pyromania

description: A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting.


Abnormality of the respiratory system

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

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


Refractory status epilepticus

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


Anti-NR2A antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the N-Methyl-D-aspartate (NMDA) receptor NR2A subunit.


autosomal dominant prognathism

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

description: 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

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


Spoken word recognition deficit

description: 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

description: Overgrowth of only one leg.


Increased level of galactitol in plasma

description: An increase in the level of galactitol in the plasma.


Periventricular ribbonlike heterotopia

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


Inflammatory cap polyp

description: 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.


name: Abnormal fetal cardiovascular physiology

description: Abnormal functionality of the fetal cardiovascular system.


Habitual mouth breathing

description: A tendency to breathe through the mouth. Defined as over 25-30 percent of the air passing through the mouth instead of the nose, mouth breathing often occurs due to upper airway obstruction which reduces the nasal airflow and forces the air to enter completely or partially through oral cavity.


inherited torticollis

description: 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

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


Fibro-obliterative bile-duct lesion

description: 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.


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

description: 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

description: An abnormal concentration of urobilinogen in the urine.


Abnormal dental morphology

description: An abnormality of the morphology of the tooth.


Pulmonary paraglioma

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


46,XY complete gonadal dysgenesis

description: 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

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


Intranuclear cardiomyocyte mitochondria

description: Abnormal localization of mitochondria within the nuclei of cardiomyocytes.


Pleural cyst

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


Anti-GM1 IgM antibody positivity

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


meningioma

description: 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

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


name: Respiratory insufficiency due to defective ciliary clearance


Gingival fragility

description: Gums that are easily damaged.


Pulsus paradoxus

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


Abnormal immunoglobulin level

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


name: Intermediate atrioventricular canal defect

description: 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

description: Increased size of the ilium ala.


Abnormal cystatin C level

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


Perinuclear cardiomyocyte vacuolization

description: 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

description: Scalp hair whose growth is slower than normal.


Abnormality of the biliary system

description: An abnormality of the biliary system.


name: Tetralogy of Fallot with pulmonary atresia

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


Prominent nose

description: 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

description: 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

description: 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).


name: Impaired renal tubular reabsorption of magnesium

description: Decreased renal tubular reabsorption of magnesium.


Short dental root

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


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

description: 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.


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


Tetraplegia/tetraparesis

description: 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

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


name: Elevated circulating tiglylcarnitine concentration

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


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


name: Decreased CD69 upregulation upon TCR activation

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


Abnormal dental pulp morphology

description: An abnormality of the dental pulp.


Decreased glucagon level

description: A reduced concentration of glucagon in the blood circulation.


name: Complete duplication of the proximal phalanx of the hallux

description: Complete duplication of the proximal phalanx of big toe.


name: Reduced circulating C-reactive protein concecntration

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


Thickened helices

description: Increased thickness of the helix of the ear.


Beevor's sign

description: 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 fibers predominate pulling upwards the umbilicus.


pituitary hypoplasia

description: Incomplete development of the pituitary gland.


Lop ear

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


EEG with frontal sharp waves

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


name: Bilateral tonic-clonic seizure on awakening

description: 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

description: Increased level of leucine in urine.


Partial anosmia

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


Short first metatarsal

description: Short first metatarsal bone.


Tree-in-bud pattern

description: 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

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


Aortic rupture

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


name: Glomerular capillary wall duplication with cellular interposition

description: 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.


Thin clavicles

description: Abnormally reduced diameter (cross section) of the clavicles.


name: Increased circulating dehydroepiandrosterone-sulfate concentration

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


Fragile nails

description: Nails that easily break.


Apical pulmonary opacity

description: 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.


name: Abnormal CSF N-acetylaspartic acid concentration

description: Any deviation from the normal concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).


Abnormality of the immune system

description: An abnormality of the immune system.


Abnormal gallbladder morphology

description: A structural anomaly of the gallbladder.


Neoplasm of the anterior pituitary

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


name: Abnormally low T cell receptor excision circle level

description: 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

description: 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.


Femoral neck fracture

description: A partial or complete breakage of the neck of femur.


Abnormal liver metabolite concentration

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


Absent tonsils

description: Lack of observable tonsillar tissue.


Renal interstitial granulomas

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


Gastric arteriovenous malformation

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


Isaac syndrome

description: 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

description: Underdevelopment of frontal sinus.


Hepatic periportal necrosis

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


name: Complete duplication of the 1st metatarsal

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


name: Stippling of the epiphyses of the 3rd toe

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


Placidity

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


name: Elevated circulating dihydrouracil concentration

description: 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.


name: Partial diaphragmatic absence of pericardium

description: 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

description: Any structural abnormality of a jugular vein.


Dimple chin

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


name: Abnormality of the spinocerebellar tracts

description: 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

description: 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.


name: Abnormal response to gonadotropin-releasing hormone stimulation test

description: 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).


description: 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

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


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


Anasarca

description: 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

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


Decreased proportion of naive T cells

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


Bartholin cyst

description: A fluid-filled sac near the vaginal opening. A Bartholin cyst is usually unilateral, asymptomatic blockage of the Bartholin gland, which may lead to a painless swelling.


name: Anti-voltage-gated potassium channel antibody positivity

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


Abnormal auditory canal morphology

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


Bracket epiphysis of the 1st metatarsal

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


Fractured distal tarsal bone 2

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


Abnormal number of hair whorls

description: More than two clockwise hair whorls.


Triangular epiphyses of the 4th finger

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


Gastrocnemius contracture

description: Limitation of simultaneous ankle dorsiflexion and knee extension during mid-stance of gait.


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


Bilateral triphalangeal thumbs

description: A bilateral form of triphalangeal thumb.


Short esophagus

description: Abnormal reduction in the length of the esophagus.


Abnormal interest in others

description: 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

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


Aplasia/Hypoplasia of facial bones

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


Distal aortic arch hypoplasia

description: 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.


name: Focal impaired awareness sensory seizure with vestibular features

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


name: Weakness due to upper motor neuron dysfunction

description: 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.


name: Renal juxtaglomerular cell hypertrophy/hyperplasia

description: Increased number and size of the juxtaglomerular cells.


name: Proximal humeral metaphyseal irregularity

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


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

description: 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

description: An abnormality of the development of the fingernails.


Bowed forearm bones

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


Increased CSF glutamate concentration

description: Abnormally increased levels of glutamic acid in cerebrospinal fluid.


Horseshoe lung

description: 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

description: 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

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


name: Focal cognitive seizure with dyslexia/alexia

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


Midshaft hypospadias

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


Abnormal oligodendroglia morphology

description: 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

description: Developmental hypoplasia of the distal phalanx of third toe.


Bilateral apical pulmonary fibrosis

description: 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

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


name: Increased urinary non-proteinogenic amino acid level

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


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

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


Fractured acetabular part of hip bone

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


otitis media, susceptibility to

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


Abnormal vertebral morphology

description: An abnormality of one or more of the vertebrae.


Prolonged P wave

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


Myoclonic status epilepticus with coma

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


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


Anti-LAD-1 antibody positivity

description: 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

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


Posttussive emesis

description: Vomiting following a coughing spell.


Curved middle phalanx of the 4th toe

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


ariboflavinosis

description: 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

description: 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

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


Abnormal liver lobulation

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


Decreased QRS voltage

description: 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.


name: Abnormal circulating cytokine concentration

description: 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

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


name: Increased proportion of unswitched memory B cells

description: 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

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


Hyperglutaminuria

description: An increased concentration of glutamine in the urine.


histiocytoid cardiomyopathy

description: 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

description: 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

description: 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.


Finger pain

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


1-4 toe syndactyly

description: Syndactyly with fusion of toes one to four.


name: transient hypogammaglobulinemia of infancy

description: 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

description: Hypersensitivity in form of an adverse immune reaction against dairy.


Intracranial dermoid cyst

description: 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

description: A bending or abnormal curvature of a long bone.


Absent toe

description: 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

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


Abnormal drug response

description: 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

description: Changes in alignment of teeth in the dental arch


Paroxysmal dyskinesia

description: 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

description: Underdevelopment of muscles of the arm.


Short 5th metacarpal

description: Short fifth metacarpal bone.


Central nervous system axonal spheroid

description: 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

description: 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

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


Impaired toe-walking ability

description: 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.


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


Gordon reflex

description: 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).


