Abnormal insulin like growth factor binding protein acid labile subunit level

A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier.


Partial duplication of the phalanges of the 5th finger

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A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Fetal chylothorax

The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus.


Small epiphysis of the proximal phalanx of the 3rd toe


Orbital rhabdomyosarcoma

A mesenchymal tumor that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit.


ovarian fibroma

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:ThingWithTaxon

A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts.


Symmetric polyarthritis

Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion.


Abnormal pineal volume

An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland.


Subepithelial glomerular basement membrane electron dense deposits

Prominent glomerular basement membrane (GBM) reflecting a diffuse and relativly uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM.


Increased hemoglobin concentration

An abnormal elevation above normal hemoglobin concentration in the circulation.


Partial duplication of the middle phalanges of the hand

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


Umbilicated nodule

A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated).


Jaw contracture

Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement.


Howell-Jolly bodies

Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets.


Abnormal urine metabolite level

Any deviation from the normal amount of a metabolite in urine.


Micronodular cirrhosis

A type of cirrhosis characterized by the presence of small regenerative nodules.


Abnormal labia majora morphology

An anomaly of the outer labia.


Testicular lipomatosis

Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm.


Elevated urine N-acetylaspartic acid level

Amoutn of N-acetylaspartate high in the urine above upper limit of normal.


Abnormal platelet granules

An anomaly of alpha or dense granules or platelet lysosomes.


Increased anti-seafood IgE antibody level

Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone.


Gastric xanthoma

Gastric xanthomas (also known as xanthelasmas) are are plaque-like red lesions defined by the presence of histiocytic containing lipids.


Elevated circulating palmitoylcarnitine concentration

Abnormally increased concentration of palmitoylcarnitine in the blood circulation.


Increased length of the tibia

An abnormal increase in the length of the tibia.


Hypoplasia of mandible relative to maxilla

Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).


Enlarged epiphyses of the distal phalanges of the hand


Aplasia of the parotid gland

Absence of the parotid gland.


Abnormality of the incisor

An abnormality of the Incisor tooth.


Abnormal heart rate variability

Any abnormality in the variability of the time interval between successive heartbeats.


penoscrotal transposition

Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).


Osteolytic defects of the middle phalanx of the 4th toe


Malignant hyperthermia that is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.


Focal aware cognitive seizure with left-right confusion

A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure.


Abnormal renal echogenicity

Anomalous echogenicity of the kidney on ultrasound examination.


Diffuse ribbon-like subcortical heterotopia

Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex.


Furcate cord insertion

Branching of the umbilical cord before its insertion into the placenta.


Flexural lichenification

Lichenification affecting primarily flexural areas of the skin.


Dysplastic aortic valve

A congenital malformation of the aortic valve characterized by leaflet deformation.


hereditary leiomyomatosis and renal cell cancer

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.


Nonfunctional or atypical use of objects in play

Use of objects in atypical, unimaginitive ways other than for which they are intended (banging, throwing, shaking, sorting, lining up, spinning).


Moderately short stature

A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.


Isolation of the left subclavian artery

The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus.


Abnormality of the musculature of the upper arm


Adrenocorticotropin receptor defect

Adrenal insufficiency secondary to a defect in the ACTH receptor.


Abnormal breast morphology

Any anomaly of the structure of the breast.


Atypical scarring of skin

Atypically scarred skin .


Lobulated tongue

Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.


Increased level of platelet-activating factor


Lipedema

Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema.


EEG with spike-wave complexes

Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Radial deviation of thumb terminal phalanx


A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.


Lip cyanosis

Bluish discoloration of the lips.


myoglobinuria, recurrent

An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner.


Irregular epiphysis of the distal phalanx of the 5th toe


Anti-Kelch like protein 11 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11).


pelvic lipomatosis

A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males.


Bullet-shaped distal phalanx of the 3rd finger

Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected.


Localized area of pendulous skin

A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region.


Absence of CD8-positive T cells

Lack of detectible CD8-positive T cells


Abnormal endocardium morphology

An abnormality of the endocardium.


Focal impaired awareness cognitive seizure with neglect

A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure.


Short fetal femur length

A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).


Pectus excavatum of inferior sternum

Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum.


Unilateral hypoplasia of pectoralis major muscle

Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.


Abnormal dense granule content

A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.


Abnormal capillary morphology

A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.


Elevated circulating tenascin-C level

Abnormally increased concentration of tenascin-C in the blood circulation.


Severe conductive hearing impairment

A severe form of conductive hearing impairment.


Abnormal cerebellar cortex morphology

Any structural anomaly of the cortex of the cerebellum.


Liver kidney microsome type 1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2).


conductive hearing loss disorder

Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea.


Cavitation of the basal ganglia

The formation of small cavities in the tissue of the basal ganglia.


Testicular mesothelioma

A Malignant mesothelioma of the testis.


Intratubular hyaline casts

A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.


Abnormal blood zinc concentration

An abnormality of zinc ion homeostasis.


Abnormal circulating proteinogenic amino acid derivative concentration

Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid.


Hyperthreoninuria

An increased concentration of threonine in the urine.


Cone-shaped epiphyses of the 3rd finger

A cone-shaped appearance of the epiphyses of the 3rd 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.


Copper accumulation in brain

An anomalous build up of copper (Cu) in the brain.


Abnormal macroscopic urine appearance

Anomalous physical appearance (color, cloudiness, clarity) or odor of urine.


Fractured interphalangeal joint

A partial or complete breakage of the interphalangeal joint.


acral lentiginous melanoma

A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells.


Unilateral conductive hearing impairment


Bullet-shaped proximal phalanx of the 2nd finger

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


Osseous finger syndactyly

Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".


Increased circulating troponin I concentration

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


Fragmentation of the epiphysis of the middle phalanx of the 5th finger

Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger.


Abnormality of the proximal phalanx of the 2nd finger


Short middle phalanx of the 3rd finger

Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger.


Webbed neck

Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.


Descending aortic dissection

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


Hemangioma of the lip

A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia.


Postauricular pit

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


Bone marrow erythroid vacuolization

Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of erythroid precursors in the bone marrow.


Intralamellar aortic medial fibrosis

A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units.


dental enamel hypoplasia

Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth.


Rudimentary postaxial polydactyly of hands


Partial duplication of the proximal phalanx of the 2nd toe

Partial duplication of proximal phalanx of second toe.


Abnormal proerythroblast morphology

Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.


Clinodactyly of the 3rd toe

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


Flexion contracture of the 2nd toe

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


Incomplete partition of the cochlea type II

With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation.


Joint contracture

A limitation in the passive range of motion of the elbow 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. A contracture prevents movement of the associated body part.


familial thoracic aortic aneurysm and aortic dissection

A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.


Decreased CSF 5-hydroxyindolacetic acid concentration

5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal.


Thickened superior cerebellar peduncle

Increased width of the superior cerebellar peduncle.


Glomerular fibrin thrombus

An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen.


Abnormality of the wrist

Abnormality of the wrist, the structure connecting the hand and the forearm.


Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells

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


Abnormal vestibular saccule morphology

Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement).


Low hanging columella

Columella extending inferior to the level of the nasal base, when viewed from the side.


Sickled erythrocytes

An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).


Yellow skin plaque

A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color.


Lymph node xanthomatosis

Lipid deposits localized within one or more lymph nodes. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


Hypotyrosinemia

An decreased concentration of tyrosine in the blood.


Short proximal phalanx of thumb

Hypoplastic (short) proximal phalanx of the thumb. 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.


Diffuse cerebellar atrophy

Diffuse unlocalised atrophy affecting the cerebellum.


Morphological abnormality of the middle ear

An abnormality of the morphology or structure of the middle ear.


Focal cortical dysplasia type III

A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe.


EEG with spike-wave complexes (>3.5 Hz)

The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).


Congenital absence of portal vein

Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts.


polydactyly of a triphalangeal thumb

A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia.


Contracture of the proximal interphalangeal joint of the 2nd toe

The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.


Anti-hexokinase-1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1.


Focal aware verbal automatism seizure

A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout.


Impaired renal ltubular reabsorption of chloride

Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine.


Posterior predominant thick cortex pachygyria

Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.


Fractured nose

A partial or complete breakage of the nose.


Hepatic polyglucosan accumulation

Intracellular accumulation of polyglucosan bodies-containing amylopectinlike polysaccharide-in the liver.


Abnormality of circulating fibrinogen

An abnormality of the level of activity of circulating fibrinogen.


Hip dislocation

Displacement of the femur from its normal location in the hip joint.


Cone-shaped epiphysis of the distal phalanx of the 5th toe


Pleural cobblestoning

A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura.


Fractured phalanx of manus

A partial or complete breakage of the phalanx of manus.


Increased T3/T4 ratio

A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal.


Oral-pharyngeal dysphagia

Difficulty in swallowing due to an abnormality in the mouth or throat.


Type II cryptotia

A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected.


Periventricular pseudocyst

Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns.


Bracket epiphysis of the distal phalanx of the 3rd finger

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


preeclampsia/eclampsia 1

Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia.


Abnormal dentate nucleus morphology

An abnormality of the dentate nucleus.


Abnormal circulating aromatic amino acid concentration

Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.


Pulmonary artery dilatation

An abnormal widening of the diameter of the pulmonary artery.


Abnormal labia morphology

An anomaly of the labia, the externally visible portions of the vulva.


Impaired oxidative burst

In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.


EEG with multifocal slow activity

Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Duodenal arteriovenous malformation

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


Increased urine isobutyrylglycine concentration

Elevated concentration of isobutyrylglycine in the urine.


lentigo maligna melanoma

Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible.


Complete duplication of the middle phalanx of the 5th finger

Complete duplication of the fifth middle phalanx of hand.


Interlobular vein intima/media liquefactive necrosis

A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


Absent nasal septal cartilage

Lack of the cartilage of the nasal septum.


Abnormal mandibular symphysis morphology

A structural abnormality of a mandibular symphysis.


Linear atelectasis

Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm.


Infantile spasms

Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).


EEG with photoparoxysmal response

EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.


Hepatic mastocytosis

Liver mast cell infiltration.


Crypt hyperplasia

Crypt hyperplasia denotes elongation of the length of the crypts of Lieberkuhn, a process that initially precedes villous atrophy. Elongation may be caused by expansion of the lamina propria as a result of the proliferation of stromal cells, an influx of inflammatory cells and tissue remodelling.


Bracket epiphysis of the distal phalanx of the hallux

The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.


Fractured navicular bone of pes

A partial or complete breakage of the navicular bone of pes.


Protrusio acetabuli

Intrapelvic bulging of the medial acetabular wall.


Abnormal circulating thromboxane concentration

Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels.


Abnormal intrahepatic bile duct morphology

An abnormality of the intrahepatic bile duct.


solitary median maxillary central incisor syndrome

A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified.


Increased radioactive iodine uptake

An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.


paroxysmal dystonia

A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.


Anorexia

A lack or loss of appetite for food (as a medical condition).


secretory component deficiency

Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens.


Abnormal morphology of phalanx of the 2nd toe

An anomaly of a phalanx of second toe.


Abnormal circulating pyruvate family amino acid concentration

An abnormality of a pyruvate family amino acid metabolic process.


Focal aware cognitive seizure with dissociation

A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure.


Spinal cord calcifications

The presence of calcium deposition in the spinal cord.


Unilateral ulnar hypoplasia

Underdevelopment of the ulna on only one side.


Accelerated atherosclerosis

Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.


In situ pulmonary artery thrombosis

Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease.


Central Y-shaped metacarpal

A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal.


Frontal polymicrogyria

A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum.


Painful subcutaneous lipomas

The presence of multiple subcutaneous lipoma that cause pain.


Abnormal vascular physiology

Abnormality of vascular function.


Abnormal toe morphology

An anomaly of a toe.


Focal impaired awareness cognitive seizure with dyscalculia/acalculia

A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure.


Fused cervical vertebrae

A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.


Purulent sputum

Sputum contains pus.


head and neck paraganglioma

A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas.


Irregular epiphysis of the proximal phalanx of the hallux


Abnormality of the vertebral column

Any abnormality of the vertebral column.


Arcuate artery intima/media granulomatous arteriitis

A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.


Regional right ventricular hypokinesis

Decreased range of right ventricular motion in a portion of the right ventricle of the heart.


Glomerular obsolescence

Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium.


Small epiphyses of the 5th finger

Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms.


Impairment of activities of daily living

Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.


Absence of alpha granules

A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears.


Abnormal respiratory motile cilium physiology

Any functional anomaly of the respiratory motile cilia.


Fragmentation of the epiphysis of the distal phalanx of the 4th toe


Apical hypertrophic cardiomyopathy

Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.


Abnormal metatarsal epiphysis morphology

Any abnormality of a metatarsal bone epiphysis.


Aplasia of the vestibule

Complete absence of the vestibule of the inner ear.


Frontal release signs

Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.


Bracket epiphysis of the distal phalanx of the 2nd finger

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


Chess-pawn distal phalanges

A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.


Arachnoid granulation

Arachnoid granulations (AGs) are tufts of arachnoid membrane invaginated into the dural sinuses through which cerebrospinal fluid (CSF) enters the venous system. The lesions are primarily located in the parasagittal region along the superior sagittal sinus, which is occasionally seen at the transverse sinus. Normally dural venous sinus AGs typically range from 2 to 8 mm in size, but may grow enough to expand the dural sinuses, and even the inner table, diploic space and outer table of the skull.


Interlobular vein intima/media granulomatous venulitis

A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.


Morphological abnormality of the saccule


Anti-ARHGAP26 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26).


Dural ectasia

A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.


Long clavicles

Increased length of the clavicles.


Intracranial epidermoid cyst

A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development.


Chronic oral candidiasis

Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.


Insufficient response to short acting pulmonary vasodilator

No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide.


Recurrent skin infections

Infections of the skin that happen multiple times.


EEG with central sharp waves

EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec.


Aplasia/Hypoplasia of the phalanges of the thumb


Flared humeral metaphysis

Flaring (increase of width with a splayed appearance) of the humeral metaphysis.


Aplasia/Hypoplasia of the phalanges of the 5th finger.


congenital total pulmonary venous return anomaly

Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.


Focal autonomic seizure with urge to urinate/defecate

A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature.


Anti-glycyl tRNA-synthetase antibody positivity

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


Progressive cervical vertebral spine fusion


Abnormality of the distal phalanx of the 4th finger


dyschromatosis universalis hereditaria

A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.


Cortical radial artery neutrophil hypercellularity

A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries.


Abnormality of bladder morphology

Any structural anomaly of the bladder.


Preauricular skin tag

A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).


Abnormality of superior crus of antihelix

An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.


anodontia

Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth.


EEG with occipital sharp slow waves

EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


Diastomatomyelia

Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum.


Feather allergy

Hypersensitivity in form of an adverse immune reaction against feathers.


Abnormality of the epiphysis of the 2nd metacarpal

Any abnormality of the epiphysis of the second metacarpal bone.


Severe lactic acidosis

A severe form of lactic acidemia.


Acral ulceration

A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.


Laryngeal hemangioma

A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions.


periventricular nodular heterotopia

Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.


Nonprogressive muscular atrophy

Muscular atrophy that does not display a progression in severity with time.


Low posterior hairline

Hair on the neck extends more inferiorly than usual.


Whole-immunoglobulin paraproteinemia

An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells.


Primary Caesarian section

Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section.


Abnormal macrophage morphology

An abnormality of macrophages.


Reduced sympathetic expression

A reduction in showing sympathy to others, such as providing comfort when someone is sad or crying.


Increased HDL2b concentration

An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.


Abnormal pectoral muscle morphology

An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major.


Triangular shaped proximal phalanx of the hallux


hyperglycinuria

An increased concentration of glycine in the urine.


Cerebral germinoma

The presence of a germ cell tumor of the cerebrum.


Bullet-shaped phalanges of the 3rd finger

A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Stippling of the epiphysis of the distal phalanx of the 5th finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger.


pretibial dystrophic epidermolysis bullosa

Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region.


Obstipation

Obstipation is the inability to pass either stool or flatus (gas).


Abnormal ankle physiology

A functional anomaly of the ankle.


Abnormality of the second metatarsal bone


Head-banging

Habitual striking of one's own head against a surface such as a mattress or wall of a crib.


Umbilical cord hematoma

Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels.


Abnormality of the hairline

The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.


Abnormality of the breast

An abnormality of the breast.


Short 3rd finger

Hypoplastic/small 3rd (middle) finger.


phosphohydroxylysinuria

An elevated concentration of phosphohydroxylysine in the urine.


Abnormal uvula morphology

Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.


Sloping ulnar metaphysis

A sloped configuration of the metaphysis (shaft) of the ulna.


Bicoronal synostosis

Synostosis affecting the right and the left coronal suture.


Bilateral renal atrophy

A two-sided form of atrophy of the kidney.


respiratory tract neoplasm

A benign or malignant, primary or metastatic neoplasm involving the respiratory tract.


Cone-shaped epiphysis of the distal phalanx of the 4th finger

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


Curved middle toe phalanx

A deviation from the normal straight form of one or more middle toe phalanges.


Separate origin of the left anterior descending and left circumflex artery

Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA).


Foam cells

The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.


Recurrent upper respiratory tract infections

An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).


Dacryocytosis

Presence of teardrop-shaped red blood cells.


Abnormal ureter physiology

A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.


Abasia

A severe form of gait ataxia such that an affected person cannot walk at all.


Low-frequency hearing loss

A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).


Tracheal hemorrhage

Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy.


Obsessive-compulsive trait

The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.


Delayed pubic bone ossification

Delayed maturation and calcification of the pubic bone.


Abnormal circulating hepcidin concentration

Any deviation from the normal concentration of hepcidin in the blood circulation.


Irregular epiphyses of the 3rd finger

Irregular radiographic opacity of the epiphyses of the 3rd finger.


Focal impaired awareness motor seizure with negative myoclonus

A focal motor seizure with negative myoclonus characterized by impairement of awareness at some point during the seizure.


Caudal appendage

The presence of a tail-like skin appendage located adjacent to the sacrum.


Increased circulating free T4 concentration

An elevated concentration of free thyroxine (fT4) in the blood circulation.


Enlarged metacarpal epiphyses

Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges).


Abnormal blood monovalent inorganic cation concentration

An abnormality of monovalent inorganic cation homeostasis.


Bouchard's node

Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.


Stereotypical hand wringing

Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement.


Abnormal VLDL cholesterol concentration

Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.


Cryofibrinogenemia

Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin.


angular cheilitis

Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts.


ochronosis disorder

A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis.


Broad nasal tip

Increase in width of the nasal tip.


Prominent antitragus

Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.


Leydig cell insensitivity to gonadotropin


Delayed humeral epiphyseal ossification

A delay in the process of formation and maturation of the humeral epiphysis.


Decreased serum insulin-like growth factor 1

A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.


Neutrophilic urticarial dermatosis

A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present.


Spina bifida occulta at S1

The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.


Decreased amyloid beta 42 peptide CSF concentration

A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).


Abnormality of the synovia

Any structural anomaly of the synovium, which is a membrane that lines the cavity of synovial joints and consists of a lining layer of macrophage-like synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective tissue. Synovial cells are thought to contribute to joint homeostasis by secreting various factors such as hyaluronic acid and lubricin important for joint lubrication and function, as well as disposing of the waste products.


Infection due to encapsulated bacteria

An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines.


Abnormal earlobe morphology

An abnormality of the lobule of pinna.


Anti-tyrosyl-tRNA synthetase antibody positivity

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


Involuntary movements

Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.


Ambiguous genitalia, female

Ambiguous genitalia in an individual with XX genetic gender.


Smoker-inclusions in alveolar macrophages

In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits.


palatal neoplasm

A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula.


Abnormal humerus morphology

Any anomaly of the structure of the humerus.


Livedo racemosa

Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming.


Arcuate artery intima/media arteriitis

Inflammation of the inner or middle layer of the arcuate arteries of the kidney.


Recurrent upper and lower respiratory tract infections

Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.


hyper-beta-alaninemia

Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case.


Paroxysmal vertigo

Paroxysmal episodes of vertigo.


Pigmentation anomalies of sun-exposed skin


Renal tubular cytomegalovirus inclusions

Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages.


Diaphragmatic paralysis

The presence of a paralyzed diaphragm.


Anomalous origin of one pulmonary artery from ascending aorta

Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.


prolactin deficiency, isolated

Subnormal concentration of prolactin.


Abnormal superior vena cava morphology

Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart.


Bronchial artery dilatation

Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm.


Enlarged epiphysis of the distal phalanx of the thumb

Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.


Patchy sclerosis of the distal phalanx of the thumb

An uneven increase in bone density of the distal phalanx of the thumb.


Opposable triphalangeal thumb

A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.


Functional abnormality of the gastrointestinal tract

Abnormal functionality of the gastrointestinal tract.


Bilateral facial palsy

Two-sided or bilateral weakness of the muscles of facial expression and eye closure.


Abnormality of the musculoskeletal system

An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.


Increased proportion of CD25+ mast cells

An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).


Excessive interest in others

An unusually strong interest in others in general or tendency to develop a strong interest in certain individuals.


Abnormal platelet function

Any anomaly in the function of thrombocytes.


Increased circulating creatine kinase BB isoform

An increased concentration of the BB isoform of creatine kinase in the blood circulation.


Abnormal circulating vitamin B6 level

An abnormal concentration of vitamin B6 in the blood circulation.


Anti-phenylalanyl tRNA synthetase antibody positivity

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


Abnormal esophagus physiology

Any physiological abnormality of the esophagus.


Poor conversational reciprocity

Reduced ability to conduct a reciprocal (back and forth) conversation, as expected for language level. May be characterized by deficits in the ability to make comments about discussion topics of others, failure to ask questions, and not building a conversation on comments of others. Affected persons may not know what to say next in a conversation, may not notice if others are bored with a given topic, may conduct a one-sided conversation (talking but not listening), or may veer off topic more than is socially acceptable.


A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus.


Tubo-ovarian abscess

A tubo-ovarian abscess (TOA) is a complex infectious mass of the adnexa that forms as a sequela of pelvic inflammatory disease.


Morphological abnormality of the corticospinal tract

Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.


EEG with central focal spikes

EEG with focal sharp transient waves of a duration less than 80 msec in the central region.


Arcuate vein medial/intimal liquefactive necrosis

A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


Abnormality of the trapezium

An anomaly of trapezium.


Focal motor seizure with dystonia

A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures.


Mucus plug

Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection.


Aplasia/Hypoplasia of the sweat glands

Absence or developmental hypoplasia of the sweat glands.


Absent epiphysis of the proximal phalanx of the 2nd toe


Patchy hypopigmentation of hair

Reduced pigmentation of hair in patches.


Generalized weakness of limb muscles

Generalized weakness of the muscles of the arms and legs.


Aortic arch calcification

Calcification, that is, pathological deposition of calcium salts in the arch of aorta.


Decreased post-bronchodilator forced expiratory volume in one second

An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication.


Glomerular subendothelial widening

Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material.


astrocytoma (excluding glioblastoma)

A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma.


Aplasia of the distal phalanx of the thumb

Absence of the distal/terminal phalanx of the thumb.


Increased serum leptin

An increased concentration of leptin in the blood.


Anti-islet antigen-2 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2.


cafe au lait spots, multiple

A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.


Giant neutrophil granules

The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation.


Orange discolored tonsils

A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.


Metacarpal diaphyseal endosteal sclerosis

Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.


Abnormal cardiac exercise stress test

Abnormal results of exercise on heart function.


Triangular shaped distal phalanges of the toes


Congenital palmoplantar hyperkeratosis

Abnormal thickening of the skin on the palms and soles that is present at birth.


Linear C3 deposits along the epidermal basement membrane zone

Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.


Abnormal circulating osteocalcin level

A deviation from the normal concentration of osteocalcin in the blood circulation.


Aplasia/Hypoplasia of the gallbladder

Absence or underdevelopment of the gallbladder.


Portosystemic collateral veins

Presence of biliary veins that serve as a collateral channel to the systemic circulation


Recurrent sinopulmonary infections

An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.


Short proximal phalanx of finger

Congenital hypoplasia of one or more proximal phalanx of finger.


Sclerosis of the proximal phalanx of the 3rd finger


Abnormal circulating citrulline concentration

Any deviation from the normal concentration of citrulline in the blood circulation.


Unusual infection

A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.


Decreased circulating hepcidin concentration

Concentration of hepcidin in the blood circulation below the lower limit of normal.


Pseudoepiphyses of the metacarpals

A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone.


Aplasia of the nasal bone

Absence of the nasal bone.


Interstitial cardiac fibrosis

A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.


short stature due to primary acid-labile subunit deficiency

Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.


Abnormal circulating proteinogenic amino acid concentration

An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.


Membranous subvalvular aortic stenosis

Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency.


Cerebellar glioma

A glioma affecting the cerebellum.


Spinal dysraphism

A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.


Abnormal facial skeleton morphology

An abnormality of one or more of the set of bones that make up the facial skeleton.


2-3 finger syndactyly

Syndactyly with fusion of fingers two and three.


Abnormal substantia nigra morphology

A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry.


Decreased specific antibody response to protein vaccine

A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination.


Cardiac fibroma

A fibroma of the heart.


Hypoplastic posterior communicating artery

A developmental anomnaly characterized by underdevelopment of the posterior communicating artery.


Abnormality of cranial sutures

Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.


Stippling of the epiphyses of the hallux

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux.


Cervical agenesis

Congenital absence of the cervix.


Sterile pyuria

Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.


Bacterial encephalitis

Encephalitis caused by bacterial infection.


Tapered finger

The gradual reduction in girth of the finger from proximal to distal.


Focal cortical dysplasia type IIIc

A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis).


Irregular epiphyses of the proximal phalanges of the hand


Calcium nephrolithiasis

The presence of calcium-containing calculi (stones) in the kidneys.


Shoulder extension contracture

Lack of the full expected passive range of flexion of the shoulder joint (Shoulder flexion puts the arms from a resting position at one's sides to straight above the head; thus, with shoulder extension contracture it is not possible to raise the arms above the head fully).


Myoclonic absence status epilepticus

Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG.


Fine hair

Hair that is fine or thin to the touch.


Abnormality of the epiphyses of the middle phalanges of the hand


Small epiphysis of the proximal phalanx of the 5th finger

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


Premature fusion of phalangeal epiphyses

Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.


Short femoral neck

An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).


Aggression toward non caregivers

Aggression that is directed towards non-caregivers.


Distended jugular lymphatic sacs

The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency.


Hyperpigmented papule

A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.


Sweet craving

Excessive desire to eat sweet foods.


Impaired platelet adhesion

An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation.


T-cell lymphoma/leukemia

A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas.


Shortening of all metacarpals

Abnormal reduction in length of all metacarpal bones.


Hepatic amyloidosis

A form of amyloidosis that affects the liver.


Abnormal sex hormone-binding globulin level

A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood.


Enuresis diurna

Enuresis occurring during waking hours of the day.


Mixed demyelinating and axonal polyneuropathy


Rhizomelic leg shortening

Disproportionate shortening of the proximal segment of the leg (i.e. the femur).


Jaw hyporeflexia

Reduced intensity of muscle tendon reflexes in jaw.


Abnormal columella morphology

A structural abnormality of the columella.


Abnormality of the integument

An abnormality of the integument, which consists of the skin and the superficial fascia.


Mesoaxial foot polydactyly

The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.


Jumping

An excessive frequency of jumping in place.


primary pulmonary lymphoma

Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG).


Abnormal cardiac test

Abnormal test result of cardiovascular physiology.


Reduced quantity of Von Willebrand factor

Decreased quantity of von Willebrand factor.


commissural lip pits

A depression located at an oral commissure.


Few cafe-au-lait spots

The presence of two to five cafe-au-lait macules.


Long foot

Increased back to front length of the foot.


Small intestinal hamartoma

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


Electrical alternans

The QRS complexes of the electrocardiogram alternate in height.


Vascular ring

A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.


epididymal neoplasm

A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma.


Gait ataxia

A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.


Triangular epiphyses of the 2nd finger

A triangular appearance of the epiphyses of the 2nd finger of the hand.


Aplasia/Hypoplasia of the nails

Aplasia or developmental hypoplasia of the nail.


Hypertrophy of the lower limb

Abnormal increase in size of the lower limbs (due to an increase of the size of cells).


Elevated CSF hydroxyproline concentration


Partial duplication of the middle phalanx of the 2nd finger

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


Pain insensitivity

Inability to perceive painful stimuli.


Hand pain

An unpleasant sensation characterized by physical discomfort localized to the hand.


Aplasia of the proximal phalanx of the 4th toe


Globus pallidus hypointensity on susceptibility-weighted imaging

Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI).


Hyperglycorrhachia

Abnormally high glucose concentration in the cerebrospinal fluid.


Crumpled ear

Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.


Abnormal pigmentation of the oral mucosa

An abnormality of the pigmentation of the mucosa of the mouth.


Focal hyperkinetic seizure

A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements.


Cortical thickening of humeral diaphysis


Coccidioidal meningitis

A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges.


Focal impaired awareness head nodding automatism seizure

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


Multiple long-bone exostoses

Multiple exostoses originating in long bones.


Enlarged epiphysis of the distal phalanx of the 5th toe


ovarian sex cord-stromal tumor

A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor.


Diaphragmatic weakness

A decrease in the strength of the diaphragm.


Anti-myelin oligodendrocyte glycoprotein antibody positivity

Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.


Cautious gait

Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen.


Congenital earlobe sinuses

Pits in the earlobes at the location where ears are typically pierced for earrings.


Abnormal serum estrone

A deviation from the normal concentration of circulating estrone.


Irregular epiphysis of the proximal phalanx of the 2nd finger


Brachiocephalic artery aneurysm

An abnormal widening (dilatation) of the brachiocephalic artery


EEG with hyperventilation-induced focal epileptiform discharges

Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Anti-phosphatidyl ethanolamine antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine.


Sandal gap

A widely spaced gap between the first toe (the great toe) and the second toe.


Duplication of phalanx of 5th finger

This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


patent ductus venosus

A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).


Anal pain

Pain in and around the anus or rectum (perianal region).


Duplication of the proximal phalanx of the 3rd toe

Partial or complete duplication of proximal phalanx of third toe.


isolated focal cortical dysplasia type II

A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.


Anterior predominant pachygyria with 5-10 mm cortical thickness

Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.


Delayed patellar ossification

Formation of bone in the patella later than normal.


Abnormality of urine homeostasis

An abnormality of the composition of urine or the levels of its components.


Enlarged proximal interphalangeal joints


Focal aware motor seizure

A type of focal motor seizure in which awareness is retained throughout the seizure.


Abnormal circulating dicarboxylic acid concentration

Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation.


physical urticaria

A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously.


Elevated haptoglobin level

An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation.


transient myeloproliferative syndrome

A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.


Absent nares

The nostrils (the paired channels of the nose) are not present.


Focal impaired awareness verbal automatism seizure

A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset.


Hypoplasia of the brainstem

Underdevelopment of the brainstem.


Abnormal doll's eye reflex

The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage.


Intratubular light-chain casts

The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules.


Muscle abnormality related to mitochondrial dysfunction


Thoracic aorta calcification

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


Lip telangiectasia

Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.


Corneal amyloidosis

A form of amyloidosis that is located in the cornea.


Abnormal hemoglobin concentration

Any deviation from the normal concentration of hemoglobin in the blood.


Abnormal circulating pyrimidine concentration

Any deviation from the normal concentration of a pyrimidine in the blood circulation.


pulmonary agenesis

An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities.


Primary amenorrhea

Abnormally late or absent menarche in a female with normal secondary sexual characteristics.


Increased glucose-6-phosphate dehydrogenase level in tissue

An increase in the level of glucose-6-phosphate dehydrogenase in tissue.


Recurrent infections due to aspiration

Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.


Glomerular endocapillary neutrophil hypercellularity

Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.


Generalized joint laxity

Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body.


Increased CSF urate concentration

Increased concentration of urate in the cerebrospinal fluid.


Duplication of the middle phalanx of the 3rd toe

Partial or complete duplication of middle phalanx of third toe.


acute biphenotypic leukemia

An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)


Bullet-shaped distal phalanges of the hand

Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Aplasia of the maxilla

A congenital defect characterized by absence of the Maxilla.


spondylolysis

A defect in the pars interarticularis of a vertebral bone.


Small epiphysis of the proximal phalanx of the 4th toe


complement component 4a deficiency

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene.


Entrapment neuropathy of suprascapular nerve

An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region.


Absent epiphyses of the thumb

Absence of one or more epiphyses of the thumb.


Motor neuron atrophy

Wasting involving the motor neuron.


Short thumb

Hypoplasia (congenital reduction in size) of the thumb.


Sclerosis of the distal phalanx of the hallux


Focal impaired awareness autonomic seizure with urge to urinate/defecate

A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure.


Abnormal lung development

A structural defect associated with abnormal development of the lung.


Triangular epiphysis of the middle phalanx of the 5th finger

A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


aortic valve prolapse

The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation.


Hyperparakeratosis

Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.


Aplasia of the phalanges of the toes

Absence of a digit or of one or more phalanges of a toe.


Small intestinal polyp

A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.


Coxa magna

Widening of the femoral head and neck.


Joint contracture of the 4th finger

Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected.


Single raphe bicuspid aortic valve

A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.


Complete duplication of the distal phalanx of the 2nd toe

Complete duplication of the distal phalanx of second toe.


Hairshafts with longitudinal grooves

Long narrow depressions running lengthwise in hairshafts. This feature can be appreciated by scanning electron microsopy.


Elongated superior cerebellar peduncle

Increased length of the superior cerebellar peduncle.


Abnormal mitral valve physiology

Any functional anomaly of the mitral valve.


Palmoplantar scaling skin

Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.


Proximal symphalangism of hands

The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.


Parietal meningocele

A herniation of meninges through a congenital bone defect in the skull in the parietal region.


Absent epiphysis of the proximal phalanx of the 4th toe


Pulmonary hamartoma

A benign malformation of the lung that includes an abnormal mixture of tissue components such as cartilage, epithelium, fat, or muscle which are common to the lung but without preservation of the organ architecture.


Temporomandibular joint crepitus

Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound.


Abnormality of the urethra

An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.


Proximal/middle symphalangism of the 2nd finger

Fusion of the proximal and middle phalanges of the 2nd finger.


Focal impaired awareness autonomic seizure with lacrimation

A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure.


Holosystolic murmur

A heart murmur that occurs during the entire systolic phase from S1 to S2.


Scalp tenderness

Pain or discomfort of the scalp elicited by palpation.


Abnormal response to human chorionic gonadotrophin stimulation test

An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors.


nevus, epidermal

A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed.


Abnormal atrioventricular valve morphology

An abnormality of an atrioventricular valve.


visual agnosia

An inability to recognize or interpret objects by sight.


Abnormal nasal mucus secretion

Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.


Asymptomatic hyperammonemia

An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.


Abnormal plasmablast proportion

A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination.


Small trapezium

Underdevelopment of the trapezium.


Knee clonus

Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.


Chronic (near) absent circulating IgG3

A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured.


beta-aminoisobutyric acid, urinary excretion of

An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine.


Medullary peritubular capillary lumen organized thrombi

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


Ivory epiphysis of the distal phalanx of the 3rd toe


Gallbladder dyskinesia

Reduced motility of the gallbladder with reduced emptying fraction.


supravalvular aortic stenosis

SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.


Generalized arterial tortuosity

Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.


Short phalanx of finger

Short (hypoplastic) phalanx of finger, affecting one or more phalanges.


Elbow clonus

Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint.


Tetralogy of Fallot with absent pulmonary valve

Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.


Ureterovesical junction obstruction

Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle.


Elevated urinary N-acetylaspartic acid level

Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry.


Absent P wave

The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present.


Areflexia of lower limbs

Inability to elicit tendon reflexes in the lower limbs.


Osteolytic defects of the phalanges of the hallux


Class I obesity

Obesity with a body mass index of 30 to 34.9 kg per square meter.


Abnormal capillary physiology

A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.


Peripheral axonal degeneration

Progressive deterioration of peripheral axons.


Fractured elbow

A partial or complete breakage of the elbow.


Abnormal tragus morphology

An abnormality of the tragus.


Bullet-shaped phalanges of the hand

The presence of short and wide phalanges which taper distally ("bullet shaped").


Abnormal skin morphology of the palm

An abnormality of the skin of the palm, that is, the skin of the front of the hand.


Dilated third ventricle

An increase in size of the third ventricle.


Hip pain

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


Anti-Y-box protein-1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1.


Shovel-shaped maxillary central incisors

A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces.


Aplasia/Hypoplasia involving the femoral head and neck


Decreased number of large peripheral myelinated nerve fibers

A reduced number of large myelinated nerve fibers.


Unsteady gait

A shaky or wobbly manner of walking.


Absence of intrinsic factor

Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.


Lumbar hypertrichosis

Excessive, increased hair growth located in the lumbar region.


Abnormal renal morphology

Any structural anomaly of the kidney.


Hypoprolinemia

A decreased amount of proline in the blood.


Abnormal gastric mucosa morphology

An abnormality of the gastric mucous membrane.


Lateral spinal meningocele

Protrusion of the arachnoid and dura through spinal foramina.


Abnormal Bowman space morphology

Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron.


palmar fibromatosis

A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males.


Aplasia/hypoplasia involving forearm bones

Absence (due to failure to form) or underdevelopment of one or more forearm bones.


Anti-Ku antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku.


Bullet-shaped proximal phalanges of the hand

Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction.


Abnormality of exocrine pancreas physiology

A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.


Oligoclonal elevation of circulating IgM

An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase.


Irregular epiphysis of the middle phalanx of the 2nd toe


Sarcomatoid carcinoma of the tongue

Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation.


Grade I preterm intraventricular hemorrhage

Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove.


Anomalous origin of the left common carotid artery from the main pulmonary artery

The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery.


Jamais vu aura

A subjective feeling that an experience which has occurred before is being experienced for the first time.


Decreased circulating 18-hydroxycortisone level

A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation.


Pes cavus

An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).


Anesthetic-induced rhabdomylosis

Rhabdomyolysis induced by anesthesia.


Elevated circulating hepcidin concentration

Concentration of hepcidin in the blood circulation above the upper limit of normal.


Xanthomas of the palmar creases

The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.


Decreased cystatin C level

A decreased concentration of cystatin C in the blood circulation.


Abnormal proportion of memory B cells

A deviation of the normal proportion of memory B cells in circulation relative to 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).


Anti-GM1 antibody positivity

Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury


Right ventricular cardiomyopathy

Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.


Fractured lower limb segment

A partial or complete breakage of the lower limb segment.


hemidystonia

A multifocal dystonia that involves the arm and leg on the same side of the body.


Irritability

A proneness to anger, i.e., a condition of being easily bothered or annoyed.


Abnormal pulmonary artery morphology

An abnormality of the structure of the pulmonary artery.


Anti-desmoglein-3 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule.


Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact.


Increased proportion of plasmablasts

An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells.


Metatarsus valgus

A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.


Hippocampal sclerosis

Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus.


Dysplasia of the superior cerebellar vermis

A type of cerebellar dysplasia that affects the upper part of the cerebellar vermis.


Congenital panfollicular nevus

A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation.