Abnormality of the proximal phalanx of the 4th finger


White oral mucosal macule

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A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.


Abnormal speech rate

Speech that is abnormally fast or slow


Hepatic granulomatosis

The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.


Anti-endothelin-1 type A receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor.


Abnormality of the ankle

An anomaly of the joint that connects the foot with the leg.


inherited threoninemia

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

An increased concentration of threonine in the blood.


Curved toe phalanx

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


Intralamellar mucoid extracellular matrix accumulation

A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units.


thoracic aortic aneurysm

An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.


Circulating nucleated red blood cells

The presence of nucleated red blood cells in the peripheral blood circulation.


Auditory sensory seeking

Pursuit of specific sounds or noises that is abnormal in intensity and/or frequency.


Neonatal focal myoclonic seizure

Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally.


Sensorimotor polyneuropathy affecting arms more than legs


Motor tics

Movement-based tics affecting discrete muscle groups.


Hypoxemia in cord blood

An abnormally low level of blood oxygen in the cord blood.


Abnormal metencephalon morphology

An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.


Disproportionate shortening of the tibia


Flat nasal alae

An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae).


EEG with generalized slow activity grade 1

Slowing at frequencies between 7.5 and 8.5 Hz.


Undulate clavicles

An abnormally wavy surface or edge of the clavicles.


Reduced residual volume

Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation.


Erythroid hypoplasia

Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.


inborn glycerol kinase deficiency

An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.


Fibular bowing

A bending or abnormal curvature of the fibula.


polyposis of gastric fundus without polyposis coli

Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps.


Irregular epiphysis of the proximal phalanx of the 5th finger

Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger.


Premature coronary artery atherosclerosis

Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.


Abnormal direction of ventricular apex

Abnormal plane of direction of the heart from the base to the apex. Left sided is normal.


nodular cutaneous amyloidosis

Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome.


Elevated circulating sacchoropine concentration

An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine.


Hernia of the abdominal wall

The presence of a hernia in the abdominal wall.


Oligodactyly

A developmental defect resulting in the presence of fewer than the normal number of digits.


Lumbosacral hemangioma

A spinal cord hemangioma located in the lumbosacral spine region.


Abnormal palm morphology

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


Acquired abnormal hair pattern

An abnormality of the distribution of hair growth that is acquired during the course of life.


Extrahepatic portal hypertension

Increased pressure in the pre-hepatic portal vein.


Adrenocortical cytomegaly

The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.


Monorchism

Having only one testis in the scrotum.


Progressive clavicular acroosteolysis

Progressive bone resorption in the distal part of the clavicle.


Focal polymicrogyria

Polymicrogyria affecting one or multiple small areas of the cerebral cortex.


EEG with series of focal spikes

Focal spikes occurring for several seconds.


Phantageusia

A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment.


Short proximal phalanx of the 5th finger

Hypoplastic/small proximal phalanx of the fifth finger.


Aplasia/hypoplasia of the 1st metatarsal

Absence or underdevelopment of the first metatarsal bone.


Abnormal motor neuron morphology

Any structural anomaly that affects the motor neuron.


Abnormal pineal morphology

A structural abnormality of the pineal gland.


Deep white matter hypodensities

Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter.


Flat glenoid fossa

Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.


Complete duplication of the distal phalanx of the 5th finger

Complete duplication of the distal phalanx of little finger.


Phonophobia

An abnormally heightened sensitivity to loud sounds.


Concave nasal ridge

Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.


Postural instability

A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.


Osteolytic defects of the 1st metatarsal

Dissolution or degeneration of bone tissue of the first metatarsal.


Abnormality of hair growth rate

Hair whose growth rate deviates from the norm.


polymorphic ventricular tachycardia

A ventricular tachycardia that is irregular in rate and rhythm.


Frequent Giardia lamblia infestation

Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.


Distal/middle symphalangism of 3rd finger

Fusion of the terminal/distal and middle phalanges of the 3rd finger.


Small epiphysis of the middle phalanx of the 3rd finger

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


Absent thumb

Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.


Abnormal alpha granule distribution

An anomalous location and arrangement of platelet alpha granules.


Focal impaired awareness myoclonic seizure

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


Recurrent mandibular subluxations

Recurrent partial dislocations of the mandible.


Triangular epiphysis of the proximal phalanx of the 5th toe


Abnormal circulating bilirubin concentration


Aplasia of the 5th finger

Absent 5th (little) finger.


Generalized muscle weakness

Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.


Abnormal internal carotid artery morphology

An abnormality of an internal carotid artery.


fibrous hamartoma of infancy

A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern.


Focal impaired awareness vocal 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 meaningless vocal sounds such as shrieks or grunts at onset.


Microtia, second degree

Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear.


Small epiphysis of the proximal phalanx of the hallux


Abnormal erythrocyte adenosine triphosphate concentration

Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) outside of the normal range.


EBV encephalitis

Inflamation of the brain related to infection by Epstein-Barr virus.


Abnormal hypothalamus morphology

Any structural anomaly of the hypothalamus.


Osteolytic defects of the phalanges of the 5th toe


otosclerosis

Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs.


Orthostatic syncope

Syncope following a quick change in position from lying down to standing.


Narrow nasal base

Decreased distance between the attachments of the alae nasi to the face.


Abnormal cortical radial artery endothelium morphology

Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.


Probst bundles

Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles.


Uterine myxoma

A myxoma (tumor of primitive connective tissue) localized to the uterus.


CSF polymorphonuclear pleocytosis

An increased polymorphonuclear cell count in the cerebrospinal fluid.


Aplasia/Hypoplasia of the musculature of the thigh

Absence or underdevelopment involving the musculature of the thigh.


Neonatal electrographic only seizure

Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation.


Epidermal thickening

Thickening of the epidermal layer of the skin.


Abnormal prosody

Abnormalities in the patterns of rhythm, stress, or intonation of speech or vocalization.


Anti-myelin-associated glycoprotein antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG).


Abnormal CSF isoleucine concentration

Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid.


EEG with hyperventilation-induced epileptiform discharges

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


Irregular ossification of the radial metaphysis


Episodic hemiplegia

Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.


Talipes calcaneovalgus

Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.


Unexplained fevers

Episodes of fever for which no infectious cause can be identified.


Delayed proximal femoral epiphyseal ossification

Developmental delay of ossification of the proximal epiphysis of the femur.


glycine encephalopathy

Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.


Double inlet to single ventricle of indeterminate morphology

The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle.


Supraventricular tachycardia with a concealed accessory pathway on the right free wall


Abnormal platelet ATP dense granule secretion

Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP).


Excessive bleeding from superficial cuts

An abnormally increased degree of bleeding following a superfical injury to the surface of the skin.


Abnormality of the hypothenar eminence

An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger).


Abnormality of the crus of the helix

An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear.


Focal T2 hypointense basal ganglia lesion

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


Acute esophageal necrosis

A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction.


optic nerve sheath meningioma

A meningioma that affects the sheath of the optic nerve.


Elevated circulating 3-hydroxylinoleylcarnitine concentration

Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation.


Hypoplasia of the midbrain

A developmental defect characterized by underdevelopment of the mesencephalon.


Abnormal palate morphology

Any abnormality of the palate, i.e., of roof of the mouth.


Lack of peer relationships

The state of not having relationships with peers outside of school or organized activity appropriate to developmental level. This may be caused by behavioral or physical barriers.


Abnormal cardiomyocyte dystrophin staining

Anomalous staining of dystrophin in cardiomyocytes.


Trophic limb changes

Trophic changes occurring in a limb.


Macroprolactinoma

A pituitary prolactin cell adenoma of more than 10 mm diameter.


Aplasia/Hypoplastia of the eccrine sweat glands

Absence or developmental hypoplasia of the eccrine sweat glands.


voice disorders

A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis.


Abnormality of folate metabolism

An abnormality of the metabolism of folic acid, which is also known as vitamin B9.


Type II truncus arteriosus

Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus.


central polydactyly of fingers

The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly.


Abnormal internal genitalia

An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).


Glomerular basement membrane wrinkling

Irregular folding of the glomerular basement membrane with an intact lamina densa.


Osteolytic defect of thumb phalanx

Dissolution or degeneration of bone tissue of one or more phalanges of the thumb.


Anomalous origin of the left circumflex artery from the right coronary artery

An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA).


Small for gestational age

Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.


Somatosensory-induced seizure

A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise.


Cortical radial artery intimal mucoid edema

Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.


Abdominal obesity

Excessive fat around the stomach and abdomen.


isolated familial wooly hair disorder

Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.


Abnormality of nasalis muscle

An abnormality of a nasalis muscle.


Abnormality of circulating cortisol level

An abnormality of the concentration of cortisol in the blood.


Nailfold capillary tortuosity

An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels.


Decreased level of heparin co-factor II

An abnormality of coagulation related to a decreased concentration of heparin co-factor II


Gallop rhythm

In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse.


Reduced functional residual capacity

An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation.


Civatte bodies

Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant


patent foramen ovale

A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes.


Lateral venous anomaly

Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life.


Entrapment neuropathy of the ulnar nerve at elbow

An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand.


Abnormal epiphysis morphology of the phalanges of the hand

Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).


Decreased circulating free fatty acid level


Vulvar hemangioma

A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva.


Pseudoepiphysis of the middle phalanx of the 2nd toe

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


Enlarged fetal cisterna magna

The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637).


Abnormal interpretation of external stimuli

Abnormal perception of reality is characterized by an abnormal or inaccurate experience of external stimuli.


Sclerosis of the middle phalanx of the 3rd finger


Submandibular lymph node enlargement

Increased size of the lymph nodes that are located beneath the mandible (lower jaw).


Addictive gambling behavior

The act of taking chances or engaging in behaviors without restraint, typically involving the wagering of something valuable, in pursuit of acquiring something of higher value.


Abnormal cardiovascular system physiology

Abnormal functionality of the cardiovascular system.


Sclerosis of 5th toe phalanx

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


Neonatal focal tonic seizure

Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes.


Pituitary gonadotropic cell adenoma

A type of pituitary adenoma that produces gonadotropins.


Vacuolated hepatocytes

Presence of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in hepatocytes, which normally rarely contain vacuoles.


Bracket epiphysis of the proximal phalanx of the 2nd finger

An abnormality of the proximal 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.


Distal ulnar epiphyseal stippling

The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.


osteoarthritis, hip

Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion.


Reduced epidermal bullous pemphigoid antigen 1 protein expression

Lower than normal amount of bullous pemphigoid antigen 1 (BP230) in the epidermis.


Abnormal location of ears

Abnormal location of the ear.


Elevated forced expiratory volume in one second

An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject.


Dysplastic corpus callosum

Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.


Agenesis of permanent molar

Agenesis of secondary molar tooth.


Hypoisoleucinemia

A decreased amount of isoleucine in the blood.


Incomplete partition of the cochlea type I

Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation.


Unusual infection by anatomical site

An unusual infection classified by the affected body part.


Aplasia/Hypoplasia of the distal phalanx of the 4th finger


Progressive flexion contractures

Progressively worsening joint contractures.


Curved hallux phalanx

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


Abnormality of bone mineral density

This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.


progressive osseous heteroplasia

A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.


Impaired ADP-induced platelet aggregation

Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.


Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity

Activity or concentration of in the level of galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12) in erythrocytes below the lower limit of normal.


Increased glucose-6-phosphate dehydrogenase level in leukocytes

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


Elevated CD4-positive, CD25-positive regulatory T cell count

An increased number of CD4-positive, CD25-positive regulatory T cells.


Agenesis of permanent mandibular lateral incisor


Colonic stenosis

A narrowing of a segment of colon whereby bowel continuity is maintained.


Abnormality of depressor labii inferioris

An abnormality of a depressor labii inferioris.


hypnic headache

Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes.


Respiratory infections in early life

Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.


Abnormal dermatoglyphics

An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.


Fat malabsorption

Abnormality of the absorption of fat from the gastrointestinal tract.


Elevated circulating soluble CD25 concentration

Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response.


Abnormal arcuate vein lumen morphology

Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney.


sea-blue histiocyte syndrome

A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.


Ubiquitin-positive cerebral inclusion bodies

Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain.


Increased T cell count

An abnormal increase in the total number of T cells detected in the blood.


Seizure precipitated by febrile infection

Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.


Scapular muscle atrophy

Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.


Neck flexor weakness

Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).


Abnormal mean corpuscular volume

A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.


Stiff shoulders

Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity.


Abnormal phalangeal joint morphology of the hand


Abnormal proportion of central memory CD8-positive, alpha-beta T cells

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


McConnell sign

Severe hypokinesia of the mid-free wall of the right ventricle of the heart with a normal contraction of the apical segment of the right ventricle.


Malaligned philtral ridges

Absence of the usual parallel position of philtral ridges.


Sonographic non-visualized fetal bladder

Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation.


Shoulder adduction contracture

A type of shoulder contracture characterized by a chronic reduction in the active and passive ability to abduct the shoulder. This results in the shoulders being closer to midline. The affected individual is not able to position the shoulders away from the body.


Ketotic hypoglycemia

Low blood glucose is accompanied by elevated levels of ketone bodies in the body.


Abnormal glucagon level

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


Shuffling gait

A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.


Neck pterygia

Pterygia affecting the neck.


Complete duplication of the distal phalanx of the 2nd finger

Complete duplication of the distal phalanx of index finger.


Focal aware pedal automatism seizure

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


Hypereosinophilia

A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter.


Hypoplastic fifth fingernail

A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.


univentricular heart

Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.


Focal impaired awareness hemiclonic seizure

A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.


Asparaginuria

An increased concentration of asparagine in the urine.


Lower limb undergrowth

Leg shortening because of underdevelopment of one or more bones of the lower extremity.


Impaired visually enhanced vestibulo-ocular reflex

The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR).


isolated sulfite oxidase deficiency

Abnormally reduced sulfite oxidase level.


Absent bronchoalveolar surfactant-protein C

Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region.


Pseudoepiphysis of the distal phalanx of the 5th toe


Bifid uterus

The presence of a bifid uterus.


Progressive bowing of long bones

Progressive bending or abnormal curvature of a long bone.


Long fibula

Disproportionately long fibulae.


Abnormal QRS voltage

Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).


Elevated circulating oleylcarnitine concentration

Increased concentration of oleylcarnitine in the blood circulation.


Anti-Ro/SS-A antibody positivity

The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens.


NREM parasomnia

A parasomnia that occurs during non-rapid eye movement (NREM) sleep.


Irregular septal thickening on pulmonary HRCT

Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture.


Fractured epiphysis

A partial or complete breakage of the epiphysis.


Abnormality of palatoglossus muscle

An abnormality of a palatoglossus muscle.


Contracture of the metatarsophalangeal joint of the 4th toe

The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively.


hypersplenism

Overactive functioning of the spleen, resulting in excessive destruction of blood cells.


Abnormal 3rd finger morphology

An anomaly of the third finger.


The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210.


Sclerosis of 3rd toe phalanx

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


Cone-shaped epiphyses of the distal phalanges of the hand


Abnormality of joint mobility

An abnormality in the range and ease of motion of joints across their normal range.


Transient decreased circulating IgG2

A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation.


Cardiac rhabdoid tumor

A rare and aggressive neoplasms developing mainly in the kidney but also in cerebral and extra-cerebral tissues and rarely in the heart. Histologically, rhabdoid renal and extrarenal tumors share common characteristics. The cells are polygonal, with eccentric, vesicular nuclei and prominent nucleoli, eosinophilic cytoplasmic inclusions. The tumors have an infiltrative growth pattern, necrosis, and high proliferative index. The immunohistochemistry tools of investigation facilitate differential diagnosis by showing loss of INI-1 expression, usually accompanied by germline mutations of the SMARCB1 gene. When INI-1 is still expressed in the affected tissues, a rhabdoid tumor with SMARCA4 mutations should be considered.


Complete duplication of the distal phalanx of the 3rd finger

Complete duplication of the distal phalanx of middle finger


Decreased glucose-6-phosphate dehydrogenase level in red blood cells

A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells.


Intracranial internal carotid artery dissection

A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall.


Aplasia/Hypoplasia of the distal phalanx of the 5th toe


Unilambdoid synostosis

Premature synostosis of only one lambdoid suture.


Typical absence seizure

A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.


Negativism

Opposing or not responding to instructions or external stimuli.


Synostosis of thumb phalanx

Fusion of a phalanx of the thumb with another bone.


Enlarged epiphysis of the 1st metacarpal

Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms.


Increased sexual behavior

Engaging in riskier sexual practices, experiencing a significant increase in frequency, having multiple sexual partners, or spending excessive time on sexual activities can become disproportionate to other aspects of a person's life.


Tessier number 8 facial cleft

The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae.


Sclerotic humeral metaphysis with longitudinal striations


Tics

Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement.


Delayed eruption of permanent teeth

Delayed tooth eruption affecting the secondary dentition.


Bullet-shaped middle toe phalanx

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


Abnormal finger morphology

An anomaly of a finger.


Anti-Sj/ITPR1 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor.


Abnormal foot bone ossification

An abnormality of the formation and mineralization of any bone of the skeleton of foot.


Spermiation failure

Spermiation failure is indicated by apparently normal spermiogenesis, but the presence of retained Sd2 spermatids in stages III-V of human spermatogenesis, whereas maturation arrest is indicated by a lack of late Sd1 and Sd2 spermatids in the epithelium.


Decreased circulating IgG level

An abnormally decreased level of immunoglobulin G (IgG) in blood.


Hyposerinemia

Reduced concentration of serine in the blood.


Thickened Achilles tendon

An abnormal thickening of the Achilles tendon.


Increased fetal lens echogenicity

Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus.


Fracture blister

Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn.


Sleep enactment

A sleep disorder in which one physically acts out one's dreams without awareness of the physical actions.


Hyperintensity of MRI T2 signal of the spinal cord

A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.


Aplasia of the proximal phalanx of the 5th toe


Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe


Small hypothenar eminence

Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.


Cutis marmorata

A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.


Abnormality of the middle phalanx of the 4th finger


Alaninuria

An increased level of alanine in the urine.


Cortical peritubular capillaritis

Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.


Amyotrophy of ankle musculature

Atrophy of the muscles of the ankle.


Occipital cortical atrophy

Atrophy of the occipital cortex.


Mild proteinuria

Mildly increased levels of protein in the urine (150-500 mg per day in adults).


Glomerular pseudocrescent

Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact.


Abnormal number of permanent teeth

The presence of an altered number of of permanent teeth.


Renal tubular epithelial cell hyaline droplets

Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell.


Subcutaneous lipoma

The presence of subcutaneous lipoma.


Prominent veins on trunk

Prominent thoracic and abdominal veins.


Osteolytic defects of the distal phalanx of the 4th finger

Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger.


Fragmentation of the epiphyses of the hallux


EEG with generalized slow activity

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


Class II obesity

Obesity with a body mass index of 35 to 39.9 kg per square meter.


Large earlobe

Increased volume of the earlobe, that is, abnormally prominent ear lobules.


Renal cortical hyperechogenicity

Increased echogenecity of the kidney cortex.


Bilateral trilobed lung

Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.


Neuronal loss in basal ganglia

A reduction in the number of nerve cells in the basal ganglia.


Pulmonary air embolism

Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation.


Absence of lymph node germinal center

Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.


Aplasia of the right hemidiaphragm

Congenital absence of the right-sided diaphragm.


Hypoplastic distal radial epiphyses

Underdevelopment of the distal epiphysis of the radius.


