name: Renal arteriole lymphocyte endoarterial hypercellularity

description: A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen.


Aplasia/Hypoplasia of the 2nd finger

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

description: A small/hypoplastic or absent/aplastic 2nd finger.


Fractured calcaneus

description: A partial or complete breakage of the calcaneus.


Anti-GM3 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3.


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


name: Abnormal response to short acting pulmonary vasodilator

description: Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg.


Limb-girdle muscle atrophy

description: Muscular atrophy affecting the muscles of the limb girdle.


name: EEG with irregular generalized spike and wave complexes

description: EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.


Nihilistic delusion

description: A false belief associated with the nonexistence of the "self," specific body parts, or the world.


Papillary renal cell carcinoma type 2

description: A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification.


name: Focal impaired awareness sexual automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset.


Folate deficiency in CSF

description: A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid.


name: Glomerular basement membrane electron dense deposits

description: Electron-dense deposits in the lamina densa with a ribbon or a sausage structure.


Upper limb peromelia

description: Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation.


name: Absent epiphyses of the distal phalanges of the hand


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

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


Abnormality of the outer ear

description: An abnormality of the external ear.


Impaired urinary acidification

description: The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect.


Unilateral vocal cord paresis

description: Decreased strength of the vocal fold on one side.


Abnormal limb bone morphology

description: Any abnormality of bones of the arms or legs.


name: Triangular shaped phalanges of the 3rd toe


name: Stippling of the epiphyses of the 4th finger

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


Increased anti-venom IgE antibody level

description: Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets.


Enlarged sperm head vacuole

description: Increased size of sperm vacuoles, which are surface concavities typically located at the the tip or middle area of sperm heads. According to the WHO Laboratory Manual for the Examination and Processing of Human Semen, sperm head vacuoles are considered abnormal when exceeding 20% of the cross-sectional area of the head. Vacuoles are found in almost all samples with normal sperm morphology; this term applies if the proportion of sperm with abnormally large vacuoles is above the upper limit of normal.


Conical mandibular incisor

description: An abnormal conical morphology of the primary or permanent mandibular incisors.


Orthodeoxia

description: Low level of blood oxygen induced by changing from a recumbent to an upright position.


Air crescent sign

description: A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan.


Overvalued idea

description: An unreasonable and an isolated sustained belief that is maintained with less than delusional intensity (i.e. the person is able is to acknowledge the possibility that the belief may or may not be true). The belief is not of one that is ordinarily accepted by other members of the person's culture or sub-culture.


Abnormality of body height

description: Deviation from the norm of height with respect to that which is expected according to age and gender norms.


Intrapulmonary lobar sequestration

description: A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree.


Carnitinuria

description: An elevated level of carnitine in the urine.


name: Increased anti-alpha-gal IgE antibody level

description: Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat.


Horseshoe kidney

description: A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.


Aplasia/Hypoplasia of the tarsal bones

description: Absence or underdevelopment of the tarsal bones.


X-linked calvarial hyperostosis

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

description: Excessive growth of the calvaria.


Erythematous oral mucosa

description: An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium.


arthrogryposis multiplex congenita

description: Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.


Abnormal liver sonography

description: An abnormal appearance of the liver or any of its components on sonography (ultrasound).


Non-obstructive azoospermia

description: Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.


Abnormality of immune system physiology

description: A functional abnormality of the immune system.


name: Cortical thickening of long bone diaphyses

description: Abnormal thickening of the cortex of the diaphyseal region of long bones.


Agenesis of mandibular premolar

description: Agenesis of mandibular premolar.


Congenital finger flexion contractures

description: Multiple bent (flexed) finger joints that cannot be straightened actively or passively.


Small earlobe

description: Reduced volume of the earlobe.


Periodic limb movements

description: Repetitive limb movements during sleep can affect the quality of your sleep.


Widely patent fontanelles and sutures

description: An abnormally increased width of the cranial fontanelles and sutures.


name: Delayed ossification of vertebral epiphysis

description: A delay in the process of formation and maturation of the epiphysis of one or more vertebrae.


Decreased plasma total carnitine

description: A decreased concentration of total carnitine in the blood.


Anti-PM-Scl antibody positivity

description: Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40.


Fractured patella

description: A partial or complete breakage of the patella.


Abnormal ventriculoarterial connection

description: An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.


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

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


Ivory epiphyses of the 4th toe

description: Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


name: Increased circulating troponin T concentration

description: An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.


Premature epimetaphyseal fusion in ulna

description: Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.


pleomorphic xanthoastrocytoma

description: A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults.


Abnormal pinna morphology

description: An abnormality of the pinna, which is also referred to as the auricle or external ear.


Olfactory hallucination

description: Perception of smell without olfactory stimulus.


name: Abnormal urinary electrolyte concentration

description: An abnormality in the concentration of electrolytes in the urine.


Increased nuchal translucency

description: Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).


Long nasal bridge

description: Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.


Growth arrest lines

description: Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone.


Abnormal iliac artery morphology

description: Any structural anomaly of the iliac artery.


Hypoplasia of the upper arm musculature

description: Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis.


Nasogastric tube feeding in infancy

description: Feeding problem necessitating nasogastric tube feeding.


Renal tubular epithelial cell casts

description: A type of cellular urinary cast composed of renal tubular epithelial cells.


post-traumatic stress disorder

description: An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.


name: Abnormal enteric nervous system morphology

description: A structural anomaly of nerves of the enteric nervous system.


name: Increased anti-parasite IgE antibody level

description: Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii.


pilonidal sinus

description: A hair-containing cyst or sinus, occurring chiefly in the coccygeal region.


name: Fixed splitting of the second heart sound

description: Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration.


Curved distal phalanx of the 2nd finger

description: Curved appearance of the distal phalanx of the 2nd finger.


name: Abnormal glomerular parietal epithelial cell morphology

description: Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole.


name: Decreased size of nasopharyngeal adenoids

description: An abnormal decrease in the size of nasopharyngeal adenoids.


name: Duplication of the distal phalanx of the thumb

description: Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side.


name: Abnormal tricuspid valve leaflet morphology

description: Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve.


Abnormal fetal skin morphology

description: Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


name: Bracket epiphyses of the phalanges of the hand

description: Bracket epiphysis refers to an abnormality 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.


Thick vermilion border

description: Increased width of the skin of vermilion border region of upper lip.


Neuroinflammation

description: Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain.


Illusions due to affect

description: Perceptual distortions or misinterpretations of sensory information arise as a result of the individual's emotional or affective state.


Simple ear

description: The pinna has fewer folds and grooves than usual.


name: Elevated circulating C4 acylcarnitine concentration

description: Concentration of C4 acylcarnitines in the blood circulation above the upper limit of normal. C4 acylcarnitines have a four-carbon acyl chain.


Abnormality of hair pigmentation

description: An abnormality of hair pigmentation (color).


Delayed eruption of teeth

description: Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.


Chronic monilial nail infection

description: Chronic infection of the nails by Candida species.


Carotid artery dilatation

description: A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.


Arcuate artery lumen cholesterol emboli

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


Underdeveloped tragus

description: Decreased posterolateral protrusion of the tragus.


Abnormal CSF lysine concentration

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


Reduced brain choline level by MRS

description: An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).


name: Bracket epiphysis of the proximal phalanx of the 5th finger

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


J-shaped sella turcica

description: A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.


Reticular hyperpigmentation

description: Increased pigmentation of the skin with a netlike (reticular) pattern.


name: Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines


name: Anti-multiple nuclear dots antibody positivity

description: A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells.


Abnormality of the umbilical cord

description: An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.


Hypermanganesemia

description: An elevation above the normal concentration of manganese in the blood.


Clavicular sclerosis

description: An increase in bone density within the clavicle.


name: Punctate periventricular T2 hyperintense foci

description: Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.


Erythema migrans

description: An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).


name: Partial absence of specific antibody response to tetanus vaccine

description: A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.


Abnormal cerebellum morphology

description: Any structural abnormality of the cerebellum.


polymicrogyria

description: A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction.


Elevated urinary glyoxylic acid level

description: The amount of glyoxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. The conjugate base of glyoxylic acid is known as glyoxylate.


2-hydroxyadipic aciduria

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


Abnormal celiac artery morphology

description: An anomaly of the celiac artery.


name: Pseudoepiphysis of the proximal phalanx of the hallux

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


Capillary malformation of the lip

description: A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis.


Accessory cardiac bronchus

description: Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended.


name: Reversed end-diastolic umbilical artery flow

description: An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow).


Palmar edema

description: An abnormal accumulation of fluid beneath the skin on the palm of the hand.


name: Stippled calcification of humeral metaphysis


name: Triangular shaped proximal phalanx of the 3rd finger

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


Interlobular vein intima/media necrosis

description: Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney.


Elevated myocardial native T1

description: Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity.


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


Endogenous lipoid pneumonia

description: A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace.


Type II pneumocyte hypertrophy

description: Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin.


name: Elevated CSF dihydrothymine concentration

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


Lymph node necrosis

description: Areas of necrotic tissue within a lymph node.


incisors, lower central, absence of

description: Agenesis of lower secondary incisor or lower primary incisor.


Pleomorphic cholangitis

description: Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree.


Cystic artery pseudoaneurysm

description: Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue.


embryonal rhabdomyosarcoma

description: A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.


name: Reduced epidermal collagen IV protein expression


teeth present at birth

description: A tooth present at birth or erupting within the first month of life.


name: Decreased platelet thromboxane A2 receptor

description: Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2).


Abnormality of the larynx

description: An abnormality of the larynx.


Abnormal anatomic location of the heart

description: Developmental defect characterized by an anomalous anatomic location of the heart.


orotic aciduria

description: An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.


name: Abnormal platelet alpha granule secretion

description: Abnormal release of alpha granule contents from platelets.


carotid stenosis

description: A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents.


name: Abnormal circulating haptoglobin concentration

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


Anti-titin antibody positivity

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


Symphalangism of the thumb

description: Congenital fusion (ankylosis) of the interphalangeal joint of the thumb.


congenital microgastria

description: Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies.


Bicuspid pulmonary valve

description: The presence of a bicuspid pulmonary valve.


Exercise-induced muscle fatigue

description: An abnormally increased tendency towards muscle fatigue induced by physical exercise.


Joint contracture of the hand

description: Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.


spermatic cord torsion

description: An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue.


name: Diffuse swelling of cerebral white matter


name: Aplasia/Hypoplasia involving the musculature of the extremities


Shortening of all phalanges of fingers

description: Abnormal reduction in length affecting all phalanges.


Sydney crease

description: Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.


Profound hearing impairment

description: A profound (essentially complete) form of hearing impairment.


West syndrome

description: West syndrome (or infantile spasms) is characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.


name: Decreased specific anti-polysaccharide antibody level

description: The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.


Focal aware emotional seizure

description: A focal emotional seizure during which awareness is retained throughout the seizure.


Lateral femoral bowing

description: A lateral bending or abnormal curvature of the femur.


name: Pulmonary interstitial high-resolution computed tomography abnormality

description: High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities.


Symphalangism of the 4th finger

description: Fusion of two or more bones of the 4th finger.


name: Cellular non-specific interstitial pneumonia

description: A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia.


name: Reduced circulating protein Z concentration

description: The concentration of protein Z in the blood circulation is below the lower limit of normal.


name: Shortening of all proximal phalanges of the fingers

description: Congenital hypoplasia of proximal phalanx of finger or all fingers.


Mucinous gastric carcinoma

description: A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor.


Addictive stimulant use

description: Addiction to a stimulant drug is defined as a drug that typically increases alertness, attention, and energy while also elevating blood pressure, heart rate, and breathing.


Eruptive vellus hair cyst

description: A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge.


name: Bullet-shaped proximal phalanx of the 5th 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 proximal phalanx of the 5th finger is affected.


Moderate generalized osteoporosis

description: Moderate osteoporosis.


Organic aciduria

description: Excretion of non-amino organic acids in urine.


name: Abnormality of the epiphysis of the proximal phalanx of the 4th finger


name: Limited mobility of proximal interphalangeal joint


Abnormal urine phosphate concentration

description: An abnormal phosphate concentration in the urine.


name: Elevated CSF D-2-hydroxyglutaric acid concentration

description: The concentration of D-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Increased level of ribitol in urine

description: An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose.


name: Renal cortical interstitial inflammation

description: Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells.


Abnormality of the vasculature

description: An abnormality of the vasculature.


Hypoplastic philtrum

description: Underdevelopment of the philtrum.


embryonal neoplasm

description: A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003


Hyperplasia of the maxilla

description: Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.


Pareidolia

description: Apophenia is a psychological phenomenon in which individuals perceive familiar patterns or meaningful images in random or ambiguous stimuli, such as clouds, shadows, or inanimate objects.


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

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


Central cyanosis

description: Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin.


Anti-factor VIII antibody positivity

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


Abnormal geniohyoid muscle morphology

description: An abnormality of a geniohyoid muscle.


Sclerosis of the carpal bones

description: An elevation in bone density in one or more carpal bones of the hand.


renal dysplasia, bilateral

description: Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.


Conjugated hyperbilirubinemia

description: Abnormally high level of conjugated bilirubin in the blood.


Partial absence of thumb

description: The absence of a phalangeal segment of a thumb.


Global brain atrophy

description: Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.


name: Decreased circulating thyrotropin releasing hormone concentration

description: Concentration of thyrotropin releasing hormone below the lower limit of normal in the blood circulation.


name: Bullet-shaped proximal phalanx of the thumb

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 proximal phalanx of the thumb is affected.


Subjective eidetic images

description: A mental phenomenon is when an individual can vividly visualize or recall visual information from memory with exceptional detail and accuracy. These images are experienced subjectively by the individual, meaning they are not physically present or visible to others.


Renal lymphangiectasia

description: A developmental anomaly of renal lymphatics that results from a failure of the lymphatics to make communication with the rest of the lymph trunks. The abnormal lymphatics thus dilate and form cystic spaces at the renal sinus and in the perinephric space.


description: Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.


Dumbbell-shaped femur

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


Bilobate gallbladder

description: The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.


Nail bed hemorrhage

description: Small areas of bleeding (hemorrhage) under the fingernail or toenail.


Episodic paroxysmal anxiety

description: Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable.


name: Patchy sclerosis of the proximal phalanx of the thumb

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


Ambiguous atrioventricular connection

description: With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle).


dyscalculia

description: A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties.


Anti-HLA-B IgG3 antibody positivity

description: The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).


Diaphyseal sclerosis of the upper limbs

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


Hyperbeta-alaninemia

description: Increased concentration of beta-alanine in the blood.


Stiff hip

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


name: Abnormal small intestinal mucosa morphology

description: A structural anomaly of the mucous lining of the small intestine.


name: Aplasia cutis congenita over posterior parietal area


Maternal seizure

description: A seizure during pregnancy.


Pulmonary perfusion defect

description: Lack of blood perfusion in a specific area of the lung. Pulmonary ventilation (V) and Perfusion (Q) scan, also known as lung V/Q scan, is a nuclear test that uses the perfusion scan to delineate the blood flow distribution and the ventilation scan to measure airflow distribution in the lungs.


Decreased urinary uromodulin level

description: The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is below the lower limit of normal.


name: Abnormal intestinal smooth muscle morphology

description: A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.


iniencephaly

description: Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.


Congenital hypoparathyroidism

description: Deficiency of parathyroid hormone with congenital onset.


Elevated urine mesaconic acid level

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


name: Aplasia/Hypoplasia of the palmar creases

description: Absence or underdevelopment of the palmar creases.


name: Wide epiphyseal plates of the upper limbs


Biconcave vertebral bodies

description: Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.


name: Symphalangism affecting the proximal phalanges of the hand


name: Elevated circulating desmosterol concentration

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


Left axis deviation

description: A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.


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

description: A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


name: Aplasia/Hypoplasia of the middle phalanges of the hand


bilateral generalized polymicrogyria

description: Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.


Pulmonary artery atresia

description: A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.


Lip fissure

description: A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation.


name: Reduced intraepidermal small nerve fiber density

description: Reduced number of small nerve fibers in the skin.


Axial muscle stiffness

description: Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature.


name: Decreased circulating chylomicron concentration

description: Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.


Absent thumbnail

description: Absence of thumb nail.


Short proximal phalanx of toe

description: Developmental hypoplasia (shortening) of proximal phalanx of toe.


Ectopic calcification

description: Deposition of calcium salts in a tissue or location in which calcification does not normally occur.


name: Cone-shaped epiphysis of the middle phalanx of the 5th finger

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


name: Decreased circulating hydroxyproline concentration

description: A decreased amount of hydroxyproline in the blood.


Large fontanelles

description: In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.


Abnormality of somatic nerve plexus

description: Any abnormality of the somatic nerve plexus.


Anti-factor IX antibody positivity

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


name: Abnormal circulating cholesterol concentration

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


name: Aplasia/Hypoplasia of the distal phalanx of the 2nd finger


Amyloidosis of peripheral nerves

description: The presence of amyloid deposition in the nerves of the peripheral nervous system.


name: Decreased circulating dehydroepiandrosterone concentration


name: Abnormal circulating atrial natriuretic peptide pro-hormone concentration

description: The concentration in the blood circulation of atrial natriuretic peptide pro-hormone or one of its processed fragments is outside of the range of normal.


Abnormal conus terminalis morphology

description: Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae).


Abnormal adrenal morphology

description: Any structural anomaly of the adrenal glands.


Duplicated tragus

description: A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus.


Facial synkinesis

description: Unintentional movement in one area of the face produced during intentional movement of another area of the face.


name: Cholesterol emboli within interlobular vein lumen

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


benign cystic nephroma

description: A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid.


Flat occiput

description: Reduced convexity of the occiput (posterior part of skull).


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

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


Curved phalanges of the 4th finger

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


Renal atrophy

description: Atrophy of the kidney.


Generalized abnormality of skin

description: An abnormality of the skin that is not localized to any one particular region.


Impaired vibration sensation at ankles

description: A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.


Panacinar emphysema

description: Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis.


Increased urinary polyhexose

description: An abnormal increase in the concentration of polyhexose in the urine.


name: EEG with photoparoxysmal response grade I

description: Occurrence of epileptiform discharges in occipital regions during photic stimulation.


Abnormal RV/TLC ratio

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


Nasal chondritis

description: Inflammation of the cartilage of the nose.


Social disinhibition

description: A tendency to violate social norms because of a failure to resist temptations or urges in social settings.


Trident pelvis

description: Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident.


Thalamic edema

description: Swelling within the thalamus due to the accumulation of fluid.


Restrictive behavior

description: Behavior characterized by an abnormal limitation to a few interests and activities.


Hypertryptophanemia

description: An increased amount of tryptophan in the blood.


Aplasia/Hypoplasia of the triceps

description: Absence or underdevelopment of the triceps muscle.


name: Delayed early-childhood social milestone development

description: A failure to meet one or more age-related milestones of social behavior.


Abnormal gastrointestinal transit time

description: A deviation from the normal amount of time required for food to pass through the intestines.


Abnormal stool composition

description: Abnormal level of metabolite or other abnormal analyte result in a stool test.


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

description: Failure to increase serum TSH levels in response to a TRH stimulation test.


Brachioradialis hyperreflexia

description: Increased intensity of the brachioradialis reflex.


Ivory epiphyses of the 3rd toe

description: Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


Abnormal neck blood vessel morphology

description: An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.


name: Thickened glomerular basement membranes with electron dense deposits


name: Abnormal proportion of class-switched memory B cells

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


Lower thoracic kyphosis

description: Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.


Myeloschisis

description: The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.


name: Abnormality of the common coagulation pathway

description: An abnormality of blood coagulation, common pathway.


name: Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count

description: A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.


Absent cremaster reflex

description: Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.


Palate telangiectasia

description: The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.


Abnormal metacarpal ossification

description: Any abnormal process of ossification of the metacarpal bones, which normally are each ossified from two centers: one for the body, and one for the head (metacarpal II,III,IV, and V) and one for the body and one for the base (metacarpal I). At the eighth to ninth week of fetal life, ossification commences in the middle of the body. At the third year the distal extremities of the metacarpals of the fingers and the base of the metacarpal of the thumb begin to ossify; they unite with the bodies at about the twentieth year.


Oral cavity telangiectasia

description: Presence of telangiectases in the oral cavity.


name: Mosaic attenuation pattern on pulmonary HRCT

description: A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.


name: Subluxation of the proximal interphalangeal joint of the little finger

description: A partial dislocation of the proximal interphalangeal joint of the little finger.


Truncal titubation

description: Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.


Advanced ossification of the hand bones

description: Ossification of hand bones at an earlier age than normal.


name: Increased circulating purine concentration

description: Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.


Abnormal hand cortical bone morphology

description: An anomaly of the outer shell (cortex) of a hand bone.


Decreased circulating progesterone

description: An reduced concentration of progesterone in the blood.


Tracheal rupture

description: A break or tear in the trachea.


name: Abnormal circulating enzyme concentration or activity

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


Abnormal vas deferens morphology

description: A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.


Anti-GT1a IgG antibody positivity

description: The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.


Polysplenia

description: Polysplenia is a congenital disease manifested by multiple small accessory spleens.


Alkalemia

description: An abnormally high blood pH (usually defined as 7.41 or above).


Intestinal lymphoid nodular hyperplasia

description: A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.


Macrovesicular hepatic steatosis

description: A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.


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


Abnormal finger phalanx morphology

description: Abnormalities affecting the phalanx of finger.


name: Glomerular amyloid subepithelial deposits

description: A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Small pituitary gland

description: An abnormally decreased size of the pituitary gland.


Increased proportion of HLA DR+ T cells

description: An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.


Ulnar bowing

description: Bending of the diaphysis (shaft) of the ulna.


Abnormal lingual artery morphology

description: Any structural abnormality of a lingual artery.


atransferrinemia

description: Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.


Myelin tomacula

description: The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).


name: Granulomatous arteriolitis of the arteriolar intima/media

description: A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.


Visceral epithelial cell hyperplasia

description: Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium.


Agenesis of first permanent molar tooth

description: Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.


name: Focal impaired awareness 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 impaired awareness at some point during the seizure.


name: Abnormality of the epiphyses of the feet

description: Any abnormality of the epiphyses of the feet.


Metabolic ketoacidosis

description: A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.


Bacterial cell casts

description: A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection.


name: spondyloepimetaphyseal dysplasia, Strudwick type

description: A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).


Reduced cooperative play

description: Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5.


Anti-Iglon5 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5).


Gastrointestinal duplication

description: A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.


name: Abnormal morphology of the proximal phalanx of the 3rd toe

description: An anomaly of the proximal phalanx of third toe.


name: Abnormal respiratory epithelium morphology

description: Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.


Absent metacarpal epiphyses

description: Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.


Pulmonary capillary angioectasia

description: Focal accumulation of dilated pulmonary capillaries.


Glomerular proteinuria

description: A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin.


Long thumb

description: Length of the thumb is greater than normal.


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


Dagger-shaped pulp calcifications

description: Dagger-shaped calcifications in the dental pulp.


Kommerell diverticulum

description: Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.


Metastatic angiosarcoma

description: An angiosarcoma that has spread to another anatomical site.


Ectopic respiratory mucosa

description: Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations.


Medium vessel vasculitis

description: A type of vasculitis (inflammation of blood vessel walls) that affects medium-sized blood vessels. By common usage, vasculitis predominantly refers to arterial disease. Medium-sized vasculitis is observed in diseases including polyarteritis nodosa, Kawasaki disease, and cutaneous polyarteritis nodosa.


Abnormal humeral ossification

description: An anomaly of the process of formation of bone in the humerus.


name: Abnormality of the epiphysis of the 5th metacarpal

description: Any abnormality of the epiphysis of the fifth metacarpal bone.


Tachyphagia

description: Excessively rapid eating of food.


alobar holoprosencephaly

description: Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure.


Metaphyseal irregularity

description: Irregularity of the normally smooth surface of the metaphyses.


name: Segmentally thickened glomerular basement membrane

description: Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.


name: Glomerular parietal epithelial cell hyperplasia

description: Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering.


Colonic diverticula

description: The presence of multiple diverticula of the colon.


name: Abnormal cellular immune system morphology

description: An abnormality of the morphology or counts of the cells that make up the immune system.


Abnormal coronary artery origin

description: Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.


Visual sensory seeking

description: Pursuit visual stimulation by looking at specific sights, images, and/or colors that is abnormal in intensity and/or frequency.


Interosseus muscle atrophy

description: Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.


name: Focal cognitive seizure with memory impairment

description: A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia).


osteopetrosis

description: Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs.


