Impaired executive functioning

description: A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia.


name: Decreased circulating beta-carotene concentration

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

description: The concentration of beta-carotene in the blood circulation is below the lower limit of normal.


name: Right ventricular outlet tract obstruction

description: An obstruction to the forward flow of blood in the outflow tract of the right ventricle.


alveolar soft part sarcoma

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

description: An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh.


Paraseptal emphysema

description: Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae.


adenoid hypertrophy

description: An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing.


Simultanapraxia

description: A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue.


Hypoplasia of the femoral head

description: Underdevelopment of the femoral head.


Abnormal circulating IgD level

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


name: Decreased circulating selenium concentration

description: An abnormally reduced concentration of selenium in the blood circulation.


name: Abnormality of central nervous system electrophysiology


Wind-swept deformity of the knees

description: The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.


Redundant skin on fingers

description: Loose and sagging skin of the fingers.


Dysplastic distal radial epiphyses

description: Abnormally developed (dysplastic) distal epiphysis of the radius.


Abnormal scrotum morphology

description: Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord.


Spermatocyte maturation arrest

description: A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids.


name: Right aortic arch with retroesophageal left subclavian artery


upper limb mesomelic dysplasia

description: This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.


CSF autoimmune antibody positivity

description: The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues.


name: Abnormality of lipoprotein cholesterol concentration

description: An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.


Recurrent hand flapping

description: A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically.


Lithoptysis

description: Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen.


Penile swelling

description: Abormal enlargement of the penis owing to accumulation of fluid.


Thymic carcinoid tumor

description: A primary thymic neuroendocrine tumor.


Duplication of pancreatic duct

description: A congenital anomaly characterized by the presence of two separate pancreatic ducts.


Hyperpigmented genitalia

description: Localized or generalized increased genital pigmentation.


Renal hamartoma

description: A disordered proliferation of mature tissues that are native to the kidneys.


Abnormal cerebellar vermis morphology

description: An anomaly of the vermis of cerebellum.


Delayed ability to stand

description: A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.


name: Abnormal interlobular vein lumen morphology

description: Any structural anomaly located in the the inside space of the interlobular veins of the kidney.


name: Delayed brainstem auditory evoked response conduction time

description: An abnormal increase (delay) in the conduction time of the brainstem auditory-evoked response.


Hypochloriduria

description: An decreased concentration of chloride in the urine.


Bone-in-a-bone appearance of forearm

description: A descriptive term for a forearm bone that appears to have an additional bone within it on radiography.


name: Anti-tissue transglutaminase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase.


Spinal arachnoid cyst

description: Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.


Decreased CSF albumin concentration

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


Sclerosis of 2nd finger phalanx

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


Pulmonary imaging sign

description: An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images.


name: Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal

description: Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal.


Femoral hernia

description: A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.


Cutaneous lichen amyloidosis

description: Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs.


name: Hypersegmentation of proximal phalanx of second finger

description: Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.


name: Complete duplication of the middle phalanx of the 4th finger

description: Complete duplication of the middle phalanx of ring finger.


Absent earlobe

description: Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.


Agenesis of pulmonary vessels

description: A developmental defect characterized by the lack of formation of the pulmonary blood vessels.


Abnormal pulmonary valve morphology

description: Any structural abnormality of the pulmonary valve.


description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155.


Aplasia/Hypoplasia of the ulna

description: Absence or underdevelopment of the ulna.


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

description: Epiphysis of the proximal phalanx of the thumb having multiple bony fragments.


Complete duplication of thumb phalanx

description: A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


name: Focal motor seizure with paresis/paralysis

description: A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation.


Premature eruption of permanent teeth

description: Premature tooth eruption of the permanent dentition.


name: Abnormality of circulating glucocorticoid level

description: An abnormality of the concentration of a glucocorticoid in the blood.


Motor conduction block

description: Blockade of impulses at a focal site along the course of a motor axon.


name: Respiratory insufficiency due to muscle weakness


Mesangial fibril deposition

description: Extracellular mesangial accumulation of slender proteinaceous fibers.


Flat acetabular roof

description: Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.


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


name: Decreased glucose-6-phosphate dehydrogenase level in blood

description: A decrease in the level of glucose-6-phosphate dehydrogenase in the blood.


Abnormal dental enamel morphology

description: An abnormality of the dental enamel.


Champagne cork sign

description: Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding.


Enlarged semicircular canal

description: Increased size of the semicircular canal.


Prolonged bleeding following procedure

description: Prolonged or protracted bleeding following an invasive procedure or intervention.


Aphasic status epilepticus

description: Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit.


Intermittent diarrhea

description: Repeated episodes of diarrhea separated by periods without diarrhea.


name: Thinning and bulging of the posterior fossa bones


Abnormal sudomotor regulation

description: An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration.


Thin long bone diaphyses

description: Decreased width of the diaphysis of long bones.


Slender build

description: Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.


Anti-LABD97 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion.


perinatal asphyxia

description: A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process.


Narrow iliac wing

description: Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).


Perioral erythema

description: Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.


name: Absent ossification of capital femoral epiphysis

description: Lack of ossification of the proximal epiphysis of the femur.


name: Focal cognitive seizure with dysgraphia/agraphia

description: A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation.


Prominent superior crus of antihelix

description: Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem.


Stiff tongue

description: Increased rigidity and reduced mobility of the tongue.


Endocrine-type tubular atrophy

description: A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes.


Reduced attention regulation

description: An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention.


name: Impaired thrombin-induced platelet aggregation

description: Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics).


Right axis deviation

description: A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used.


Short philtrum

description: Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.


Cerebellar vermis atrophy

description: Wasting (atrophy) of the vermis of cerebellum.


Splanchnic vein thrombosis

description: The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).


name: Clumping of elastic fibers in the dermis

description: Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis).


name: Bilateral multifocal epileptiform discharges

description: Epileptiform discharges being identified at multiple locations in both hemispheres.


Curved distal phalanx of the 4th toe

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


Focal aware motor seizure with dystonia

description: A focal motor seizure with dystonia characterized by retained awareness throughout the seizure.


name: Predominantly epidermal neutrophilic infiltrate

description: Collection of neutrophils in the epidermis.


Jaw hyperreflexia

description: Increased intensity of muscle tendon reflexes in jaw.


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

description: Partial or complete duplication of the distal phalanx of little finger.


name: Abnormal proportion of transitional B cells

description: A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.


Abnormal cardiac atrium morphology

description: Any structural abnormality of a cardiac atrium.


High-pitched cry

description: A type of crying in an abnormally high-pitched voice.


Microform cleft of the upper lip

description: Notch, groove, or scar of the upper lip without noticeable rupture of the lip.


Abnormality of the pulmonary artery

description: An abnormality of the pulmonary artery.


name: Abnormal circulating mannose-binding protein concentration

description: Any deviation from the normal concentration of mannose-binding protein in the blood circulation.


Crimped helix

description: Linear, circumferential indentation in the convexity of the outer surface of the helix.


Peritoneal effusion

description: An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).


Enlarged cisterna magna

description: Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.


Spermatogonial maturation arrest

description: A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatogonial stage. Testicular histology shows seminiferous tubules with Sertoli cells and spermatogonial cells but no further differentiated cells like spermatocytes or round spermatids.


Anterior radial head dislocation

description: A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction.


Wide proximal femoral metaphysis

description: Increased width of the proximal part of the shaft (metaphysis) of the femur.


name: Cortical radial artery intima/media coagulative necrosis

description: A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


name: Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio

description: A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin).


name: Anti-soluble liver antigen/liver pancreas antibody positivity

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


Sudden episodic apnea

description: Recurrent bouts of sudden, severe apnea that may be life-threatening.


Hypoplasia of the frontal lobes

description: Underdevelopment of the frontal lobe of the cerebrum.


Decreased urine creatinine level

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


Abnormal central motor function

description: An anomaly of the control or production of movement in the central nervous system.


name: Contracture of the metacarpophalangeal joint of the 5th finger

description: Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue.


name: Ventricular preexcitation with multiple accessory pathways

description: A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction.


Decreased RV/TLC ratio

description: An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.


Fractured shoulder

description: A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint.


Grade IV vesicoureteral reflux

description: Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter.


2-oxoadipic aciduria

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


uniparental disomy

description: A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders.


name: Progressive extrapyramidal muscular rigidity

description: A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).


Reduced fetal long bone echogenicity

description: An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. Ths finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis.


name: Aplasia/Hypoplasia of the cerebellar vermis

description: Absence or underdevelopment of the vermis of cerebellum.


Fetal skin edema

description: A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue.


Type II atherosclerotic lesion

description: Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid.


Occipital horn

description: Downward pointing exostoses of the occipital bone situated in the tendinous insertions of the sternocleidomastoid and trapezius muscles.


Inferior cerebellar vermis hypoplasia

description: Underdevelopment of the inferior portion of the vermis of cerebellum.


Duplication of phalanx of 3rd finger

description: This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Poor gross motor coordination

description: An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.


name: Abnormal middle phalanx morphology of the hand

description: An anomaly of middle phalanx of finger.


Angulation of penis

description: Abnormally increased curvature of the penis.


name: Aplasia/Hypoplasia involving the corticospinal tracts


IgM heavy chain paraproteinemia

description: An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.


Abnormality of the bladder

description: An abnormality of the urinary bladder.


Hepatic lobular inflammation

description: Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes).


Ureteral hamartoma

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


Hypercystinemia

description: An increased amount of cystine in the blood.


Peripheral schwannoma

description: The presence of a peripheral schwannoma.


name: Ivory epiphyses of the proximal phalanges of the hand

description: Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Focal T1 hyperintense brainstem lesion

description: A lighter than expected T1 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.


Deficit in phonologic short-term memory

description: Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory


Pneumocystis jirovecii pneumonia

description: An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.


Renal cortical adenoma

description: The presence of an adenoma in the cortex of the kidney.


Oligodontia

description: The absence of six or more teeth from the normal series by a failure to develop.


Myelin-dependent gliosis

description: A type of gliosis that occurs in the vicinity of injured neurons.


testicular agenesis

description: An abnormality of XY sexual development characterized by the absence of both testes at birth.


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

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


name: Elevated circulating apolipoprotein C-III concentration

description: An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons.


Abnormal epidermal morphology

description: An abnormality of the morphology of the epidermis.


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


Severe viral infection

description: An unusually severe viral infection.


Focal emotional seizure with laughing

description: Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'.


Posterior wedging of vertebral bodies

description: An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).


Elevated urine fumaric acid level

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


name: Abnormal posterior pituitary morphogenesis

description: An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.


Abnormal choroid plexus morphology

description: An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.


name: Reduced circulating erythropoietin concentration

description: Decreased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.


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

description: Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.


Distributive shock

description: A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage


Knee extension contracture

description: A type of knee joint contracture in which the knee lacks full expected flexion, such that the upper and lower leg cannot be brought together.


Abnormality of skin physiology

description: Any abnormality of the physiological function of the skin.


Large intestinal polyposis

description: The presence of multiple polyps in the large intestine.


Compression-fractured lumbar vertebra

description: A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.


Abnormal hallux morphology

description: This term applies for all abnormalities of the big toe, also called hallux.


Displaced lobar tracheal bronchus

description: Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus.


name: Duplication of the middle phalanx of the 4th finger

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


Abnormal number of teeth

description: The presence of an altered number of of teeth.


Abnormal drinking behavior

description: Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.


Anti-annexin A5 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin A5.


name: Abnormal nasopharyngeal adenoid morphology

description: Any abnormality of nasopharyngeal adenoids.


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

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


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


Abnormality of iron homeostasis

description: An abnormality of the homeostasis (concentration) of iron cation.


Ventricular preexcitation

description: An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.


name: Duplication of the phalanges of the 5th toe

description: Partial or complete duplication of one or more phalanx of little toe.


name: Partial duplication of the 1st metatarsal

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


name: Bracket epiphyses of the proximal phalanges of the hand

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


Rest dyspnea

description: A perception of shortness of breath that occurs independently of exertion.


name: Chronic rhinitis due to narrow nasal airway


Thalamic hemorrhage

description: Bleeding in the thalamus.


histiocytoma

description: A mesenchymal tumor composed of fibroblastic and histiocytic cells.


name: Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT

description: A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree.


name: Abnormal proportion of marginal zone B cells

description: A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.


name: atrial septal defect, ostium primum type

description: Atrioventricular septal defect with communication at the atrial level only.


name: Partial duplication of the middle phalanx of the 4th finger

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


Anti-GM1 IgG antibody positivity

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


Increased urinary copper concentration

description: An increased concentration of copper in the urine.


name: Amyotrophy involving the shoulder musculature


name: Dextrotransposition of the great arteries

description: A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.


Clubbing of toes

description: Terminal broadening of the toes (distal phalanges of the toes).


mononeuritis multiplex

description: A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome.


factor V deficiency

description: A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.


name: Fractured epiphysis of second metatarsal bone

description: A partial or complete breakage of the epiphysis of second metatarsal bone.


Absence of epidermal lamellar bodies

description: Lack of lamellar bodies (LBs) inthe epidermis. LBs are specialized organelles that contain pro-barrier lipids imparting a fully lamellar internal structure, but also other cargoes such as enzymes (lipid metabolizing and proteolytic), enzyme inhibitors, and antimicrobial peptides.


Abnormal cerebral cortex morphology

description: Any structural abnormality of the cerebral cortex.


name: Anti-beta-2-Glycoprotein I IgG antibody positivity

description: Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.


Peripheral dysmyelination

description: Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.


motor peripheral neuropathy

description: Inflammation or degeneration of the peripheral motor nerves.


Alveolar bone loss around teeth

description: A decrease in the amount of alveolar bone around the root of a tooth.


Anti-desmoplakin I antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1.


Darwin notch of helix

description: Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix.


Silver-gray hair

description: Hypopigmented hair that appears silver-gray.


name: Abnormal circulating sex hormone concentration

description: Any deviation from the normal concentration of a sex hormone in the blood circulation


name: Irregular epiphyses of the distal phalanges of the hand


High serum calcifediol

description: An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.


Microform bilateral cleft lip

description: Bilateral cleft lip in which the cleft lip on both sides are microform, i.e. a notch, groove, or scar without noticeable rupture of the lip.


name: Decreased CSF phenylalanine concentration

description: Abnormally decreased levels of phenylalanine in cerebrospinal fluid.


Vertebral hyperostosis

description: Excessive growth of the bones of the vertebral bodies.


Cardiomyocyte hypertrophy

description: An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.


Lipid-laden lymph node macrophages

description: Lymph node with increased numbers of macrophages heavily laden with lipids.


Large posterior fontanelle

description: An enlargement of the posterior fontanelle relative to age-dependent norms.


Intraventricular arachnoid cyst

description: An arachnoid cyst located within the ventricular system.


Cervical hypoplasia

description: Underdevelopment of the uterine cervix.


Curved proximal phalanx of the hallux

description: A deviation from the normal straight form of the proximal phalanx of the big toe.


Decreased intestinal transit time

description: A reduction in the length of time required for food to pass through the intestines.


Upper limb amyotrophy

description: Muscular atrophy involving the muscles of the upper limbs.


name: Patent ductus arteriosus after birth at term

description: Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.


name: Decreased circulating creatine kinase concentration

description: A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood.


acalvaria

description: Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.


Cervical aortic arch

description: The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.


adrenogenital syndrome

description: Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.


Increased CSF methionine concentration

description: Concentration of methionine in the cerebrospinal fluid above the upper limit of normal.


Impaired nasal mucociliary clearance

description: An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes.


Notched P wave

description: V-shaped cut (notch) in the middle of the P wave.


Bifid nail

description: A digit with two nails, with at least some soft tissue between them.


name: Anti-angiotensin-converting enzyme 2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2.


Ectopic thymus tissue

description: The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend.


Congenital facial diplegia

description: Facial diplegia (that is, bilateral facial palsy) with congenital onset.


Persistent cloaca

description: Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.


Synotia

description: A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw.


Progressive distal muscular atrophy

description: Progressive muscular atrophy affecting muscles in the distal portions of the extremities.


Differential cyanosis

description: Differential degree of bluish discoloration between the upper and lower extremities.


malignant pericardial mesothelioma

description: A rare neoplasm of mesothelial origin that arises from the pericardium.


Increased urinary 1-methylhistidine

description: Increased concentration of 1-methylhistidine in the urine.


Cardiac conduction abnormality

description: Any anomaly of the progression of electrical impulses through the heart.


Recurrent coughing spasms

description: Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing.


Dysgenesis of the hypothalamus

description: Structural abnormality of the hypothalamus related to defective development.


EEG with occipital focal spike waves

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


Anti-factor X antibody positivity

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


Hypoplasia of proximal radius

description: Proximal radial shortening owing to a congenital defect of development.


Abnormal endometrium morphology

description: An anomaly of the inner mucous membrane of the uterus.


name: Anomalous branches of internal carotid artery


Abnormality of the upper urinary tract

description: An abnormality of the upper urinary tract.


Maternal fever in pregnancy

description: The occurence of an elevated body temperature of the mother during pregnancy.


Increased spinal bone density

description: Increased bone density affecting the bones of the spine (vertebral column).


Descending aorta hypoplasia

description: Significant luminal narrowing of a long segment of the descending aorta.


Low femoral bone density

description: Reduced bone mineral density of the femur.


name: Complete duplication of the phalanges of the 2nd toe

description: Complete duplication of a phalanx of second toe.


Increased circulating IgD level

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


Dysplastic pulmonary valve

description: A congenital malformation of the pulmonary valve characterized by leaflet deformation.


3-5 finger syndactyly

description: Syndactyly with fusion of fingers three to five.


Global cerebellar dysplasia

description: A type of cerebellar dysplasia that affects the entire cerebellum.


name: Anti-thyroid-stimulating hormone receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone.


Shoulder girdle muscle atrophy

description: Amyotrophy affecting the muscles of the shoulder girdle.


name: Abnormality of the musculature of the upper limbs


Anterior bowing of long bones

description: An abnormal anterior curvature of a long bone.


Seminal vesicle cyst

description: A cyst (sac-like mass that may contain serous liquid or semisolid material) caused by distention of the seminal vesicle due to atresia of the ejaculatory duct.


Sensory seeking

description: Unusual interest in sensory aspects of the environment.


Calf muscle hypoplasia

description: Underdevelopment of the muscuklature of the calf.


name: Bullet-shaped distal phalanx of the 2nd finger

description: Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected.


Aplasia of the olfactory tract

description: Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell.


testicular gonadoblastoma

description: A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells.


vesicoureteral reflux

description: Abnormal flow of urine from the urinary bladder back into the ureters.


ureter neoplasm

description: A benign or malignant neoplasm that affects the ureter.


name: Arcuate artery endoarterial neutrophil hypercellularity

description: A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery.


Emotional hypersensitivity

description: Heightened emotional reactivity to environmental stimuli, including the emotions of others.


Insect bite allergy

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


Uterine cervix myxoma

description: A myxoma (tumor of primitive connective tissue) localized to the the cervix of the uterus.


Elevated urinary dihydrouracil level

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


Permanent atrial fibrillation

description: Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.


name: Anti-phospholipase A2 receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor.


Oral cavity bleeding

description: Recurrent or excessive bleeding from the mouth.


name: Elevated circulating thymine concentration

description: Concentration of the nucleobase thymine in the blood circulation above the normal range.


name: Increased proportion of transitional B cells

description: An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.


J wave

description: The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.


Distal clavicular thinning

description: Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region.


Focal aware hemifacial clonic seizure

description: Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout.


name: Polymorphic focal epileptiform discharges

description: Focal epileptiform discharges of different shapes and frequencies.


name: Increased level of hippuric acid in blood

description: An increase in the level of hippuric acid in the blood.


Deep longitudinal plantar crease

description: Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.


Abnormal vertebral artery morphology

description: An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.


Onychotillomania

description: Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.


Antimitochondrial antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria.


Dumbbell-shaped humerus

description: The humerus is shortened and displays flaring (widening) of the metaphyses.


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

description: Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger.


name: Aplasia/Hypoplasia of the 2nd metacarpal

description: Aplasia or Hypoplasia affecting the 2nd metacarpal.


name: Abnormal circulating apolipoprotein concentration

description: A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation.


name: Reticulonodular pattern on pulmonary HRCT

description: Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.


Anti-NMDA receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.


Recurrent encephalopathy

description: Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.


Abnormal renal medulla morphology

description: Any structural abnormality of the medulla of the kidney.


name: Functional abnormality of male internal genitalia


Recurrent parasitic infections

description: Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection.


Decreased CSF/serum albumin ratio

description: A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.


Struvite nephrolithiasis

description: Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).


Elevated urine aconitic acid level

description: An abnormally increased level of aconitic acid in the urine.


Thick hair

description: Increased density of hairs, i.e., and elevated number of hairs per unit area.


Glossoptosis

description: Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.


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


Midline liver

description: Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach.


name: Abnormal CSF phenylalanine concentration

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


Hyperorality

description: Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects.


Increased CSF glutamine concentration

description: Abnormally increased levels of glutamine in cerebrospinal fluid.


name: Cone-shaped epiphysis of the proximal phalanx of the 5th toe


Anti-MAP1B antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B).


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


Abnormal vocal cord morphology

description: An abnormality of the vocal cord.


Abnormal carotid artery morphology

description: Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.


Short middle phalanx of the 5th toe

description: Developmental hypoplasia of the middle phalanx of the 5th toe.


name: Ivory epiphyses of the phalanges of the hand

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


name: Stippling of the epiphysis of the 1st metatarsal


name: Osteolysis involving bones of the lower limbs


Toe extensor amyotrophy

description: Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.


Strawberry tongue

description: Inflamed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry.


Tryptophanuria

description: An increased concentration of tryptophan in the urine.


Cobblestone-like hyperkeratosis

description: The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.


Decreased CSF threonine concentration

description: Abnormally decreased levels of threonine in cerebrospinal fluid.


Abnormal cervical curvature

description: The presence of an abnormal curvature of the cervical vertebral column.


Moderate hearing impairment

description: The presence of a moderate form of hearing impairment.


Invasive parasitic infection

description: A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host.


popliteal cyst

description: A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint.


Anti-envoplakin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions.


proximal spinal muscular atrophy

description: Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


Abnormal proportion of naive T cells

description: Any abnormality in the proportion of naive T cells relative to the total number of T cells.


Hepatojugular reflux

description: The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux.


name: Partial duplication of the phalanges of the 3rd finger

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Abnormal aortic valve cusp morphology

description: Any structural anomaly of the aortic valve leaflets.


name: Elevated circulating glutaric acid concentration

description: An increased concentration of glutaric acid in the blood.


name: Elevated circulating calprotectin concentration

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


Hypoplasia of the vagina

description: Developmental hypoplasia of the vagina.


Increased level of L-fucose in urine

description: An increase in the level of L-fucose in the urine.


name: Abnormality of the distal tibial epiphysis


name: Abnormal medullary peritubular capillary morphology

description: Anomalous structure of the peritubular capillaries located in the medulla of the kidney.


Ambiguous genitalia, male

description: Ambiguous genitalia in an individual with XY genetic gender.


name: Right aortic arch with mirror image branching

description: The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.


Abnormal hepatic artery morphology

description: Any structural anomaly of the hepatic artery or its branches.


Abnormal dentin morphology

description: Any abnormality of dentin.


name: Partial duplication of the distal phalanx of the 2nd toe

description: Partial duplication of the distal phalanx of second toe.


Horizontal crus of helix

description: An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly.


name: Pseudoepiphysis of the proximal phalanx of the thumb

description: A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb.


Pelvic kidney

description: A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.


Abnormal ethmoid bone morphology

description: An abnormality of the ethmoid bone


Fractured proximal phalanx of digit 4

description: A partial or complete breakage of the proximal phalanx of digit 4.


Anal stenosis

description: Abnormal narrowing of the anal opening.


Neonatal multifocal clonic seizure

description: Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites.


Trigeminal anesthesia

description: Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth.


name: Anti-histidyl tRNA synthetase antibody positivity

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


Hyperextensibility of the knee

description: The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh).


Subaortic ventricular septal bulge

description: A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy.


Reduced CSF creatine concentration

description: The concentration of creatine in the cerebrospinal fluid (CSF) is below the lower limit of normal.


Snout reflex

description: A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout.


Increased circulating ACTH level

description: An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.


Fractured carpal bone

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


Hypoplasia of the pharynx

description: Underdevelopment of the pharynx.


Clinodactyly of the 5th toe

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


Thyroid dysgenesis

description: A congenital condition characterized by hypoplasia, absence, or ectopic position of the thyroid gland. It is manifested with congenital hypoparathyroidism.


Foamy urine

description: Urine has an increased amount of frothy fine bubbles.


Lower limb phocomelia

description: Phocomelia affecting only the lower limbs.


Mesomelic leg shortening

description: Shortening of the middle parts of the leg in relation to the upper and terminal segments.


Abnormal brain-evoked potentials

description: Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronized activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorized as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units.


Osteochondromyxoma

description: A rare benign chondroid and osteoid matrix-producing neoplasm of bone characterized by extensive myxoid changes. OMX originate from bony cortices and have been observed in the nasal region, as well as the tibia and radius.


Agenesis of pineal gland

description: Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.


name: Bullet-shaped proximal phalanx of the 2nd toe

description: An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


name: Decreased circulating thyroxine-binding globulin concentration

description: A reduction from the normal concentration of thyroxine-binding globulin (TBG) in the blood circulation.


name: Abnormal circulating fibroblast growth factor 23 concentration

description: The concentration of fibroblast growth factor 23 in the blood circulation is outside of the limits of normal.


Reduced cerebral white matter volume

description: An abnormally low volume of the white matter of the brain.


Elevated left atrial pressure

description: An abnormal increase in magnitude of the pressure in the left atrium.


Anti-endomysial antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2).


Thickened nuchal skin fold

description: A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.


Monoclonal elevation of IgG light chain

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


1-5 finger syndactyly

description: Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand).


Monocarboxylic aciduria

description: Level of a monocarboxylic acid in the urine above the upper limit of normal. A monocarboxylic acid is an oxoacid containing one carboxy group.


Purulent parotid gland drainage

description: Excretion of pus (purulent discharge) from the opening of the parotid duct.


Disturbance of facial expression

description: An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.


name: Elevated circulating tetradecanoylcarnitine concentration

description: Elevated circulating tetradecanoyl concentration.


name: Complete heart block with narrow QRS complexes

description: A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.


Spindle-shaped finger

description: Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base).


Generalized hypoplasia of dental enamel

description: A generalized form of developmental hypoplasia of the dental enamel.


name: Elevated urine 2-hydroxy-3-methylvaleric acid level

description: Amount of 2-hydroxy-3-methylvaleric acid in the urine above the upper limit of normal. 2-Hydroxy-3-methylpentanoic acid or 2-hydroxy-3-methylvaleric acid (HMVA) is an organic acid generated by L-isoleucine metabolism.


Malalignment of the great toenail

description: A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.


Visceral epithelial cell detachment

description: Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'.


Fusion of the caudate and putamen

description: Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule.


name: Abnormal male internal genitalia morphology

description: An abnormality of the male internal genitalia.


Iliac artery aneurysm

description: Abnormal outpouching or sac-like dilatation in the iliac artery.


name: Osteolytic defects of the phalanges of the 4th finger

description: Osteolytic defects of the phalanges of the 4th (ring) finger.


Reduced insulin-like factor 3 level

description: Blood concentration of insulin-like factor 3 (ILF3) is below normal limits.


Small scrotum

description: Apparently small scrotum for age.


Bilioduodenal fistula

description: An abnormal connection between the gallbladder and the duodenum.


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

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe.


name: Increased anti-food allergen IgE antibody level

description: Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish.


Reduced pancreatic beta cells

description: Reduced number of beta cells in the pancreatic islets of Langerhans.


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


Low voltage EEG

description: EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz).


name: Elevated circulating guanidinoacetic acid concentration

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


name: Abnormal response to insulin tolerance test

description: An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level.


name: Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena

description: A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.


Elevated urinary porphyrin level

description: The amount of a porphyrin compound in the urine, normalized for urine concentration, is above the upper limit of normal. Porphrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. Porpyrins giove rise to heme and combalamine.


name: Fragmentation of the epiphyses of the 3rd toe


schneckenbecken dysplasia

description: Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.


Childhood-onset truncal obesity

description: Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.


Short stature

description: A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


name: Reduced volume of central subdivision of bed nucleus of stria terminalis

description: A diminished volume of the central part of the bed nucleus of the stria terminalis.


Premature loss of permanent teeth

description: Premature loss of the permanent teeth.


Abnormal cellular phenotype

description: An anomaly of cellular morphology or physiology.


Skin plaque

description: A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.


meningocele

description: A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium.


Abnormal venous morphology

description: An anomaly of vein.


Increased CD4:CD8 ratio

description: An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells.


name: Pseudoepiphysis of the distal phalanx of the 3rd toe


Mitral opening snap

description: Opening snap is an additional sound heard in the diastole that is related to the opening of a stenotic but mobile mitral valve. It is described as an early diastolic, high-pitched sound, which is associated with opening of the mitral and/or tricuspid valve.


Ovarian cystadenoma

description: A common, benign ovarian tumor that carries a good prognosis. The two most frequent types of cystadenomas are serous and mucinous cystadenomas whereas endometrioid and clear cell cystadenomas are rare.


name: Abnormal urinary nitrogen compound level

description: The amount of a nitrogen compound in the urine, normalized for urine concentration, is outside of normal limits.


Fractured manual digit bone

description: A partial or complete breakage of the manual digit bone.


Diffuse cerebral calcification

description: Generalized deposition of calcium salts within the cerebrum.


name: Focal EEG discharges with secondary generalization

description: Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.


Telangiectases of the cheeks

description: Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.


schizencephaly

description: Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.


Abnormal metaphyseal trabeculation

description: An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.


Myocardial eosinophilic infiltration

description: An increase in the number of eosinophils in myocardial tissue.


Reduced social smiling

description: Reduced production of smiles during engagement with an interactive parent, caregiver, or peer.


name: Positive 2,4-dinitrophenylhydrazine urine test

description: Positive (abnormal) result of the 2,4-dinitrophenylhydrazine urine test, which indicates the presence of alpha-ketoacids in the urine.


Wrist ganglion

description: A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule.


Triphalangeal hallux

description: A hallux (big toe) with three phalanges in a single, proximo-distal axis.


Syntelencephaly

description: Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions.


Renal hypoplasia/aplasia

description: Absence or underdevelopment of the kidney.


Aplasia of the inner ear

description: Absence of the inner ear due to a developmental defect.


name: Irregular epiphysis of the proximal phalanx of the 3rd finger

description: Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger.


name: Thickening of the lateral border of the scapula


name: Bone-in-a-bone appearance of carpal bones

description: The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.


pineocytoma

description: Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.


name: Elevated circulating long chain fatty acid concentration

description: Increased concentration of long-chain fatty acids in the blood circulation.


name: Bullet-shaped distal phalanx of the 5th toe

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


Renal arteriole medial hypertrophy

description: Increased thickness of middle layer of the arterioles of the kidney.


Platystencephaly

description: Extreme width of the skull in the occipital region, with anterior narrowing and prognathism.


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


name: Abnormality of peripheral nerve conduction

description: An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).


Abnormal temper tantrums

description: Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums.


Indifference to social norms

description: Failure to follow social norms (shared standards of acceptable behavior) even though one has awareness of these norms and the ability to follow them. This is characterized by an indifference to the consequences of breaking social norms.


Short attention span

description: Reduced attention span characterized by distractibility and impulsivity.


name: Patchy sclerosis of middle phalanx of finger

description: Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand.


Short humerus

description: Underdevelopment of the humerus.


name: Contracture of the metacarpophalangeal joint of the 4th finger

description: Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue.


Interrupted aortic arch type A

description: Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.


name: Abnormal proportion of unswitched memory B cells

description: A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells.


name: Abnormal circulating calcium-phosphate regulating hormone concentration

description: Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.


congenital genu recurvatum

description: An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.


Genital neoplasm

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


Pseudoepiphysis of the 3rd metacarpal

description: The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.


Brachycephaly

description: An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.


name: Decreased circulating ACTH concentration

description: The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation.


Scrotal hyperpigmentation

description: Increased pigmentation (skin color) of the scrotum.


Psychic epileptic aura

description: Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.


Subpleural honeycombing

description: So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space.


Uplifted earlobe

description: An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.


Monotonic speech

description: A speech pattern characterized by an abnormal lack of tone in the voice.


name: Reduced circulating cortisol-binding globulin concentration

description: The concentration of cortisol-binding globulin in the blood circulation is below the lower limit of normal.


name: Decreased proportion of naive CD8 T cells

description: An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.


Episodic quadriplegia

description: Intermittent episodes of paralysis of all four limbs.


Freckled genitalia

description: One or more brown punctate macules on the skin of the genitalia.


name: Arcuate artery intima/media arteriosclerosis

description: Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina.


Abnormal buccal mucosa morphology

description: An abnormality of a buccal mucosa.


name: Grade IV preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.


name: Hypertension resistant to conventional therapy

description: Resistant hypertension is defined as above-goal elevated blood pressure in a patient despite the concurrent use of 3 antihypertensive drug classes, commonly including a long-acting calcium channel blocker, a blocker of the renin-angiotensin system (angiotensin-converting enzyme inhibitor or angiotensin receptor blocker), and a diuretic.


Recurrent hypoglycemia

description: Recurrent episodes of decreased concentration of glucose in the blood.


name: Osteolytic defects of the proximal phalanx of the hallux


Hypotriglyceridemia

description: An decrease in the level of triglycerides in the blood.


focal hand dystonia

description: A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions.


name: Aplasia of the proximal phalanx of the 2nd finger

description: Absence of the proximal phalanx of the 2nd finger.


Anti-transglutaminase 6 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6.


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

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe.


Delayed vertebral ossification

description: A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age.


name: Abnormal posterior cranial fossa morphology

description: An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.


Decreased Achilles reflex

description: Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.


Dysplastic iliac wing

description: A general term that describes a congenital defect in the iliac wing resulting from abnormal development.


Elevated dermal desmosine content

description: An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin.


Tented philtrum

description: Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.


Hypomagnesiuria

description: An decreased concentration of magnesium the urine.


name: Plantar crease between first and second toes

description: The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe.


name: Double inlet to single ventricle with two atrioventricular valves


name: Focal sensory seizure with vestibular features

description: A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation.


name: Aplasia/Hypoplasia involving the shoulder musculature

description: Absence or underdevelopment of the muscles of the shoulder.


Vivid hallucination

description: Perceptual experiences that are vivid, intense, and sensory in nature occur in the absence of corresponding stimuli from the external environment.


Lumbar hemivertebrae

description: Absence of one half of the vertebral body in the lumbar spine.


Prolinuria

description: Level of proline in the urine anove the upper limit of normal.


Severe postnatal growth retardation

description: Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.


Small toe

description: Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual.


Short middle phalanx of the 2nd finger

description: Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.


Reduced brain lactate level by MRS

description: A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).


Nonossified fifth metatarsal

description: The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.


Elevated urinary S-sulfocysteine level

description: Level of S-sulfocysteine high in urine above the upper limit of normal.


Hyperoxemia

description: An abnormally high level of blood oxygen.


Abnormal CSF ornithine concentration

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


Proximal muscle weakness in upper limbs

description: A lack of strength of the proximal muscles of the arms.


name: Triangular shaped distal phalanx of the hallux


Radial bowing

description: A bending or abnormal curvature of the radius.


Abnormal bone ossification

description: Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.


name: Cortical radial artery intima/media multilamellation

description: Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers.


Absent keratohyalin granules

description: Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin.


Easy fatigability

description: Increased susceptibility to fatigue.


Lafora bodies

description: An intraneuronal inclusion body composed of acid mucopolysaccharides.


name: Uric acid urolithiasis independent of gout


name: Fractured proximal phalanx of manual digit 1

description: A partial or complete breakage of the proximal phalanx of manual digit 1.


Gastric pseudomass

description: At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass.


Ectopic accessory finger-like appendage

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


Perilobar nephrogenic rest

description: A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.


Abnormal terminal:vellus ratio

description: A deviation from the normal proportion of terminal to vellus hairs.


Abnormality of vitamin metabolism

description: An anomaly in the metabolism of a vitamin.


EEG with periodic abnormalities

description: Periodically recurring abnormalities in the EEG.


Nausea and vomiting

description: Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.


Cerebral hypoplasia

description: Underdevelopment of the cerebrum.


Perianal abscess

description: The presence of an abscess located around the anus.


name: Sclerosis of the proximal phalanx of the 4th finger


Early onset absence seizures

description: Typical absence seizures starting before the age of 4 years.


description: Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause.


Perioral spasm

description: A sudden involuntary contraction of the musculature surrounding the mouth.


Perilobar nephroblastomatosis

description: Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar).


name: Abnormal circulating purine concentration

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


Radioulnar subluxation

description: Partial dislocation of the radioulnar joint.


Elevated urinary thymidine level

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


Elevated urine succinic acid level

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


Cephalohematoma

description: Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.


Mesangial microfibril deposition

description: Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins.


Decreased adipose tissue around neck

description: Reduced amount of adipose tissue in the region of the neck.


dentin dysplasia type I

description: Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.


Cerebral hyaline bodies

description: Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance.


Abnormal CSF protein concentration

description: Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.


Abnormal germ cell morphology

description: Any structural anomaly of a reproductive cell.


Patchy palmoplantar hyperkeratosis

description: A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.


Elevated urinary quinolinic acid level

description: The amount of quinolinic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Quinolinic acids is a pyridinedicarboxylic acid that is pyridine substituted by carboxy groups at positions 2 and 3. It is a metabolite of tryptophan.


name: Abnormal circulating creatinine concentration

description: An abnormal concentration of creatinine in the blood.


Intracranial neurenteric cyst

description: A neurenteric cyst located within the skull.


Irregular epiphyses of the 2nd finger

description: Irregular radiographic opacity of the epiphyses of the 2nd finger.


Toe pain

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


Adrenal gland agenesis

description: Absent development of the adrenal gland.


Increased urinary hypoxanthine level

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


Squared superior portion of helix

description: Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.


Nasal mucosa telangiectasia

description: Telangiectasia of the nasal mucosa.


Type V atherosclerotic lesion

description: Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant.


name: Anti-alanyl-tRNA synthetase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against alanyl-tRNA synthetase.


triatrial heart

description: A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities.


description: Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.


name: Contracture of the distal interphalangeal joint of the 4th toe

description: The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively.


EEG with continuous slow activity

description: EEG showing diffuse slowing without interruption.


Prominent digit pad

description: A soft tissue prominence of the ventral aspects of the fingertips or toe tips.


Impairment of fructose metabolism

description: An impairment of a fructose metabolic process.


Abnormal pancreatic duct morphology

description: Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum.


name: Abnormality of the epiphysis of the middle phalanx of the 5th finger

description: Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.


Trichoschisis

description: Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft.


name: Prominent proximal interphalangeal joints


Gastrostomy tube feeding in infancy

description: Feeding problem necessitating gastrostomy tube feeding.


name: Enlarged epiphyses of the phalanges of the hand

description: Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.


name: EEG with photoparoxysmal response grade II

description: Occurence of epileptiform discharges in occipital and central regions during photic stimulation.


Abnormal urinary organic compound level

description: The amount of an organic compound in the urine, normalized for urine concentration, is outside the limits of normal. An organic compound is defined here as a chemical compound that contains a carbon-hydrogen or carbon-carbon bond, although some other definitions exist. Examples of organic compounds includea alkanes, alkenes, alkynes, aromatic compounds, alcohols, ketones, aldehydes, carboxylic acids, and esters.


Tubulointerstitial fibrosis

description: A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.


Acral blistering

description: Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).


name: Abnormal proportion of CD8-positive T cells

description: Any abnormality in the proportion of CD8 T cells relative to the total number of T cells.


name: Partial right sided absence of pericardium

description: A congenital anomaly with lack of part of the pericardium on the righthand side of the heart.


Abnormal limb epiphysis morphology

description: An anomaly of one or more epiphyses of a limb.


1-4 finger syndactyly

description: Syndactyly with fusion of fingers one to four.


Spinal epidural abscess

description: Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect of the abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina.


name: Aplasia of the distal phalanx of the hallux


name: Focal aware emotional seizure with agitation

description: Focal emotional seizure with agitation in which awareness is retained throughout.


name: Absent bronchoalveolar dimeric surfactant-protein B

description: Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid.


Elevated urinary homogentisic acid

description: An increased amount of homogentisic acid in the urine.


Fractured tibia

description: A partial or complete breakage of the tibia.


name: Increased circulating isovaleric acid concentration

description: Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration.


Clouston syndrome

description: Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.


Gallbladder wall thickening

description: Abnormal increased in the thickness of the wall of the gallbladder.


Prominent metopic ridge

description: Vertical bony ridge positioned in the midline of the forehead.


name: Sclerosis of the distal phalanx of the 3rd toe

description: An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


name: Urinary excretion of sialylated oligosaccharides

description: Excretion of oligosaccharides conjugated to sialic acid in the urine.


Abnormal uterus morphology

description: Any anomaly of the structure of the uterus


name: Abnormal circulating albumin concentration

description: Deviation from normal concentration of albumin in the blood.


Splenogonadal fusion

description: Joining of the spleen and a gonad during embryological development.


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

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


Exstrophy

description: Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.


Fixation-off epileptiform discharges

description: Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG).


Female hypogonadism

description: Decreased functionality of the female gonads, i.e., of the ovary.


argininosuccinic aciduria

description: Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.


Ivory epiphyses of the 4th finger

description: Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Abnormal hypnopompia

description: Abnormal transition of consciousness from sleeping to wakefulness.


name: Partial duplication of the proximal phalanx of the 3rd toe

description: Partial duplication of proximal phalanx of third toe.


Microcephalic sperm head

description: Decreased size of the head of sperm.


Anti-H4 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against histone H4.