Abnormal lymph node cell composition

A deviation from the normal distribution of cell types or their relative proprotions in a lymph node.


Osteolytic defects of the proximal phalanx of the 2nd toe

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


choanal atresia

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

Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.


Decreased CSF histidine concentration

Abnormally decreased levels of histidine in cerebrospinal fluid.


Hepatic bridging fibrosis

Hepatic fibrosis that reaches from a portal area to another portal area.


Tented upper lip vermilion

Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.


Reduced CSF dopamine concentration

Decreased concentration of dopamine in the cerebrospinal fluid (CSF).


Food-induced anaphylaxis

Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food.


Pulmonary venous hypertension

An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.


Increased blood folate concentration

An elevated circulating concentration of folic acid, which is also known as vitamin B9.


Happy demeanor

A conspicuously happy disposition, characterized by frequent smiling and laughing, which may be contextually inappropriate or unrelated to the situation.


Abnormality of B cell physiology

An abnormality of the physiological functioning of B cells.


Elevated circulating 3-hydroxybutyryl-carnitine concentration

Concentration of 3-hydroxybutyryl-carnitine in the blood circulation above the upper limit of normal.


Disseminated nontuberculous mycobacterial infection

An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.


Contracture of the distal interphalangeal joint of the 3rd finger

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


Fulminant hepatic failure

Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.


brachydactyly type A4

Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.


Tracheal duplication cyst

A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium.


Jaw claudication

Pain in the jaw or ear induced by chewing or otherwise moving the jaw.


Abnormal spinal meningeal morphology

Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord.


Cellular crescent

A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix.


Chronic furunculosis

A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.


EEG with frontal focal spike waves

EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


Recurrent infections

Increased susceptibility to infections.


Renal interstitial hemorrhage

A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core.


Cone-shaped epiphysis of the proximal phalanx of the hallux


Shortening of all distal phalanges of the toes

Abnormally short distal phalanx of toe of all toes.


Ivory epiphysis of the proximal phalanx of the 4th finger

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


supratentorial primitive neuroectodermal tumor

A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region.


Pituitary calcification

Deposition of calcium salts in the pituitary gland.


Vaginal pruritus

A sensation of itching in the vagina.


Decreased iduronate sulfatase level

An decreased level of iduronate-2-sulfatase activity in the blood circulation.


Abnormality of the lower urinary tract

An abnormality of the lower urinary tract.


Aplasia cutis congenita over the scalp vertex

A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.


Distal peripheral sensory neuropathy

Peripheral sensory neuropathy affecting primarily distal sensation.


Impaired leukocyte adhesion

During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation.


EEG with parietal epileptiform discharges

Focal epileptiform EEG discharges recorded in the parietal region.


Brain xanthomatosis

Lipid deposits localized within the brain. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration

An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure.


Straight clavicles

An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .


Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Abnormal oral mucosa morphology

Abnormality of the oral mucosa.


Tiger tail banding

An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.


Eating-induced seizure

A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.


Focal aware sensory seizure with vestibular features

A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.


Abnormal cortical gyration

An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.


Clinodactyly of the 4th toe

Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).


Laryngeal mass

A lump in the region of the larynx. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup. Laryngeal masses can be visualized by multiple methods include computed tomography.


Abnormality of the distal phalanx of the 5th toe


Prominent xiphoid process

Increased prominence of the xiphoid process of the sternum.


Cerebral inclusion bodies

Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.


Cochlear aplasia

Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.


Bilateral conductive hearing impairment

A bilateral type of conductive hearing impairment.


Double aortic arch

A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).


Exercise-induced hemolysis

A form of hemolytic anemia that can be triggered by exertion.


Nail-biting

Habitual biting of one's own fingernails.


Patellar dislocation

The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.


Humeroulnar synostosis

An abnormal osseous union (fusion) between the ulna and the humerus.


Short toe

A toe that appears disproportionately short compared to the foot.


Bullet-shaped proximal phalanx of the 4th toe

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


Pseudoepiphyses of the proximal phalanges of the hand

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


Hyperactive renin-angiotensin system

An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.


Calcium phosphate nephrolithiasis

The presence of calcium- and phosphate-containing calculi (stones) in the kidneys.


Muscular subvalvular aortic stenosis

A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.


Absent phalangeal crease

Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).


Sclerosis of the proximal phalanx of the 4th toe


Metaphyseal enchondromatosis

An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.


Abnormal tricuspid valve physiology

Any functional defect of the tricuspid valve.


Complete cleft hard palate

Cleft hard palate in which the cleft goes through the entire length of the hard palate, ie. from the incisor foramen to the anterior border of the soft palate.


Persistent fever

Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks.


Enlarged epiphysis of the proximal phalanx of the 3rd toe


Fragmentation of the epiphyses of the distal phalanges of the hand


Split nail

A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.


Elevated red cell adenosine deaminase activity

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


Curved distal phalanx of the 3rd toe

A deviation from the normal straight form of the distal phalanx of the third toe.


Abnormality of artery of lower lip

An abnormality of an artery of lower lip.


Myoclonic tremor

A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.


Abnormal alpha granule content

A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.


