Encephalocele

description: A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.


Oligodontia of primary teeth

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

description: Reduced number of primary teeth.


trigger thumb

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

description: A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58).


Absent aortic valve cusps

description: A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.


name: Abnormal small intestinal villus morphology


Calcaneonavicular fusion

description: Synostosis of the calcaneus with the navicular bone.


Nocturia

description: Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.


Abnormal inferior vena cava morphology

description: Any structural anomaly of the principal vein draining blood from the lower portion of the body.


Mucosal telangiectasiae

description: Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.


Reduced CSF asparagine concentration

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


name: Elevated circulating octenoylcarnitine concentration

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


Bilateral vocal cord paresis

description: Decreased strength of the vocal fold on both sides.


Globus pallidus calcification

description: Pathological deposition of calcium salts in the globus pallidus.


Chronic axonal neuropathy

description: An abnormality characterized by chronic impairment of the normal functioning of the axons.


Spinal neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine.


Cerebral artery calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery.


Calcification of falx cerebri

description: The presence of calcium deposition in the falx cerebri.


name: Fractured distal phalanx of manual digit 2

description: A partial or complete breakage of the distal phalanx of manual digit 2.


EEG with generalized polyspikes

description: EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.


Increased urinary porphobilinogen

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


name: Elevated urinary 2-methyl-3-hydroxybutyric acid level

description: The amount of 2-methyl-3-hydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Renal arteriole intima/media amyloidosis

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


Perinephric fluid collection

description: An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography.


Labiomental fasciculations

description: Fasciculations affecting the tongue muscle and the musculature of the chin.


name: Short chordae tendineae of the tricuspid valve

description: Abnormally short chordae tendineae of the tricuspid valve.


name: Glomerular endocapillary foam-cell hypercellularity

description: Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space.


Toe syndactyly

description: Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".


Abnormality of ophthalmic artery

description: Abnormality of the first branch of the internal carotid artery.


Abnormal sperm morphology

description: A structural anomaly of sperm.


Rectal atresia

description: A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.


name: Increased circulating myristoleate level

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


Diastema

description: Increased space between two adjacent teeth in the same dental arch.


hydatidiform mole

description: A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes.


name: Segmental glomerulosclerosis away from the vascular and tubular poles

description: Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.


Acute constipation

description: Constipation of sudden onset and lasting for less than three months.


name: Cortical radial artery foam cell hypercellularity

description: A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney.


name: Elevated urinary N-carbamoyl-beta-alanine level

description: The amount of N-carbamoyl-beta-alanine present in urine, when adjusted for urine concentration, is above the upper limit of normal.


Hepatic arteriovenous malformation

description: A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the liver.


name: Juvenile type ovarian granulosa cell tumor

description: Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type.


Medially deviated second toe

description: Medial deviation of the second toe.


Sparse facial hair

description: Reduced number or density of facial hair.


multiple epiphyseal dysplasia

description: Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6.


Pineal cyst

description: A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.


Chronic CSF lymphocytosis

description: Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.


Common carotid artery aneurysm

description: An abnormal widening (dilatation) of the common carotid artery.


Delusion of persecution

description: False beliefs or perceptions in which a person believes that they are being treated with malicious intent, hostility, or harassment - despite significant evidence to suggest otherwise.


Pneumobilia

description: Accumulation of gas in the biliary tree.


Fractured ilium

description: A partial or complete breakage of the ilium.


Abnormality of the middle ear ossicles

description: An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).


Abnormal infraorbital artery morphology

description: An abnormality of an infraorbital artery.


Tuberous xanthoma

description: A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.


Focal pedal automatism seizure

description: A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.


Abnormal emotion

description: Abnormalities in the intensity, frequency, or duration of emotional experiences.


name: Elevated circulating tetradecenoylcarnitine concentration

description: The concentration of tetradecenoylcarnitine (C14:1) in the blood circulation is above the upper limit of normal.


galactosemia

description: Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form.


name: Swollen achromatic neurons in the cerebral cortex

description: The presence of enlarged and swollen neurons that lack Nissl bodies (the rough endoplasmic reticulum-achromasia refers to neurons that lack Nissl bodies) in the cortex of the brain.


Chaddock reflex

description: A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract.


generalized lipodystrophy

description: Almost complete absence of subcutaneous and/or visceral adipose tissue.


name: polymicrogyria, bilateral perisylvian, X-linked

description: A type of perisylvian polymicrogyria that affects both sides of the brain.


Cellular urinary casts

description: A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells).


Abnormal heart valve physiology

description: Any functional abnormality of a cardiac valve.


description: Abnormality of the twelfth cranial nerve.


bursitis

description: Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin.


name: Vascular granular osmiophilic material deposition

description: Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.


twin to twin transfusion syndrome

description: Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated


name: Congenital sensorineural hearing impairment

description: A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.


trigonocephaly 1

description: Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.


neuritis

description: A neuropathy arising from inflammation of one or more nerves.


name: Abnormality of somatosensory evoked potentials

description: An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.


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


Continuous heart murmur

description: A murmur that occurs in both systole and diastole.


Symptomatic seizures

description: A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.


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

description: Partial or complete duplication of middle phalanx of fourth toe.


name: Diminishment of interpersonal communication

description: A reduction in the tendency of a person to share information or emotions compared to that person's previous norms.


Synkinesis

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


Thickened skin

description: Laminar thickening of skin.


name: Aplasia/Hypoplasia of the fifth metatarsal bone


name: Elevated circulating 27-hydroxycholesterol concentration

description: The concentration of 27-hydroxycholesterol in the blood circulation is above the upper limit of normal.


Complete cleft of the upper lip

description: Cleft of the upper lip that starts from the bottom of the upper lip and reaches the nasal cavity.


name: Thyrotoxicosis from ectopic thyroid tissue


name: Elevated urine 4-methyl-2-oxopentanoic acid level

description: Increased amount of 4-methyl-2-oxopentanoic acid in the urine.


Perineal hemangioma

description: Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.


Abnormal chorion morphology

description: Any structural anomaly of the fetal part of the placenta, which is known as the chorion.


Decreased urinary biopterin level

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


name: Extra-axial cerebrospinal fluid accumulation

description: An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.


name: Fractured middle phalanx of pedal digit 3

description: A partial or complete breakage of the middle phalanx of pedal digit 3.


Villous hypertrophy of choroid plexus

description: Overgrowth of the choroid plexus.


Increased heart rate variability

description: Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.


Juvenile aseptic necrosis

description: Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.


Abdominal aortic dissection

description: A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers.


name: T cell chronic lymphocytic lymphoma/leukemia

description: A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.


Pulsatile liver

description: Cardiac synchronous pulsation on palpation.


Retropharyngeal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx.


Abnormal oral cavity morphology

description: Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.


limited cutaneous systemic sclerosis

description: Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.


Abnormality of the spleen

description: An abnormality of the spleen.


Short proximal phalanx of the 3rd toe

description: Abnormal reduction in length of proximal phalanx of third toe.


Hydrocolpos

description: Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.


Abnormality of the abdominal organs

description: An abnormality of the viscera of the abdomen.


Harlequin phenomenon

description: The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body.


name: Bilateral superior vena cava with bridging vein


Cardiomyocyte degeneration

description: Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.


Mycobacterium bacteremia

description: Presence of viable mycobacteria in the blood.


name: Cortical radial artery medial hypertrophy

description: Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


Semilobar holoprosencephaly

description: A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.


Single second heart sound

description: The second sound can remain single throughout the respiratory cycle due to either absence of one component or to synchronous occurrence of the two components. Since the pulmonary vascular impedance increases with age, many normal patients over age 50 have a single S2 or at most a narrow physiologic split on inspiration because P2 occurs early. A single second sound, however, is usually due to inability to auscultate a relatively soft pulmonic component. Such inability is rare in healthy infants, children, and young adults and is uncommon even in older persons under good auscultatory conditions using a rigid stethoscopic diaphragm.


blue nevus

description: An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative.


Breast intraductal papilloma

description: Intraductal papilloma is a benign tumor found within breast ducts. The abnormal proliferation of ductal epithelial cells causes growth. A solitary intraductal papilloma is usually found centrally posterior to the nipple affecting the central duct. Multiple intraductal papillomas are located peripherally, found in any breast quadrant affecting the peripheral ducts.


Abnormal skull base morphology

description: An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.


name: Elevated CSF alpha-ketoglutarate concentration

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


xanthomatosis

description: A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells.


Abnormal thymus morphology

description: Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.


name: Symphalangism affecting the proximal phalanx of the 4th toe


2:1 atrioventricular block

description: A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex.


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


Abnormal bronchus morphology

description: Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.


Lambda Bence Jones proteinuria

description: The presence of free monoclonal lambda immunoglobulin light chains in the urine.


Vaginal adenosis

description: Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.


hereditary gingival fibromatosis

description: Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.


combined immunodeficiency

description: A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern.


Subungual hyperkeratosis

description: A thickening of the stratum corneum in the region beneath the nails.


L-shaped kidney

description: A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney.


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


name: Multifocal hypointensity of cerebral white matter on MRI


Hyposmia

description: A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).


Abnormal urinary bile acid level

description: The amount of bile acids in the urine, normalized for urine concentration, is outside the limits of normal.


Abnormal social behavior

description: An abnormality of actions or reactions of a person taking place during interactions with others.


EEG abnormality

description: Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.


Renal tubular epithelial cell apoptosis

description: Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris.


Abnormality of the plantar skin of foot

description: An abnormality of the plantar part of foot, that is of the soles of the feet.


Poor suck

description: An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.


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

description: Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


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

description: Partial duplication of middle phalanx of fourth toe.


infertility disorder

description: Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.


name: Delayed self-feeding during toddler years

description: A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age).


Arterial rupture

description: Sudden breakage of an artery leading to leakage of blood from the circulation.


name: congenital unilateral hypoplasia of depressor anguli oris

description: Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).


name: Neonatal wrinkled skin of hands and feet


Abdominal aortic calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta.


name: Focal impaired awareness non-motor seizure

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


Recurrent viral skin infections

description: Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections.


Perisylvian FDG hypermetabolism

description: 18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure.


congenital adrenal hyperplasia

description: Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease.


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


Abnormal U wave

description: An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.


Appendicular spasticity

description: A type of spasticity that affects one or more limbs (arms or legs).


Urate tophus

description: Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi.


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


Long-segment aganglionic megacolon

description: A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.


Notched T wave

description: A bifid T-wave with a notch duration between the 2 peaks at leasy 0.04 sec and an amplitude at least 0.05 mV.


Perisylvian polymicrogyria

description: Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.


name: Fatigable weakness of respiratory muscles

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


Short phalanx of hallux

description: Underdevelopment (hypoplasia) of a phalanx of big toe.


Pulmonary arteriovenous fistulas

description: A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.


Dysgenesis of the hippocampus

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


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


Erythrodontia

description: Reddish, brown opalescent discoloration of teeth in normal light.


Fetal extra-axial hemorrhage

description: A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space).


Dissociated sensory loss

description: A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.


Parietal hypometabolism in FDG PET

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


Atrophic scars

description: Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.


Potter sequence

description: A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure.


partial motor epilepsy

description: A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles.


Cerebral venous angioma

description: A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.


Aerophagia

description: Repetitive air swallowing and belching and that may result in abdominal distention.


Eosinophilic dermal infiltration

description: Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.


Excessive cleaning

description: Excessive cleaning of surfaces, living space, or environment that is excessive for the situational context.


Abnormal midface morphology

description: An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.


Radial artery aplasia

description: Congenital absence of the radial artery.


Beaked nails

description: Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit.


polydactyly, postaxial, type A1

description: A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.


name: Abnormal medullary peritubular capillary lumen morphology

description: Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney.


midline cervical cleft

description: Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia.


idiopathic anaphylaxis

description: Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.


Carotid sinus syncope

description: An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion.


Acute infectious pneumonia

description: Acute inflammation of the lung due to an infection.


Adenocarcinoma of the intestines

description: A malignant epithelial tumor with a glandular organization that originates in the intestines.


Elevated CSF DOPA concentration

description: Concentration of DOPA (3,4-dihydroxyphenylalanine) in the cerebrospinal fluid above the upper limit of normal.


Abnormality of the head

description: An abnormality of the head.


Tenesmus

description: A repeated, painful urge to defecate without excreting stool.


Tooth avulsion

description: A type of dental trauma characterized by total dislocation of the tooth from its socket.


hematologic disorder

description: A disease involving the hematopoietic system.


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

description: Partial or complete duplication of the middle phalanx of the 5th toe.


Honeycomb palmoplantar hyperkeratosis

description: Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.


Dysgyria with thickened cortex

description: An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria.


Focal cortical dysplasia type Ic

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


Gottron's papules

description: Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints.


endomyocardial fibrosis

description: A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator.


Neurogenic claudication

description: Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine.


Hypsarrhythmia

description: Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).


name: Lower extremity peripheral arterial calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg.


chronic rhinitis

description: Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough.


Absent hippocampal commissure

description: Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum.


Renal salt wasting

description: A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).


name: Cortical peritubular capillary lumen cholesterol emboli

description: Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex 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.


name: Foam cells with lamellar inclusion bodies

description: The presence of foam cells that contain lamellar inclusion bodies.


Carotid paraganglioma

description: A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.


Iliac arterial calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery.


hypogonadism

description: A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation.


Right ventricular regional akinesia

description: A region of the right ventricle exhibits absent contraction (akinesia) compared to the rest of the ventricle.


T-cell acute lymphoblastic leukemia

description: Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)


name: Renal arteriole intima/media crystal accumulation

description: Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney.


Lateral ventricular asymmetry

description: Abnormal difference in size between the left and right lateral cerebral ventricles.


Functional intestinal obstruction

description: The blockage of bowel contents from evacuation; the causes are attributable to non-structural impediments, such as chemical imbalances or the side effects of medications, narcotics in particular.


Persistent head lag

description: The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes.


Hypoplasia of the corpus callosum

description: Underdevelopment of the corpus callosum.


Single umbilical artery

description: Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.


Posterior cerebral artery stenosis

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


name: Focal impaired awareness epileptic spasm

description: A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.


solar urticaria

description: Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation.


name: Abnormal circulating 18-hydroxycorticosterone level

description: Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.


Neck teratoma

description: A teratoma located in the neck.


name: Elevated circulating 17-hydroxyprogesterone concentration

description: An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.


Nightmares

description: Frightening dreams, typically occurring during REM sleep, are normal and common in children under 10. However, they can also impact teenagers and adults.


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


Intratubular leukocyte casts

description: Casts that contain white blood cells and are located within the tubuli of the kidney.


Abnormal leukocyte count

description: Number of leukocytes per volume of blood beyond normal limits.


Arcuate vein lumen cholesterol emboli

description: Needle-like or slit-like clefts within the interior space of arcuate veins 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.


Abnormal abdomen morphology

description: A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.


name: Cone-shaped epiphysis of the distal phalanx of the hallux


2-3-layered lissencephaly

description: Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity.


Arterial dissection

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


name: Abnormally loud pulmonic component of the second heart sound


Abnormality of the mouth

description: An abnormality of the mouth.


name: Prelingual sensorineural hearing impairment

description: A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.


Aplasia/Hypoplasia of the hallux

description: Absence or underdevelopment of the big toe.


Wilson sign

description: Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia.


periventricular leukomalacia

description: Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles.


Sebaceous hyperplasia

description: A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.


Hyaline casts

description: A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.


Widely spaced toes

description: An overall widening of the spaces between the digits.


congenital pseudoarthrosis of clavicle

description: Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.


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

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


meningoencephalocele

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


Duplication of phalanx of hallux

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


Gait disturbance

description: The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.


Renal artery aneurysm

description: Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment.


Inguinal lymphadenopathy

description: Enlarged lymph node located in the inguinal region (groin).


Supraauricular pit

description: Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.


name: Abnormal dermoepidermal hemidesmosome morphology

description: An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.


Reading-induced seizure

description: A seizure precipitated by reading.


Elevated urinary saccharopine level

description: The amount of saccharopine in the urine, when normalized to urine concentration, is above the upper limit of normal.


Renal lymphocytic tubulitis

description: Infiltration of the renal tubular epithelium by lymphocytes.


Recurrent bacterial skin infections

description: Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.


name: Insulin-resistant diabetes mellitus at puberty


Reduced brain glutamate level by MRS

description: An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS).


name: Abnormal cutaneous collagen fibril morphology


Claw toe deformity

description: Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints.


Elevated urinary 4-hydroxybutyric acid

description: An increased amount of 4-hydroxybutyric acid in the urine.


Short second metatarsal

description: Short (hypoplastic) second metatarsal bone.


1-2 toe syndactyly

description: Syndactyly with fusion of toes one and two.


name: Partial left sided absence of pericardium

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


Disseminated dermatophytosis

description: A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs.


Annular cutaneous lesion

description: A lesion of the skin with a ring-like distribution.


Axillary lymphadenopathy

description: Enlarged lymph node located in the axillary region (armpit).


name: progressive familial heart block, type 1A

description: An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block.


name: Abnormal circulating fatty-acid anion concentration

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


Vocal cord paralysis

description: A loss of the ability to move the vocal folds.


Elevated diastolic blood pressure

description: Abnormal increase in diastolic blood pressure.


Abnormal tubulointerstitial morphology

description: An abnormality that involves the tubules and interstitial tissue of the kidney.


Hypomelanotic macule

description: Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.


name: Focal impaired awareness motor seizure with version

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


Tetraparesis

description: Weakness of all four limbs.


name: Thyrotoxicosis with toxic single thyroid nodule


Clitoral hypoplasia

description: Developmental hypoplasia of the clitoris.


Curved proximal phalanx of the 2nd toe

description: A deviation from the normal straight form of the proximal phalanx of the 2nd toe.


Fractured right clavicle

description: A partial or complete breakage of the right clavicle.


Cardiac shunt

description: Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.


name: Abnormal morphology of the great vessels

description: A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.


Increased HDL3c concentration

description: An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.


Bulbar urethral stricture

description: A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis.


name: Focal impaired awareness cognitive seizure with auditory agnosia

description: A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure.


Choroid plexus calcification

description: The presence of calcium deposition in the choroid plexus.


Arcuate artery lumen organized thrombi

description: Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney.


name: Abnormal epidermis stratum granulosum morphology

description: An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum.


name: Symphalangism affecting the proximal phalanx of the 2nd toe


Chvostek sign

description: A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve.


Salivary gland oncocytoma

description: A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria)


Male urethral meatus stenosis

description: An abnormal narrowing of the urethral opening (meatus) of the penis.


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


name: T-wave inversion in the right precordial leads


name: Arcuate artery endoarterial hypercellularity

description: Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney.


name: Developmental stagnation at onset of seizures

description: A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy.


name: Aplasia/Hypoplasia involving bones of the feet


malignant pleural mesothelioma

description: A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive.


ectopia cordis

description: A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations.


cervical vertebral dysplasia

description: Dysplasia of the cervical vertebral column.


Conical tooth

description: An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.


description: Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure.


name: congenital high-molecular-weight kininogen deficiency

description: A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.


name: Focal aware autonomic seizure with pallor/flushing

description: A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure.


name: Triangular shaped proximal phalanx of the 2nd toe


name: Symphalangism affecting the distal phalanges of the toes


Agenesis of maxillary lateral incisor

description: Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.


name: Abnormal superior cerebellar peduncle morphology

description: An anomaly of the superior cerebellar peduncle.


description: Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired.


name: Abnormality of the pulmonary vasculature


Short proximal phalanx of hallux

description: Underdevelopment (hypoplasia) of the proximal phalanx of big toe.


Facial diplegia

description: Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).


Slow-growing hair

description: Hair whose growth is slower than normal.


Small placenta

description: Reduced size of the placenta.


agenesis of cerebral white matter

description: Congenital defect with failure of the development of the cerebral white matter.


No social interaction

description: Lack of intentional participation in interactions with another person.


name: Right ventricular noncompaction cardiomyopathy

description: A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.


Cavum septum pellucidum

description: If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.


name: Focal motor seizure with dysarthria/anarthria

description: A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible.


name: Osteolytic defects of the phalanges of the 2nd toe


name: EEG with generalized slow activity grade 4

description: EEG without electrical activity.


name: Focal aware sensory seizure with somatosensory features

description: A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure.


inappropriate ADH syndrome

description: A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body.


name: Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal


sinusitis

description: An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity.


Astasia

description: A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength.


EEG with focal spike waves

description: EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave.


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

description: Partial or complete duplication of the distal phalanx of fourth toe.


Emotional insecurity

description: A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability, which is perceived as threatening.


Hypoplasia of the ventral pons

description: Underdevelopment of the ventral portion of the pons.


Woolly scalp hair

description: The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.


Hepatomegaly

description: Abnormally increased size of the liver.


Abnormal nail growth

description: Nail whose growth pattern or speed deviates from normal.


Abnormal bleeding

description: An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.


Podagra

description: Gout affecting the Metatarsophalangeal joint of big toe.


Immunologic hypersensitivity

description: Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens.


bladder diverticulum

description: A pouch or sac-like protrusion in the bladder wall.


name: Increased urine phenylacetylglutamine level

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


Pseudobulbar affect

description: Pseudobulbar affect (PBA) is characterized by uncontrolled crying or laughing which may be disproportionate or inappropriate to the social context. Thus, there is a disparity between the patient's emotional expression and his or her emotional experience.


Maternal vascular malperfusion

description: Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities.


Cloacal abnormality

description: A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate.


Polyuria

description: An increased rate of urine production.


ankylosis

description: Fixation and immobility of a joint.


Renal malrotation

description: An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.


aganglionosis, total intestinal

description: A complete lack of ganglia in the intestine. This is an extremely severe form of aganglionosis distinct from Hirschsprung Disease. This is an n-of-1 use case where only one patient or family has been described with this disorder.


Gliosis

description: Gliosis is the focal proliferation of glial cells in the central nervous system.


Elevated hepatic iron concentration

description: An increased level of iron in liver tissues.


laryngeal neoplasm

description: A benign or malignant neoplasm involving the larynx.


Hypogeusia

description: A decreased ability to perceive flavor.


Pretibial myxedema

description: A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet.


Abnormal CSF tryptophan concentration

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


Fractured sternal end of clavicle

description: A partial or complete breakage of the sternal end of clavicle.


name: Symphalangism affecting the distal phalanx of the 2nd toe


Chronic calcifying pancreatitis

description: A form of chronic pancreatitis that is characterized by calcification.


name: Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries

description: A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA).


Cerebellar Purkinje layer atrophy

description: Atrophy of the cerebellum affecting primarily the Purkinje cell layer.


Serrated intestinal polyps

description: The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification.


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


Hypoplastic toenails

description: Underdevelopment of the toenail.


Fetal intraventricular hemorrhage

description: A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain.


Posterior fossa cyst

description: A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.


name: Renal arteriole intima/media coagulative necrosis

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


ganglioneuroblastoma

description: A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular.


myeloid leukemia

description: A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia.


description: Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography.


Darier's sign

description: A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP.


name: Aplasia/Hypoplasia of the phalanges of the hallux


Bilateral cleft palate

description: Nonmidline cleft palate on the left and right sides.


Paradoxical insomnia

description: Paradoxical insomnia is a condition in which individuals with a normal or near-normal sleep macrostructure tend to severely underestimate the quantity and quality of their sleep.


Perioral hyperkeratosis

description: Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth.


name: Abnormal circulating unsaturated fatty acid concentration

description: A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation.


Unilateral vertebral artery hypoplasia

description: Underdevelopment of the vertebral artery on one side.


Breast hypoplasia

description: Underdevelopment of the breast.


Frontotemporal hypertrichosis

description: Excessive, increased hair growth located in the region of the forehead and temple.


Multiple unerupted teeth

description: The presence of multiple embedded tooth germs which have failed to erupt.


Steroetypic movements of face and head

description: Abnormal movements of face and head.


Abnormal jugular venous pressure

description: An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure.


Pituitary spindle cell oncocytoma

description: A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular.


name: Hereditary nonpolyposis colorectal carcinoma


olivopontocerebellar atrophy

description: A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives.


Extrapyramidal muscular rigidity

description: Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).


Long-chain dicarboxylic aciduria

description: An increase in the level of long-chain dicarboxylic acid in the urine.


Abnormal skeletal morphology

description: An abnormality of the form, structure, or size of the skeletal system.


Capillary fragility

description: Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises).


Thin myocardium compact layer

description: Reduced thickness of the outer, dense layer of the myocardium.


Elevated urinary homovanillic acid

description: An increased concentration of homovanillic acid in the urine.


GM1 gangliosidosis

description: A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.


Anteriorly placed anus

description: Anterior malposition of the anus.


Progressive alopecia

description: Progressive loss of hair.


Muscle arteriovenous malformation

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


Neoplasm of the genitourinary tract

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


Ridged nail

description: Longitudinal, linear prominences in the nail plate.


Juxtaductal coarctation of the aorta

description: Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch.


Caput medusae

description: Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins.


latex allergy

description: Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein.


acute myelomonocytic leukemia M4

description: An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)


name: Mediosternal, longitudinal streak of hypopigmentation


leukemia

description: A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years.


bicornuate uterus

description: The presence of a bicornuate uterus.


Renal artery duplication

description: The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body.


name: Mildly reduced left ventricular ejection fraction

description: A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent.


Methylmalonic aciduria

description: Increased concentration of methylmalonic acid in the urine.


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


Focal head nodding automatism seizure

description: A type of focal automatism seizure characterized by involuntary head nodding at onset.


Loud first heart sound

description: Abnormally increased volume of the first heart sound.


Hemifacial spasm

description: Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.


name: Abnormal renal corticomedullary differentiation

description: An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.


Partial absence of foot

description: An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals.


periapical granuloma

description: Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment.


Absent external genitalia

description: Lack of external genitalia in a male or female individual.


Olivary degeneration

description: Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata.


Digital constriction ring

description: A narrow segment of significantly reduced circumference of a digit.


Abnormality of the male genitalia

description: Abnormality of the male genital system.


Thoracic ectopia cordis

description: Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum.


brachydactyly type B1

description: Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene.


Diffuse pulmonary lymphoid hyperplasia

description: Diffuse lymphoid hyperplasia (DLH) describes the pathological entity that lies between follicular bronchiolitis and lymphocytic interstitial pneumonia (LIP). It is pathologically characterized by a diffuse peribronchiolar proliferation of hyperplastic lymphoid follicles (BALT), extended along the lymphatics to involve the interlobular septa and pleura. Unlike LIP, DHL does not show uniform involvement of the alveolar septa.


Abnormal circulating IgA level

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


name: Abnormal amyloid beta peptide CSF concentration

description: Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid.


Flexion contracture of 3rd toe

description: One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively.


Intratubular vancomycin casts

description: Intratubular casts composed of vancomycin aggregates and uromodulin.


name: congenital non-bullous ichthyosiform erythroderma

description: A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.


name: Reduced contraction of the left ventricular apex

description: Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography.


Ocular dyssynergia

description: A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field.


name: Abnormal circulating long-chain fatty-acid concentration

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


Increased caudate lactate level

description: An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging.


Thromboembolic stroke

description: A cerebrovascular accident (stroke) that occurs because of thromboembolism.


1-5 toe syndactyly

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


Recurrent gastroenteritis

description: Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.


Lower limb spasticity

description: Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis


name: Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis

description: A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


juvenile nasopharyngeal angiofibroma

description: Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures.


Abnormal oral morphology

description: Any structural anomaly of the mouth, which is also known as the oral cavity.


Narrow foot

description: A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.


partial atrioventricular canal

description: Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.


name: Papillary dermis eosinophilic hyaline material

description: Accumulation of eosinophilic hyaline material observed around the papillary dermis and the blood vessels located in it. The papillary dermis is the uppermost layer of the dermis. It intertwines with the rete ridges of the epidermis and is composed of fine and loosely arranged collagen fibers.


Abnormal sperm tail morphology

description: A structural abnormality of the sperm tail.


name: Profound sensorineural hearing impairment

description: Complete loss of hearing related to a sensorineural defect.


Elevated pulmonary artery pressure

description: An abnormally elevated blood pressure in the circulation of the pulmonary artery.


name: Left aortic arch with cervical origin of the right subclavian artery


Abnormal cerebral subcortex morphology

description: An abnormality of the cerebral subcortex.


Aggressive behavior

description: Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).


Necrotizing encephalopathy

description: A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue.


Grade I vesicoureteral reflux

description: Vesicoureteral reflux into the ureter only.


Abnormal lymphocyte count

description: Any abnormality in the total number of lymphocytes in the blood.


Myocardial necrosis

description: Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).


Unilateral lump kidney

description: A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly.


Focal aware atonic seizure

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


Pseudo-chilblains on toes

description: Inflammatory chilblain-like nodules on the feet and/or toes.


Abnormal LDL cholesterol concentration

description: Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.


Delayed fracture healing

description: A delay in healing of a fracture past the expected duration.


Multiple bladder diverticula

description: Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder.


Increased urinary taurine

description: Increased concentration of taurine in the urine.


Atrial situs ambiguous

description: Common atrium without defining morphologic features.


Submucous cleft of soft and hard palate

description: Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth.


Low-output congestive heart failure

description: A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes.


name: Abnormal communicative facial expressions

description: Abnormal expressions (movements or position of muscles of the face that convey the emotional state of an individual to observers during social interactions) comprising abnormalities of quantity, range, context-appropriateness, and quality.


Lymphoid nodular hyperplasia

description: Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236).


name: Progressive sensorineural hearing impairment

description: A progressive form of sensorineural hearing impairment.


name: Decreased number of small peripheral myelinated nerve fibers


inherited obesity

description: Abnormally low body weight.


Sertoli cell tumor

description: A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course.


Osteoporosis of vertebrae

description: Osteoporosis affecting predominantly the vertebrae.


Neurofibrillary tangles

description: Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.


Hypoplasia of lymphatic vessels

description: Congenital underdevelopment of lymph vessels.


Incomplete cleft soft palate

description: Cleft soft palate in which the cleft does not go through the entire length of the soft palate, i.e. the cleft does not go from the posterior border of the hard palate until the uvula.


Severe receptive language delay

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


name: Abnormal tubular basement membrane morphology

description: Abnormal structure of the basement membrane of the renal tubulus.


Uterine cyst

description: A closed sack of tissue (cyst) located in the uterus.


name: Elevated aortic transvalvular pressure gradient

description: The gradient (in this case, drop) in pressure across the aortic valve is above the upper limit of normal.


Focal emotional seizure with agitation

description: Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.


lymphoproliferative syndrome

description: A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis).


Spinal lipoma

description: A lipoma that is localized to the spine.


Patchy sclerosis of middle toe phalanx

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


Focal aware cognitive seizure

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


name: Blebbing of apical cytoplasm of renal tubular epithelial cells

description: Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule.


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


Hydromyelia

description: Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.


Lower extremity hypokinesia

description: Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.


Abnormal pineal melatonin secretion

description: An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland.


Intention tremor

description: A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).


High-frequency hearing impairment

description: A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).


Maxillary lateral incisor microdontia

description: Decreased size of the maxillary permanent incisor.


Green teeth

description: A green staining of teeth.


Decreased CSF glutamine concentration

description: Abnormally decreased levels of glutamine in cerebrospinal fluid.


Polyminimyoclonus

description: Minipolymyoclonus or polyminimyoclonus is a hyperkinetic movement disorder phenomenology characterized by intermittent, low-amplitude, arrhythmic movements of the hands, commonly of several fingers, with amplitudes just sufficient to produce visible and palpable movements of the joints. It is mostly noticed while the individual is maintaining a posture (commonly outstretched hands) or during action (especially the initial phase of movement).


Synesthesia

description: A phenomenon whereby stimulation of one sensory or cognitive pathway leads to automatic, involuntary experiences in a second sensory or cognitive pathway. For instance, people with synaesthesia may experience unusual colors, tastes, and other sensations when engaged in everyday activities like reading or listening to music.


Congenital posterior occipital alopecia

description: Loss of hair in the occipital region of the scalp with congenital onset.


name: Permanent junctional reciprocating tachycardia

description: An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction.


Short 3rd toe

description: Underdevelopment (hypoplasia) of the third toe.


Type III atherosclerotic lesion

description: Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions.


name: Focal emotional seizure with fear/anxiety/panic

description: Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.


Flexion contracture of the hallux

description: One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively.


name: Non-convulsive status epilepticus with coma

description: A type of status epilepticus without prominent motor symptoms and in the presence of coma.


polyhydramnios

description: An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm.


name: Abnormal brainstem white matter morphology

description: An anomaly of the white matter of brainstem.


Decreased CSF isoleucine concentration

description: Abnormally decreased levels of isoleucine in cerebrospinal fluid.


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


Diminished motivation

description: A reduction in goal-directed behavior, that is, motivation, is the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.


Ingrown nail

description: Excessive growth of a nail laterally into the nail fold.


name: Thickening of the tubular basement membrane

description: Increase in thickness of the basement membrane of the tubulus of the kidney.


arthritis, sacroiliac

description: Inflammation of the sacroiliac joint, generally accompanied by lower back pain.


Hyperpyrexia

description: An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit).


vulval varices

description: A varicose disease that involves the mammalian vulva.


Biliary tract obstruction

description: Obstruction affecting the biliary tree.


name: Postural hypotension with compensatory tachycardia


Parietal foramina

description: The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.


Criss-cross atrioventricular valves

description: Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis.


name: Increased number of elastic fibers in the dermis

description: An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods.


name: Marked delay in eruption of permanent teeth


name: Pseudoepiphysis of the distal phalanx of the hallux


name: Malignant neoplasm of the central nervous system

description: A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.


quadriplegia

description: Paralysis of all four limbs.


Hemiareflexia

description: Areflexia that is limited to one side of the body.


Cervicomedullary schisis

description: Fissure within the spinal cord of the neck.


Midline hand movements

description: Hand stereotypies within the medial plane of the body.


Maceration

description: A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue.


leiomyoma cutis

description: A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.


Peripheral amyelination

description: Congenital absence of the myelin sheath on a nerve.


Multiple digital exostoses

description: Multiple exostoses originating in the fingers and toes.


Abnormal left atrium morphology

description: Any structural abnormality of the left atrium.


Foot joint contracture

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


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


Focal-onset seizure

description: A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.


Renal tubular epithelial cell swelling

description: Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen.


Focal hemifacial clonic seizure

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


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


ventricular fibrillation

description: A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)


Persistence of primary teeth

description: Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.


White forelock

description: A triangular depigmented region of white hairs located in the anterior midline of the scalp.


histidinemia

description: Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.


Frontoethmoidal meningocele

description: A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones.


Pigment gallstones

description: Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.


follicular infundibulum tumor

description: A tumor involving the follicular infundibulum.


Medial arterial calcification

description: Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries.


Decreased testicular size

description: Reduced volume of the testicle (the male gonad).


Fatigable weakness of skeletal muscles

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


Stiff skin

description: An induration (hardening) of the skin


Abnormal hair pattern

description: An abnormality of the distribution of hair growth.


CNS foam cells

description: The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system.


Pulmonary bulla

description: Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema.


name: Elevated CSF chitotriosidase 1 concentration

description: Increased concentration of chitotriosidase 1 in cerebrospinal fluid.