Thickened aortic valve cusp

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


Adenomatous colonic polyposis

description: Presence of multiple adenomatous polyps in the colon.


name: Ivory epiphysis of the distal phalanx of the 3rd finger

description: 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.


name: Osteolytic defects of the proximal phalanx of the 5th toe


Generalized aminoaciduria

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


name: Abnormal urine isobutyrylglycine concentration

description: Abnormal concentration of isobutyrylglycine in the urine.


Anti-Th/To antibody positivity

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


Enlarged cerebellum

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


Hypoplastic hippocampus

description: Underdevelopment of the hippocampus.


name: Decreased circulating UDP glucose-4-epimerase concentration

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


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

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


Excessively loud speech

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


Vasculitis by anatomical site

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


Focal behavior arrest seizure

description: 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.


Severe hearing impairment

description: A severe form of hearing impairment.


Impaired ability to organize

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


name: Calcification of the interosseus membrane of the forearm

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


Bullet-shaped 1st metacarpal

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


Otitis media with effusion

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


Folie à deux

description: Delusional beliefs are transmitted from one individual to another.


Abdominal cramps

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


Diffuse subcortical band heterotopia

description: 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

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


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

description: 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

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


Panhypogammaglobulinemia

description: 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.


name: Sclerosis of the proximal phalanx of the thumb

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


Aplasia of the ulna

description: Missing ulna bone associated with congenital failure of development.


EEG with constitutional variants

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


rhombencephalosynapsis

description: 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

description: Pain or discomfort produced by touching the nipple.


name: Macrodontia of permanent maxillary central incisor

description: Increased size of the maxillary central secondary incisor tooth.


name: Increased circulating free fatty acid level

description: 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

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


Left ventricular aneurysm

description: 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.


name: Abnormal peripheral nerve morphology by anatomical site

description: Abnormal morphology of a specific peripheral nerve


cystathioninuria

description: 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.


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

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


name: Cone-shaped epiphysis of the 1st metatarsal

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


Decreased CSF creatinine concentration

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


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


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

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


name: Arcuate vein intimal/medial myxomatous degeneration

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


Abnormal left ventricle morphology

description: Any structural abnormality of the left ventricle of the heart.


Abnormal CSF amino acid concentration

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


Hypoplastic male external genitalia

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


name: Neonatal electro-clinical seizure with behavior arrest

description: 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

description: Any anomaly of a subclavian artery.


Short 5th toe

description: Underdevelopment (hypoplasia) of the fifth toe.


name: Decreased circulating prealbumin concentration

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

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


Broad 5th toe

description: A broad appearance of the fifth toe.


macroglossia

description: 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)


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


name: Aplasia/Hypoplasia of the phalanges of the 2nd toe


Quadriceps muscle weakness

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


name: Elevated circulating dodecanoylcarnitine concentration

description: Concentration of dodecanoylcarnitine (C12:0) in the blood circulation above the upper limit of normal.


Sclerosis of distal toe phalanx

description: 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

description: 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

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


name: Abnormal circulating sarcosine concentration

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


Decreased retinol-binding protein level

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


Cubitus valgus

description: Abnormal positioning in which the elbows are turned out.


Xanthine nephrolithiasis

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


name: Diffuse reticular or finely nodular infiltrations


proximal renal tubular acidosis

description: 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

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


Methioninuria

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


Conical primary incisor

description: An abnormal conical morphology of the primary incisor.


Alien limb phenomenon

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


Typical atrial flutter

description: Typical atrial flutter is an organized 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

description: Any anomaly of cell structure.


autonomic nervous system neoplasm

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


name: Abnormal periventricular white matter morphology

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


Chronic decreased circulating IgD

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


trimethylaminuria

description: 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

description: 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.


name: Abnormal ossification of the trapezoid bone


Thick pachygyria

description: 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

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


Hydroxylysinemia

description: 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.


Cerebral subcortical cyst

description: A fluid-filled sac (cyst) in the region below the cortex of the cerebrum. In magnetic resonance imaging, the fluid within the cyst has the same appearance as cerebrospinal fluid (CSF).


Anti-CARP VIII antibody

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


Excessive bleeding after a venipuncture

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


Underdeveloped stem of antihelix

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


Diaphyseal cortical sclerosis

description: 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

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


Bullet-shaped 5th toe phalanx

description: 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

description: An abnormality of the tonsils.


Digital ulcer

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


Short distal phalanx of the 3rd finger

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


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


Lower-limb metaphyseal irregularity

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


Increased CSF isoleucine concentration

description: Abnormally increased levels of isoleucine in cerebrospinal fluid.


Abnormal esophagus morphology

description: A structural abnormality of the esophagus.


Mammary duct ectasia

description: A non-proliferative inflammatory disorder of the large duct (milk duct) of the breast; as such, it affects nipple and areola complex. The condition is characterized by focal dilatation of the lactiferous duct system is due to endoluminal changes, as well as the loss of duct wall elastin, leading to abnormally dilated and tortuous lactiferous ducts with associated periductal inflammation and fibrosis. Mammary duct ectasia may present with nipple discharge or palpable mass.


name: Fragmentation of the epiphyses of the 5th toe


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


name: Facial telangiectasia in butterfly midface distribution

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


Peripheral axonal atrophy

description: Atrophic changes of axons of the peripheral nervous system.


Hypoplasia of deltoid muscle

description: Underdevelopment of the deltoid muscle.


name: Premature fusion of the radial epiphyseal plates

description: 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

description: 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

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


name: Tapering pointed ends of distal finger phalanges

description: 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

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


name: Focal aware perseverative automatism seizure

description: 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.


name: Cone-shaped epiphyses of the phalanges of the hand

description: 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

description: Abnormal fat accumulation in the kidneys.


Pruritis on hand

description: 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

description: 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.


name: Abnormal ulnar styloid process morphology


Abnormal renal tubular resorption

description: An abnormality of renal absorption.


kidney sarcoma

description: A sarcoma involving a kidney.


name: Focal impaired awareness cognitive seizure with dyslexia/alexia

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


P wave inversion

description: 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

description: Abnormally increased thickness of the nasal septum.


name: Abnormal response to endocrine stimulation test

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


name: Aplasia/Hypoplasia of the phalanges of the toes


name: Abnormal connection of the cardiac segments

description: A deviance in the normal connections between two cardiac segements.


Food allergy

description: 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

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


male reproductive system neoplasm

description: 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

description: A partial or complete breakage of the epiphysis of femur.


Abnormal plasma cell count

description: 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

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


Intracranial cystic lesion

description: A cystic lesion originating within the brain.


renal hypoplasia

description: 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.


name: atrial septal defect, sinus venosus type

description: 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

description: 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.


name: isolated congenital growth hormone deficiency

description: Insufficient production of growth hormone.


Abnormal choanae morphology

description: Abnormality of the choanae (the posterior nasal apertures).


Abnormality of the frontal hairline

description: 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

description: 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

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


name: Glomerular basement membrane lamellation

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


Abnormal renal tubular lumen morphology

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


Right atrial isomerism

description: 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.


Prominent U wave

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


name: Absent dorsal skin creases over affected joints


tympanic paraganglioma

description: 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

description: 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

description: 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

description: Bowing (abnormal curvature) of the vocal folds.


name: Sclerosis with transverse striations in metaphyses of the upper limbs


Chilblains

description: 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

description: 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

description: 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

description: 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

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


Hemimacroglossia

description: Increased length and width of one half of the tounge.


pili torti

description: 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

description: 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

description: Diminished sexual desire in female.


Rudimentary fibula

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


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


Architectural distortion of the lung

description: 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

description: A decreased amount of asparagine in the blood.


name: Abnormal circulating prostaglandin circulation

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


Abnormality of the genital system

description: An abnormality of the genital system.


Substantia nigra gliosis

description: Focal proliferation of glial cells in the substantia nigra.


Abnormal alveolar macrophage morphology

description: 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

description: 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

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


Airway hyperresponsiveness

description: 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.


name: Elevated circulating tiglylglycine concentration

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


Decreased platelet P2Y12 receptor

description: Decreased cell membrane concentration of P2Y12 receptor.


name: Elevated circulating S-sulfocysteine concentration

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


Leucine crystalluria

description: The presence of leucine crystals in the urine.


Abnormal peer relationships

description: 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.


name: Sclerotic foci of metaphyses of the elbow


Lower-limb joint contracture

description: 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

description: 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.


name: Apneic episodes precipitated by illness, fatigue, stress

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


name: Abnormal circulating selenium concentration

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


Mesomelic short stature

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


Cubitus varus

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


name: Underdeveloped inferior crus of antihelix

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


Shoulder subluxation

description: A partial dislocation of the shoulder joint.


Posterior subluxation of radial head

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


Abnormality of the periungual region

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


Widely spaced teeth

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


Abnormal fetal morphology

description: Any structural anomaly of the fetus.


name: Elevated circulating C16 acylcarnitine concentration

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


name: Irregular epiphysis of the proximal phalanx of the 4th toe


Malabsorption

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


name: Increased immunoglobulin level in body fluid

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


Fractured tarsal bone

description: A partial or complete breakage of the tarsal bone.


Positive ferric chloride test

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


Incomplete bilateral cleft lip

description: 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.


name: Reduced TSH response to thyrotrophin-releasing hormone stimulation test

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


Crouzon syndrome

description: Crouzon disease is characterized by craniosynostosis and facial hypoplasia.


Palate fistula

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


Gangliocytoma

description: 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

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


Autonomic status epilepticus

description: 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

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


Progressive leukoencephalopathy

description: Leukoencephalopathy that gets more severe with time.


Spastic hemiparetic gait

description: 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.


name: Abnormality of the third metatarsal bone

description: An abnormality of the third metatarsal bone.


Coated aorta

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


Increased peripheral myelin thickness

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


name: Ivory epiphysis of the middle phalanx of the 4th toe


name: Prolonged bleeding after dental extraction

description: Prolonged bleeding post dental extraction sufficient to require medical intervention.


Increased CSF serine concentration

description: Abnormally increased levels of serine in cerebrospinal fluid.


name: Increased circulating 17 hydroxypregnenolone concentration

description: 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

description: An abnormal flattening of the proximal epiphysis of the femur.


Lower limb asymmetry

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


Suprabasal cleavage

description: 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

description: 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

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


name: Partial duplication of the proximal phalanx of the 2nd finger

description: Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


Pilonidal abscess

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


ear exostoses

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


Pancreatic lymphangiectasis

description: The presence of lymphangiectasis in the pancreas.


name: Elevated circulating cholestanol concentration

description: The concentration of cholestanol in the blood circulation is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol.


name: Reduced epidermal collagen XVII protein expression


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

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


name: Elevated circulating phytanic acid concentration

description: An abnormal elevation of phytanic acid.


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


Chronic lactic acidosis

description: A chronic form of lactic acidemia.


Atypical sorting

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


name: Abnormal greater palatine artery morphology

description: An abnormality of a greater palatine artery.


nevus anemicus

description: A capillary vascular anomaly that is characterized by hypopigmented macules.


Restrictive ventricular septal defect

description: 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

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


name: Decreased thyroid-stimulating hormone level

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


name: Abnormal circulating acylcarnitine concentration

description: 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.


name: Pseudoepiphyses of the phalanges of the hand

description: 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.


name: Renal interstitial neutrophil infiltration

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


Aplasia/Hypoplasia of the 4th finger

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


Frontal upsweep of hair

description: Upward and/or sideward growth of anterior hair.


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

description: 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.


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


epidermoid cysts

description: 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.


name: Venous varicosities of celiac and mesenteric vessels

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


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


Renal tubular epithelial cell mitosis

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


Palmar hyperlinearity

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


Slender toe

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


name: Complete heart block with broad QRS complexes

description: 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

description: A structural abnormality of the pons.


name: Abnormal circulating glutamine family amino acid concentration

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


Abnormal bronchus physiology

description: Any anomaly of the function of the bronchi.


Subungual fibromas

description: The presence of fibromata beneath finger or toenails.


Small epiphyses of the 3rd finger

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


Hypochondriac delusion

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


Cerebral cortical hemiatrophy

description: 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

description: Slowing in occipital areas of the scalp EEG.


Focal emotional seizure with crying

description: 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

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


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

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


name: Osteolytic defects of the proximal phalanx of the 3rd toe


Limitation of joint mobility

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


Wide capital femoral epiphyses

description: Abnormally wide morphology of the proximal epiphysis of the femur.


visceral heterotaxy

description: 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.


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

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


Reduced isohemagglutinin level

description: 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

description: An acute form of rhabdomyolysis.


name: Swelling of proximal interphalangeal joints


Hypoglycinemia

description: An abnormally reduced concentration of glycine in the blood.


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


Triceps areflexia

description: Inability to elicit triceps tendon reflex.


name: Abnormality of the epiphysis of the proximal phalanx of the thumb

description: 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.


name: Partial duplication of phalanx of the 2nd toe

description: Partial duplication of a phalanx of second toe.


name: Bullet-shaped middle phalanx of the 4th finger

description: 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.


name: Single ventricle of indeterminate morphology


name: Decreased circulating heparan sulfate level

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


pituitary gland disorder

description: A disease involving the pituitary gland.


Increased urinary cysteine level

description: An increased concentration of cysteine in the urine.


Brainstem dysplasia

description: 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.


name: Perivascular pre-capillary pulmonary artery inflammation

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


cold urticaria

description: 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

description: 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

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


Abnormal serum estradiol

description: A deviation from normal concentrations of estradiol in the circulation.


Increased CSF xylitol concentration

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


Oligoclonal T cell expansion

description: 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

description: 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

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


name: Irregular ossification of the humeral epiphyses


name: Decreased serum testosterone concentration


Elevated plasma pyrophosphate

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


name: Decreased level of platelet-activating factor


4-5 toe cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the toes 4 and 5.


name: Elevated urinary 2-hydroxyisocaproic acid level

description: The amount of 2-hydroxyisocaproic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Excessive cerumen

description: An increased quantity of earwax.


Patchy sclerosis of hallux phalanx

description: 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

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


EEG with central focal spike waves

description: 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

description: Progressively reduced or lacking hair growth.


Metatarsus adductus

description: 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

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


Pituitary microadenoma

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


sarcosinemia

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


Silent hypoxemia

description: Abnormally low blood oxygen level without the presence of dyspnea.


Tarsal sclerosis

description: 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.


name: Elevated circulating amyloid A concentration

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


Abnormality of the genitourinary system

description: The presence of any abnormality of the genitourinary system.


Cochlear nerve hypoplasia

description: A developmental defect characterized by underdevelopment of the cochlear nerve.


name: Inability to walk by childhood/adolescence


Positive infectious agent test

description: Any kind of test for an infectious agent in a specimen positive.


Scapulohumeral synostosis

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


Post-capillary pulmonary hypertension

description: Post-capillary pulmonary hypertension is a hemodynamic condition characterized 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

description: Underdevelopment of the biceps muscle.


jugulotympanic paraganglioma

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


Cutaneous syndactyly

description: 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

description: Arteriosclerosis occurring at an age that is younger than usual.


Duplicated collecting system

description: 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.


Rokitansky-Aschoff gallbladder sinuses

description: Localized or diffuse epithelial proliferation with hypertrophy of the muscularis layer and invagination of the mucosa through the muscularis, forming intramural diverticula (i.e., small, bulging pouches in the wall of the gallbladder).


Decreased serum creatinine

description: An abnormally reduced amount of creatinine in the blood.


Decreased number of sweat glands

description: The presence of fewer than normal sweat glands.


Crossed fused renal ectopia

description: 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

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


Premature thelarche

description: Premature development of the breasts.


name: Perivascular myocardial immune cell infiltration

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


Renal corticomedullary cysts

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


Abnormal CSF albumin concentration

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


cortical deafness

description: An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.


name: Aplasia/Hypoplasia of the 3rd metacarpal

description: Aplasia or Hypoplasia affecting the 3rd metacarpal.


Monoclonal elevation of IgG kappa chain

description: 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

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


name: Focal impaired awareness bilateral motor seizure

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


Ectopic anus

description: Abnormal displacement or malposition of the anus.


Slender metacarpals

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


Disproportionate short stature

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


name: Focal impaired awareness hemifacial clonic seizure

description: 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.


name: Elevated circulating aconitic acid concentration

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


Increased circulating IgG subclass

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


name: Anti-mitochondrial M2 antibody positivity

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


Focal cognitive seizure with illusion

description: 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

description: Absence or underdevelopment of the testes.


Addictive amphetamine use

description: Addiction to amphetamine or dextroamphetamine is a serious concern.


amastia

description: Absence of one or both mammary glands.


detrusor sphincter dyssynergia

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


Abnormality of the posterior hairline

description: An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.


Hepatic artery hyperplasia

description: Abnormal increase in size of the hepatic arteries.


Cross bite

description: Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth.


Fibrotic muscularis propria

description: The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process.


name: Severely reduced left ventricular ejection fraction

description: A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.


Abnormal hand epiphysis morphology

description: Any abnormality of the epiphyses of the phalanges or metacarpal bones.


Dumbbell-shaped long bone

description: An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.


Increased helper T cell proportion

description: Increased proportion of helper T cells relative to the total number of T cells.


Palmoplantar cutis gyrata

description: Cutis gyrata of palms and soles.


Poikiloderma

description: Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.


name: Fragmentation of the epiphysis of the proximal phalanx of the hallux


name: Abnormal morphology of left ventricular trabeculae

description: Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).


name: Self-mutilation of tongue and lips due to involuntary movements

description: Uncontrolled movements result in tissue damage to the tongue and lips.


name: Impaired ability to form peer relationships

description: Difficulty to establish relations with others in a comparable social group (peers) that may be manifested in pehnomena such as not being able to initiative a conversation, undersand social cues, or to discuss shared interests. This feature is associated with poor integration within a community or group.


Abnormal fetal heart outflow tract

description: A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited.


Posterior pituitary hypoplasia

description: Underdevelopment of the neurohypophysis.


Abnormal P wave

description: Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.


name: Osteolytic defects of the middle phalanges of the hand


Delayed ability to walk with support

description: A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage.


Multifocal seizures

description: Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).


Dermal microfilaria

description: Presence of filariae in the skin.


Aortic tortuosity

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


name: Sclerosis of the distal phalanx of the 2nd toe


urethra neoplasm

description: A neoplasm (disease) that involves the urethra.


coronary microvascular disorder

description: A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom.


Unusual skin infection

description: A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.


T-wave alternans

description: A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.


Neurodevelopmental abnormality

description: A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.


Mesangial hyaline deposition

description: Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material.


athetoid cerebral palsy

description: A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating.


Fibrin casts

description: A type of airway casts that consist of plasma components and inflammatory cells.


name: Abnormal circulating coenzyme concentration

description: Concentration of a coenzyme (an organic molecule that binds to the active sites of an enzyme to promote the catalysis of a reaction) is above or below the limits of normal.


Abnormal blood phosphate concentration

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


sacrococcygeal teratoma

description: A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.


Increased incisura length

description: The length of the incisura from the upper to lower border is greater than that observed in the average population.


Aggression towards caregivers

description: Aggression that is directed towards caregivers.


name: Abnormal morphology of the proximal phalanx of the hallux

description: An abnormal shape or form of the proximal phalanx of the big toe.


Hyperphosphaturia

description: An increased excretion of phosphates in the urine.


Abnormal jaw morphology

description: A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.


Extrapulmonary lobar sequestration

description: A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree.


Esophageal fibrosis

description: Fibrosis located in the subepithelial portion of the esophagus. Fibrosisis is defined by the overgrowth, hardening, and/or scarring of various tissues and is attributed to excess deposition of extracellular matrix components including collagen.


name: Elevated circulating Angiotensin-converting enzyme concentration

description: Concentration of angiotensin-converting enzyme (ACE) in the blood circulation above the upper limit of normal.


Elevated urinary beta-alanine level

description: The amount of beta alanine in the urine, when normalized for urine concentration, is above the upper limit of normal.


Global systolic dysfunction

description: A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly.


juvenile myelomonocytic leukemia

description: A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)


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


Generalized atonic seizure

description: Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature.


Spinal hemangioblastoma

description: A hemangioblastoma of the spinal cord.


name: Anti-epidermal transglutaminase antibody positivity

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


Onychogryposis of fingernail

description: Thickened fingernails.


Anti-U11/U12 RNP antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP.


Monoclonal elevation of intact IgG

description: A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain.


name: Abnormal enzyme concentration or activity

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


tracheal stenosis

description: Narrowing of the lumen of the trachea.


Dilatation of an abdominal artery

description: Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta.


Hoffmann sign

description: A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.


Maternal first trimester fever

description: The occurence of fever in a mother during the first trimester of pregnancy.


Orotic acid crystalluria

description: Formation of crystals owing to an increased concentration of orotic acid in the urine.


EEG with frontal focal spikes

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