Chronic decreased circulating IgG3

A lasting decrease of immunoglobulin G3 (IgG3) in the blood.


Abnormal blood folate concentration

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


Transient decreased circulating IgG4

A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation.


Supracardiac total anomalous pulmonary venous connection

Type 1 total anomalous pulmonary venous connection.


Reduced forced expiratory volume in one second

An abnormal reduction in the amount of air a person can forcefully expel in one second.


Reduced circulating growth hormone concentration

Concentration of growth hormone in the blood circulation below normal limits.


Anemia due to reduced life span of red cells

A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.


pseudohypoparathyroidism

Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).


Abnormal HDL3c concentration

Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.


Hypomanganesemia

A reduction below the normal concentration of manganese in the blood.


Decreased pre-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 before the administration of a bronchodilating medication.


Abnormal oral glucose tolerance

An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.


Pancreatic calcification

The presence of abnormal calcium deposition lesions in the pancreas.


Leukocyte inclusion bodies

The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.


Autonomic epileptic aura

An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region.


Smooth philtrum

Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.


Recurrent respiratory infections

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


Abnormal fear-induced behavior

An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal responses to fear or abnormal fear levels. Examples of such behavior include avoiding fear-inducing situations.


Cortical thickening of the forearm bones


Homocitrullinuria

An increased amount of L-homocitrulline in the urine. L-homocitrulline is an L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders.


Decreased circulating T4 concentration

A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).


Oropharyngeal squamous papilloma

A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus].


Cervical spinal canal stenosis

An abnormal narrowing of the cervical spinal canal.


Hypermobility of toe joints

An ability of the toe joints to move beyond their normal range of motion.


Type I cryptotia

A type of cryptotia associated with reduction in size of the antihelix and superior crus.


Small intestinal polyposis

The presence of multiple polyps in the small intestine.


Passive dorsiflexion of the 5th finger more than 90 degrees

An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal.


Chronic disseminated intravascular coagulation

A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.


Stippling of thumb epiphysis

The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb.


Excessive fire setting

The inability to control urges of deliberately setting fires for pleasure and gratification, without any criminal intent.


Abnormality of the respiratory system

An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.


Refractory status epilepticus

Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.


autosomal dominant prognathism

Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).


Abnormality of the elbow

An anomaly of the joint that connects the upper and the lower arm.


Spoken word recognition deficit

Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.


Hemihypertrophy of lower limb

Overgrowth of only one leg.


Increased level of galactitol in plasma

An increase in the level of galactitol in the plasma.


Periventricular ribbonlike heterotopia

Heterotopia that forms a continuous wavy line along the ventricular wall.


Inflammatory cap polyp

A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp.


Abnormal fetal cardiovascular physiology

Abnormal functionality of the fetal cardiovascular system.


inherited torticollis

A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation.


Recurrent pharyngitis

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


Fibro-obliterative bile-duct lesion

A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar.


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

An abnormal 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.


Abnormal urine urobilinogen level

An abnormal concentration of urobilinogen in the urine.


Abnormal dental morphology

An abnormality of the morphology of the tooth.


Pulmonary paraglioma

A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells.


46,XY complete gonadal dysgenesis

46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.


Bruxism during sleep

Bruxism is a condition in which you grind, gnash, or clench your teeth while asleep.


Intranuclear cardiomyocyte mitochondria

Abnormal localization of mitochondria within the nuclei of cardiomyocytes.


Pleural cyst

A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.


Anti-GM1 IgM antibody positivity

The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1.


meningioma

A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)


Postcoital vaginal bleeding

Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle.


Respiratory insufficiency due to defective ciliary clearance


Gingival fragility

Gums that are easily damaged.


Pulsus paradoxus

Pulsus paradoxus refers to a systolic pressure drop greater than 10mmHg during inspiration.


Abnormal immunoglobulin level

An abnormal deviation from normal levels of immunoglobulins in blood.


Intermediate atrioventricular canal defect

A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices.


Large iliac wing

Increased size of the ilium ala.


Abnormal cystatin C level

Any deviation from the normal concentration of cystatin C in serum or plasma.


Perinuclear cardiomyocyte vacuolization

Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart.


Slow-growing scalp hair

Scalp hair whose growth is slower than normal.


Abnormality of the biliary system

An abnormality of the biliary system.


Tetralogy of Fallot with pulmonary atresia

An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.


Prominent nose

Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.


Infantile hydrocele

Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation.


Obstructive shock

A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism).


Impaired renal tubular reabsorption of magnesium

Decreased renal tubular reabsorption of magnesium.


Short dental root

Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.


Triangular epiphysis of the distal phalanx of the 5th finger

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


Absent epiphysis of the middle phalanx of the 5th toe


Tetraplegia/tetraparesis

Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.


Flattened proximal radial epiphyses

An abnormally flat form of the proximal epiphysis of the radius.


Elevated circulating tiglylcarnitine concentration

Concentration of tiglylcarnitine (C5:1) in the blood circulation above the upper limit of normal.


Absent epiphysis of the distal phalanx of the 5th toe


Decreased CD69 upregulation upon TCR activation

Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR).


Abnormal dental pulp morphology

An abnormality of the dental pulp.


Decreased glucagon level

A reduced concentration of glucagon in the blood circulation.


Complete duplication of the proximal phalanx of the hallux

Complete duplication of the proximal phalanx of big toe.


Reduced circulating C-reactive protein concecntration

An abnormal decrease of the C-reactive protein level in serum.


Thickened helices

Increased thickness of the helix of the ear.


Beevor's sign

Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus.


pituitary hypoplasia

Incomplete development of the pituitary gland.


Lop ear

Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.


EEG with frontal sharp waves

EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec.


Bilateral tonic-clonic seizure on awakening

Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day).


Leucinuria

Increased level of leucine in urine.


Partial anosmia

Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).


Short first metatarsal

Short first metatarsal bone.


Glomerular capillary wall duplication with cellular interposition

Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.


Tree-in-bud pattern

The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376).


Lethal short-trunk short stature

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth.


Aortic rupture

Tearing of the aortic wall generally associated with profuse internal bleeding.


Thin clavicles

Abnormally reduced diameter (cross section) of the clavicles.


Increased circulating dehydroepiandrosterone-sulfate concentration

Concentration of dehydroepiandrosterone-sulfate in the blood circulation above the upper limit of normal.


Fragile nails

Nails that easily break.


Apical pulmonary opacity

An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space.


Abnormality of the immune system

An abnormality of the immune system.


Abnormal gallbladder morphology

A structural anomaly of the gallbladder.


Neoplasm of the anterior pituitary

A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.


Abnormally low T cell receptor excision circle level

Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.


Complete cleft soft palate

Cleft soft palate in which the cleft goes through the entire length of the soft palate, i.e. from the posterior border of the hard palate until the uvula.


Abnormal liver metabolite concentration

The concentration of a metabolite in the liver is above or below the limits of normal.


Absent tonsils

Lack of observable tonsillar tissue.


Renal interstitial granulomas

Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present.


Gastric arteriovenous malformation

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


Isaac syndrome

Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.


Hypoplastic frontal sinuses

Underdevelopment of frontal sinus.


Hepatic periportal necrosis

A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.


Complete duplication of the 1st metatarsal

A developmental defect consisting in the complete duplication of the first metatarsal bone.


Stippling of the epiphyses of the 3rd toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe.


Placidity

Flat affect and reduced response to emotional stimuli. Fear and anger responses that are normally present are blunted.


Elevated circulating dihydrouracil concentration

An increased concentration of dihydrouracil in the blood circulation. Dihydrouracil is an intermediate in the catabolism of uracil that is also known as 5,6-dihydrouracil.


Partial diaphragmatic absence of pericardium

Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.


Abnormal jugular vein morphology

Any structural abnormality of a jugular vein.


Dimple chin

A persistent midline depression of the skin over the fat pad of the chin.


Abnormality of the spinocerebellar tracts

An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.


Widened greater sciatic notch

The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch.


Abnormal response to gonadotropin-releasing hormone stimulation test

An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).


Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Complete breech presentation

A kind of breech presentation in which the hips are flexed and the knees are flexed.


Ivory epiphysis of the distal phalanx of the 2nd toe


Anasarca

An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.


Increased circulating mead acid level

An abnormally elevated concentration od mead acid in the blood circulation.


Decreased proportion of naive T cells

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


Anti-voltage-gated potassium channel antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against a voltage-gated potassium channel.


Abnormal auditory canal morphology

Any structural abnormality of the external acoustic tube (also known as the auditory canal).


Bracket epiphysis of the 1st metatarsal

The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form.


Fractured distal tarsal bone 2

A partial or complete breakage of the distal tarsal bone 2.


Abnormal number of hair whorls

More than two clockwise hair whorls.


Triangular epiphyses of the 4th finger

A triangular appearance of the epiphyses of the 4th finger of the hand.


The presence of autoantibodies in the blood circulation that react against myeloperoxidase.


Bilateral triphalangeal thumbs

A bilateral form of triphalangeal thumb.


Abnormal interest in others

A social interest in others that is abnormal given the social context. This can include an increased interest with another person or an abnormal lack of interest in other people.


Cardiac hemangioma

Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.


Aplasia/Hypoplasia of facial bones

A developmental defect characterized by absence or underdevelopment of one or more facial bone.


Distal aortic arch hypoplasia

A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta.


Focal impaired awareness sensory seizure with vestibular features

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


Weakness due to upper motor neuron dysfunction

Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.


Renal juxtaglomerular cell hypertrophy/hyperplasia

Increased number and size of the juxtaglomerular cells.


Proximal humeral metaphyseal irregularity

Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).


Patchy sclerosis of the middle phalanx of the 5th toe

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


Fingernail dysplasia

An abnormality of the development of the fingernails.


Bowed forearm bones

A bending or abnormal curvature affecting either the radius, the ulna, or both.


Increased CSF glutamate concentration

Abnormally increased levels of glutamic acid in cerebrospinal fluid.


Horseshoe lung

A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac.


T2 hypointense basal ganglia

A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia.


Bronchial atresia

A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.