Aplasia of the distal phalanx of the 5th toe


1-3 toe syndactyly

Syndactyly with fusion of toes one to three.


Neonatal hypoproteinemia

A neonatal decreased concentration of proteins in the blood.


Bridged palmar crease

A crease that connects the proximal and distal transverse palmar creases.


Abnormal knee morphology

A structural abnormality of the knee joint or surrounding structures.


Increased proportion of naive CD8 T cells

An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells.


Increased HDL3b concentration

An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.


Increased circulating progesterone

An elevated concentration of progesterone in the blood.


Steroid-sensitive nephrotic syndrome with infrequent relapses

A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period.


skin vascular disease

A disease that involves the superficial vasculature.


Abnormality of the incus

An abnormality of the incus, an ossicle in the middle ear.


Aplasia/hypoplasia of the extremities

Absence (due to failure to form) or underdevelopment of the extremities.


Bilateral wrist flexion contracture

A chronic loss of wrist joint motion on the right and left sides.


celiac artery stenosis from compression by median arcuate ligament of diaphragm

A vascular compression syndrome attributed to celiac trunk compression by the median arcuate ligament of the diaphragm, with presentations ranging from completely asymptomatic to myriad gastrointestinal symptoms, including chronic abdominal pain (CAP), post-prandial pain, nausea and vomiting, anorexia, early satiety, and subsequently weight loss.


Triangular epiphyses of the distal phalanges of the hand


Glenoid fossa hypoplasia

Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.


Cone-shaped epiphysis of the distal phalanx of the 2nd finger

A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd 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.


Focal aware autonomic seizure with erection

A focal autonomic seizure with erection characterized by retained awareness throughout the seizure.


Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine

A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.


synovial sarcoma

Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).


Focal manual automatism seizure

A type of focal automatism seizure characterized by manual automatisms at onset.


Nasal flaring

Widening of the nostrils upon inhalation as a manifestation of respiratory distress.


infantile digital fibromatosis

A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions.


Vascular malformation of the lip

An anomaly of blood vessels located in the lip.


Multiple rib fractures

More than one fracture of the ribs.


Aplasia/Hypoplasia of the distal phalanges of the toes

Absence or underdevelopment of the distal phalanges of the toes.


Osteomyelitis leading to amputation due to slow healing fractures


Abnormal arterial physiology

An anomaly of arterial function.


Trifascicular block

Abnormal conduction in all three divisions of the intraventricular conducting tissue.


Glomerular parietal epithelial cell hypertrophy

An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present


Abnormal CSF lactate concentration

Abnormal concentration of lactate in the cerebrospinal fluid.


Loud snoring

Snoring at a particularly loud or abnormally high volume.


Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains.


Congenital hydrocele

Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through.


Fetal megacystis

Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.


Equinus calcaneus

Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.


Pseudoepiphysis of the middle phalanx of the 4th toe

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


Aplasia/hypoplasia of the proximal phalanx of the 4th toe

Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe.


Anti-GM4 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4.


Abnormal dermoepidermal junction morphology

Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments.


Abnormal layering of muscularis propria

Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer.


Complex febrile seizure

A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.


Hypodipsia

Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.


Abnormal circulating calcium concentration

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


Decreased numbers of nephrons

A reduction in the count of nephrons per kidney.


Bracket epiphysis of the proximal phalanx of the hallux

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


Abnormality of the calcaneus

An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.


Centrilobular emphysema

A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones.


Crus of helix connected to antihelix

Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix.


Downturned corners of mouth

A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.


Arcuate vein lumen organized thrombi

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


Copper accumulation in liver

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


Overfolded helix

A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.


Ivory epiphysis of the proximal phalanx of the hallux


Abnormal thorax morphology

Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).


Joint subluxation

A partial dislocation of a joint.


Pseudoepiphysis of the 4th metacarpal

The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.


Complete duplication of phalanx of hand

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


Abnormal cardiac ventricle morphology

An abnormality of a cardiac ventricle.


laurin-Sandrow syndrome

Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.


Nevus roseus

A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life.


Pulmonary pneumatocele

A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung.


Displacement of the papillary muscles

Abnormal location of the insertion of a papillary muscle into the left ventricular wall.


Total anosmia

Inability to detect any qualitative olfactory sensation.


Abnormality nasal septum cartilage morphology

An abnormality of a cartilage of nasal septum.


Legg-Calve-Perthes disease

A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible.


Submucous cleft lip

A cleft of the lip with overlying mucous membrane.


EEG with focal epileptiform discharges

EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Abnormal glomerular basement membrane morphology

Any abnormal sttructure of the glomerular basement membrane.


Rubral tremor

Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.


Fusiform abdominal aortic aneurysm

A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall


Tip-toe gait

An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.


Abnormality of the upper respiratory tract

An abnormality of the upper respiratory tract.


Irregular myelin loops

Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.


adenoiditis

An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil.


Small epiphysis of the proximal phalanx of the 3rd finger

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


Lower limb muscle weakness

Weakness of the muscles of the legs.


Asplenia

Absence (aplasia) of the spleen.


chondrosarcoma

A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.


Abnormal circulating fetuin A concentration

Any deviation from the normal concentration of fetuin A in the blood circulation.


Decreased circulating apolipoprotein A-II concentration

Concentration of apolipoprotein A-II below the lower limit of normal.


Cone-shaped epiphysis of the distal phalanx of the 2nd toe


Abnormal peripheral myelination

An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.


Addictive cannabis use

A persistent and compulsive need to use cannabis, despite negative consequences.


Increased proportion of CD4-positive, alpha-beta memory T cells

An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


Congenitally corrected transposition of the great arteries with ventricular septal defect

A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum.


spinal cord neoplasm

A neoplasm (disease) that involves the spinal cord.


Absent epiphyses of the 2nd finger

Absence of the epiphyses of the 2nd finger.


Thick corpus callosum

Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.


Osseous syndactyly of toes

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


Complete duplication of the distal phalanx of the 5th toe

Complete duplication of the distal phalanx of little toe.


Orthodromic atrioventricular reentrant tachycardia

A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction.


Renal interstitial deposits

Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney.


Abnormal head blood vessel morphology

An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head.


Increased anti-animal dander IgE antibody level

Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats.


Abnormal morphology of ulna

Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger.


Sleep-related breathing disorders

Conditions of abnormal and difficult respiration during sleep, including chronic snoring and sleep apnea.


Mandibular hyperostosis

Hyperostosis (bony overgrowth) of the mandible.


Serpiginous cutaneous lesion

A skin lesion with a snake- or serpent-like distribution.


Vaginal hydrocele

A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable.


neoplasm of jaw

A neoplasm (disease) that involves the jaw skeleton.


Hip flexor weakness

Reduced ability to flex the femur, that is, to pull the knee upward.


Abnormal common carotid artery morphology

An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery.


Esophageal myenteric plexus degeneration

Deterioration of the cells of the myenteric plexus (also known as the Auerbach plexus) located between the layers of the muscular propria of the esophagus.


Glomerular basement membrane disruption

A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver.


Epileptic encephalopathy

A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.


hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine.


Leukocytoclastic vasculitis

A type of vasculitis characterized by the presence of debris of neutrophils within the blood vessel walls.


Recurrent vulvovaginal candidiasis

Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.


Arcuate vein medial/intimal necrosis

Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney.


Dentin dysplasia

This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications.


Gray matter heterotopia

Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.


Pseudoepiphysis of the distal phalanx of the 4th finger

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


Episodic hemolytic anemia

A form of hemolytic anemia that occurs in repeated episodes.


Clinical course

The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.


Lymph node hypoplasia

Underdevelopment of the lymph nodes.


Hallux rigidus

Osteoarthritis of the metatarsophalangeal joint of the first toe.


Pretibial hyperpigmentation

Darkening of the area of skin that overlies the shin.


Generalized clonic seizure

Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.


Abnormal fibula morphology

An anomaly of the calf bone (fibula), one of the two bones of the calf.


Bullet-shaped middle phalanx of the 5th toe

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


Enlarged epiphyses of the 5th finger

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


Increased hepatic glycogen content

An increase in the amount of glycogen stored in hepatocytes compared to normal.


Metacarpophalangeal synostosis

Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.


Aplasia involving bones of the upper limbs


Triangular epiphysis of the proximal phalanx of the 3rd finger

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


Decreased CSF amyloid concentration

Reduced concentration of amyloid in the cerebrospinal fluid (CSF).


ganglioglioma

A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)


Prominent nucleoli of renal tubular epithelial cells

Tubular epithelium with nucleoli clearly visible at 100-fold magnification.


Abnormality of the abdominal wall

The presence of any abnormality affecting the abdominal wall.


Low anterior hairline

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


Pancreatic islet cell adenoma

The presence of an adenoma of the pancreas with origin in a pancreatic B cell.


Abnormal aortic arch morphology

An anomaly of the arch of aorta.


Abnormality of the epiphyses of the proximal phalanges of the hand


Platypnea

A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position.


Ectopic accesory toe-like appendage

In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).


Bullet-shaped distal phalanx of the 5th 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 5th finger is affected.


Exogenous lipoid pneumonia

A type of lipoid pneumonia in which the source of the lipids is external to the body.


Absent first metatarsal

A developmental defect characterized by the absence of the first metatarsal bone.


Decreased emotional expression

Reduced frequency or subdued emotional behaviors like crying, laughter, and smiling, making the individual appear apathetic or disinterested.


basal ganglia disorder

A disease involving the basal ganglia.


Complete or near-complete absence of specific antibody response to meningococcus vaccine

The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.


Congenital abnormal hair pattern

A congenital abnormality of the distribution of hair growth.


Bilateral ulnar hypoplasia

Underdevelopment of the ulna on both sides.


Fetal neck anomaly

A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


Limited pronation/supination of forearm

A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).


Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.


Munchausen by proxy

A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others.


Poroma

A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273].


Decreased level of carnosine in blood

A decreased amount of carnosine in bood.


Decerebrate rigidity

A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.


Renal tubular epithelial cell simplification

Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts.


Abnormality of the epiphyses of the 3rd finger

Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger.


Gastrointestinal granulomatosis

The presence of multiple granulomas in the gastrointestinal tract (Pylorus, esophagus, jejunum, ileum, cecum, rectum, perirectal area, esophagus) as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.


Upper extremity akinesia

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


Hypoplastic thumbnail

A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.


Aborted sudden cardiac death

Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.


Abnormal renal collecting system morphology

An abnormality of the renal collecting system.


Non-acidotic proximal tubulopathy

A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.


Abnormal pulmonary fissure architecture

An abnormal form or location of a pulmonary fissure.


Excessive dental attrition

A higher than expected amount of attrition of teeth, as menifested by loss of tooth characteristics including rounding or sharpening of incisal edges, loss of cusps, and fracturing of teeth, to an extent that is deemed more than would be expected at a given age.


nasopharyngeal neoplasm

A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma.


Contracture of the metatarsophalangeal joint of the 5th toe

The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively.


Perioral hyperpigmentation

Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.


Fractured maxilla

A partial or complete breakage of the maxilla.


gamma-heavy chain disease

Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases.


Granulomatosis

A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.


Triceps hyperreflexia

Increased intensity of the triceps reflex.


Brachioradialis hyporeflexia

Reduced intensity of the brachioradialis tendon reflex.


Bracket epiphysis of the proximal phalanx of the 3rd finger

An abnormality of the proximal 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.


Suicide behaviors

Suicide attempts or preparations


High insertion of columella

Insertion of the posterior columella superior to the nasal base.


Compulsive stealing

Irresistible impulses to take easily affordable items.


Trichodysplasia

Developmental dysplasia of the hair.


Abnormal circulating glutamate concentration

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


Type 3 congenital pulmonary airway malformation

A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance.


Abnormal nasopharynx morphology

A structural anomaly of the nasopharynx.


Impaired tactile sensation

A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.


Increased myocardial glycogen content

Elevated amount of glycogen in the myocardium.


Quadricuspid aortic valve

The presence of an aortic valve with four instead of the normal three cusps (flaps).


Multidrug-resistant nephrotic syndrome

A form of nephrotic syndrome that does not respond to any immunosuppresive treatment.


Recurrent acute respiratory tract infection

A history of repeated acute infections of the upper or lower respiratory tract.


Focal aware emotional seizure with anger

Focal emotional seizure with anger in which awareness is retained throughout.


Brown pigment gallstones

A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.


Small epiphyses of the phalanges of the hand

Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.


Temporal hypotrichosis

Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).


Bullet-shaped proximal toe phalanx

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


Abnormality of the epiphyses of the 4th toe


Alveolar capillary dysplasia

A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis.


Recurrent thromboembolism

Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.


platelet aggregation, spontaneous

Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.


Pseudoepiphysis of the proximal phalanx of the 4th finger

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


Abnormality of secondary sexual hair

Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.


Interlobular septal thickening

Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.


Impaired cortisol response to glucagon stimulation test

Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test.


Severe infection

A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.


Reduced epidermal extracellular matrix protein 1 protein expression

Lower than normal amount of extracellular matrix protein 1 (ECM1) in the epidermis.


Focal impaired awareness motor seizure

A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure.


Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes


Hypoplastic sweat glands

Underdevelopment of the sweat glands.


Lower limb dysmetria

A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg.


Aplasia of the proximal phalanx of the 4th finger

Absence of the proximal phalanx of the ring (4th) finger.


Agenesis of maxillary central incisor

Agenesis of upper secondary incisor or of upper central primary incisor.


Amegakaryocytic thrombocytopenia

Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.


Pulmonary situs inversus

Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus.


Abnormal lingual nerve morphology

Any structural anomaly of a lingual nerve.


Deep cerebral white matter hyperintensities

Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.


Glomerular deposits

An abnormal accumulation of protein in the glomerulus.


Reduced natural killer cell activity

Reduced ability of the natural killer cell to function in the adaptive immune response.


Bloody mucoid diarrhea

Passage of many stools containing blood and mucus.


Ureteral duplication

A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.


Dilatation of the tricuspid annulus

An increase in the diameter of the ring (annulus) of the tricuspid valve.


Aplasia of metacarpal bones

Developmental defect associated with absence of one or more metacarpal bones.


Localized skin lesion

A lesion of the skin that is located in a specific region rather than being generalized.


Unroofed coronary sinus

Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion.


Apical muscular ventricular septal defect

A muscular ventricular septal defect located at the apex of the heart.


Spherocytosis

The presence of erythrocytes that are sphere-shaped.


Type 1 schizencephaly

A type of Schizencephaly in which there is a trans-mantle column of abnormal grey matter but no evidence of a CSF-containing cleft on MR imaging.


Reduced circulating prekallikrein concentration

Reduced concentration of prekallikrein (PK; also known as Fletcher factor) in the blood circulation. PK is the precursor of plasma kallikrein, a serine protease that activates kinins. PK is cleaved to produce kallikrein by activated Factor XII.


Brachioradialis areflexia

Inability to elicit brachioradialis tendon reflex.


Fractured clavicle bone

A partial or complete breakage of the clavicle bone.


Gowers sign

A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.


Abnormal retinol-binding protein level

A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol.


Abnormal large intestine morphology

Any abnormality of the large intestine.


communicating hydrocephalus

An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations.


Anti-Zinc transporter 8 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8.


Abnormal cochlea morphology

An abnormality of the cochlea.


Glycogen accumulation in pulmonary interstitial cells

Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells.


Pseudoepiphysis of the 1st metacarpal

The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.


Sacral meningocele

A congenital abnormality in the sacral region of the spine, in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.


Glomerular basement membrane amyloid spicule

Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains.


Triangular epiphyses of the metacarpals

A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals.


Pulmonary cylindroma

A cylindroma located in the lung. Cylindromas are well-circumscribed, smooth, pale pink nodular tumors, often with arborizing vessels visible. The tumors are slow growing and vary in size from a few millimeters to over 5 mm.


Fusiform cerebral aneurysm

A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.


congenital pulmonary sequestration

A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation.


Abnormal size of pituitary gland

A deviation from the normal size of the pituitary gland.


vagus nerve paraganglioma

A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia.


Insulin-resistant diabetes mellitus

A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.


Anal intraepithelial neoplasia

Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.


Paroxysmal lethargy

Repeated episodes of sudden-onset and transient lethargy.


Erlenmeyer flask deformity of the femurs

Flaring of distal femur.


Extralobar sequestration

A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura.


Increased alpha-globulin

An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant.


Anti-Ma1 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1.


Plantar edema

An abnormal accumulation of fluid beneath the skin on sole of the foot.


Closed neural tube defect

A type of neural tube defect that is covered by skin.


megaloblastic anemia, folate-responsive

A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate.


Foot polydactyly

A kind of polydactyly characterized by the presence of a supernumerary toe or toes.


Cone-shaped epiphysis of the distal phalanx of the 3rd toe


Obstructive azoospermia

Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.


histidinuria due to a renal tubular defect

An increased concentration of histidine in the urine.


Inferior crossed fused renal ectopia

A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position).


Abnormal lateral ventricle morphology

A morphological anomaly of the lateral ventricle.


Atrophy/Degeneration affecting the cerebrum

The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.


Microtia, first degree

Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.


testicular microlithiasis

The deposition of calcium phosphate microliths within the seminiferous tubules.


Abnormal cortical radial artery morphology

Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney.


Focal aware motor seizure with dysarthria/anarthria

A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure.


Cerebral artery atherosclerosis

The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain.


Abnormal aggressive, impulsive or violent behavior


Anomaly of the upper limb diaphyses

A structural abnormality of a diaphysis of the arm.


Pulmonary arterial plexiform lesion

Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels.


Febrile status epilepticus

A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.


Non-periodic recurrent fever

Episodic fever that recurs at irregular intervals.


Aplasia of the left hemidiaphragm

Congenital absence of the left half of the diaphragm.


C3 nephritic factor positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).


Abnormal neuron morphology

A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.


Satyr ear

Sharp pointed superior portion of the ear, with variable overfolding of the helix.


Abnormal reproductive system morphology

A structural or developmental anomaly of any of the tissues involved in the genital system.


2-4 finger syndactyly

Syndactyly with fusion of the fingers two to four.


Elevated right ventricular systolic pressure

Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg.


Small hand

Disproportionately small hand.


Epileptic aura

An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure.


Paroxysmal dyspnea

A sudden attack of dyspnea that occurs while the affected person is at rest.


Postaxial foot polydactyly

Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.


Abnormal CSF carboxylic acid concentration

Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid.


hyperalphalipoproteinemia

An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.


Focal impaired awareness manual 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 manual automatisms at onset.


Narrow greater sciatic notch

A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.


Osteolytic defects of the proximal phalanges of the hand


Fractures, Open

A traumatic break to the bone in which the continuity of the bone has broken through the skin.


Focal aware non-motor seizure

A focal non-motor seizure in which awareness is retained throughout the seizure.


Fractured phalanx of pes

A partial or complete breakage of the phalanx of pes.


malignant ear neoplasm

A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear.


Increased urine glutamate level

An increased concentration of glutamate in the urine.


Nodular-perilymphatic pattern on pulmonary HRCT

A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution.


precocious puberty in female

A precocious puberty that involves the female organism.


Abnormal urinary acylglycine profile

An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution.


Stippling of the epiphysis of the distal phalanx of the 2nd toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe.


Scanning speech

An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.


Prominent stem of antihelix

Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix.


Ventricular septal aneurysm

A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion.