Patchy sclerosis of thumb phalanx

description: An uneven increase in bone density of one or more of the phalanges of the thumb.


Eosinophilic liver infiltration

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

description: Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.


Isothenuria

description: Inability of the kidneys to produce either concentrated or dilute urine.


name: Reduced epidermal keratin protein expression

description: Amount of one or more keratins in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


name: Stippling of the epiphysis of the distal phalanx of the 4th finger

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


name: Contracture of proximal interphalangeal joints of 2nd-5th fingers

description: Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue.


Exostoses of hand bones

description: Abnormal formation of new bone on the surface of a bone of the hand.


Eyelid myoclonia seizure

description: An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness.


Torn oral frenulum

description: Laceration or tear of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip.


Occipital neuralgia

description: A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side.


Vertebral arch anomaly

description: A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.


Hypophenylalaninemia

description: A decreased amount of phenylalanine in the blood.


description: Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation.


name: Anti-side-chain cleavage enzyme antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583).


Tachyphrenia

description: The sensation that thoughts are moving too quickly.


Peripheral hypomyelination

description: Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.


spinal muscular atrophy, segmental

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


Duodenal stenosis

description: The narrowing or partial blockage of a portion of the duodenum.


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

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


name: Elevated urinary 7-hydroxyoctanoic acid level

description: The amount of 7-hydroxyoctanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormal meningeal morphology

description: An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.


Perivascular cardiac fibrosis

description: A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.


knuckle pads

description: Benign skin fibromas, typically occurring over the small joints of the hands and feet, that are associated with repetitive friction or pressure.


Increased circulating IgG2 level

description: An abnormally increased concentration of the IgG2 subtype in the blood circulation.


Small vessel vasculitis

description: A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.


Synostosis of joints

description: The abnormal fusion of neighboring bones across a joint.


cryoglobulinemia

description: Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause.


Hypoplastic aortic arch

description: Underdevelopment of the arch of aorta.


name: Anti-neutrophil elastase antibody positivity

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


description: Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain.


Anti-lamin A antibody positivity

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


Abnormality of mylohyoid muscle

description: An abnormality of a mylohyoid muscle.


name: Abnormality of circulating catecholamine level

description: An abnormal catecholamine concentration in the blood.


Intestinal edema

description: Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.


tumor of adipose tissue

description: A neoplasm (disease) that involves the adipose tissue.


Problematic alcohol consumption

description: Impaired ability to stop or control alcohol use despite adverse social, occupational, or health consequences.


name: Reduced response to gonadotropin-releasing hormone stimulation test

description: Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels.


name: Focal friction-related palmoplantar hyperkeratosis

description: Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.


EEG with focal slow activity

description: Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy).


Isoleucinuria

description: An increased concentration of isoleucine in the urine.


Macule

description: A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.


Chronic absent circulating total IgG

description: A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured.


Fetal subependymal hemorrhage

description: A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch.


Anarthria

description: A defect in the motor ability that enables speech.


Decreased renal parenchymal thickness

description: Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans.


Acinetobacter infectious disease

description: Infections with bacteria of the genus acinetobacter.


name: Increased CSF homovanillic acid concentration

description: Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.


name: Elevated circulating octanoylcarnitine concentration

description: Concentration of octanoylcarnitine (C8:0) in the blood circulation above the upper limit of normal.


Thoracic hypertrichosis

description: Excessive, increased hair growth located in the thoracic region.


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

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


name: Renal arteriole intima/media storage material accumulation

description: Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney.


Cotton wool plaques

description: Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes.


aortopulmonary window

description: A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery.


Fragile skin

description: Skin that splits easily with minimal injury.


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

description: Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Jerk-locked premyoclonus spikes

description: Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.


Addictive spending behavior

description: An uncontrollable urge to shop and spend money can lead to distress or impairment.


Anti-GQ1b antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.


Pulmonary granulomatosis

description: The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung.


Defective B cell activation

description: A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of


nodular malignant melanoma

description: An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance.


Abnormal ilium morphology

description: An abnormality of the ilium, the largest and uppermost bone of the pelvis.


colloid cysts of third ventricle

description: Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening.


name: Epiphyseal stippling of finger phalanges

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


Abnormal molar morphology

description: An abnormality of morphology of molar tooth.


name: Abnormal diffusion weighted cerebral MRI morphology

description: A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images.


Bilateral cleft lip

description: A non-midline cleft of the upper lip on the left and right sides.


Abnormal radial artery morphology

description: Any structural anomaly of the radial artery.


Abnormal brain morphology

description: A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.


urachal cyst

description: Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever.


Avulsion fractured humerus

description: A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma.


Focal aware sexual automatism seizure

description: A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout.


Microvillus inclusions

description: The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes.


name: Anomalous origin of the right subclavian artery from the descending aorta

description: Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery.


name: EEG with periodic lateralized epileptiform discharges

description: Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds).


Broad-based gait

description: An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.


name: Elevated circulating acetone concentration

description: An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies.


Anticardiolipin IgM antibody positivity

description: The presence of circulating IgM autoantibodies to cardiolipin.


Extramedullary hematopoiesis

description: The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.


Hypoplasia of the premaxilla

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


Generalized hypopigmentation of hair

description: Reduced pigmentation of hair diffusely.


name: Elevated circulating thymidine concentration

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


Solitary bladder diverticulum

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


name: Linear IgA deposits along the epidermal basement membrane zone

description: Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.


name: Elevated urinary mevalonate lactone level

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


Papulovesicular eruption

description: An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point.


Iodine contrast allergy

description: Allergy to iodine contrast media used in radiological studies.


Increased adiponectin level

description: An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.


Abnormal hair quantity

description: An abnormal amount of hair.


gonadoblastoma

description: A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype.


Cerebellar cortical atrophy

description: Atrophy (wasting) of the cerebellar cortex.


name: Abnormal circulating ethanolamine concentration

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


Abnormal pia mater

description: An abnormality of the pia mater.


Hypercitraturia

description: A greater than normal concentration of citrate(3-) in the urine.


Abnormality of the periorbital region

description: An abnormality of the region situated around the orbit of the eye.


mononeuropathy

description: Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions.


name: Absence of intermediate von Willebrand factor multimers

description: Lack of intermediate von Willebrand Factor multimers on gel electrophoresis.


Exploding head syndrome

description: Sleep disorder in which one hears a loud noise or explosive crashing sound in their head. The sound is not real or heard by anyone else. The episode typically happens suddenly, either when beginning to fall asleep or when waking up during the night.


name: Failure to offer information to initiate social interaction

description: An atypically low tendency to offer information as a means to initiate or sustain social interactions or direct another's attention.


Anti-Sm antibody positivity

description: The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles.


didelphys uterus

description: A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.


name: Decreased circulating IgG subclass level

description: A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood.


Hemihypsarrhythmia

description: Hypsarrhythmia occurring in one hemisphere.


name: Deviation of the hand or of fingers of the hand

description: Displacement of the hand or of fingers of the hand from their normal position.


name: Anomalous origin of right pulmonary artery from ascending aorta

description: The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.


Hyperactive Achilles reflex

description: Increased intensity of the Achilles reflex.


Fetal pyelectasis

description: Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.


Accessory oral frenulum

description: Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.


Telangiectasia of the ear

description: The presence of telangiectasia of the ear.


Patchy osteosclerosis

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


Type II pneumocyte hyperplasia

description: Increase in the number of type II pneumocytes.


name: Diminishment of emotional responsiveness

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


Mild oligozoospermia

description: A type of oligozoospermia characterized by a total number of more than 30 but less than 39 million sperm in the ejaculate or a concentration of more than 10 but less than 15 million sperm per milliliter.


Fibrous cardiac diverticulum

description: A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly.


Arterial intimal fibrosis

description: Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries.


Medial calcification of small arteries

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


Sphincter of Oddi dyskinesia

description: Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.


Abnormal cardiac biomarker test

description: Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.


Lower extremity akinesia

description: Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities.


Quadruple gallop rhythm

description: A type of gallop rhythm in which both the third and the fourth sounds are present.


name: Abnormal circulating glucose-6-phosphate dehydrogenase concentration

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


Vaginal stricture

description: A narrowing of the vagina owing to scar formation.


Bronchial telangiectasia

description: Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system.


Acute hepatitis

description: Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders.


Increased factor IX activity

description: Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.


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


Ovarian fibrosis

description: Excessive proliferation of fibroblasts and deposition of extracellular matrix within the ovary.


name: Abnormal circulating alanine concentration

description: An abnormality of an alanine metabolic process.


Amygdala microinfarct

description: An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically.


Deflation of the glomerular tuft

description: Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane.


Median cleft palate

description: Cleft palate of the midline of the palate.


Chronic respiratory acidosis

description: Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L).


Pituitary resistance to thyroid hormone

description: A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal.


Thick upper lip vermilion

description: Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).


Increased circulating IgG level

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


name: Elevated circulating decenoylcarnitine concentration

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


Empty delta sign

description: This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases.


Neuropathic spinal arthropathy

description: A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures.


Lower limb pain

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


Abnormal CSF amyloid concentration

description: Abnormal concentration of amyloid in the cerebrospinal fluid (CSF).


CSF oligoclonal immunoglobulin G bands

description: Oligoclonal immunoglobulin G (IgG) bands (OCBs) are a useful diagnostic tool to detect a central humoral response. In particular, cerebrospinal fluid (CSF)-restricted OCBs represent a hallmark of multiple sclerosis (MS).


name: Perivascular small intestinal hyaline deposition

description: Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the wall of the small intestine.


Periglomerular fibrosis

description: Circumferential fibrosis in the interstitium surrounding Bowman's capsule


Closed comedo

description: A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead.


Abnormal circulating GABA concentration

description: Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation.


Pulmonary artery intimal thickening

description: Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%.


name: Decreased circulating antidiuretic hormone concentration

description: Concentration of antidiuretic hormone, also known as vasopressin, is below the lower limit of normal in the blood circulation.


Renal tubular cyst

description: Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells.


Abnormal skin morphology

description: Any morphological abnormality of the skin.


Reduced terminal:vellus ratio

description: A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.


lymphadenitis

description: Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process.


Anti-GABA(B)R antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R.


Sadness

description: Intense or excessive feelings of unhappiness are often characterized by feeling down, low, unhappy, or sorrowful.


renal aminoaciduria

description: A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved.


Abnormal renal cortex morphology

description: An abnormality of the cortex of the kidney.


infiltrating lipoma

description: A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas.


name: Elevated urinary creatine/creatinine ratio

description: The ratio of creatine to creatinine concentration in the urine is above the upper limit of normal.


Monomorphic ventricular tachycardia

description: A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so).


Abnormal female meiosis

description: Anomalous oocyte meiosis


Depletion of mitochondrial DNA in liver

description: An abnormal reduction in the number of mitochondria in hepatocytes.


Melanonychia

description: Brown or black discoloration of the nails.


Reduced urinary manganese level

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


Oral mucosa nodule

description: A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth.


Hand paresthesia

description: Tingling (often refered to as a pins and needles feeling) and numbness in the hand.


Prolonged whole-blood clotting time

description: An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.


name: Arcuate artery endoarterial leukocyte hypercellularity

description: Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).


Abnormality of mentalis muscle

description: An abnormality of a mentalis muscle.


erythema nodosum

description: A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.


name: Elevated urinary 5-hydroxymethyluracil level

description: The amount of 5-hydroxymethyluracil in the urine, normalized for urine concentration, is above the upper limit of normal.


P mitrale

description: A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II.


name: Abnormal posterior circulating artery morphology

description: Any structural anomaly of the posterior circulating artery (PCOM).


Thin glomerular basement membrane

description: Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs.


Elevated urine N-acetyltyrosine level

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


name: Elevated urinary collagen degradation products

description: Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.


name: Glomerular basement membranes powdery deposit

description: Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane.


Pulmonary artery stenosis

description: An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Fetal ultrasound soft marker

description: An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders.


Cementum hypoplasia

description: The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth.


Upper limb dysmetria

description: A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.


Impaired vibratory sensation

description: A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.


Septic pulmonary embolism

description: Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations.


Asymmetry of the maxilla

description: Asymmetry between the left and right sides of the maxilla.


Renal diverticulum

description: Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system.


name: Type 2 congenital pulmonary airway malformation

description: A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance).


Abnormal globus pallidus morphology

description: An abnormality of the globus pallidus.


Fractured fused metatarsal bones 2-4

description: A partial or complete breakage of the fused metatarsal bones 2-4.


name: Fractured middle phalanx of manual digit 2

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


Suicidal ideation

description: Frequent thoughts about or preoccupation with killing oneself.


Sural nerve atrophy

description: Wasting of the sural nerve, a sensory nerve in the calf region of the leg.


name: Elevated circulating sebacic acid concentration

description: Increased concentration of sebacic acid in the blood circulation.


Biceps hyperreflexia

description: Increased intensity of the biceps reflex.


High pitched voice

description: An abnormal increase in the pitch (frequency) of the voice.


Abnormal pelvic girdle bone morphology

description: An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.


name: Skin dimple over apex of long bone angulation


Abnormality of the testis size

description: An anomaly of the size of the testicle (the male gonad).


name: Anti-SUMO-activating enzyme subunit 2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2.


Abnormal rete ridge morphology

description: Abnormal structure of the rete ridges (also known as rete pegs), which are downward projections of epithelium surrounding the connective tissue papillae in between the dermal papillae.


Elevated urinary pipecolic acid level

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


Oral lichenoid lesion

description: Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions.


name: Generalized reticulate brown pigmentation


Somatic sensory dysfunction

description: An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.


Dilatation of the bladder

description: The presence of a dilated urinary bladder.


name: Reduced circulating matrix metalloproteinase 2 concentration

description: Concentration of matrix metalloproteinase 2 in the blood circulation below the lower limit of normal.


Focal necrotic thalamus lesion

description: A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the thalamus.


Microtia, third degree

description: Presence of some auricular structures, but none of these structures conform to recognized ear components.


Myoglobin casts

description: A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.


Cervical spinal cord atrophy

description: Atrophy of the cervical segment of the spinal cord.


Cold paresis

description: Increased muscle weakness upon exposure to cold temperatures.


Rhabdoid tumor of the ovary

description: A highly aggressive, extremely rare neoplasm of the ovary that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers.


Delayed ability to roll over

description: Delayed achievement of the ability to roll front to back and back to front.


name: EEG with persistent abnormal rhythmic activity


name: Focal impaired awareness emotional seizure

description: A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure.


Coronary sinus enlargement

description: Abnormal increase in size of the coronary sinus.


Increased CSF/serum albumin ratio

description: An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.


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

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


Peroneal muscle weakness

description: Weakness of the peroneal muscles.


Deep-set nails

description: Deeply placed nails.


Renal amyloidosis

description: A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).


Deep plantar creases

description: The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.


Skin vesicle

description: A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.


Impaired touch localization

description: A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip.


Menorrhagia

description: Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.


Cognitive regression

description: Loss of cognitive developmental skills, as manifested by loss of developmental cognitive milestones.


name: hearing loss, mixed conductive-sensorineural

description: Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear.


Decreased circulating cortisol level

description: Abnormally reduced concentration of cortisol in the blood.


Reduced CSF lactate

description: Decreased concentration of lactate in the cerebrospinal fluid.


Psoriasiform lesion

description: A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.


Frontotemporal cerebral atrophy

description: Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.


name: Moderate intrauterine growth retardation

description: Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age.


name: Abnormal umbilical cord blood vessel morphology


Abnormal lymph node morphology

description: A structural lymph node abnormality.


Abnormal renal tubule morphology

description: An abnormality of the renal tubules.


Tearfulness

description: A feeling of sadness characterized by episodes of crying that can occur suddenly and are not easily controlled in social situations.


Hydrophobia

description: The word hydrophobia has been used to describe the avoidance of drinking in the presence of hydrophobic spasms that can be observed in human rabies (described as a blockage in the throat with worsening of dyspnea). However, rarely, the same word has been used to describe panic reactions observed in a patient when offered a glass of water. This term does not refer to the latter meaning.


Abnormality of fluid regulation

description: An abnormality of the regulation of body fluids.


Malposition of the stomach

description: Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation.


Chin with vertical crease

description: Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest.


Thickened glomerular basement membrane

description: Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.


Medial degeneration

description: Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections.


name: Decreased circulating luteinizing hormone level

description: A reduction in the circulating level of luteinizing hormone (LH).


cerebrospinal fluid rhinorrhea

description: Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)


Small intestinal dysmotility

description: Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.


Xerostomia

description: Dryness of the mouth due to salivary gland dysfunction.


Megaduodenum

description: Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.


Abnormal pulse

description: An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart.


Thoracolumbar kyphosis

description: Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.


name: Sclerosis of the distal phalanx of the 5th toe


Addictive nitrous oxide use

description: Addiction to inhaled nitrous oxide gas (N2O) is a growing concern.


Neonatal bilateral clonic seizure

description: Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral.


name: Contracture of the distal interphalangeal joint of the fingers

description: Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.


name: Elevated circulating calcitonin concentration

description: Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal.


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

description: Partial or complete duplication of the third proximal phalanx of hand.


Prominent S wave in lead I

description: Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram.


Forward slanting upper incisors

description: The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards.


name: Abnormal branching pattern of the aortic arch

description: A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries.


name: Duplication of the middle phalanx of the 3rd finger

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


3-Methylglutaric aciduria

description: An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine.


name: Reduced lamina lucida anchoring filament density

description: Diminished amount of the anchoring filaments that normally bridge the lamina lucida and insert into the lamina densa in the cutaneous basement membrane zone.


tonsillitis

description: Inflammation of the tonsillar tissue.


name: Elevated 18-hydroxycorticosterone to aldosterone ratio

description: The relative concentration in the blood circulation of 18-hydroxycorticosterone compared to that of aldosterone is above the upper limit of normal.


name: Abnormal urinary 1-methylhistidine concentration

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


name: Dentinogenesis imperfecta of primary and permanent teeth

description: Developmental dysplasia of dentin or both the primary dentition and the permanent dentition.


Hypoplasia of the tooth germ

description: Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth.


Proprioceptive hallucination

description: A type of hallucination that involves the perception of distorted or abnormal sensations related to one's body position or movement.


Pustular rash

description: A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils.


Sclerosis of distal finger phalanx

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


name: Abnormal circulating corticosterone level

description: An abnormality of the concentration of corticosterone in the blood.


Stasis dermatitis

description: Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus.


name: Increased circulating brain natriuretic peptide concentration

description: An increased concentration of brain natriuretic peptide in the blood circulation.


Atrial cardiomyopathy

description: Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations.


Parietal cortical atrophy

description: Atrophy of the parietal cortex.


mongolian spot

description: A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The color is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot.


name: Multifocal hyperintensity of cerebral white matter on MRI

description: An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas.


3-4 finger cutaneous syndactyly

description: A soft tissue continuity in the A/P axis between fingers 3 and 4.


3-4 toe cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the toes 3 and 4.


Perianal dermatitis

description: The presence of a rash (change of color and texture) of the perianal skin.


name: Abnormal urinary 3-methylhistidine level

description: Abnormal amount of 3-methylhistidine in the urine.


Profound global developmental delay

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


Collectionism

description: Excessive or pathological tendency to save and collect possessions.