Myotonia with warm-up phenomenon

description: Myotonia that occurs after a period of rest and decreases with continuing exercise.


name: Nodular septal thickening on pulmonary HRCT

description: Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa.


Impaired proprioception

description: A loss or impairment of the sensation of the relative position of parts of the body and joint position.


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


Internal notch of the femoral head

description: A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546.


Duplication of thumb phalanx

description: Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Hepatopulmonary fusion

description: Fusion of the liver with the lung.


Vaginal hernia

description: The presence of a hernia of the vagina.


regional odontodysplasia

description: Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.


Abnormal hip bone morphology

description: An abnormality of the hip bone.


Pancreatic hypoplasia

description: Hypoplasia of the pancreas.


name: Abnormal autonomic nervous system morphology

description: A structural abnormality of the autonomic nervous system.


name: Focal cognitive seizure with dissociation

description: A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.


Widened cerebral subarachnoid space

description: An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.


Middle cerebral artery stenosis

description: Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery.


Hypopigmented genitalia

description: Localized or generalized decreased genital pigmentation.


name: Decreased circulating aspartic acid concentration

description: An reduced concentration of aspartic acid in the blood circulation.


name: Diminished prolactin response to thyrotrophin-releasing hormone stimulation

description: The increase in prolactin concentration (PRL) following stimulation with thyrotropin (thyrdoid releasing hormone) as compared to baseline PRL concentration is below the lower limit of normal.


Distal sensory impairment

description: An abnormal reduction in sensation in the distal portions of the extremities.


Elevated CSF fumarate concentration

description: An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid.


name: Lytic defects in metaphyses of the upper limbs


Renal interstitial hemosiderin

description: Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.


Narrow nasal bridge

description: Decreased width of the bony bridge of the nose.


Sclerosis of hallux phalanx

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


Recurrent bronchiolitis

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


name: Elevated circulating deoxypyridinoline concentration

description: An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the blood circulation.


Objectification of others

description: A tendency to interact with others as if they are objects with functional purpose rather than engaging in social/emotional interactions.


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

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


Intercrural pterygium

description: A pterygium (or pterygia) in the intercrural (groin) region.


Absent facial hair

description: Absence of facial hair.


Recurrent urinary tract infections

description: Repeated infections of the urinary tract.


Bifid humerus

description: Clefting affecting the humerus.


Mozart ear

description: A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus.


name: Increased urine hexacarboxylporphyrin level

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


Abnormal muscle physiology

description: A functional abnormality of a skeletal muscle.


Additional crus of antihelix

description: Supernumerary ridge or crus of the ear arising from the antihelix.


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


Ovotestis

description: A gonad that contains both ovarian follicles and testicular tubular elements.


Abnormal circulating inhibin level

description: Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.


name: Abnormal circulating C-peptide concentration

description: An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.


Phantosmia

description: Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor.


name: Elevated circulating methylmalonylcarnitine concentration

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


Bullet-shaped distal toe phalanx

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


2,8-dihydroxyadenine crystalluria

description: The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals.


name: Coarctation of the descending aortic arch

description: Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.


Podocyte myelin figures

description: Lamellated intracytoplasmic lipid inclusions within podocytes.


Mosaic attenuation pattern in lung

description: Mosaic attenuation pattern in the lung is a term used to describe regions of differing pulmonary attenuation on CT imaging. It is a non-specific finding, although is associated with several conditions such as obstructive small airway disease, occlusive vascular disease (in which case is called mosaic perfusion pattern), pulmonary edema, and parenchymal diseases.


Spontaneous pain sensation

description: Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.


Abnormal bone structure

description: Any anomaly in the composite material or the layered arrangement of the bony skeleton.


name: Elevated circulating glycolate concentration

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


Spastic tetraparesis

description: Spastic weakness affecting all four limbs.


Increased CSF ribose concentration

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


name: Symphalangism affecting the middle phalanx of the 3rd toe


name: Increased amyloid beta 40 peptide CSF concentration

description: An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF).


name: Decreased circulating androstenedione concentration

description: Reduced concentration of androstenedione in the blood circulation.


Alcohol-induced rhabdomyolysis

description: Rhabdomyolysis induced by intake of alcohol.


Small basal ganglia

description: Decreased size of the basal ganglia.


Short 4th metacarpal

description: Short fourth metacarpal bone.


name: Posterior scalloping of vertebral bodies

description: An excessive concavity of the posterior surface of one or more vertebral bodies.


Clubbing

description: Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.


Papillary cystadenoma of the epididymis

description: A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.


Elevated urinary deoxyuridine level

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


Peau d'orange

description: Swelling and dimpling of the surface of the skin, which is typically associated with carcinoma of the breast.


Proximal radial head dislocation

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


Renal arteriole medial atrophy

description: Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney.


Generalized-onset epileptic spasm

description: A type of epileptic spasm of generalized onset.


description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2).


Frontalis muscle weakness

description: Reduced strength of the frontalis muscle (which is located on the forehead).


name: seizures-intellectual disability due to hydroxylysinuria syndrome

description: Seizures-intellectual disability due to hydroxylysinuria syndrome is characterized by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.


Addictive sex behavior

description: Inability to control or manage sexual urges, fantasies, or behaviors that impair one's ability to function.


name: Aplasia/hypoplasia of the proximal phalanx of the 3rd toe

description: Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe.


Celiac artery dissection

description: A separation (dissection) of the layers of the celiac artery wall.


name: Increased circulating arachidonic acid concentration

description: An increased circulation of arachidonic acid in the blood circulation.


Vaginal atresia

description: Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.


Urinary bladder neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) located in the urinary bladder.


Abnormal fourth toe morphology

description: An anomaly of the fourth toe.


Severe expressive language delay

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


name: Right aortic arch with retroesophageal diverticulum of Kommerell

description: Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch.


Abnormality of the premaxilla

description: An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.


Distal upper limb muscle weakness

description: Reduced strength of the distal musculature of the arms.


Prenatal movement abnormality

description: An abnormality of fetal movement.


Aplasia of the bladder

description: Aplasia (absence) of the urinary bladder.


Abnormal natural killer cell physiology

description: A functional anomaly of the natural killer cell.


Increased serum serotonin

description: A increased concentration of serotonin in the blood.


name: Abnormal large intestinal mucosa morphology

description: A structural anomaly of the mucous lining of the large intestine.


name: Cortical radial artery medial/intimal arteriitis

description: Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney.


name: Increased pulmonary capillary wedge pressure

description: Pulmonary capillary wedge pressure (PCWP) above 15mmHg.


Limited knee flexion/extension

description: A limited ability of the knee joint to perform extension and flexion.


name: Focal hypointensity of cerebral white matter on MRI


name: Elevated circulating hexacosanoic acid concentration

description: Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation.


name: Focal aware emotional seizure with laughing

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


Moderate receptive language delay

description: A moderate delay in the acquisition of the ability to understand the speech of others.


Common atrium

description: Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.


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

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


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


Abnormal pulmonary fissure morphology

description: An abnormal form or number of the pulmonary fissures.


topographical agnosia

description: An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognize objects.


Neurodevelopmental delay

description: Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.


Calcaneovalgus deformity

description: This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).


spasmodic dystonia

description: A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.


Increased glucagon level

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


Bile duct proliferation

description: Proliferative changes of the bile ducts.


Persistent falcine venous sinus

description: A falcine sinus that does not involute but persists beyond birth is defined as a persistent falcine sinus. In the 20-mm embryo stage, the primitive falx cerebri contains the sagittal plexus, a meshwork of anastomotic venous channels from which the superior sagittal sinus and straight sinus are thought to develop. A persistent falcine sinus represents a persistent channel of the caudal anastomotic loops of the sagittal plexus.


specific learning disability

description: Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)


colpocephaly

description: Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.


Large carpal bones

description: Increased size of carpal bones.


Bent sperm neck

description: Sharply angled insertion of the neck and midpiece into the head of a spermatozoon. This term applies if the proportion of spermatozoa with this feature is above the upper limit of normal.


Anti-factor H antibody positivity

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


scapuloperoneal myopathy

description: A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.


Primary microcephaly

description: Head circumference below 2 standard deviations below the mean for age and gender at birth.


Abnormal acetabulum morphology

description: An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.


name: High nonceruloplasmin-bound serum copper

description: An increased concentration of non ceruloplasmin bound copper in the blood.


odontogenic neoplasm

description: A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain.


name: Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells

description: An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.


Enlarged thumb epiphysis

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


Glabellar reflex

description: A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign.


name: Left superior vena cava draining to coronary sinus

description: A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.


description: Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body symmetrically.


name: Complete duplication of the proximal phalanx of the 4th toe


Gastric hypertrophy

description: Hypertrophy of the stomach.


name: EEG with generalized polymorphic epileptiform discharges

description: Generalized epileptiform discharges of different shapes and frequencies.


name: hypothyroidism, congenital, nongoitrous, 2

description: A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13.


Decreased circulating 12-HETE

description: A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.


Mesangial Immune complex deposition

description: Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit.


Absent lanugo

description: Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby.


name: Anti-neurofascin 186 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186.


name: Failure to elevate ammonia on ischemic exercise

description: Normal subjects display an increase in the concentration of ammonia in the blood following an ischemic exercise test. This term refers to an increase in ammonia that is below the lower limit of normal.


Increased proportion of naive B cells

description: An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.


name: Anomalous origin of the left anterior descending artery from the pulmonary artery

description: The left anterior descending artery (LAD) branches off from the pulmonary artery.


Abnormality of the sphenoid sinus

description: An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone.


name: Abnormal liver function tests during pregnancy


name: Duplication of the phalanges of the 2nd toe

description: Partial or complete duplication of a phalanx of second toe.


Increased serum estrone

description: An elevation above normal limits of the concentration of estrone in the circulation.


name: Focal impaired awareness sensory seizure with auditory features

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


Focal aware hyperkinetic seizure

description: A type of focal hypermotor seizure during which awareness is fully retained throughout.


Antigliadin antibody positivity

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


Intrahepatic bile duct cysts

description: The presence of cyst of the intrahepatic bile duct.


Abnormal ciliary motility

description: Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.


Abnormality of the hand

description: An abnormality affecting one or both hands.


Enhancement of the C-reflex

description: Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.


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

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


name: central nervous system primitive neuroectodermal neoplasm

description: A neuroectodermal tumor that involves the central nervous system.


Abnormal pulmonary valve physiology

description: Any functional anomaly of the pumonary valve.


Nervous tissue neoplasm

description: A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).


name: Abnormality of the epiphyses of the 5th finger

description: Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger.


Abnormal hippocampus morphology

description: Any structural anomaly of the hippocampus,


name: Decreased circulating thrombopoietin concentration

description: Concentration of thrombopoietin in the blood circulation below the lower limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes.


Abnormal ankle morphology

description: A structural anomaly of the ankle.


Urethral valve

description: The presence of an abnormal membrane obstructing the urethra.


Supernumerary spleens

description: The presence of two or more accessory spleens.


name: Abnormality of the internal auditory canal

description: An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.


Decreased serum estrone

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


Confusional arousal

description: A nocturnal episode is characterized by disorientation, grogginess, and, at times, significant agitation upon awakening from slow-wave sleep or following forced awakenings.


name: Medullary peritubular capillary erythrocyte congestion

description: Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open).


Elevated brain glutamine level by MRS

description: An increased in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).


Short sperm flagella

description: Sperm cells with abnormally short flagella.


Abnormality of toe proximal phalanx

description: A morphological anomaly of one or more proximal phalanges of one or more toes.


name: Cleavage at junction of stratum corneum and stratum granulosum

description: Splitting of the skin (cell-cell adhesion of keratinocytes) localized to the interface between the stratum corneum and stratum granulosum layers of the epidermis.


Moderate to late preterm birth

description: Birth at 32 to 36 completed weeks of gestation.


Upper limb undergrowth

description: Arm shortening because of underdevelopment of one or more bones of the upper extremity.


name: Bilateral symmetric neonatal sequential seizure

description: Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs.


Abnormal peristalsis

description: An anomaly of the wave-like muscle contractions of the digestive tract.


encephalomalacia

description: Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation.


Multifocal splenic abscess

description: Multiple abscess lesions in the spleen.


name: EEG with spike-wave complexes (2.5-3.5 Hz)

description: The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).


Generalized osteosclerosis

description: An abnormal increase of bone mineral density with generalized involvement of the skeleton.


Libman-Sacks lesions

description: Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve.


Discolored lateral incisors

description: The presence of discolored lateral incisors.


name: Stippling of the epiphyses of the proximal phalanges of the hand


name: Focal cognitive seizure with deja vu/jamais vu

description: A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.


Short middle phalanx of the 4th toe

description: Developmental hypoplasia of the middle phalanx of fourth toe.


Pseudobulbar signs

description: Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.


Slender middle phalanx of finger

description: Reduced diameter of the middle phalanx of finger.


name: Decreased circulating gonadotropin concentration

description: A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).


Aplasia/Hypoplasia of the middle ear

description: Aplasia or developmental hypoplasia of all or part of the middle ear.


name: Adult onset sensorineural hearing impairment

description: The presence of sensorineural deafness with late onset.


Temporal lobe megalencephaly

description: Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain.


Club-shaped proximal femur

description: An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.


Face of the giant panda sign

description: The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda.


Focal clonic seizure

description: A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.


levocardia

description: A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation.


Absent cervical vertebra

description: A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine.


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

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


name: Cortical radial artery intraluminal organized thrombi

description: Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney.


verruciform xanthoma of skin

description: A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages.


cocaine dependence

description: A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance.


placenta accreta

description: The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)


name: Focal epileptiform discharges with limited propagation to contralateral hemisphere

description: Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.


name: Elevated circulating 3-methyl-2-oxovaleric acid concentration

description: The concentration of 3-methyl-2-oxovaleric acidin the blood circulation is above the upper limit of normal.


Elevated urine propionic acid level

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


name: Abnormality of the first metatarsal bone

description: An anomaly of the first metatarsal bone.


name: Decreased motor nerve conduction velocity

description: A type of decreased nerve conduction velocity that affects the motor neuron.


name: Elevated urinary N,N-dimethylglycine level

description: An increased concentration of N,N-dimethylglycine in the urine.


Abnormal lymph node cell composition

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


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


choanal atresia

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


Decreased CSF histidine concentration

description: Abnormally decreased levels of histidine in cerebrospinal fluid.


Hepatic bridging fibrosis

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


Tented upper lip vermilion

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


Reduced CSF dopamine concentration

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


Food-induced anaphylaxis

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


Pulmonary venous hypertension

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


Increased blood folate concentration

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


Happy demeanor

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


Abnormality of B cell physiology

description: An abnormality of the physiological functioning of B cells.


Abnormality of the clivus

description: An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum.


name: Elevated circulating 3-hydroxybutyryl-carnitine concentration

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


name: Disseminated nontuberculous mycobacterial infection

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


name: Abnormal synaptic transmission at the neuromuscular junction

description: Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.