Klippel-Feil syndrome

description: A congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.Other features may involve various other body parts or systems. Sometimes, KFS occurs as a feature of another disorder or syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these cases, people have the features of both KFS and the additional disorder. KFS may be caused by mutations in the GDF6 or GDF3 gene and inherited in an autosomal dominant manner; or, it may be caused by mutations in the MEOX1 gene and inherited in an autosomal recessive manner. Treatment is symptomatic and may include medications, surgery, and/or physical therapy.


Progressive cerebellar ataxia

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


name: Amplification of emotional responsiveness

description: An increase in the tendency of a person to display emotional responsiveness or emotional empathy towards others during interpersonal interactions as compared to that person's previous norm.


Abnormal platelet granule secretion

description: Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion.


Postaxial polysyndactyly of foot

description: Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe).


Abnormal metaphysis morphology

description: An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.


Pruritus on foot

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 foot.


Inferior mediastinal mass

description: A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).


Microsleep

description: Sudden onset of extreme drowsiness or falling asleep during the day for a short period of time.


name: Regional left ventricular wall motion abnormality

description: An abnormal motion of a segment of the left ventricle during the cardiac cycle.


Tube feeding

description: Feeding problem necessitating food and nutrient delivery via a tube.


Morbus Koehler

description: Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.


name: Abnormal amyloid beta 42 peptide CSF concentration

description: Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form.


name: Anti-liver cytosolic antigen type 1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.


name: Decreased proportion of CD8-positive T cells

description: A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.


Eyelid myoclonus

description: Marked, involuntary jerking of the eyelids.


Limited ankle dorsiflexion

description: Reduced ability to move the foot up toward the shin.


Abnormal CSF arginine concentration

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


name: Fractured distal phalanx of manual digit 5

description: A partial or complete breakage of the distal phalanx of manual digit 5.


piebaldism

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

description: Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes.


Anti-mGluR1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1).


Digestive system neoplasm

description: A tumor (abnormal growth of tissue) of the digestive system.


name: Elevated bronchoalveolar lavage fluid lymphocyte proportion

description: Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.


Abnormal urine cytology

description: An anomalous finding in the examination of the urine for cells.


name: Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio

description: A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation.


name: Substantia nigra hypointensity on susceptibility-weighted imaging

description: Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI).


Hand muscle atrophy

description: Muscular atrophy involving the muscles of the hand.


Amniotic Sheet

description: A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion.


Pituitary thyrotropic cell adenoma

description: A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).


name: Focal impaired awareness autonomic seizure

description: A focal autonomic seizure characterized by impaired awareness at some point within the seizure.


Fractured middle phalanx of pes

description: A partial or complete breakage of the middle phalanx of pes.


name: Focal aware cognitive seizure with expressive dysphasia/aphasia

description: A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure.


Splayed superior cerebellar peduncle

description: Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.


Jejunitis

description: Inflammation of the lining of the middle section of the small intestine.


Elevated urinary 7-biopterin level

description: An abnormally increased amount of 7-biopterin in the urine.


name: Abnormality of umbilical vein blood flow

description: A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.


Curved middle phalanx of the 4th finger

description: Curved appearance of the middle phalanx of the 4th (ring) finger.


Cementoma

description: An odontogenic tumor of the cementum of tooth.


name: Neonatal electro-clinical non-motor seizure


Ivory epiphyses of the 3rd finger

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


Stenosis of the external auditory canal

description: An abnormal narrowing of the external auditory canal.


name: EEG with hyperventilation-induced generalized epileptiform discharges

description: Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Tooth malposition

description: Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.


Morbus Kienboeck

description: Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.


Dislocated wrist

description: An injury of the wrist with displacement of any of the eight carpal bones.


name: Decreased proportion of immature B cells

description: A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).


Imperforate tricuspid valve

description: A tricuspid valve that has failed to open.


Heparan sulfate excretion in urine

description: An increased concentration of heparan sulfates in the urine.


name: Mild malformation of cortical development

description: A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter.


Fatigable weakness of speech muscles

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


name: Impaired ristocetin cofactor assay activity

description: Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.


Abnormal Schwann cell morphology

description: Abnormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function.


Palmoplantar blistering

description: A type of blistering that affects the skin of the palms of the hands and the soles of the feet.


Hyporeflexia of lower limbs

description: Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.


Recurrent pyelonephritis

description: Repeated episodes of pyelonephritis.


name: Elevated tissue non-specific alkaline phosphatase

description: An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.


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

description: An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


Isolated diastolic hypotension

description: A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg).


name: Increased proportion autoreactive unresponsive CD21-/low B cells

description: Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures.


Elevated urinary uridine level

description: Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond.


Flared upper limb metaphysis

description: The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.


Abnormal vagina morphology

description: Any structural abnormality of the vagina.


Multiple palmar creases

description: The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease).


Hypoplastic colon

description: Underdevelopment of the colon.


name: Abnormal gastrointestinal vascular morphology


right atrial isomerism

description: A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12.


Anti-HLA-A antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A).


Empty ovarian follicle

description: A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.


name: Abnormal glucose-6-phosphate dehydrogenase level in tissue

description: An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue.


name: Atrophy/Degeneration involving the spinal cord


Abnormal permanent molar morphology

description: An abnormality of morphology of permanent molar.


name: Abnormal platelet membrane protein expression

description: Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.


Tracheobronchmegaly

description: Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection.


name: Absent in utero ossification of vertebral bodies


Late inspiratory crackles

description: Crackles that appear any time after the beginning of inspiration and last till the end of inspiration.


name: Aplasia of the middle phalanges of the toes


Abnormal metatarsal morphology

description: Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).


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


Deep S wave in lead V5

description: Abnormal depth of the S wave in lead V5 of the electrocardiogram.


Curvilinear pericallosal lipoma

description: A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum.


Abnormal urine sodium concentration

description: An abnormal concentration of sodium in the urine.


Non-epileptic seizure

description: Psychogenic non-epileptic seizures (PNES) are not abnormal perceptions or abnormal beliefs/judgments, nor are they epileptic attacks. They are behaviors that simulate epileptic attacks, not fully consciously.


Hypoplasia of the fallopian tube

description: Developmental hypoplasia of the fallopian tube.


Anti-factor XI antibody positivity

description: The presence of an antibody in the blood circulation that is directed against factor XI.


Abnormal number of vertebrae

description: A deviation from the normal number of vertebrae in the spinal column.


maligant granulosa cell tumor of ovary

description: An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites.


Coarsened hepatic echotexture

description: The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography.


name: Triangular epiphysis of the proximal phalanx of the thumb

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


Abnormal metabolic brain imaging by MRS

description: An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).


name: Osteolytic defects of the distal phalanx of the 2nd toe


central neurocytoma

description: Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good.


name: Bullet-shaped phalanges of the 2nd finger

description: A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


name: Elevated circulating sitosterol concentration

description: An increased concentration of beta-sitosterol in the blood circulation.


Bone 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 a bone.


Molar incisor malformation

description: Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars.


name: Absence of CD4-positive, CD25-positive regulatory T cells

description: Lack of CD4+CD25+ T regulatory cells.


Aplasia/Hypoplasia of the pubic bone

description: Absence or underdevelopment of the pubic bone.


name: Triangular shaped proximal phalanx of the 4th finger

description: Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


name: Elevated circulating ghrelin concentration

description: The concentration of ghrelin in the blood circulation is above the upper limit of normal. Ghrelin is a 28-amino-acid peptide predominantly secreted in the stomach and stimulates appetite and growth hormone (GH) release.


name: Abnormal tricuspid valve annulus morphology

description: Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.


Penile corporal blood gas ischemia

description: Partial pressure of oxygen (pO2) in cavernous blood of the penis is below the lower limit of normal.


basal encephalocele

description: Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares.


Intrascapular pain

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


Anti-desmoglein-1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule.


Alkaline urine

description: Urine pH of 8 or higher.


Anterior tibial bowing

description: An abnormal anterior bending or curvature of the tibia.


name: Bullet-shaped distal phalanx of the hallux

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


name: Decreased specific antibody response to protein-conjugated polysaccharide vaccine

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


Abnormal digit morphology

description: A morphological abnormality of a digit, i.e., of a finger or toe.


name: Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration

description: A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature.


name: Increased groin pigmentation with raindrop depigmentation


Fractured knee

description: A partial or complete breakage of the knee.


name: Impaired renal tubular reabsorption of sodium

description: Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption.


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

description: An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


aneurysm of sinus of Valsalva

description: Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.


Increased circulating trypsinogen

description: An abnormally high concentration of trypsinogen in the blood circulation.


name: Fractured middle phalanx of manual digit 5

description: A partial or complete breakage of the middle phalanx of manual digit 5.


Medullary peritubular capillaritis

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


Tongue atrophy

description: Wasting of the tongue.


Hypothreoninemia

description: A decreased amount of threonine in the blood.


name: Renal interstitial eosinophil infiltration

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


Egg allergy

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


name: Decreased circulating copper concentration

description: A reduced concentration of copper in the blood.


muscular dystrophy

description: Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities.


name: Osteolytic defect of the distal phalanx of the thumb

description: Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.


Perifollicular fibroma

description: Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.


name: Total absence von Willebrand factor multimers

description: Complete absence of all von Willebrand factor multimers.


description: Increased proportion of immature gamma-delta T cells relative to the total number of T cells.


Increased incisura width

description: Breadth of the incisura from the anterior to posterior border greater than that observed in the average population.


Neoplasm of the outer ear

description: A tumor (abnormal growth of tissue) of the outer ear.


name: Abnormalities of placenta or umbilical cord

description: An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).


name: Arcuate vein medial/intimal coagulative necrosis

description: A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


Arcuate artery intima/media necrosis

description: Death of tissue in the inner or middle layer of the arcuate artery of the kidney.


Generalized-onset motor seizure

description: A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


Elevated urine hyaluronic acid level

description: Excessive amount of hyaluronic acid in urine.


name: Absent epiphysis of the proximal phalanx of the 3rd toe


name: Pachygyria with 5-10 mm cortical thickness

description: Pachygyria with a mildly thickened cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.


thyroglossal duct cyst

description: A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck.


Intratubular hemoglobin casts

description: A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A.


name: Anomalous muscle bundle of the right ventricle

description: An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.


Increased CSF arginine concentration

description: Abnormally increased levels of arginine in cerebrospinal fluid.


Pure ground-glass pulmonary nodule

description: Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed.


Abnormal arcuate vein morphology

description: Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla).


Bronchial breath sound

description: Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy.


Peg-shaped maxillary lateral incisors

description: A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter


Abnormal pulmonary fissure count

description: A deviation from the normal number of pulmonary fissures.


description: Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells.


name: Elevated CSF alpha-crystallin B chain concentration

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


Renal interstitial edema

description: Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density.


Abnormality of thumb epiphysis

description: Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.


name: Thyroid defect in oxidation and organification of iodide


Multiple small medullary renal cysts

description: The presence of many cysts in the medulla of the kidney.


osteochondrodysplasia

description: A term referring to disorders characterized by abnormalities in the development of bones and cartilage.


Elevated urinary guanosine level

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


idiopathic camptocormia

description: Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology.


name: Renal arteriolar lumen cholesterol emboli

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


propionic acidemia

description: Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.


Sparse scalp hair

description: Decreased number of hairs per unit area of skin of the scalp.


name: Decreased proportion of CD8-positive, alpha-beta TEMRA T cells

description: An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.


EMG: myopathic abnormalities

description: The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.


name: Focal impaired awareness motor seizure with dystonia

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


name: Abnormal circulating dehydroepiandrosterone concentration

description: A deviation from the normal concentration of dehydroepiandrosterone in the circulation.


Impaired continence

description: Partial or total incontinence of bowel or bladder.


Fluctuations in consciousness

description: Changes in one's level of awareness and responsiveness to their environment.


spastic diplegia

description: A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy.


Myocardial multinucleated giant cells

description: The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.


Supernumerary cusp

description: Additional cusps of a dental crown.


Agenesis of canine

description: Agenesis of canine tooth.


Curved 3rd toe phalanx

description: A deviation from the normal straight form of one or more phalanges of the third toe.


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


name: Fragmentation of the epiphyses of the 2nd toe


Posterior plagiocephaly

description: Asymmetry of the posterior part of the skull.


Attached earlobe

description: Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.


name: Extracranial internal carotid artery dissection

description: A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.


Vaginal myxoma

description: A myxoma (tumor of primitive connective tissue) localized in the vagina.


name: Bullet-shaped middle phalanx of the 3rd toe

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


name: Neonatal electro-clinical autonomic seizure

description: Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea.


Abnormal meiosis

description: Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.


Nasal secretion eosinophilia

description: Count of eosinophils in nasal secretions (for instance, nasal discharge) above the upper limit of normal.


name: Aplasia/hypoplasia of the uterine cervix

description: Congenital absence or underdevelopment of the uterine cervix.


Increased circulating IgM level

description: An abnormally increased level of immunoglobulin M in blood.


Palmar telangiectasia

description: The presence of telangiectases on the skin of palm of hand.


Mild expressive language delay

description: A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.


Myotonia of the face

description: Slowed relaxation of muscles in the face.


name: Triangular epiphyses of the middle phalanges of the hand


Slender proximal phalanx of finger

description: Reduced diameter of the proximal phalanx of finger.


name: Abnormal morphology of the cortex of the humerus

description: Any abnormality affecting the cortex of the humerus.


name: Anti-SUMO-activating enzyme subunit 1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1.


Frey syndrome

description: An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5)


Altman type II sacrococcygeal teratoma

description: A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.


Generalized amyotrophy

description: Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.


name: Abnormal metacarpophalangeal joint morphology

description: An anomaly of a metacarpophalangeal joint.


amniotic band syndrome

description: A group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies.


Abnormality of spinal facet joint

description: An anomaly of the small joints located between and behind adjacent vertebrae.


polyp of ureter

description: A polyp that involves the ureter.


Anti-H2B antibody positivity

description: The presence of autoantibodies in the blood circulation that react against histone H2B.


Choking episodes

description: Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.


Axillary freckling

description: The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.


Abnormal iliac wing morphology

description: An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.


Achilles tendon contracture

description: A contracture of the Achilles tendon.


name: Symphalangism affecting the phalanges of the hand

description: Fusion of two or more phalangeal bones of the hand.


Thymus hyperplasia

description: Enlargement of the thymus.


name: Fragmentation of the epiphyses of the 5th finger

description: Fragmented appearance of the epiphyses of the 5th finger.


Reduced factor XIII activity

description: Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.


Hyperplasia of the premaxilla

description: An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures.


Broad foot

description: A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.


Violet lip discoloration

description: An alteration of the color of the lip to take on a violet color. This term does not include cyanosis.


Naevus flammeus of the eyelid

description: Naevus flammeus localized in the skin of the eyelid.


name: Elevated circulating apolipoprotein A-II concentration

description: An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism.


Curved proximal phalanx of the thumb

description: A deviation from the normal straight shape of the proximal phalanx of the thumb.


name: Arcuate artery intima/media liquefactive necrosis

description: A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


Dilatation of the ductus arteriosus

description: Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end.


name: Elevated circulating apolipoprotein E concentration

description: Concentration of apolipoprotein E above the upper limit of normal.


name: Osteolytic defects of the phalanges of the 5th finger

description: Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.


neoplasm of middle ear

description: A neoplasm (disease) that involves the middle ear.


Reduced maximal inspiratory pressure

description: A decrease in the maximum amount of negative pressure a person can generate during an inhalation.


pleural empyema

description: The presence of pus in the thoracic cavity, between the visceral and parietal pleura.


Violent behavior

description: Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity.


Early chronotype

description: A tendency towards rising very early in the morning and going to bed early in the evening.


Gallbladder perforation

description: Rupture of the wall of the gallbladder.


Adversive status epilepticus

description: A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus.


Nail dysplasia

description: The presence of developmental dysplasia of the nail.


Rib osteolysis

description: Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib.


Increased susceptibility to fractures

description: An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.


Oculoclonic status epilepticus

description: A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges.


Long ear

description: Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.


Degenerative liver disease

description: The presence of degenerative changes of the liver.


Amniotic constriction rings of arms

description: Amniotic constriction rings affecting the arms.


Abnormal lip pigmentation

description: Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.


Peritoneal abscess

description: The presence of an abscess of the peritoneum.


name: Abnormality of the epiphyses of the 3rd toe


Hyperpigmented nodule

description: A nodule of the skin that exhibits an increased amount of pigmentation.


Asymmetrical gluteal crease

description: The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg.


Decreased HDL3a concentration

description: A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.


name: Progressive extrapyramidal movement disorder


description: Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units).


name: Multifocal cerebral white matter abnormalities


Meckel diverticulum

description: A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction.


Ebstein anomaly

description: Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.


Abnormality of the hepatic vasculature

description: An abnormality of the hepatic vasculature.


Pericardial lymphangiectasia

description: An abnormal dilatation of lymph vessels in the pericardium.


Proximal aortic arch hypoplasia

description: A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta.


Severe global developmental delay

description: A severe delay in the achievement of motor or mental milestones in the domains of development of a child.


name: Atrophy/Degeneration affecting the brainstem


Hyperphalangy of the 2nd finger

description: An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy.


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

description: In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux.


Enlarged mesenteric lymph node

description: Increase in size of one or more mesenteric lymph nodes.


Abnormal renal insterstitial morphology

description: Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid.


Anti-factor V antibody positivity

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


name: Increased anti-plant based food allergen IgE antibody level

description: Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits.


protein S deficiency

description: Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals have an increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiency are those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot.


name: Grade II preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle.


Tectal plate enlargement

description: Abnormal increase in size of the tectal plate (also known as the tectum or the quadrigeminal plate). The tectum is the dorsal portion of the midbrain (brainstem).


description: Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1.


name: Decreased pituitary glycoprotein hormone alpha subunit level

description: An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).


Pyriform sperm head

description: Pyriform spermatozoa consist of a normally shaped acrosomal structure which can be normal in size or enlarged, while the post-acrosomal region shows severe elongation and an acute narrowing to the posterior end, ending in about the same thickness as the connecting mid-piece.


dysembryoplastic neuroepithelial tumor

description: A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B


Absence of pectoralis minor muscle

description: Aplasia (congenital absence) of the pectoralis minor.


Socially inappropriate behavior

description: Behavior that is not in line with social norms.


Epiphyseal stippling of toe phalanges

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes.


name: Focal aware sensory seizure with hot-cold sensations

description: A seizure characterized by sensations of feeling hot and then cold.


tricuspid atresia

description: Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV).


name: Elevated bronchoalveolar lavage fluid eosinophil proportion

description: Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced.


Aortic elastic fiber disorganization

description: Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers.


name: Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia

description: A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.


name: Apically displaced anterolateral papillary muscle

description: Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view,


Anti-SEZ6L2 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2).


name: Increased circulating procalcitonin concentration

description: An elevated concentration of procalcitonin in the blood circulation.


Broad nail

description: Increased width of nail.


subvalvular aortic stenosis

description: An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects.


Elevated CSF neopterin level

description: Increased concentration of neopterin in the cerebrospinal fluid (CSF).


name: Increased non-HDL cholesterol concentration

description: Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol).


Polyclonal elevation of circulating IgG

description: An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains.


name: Triangular shaped phalanges of the 2nd toe


Splenopancreatic fusion

description: Fusion of the pancreatic tail and spleen.


name: Favorable response of weakness to acetylcholine esterase inhibitors

description: Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.


Hearing abnormality

description: An abnormality of the sensory perception of sound.


Cerebral contusion

description: A contusion is a region of injured tissue in which blood capillaries have been ruptured without laceration (bruise). Brain contusions are bruises of the cortical surface that damage the surface from the outside inward, producing disruption of tissue and vessels. The term cerebral contusion describes the pathology of focal necrosis and hemorrhage, typically observed in older children, involving particularly cerebral cortex and subcortical white matter. Such lesions are usually found in coup and contrecoup, as well as inferior orbital, frontal, and temporal locations. Cerebral contusions cause permanent damage to tissues of the cerebrum. The etiology of cerebral contusion is trauma to the head.


split foot

description: A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.


Hamartoma of tongue

description: A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.


name: Increased sulfur amino acid level in urine

description: An elevated level of a sulfur-containing amino acid in the urine.


name: Osteolytic defects of the proximal phalanx of the 2nd finger

description: Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger.


Small flat posterior fossa

description: An abnormally small and flat configuration of the posterior cranial fossa.


Pulmonary parenchymal band

description: A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura (which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos.


Absent otoacoustic emissions

description: Failure to record otoacoustic emissions (OAE), i.e., sounds generated from the cochlea in response to an acoustic stimulus and transmitted across the middle ear to the external ear canal.


Anti-Ki antibody positivity

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


name: Focal aware cognitive seizure with forced thinking

description: A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure.


Perianal anethesia

description: Loss of sensation to the area of buttocks, perianal space and thighs.


EEG with parietal focal spike waves

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


Craniofacial asymmetry

description: Asymmetry of the bones of the skull and the face.


Wide ulnar metaphysis

description: Increase in width (breadth) of the ulnar metaphysis.


Abnormal blood carbon dioxide level

description: An abnormality of carbon dioxide (CO2) in the arterial blood.


Ankle clonus

description: Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.


Decreased serum estriol

description: A reduction below normal limits of estriol in the circulation.


Agenesis of permanent teeth

description: A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.


Acantholysis

description: The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.


name: Neonatal seizure with electrographic correlate

description: Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation.


Arcuate artery intima/media amyloidosis

description: Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.


Partial IgA deficiency

description: Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means.


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


Abnormal tricuspid valve morphology

description: Any structural anomaly of the tricuspid valve.


Antenatal intracerebral hemorrhage

description: Cerebral hemorrhage that occurs before birth.


Hypoplasia of the calcaneus

description: Underdevelopment of the heel bone.


Shortened sleep phase

description: A tendency to sleep fewer hours than usual while feeling well-rested.


Projectile vomiting

description: Vomiting that ejects the gastric contents with great force.


Elevated urinary succinylacetone level

description: Presence in the urine of succinylacetone, which is one of the toic block metabolites formed in tyrosinaemia type 1 because of a defect in the final enzyme of the pathway of the degradation of tyrosine, namely fumarylacetoacetase (FAH, EC 3.7.1.2).


Increased circulating renin level

description: An increased level of renin in the blood.


Jejunal 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 jejunum.


Right ventricular aneurysm

description: A localized, abnormal dilation or bulging of a portion of the right ventricular wall.


Aplasia of the upper vagina

description: A failure to develop of the upper vagina.


Limitation of knee mobility

description: An abnormal limitation of knee joint mobility.


Supraglottic hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords.


Citrullinuria

description: An increased concentration of citrulline in the urine.


Abnormal preputium morphology

description: An abnormality of the retractable fold of skin that covers the tip of the penis.


name: Aplasia of the proximal phalanx of the 3rd finger

description: Absence of the proximal phalanx of the 3rd finger.


aortic atherosclerosis

description: A atherosclerosis that involves the aorta.


Toe dactylitis

description: Toes appear swollen and plump owing to inflammation of the complete toe.


name: Elevated circulating plasminogen activator inhibitor 1 activity

description: The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is above the upper limit of normal.


description: Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Fused lips

description: Lack of separation of the upper and lower lips.


name: Abnormal morphology of the olfactory bulb

description: An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.


Bullet-shaped 4th toe phalanx

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


Modic type I vertebral endplate changes

description: An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation.


congenital laryngomalacia

description: Increased collapsibility of the larynx.


Anti-Septin-5 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5.


Floating gallbladder

description: An abnormal configuration in which the gallbladder is pedunculated, hanging free of the liver, and attached only by the cystic mesentery,


Delayed ability to crawl

description: A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months.


Perivascular fibrosis

description: The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern.


name: Impaired histidine renal tubular absorption


Intra-epidermal blistering

description: A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells.


Spinal rigidity

description: Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.


Beau's lines

description: A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease.


name: Normal density transverse bands in metaphyses of the upper limbs


Abnormal neck physiology

description: Any functional anomaly of the neck region.


Cholesterol crystalluria

description: The presence of cholesterol crystals in the urine.


Aplasia/Hypoplasia of the cochlea

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


Delusional atmosphere

description: Experience everything around them as sinister, portentous, uncanny, and peculiar in an indefinable way. They know that they are personally involved but cannot tell how. They have a feeling of anticipation, sometimes even excitement, that soon all the separate parts of their experience will fit together to reveal something immensely significant.


Scapuloperoneal amyotrophy

description: Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.


name: Abnormal pulmonary valve cusp morphology

description: Any structural anomaly of the pulmonary valve leaflets.


name: adnexal spiradenoma/cylindroma of a sweat gland

description: A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative.


Absent fetal nasal bone

description: The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy.


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


name: Anti-phosphatidyl serine antibody positivity

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


chronic mucocutaneous candidiasis

description: Mucocutaneous candidiasis that is persistent or long-standing in nature.


name: Proximal/middle symphalangism of 4th finger

description: Fusion of the proximal and middle phalanges of the 4th finger.


name: Decreased circulating 7-dehydrocholesterol concentration

description: Concentration of 7-dehydrocholesterol in the blood circulation below the lower limit of normal.


Curved distal toe phalanx

description: A deviation from the normal straight form of one or more distal toe phalanges.


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


Abnormality of the chin

description: An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.


name: Focal necrosis of right ventricular muscle cells


Anti-proteinase 3 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils


name: Abnormal tissue metabolite concentration

description: Any deviation from the normal concentration of a metabolite in a tissue.


Shawl sign

description: Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back.


Abnormal helix morphology

description: An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.


Leukocyte cylindruria

description: Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.


Absent cavum septum pellucidum

description: The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark that is normally visible by prenatal sonography. This term refers to the lack of visiblity of the CSP on prenatal sonography. The CSP normally can be visualized between 18 and 37 weeks of gestation. Lack of visualization of the CSP in this time period generally requires follow up and may indicate the presence of underlying malformations such as malformations of the corpus callosum. The lack of CSP before 18 weeks or after 37 weeks of gestation (or postnatally) is considered a normal finding.


Abdominal mass

description: An abnormal enlargement or swelling in the abdomen.


Abnormal CSF alanine concentration

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


name: Abnormal arcuate artery intima/media morphology

description: Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla.


Extractable nuclear antigen positivity

description: The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution.


Single coronary artery origin

description: The presence of a single coronary artery ostium from which both coronary arteries arise.


name: EEG with central epileptiform discharges

description: Focal epileptiform EEG discharges recorded in the central region.


Sleep-wake inversion

description: A reversal of sleeping habits, with a tendency to sleep during the day and be awake at night.


name: Symphalangism affecting the distal phalanx of the hallux


Abnormal 2nd finger morphology

description: An anomaly of the second finger, also known as the index finger.


Hyperconvex fingernails

description: When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity.


name: Increased circulating androstenedione concentration

description: Increased concentration of androstenedione in the blood circulation.


Hypoplastic female external genitalia

description: Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).


Reduced plasma cell count

description: An abnormally low 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.


Elevated plasma citrulline

description: An increased concentration of citrulline in the blood.


name: Elevated urinary 2'-deoxyadenosine level

description: The amount of 2'-deoxyadenosine (dAdo) in the urine, normalized for urine concentration, is above the upper limit of normal.


Spleen hamartoma

description: A hamartomatous lesion (benign focal lesions composed of disorganized tissue elements) localized in the spleen.


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


Abnormal form of the vertebral bodies

description: Abnormal morphology of vertebral body.


Elevated urine suberic acid level

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


name: Aplasia/Hypoplasia of the phalanges of the 3rd toe


name: Symphalangism of middle phalanx of 3rd finger

description: Fusion of the middle phalanx of the 3rd finger with another bone.


name: Abnormal sensory nerve conduction velocity


name: Increased bone density with cystic changes


Coffee ground vomitus

description: Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit.


Aplasia/Hypoplasia of the nasal bone

description: Absence or underdevelopment of the nasal bone.


name: Partial duplication of the distal phalanx of the 3rd finger

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


Uterine adenofibroma

description: A rare benign mullerian mixed tumor of the uterus composed of benign epithelial and mesenchymal components.


name: Elevated circulating S-adenosyl-L-homocysteine concentration

description: Increased concentration of S-adenosyl-L-homocysteine in the blood circulation.


Decreased forced expiratory flow 25-75%

description: A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.


name: Agenesis of primary maxillary central incisor

description: Agenesis of upper central primary incisor.


Increased airway neuroendocrine cells

description: Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependend on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clicnial settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs).


Abnormal thyroid morphology

description: A structural abnormality of the thyroid gland.


name: Osteolytic defects of the distal phalanges of the hand


Diffuse telangiectasia

description: Telangiectases (small dilated blood vessels) with a diffuse localization.


Abnormal fifth toe morphology

description: An anomaly of the little toe.


Glomerular extracapillary fibrin

description: Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina.


Bifid sacrum

description: Presence of a bifid sacral bone.


Grade II vesicoureteral reflux

description: Vesicoureteral reflux into a non-dilated pyelocalyceal system.


Duodenal aganglionosis

description: A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum.


epidermal appendage tumor

description: A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.


Cochlear degeneration

description: Deterioration or loss of the tissues of the cochlea.


name: Abnormal circulating alpha-fetoprotein concentration

description: Concentration of alpha-fetoprotein in the blood circulation outside normal limits.


Abnormality of the glenoid fossa

description: An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.


Broad metacarpal epiphyses

description: Increased side-to-side width of the metacarpal epiphyses.


name: Curved linear dimple below the lower lip


name: Abnormality of the distal phalanx of the 5th finger

description: Abnormality of the distal phalanx of the 5th (little) finger.


Blake's pouch cyst

description: The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna.


Abnormal forearm morphology

description: An abnormality of the lower arm.


Decreased CSF biopterin level

description: Concentration of biopterin in the cerebrospinal fluid (CSF) below the lower limit of normal.


name: Increased esterified to free carnitine ratio

description: An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.


name: Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole

description: A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.


Fractured distal phalanx of manus

description: A partial or complete breakage of the distal phalanx of manus.


name: Increased urine proteinogenic amino acid derivative level

description: An elevated urine level of a compound that is derived from an amino acid.


Pain in penis

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


name: Benign neoplasm of the central nervous system

description: A neoplasm that arises from the central nervous system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.


name: Focal sensory seizure with gustatory features

description: A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.


Delusion of love

description: A delusion (a fixed false belief held despite evidence to the contrary) of being loved by another person, even though there is no evidence of this, and the person in question denies it.


Bipedal edema

description: A palpable swelling in both feet and ankles caused by an increase in interstitial fluid volume (excess fluid).


name: Contracture of the distal interphalangeal joint of the 3rd toe

description: The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.


Hypoplastic fingernail

description: Underdevelopment of a fingernail.


tympanosclerosis

description: The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing.


hyperaldosteronism

description: Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia.


Squared iliac bones

description: A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.


Visceromegaly

description: Abnormal increased size of the viscera of the abdomen.


name: Abnormal circulating non-proteinogenic amino acid concentration

description: Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


Fractured distal epiphysis of radius

description: A partial or complete breakage of the distal epiphysis of radius.


Broad skull

description: Increased width of the skull.


Abnormality of nail color

description: An anomaly of the color of the nail.


Abnormal bronchial artery morphology

description: Any structural abnormality of a bronchial artery.


name: Elevated circulating apolipoprotein B concentration

description: Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.


name: Elevated circulating methionine sulfoxide concentration

description: The concentration of methionine sulfoxide in the blood circulation is above the upper limit of normal.


Abnormality of the calf

description: An abnormality of the calf, i.e. of the posterior part of the lower leg.


Episodic upper airway obstruction

description: Intermittent episodes of increased resistance to the passage of air in the upper airway.


name: Patchy sclerosis of the proximal phalanx of the 3rd finger

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


name: Abnormality of the vestibulocochlear nerve

description: Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing.


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

description: Patchy increase in bone density of the middle phalanx of the 5th finger.


tarsal coalition

description: Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).


Thalamic hypometabolism in FDG PET

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


Abnormal humeral diaphysis morphology

description: An anomaly of the humeral diaphysis.


Clicking tinnitus

description: A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers.


Urethral diverticulum

description: The presence of a diverticulum (sac or pouch) in the wall of the urethra.


Sclerosis of proximal toe phalanx

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


Fetal cerebellar hemisphere hemorrhage

description: A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum.


name: Abnormal umbilical artery doppler waveform during pregnancy

description: Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester.


ainhum

description: Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation.


Neonatal unilateral epileptic spasm

description: Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body.


Chronic intestinal candidiasis

description: Persistent overgrowth of Candida albicans in the gastrointestinal tract.


name: Abnormal circulating short-chain fatty-acid concentration

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


Adrenocorticotropic hormone excess

description: Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.


severe combined immunodeficiency

description: Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.


name: Abnormal serum insulin-like growth factor 1 level

description: An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.


Isometric tremor

description: An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist).


Addictive benzodiazepine use

description: Addiction to a benzodiazepine.


Interlobular vein medial atrophy

description: Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney.


name: Abnormal glomerular capillary morphology

description: A structural anomaly of the capillary blood vessels in the renal glomerulus.


High-output congestive heart failure

description: A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.


Lumbar kyphosis

description: Over curvature of the lumbar region.


name: Axillary and groin hyperpigmentation and hypopigmentation


lymphangiectasis

description: Dilatation of the lymphatic vessels.


name: Renal interstitial xanthogranulomatous inflammation

description: Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells.


subcortical band heterotopia

description: A developmental brain abnormality characterized by atypical migration of neurons during cortical development.


Partial beta-EEG

description: EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz).


name: EEG with centrotemporal focal spike waves

description: EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


Abnormal caudate nucleus morphology

description: Any structural abnormality of the caudate nucleus.


Non-midline cleft of the upper lip

description: Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.


Ridged fingernail

description: Longitudinal, linear prominences in the fingernail plate.


Hypoplasia of the ovary

description: Developmental hypoplasia of the ovary.


Rhizomelia

description: Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).


name: Modic type II vertebral endplate changes

description: An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow.


Lhermitte-Duclos disease

description: Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.


Increased urinary cortisol level

description: Abnormally increased concentration of cortisol in the urine.


Shoulder dystocia

description: Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.


Overfriendliness

description: A form of hypersociability that presents as mostly inappropriate friendliness towards others.


Short distal phalanx of toe

description: Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.


Abnormal factor VIII activity

description: A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.


name: Progressive pulmonary function impairment


mesocardia

description: Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.


leukodystrophy

description: Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems.


Fractured proximal phalanx of manus

description: A partial or complete breakage of the proximal phalanx of manus.


name: Decreased circulating corticosterone level

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


Increased scrotal rugation

description: Increased number or density of the folded ridges (wrinkles) of skin of the scrotum.


Decreased vigilance

description: A decrease in the ability to maintain sustained attention is characterized by reduced alertness.


Increased circulating IgG1 level

description: An abnormally increased concentration of the IgG1 subtype in the blood circulation.


name: Abnormal circulating ornithine concentration

description: Deviation from the normal concentration of ornithine in the blood circulation.


Abnormal skin adnexa morphology

description: An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.


Procedural memory loss

description: A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument.


name: Reduced epidermal plectin protein expression


inborn mitochondrial myopathy

description: Myopathy caused by mitochondrial abnormalities.


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


Posterior pituitary dysgenesis

description: Abnormal development of the neurohypophysis during embryonic growth and development.


Salmonella osteomyelitis

description: Osteomyelitis caused by infection with the bacteria, salmonella.


Arcuate artery endotheliosis

description: Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling.


name: Elevated circulating propionylcarnitine concentration

description: Increased concentration of propionylcarnitine in the blood circulation.


Circumoral cyanosis

description: Persistent blue color of the skin that surrounds the mouth.


Proximal scleroderma

description: Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk.


name: Duplication of the middle phalanx of the 2nd finger

description: Partial or complete duplication of the middle phalanx of index finger.


name: Contracture of the interphalangeal joint of the hallux

description: The interphalangeal joint of the big toe cannot be straightened actively or passively.


Left ventricular systolic dysfunction

description: Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.


name: Decrease in high molecular weight von Willebrand factor Multimers

description: A decrease in high molecular weight von Willebrand factor multimers.


name: Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine

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


name: Elevated urinary phenylpyruvic acid level

description: An abnormally increased amount of phenylpyruvic acid in the urine.


Ballooning hepatocyte degeneration

description: Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarefied, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62.


Decreased urinary norepinephrine level

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


name: Elevated proportion of CD4+ effector memory T cells

description: An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype.


Fractured distal tarsal bone

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


name: Decreased cirrculating antimullerian hormone circulation

description: A reduction below the normal range of the antimullerian hormone in the circulation.


Abnormal blistering of the skin

description: The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.


Decreased CSF tyrosine concentration

description: Abnormally decreased levels of tyrosine in cerebrospinal fluid.


Focal cortical dysplasia type Ib

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


name: Intermittent generalized erythematous papular rash


1-2 finger syndactyly

description: Syndactyly with fusion of fingers one and two.


name: Easily subluxated first metacarpophalangeal joints


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


name: Focal aware autonomic seizure with piloerection

description: A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure.


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


osteoarthritis, knee

description: Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)


Supernumerary testes

description: The presence of more than two testes.


medulloepithelioma

description: A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting.


name: Decreased proportion of CD4-positive T cells

description: A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.


Anti-La/SS-B antibody positivity

description: The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens.


name: Fatty replacement of ventricular myocardial tissue

description: Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue.


Fractured upper limb segment

description: A partial or complete breakage of the upper limb segment.


name: Aplasia of the distal phalanx of the 5th finger

description: Absence of the distal phalanx of the little (5th) finger.


name: Abnormal morphology of myocardial trabeculae

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


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


Cuboidal metacarpal

description: Severely shortened metacarpal with a cuboidal appearance.


Decreased HDL2a concentration

description: A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.


Cardiac polyglucosan accumulation

description: Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in myocardial tissue.


name: Pseudoepiphysis of the middle phalanx of the 5th finger

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


Abnormal Sharpey fiber morphology

description: An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone.


Interictal EEG abnormality

description: Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.


Elevated cholesterol ester level

description: An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol.


Monoclonal elevation of circulating IgA

description: An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


Anti-GW182 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182.


name: Abnormal proportion of effector memory CD8-positive, alpha-beta T cells

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


Serrated incisors

description: Incisor teeth with irregular edges said to resemble a saw.


name: Focal impaired awareness autonomic seizure with erection

description: A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure.


Vestibular saccular degeneration

description: Deterioration or loss of the tissues of the saccule of the vestibule.


name: Abnormal glomerular endothelial cell morphology

description: An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier.


Thyroid agenesis

description: The congenital absence of the thyroid gland.


name: Focal aware cognitive seizure with receptive dysphasia/aphasia

description: A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure.


Short tibia

description: Underdevelopment (reduced size) of the tibia.


White cerebellum sign

description: On computed tomography of the brain,the white (or dense) cerebellum sign is seen when the cerebellum appears dense with respect to the cerebral parenchyma. The increase in attenuation of cerebellum is in fact a relative hyperdensity caused by decreased attenutation of the brain. It represents anoxic-ischemic cerebral injury, and has a very poor prognosis.


name: Low alkaline phosphatase of renal origin

description: An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood.


Upper limb postural tremor

description: A type of tremors that is triggered by holding an arm in a fixed position.


name: Decreased circulating A-type natriuretic peptide concentration

description: A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.


Neoplasm of striated muscle

description: A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle.


Oral melanotic macule

description: Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented.


Axial hypotonia

description: Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.


Holster sign

description: Symmetric poikiloderma of hips and lateral thighs below the greater trochanter.