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.


Warm reactive autoantibody positivity

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

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.


name: Absent epiphysis of the distal phalanx of the hallux

description: Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux.


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.


lingual-facial-buccal dyskinesia

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

description: Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.


Pulmonary fat embolism

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


Bullet-shaped thumb phalanx

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


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.


name: Abnormality of the phalanges of the 4th toe


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.


name: Cortical diaphyseal irregularity of the upper limbs


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.


Short neck

description: Diminished length of the neck.


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.


Cervical platyspondyly

description: A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.


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.


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

description: Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger.


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.


Invasive fungal infection

description: Fungal infection characterized by invasion of host tissues.


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.


Lateral thrust

description: Lateral thrust (LT) refers to an abnormal knee joint motion in the early stance phase where the knee joint center moves laterally. Also known as varus thrust, LR is defined as the dynamic worsening or abrupt onset of varus (bow-leg) alignment as the limb accepts weight (stance phase), with a return to less varus and more neutral alignment during lift-off and the non-weight-bearing (swing) phase of gait, varus thrust is a potent mechanical risk factor for medial knee osteoarthritis progression.


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: Abnormality of dorsoventral patterning of the limbs

description: An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs.


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.


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


Abnormal nasal base norphology

description: An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face.


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.


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).


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

description: Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger.


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.


Macroscopic hematuria

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


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.


Wide humeral diaphysis

description: Increased width of the humeral diaphysis.


name: Cleft at the superior portion of the pinna


name: Elevated circulating biliverdin concentration

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


name: Elevated circulating lyso-globotriaosylsphingosine concentration

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


Thoracic hemivertebrae

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


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).


Short phalanx of the 3rd toe

description: Developmental hypoplasia of the phalanx of third toe.


Abnormal mucociliary clearance

description: An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary beating.


Intermittent jaundice

description: Jaundice that is sometimes present, sometimes not.


Absent stapes

description: Aplasia of the stapes.


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.


Pseudoepiphyses of the 4th finger

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


Rete ridge elongation

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


Small cerebral cortex

description: Reduced size of the cerebral cortex.


Short tubular bones of the hand

description: Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.


nodular goiter

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


Bifid antitragus

description: Double rather than single peak of the antitragus.


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.


name: Partial duplication of the distal phalanx of the 5th toe

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


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.


Aplasia of the 4th metacarpal

description: Absence of the fourth long bone of the hand.


Abnormal chylomicron concentration

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


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.


Long nose

description: Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.


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.


Pharyngeal mass

description: An abnormal enlargement or swelling localized to the pharynx (i.e., the throat, the space that connects the nose and mouth to the larynx and esophagus). 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: 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.


C2-C3 subluxation

description: A partial dislocation of the intervertebral joint between the second and third cervical vertebrae.


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).


Subglottic laryngitis

description: Narrowing of the larynx, commonly occuring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure.


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.


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

description: Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.


Short distal phalanx of the 4th toe

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


name: Fragmentation of the epiphyses of the 3rd finger

description: Fragmented appearance of the epiphyses of the 3rd finger.


Abnormal cheek morphology

description: An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. "Buccal" means relating to the cheek. The cheek is part of the midface


Episodic generalized hypotonia

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


name: Increased circulating aspartic acid concentration

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


name: Abnormality of the middle phalanx of the 3rd toe


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.


name: Cone-shaped epiphysis of the 1st metacarpal

description: A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance.


Diaminoaciduria

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


Hip subluxation

description: A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.


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: Fragmentation of the epiphyses of the toes


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.


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.


name: Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal

description: Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal.


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.


name: Enlarged epiphysis of the proximal phalanx of the 2nd finger


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.


Dense calvaria

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


Achilles tendon calcification

description: Ectopic deposition of calcium salts in the Achilles tendon.


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: Fragmentation of the epiphyses of the middle phalanges of the hand

description: Fragmented appearance of the epiphyses of the middle phalanges of the hand.


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.


name: Symphalangism affecting the phalanges of the 4th toe


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.


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.


name: Symphalangism affecting the phalanges of the toes


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).


name: Abnormal distal femoral metaphysis morphology

description: An anomaly of the metaphysis of the distal femur (close to the knee).


Transient decreased circulating IgE

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


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: Duplication of the middle phalanx of hand

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


name: Abnormal circulating serine concentration

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


Cartilaginous ossification of larynx

description: Ossification affecting the set of cartilages of larynx.


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.


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.


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.


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.


cerebral cortical dysplasia

description: Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay.


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.


factor XIII, b subunit, deficiency of

description: Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.


Scaphoid abdomen

description: The anterior abdominal wall is sunken and presents a concave rather than a convex contour.


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).


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.


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.


lissencephaly due to LIS1 mutation

description: Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.


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


Motor seizure

description: A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


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.


Ectopic thyroid

description: Mislocalised thyroid gland.


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


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%.


Duplication of middle phalanx of toe

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


Clusters of axonal regeneration

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


Joubert syndrome

description: Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.


Skin-picking

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


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.


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).


tetra-amelia

description: Amelia of all four limbs.


diffuse palmoplantar keratoderma

description: Palmoplantar keratoderma that diffusely involves most of the palm and sole and is caused by a genetic abnormality.


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.


generalized dystonia

description: A type of dystonia that affects all or most of the body.


Bifid proximal phalanx of the thumb

description: This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


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.


Focal cortical dysplasia type IIb

description: A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells.


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.


Absent antitragus

description: Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.


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.


Abnormal speech discrimination

description: A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.


name: Focal cognitive seizure with conduction dysphasia/aphasia

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


Bifid tragus

description: Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak.


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.


Lower limb peromelia

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


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


Pectoralis major hypoplasia

description: Underdevelopment of the pectoralis major.


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.


Pharyngeal exudate

description: Fluid exuded from the posterior wall of the pharynx.


Short distal phalanx of the 5th toe

description: Developmental hypoplasia of the distal phalanx of little toe.


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.


Hemihypertrophy

description: Overgrowth of only one side of the body.


Thalamic calcification

description: Calcium deposition in the thalamus.


name: Decreased pre-bronchodilator forced vital capacity

description: An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication.


Absent middle phalanx of the 3rd toe

description: Developmental aplasia of the middle phalanx of third toe.


Renal pelvic carcinoma

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


Broad fingertip

description: Increased width of the distal segment of a finger.


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.


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.


Darwin tubercle of helix

description: Small expansion of the helical fold at the junction of the superior and descending portions of the helix.


Abnormal 4th finger phalanx morphology

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


Absent tibia

description: Absence of the tibia.


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.


Underdeveloped crus of the helix

description: Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average.


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.


Abnormal 1st metacarpal morphology

description: A structural anomaly of the first metacarpal.


name: Enlargement of the proximal femoral epiphysis

description: An abnormal enlargement of the proximal epiphysis of the femur.


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.


name: Impaired arachidonic acid-induced platelet aggregation

description: Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.


name: Nontuberculous mycobacterial pulmonary infection

description: An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.


Molluscoid pseudotumors

description: Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.


name: Partial duplication of the phalanges of the hallux


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

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


Curved proximal toe phalanx

description: A deviation from the normal straight shape of a proximal phalanx of one or more toes.


name: Abnormal circulating testosterone concentration

description: An anomalous concentration of testosterone in the blood.


Intrarenal reflux

description: Severe vesicoureteral reflux reaching the kidney parenchyma.


name: Abnormal immune serum protein physiology

description: An abnormality of the concentration or function of circulating immune proteins.


Perifissural pulmonary nodule

description: Solid, homogenous nodules characterized by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes.


Hyperphalangy of the 3rd finger

description: An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint.


Interface hepatitis

description: Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma.


Adrenal leiomyoma

description: Adrenal leiomyoma is a rare, benign solid tumor that develops from the smooth muscle of the adrenal vein and its tributaries


Peromelia

description: The distal parts of the limbs are missing leading to a stump formation.


Bilateral fetal pyelectasis

description: A bilateral form of fetal pyelectasis.


Absent epiphyses of the 4th finger

description: Absence of one or more epiphyses of the 4th finger.


osteopoikilosis

description: A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones.


paraphimosis

description: A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene.


name: Aplasia/Hypoplasia of the proximal phalanx of the 5th finger

description: Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger.


name: Bullet-shaped proximal phalanx of the hallux

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


name: Bullet-shaped distal phalanx of the 4th toe

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


ceruminoma

description: A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a gray mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm.


Radial dysplasia

description: Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.


Accessory spleen

description: An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.


Vascular hamartoma

description: A benign focal growth composed of vascular tissue.


Periportal fibrosis

description: The presence of fibrosis affecting the interlobular stroma of liver.


Abnormal nasal septum morphology

description: An abnormality of the nasal septum.


Valinemia

description: Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal.


Renal interstitial amyloid deposits

description: Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation.


name: Increased circulating guanosine concentration

description: Increased concentration of guanosine in the blood circulation.


name: Osteolytic defects of the distal phalanx of the 4th toe


Intraoral laceration

description: A wound of the mucosa within the oral cavity covering lips, tongue, palate, gingiva, pharynx, or retropharynx.


Facial-lingual fasciculations

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


Renal neutrophilic tubulitis

description: Infiltration of the renal tubular epithelium by neutrophils.


Pulmonary arteriovenous malformation

description: Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.


name: Abnormal electrophysiology of sinoatrial node origin

description: An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.


Central diaphragmatic hernia

description: A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present.


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


Curved distal phalanx of the 5th finger

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


Pleural mass

description: A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).


name: Increased erythrocyte protoporphyrin concentration

description: Concentration of protoporphyrins in erythrocytes above the upper limit of normal.


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

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


Lichenoid skin lesion

description: Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques.


Fixated interest with abnormal focus

description: A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners.


hair follicle neoplasm

description: A benign or malignant neoplasm arising from the hair follicle.


name: Elevated CSF gamma-aminobutyric acid concentration


name: Aplasia/hypoplasia involving bones of the upper limbs

description: Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.


name: Complete duplication of the middle phalanx of the 3rd toe

description: Complete duplication of middle phalanx of third toe.


name: Focal impaired awareness sensory seizure with olfactory features

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


Axial malrotation of the kidney

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


name: Increased circulating surfactant protein level

description: An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis.


Addictive non-substance behaviors

description: Uncontrolled use or problematic behaviors of dependency without the use of drugs or substances can be detrimental.


Wide nasal bridge

description: Increased breadth of the nasal bridge (and with it, the nasal root).


Pretesticular azoospermia

description: Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels.


name: Left aortic arch with right descending aorta and right ductus arteriosus

description: The ring may be completed by the ductal ligament.


Internal carotid artery calcification

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


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

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


name: Decreased lymphocyte proliferation in response to anti-CD3

description: A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.


name: Melanin pigment aggregation in hair shafts


Gottron sign

description: Erythematous macules or patches over extensor surfaces of elbows, knuckles, knees, and ankles.


Pulmonary interstitial thickening

description: Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening.


name: Increased anti-bacteria IgE antibody level

description: Increased level of IgE antibody against bacteria.


Impaired platelet aggregation

description: An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.


name: cutis marmorata telangiectatica congenita

description: Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.


nevus comedonicus syndrome

description: A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood.


Short 3rd metacarpal

description: Short third metacarpal bone.


name: Abnormal alveolar type II pneumocyte morphology

description: Any structural abnormality of alveolar type 2 (ATII) cells.


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

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


Anti-MIT3 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3.


Antihelical shelf

description: Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha.


name: Reduced circulating creatine concentration

description: An reduction below the normal range of creatine in the blood circulation.


Curved distal phalanx of the 5th toe

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


name: Cortical radial artery intima/media liquefactive necrosis

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


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


Discontinuous ascending root of helix

description: Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid.


name: Abnormal left ventricular outflow tract morphology

description: An abnormality of the outflow tract of the left ventricle.


Increased proportion of memory B cells

description: An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).


fibroblastic neoplasm

description: A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts.


name: Abnormal fetal central nervous system morphology

description: An anomalous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


name: Smooth septal thickening on pulmonary HRCT

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


Total hyposmia

description: Reduced ability to detect any qualitative olfactory sensation.


Platonychia

description: Abnormal flat nail.


Focal aware vocal automatism seizure

description: A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout.


Focal atonic seizure

description: A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature.


name: Anti-aminoacyl-tRNA synthetase antibody positivity

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


Frequent temper tantrums

description: Temper tantrums that occur more frequently compared to the temper tantrums that are a part of the normal developmental process.


acheiria

description: The total absence of the hand, with no bony elements distal to the radius or ulna.


Patchy sclerosis of 2nd finger phalanx

description: Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger.


Stiff wrist

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


name: Abnormality of ductus venosus blood flow

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


Interictal epileptiform activity

description: Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.


name: Fragmentation of the epiphyses of the 4th finger

description: Fragmented appearance of the epiphyses of the 4th finger.


name: Decreased specific antibody response to infection

description: A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection.


name: Accumulation of lipid droplets in small-bowel enterocytes


Generalized hirsutism

description: Abnormally increased hair growth over much of the entire body.


Cone-shaped epiphyses of the 5th finger

description: A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


name: Predominantly dermal neutrophilic infiltrate

description: Collection of neutrophils in the dermis.


name: Decreased circulating metanephrine concentration

description: Concentration of metanephrin in the blood circulation below the lower limit of normal.


name: Abnormal circulating pregnenolone concentration

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


Prominent nasolabial fold

description: Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).


Exanthem

description: A widespread rash.


Occipital meningocele

description: A herniation of meninges through a congenital bone defect in the skull in the occipital region.


Focal emotional seizure with pleasure

description: Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy.


name: Abnormal female reproductive system physiology


Auditory sensitivity

description: Decreased tolerance to sound.


Narrow femoral neck

description: An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).


Abnormal lung lobation

description: A developmental defect in the formation of pulmonary lobes.


name: Abnormal circulating deoxycorticosterone level

description: An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.


Intrapartum fever

description: The occurence of maternal fever during labor.


aprosencephaly

description: A very rare congenital brain defect in which the cerebral cortex, striatum, globus pallidus, thalamus, hypothalamus, and eyes are absent or rudimentary.


Renal interstitial inflammation

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


Rosenthal fibers

description: Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders.


Absent ray

description: The absence of all phalanges of a digit and the associated metacarpal /metatarsal.


name: Abnormal amyloid beta 40 peptide CSF concentration

description: Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form.


name: Focal impaired awareness emotional seizure with paranoia

description: Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure.


Auditory hypersensitivity

description: Hyperresponsive to sound that is abnormal in intensity and/or frequency.


Subcutaneous arteriolar thrombosis

description: Fibrin thrombi inside subcutaneous arterioles.


tricuspid valve stenosis

description: Narrowing or stricture of the tricuspid orifice of the heart.


Neurenteric cyst

description: The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.


name: Double inlet atrioventricular connection

description: The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.


name: Triangular epiphysis of the distal phalanx of the 3rd finger

description: A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


atrophic glossitis

description: Glossy appearance of the entire tongue surface.


Anti-PKCgamma antibody

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


Short nasal septum

description: Reduced superior to inferior length of the nasal septum.


Small proximal tibial epiphyses

description: Reduced size of the proximal epiphysis of the tibia.


name: Elevated circulating 7-dehydrocholesterol concentration

description: Concentration of 7-dehydrocholesterol in the blood circulation above the upper limit of normal.


name: Patchy sclerosis of the distal phalanx of the hallux


name: Abnormal renal arteriole intima/media morphology

description: Any structural anomaly located in the inner or middle layer of the arterioles of the kidney.


vulvodynia

description: Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months.


Abnormal proportion of memory T cells

description: An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response.


Congenital pouch colon

description: A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract.


name: Abnormal CSF glutamine family amino acid concentration

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


name: Distal/middle symphalangism of 2nd finger

description: Fusion of the terminal/distal and middle phalanges of the 2nd finger.


Grasp reflex

description: A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395].


name: Abnormality of the epiphyses of the elbow


name: Abnormal male urethral meatus morphology


Single lineage myelodysplasia

description: Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).


Heavy proteinuria

description: Severely increased levels of protein in the urine (1000-3000 mg per day in adults).


Subcutaneous spheroids

description: Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.


Infection-related seizure

description: Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.


Atrophy of the dentate nucleus

description: Partial or complete wasting (loss) of dentate nucleus.


Nasal secretion neutrophilia

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


name: Aplasia/Hypoplasia of the frontal sinuses

description: Absence or underdevelopment of frontal sinus.


Delayed CNS myelination

description: Delayed myelination in the central nervous system.


Fetal tachycardia

description: The number of beats per minute (bpm) of the fetal heart is above the upper limit of the normal for the gestational age. Fetal tachycardia is thus defined as a heart rate greater than 160-180 bpm.


Granulomatous cholangitis

description: Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts.


name: Decreased CSF asialotransferrin to transferrin ratio

description: The concentration of asialotransferrin relative to that of transferrin in the cerebrospinal fluid (CSF) is below the lower limit of normal.


Renal tubular polyoma virus inclusions

description: Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection.


Skin infectious agent

description: The presence of an infectious agent in the skin.


Super-refractory status epilepticus

description: Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent.


Abnormality of the Achilles tendon

description: An abnormality of the Achilles tendon.


name: Increased anti-gluten IgE antibody level

description: Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye.


Abnormal thalamus morphology

description: An abnormality of the thalamus.


name: Increased anti-nut food product IgE antibody level

description: Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds.


name: Splenic lipid-laden macrophage infiltration

description: Accumulation of foamy cells (lipid-laden macrophages) in the parenchyma of the spleen.


name: Focal cognitive seizure with dyscalculia/acalculia

description: A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.


name: Elevated urinary gamma-glutamylphenylalanine level

description: The amount of gamma-glutamylphenylalanine level in the urine, when normalized for urine concentration, is above the upper limit of normal.


name: Increased anti-animal protein IgE antibody level

description: Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine.


Fibrocellular crescent

description: A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix.


Malignant rhabdoid tumor of the bladder

description: A rhabdoid tumor (a rare aggressive malignancies in infants and young children with a poor prognosis) originating in the urinary bladder.


name: Fractured epiphysis of middle phalanx of manus

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


Bowman capsular hyaline drops

description: An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material.


Euthyroid hyperthyroxinemia

description: Increased levels of thyroxine without evidence of clinical thyroid disease.


name: Elevated circulating acetylcarnitine concentration

description: Concentration of acetylcarnitine (C2 acylcarnitine) in the blood circulation above the upper limit of normal. Acetylcarnitine has a two-carbon acyl chain.


Anti-centromere antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.


Absent pubic hair

description: Absence of pubic hair.


name: Abnormal circulating A-type atrial natriuretic peptide concentration

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


Reduced responsiveness to social cues

description: Abnormality in the way one responds to social cues such as a verbal cue (which should cause one to shift attention) or someone sharing their emotions (which should elicit a sympathetic response).


Neck muscle hypertrophy

description: Muscle hypertrophy affecting the muscles of the neck.


Submucous cleft palate

description: A cleft of the muscular portion of the palate that is covered by mucous membrane.


Progressive proximal muscle weakness

description: Lack of strength of the proximal muscles that becomes progressively more severe.


name: Infracardiac total anomalous pulmonary venous connection

description: Type 3 total anomalous pulmonary venous connection.


Triangular-shaped open mouth

description: A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle.


name: Right sided atrium to left ventricle and absent left sided atrioventricular connection


Abnormal spleen physiology

description: Any anomaly of the function of the spleen.


Soft skin

description: Subjective impression of increased softness upon palpation of the skin.


Interlobular bile duct destruction

description: Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).


Abnormal CSF threonine concentration

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


name: Triangular shaped phalanges of the 5th toe


Anti-P/Q-type VGCC antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs).


Abnormal pelvis bone ossification

description: An abnormality of the formation and mineralization of any bone of the bony pelvis.


Abnormal cementum morphology

description: Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root).


Inappropriate sinus tachycardia

description: Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands.


xanthinuria type I

description: A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer.


description: The presence of an antibody in the blood circulation that is directed against an antigen on the surface of erythrocytes (red-blood cells).


Hyperargininemia

description: An increased amount of arginine levels in the blood.


name: Abnormal mandible coronoid process morphology

description: An abnormality of a mandible coronoid process.


name: Slit-like opening of the exterior auditory meatus

description: A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit.


name: Elevated circulating carcinoembryonic antigen concentration

description: Concentration of the carcinoembryonic antigen (CEA) in the blood circulation above the upper limit of normal. CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker.


Hepatic calcification

description: The presence of abnormal calcium deposition in the liver.


Hypoplastic ischiopubic ramus

description: Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium.


name: Thinning of the substantia nigra pars compacta

description: Reduced volume of pars compacta of the substantia nigra.


Recurrent shoulder dislocation

description: Shoulder dislocation occurring repeated times.


hydranencephaly

description: A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.


name: Stippling of the epiphyses of the 5th toe

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


Cervical C3/C4 vertebral fusion

description: Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.


name: Decreased small intestinal mucosa lactase level

description: Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.


Intralobar nephrogenic rest

description: A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls.


Aspartic aciduria

description: A increased concentration of aspartic acid in the urine.


Anomaly of lower limb diaphyses

description: A structural abnormality of a diaphysis of the leg.


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


Hypoargininemia

description: A decreased concentration of arginine in the blood.


Ectopic tooth eruption

description: A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth.


name: Abnormality of the bed nucleus of stria terminalis

description: The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus.


Fetal cerebral parenchymal hemorrhage

description: A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain.


name: Abnormal circulating carnosine concentration

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


name: Large clumps of pigment irregularly distributed along hair shaft


name: Fractured distal phalanx of pedal digit 1

description: A partial or complete breakage of the distal phalanx of pedal digit 1.


Facial cyanosis

description: Bluish discoloration of one or more regions of the face.


Irregular distal femoral epiphysis

description: Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.


name: Duplication of the proximal phalanx of the hallux

description: Partial or complete duplication of the proximal phalanx of big toe.


Total colonic aganglionosis

description: A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.


Decreased platelet glycoprotein Ib

description: Decreased platelet cell membrane concentration of glycoprotein Ib.


Dilatation of the ventricular cavity

description: A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.


Increased cystatin C level

description: A elevated concentration of cystatin C in the blood circulation.


Malignant genitourinary tract tumor

description: The presence of a malignant neoplasm of the genital system.


Abnormal renal artery morphology

description: Any structural abnormality of the renal artery.


name: Magnesium ammonium phosphate crystalluria

description: Magnesium ammonium phosphate crystals in the urine.


Stapes ankylosis

description: Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).


name: Duplication of bones involving the upper extremities


Low frustration tolerance

description: The feeling of frustration can be defined as an emotional reaction that occurs when a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration, characterized by crying or temper tantrums in children, or aggressive or other undesirable behaviors.


Frontal bossing

description: Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.


Anti-laminin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane.


name: focal epithelial hyperplasia of the oral mucosa

description: The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate.


name: Reduced proximal interphalangeal joint space


Generalized hypotrichosis

description: Reduced or lacking hair growth in a generalized distribution.


Spinning

description: An excessive frequency of spinning one's body.


Grayish enamel

description: A gray discoloration of the dental enamel.


benign muscle neoplasm

description: A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue.


name: Decreased circulating alpha-fetoprotein concentration

description: Concentration of alpha-fetoprotein in the blood circulation below the lower limit of normal.


penile agenesis

description: An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities.


Anal mucosal leukoplakia

description: Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation.


Ductal bile plugs

description: Bile thrombi that form an obstruction (plug) in a dilated bile duct.


name: Anti-cyclic citrullinated peptide antibody positivity

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


Dysgenesis of the basal ganglia

description: Structural abnormality of the basal ganglia related to defective development.


Abnormality of the fascia

description: An abnormality of fascia.


Intrinsic hand muscle atrophy

description: Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.


Limb duplication

description: Congenital duplication of all or part of a limb.


Multiple renal cysts

description: The presence of many cysts in the kidney.


Bowel irritability

description: Intermittent abdominal pain with diarrhea and/or constipation.


Abnormality of pulmonary circulation

description: A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.


coxa vara

description: Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental.


Elevated natural killer cell count

description: The count of natural killer cells per volume of blood is above the upper limit of normal.


Crouch gait

description: A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase.


Reduced tendon reflexes

description: Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.