Dicarboxylic aciduria

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


Lack of oocyte pronucleus formation

description: An abnormality of oocyte maturation characterized by the inability of oocytes to form pronuclei after in vitro fertilization procedures. Oocytes normally show two pronuclei 17 to 20 hours after in vitro insemination.


Rope sign

description: The presence of linear erythematous palpable cords, often on the lateral trunk.


Mediastinal cystic lymphangioma

description: A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors.


name: Epiphyseal stippling of the first metacarpal

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone.


Hypoproteinemia

description: A decreased concentration of protein in the blood.


Warm reactive autoantibody positivity

description: Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C.


name: Abnormal circulating lipoprotein(a) concentration

description: The concentration of lipoprotein(a) in the blood circulation is outside the limits of normal.


Nocturnal hypoxemia

description: Abnormally reduced oxyhemoglobin saturation during sleep (nocturnal). Different thresholds are used in the literature, including more than 10 percent of total sleep time below a SpO2 of 90 percent.


Increased total bilirubin

description: Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.


Binge drinking

description: A pattern of episodic heavy alcohol use characterized by the consumption of a high number of drinks per occasion.


Gallbladder mass

description: An abnormal lesion or swelling seen on gallbladder imaging.


Pulmonary fat embolism

description: The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung.


Small intestinal bacterial overgrowth

description: An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml.


Psychomotor deterioration

description: Loss of previously present mental and motor abilities.


name: Increased circulating antimullerian hormone concentration

description: An elevation above the normal range of the antimullerian hormone in the circulation.


name: Abnormal circulating free T3 concentration

description: A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3.


Increased proportion of naive T cells

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


Abnormal oxygen level in cord blood

description: An abnormal level of blood oxygen in the cord blood.


name: congenitally corrected transposition of the great arteries

description: Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations.


Bilateral vocal cord paralysis

description: A loss of the ability to move the vocal fold on both sides.


Expiratory crackles

description: Crackles that occur during expiration.


Delusional perception

description: A true perception, to which a patient attributes a false meaning, ranges from experiencing some vague meaning to clear, delusional observations, and expresses delusions of reference.


name: Focal T2 hyperintense basal ganglia lesion

description: A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.


name: Cortical peritubular capillary lumen organized thrombi

description: Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney.


Nocturnal seizures

description: Seizures that occur while the affected individual is sleeping.


spermatogenic failure, Y-linked, 1

description: A decrease in the number of germ cells but all stages of sperm cell development are present.


Abnormal anus morphology

description: A structural anomaly of the anus.


Internal carotid artery dissection

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


name: Excessive skin wrinkling on dorsum of hands and fingers


name: Decreased circulating mannose-binding protein concentration

description: Concentration of mannose-binding protein in the blood circulation below the lower limit of normal.


Mandibular osteolysis

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


Sclerosis of 2nd toe phalanx

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


Agonadism

description: Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).


Presacral ganglioneuroma

description: A gangioleneuroma originating from sympathetic ganglion cells in the abdomen.


Anti-desmoplakin II antibody positivity

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


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

description: An increase in the level of glucose-6-phosphate dehydrogenase in the blood.


Absent pituitary stalk

description: A developmental defect characterized by failure to develop of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.


description: Sweating and flushing in the preauricular area in response to mastication or a salivary stimulus. Facial warmth, flushing, and sweating in the territory of the auriculotemporal nerve overlying the parotid gland, which may include the preauricular skin, the temporal skin, the scalp, and the temporomandibular joint region. Symptoms occur during meals, especially with spicy and sour foods. This feature is inferred to be a consequence of injury to the auriculotemporal nerve, a branch if the trigeminal nerve.


name: Bilateral superior vena cava with no bridging vein


name: Focal cognitive seizure with left-right confusion

description: A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation.


Perianal erythema

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


Enlarged pituitary gland

description: An abnormally increased size of the pituitary gland.


Abnormal cardiac output

description: A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs.


Decreased nerve conduction velocity

description: A reduction in the speed at which electrical signals propagate along the axon of a neuron.


name: Elevated circulating stearoylcarnitine concentration

description: Abnormally increased concentration of O-stearoylcarnitine in the blood circulation.


name: Impaired collagen-related peptide-induced platelet aggregation

description: Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.


Podocyte cytoskeletal condensation

description: Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte.


Gastric duplication

description: Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach.


Muscular ventricular septal aneurysm

description: Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).


Abnormality of cervical plexus

description: Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck.


Cognitive epileptic aura

description: A purely subjective manifestation of an epileptic seizure pertaining to altered cognition.


name: Elevated circulating methylglutarylcarnitine concentration

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


name: Increased urinary squamous epithelial cell count

description: An increased number of squamous epithelial cells per high-power field in urinanalysis.


Macroscopic hematuria

description: Hematuria that is visible upon inspection of the urine.


Cerebellar hemorrhage

description: Hemorrhage into the parenchyma of the cerebellum.