Focal cognitive seizure with dyslexia/alexia

A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation.


Midshaft hypospadias

Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.


Abnormal oligodendroglia morphology

One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers.


Short distal phalanx of the 3rd toe

Developmental hypoplasia of the distal phalanx of third toe.


Bilateral apical pulmonary fibrosis

A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray.


Decreased CSF protein concentration

CSF total protein level is below the lower limit of normal.


Increased urinary non-proteinogenic amino acid level

An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


Patchy sclerosis of the proximal phalanx of the 4th finger

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


Fractured acetabular part of hip bone

A partial or complete breakage of the acetabular part of hip bone.


otitis media, susceptibility to

Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.


Abnormal vertebral morphology

An abnormality of one or more of the vertebrae.


Prolonged P wave

Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction.


Myoclonic status epilepticus with coma

A type of myoclonic status epilepticus in the presence of coma.


Irregular epiphysis of the middle phalanx of the 5th toe


anti-LAD-1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180.


Absent epiphysis of the 1st metatarsal

Failure to form (agenesis) of the epiphysis of the 1st metatarsal.


Posttussive emesis

Vomiting following a coughing spell.


Curved middle phalanx of the 4th toe

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


ariboflavinosis

A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed)


brachydactyly type A2

Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.


Alpha-aminoadipic aciduria

The concentration of alpha-aminoadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormal liver lobulation

Formation of abnormal lobules (small masses of tissue) in the liver.


Decreased QRS voltage

Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm.


Abnormality of serum cytokine level

Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.


Linear earlobe crease

A transverse linear fissure (crease) in the lobule of the ear.


Increased proportion of unswitched memory B cells

An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells.


Arcuate vein intraluminal thrombi

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


Hyperglutaminuria

An increased concentration of glutamine in the urine.


histiocytoid cardiomyopathy

Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.


metaphyseal chondrodysplasia

An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.


Impaired glucose tolerance

An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.


Abnormal platelet morphology

An anomaly in platelet form, ultrastructure, or intracellular organelles.


Finger pain

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


1-4 toe syndactyly

Syndactyly with fusion of toes one to four.


transient hypogammaglobulinemia of infancy

A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span.


Dairy allergy

Hypersensitivity in form of an adverse immune reaction against dairy.


Intracranial dermoid cyst

A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands.


Bowing of the long bones

A bending or abnormal curvature of a long bone.


Absent toe

Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.


Bull's eye rash

A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings.


Abnormal drug response

An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy.


Dental crowding

Changes in alignment of teeth in the dental arch


Paroxysmal dyskinesia

Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.


Upper limb muscle hypoplasia

Underdevelopment of muscles of the arm.


Short 5th metacarpal

Short fifth metacarpal bone.


Central nervous system axonal spheroid

Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements.


Narrow palm

For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.


Cellular immunodeficiency

An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.


Impaired toe-walking ability

Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes.


Small epiphysis of the distal phalanx of the 5th toe


Transient erythroblastopenia

A transient reduction in the number of erythroblasts in the circulation.


Gordon reflex

Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe).


Abnormal monocyte count

An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.


Thickened aortic valve cusp

An abnormally increased thickness of a leaflet of the aortic valve.


Adenomatous colonic polyposis

Presence of multiple adenomatous polyps in the colon.


Ivory epiphysis of the distal phalanx of the 3rd finger

Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Osteolytic defects of the proximal phalanx of the 5th toe


Generalized aminoaciduria

An increased concentration of all types of amino acid in the urine.


Abnormal urine isobutyrylglycine concentration

Abnormal concentration of isobutyrylglycine in the urine.


Anti-Th/To antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To.


Enlarged cerebellum

An abnormally increased size of the cerebellum compared to other brain structures.


Hypoplastic hippocampus

Underdevelopment of the hippocampus.


Decreased uridine diphosphate glucose-4-epimerase level in plasma

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


Osteolytic defects of the distal phalanx of the 3rd finger

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


Excessively loud speech

Speech which is abnormally loud that is not due to a structural or muscular abnormality.


Vasculitis by anatomical site

Vasculitis categorized according to the anatomical site where the finding is localized.


Focal behavior arrest seizure

A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure.


Reduced erythrocyte arginase activity

Activity or concentration of arginase (EC 3.5.3.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle.


Severe hearing impairment

A severe form of hearing impairment.


Impaired ability to organize

Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine.


Calcification of the interosseus membrane of the forearm

Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna.


Bullet-shaped 1st metacarpal

The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped").


Otitis media with effusion

Otitis media characterized by thick or sticky fluid behind the tympanic membrane.


Folie à deux

Delusional beliefs are transmitted from one individual to another.


Abdominal cramps

A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.


Diffuse subcortical band heterotopia

Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain.


Short lower limbs

Shortening of the legs related to developmental hypoplasia of the bones of the leg.


Patchy sclerosis of the middle phalanx of the 4th toe

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


Flushing

Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.


Panhypogammaglobulinemia

A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.


Stomatocytosis

The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.


Sclerosis of the proximal phalanx of the thumb

An elevation of bone density in the proximal phalanx of the thumb.


Abnormal neutrophil morphology

An abnormal form or size of neutrophils.


Aplasia of the ulna

Missing ulna bone associated with congenital failure of development.


EEG with constitutional variants

An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic.


rhombencephalosynapsis

Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterized by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.


Nipple tenderness

Pain or discomfort produced by touching the nipple.


Macrodontia of permanent maxillary central incisor

Increased size of the maxillary central secondary incisor tooth.


Increased circulating free fatty acid level

A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.


Thenar muscle atrophy

Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.


Left ventricular aneurysm

A severely scarred portion of infarcted ventricular myocardium that does not contract normally but instead bulges outward while the rest of the ventricle contracts during systole.


Abnormal peripheral nerve morphology by anatomical site

Abnormal morphology of a specific peripheral nerve


Steroid-responsive anemia

Amelioration of anemia upon treatment with a steroid medication.


cystathioninuria

Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.


Duplication of the proximal phalanx of the 5th toe

Partial or complete duplication of the proximal phalanx of fifth toe.


Cone-shaped epiphysis of the 1st metatarsal

A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot.


Decreased CSF creatinine concentration

Concentration of creatinine in the cerebrrospinal fluid below the lower limit of normal.


Irregular epiphysis of the distal phalanx of the 2nd toe


Partial duplication of the distal phalanx of the 5th finger

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


Arcuate vein intimal/medial myxomatous degeneration

Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney.


Abnormal left ventricle morphology

Any structural abnormality of the left ventricle of the heart.


Abnormal CSF amino acid concentration

Any deviation from the normal concentration of amino acids in the cerebrospinal fluid.


Hypoplastic male external genitalia

Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).


Neonatal electro-clinical seizure with behavior arrest

Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations.


Abnormal subclavian artery morphology

Any anomaly of a subclavian artery.


Short 5th toe

Underdevelopment (hypoplasia) of the fifth toe.


Decreased prealbumin level

A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status.


EEG with parietal focal spikes

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


Broad 5th toe

A broad appearance of the fifth toe.


macroglossia

The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)


Sclerosis of the distal phalanx of the 4th toe


Drug-sensitive hemolytic anemia

A form of hemolytic anemia that is triggered by ingestion of certain drugs.


Aplasia/Hypoplasia of the phalanges of the 2nd toe


Quadriceps muscle weakness

Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).


Elevated circulating dodecanoylcarnitine concentration

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


Sclerosis of distal toe phalanx

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


congenital radioulnar synostosis

Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.


Severe B lymphocytopenia

A severe form of B lymphocytopenia in which the count of B cells is very low or absent.


Abnormal circulating sarcosine concentration

An deviation from the normal concentration of sarcosine in the blood circulation.


Decreased retinol-binding protein level

A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity.


Cubitus valgus

Abnormal positioning in which the elbows are turned out.


Xanthine nephrolithiasis

The presence of xanthine-containing calculi (stones) in the kidneys.


Diffuse reticular or finely nodular infiltrations


proximal renal tubular acidosis

Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.


Bilateral ductus arteriosus

The presence of both a left and a right ductus arteriosus.


Methioninuria

Level of methionine in urine above the upper limit of normal.


Conical primary incisor

An abnormal conical morphology of the primary incisor.


Alien limb phenomenon

Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb.


Typical atrial flutter

Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.


Abnormal cell morphology

Any anomaly of cell structure.


autonomic nervous system neoplasm

Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system.


Abnormal periventricular white matter morphology

A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.


Chronic decreased circulating IgD

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


trimethylaminuria

A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals.


Bronchial diverticula

Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum.


Abnormal ossification of the trapezoid bone


Thick pachygyria

Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.


Proboscis

A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.


Hydroxylysinemia

An increased concentration of hydroxylysine in the blood circulation. Hydroxylysine arises from a post-translational hydroxy modification of lysine and is unique to collagen and proteins containing collagen-like sequences. Elevated concentrations of hydroxylysine may indicate increased bone turnover.


Anti-CARP VIII antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII).


Excessive bleeding after a venipuncture

An abnormal high amount of bleeding following the procedure of taking a blood sample.


Underdeveloped stem of antihelix

Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix.


Diaphyseal cortical sclerosis

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


V-sign

Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest.


Bullet-shaped 5th toe phalanx

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


Abnormality of the tonsils

An abnormality of the tonsils.


Digital ulcer

An open sore on the surface of the skin of a finger or toe.


Short distal phalanx of the 3rd finger

Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.


Aplasia of the distal phalanx of the 4th toe


Lower-limb metaphyseal irregularity

Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.


Increased CSF isoleucine concentration

Abnormally increased levels of isoleucine in cerebrospinal fluid.


Abnormal esophagus morphology

A structural abnormality of the esophagus.


Fragmentation of the epiphyses of the 5th toe


Bracket epiphysis of the distal phalanx of the 4th toe


Facial telangiectasia in butterfly midface distribution

Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.


Peripheral axonal atrophy

Atrophic changes of axons of the peripheral nervous system.


Hypoplasia of deltoid muscle

Underdevelopment of the deltoid muscle.


Premature fusion of the radial epiphyseal plates

A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone.


spina bifida occulta

The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic.


Stiff ankle

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


Tapering pointed ends of distal finger phalanges

A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms).


Inlet ventricular septal defect

A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.


Focal aware perseverative automatism seizure

A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout.


Cone-shaped epiphyses of the phalanges of the hand

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


Renal steatosis

Abnormal fat accumulation in the kidneys.


Pruritis on hand

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 hand.


Abnormal HDL3b concentration

Any deviation from 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.


Abnormal ulnar styloid process morphology


Abnormal renal tubular resorption

An abnormality of renal absorption.


kidney sarcoma

A sarcoma involving a kidney.


Focal impaired awareness cognitive seizure with dyslexia/alexia

A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure.


P wave inversion

P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves.


Thick nasal septum

Abnormally increased thickness of the nasal septum.


Abnormal response to endocrine stimulation test

An anomalous response to a test that is designed to probe the function of the endocrine system.


Aplasia/Hypoplasia of the phalanges of the toes


Abnormal connection of the cardiac segments

A deviance in the normal connections between two cardiac segements.


Food allergy

Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.


Multiple lineage myelodysplasia

Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic.


male reproductive system neoplasm

A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma.


Fractured epiphysis of femur

A partial or complete breakage of the epiphysis of femur.


Abnormal plasma cell count

An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.


Cow milk allergy

Hypersensitivity in form of an adverse immune reaction against cow milk protein.


Intracranial cystic lesion

A cystic lesion originating within the brain.


renal hypoplasia

Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.


atrial septal defect, sinus venosus type

An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting.


Thimble-shaped middle phalanges of hand

The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat.


isolated congenital growth hormone deficiency

Insufficient production of growth hormone.


Abnormality of the choanae

Abnormality of the choanae (the posterior nasal apertures).


Abnormality of the frontal hairline

An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.


Monoclonal elevation of IgG heavy chain

A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain.


Abnormal CSF citrulline concentration

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


Glomerular basement membrane lamellation

Presence of abnormal additional layers of the basement membrane of the glomerulus.


Abnormal renal tubular lumen morphology

Abnormal structure or form of the lumen (opening) of kidney tubules.


Right atrial isomerism

Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.


Abnormal erythrocyte enzyme level

An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.


Prominent U wave

Increased amplitude of the U wave, defined as an amplitude greater than 1-2mm or 25 percent of the height of the T wave.


Absent dorsal skin creases over affected joints


tympanic paraganglioma

A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss.


Myocardial bridging

A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course.


scimitar syndrome

Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt.


Bowing of the vocal cords

Bowing (abnormal curvature) of the vocal folds.


Sclerosis with transverse striations in metaphyses of the upper limbs


Episodic eosinophilia

Recurrent episodes of marked eosinophilia that resolve spontaneously.


Chilblains

Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.


Split hand

A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.


Displacement of the urethral meatus

A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).


Neuroepithelial cyst

A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality.


Subcortical heterotopia

A form of heterotopia were the mislocalized gray matter is located deep within the white matter.


Hemimacroglossia

Increased length and width of one half of the tounge.


pili torti

Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome.


perineural cyst

Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy.


Decreased female libido

Diminished sexual desire in female.


Rudimentary fibula

Absent or nearly absent fibula. (Does not include aplastic)


Enlarged epiphysis of the middle phalanx of the 3rd toe


Architectural distortion of the lung

Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss.


Hypoasparaginemia

A decreased amount of asparagine in the blood.


Abnormal circulating prostaglandin circulation

Any deviation from the normal concentration of a prostaglandin in the blood circulation.


Abnormality of the genital system

An abnormality of the genital system.


Substantia nigra gliosis

Focal proliferation of glial cells in the substantia nigra.


Abnormal alveolar macrophage morphology

Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles.


apnea of prematurity

Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases.


Granulovacuolar degeneration

Electron-dense granules within double membrane-bound cytoplasmic vacuoles.


Airway hyperresponsiveness

An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist.


Elevated circulating tiglylglycine concentration

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


Decreased platelet P2Y12 receptor

Decreased cell membrane concentration of P2Y12 receptor.


Elevated circulating S-sulfocysteine concentration

Concentration of S-sulfocysteine in the blood circulation above the upper limit of normal.


Leucine crystalluria

The presence of leucine crystals in the urine.


Abnormal peer relationships

The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships or lacking close friends.


Sclerotic foci of metaphyses of the elbow


Lower-limb joint contracture

A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.


Abnormal fetal pulmonary morphology

An anomalous structural finding of the fetal lungs. 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.


Apneic episodes precipitated by illness, fatigue, stress

Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.


Abnormal circulating selenium concentration

Any deviation from the normal circulating concentration of selenium.


Mesomelic short stature

A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).


Cubitus varus

A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body.


Underdeveloped inferior crus of antihelix

Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem.


Shoulder subluxation

A partial dislocation of the shoulder joint.


Posterior subluxation of radial head

Partial dislocation of the head of the radius in the posterior direction.


Abnormality of the periungual region

An abnormality of the region around the nails of the fingers or toes.


Widely spaced teeth

Increased spaces (diastemata) between most of the teeth in the same dental arch.


Abnormal fetal morphology

Any structural anomaly of the fetus.


Elevated circulating C16 acylcarnitine concentration

Concentration of C16 acylcarnitines in the blood circulation above the upper limit of normal. C16 acylcarnitines have a sixteen-carbon acyl chain.


Irregular epiphysis of the proximal phalanx of the 4th toe


Malabsorption

Impaired ability to absorb one or more nutrients from the intestine.


Increased immunoglobulin level in body fluid

An elevation from normal levels of immunoglobulins in body fluids, such as mucous.


Fractured tarsal bone

A partial or complete breakage of the tarsal bone.


Positive ferric chloride test

If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.


Incomplete bilateral cleft lip

Bilateral cleft lip in which the cleft lip on both sides are incomplete (i.e. start from the bottom of the upper lip but do not reach the nasal cavity), or the cleft lip on one is incomplete and a microform on the other side.


Reduced TSH response to thyrotrophin-releasing hormone stimulation test

A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test.


Crouzon syndrome

Crouzon disease is characterized by craniosynostosis and facial hypoplasia.


Palate fistula

A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.


Gangliocytoma

A low-grade central nervous system tumor composed of dysplastic ganglion cells, usually presenting in children or young adults and located in the cerebral hemispheres.


Neoplasm of the nose

Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.


Autonomic status epilepticus

Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal.


Left posterior fascicular block

Conduction block in the posterior division of the left bundle branch of the bundle of His.


Progressive leukoencephalopathy

Leukoencephalopathy that gets more severe with time.


Spastic hemiparetic gait

Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster.


Abnormality of the third metatarsal bone

An abnormality of the third metatarsal bone.


Coated aorta

Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans


Increased peripheral myelin thickness

Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.


Ivory epiphysis of the middle phalanx of the 4th toe


Prolonged bleeding after dental extraction

Prolonged bleeding post dental extraction sufficient to require medical intervention.


Increased CSF serine concentration

Abnormally increased levels of serine in cerebrospinal fluid.


Increased circulating 17 hydroxypregnenolone concentration

Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids.


Flat capital femoral epiphysis

An abnormal flattening of the proximal epiphysis of the femur.


Lower limb asymmetry

A difference in length or diameter between the left and right leg.


Suprabasal cleavage

Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells.


punctate palmoplantar keratoderma

A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.


Periventricular laminar heterotopia

A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral.


Pilonidal abscess

A hair-containing cyst or sinus usually in the coccygeal region.


ear exostoses

A benign bony growth projecting outward from a bone surface within the external auditory canal.


Pancreatic lymphangiectasis

The presence of lymphangiectasis in the pancreas.


Reduced epidermal collagen XVII protein expression


Absent epiphysis of the distal phalanx of the 2nd finger

Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger.


Elevated circulating phytanic acid concentration

An abnormal elevation of phytanic acid.


Increased red cell hemolysis by shear stress


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


Chronic lactic acidosis

A chronic form of lactic acidemia.


Atypical sorting

Atypical focus on arranging, balancing, or positioning objects; may be atypical in focus or intensity.


Abnormal greater palatine artery morphology

An abnormality of a greater palatine artery.


nevus anemicus

A capillary vascular anomaly that is characterized by hypopigmented macules.


Restrictive ventricular septal defect

Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD.


Abnormal gastrointestinal motility

An anomaly of the muscular contractions that propel food though the gastrointestinal tract.


Decreased thyroid-stimulating hormone level

Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.


Abnormal circulating acylcarnitine concentration

Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.


Pseudoepiphyses of the phalanges of the hand

A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


Renal interstitial neutrophil infiltration

Increased numbers of neutrophils in the interstitial tissues of the kidney.


Aplasia/Hypoplasia of the 4th finger

A small/hypoplastic or absent/aplastic 4th (ring) finger.


Frontal upsweep of hair

Upward and/or sideward growth of anterior hair.


Sclerosis of the proximal phalanx of the 2nd toe

An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Small epiphysis of the middle phalanx of the 2nd toe


epidermoid cysts

The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule.


Venous varicosities of celiac and mesenteric vessels

Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.


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


Renal tubular epithelial cell mitosis

Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration.


Palmar hyperlinearity

Exaggerated skin markings (dermatoglyphics) on the palms of the hand.


Slender toe

Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.


Complete heart block with broad QRS complexes

A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex.


Abnormal pons morphology

A structural abnormality of the pons.


Abnormal circulating glutamine family amino acid concentration

Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation.


Abnormal bronchus physiology

Any anomaly of the function of the bronchi.


Subungual fibromas

The presence of fibromata beneath finger or toenails.


Small epiphyses of the 3rd finger

Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms.


Hypochondriac delusion

Bodily preoccupation, disease phobia, and a false fixed conviction of the presence of disease with no response to reassurance.


Cerebral cortical hemiatrophy

Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.


EEG with occipital slowing

Slowing in occipital areas of the scalp EEG.


Focal emotional seizure with crying

Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present.


Abnormal hairshaft morphology

An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin.


Absent epiphysis of the distal phalanx of the 3rd finger

Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger.


Osteolytic defects of the proximal phalanx of the 3rd toe


Limitation of joint mobility

A reduction in the freedom of movement of one or more joints.


Normocytic hypoplastic anemia

A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).


Wide capital femoral epiphyses

Abnormally wide morphology of the proximal epiphysis of the femur.


visceral heterotaxy

A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton.


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

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger.


Reduced isohemagglutinin level

Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).


Acute rhabdomyolysis

An acute form of rhabdomyolysis.


Swelling of proximal interphalangeal joints


Hypoglycinemia

An abnormally reduced concentration of glycine in the blood.


Triceps areflexia

Inability to elicit triceps tendon reflex.


Abnormality of the epiphysis of the proximal phalanx of the thumb

This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. 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.


Lack of response to verbal cues

A consistent failure to respond to any verbal cues.


Partial duplication of phalanx of the 2nd toe

Partial duplication of a phalanx of second toe.


Bullet-shaped middle phalanx of the 4th 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 4th finger is affected.


Single ventricle of indeterminate morphology


Decreased circulating heparan sulfate level

An abnormal decrease in the concentration of heparan sulfate in the blood.


pituitary gland disorder

A disease involving the pituitary gland.


Increased urinary cysteine level

An increased concentration of cysteine in the urine.


Brainstem dysplasia

A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.


Aplasia/Hypoplasia of the middle phalanx of the 3rd finger


Perivascular pre-capillary pulmonary artery inflammation

Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer).


cold urticaria

Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications.


unilateral polymicrogyria

Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria.


Coronal hypospadias

A mild form of hypospadias in which the urethra opens just under the corona glandis.


Abnormal serum estradiol

A deviation from normal concentrations of estradiol in the circulation.


Increased CSF xylitol concentration

The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal.


Oligoclonal T cell expansion

The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones.


patella aplasia/hypoplasia

Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.


Middle mediastinal mass

A type of inferior mediastinal mass that is located withinthe pericardium.


Irregular ossification of the humeral epiphyses


Decreased serum testosterone concentration


Elevated plasma pyrophosphate

An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.


Decreased level of platelet-activating factor


Excessive cerumen

An increased quantity of earwax.


Patchy sclerosis of hallux phalanx

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


Upper limb hypertonia

Increased muscle tone observed in the arms of the affected person.


EEG with central focal spike waves

EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


Progressive hypotrichosis

Progressively reduced or lacking hair growth.


Metatarsus adductus

The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.


Multiple suture craniosynostosis

Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.


Pituitary microadenoma

A pituitary adenoma that is less than 10 mm in diameter.


sarcosinemia

Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency.


Silent hypoxemia

Abnormally low blood oxygen level without the presence of dyspnea.


Tarsal sclerosis

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


Elevated circulating amyloid A

An increased concentration of serum amyloid A in the blood circulation.


Abnormality of the genitourinary system

The presence of any abnormality of the genitourinary system.


Cochlear nerve hypoplasia

A developmental defect characterized by underdevelopment of the cochlear nerve.


Inability to walk by childhood/adolescence


Scapulohumeral synostosis

Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.


Post-capillary pulmonary hypertension

Post-capillary pulmonary hypertension is a hemodynamic condition characterised by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units).


Biceps hypoplasia

Underdevelopment of the biceps muscle.


jugulotympanic paraganglioma

A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear.


Cutaneous syndactyly

A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.


Premature arteriosclerosis

Arteriosclerosis occurring at an age that is younger than usual.


Duplicated collecting system

A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.


Decreased serum creatinine

An abnormally reduced amount of creatinine in the blood.


Decreased number of sweat glands

The presence of fewer than normal sweat glands.


Crossed fused renal ectopia

A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.


Uncombable hair

Hair that is disorderly, stands out from the scalp, and cannot be combed flat.


Premature thelarche

Premature development of the breasts.


Perivascular myocardial immune cell infiltration

An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.


Renal corticomedullary cysts

The presence of multiple cysts at the border between the renal cortex and medulla.


Abnormal CSF albumin concentration

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


Aplasia/Hypoplasia of the 3rd metacarpal

Aplasia or Hypoplasia affecting the 3rd metacarpal.


Monoclonal elevation of IgG kappa chain

A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain.


Visceral epithelial cell capping

Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus.


Focal impaired awareness bilateral motor seizure

A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure.


Ectopic anus

Abnormal displacement or malposition of the anus.


Slender metacarpals

Decreased width of the metacarpal bones (that is, reduced diameter).


Disproportionate short stature

A kind of short stature in which different regions of the body are shortened to differing extents.


Focal impaired awareness hemifacial clonic seizure

Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure.


Elevated circulating aconitic acid concentration

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


Increased circulating IgG subclass

An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses.


Anti-mitochondrial M2 antibody positivity

The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum.


Focal cognitive seizure with illusion

A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation.


Aplasia/Hypoplasia of the testes

Absence or underdevelopment of the testes.


Addictive amphetamine use

Addiction to amphetamine or dextroamphetamine is a serious concern.


amastia

Absence of one or both mammary glands.


detrusor sphincter dyssynergia

A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation.