shaped proximal toe phalanx

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


Abnormality of the epiphyses of the 4th toe


Alveolar capillary dysplasia

A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis.


Recurrent thromboembolism

Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.


platelet aggregation, spontaneous

Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.


Pseudoepiphysis of the proximal phalanx of the 4th finger

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


Abnormality of secondary sexual hair

Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.


Interlobular septal thickening

Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.


Impaired cortisol response to glucagon stimulation test

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


Severe infection

A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.


Reduced epidermal extracellular matrix protein 1 protein expression

Lower than normal amount of extracellular matrix protein 1 (ECM1) in the epidermis.


Focal impaired awareness motor seizure

A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure.


Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes


Hypoplastic sweat glands

Underdevelopment of the sweat glands.


Lower limb dysmetria

A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg.


Aplasia of the proximal phalanx of the 4th finger

Absence of the proximal phalanx of the ring (4th) finger.


Agenesis of maxillary central incisor

Agenesis of upper secondary incisor or of upper central primary incisor.


Amegakaryocytic thrombocytopenia

Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.


Pulmonary situs inversus

Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus.


Abnormal lingual nerve morphology

Any structural anomaly of a lingual nerve.


Deep cerebral white matter hyperintensities

Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.


Glomerular deposits

An abnormal accumulation of protein in the glomerulus.


Reduced natural killer cell activity

Reduced ability of the natural killer cell to function in the adaptive immune response.


Bloody mucoid diarrhea

Passage of many stools containing blood and mucus.


Ureteral duplication

A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.


Dilatation of the tricuspid annulus

An increase in the diameter of the ring (annulus) of the tricuspid valve.


Aplasia of metacarpal bones

Developmental defect associated with absence of one or more metacarpal bones.


Localized skin lesion

A lesion of the skin that is located in a specific region rather than being generalized.


Unroofed coronary sinus

Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion.


Apical muscular ventricular septal defect

A muscular ventricular septal defect located at the apex of the heart.


Spherocytosis

The presence of erythrocytes that are sphere-shaped.


Type 1 schizencephaly

A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging.


Reduced circulating prekallikrein concentration

Reduced concentration of prekallikrein (PK; also known as Fletcher factor) in the blood circulation. PK is the precursor of plasma kallikrein, a serine protease that activates kinins. PK is cleaved to produce kallikrein by activated Factor XII.


Brachioradialis areflexia

Inability to elicit brachioradialis tendon reflex.


Fractured clavicle bone

A partial or complete breakage of the clavicle bone.


Gowers sign

A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.


Abnormal retinol-binding protein level

A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol.


Abnormal large intestine morphology

Any abnormality of the large intestine.


communicating hydrocephalus

An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations.


Anti-Zinc transporter 8 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8.


Abnormal cochlea morphology

An abnormality of the cochlea.


Glycogen accumulation in pulmonary interstitial cells

Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells.


Pseudoepiphysis of the 1st metacarpal

The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.


Sacral meningocele

A congenital abnormality in the sacral region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.


Glomerular basement membrane amyloid spicule

Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains.


Triangular epiphyses of the metacarpals

A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals.


Pulmonary cylindroma

A cylindroma located in the lung. Cylindromas are well-circumscribed, smooth, pale pink nodular tumors, often with arborizing vessels visible. The tumors are slow growing and vary in size from a few millimeters to over 5 mm.


Fusiform cerebral aneurysm

A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.


congenital pulmonary sequestration

A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation.


Abnormal size of pituitary gland

A deviation from the normal size of the pituitary gland.


vagus nerve paraganglioma

A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.


Insulin-resistant diabetes mellitus

A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.


Anal intraepithelial neoplasia

Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.


Paroxysmal lethargy

Repeated episodes of sudden-onset and transient lethargy.


Erlenmeyer flask deformity of the femurs

Flaring of distal femur.


Extralobar sequestration

A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura.


Increased alpha-globulin

An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant.


Anti-Ma1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1.


Plantar edema

An abnormal accumulation of fluid beneath the skin on sole of the foot.


Closed neural tube defect

A type of neural tube defect that is covered by skin.


megaloblastic anemia, folate-responsive

A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate.


Foot polydactyly

A kind of polydactyly characterized by the presence of a supernumerary toe or toes.


Cone-shaped epiphysis of the distal phalanx of the 3rd toe


Obstructive azoospermia

Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.


histidinuria due to a renal tubular defect

An increased concentration of histidine in the urine.


Inferior crossed fused renal ectopia

A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position).


Abnormal lateral ventricle morphology

A morphological anomaly of the lateral ventricle.


Atrophy/Degeneration affecting the cerebrum

The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.


Microtia, first degree

Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.


testicular microlithiasis

The deposition of calcium phosphate microliths within the seminiferous tubules.


Abnormal cortical radial artery morphology

Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney.


Focal aware motor seizure with dysarthria/anarthria

A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure.


Cerebral artery atherosclerosis

The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain.


Abnormal aggressive, impulsive or violent behavior


Anomaly of the upper limb diaphyses

A structural abnormality of a diaphysis of the arm.


Pulmonary arterial plexiform lesion

Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels.


Febrile status epilepticus

A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.


Non-periodic recurrent fever

Episodic fever that recurs at irregular intervals.


Aplasia of the left hemidiaphragm

Congenital absence of the left half of the diaphragm.


C3 nephritic factor positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).


Abnormal neuron morphology

A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.


Satyr ear

Sharp pointed superior portion of the ear, with variable overfolding of the helix.


Abnormal reproductive system morphology

A structural or developmental anomaly of any of the tissues involved in the genital system.


2-4 finger syndactyly

Syndactyly with fusion of the fingers two to four.


Elevated right ventricular systolic pressure

Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg.


Small hand

Disproportionately small hand.


Epileptic aura

An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure.


Paroxysmal dyspnea

A sudden attack of dyspnea that occurs while the affected person is at rest.


Postaxial foot polydactyly

Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.


Abnormal CSF carboxylic acid concentration

Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid.


hyperalphalipoproteinemia

An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.


Focal impaired awareness manual automatism seizure

A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset.


Narrow greater sciatic notch

A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.


Osteolytic defects of the proximal phalanges of the hand


Fractures, Open

A traumatic break to the bone in which the continuity of the bone has broken through the skin.


Focal aware non-motor seizure

A focal non-motor seizure in which awareness is retained throughout the seizure.


Fractured phalanx of pes

A partial or complete breakage of the phalanx of pes.


malignant ear neoplasm

A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear.


Increased urine glutamate level

An increased concentration of glutamate in the urine.


Nodular-perilymphatic pattern on pulmonary HRCT

A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution.


precocious puberty in female

A precocious puberty that involves the female organism.


Abnormal urinary acylglycine profile

An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution.


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

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


Scanning speech

An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.


Prominent stem of antihelix

Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix.


Ventricular septal aneurysm

A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion.


Impaired neutrophil bactericidal activity

A reduction in the ability of neutrophils to kill bacteria.


Intermittent hypothermia

Episodes of reduced body termperature.


Elevated circulating follicle stimulating hormone level

An elevated concentration of follicle-stimulating hormone in the blood.


Reduced serum alpha-1-antitrypsin

A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.


Absent proximal phalanx of thumb

Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Delayed ossification of carpal bones

Ossification of carpal bones occurs later than age-adjusted norms.


Anti-GD1b IgG antibody positivity

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


Anti-platelet antigen antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against antigens present on the surface of thrombocytes such as the glycoproteins GPIIb/IIIa, GPIb/IX, and GPIa/IIa.


Subependymal nodules

Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis.


Partially duplicated kidney

The presence of a partially duplicated kidney.


Abnormality of the skeletal system

An abnormality of the skeletal system.


Shoulder contracture

Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the shoulder joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.


distal arthrogryposis

A muscle tissue disease characterized by congenital joint contractures of hand and feet.


Abnormal thalamic MRI signal intensity

A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.


Oral aversion

Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).


Stiff finger

A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity.


renal hypoplasia, bilateral

Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present.


Increased circulating NT-proBNP concentration

An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP).


Positive regitine blocking test

A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.


Increased CSF tyrosine concentration

Abnormally increased levels of tyrosine in cerebrospinal fluid.


Elevated circulating glutarylcarnitine concentration

Increased concentration of glutarylcarnitine in the blood circulation.


Ivory epiphyses of the 5th toe

Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Right coronary artery ostial atresia

Absence of the normal opening of the coronary ostium from which the right main coronary artery originates.


Increased proportion of class-switched memory B cells

An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.


Partial absence of cerebellar vermis

Congenital absence of a part of the vermis of cerebellum.


Small epiphyses of the middle phalanges of the hand


Muscle spasm

Sudden and involuntary contractions of one or more muscles.


Decreased low-density lipoprotein particle size

An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation.


Duplication of the proximal phalanx of the 2nd finger

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


Partial duplication of the proximal phalanx of the hallux

Partial duplication of the proximal phalanx of big toe.


Prominent antihelix

The presence of an abnormally prominent antihelix.


Abnormal platelet volume

Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.


Irregular respiration

Uneven rhythm of breathing.


Elevated circulating 5-oxoproline concentration

Concentration of L-pyroglutamic acid in the blood is above the upper limit of normal.


Reflex seizure

Seizures precipitated by exogenous stimuli.


Increased serum estriol

An elevation above normal limits of estriol concentration in the circulation.


Delayed femoral head ossification

Delayed ossification of the femoral head.


Long proximal phalanx of finger

Increased length of the proximal phalanx of finger.


Tongue thrusting

Pressing forward of the tongue in the mouth, a retained motoric habit from infantile swallowing patterns


Aminoglycoside-induced hearing loss

Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.


Affective epileptic aura

Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.


Increased CSF histidine concentration

Abnormally increased levels of histidine in cerebrospinal fluid.


Reduced red cell adenosine deaminase level

Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.


Misalignment of the pulmonary veins

The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins.


Pruritis on abdomen

Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen.


Dysplastic megalencephaly

A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly.


Broad toe

Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.


Glomerular capillary collapse

Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs).


Absence of memory B cells

Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin.


Single transverse palmar crease

The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.


Thoracocervical ectopia cordis

A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.


Perioral radial furrowing

The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976).


Large vessel vasculitis

A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.


Failure of eruption of permanent teeth

Lack of tooth eruption of the secondary dentition.


Popliteal pterygium

A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).


Sacral lipoma

Presence of a lipoma in the region of the sacrum.


Elevated CSF 4-hydroxybutyric acid concentration

Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF).


Short hallux

Underdevelopment (hypoplasia) of the big toe.


double outlet left ventricle

Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle.


Curved proximal phalanx of the 3rd finger

Curved appearance of the proximal phalanx of the 3rd finger.


Orthostatic hypotension due to autonomic dysfunction


Recurrent bacterial infections

Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.


Abnormal residual volume

Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs).


Epiphyseal stippling of the metacarpals

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


Venous malformation

A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.


Abnormal penis morphology

Abnormality of the male external sex organ.


Hyperfibrinolysis

Increased degradation of fibrin, associated with clot instability and bleeding


Delayed elbow epiphyseal ossification

A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow.


Palmoplantar hyperkeratosis

Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.


Increased CSF valine concentration

Any increased amount from normal of valine in the cerebrospinal fluid.


Elevated fetal middle cerebral artery peak systolic velocity

Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound.


Conus terminalis arteriovenous malformation


Abnormal femoral torsion

Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range.


porokeratosis

A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella.


Acidemia

An abnormally low blood pH (usually defined as less than 7.35).


Dystonic gait

Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients.


Cortical radial artery medial atrophy

Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


Abnormal hepatic glycogen storage

Change in normal glycogen storage content.


Elevated circulating D-dimer concentration

An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.


Abnormal circulating erythropoietin concentration

Any deviation from the normal concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.


fissured tongue

Accentuation of the grooves on the dorsal surface of the tongue.


Macrocephaly at birth

The presence of an abnormally large skull with onset at birth.


Generalized limb muscle atrophy

Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.


Onion bulb formation

Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.


Broad uvula

Increased width of the uvula (subjective finding).


Symphalangism affecting the proximal phalanx of the hallux


Reduced plasminogen activator inhibitor 1 activity

Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator.


Short phalanx of the thumb

Hypoplastic (short) thumb phalanx.


Double-layered patella

An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood.


Abnormality of upper lip vermillion

An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.


Nonocclusive coronary artery atherosclerosis

Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.


Preaxial polydactyly

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


Abnormal descending aorta morphology

A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen.


Gingival hyperkeratosis

Hyperkeratosis of the gingiva.


Hypoplastic fifth toenail

Underdeveloped nails of the fifth toes.


Absent palmar crease

The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).


Abnormal forebrain morphology

An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.


Dilatation of renal calices

An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.


Hyperintensity of cerebral white matter on MRI

A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.


cervix erosion

Loss or destruction of the epithelial lining of the uterine cervix.


Unhappy demeanor

A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events.


Broad hallux

Visible increase in width of the hallux without an increase in the dorso-ventral dimension.


Duplication of the distal phalanx of the 2nd finger

Partial or complete duplication of the distal phalanx of index finger.


Abnormal second toe morphology

An anomaly of the second toe.


Curved middle phalanx of the 5th toe

A deviation from the normal straight form of the middle phalanx of the fifth toe.


Pancreatic aplasia

Aplasia of the pancreas.


Swiss cheese atrial septal defect

Multiple defects in the atrial septum.


larynx atresia

A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation.


Increased theta frequency activity in EEG

Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.


Abnormal HDL2b concentration

Any deviation from the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.


Recurrent bacterial upper respiratory tract infections

An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).


Decreased post-bronchodilator forced expiratory flow 25-75%

A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication.


Boerhaave syndrome

A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part.


Patchy sclerosis of the proximal phalanx of the 4th toe

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


Abnormal communication

Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level.


Curved middle phalanx of the 2nd toe

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


Complete duplication of the proximal phalanx of the 3rd toe

Complete duplication of proximal phalanx of third toe.


Irregular ossification of humeral metaphyses


Increased hepatic echogenicity

Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.


Anomalous origin of left subclavian artery

Origin of the left subclavian artery from an anomalous anatomical location.


Discordant atrioventricular connection

Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.


Partial duplication of the distal phalanx of the 2nd finger

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


Calcium phosphate crystalluria

The presence of calcium phosphate crystals in the urine.


Fractured distal phalanx of pedal digit 3

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


Thyroid nodule

A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland.


Abnormal patella morphology

Abnormality of the patella (knee cap).


Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria: a portion of intra-abdominal umbilical vein that is at least 50% wider than the non-dilated portion; a dilatation of 9 mm or more, or a dilatation greater than 2 SD above the mean value for gestational age.


Aplasia of the middle phalanx of the 5th toe


Rhabdoid tumor of the kidney

A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.


Avulsion fractured tibia

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


Unusual virus reactivation

Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the reactivation would not be observed in an immunocompetent host.


Abnormal speech volume

Speech that is abnormally loud or quiet for the social context in which it is spoken.


Reduced amygdala volume

A decrease in the volume (size) of the amygdyla.


gonadal dysgenesis

A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.


Abnormality of the epiphysis of the distal phalanx of the 4th toe


Decreased pulmonary fissure count

Lack of one or more of the normal pulmonary fissures.


Exaggerated rugosity of the labia majora

Marked rugae formation of the skin of the labia majora.


Anorectal abscess

An abscess located at the junction of the anal canal and the rectum.


Reduced C-peptide level

A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.


Increased circulating thyroglobulin level

An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.


Temporal cortical atrophy

Atrophy of the temporal cortex.


Phenylalaninuria

Increased level of phenylalanine in urine.


Bullet-shaped middle phalanx of the 5th finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected.


urethral obstruction

Blockage of the normal flow of urine in the urethra.


Aplasia of the 3rd metacarpal

Absence of the third long bone of the hand.


Curved thumb phalanx

A deviation from the normal straight shape of a thumb phalanx.


Decreased circulating parathyroid hormone level

An abnormally decreased concentration of parathyroid hormone.


Vertebral artery calcification

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


Enlarged tectum

Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem.


Pulmonary valve defects

Any defect in the valve connecting the heart and the pulmonary artery.


Cardiac teratoma

A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumor size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone.


Triplomyelia

Triplication of the spinal cord - extremely rare.


Impaired collagen-induced platelet aggregation

Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.


Follicular hyperkeratosis

A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.


Abnormal adiponectin level

A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.


Fractured sternoclavicular joint

A partial or complete breakage of the sternoclavicular joint.


Fibrillar glomerular subepithelial deposits

Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).


Aplasia cutis congenita of scalp

A developmental defect resulting in the congenital absence of skin on the scalp.


Inability to walk

Incapability to ambulate.


Focal aware emotional seizure with crying

Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout.


Everted antitragus

Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear).


Ovarian torsion

Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary.


Left aortic arch with isolated subclavian artery

The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis.


Aplasia/Hypoplasia of the distal phalanx of the thumb


Abnormal circulating C-reactive protein concentration

Any deviation from the normal concentration of C-reactive protein in the blood circulation.


Shoulder muscle hypoplasia

Underdevelopment of muscles of the shoulder.


Temporal lobe calcification

The presence of calcium deposition within the temporal lobe of the brain.


Decreased circulating dihydrotestosterone concentration

A reduced concentration of dihydrotestosterone in the blood circulation.


congestive splenomegaly

Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices.


Multinucleation of renal tubular epithelial cells

Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view.


Sertoli cell-only phenotype

A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis.


Stiff knee

A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity.


Cone-shaped epiphysis of the middle phalanx of the 3rd finger

A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.


Sclerosis of the middle phalanx of the 5th toe


Increased serum zinc

An increased consentration of zinc in the blood.


Aplasia of the sweat glands

Absence of the sweat glands.


Ileal atresia

An abnormal closure, or atresia of the tubular structure of the ileum.


Torsion of appendix of testis

The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention.


Arterial occlusion

Blockage of blood flow through an artery.


Abnormal platelet aggregation

An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.


Distal humeral metaphyseal irregularity

Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).


Thinking-induced seizure

Seizures induced by thinking and decision-making.


Absence of acoustic reflex

Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.


Glomerular capillary wire loop deposits

Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop.


Tragal bridge of crus of helix

The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix.


Neutrophilia in absence of infection

An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders.


Increased overbite

Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.


Vaginal bleeding during sex

Bleeding during sex.


brachydactyly type D

A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1.


Abnormality of the urinary system

An abnormality of the urinary system.


Absent humeral epiphyseal ossification

Lack of formation of bone in the epiphysis of the humerus.


Non-necrotizing granuloma

A granuloma which is not associated with necrotic changes.


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

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


Narrow nasal tip

Decrease in width of the nasal tip.


Fetal trigonocephaly

A fetal ultrasound finding defined by flattening of the occiput with pointing of the frontal bones and brachycephaly with an increased cephalic index. It is characterized by keel shaped deformity of forehead with midline ridge, bilateral fronto temporal constriction with compensatory biparietal expansion, supra orbital and lateral orbital retrusion and hypotelorism. This finding is said to resemble a strawberry.


Bracket epiphysis of the 1st metacarpal

An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate.


Prominent median palatal raphe

Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.


primary cutaneous amyloidosis

Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis.


lobar holoprosencephaly

Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.