Pancreas divisum

description: A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present.


Oocyte maturation arrest

description: Oocyte maturation arrest (OMA) can manifest as failed in vitro fetilization/intracytoplasmic sperm injection (IVF/ICSI) attempts using affected oocytes.


name: Elevated circulating biliverdin concentration

description: Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation.


Increased glomerular filtration rate

description: An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.


name: Elevated circulating lyso-globotriaosylsphingosine concentration

description: An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation.


Pallor

description: Abnormally pale skin.


Pancolitis

description: Inflammation of the entire colon.


name: Decreased circulating follicle stimulating hormone concentration

description: A reduction of the circulating level of follicle-stimulating hormone (FSH).


Pancreatic cysts

description: A cyst of the pancreas that possess a lining of mucous epithelium.


Intermittent jaundice

description: Jaundice that is sometimes present, sometimes not.


Non-pruritic urticaria

description: Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus.


Ventricular bigeminy

description: An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat.


Periportal emperipolesis

description: The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area.


pulmonary valve stenosis

description: The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.


carotid artery occlusion

description: A occlusion precerebral artery that involves the carotid artery segment.


Rete ridge elongation

description: Increased length of the rete rdiges of the epidermis.


Small cerebral cortex

description: Reduced size of the cerebral cortex.


nodular goiter

description: Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones.


name: Mucinous cystic neoplasm of the pancreas

description: Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma.


Argyrophilic inclusion bodies

description: Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.


Cerebellopontine angle arachnoid cyst

description: An arachnoid cyst located at the margin of the cerebellum and pons.


Aciduria

description: Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.


Tracheal papilloma

description: A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea.


name: Abnormality of anterior ethmoidal artery

description: An abnormality of an anterior ethmoidal artery.


name: Renal interstitial non-necrotizing granulomas

description: Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis.


Exudative pleural effusion

description: A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.


name: Elevated circulating luteinizing hormone level

description: An elevated concentration of luteinizing hormone in the blood.


Enterocutaneous fistula

description: An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin.


Abnormal chylomicron concentration

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


Pollakisuria

description: Increased frequency of urination.


Abnormal vaginal physiology

description: Any anomaly of vagina function.


Abnormal small intestine morphology

description: A structural abnormality of the small intestine.


name: Glomerular hyaline subepithelial deposits

description: A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


name: Abnormal circulating follicle-stimulating hormone concentration

description: An anomaly of the circulating level of follicle-stimulating hormone (FSH).


Ascending aortic dissection

description: A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.


Podocyte infolding

description: Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM.


Abnormal T cell activation

description: Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.


name: Abnormal circulating beta-carotene concentration

description: Any deviation of the concentration of beta-carotene in the blood circulation from the normal range.


balanitis

description: An infectious or non-infectious inflammatory process that affects the glans penis. Symptoms include redness and pain of the glans penis and foreskin and discharge.


Exaggerated facial expression

description: A tendency to make facial expressions that are exaggerated and a failure to make subtle facial expressions in a social context when a subtle expression is more appropriate.


Sigmoid kidney

description: A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation.


name: Abnormal female external genitalia morphology

description: Any structural abnormality of the female external genitalia.


Hemihypertrophy of upper limb

description: Overgrowth of only one arm.


name: Myoclonic status epilepticus without coma

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


name: Response to drugs acting on neuromuscular transmission

description: Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis.


Delayed thelarche

description: Later than normal development of the breasts.


Severe temper tantrums

description: Temper tantrums, which occur with more severe symptomatology compared to a temper tantrum that occurs as a part of normal developmental process.


Limb muscle weakness

description: Reduced strength and weakness of the muscles of the arms and legs.


Ascending aorta hypoplasia

description: Significant luminal narrowing of a long segment of or the entire ascending aorta.


Anti-sp100 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins.


Viral infection-induced rhabdomyolysis

description: Rhabdomyolysis induced by a viral infection.


Hypertrichotic hyperpigmented patch

description: A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth.


name: congenital partial pulmonary venous return anomaly

description: Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea.


Asymmetric bilateral cleft lip

description: Bilateral cleft lip in which the cleft lip on one side is complete (i.e. starts from the bottom of the upper lip and reaches the nasal cavity), and the one on the other side is incomplete (i.e. starts from the bottom of the upper lip but does not reach the nasal cavity) or microform (i.e. a notch, groove, or scar without noticeable rupture of the lip).


name: Abnormal CSF pyruvate family amino acid concentration

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


Philtrum with midline raphe

description: Narrow ridge in the midline of the philtral groove.


name: Anti-carbonic anhydrase VI antibody positivity

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


name: Increased circulating gonadotropin level

description: Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.


Episodic generalized hypotonia

description: The occurrence of repeated episodes of generalized muscular hypotonia.


kidney cortex necrosis

description: Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity.


name: Increased circulating aspartic acid concentration

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


isolated partial vaginal agenesis

description: Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal.


Aortic elastic fiber fragmentation

description: Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers.


Coarctation of abdominal aorta

description: Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.


Hypoglycorrhachia

description: Abnormally low glucose concentration in the cerebrospinal fluid.


Abnormal fetal long-bone echogenicity

description: Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging.


Increased circulating IgG4 level

description: An abnormally increased concentration of the IgG4 subtype in the blood circulation.


Diaminoaciduria

description: An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine).


Arterial calcification

description: Pathological deposition of calcium salts in one or more arteries.


Keratinocyte vacuolization

description: Increased number of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in keratinocytes.


name: Agenesis of permanent maxillary central incisor

description: Agenesis of upper secondary incisor.


peritoneal mesothelioma

description: A benign or malignant mesothelial neoplasm that arises from the peritoneum.


pyridoxine deficiency anemia

description: Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia.


Vaginal mass

description: A swelling or enlargment localized to the vagina. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


name: Tetralogy of Fallot with atrioventricular canal defect


Premature loss of teeth

description: Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.


Long segment coarctation of the aorta

description: Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta.


name: EEG with localized low amplitude activity

description: An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Arcuate vein intima/medial amyloidosis

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


Decreased helper T cell proportion

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


Neurofibroma by anatomical location

description: Neurofibroma categorized according to the anatomical site of origin.


name: Abnormal circulating asparagine concentration

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


Moderate proteinuria

description: Moderately increased levels of protein in the urine (500-1000 mg per day in adults).


Sawtooth acanthosis

description: A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis.


Upper-limb joint contracture

description: A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.


Demyelinating motor neuropathy

description: Demyelination of peripheral motor nerves.


Shortened PR interval

description: Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.


Placenta previa

description: Implantation of the placenta over or near the internal os of the cervix.


Dense calvaria

description: An abnormal increase of density of the bones making up the calvaria.


Impaired ability to shift attention

description: A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible.


name: Hypoplastic anterior limbs of the internal capsule

description: Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule.


name: Abnormal proximal convoluted tubule morphology

description: Any structural anomaly of the proximal convoluted tubule, which is the first tubular component of the nephron and arises as a continuation of the Bowman space from the tubular pole of the renal corpuscle. The proximal convoluted tubule is located within the renal cortex.


Abnormal vasa vasorum morphology

description: A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products.


name: Abnormal male external genitalia morphology

description: Any structural abnormality of male external genitalia.


Increased urinary sulfate

description: Elevated concentration of SO4(2-), i.e., sulfate, in the urine.


name: Renal interstitial plasma cell infiltration

description: Increased numbers of plasma cells in the interstitial tissues of the kidney.


thumb deformity

description: An abnormal structure of the first digit of the hand.


cardiac rhabdomyoma

description: A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis.


Elevated CSF amyloid concentration

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


Transient decreased circulating IgE

description: A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.


Increased urine deoxypyridinoline level

description: An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover.


Cerebral calcification

description: The presence of calcium deposition within the cerebrum.


Hypoplastic anterior commissure

description: Underdevelopment of the anterior commissure.


name: Pulmonary situs ambiguus with bilateral morphologic left lungs

description: An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung.


mixed neuronal-glial tumor

description: A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO)


Pruritis on breast

description: Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast.


name: Increased proportion of naive CD4 T cells


name: Abnormal circulating serine concentration

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


name: Arcuate intimal/medial granulomatous venulitis

description: A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.


Abnormal cellular physiology

description: An abnormality in a cellular process.


name: Female external genitalia in individual with 46,XY karyotype

description: The presence of female external genitalia in a person with a male karyotype.


hydroxyprolinemia

description: An increased concentration of hydroxyproline in the blood.


Startle-induced seizure

description: Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus.


Renal duplication

description: A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.


Pleural thickening

description: An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.


Intercostal muscle weakness

description: Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.


Abnormal pyramidal tract morphology

description: Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.


Decreased scrotal rugation

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


Broad jaw

description: Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).


name: Osteolytic defect of the proximal phalanx of the thumb

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


Septic embolism

description: Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system.


Exercise induced anaphylaxis

description: Anaphylaxis after physical activity.


name: Obliterative abnormality of the renal glomerulus


Hypotaurinemia

description: A decreased amount of taurine in the blood.


Calcium carbonate crystalluria

description: The presence of calcium carbonate crystals in the urine.


High anterior hairline

description: Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.


name: Chronic hepatitis due to cryptosporidium infection

description: Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.


Wrist flexion contracture

description: A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.


Uterine arteriovenous malformation

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


EEG with intermittent slow activity

description: Non-continuous diffuse slowing of electroencephalographic patterns.


name: Abnormal branching pattern of left aortic arch

description: A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch).


Prolonged miniature endplate currents

description: An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.


Fractured cervical vertebra

description: A partial or complete breakage of the cervical vertebra.


Anti-GT1a antibody positivity

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


name: Primary peritoneal serous papillary adenocarcinoma

description: A serous papillary adenocarcinoma that arises from the lining of the peritoneum


Abnormality of angular artery

description: An abnormality of the angular artery, the terminal branch of the facial artery.


Abnormality of pineal physiology

description: A functional abnormality of the pineal gland.


Facial midline hemangioma

description: Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.


Low pulse pressure

description: Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).


name: Linear Hyperpigmentation along Blaschko's lines

description: Linear streaks and swirls of macular hyperpigmentation along the lines of Blaschko.


Fetal cerebellar vermis hemorrhage

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


White papule

description: A papule with white color.


Pedal edema

description: An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.


Religious delusion

description: Delusions are characterized by increased conviction and pervasiveness, permeating the individual's entire experience to a greater extent.


Perihilar glomerular hyalinosis

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum.


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


Punctate palmar hyperkeratosis

description: Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands.


name: Aplasia/hypoplasia affecting bones of the axial skeleton

description: Absence (due to failure to form) or underdevelopment of bones of the axial skeleton.


Decreased transferrin saturation

description: A below normal level of saturation of serum transferrin with iron.


alpha-heavy chain disease

description: Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.


name: Abnormal cellular composition of bronchoalveolar fluid

description: Deviation from the commonly in healthy people observe cellular distribution. Normal ranges are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%.


Clusters of axonal regeneration

description: Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.


Skin-picking

description: Repetitive and compulsive picking of skin which results in tissue damage.


aorta coarctation

description: Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps.


Anti-laminin 332 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332.


Pulmonary aterial intimal fibrosis

description: Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.


name: Elevated urinary formiminoglutamic acid level

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


Weakness of facial musculature

description: Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).


Membranous ventricular septal aneurysm

description: Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).


Chylothorax

description: Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.


Recurrent infantile hypoglycemia

description: Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.


Prolonged euglobulin clot lysis time

description: Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.


name: Cortical radial artery medial/intimal granulomatous arteriitis

description: A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.


Iron accumulation in brain

description: An abnormal build up of iron (Fe) in brain tissue.


name: Multinucleated visceral epithelial cells

description: Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy.


name: Contracture of the metatarsophalangeal joint of the 2nd toe

description: The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively.


Loculated ascites

description: A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection.


name: Periventricular white matter hyperintensities

description: Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.


name: Neonatal seizure with bilateral symmetric automatism

description: Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body symmetrically.


Hypocalciuria

description: An abnormally decreased calcium concentration in the urine.


Pelvic bone exostoses

description: A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.


Weak pulse

description: A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.


name: Focal impaired awareness perseverative automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset.


name: Focal cognitive seizure with conduction dysphasia/aphasia

description: A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation.


Large placenta

description: Increased size of the placenta.


Subcutaneous nodule

description: Slightly elevated lesions on or in the skin with a diameter of over 5 mm.


Intraluminal meconium calcification

description: Deposition of calcium in meconium present in the internal cavity of the fetal bowel. This manifestation may be the result of any distal intestinal obstruction.


name: Increased subcutaneous truncal adipose tissue

description: The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.


name: Elevated CSF angiotensin-converting enzyme concentration


Flexion contracture of digit

description: A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.


Abnormal atrioventricular conduction

description: An impairment of the electrical continuity between the atria and ventricles.


Edema of the dorsum of hands

description: An abnormal accumulation of fluid beneath the skin on the back of the hands.


name: Type 1 and type 2 muscle fiber minicore regions

description: Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.


name: Abnormal circulating thyroglobulin concentration

description: A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.


name: Anti-isoleucyl tRNA-synthetase antibody positivity

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


Pulmonary vein varix

description: Pulmonary vein varix (PVV), refers to a localized dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent.


Thalamic calcification

description: Calcium deposition in the thalamus.


Renal pelvic carcinoma

description: The presence of a carcinoma in the renal pelvis.


Decreased CSF lysine concentration

description: Abnormally decreased levels of lysine in cerebrospinal fluid.


Abnormal CSF valine concentration

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


name: Increased phytanic acid:pristanic acid ratio

description: An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration.


Valvular pulmonary stenosis

description: A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve.


Hepatosplenomegaly

description: Simultaneous enlargement of the liver and spleen.


Generalized neonatal hypotonia

description: Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.


name: Increased anti-meat allergen IgE antibody level

description: Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken.


Volar fingernail

description: The presence of an extra nail on the palmar (volar, ventral) surface of the finger.


skeletal muscle disorder

description: A disease involving the skeletal muscle tissue.


Renal vein thrombosis

description: The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output.


leiomyosarcoma of the corpus uteri

description: An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.


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


Penile hypospadias

description: Location of the urethral opening on the inferior aspect of the penis.


Hemosiderinuria

description: The presence of hemosiderin in the urine.


Hypoplasia of the pons

description: Underdevelopment of the pons.


Conspicuously happy disposition

description: An unusually happy demeanor over time, which can also be observed during inappropriate situations that should, for example, cause distress, fear, or anger.


Abnormality of the internal capsule

description: An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus.