Abnormal fetal gastrointestinal system morphology

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


Facial diplegia

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


Slow-growing hair

Hair whose growth is slower than normal.


Small placenta

Reduced size of the placenta.


agenesis of cerebral white matter

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


No social interaction

Lack of intentional participation in interactions with another person.


Right ventricular noncompaction cardiomyopathy

A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.


Cervical subluxation

A partial dislocation of one or more intervertebral joints in the cervical vertebral column.


Cavum septum pellucidum

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


Beaking of vertebral bodies

Anterior tongue-like protrusions of the vertebral bodies.


Pharyngalgia

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat.


Abnormal 3rd metacarpal morphology

Any abnormality of the third metacarpal bone.


Focal motor seizure with dysarthria/anarthria

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


Osteolytic defects of the phalanges of the 2nd toe


EEG with generalized slow activity grade 4

EEG without electrical activity.


Focal aware sensory seizure with somatosensory features

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


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


Astasia

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


Pancreatic islet-cell hyperplasia

Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.


Abnormal CD25 upregulation upon TCR activation

Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression.


EEG with focal spike waves

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


Duplication of the distal phalanx of the 4th toe

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


hidradenitis suppurativa

A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident.


Emotional insecurity

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


Hypoplasia of the ventral pons

Underdevelopment of the ventral portion of the pons.


Woolly scalp hair

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


Abnormal nail growth

Nail whose growth pattern or speed deviates from normal.


Podagra

Gout affecting the Metatarsophalangeal joint of big toe.


Abnormal T cell morphology

An abnormality of T cells.


Immunologic hypersensitivity

Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.


Abnormality of the intrinsic pathway

An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.


Childhood-onset short-trunk short stature

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.


Pseudoepiphysis of the distal phalanx of the 2nd finger

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


Increased urine phenylacetylglutamine level

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


Pseudobulbar behavioral symptoms

Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.


Maternal vascular malperfusion

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


Cloacal abnormality

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


Metacarpal synostosis

Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).


Abnormal hyoid bone morphology

Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra.


CSF hemophagocytosis

Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the cerebrospinal fluid (CSF).


ankylosis

Fixation and immobility of a joint.


Renal malrotation

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


aganglionosis, total intestinal

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


Gliosis

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


Elevated hepatic iron concentration

An increased level of iron in liver tissues.


Pretibial myxedema

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


Abnormal CSF tryptophan concentration

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


Abnormal calcification of the carpal bones


Fractured sternal end of clavicle

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


Symphalangism affecting the distal phalanx of the 2nd toe


Chronic calcifying pancreatitis

A form of chronic pancreatitis that is characterized by calcification.


Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries

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


Cerebellar Purkinje layer atrophy

Atrophy of the cerebellum affecting primarily the Purkinje cell layer.


Abnormality of the middle phalanx of the 2nd toe


Hypoplastic toenails

Underdevelopment of the toenail.


Fetal intraventricular hemorrhage

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


Posterior fossa cyst

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


Renal arteriole intima/media coagulative necrosis

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


ganglioneuroblastoma

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


Sacroiliac joint synovitis

Inflammation of the synovial membrane of the sacroiliac joint.


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


Darier's sign

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


Aplasia/Hypoplasia of the phalanges of the hallux


Increased glucose-6-phosphate dehydrogenase level in dried blood spot

An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.


Bilateral cleft palate

Nonmidline cleft palate on the left and right sides.


Increased cotinine level

Increased concentration of cotinine in urine.


Paradoxical insomnia

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


Perioral hyperkeratosis

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


Neoplasm by anatomical site

Neoplasm categorized according to the anatomical site of origin of the neoplasm.


Abnormal circulating unsaturated fatty acid concentration

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


Unilateral vertebral artery hypoplasia

Underdevelopment of the vertebral artery on one side.


Breast hypoplasia

Underdevelopment of the breast.


Frontotemporal hypertrichosis

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


Multiple unerupted teeth

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


Short sternum

Decreased inferosuperior length of the sternum.


Abnormal movements of face and head

Abnormal movements of face and head.


Abnormal jugular venous pressure

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


Pituitary spindle cell oncocytoma

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


Hereditary nonpolyposis colorectal carcinoma


olivopontocerebellar atrophy

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


Extrapyramidal muscular rigidity

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


Leukocyte migration defect

Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization.


Abnormal parietal bone morphology

Any abnormality of the parietal bone of the skull.


Impaired cortisol response to corticotropin releasing hormone stimulation test

Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test.


Long-chain dicarboxylic aciduria

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


Abnormal skeletal morphology

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


Sclerosis of proximal finger phalanx

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


Duplication of the proximal phalanx of the 4th finger

Partial or complete duplication of the fourth proximal phalanx of hand.


Hypocystinemia

A decreased amount of cystine in the blood.


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

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


Decreased circulating free T4 concentration

A reduced concentration of free thyroxine (fT4) in the blood circulation.


Unusual fungal infection

An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent.


Positive direct antiglobulin test

A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction.


Synostosis involving bones of the lower limbs

An abnormal union between bones or parts of bones lower limbs.


Complete duplication of the phalanges of the 4th finger

A complete duplication affecting one or more of the phalanges of the 4th finger. 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, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


Thin myocardium compact layer

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


Elevated urinary homovanillic acid

An increased concentration of homovanillic acid in the urine.


Recurrent bronchopulmonary infections

An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.


GM1 gangliosidosis

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


Anteriorly placed anus

Anterior malposition of the anus.


Progressive alopecia

Progressive loss of hair.


Abnormal lateral semicircular canal morphology


Juxtaductal coarctation of the aorta

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


Caput medusae

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


acute myelomonocytic leukemia M4

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


Mediosternal, longitudinal streak of hypopigmentation


Extra fontanelles

Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull.


Absent natural killer cells

Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.


Midline sinus of philtrum

Pit in the midline of the philtral groove.


Loud first heart sound

Abnormally increased volume of the first heart sound.


bicornuate uterus

The presence of a bicornuate uterus.


Renal artery duplication

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


Mildly reduced left ventricular ejection fraction

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


Methylmalonic aciduria

Increased concentration of methylmalonic acid in the urine.


Small epiphysis of the distal phalanx of the 4th toe


Focal head nodding automatism seizure

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


Hemifacial spasm

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


Abnormal renal corticomedullary differentiation

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


Partial absence of foot

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


periapical granuloma

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


Thick lower lip vermilion

Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).


Absent external genitalia

Lack of external genitalia in a male or female individual.


Olivary degeneration

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


Increased anti-house dust mite IgE antibody level

Increased level of IgE antibody against house dust mites, a common allergen.


Digital constriction ring

A narrow segment of significantly reduced circumference of a digit.


Abnormality of the male genitalia

Abnormality of the male genital system.


Thoracic ectopia cordis

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


brachydactyly type B1

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


Diffuse pulmonary lymphoid hyperplasia

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


Abnormal circulating IgA level

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


Bowing of the legs

A bending or abnormal curvature affecting a long bone of the leg.


Abnormal amyloid beta peptide CSF concentration

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


Flexion contracture of 3rd toe

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


Recurrent opportunistic infections

Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.


Decreased nasal nitric oxide

Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.


Intratubular vancomycin casts

Intratubular casts composed of vancomycin aggregates and uromodulin.


congenital non-bullous ichthyosiform erythroderma

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


Reduced contraction of the left ventricular apex

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


Abnormality of skull ossification

An abnormality of the process of ossification of the skull.


Acromelia

Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.


Decreased specific antibody response to polysaccharide vaccine

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


Ocular dyssynergia

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


Abnormal circulating long-chain fatty-acid concentration

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


Increased caudate lactate level

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


1-5 toe syndactyly

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


Recurrent gastroenteritis

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


Lower limb spasticity

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


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

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


Hypoornithinemia

An abnormal decrease in ornithine in the blood.


juvenile nasopharyngeal angiofibroma

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


Anti-glomerular basement membrane-antibody positivity

The presence of autoantibodies in the serum that react to the glomerular basement membrane.


Bracket epiphyses of the distal phalanges of the hand

An abnormality of the distal phalanges of the hand 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.


Abnormal oral morphology

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


Question mark ear

Cleft between the helix and the lobe.


Narrow foot

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


Abnormality of the epiphysis of the middle phalanx of the 3rd finger


Premature adrenarche

Onset of adrenarche at an earlier age than usual.


partial atrioventricular canal

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


Abnormal sperm tail morphology

A structural abnormality of the sperm tail.


Profound sensorineural hearing impairment

Complete loss of hearing related to a sensorineural defect.


Elevated pulmonary artery pressure

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


Left aortic arch with cervical origin of the right subclavian artery


Absent humerus

Missing humerus bone associated with congenital failure of development.


Abnormal cerebral subcortex morphology

An abnormality of the cerebral subcortex.


Necrotizing encephalopathy

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


Grade I vesicoureteral reflux

Vesicoureteral reflux into the ureter only.


Unilateral lump kidney

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


Focal aware atonic seizure

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


Pseudo-chilblains on toes

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


Tibialis muscle weakness

Muscle weakness affecting the tibialis anterior muscle.


Impaired social interactions

Difficulty interacting with others through emotional, physical, or verbal communication.


Anti-type VII collagen antibody

The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII.


Abnormal LDL cholesterol concentration

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


Delayed fracture healing

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


Multiple bladder diverticula

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


Pulmonary situs ambiguus

An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same.


Abnormal delayed hypersensitivity skin test

Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.


Hypoplastic L5 vertebral pedicle

Underdeveloped pedicle of the fifth lumbar vertebra.


Tall chin

Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.


Increased urinary taurine

Increased concentration of taurine in the urine.


Patchy sclerosis of 3rd finger phalanx

Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger.


Absent fourth finger distal interphalangeal crease

Absence of the distal interphalangeal flexion creases of the fourth finger.


Serpiginous stem of antihelix

Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha.


Atrial situs ambiguous

Common atrium without defining morphologic features.


Submucous cleft of soft and hard palate

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


Low-output congestive heart failure

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


Abnormal communicative facial expressions

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


Vertebral wedging

An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.


Absent frontal sinuses

Aplasia of frontal sinus.


Progressive sensorineural hearing impairment

A progressive form of sensorineural hearing impairment.


Decreased number of small peripheral myelinated nerve fibers


Sertoli cell tumor

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


Osteoporosis of vertebrae

Osteoporosis affecting predominantly the vertebrae.


Chronic (near) absent circulating IgG2

A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured.


Lack of nonverbal response to verbal cues

A consistent failure to nonverbally respond to verbal cues such as a failure to shift attention or look at the source of the cue.


Weakness of long finger extensor muscles


Neurofibrillary tangles

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


Abnormal circulating membrane cofactor protein concentration

Concentration of membrane cofactor protein in the blood circulation outside the limits of normal. Membrane cofactor protein (MCP, CD46) is a cell surface complement regulatory protein which acts as a cofactor for the factor I-mediated cleavage of the activated complement components C3b/C4b.


Long philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.


Hypoplasia of lymphatic vessels

Congenital underdevelopment of lymph vessels.


Incomplete cleft soft palate

Cleft soft palate in which the cleft doe not goes through the entire length of the soft palate.


Severe receptive language delay

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


Abnormal tubular basement membrane morphology

Abnormal structure of the basement membrane of the renal tubulus.


Abnormal myeloid leukocyte morphology

An abnormality of myeloid leukocytes.


Uterine cyst

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


Midline skin dimples over anterior/posterior fontanelles


Abnormal circulating glycine concentration

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


Anti-class I HLA antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C).


Asymmetric radial dysplasia

The presence of asymmetric developmental dysplasia of the radius.


Focal emotional seizure with agitation

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


White lesion of the oral mucosa

White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white.


Increased circulating metamyelocyte count

An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1.


Anti-BP180 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against BP180.


Patchy sclerosis of middle toe phalanx

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


Focal aware cognitive seizure

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


Erectile dysfunction

A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.


Blebbing of apical cytoplasm of renal tubular epithelial cells

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


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


Abnormal proportion of double-negative alpha-beta regulatory T cell

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


Aplasia/Hypoplasia of the pancreas

A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.


Abnormality of the epiphysis of the middle phalanx of the 4th finger


Hydromyelia

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


Lower extremity hypokinesia

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


Abnormal pineal melatonin secretion

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


Pseudoepiphysis of the proximal phalanx of the 3rd finger

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


Intention tremor

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


Pituitary growth hormone cell adenoma

A type of pituitary adenoma that produces growth hormone.


Maxillary lateral incisor microdontia

Decreased size of the maxillary permanent incisor.


Green teeth

A green staining of teeth.


Decreased circulating dehydroepiandrosterone-sulfate concentration

A reduced concentration of dehydroepiandrosterone-sulfate in the blood.


Decreased CSF glutamine concentration

Abnormally decreased levels of glutamine in cerebrospinal fluid.


Polyminimyoclonus

Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant.


Autoamputation of digits

The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.


Congenital posterior occipital alopecia

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


Permanent junctional reciprocating tachycardia

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


Short 3rd toe

Underdevelopment (hypoplasia) of the third toe.


Type III atherosclerotic lesion

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


Sclerotic radial metaphysis with longitudinal striations


Adrenocorticotropin deficient adrenal insufficiency

Adrenal insufficiency secondary to a defect in ACTH production.


Focal emotional seizure with fear/anxiety/panic

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


Flexion contracture of the hallux

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


Non-convulsive status epilepticus with coma

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


Abnormal brainstem white matter morphology

An anomaly of the white matter of brainstem.


Decreased CSF isoleucine concentration

Abnormally decreased levels of isoleucine in cerebrospinal fluid.


Impaired growth-hormone response to insulin stimulation test

Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).


Patchy sclerosis of the distal phalanx of the 3rd toe


Diminished motivation

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


Obtuse angle of mandible

Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.


Abnormality of the submandibular glands

Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles.


Thickening of the tubular basement membrane

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


Patella alta

Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea.


vulval varices

A varicose disease that involves the mammalian vulva.


Increased circulating globulin level

An abnormally elevated concentration of globulins in the blood.


Biliary tract obstruction

Obstruction affecting the biliary tree.


Postural hypotension with compensatory tachycardia


Sclerosis of the distal phalanx of the 3rd finger


Hashimoto thyroiditis

An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.


Parietal foramina

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


Abnormal pulmonary alveolar system development


Criss-cross atrioventricular valves

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


Increased number of elastic fibers in the dermis

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


Marked delay in eruption of permanent teeth


Increased anti-fungi IgE antibody level

Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota.


Pseudoepiphysis of the distal phalanx of the hallux


Abnormal finger flexion crease

Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger).


Malignant neoplasm of the central nervous system

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


Absent middle phalanx of 2nd finger

Absence of the middle phalanx of the index (2nd) finger.


Hemiareflexia

Areflexia that is limited to one side of the body.


Cervicomedullary schisis

Fissure within the spinal cord of the neck.


Midline hand movements

Hand stereotypies within the medial plane of the body.


Abnormal myeloid cell morphology

Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.


leiomyoma cutis

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


Peripheral amyelination

Congenital absence of the myelin sheath on a nerve.


Enlarged epiphysis of the distal phalanx of the 5th finger

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


Multiple digital exostoses

Multiple exostoses originating in the fingers and toes.


Aplasia of the distal phalanx of the 2nd finger


Hyaline membranes

Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult.


Abnormal left atrium morphology

Any structural abnormality of the left atrium.


Lingual thyroid

An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend.


Foot joint contracture

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


Absent neutrophil lactoferrin

The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production.


Irregular epiphysis of the middle phalanx of the 3rd toe


Renal tubular epithelial cell swelling

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


Focal hemifacial clonic seizure

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


Reduced forced vital capacity

An abnormal reduction in the amount of air a person can expel following maximal inspiration.


Enlarged epiphysis of the middle phalanx of the 2nd toe


Persistence of primary teeth

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


White forelock

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


histidinemia

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


Frontoethmoidal meningocele

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


Pseudoepiphysis of the 2nd finger

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


Pigment gallstones

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


follicular infundibulum tumor

A tumor involving the follicular infundibulum.


Medial arterial calcification

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


Aplasia/Hypoplasia of the inner ear

Aplasia or developmental hypoplasia of the inner ear.


Delayed upper limb epiphyseal ossification

A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs.


Decreased testicular size

Reduced volume of the testicle (the male gonad).


Fatigable weakness of skeletal muscles

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


Stiff skin

An induration (hardening) of the skin


Abnormal hair pattern

An abnormality of the distribution of hair growth.


Reduced proportion of CD4+ effector memory T cells

An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Reduced fetal femur/foot length ratio

This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors.


CNS foam cells

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


Pulmonary bulla

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


Premature epimetaphyseal fusion in radius

Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.


Elevated CSF chitotriosidase 1 concentration

Increased concentration of chitotriosidase 1 in cerebrospinal fluid.


Excess residual spermatozoal cytoplasm

Excess residual cytoplasm is associated with abnormal spermatozoa produced from a defective spermiation process. This abnormal excess cytoplasm should not be confused with more physiological cytoplasmic residues that can be observed in direct microscopy of the ejaculate but not in dried, fixed and stained morphology smears.


Elevated bronchoalveolar lavage fluid neutrophil proportion

Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases.


Complete duplication of the distal phalanx of the 4th toe

Complete duplication of the distal phalanx of fourth toe.


Thalamic arteriovenous malformation

An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus.


Splayed fingers

Divergence of digits along the A/P axis (in the plane of the palm).


Delayed myelination

Delayed myelination.


Triangular epiphysis of the distal phalanx of the 5th toe


Elevated urine 3-hydroxyglutaric level

The concentration of 3-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Hand oligodactyly

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


Interhypothalamic adhesion

An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle.


migraine with aura

A migraine disorder characterized by episodes that are preceded by focal neurological symptoms.


Abnormal serum estriol

A deviation from normal concentration of estriol in the circulation.


Unilateral multifocal epileptiform discharges

Epileptiform discharges being identified at multiple locations in one hemisphere.


Enlarged labia minora

Increase in size of the folds of skin between the outer labia.


Bullet-shaped distal phalanx of the 3rd toe

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


Motor impersistence

The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts.


Cutaneous atresia of the external auditory canal


Abnormal cranial nerve morphology

Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.


Blistering by histological location

Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa.


aceruloplasminemia

An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.


Abnormality of vitamin K metabolism

Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.


Elevated CSF dopamine concentration

Increased concentration of dopamine in the cerebrospinal fluid (CSF).


Sulfocysteinuria

A increased concentration of sulfocysteine in the urine.


Duplication of the distal phalanx of the 3rd toe

Partial or complete duplication of distal phalanx of third toe.


Recurrent bacterial meningitis

An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.


Hypochromia

A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.


Hyponatriuria

An abnormally decreased sodium concentration in the urine.


Age of death

The age group when the cessation of life happens.


Bullet-shaped proximal phalanx of the 3rd finger

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


Hypomature enamel

Enamel with a white or brown discoloration without hypoplasia.


Punctate vertebral calcifications

The presence of punctiform calcification of the bone of the vertebral bodies.


Femoral bowing

Bowing (abnormal curvature) of the femur.


Focal impaired awareness autonomic seizure with pupillary dilation/constriction

A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure.


Large for gestational age

The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.


Connective tissue nevi

Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.


Cortical radial artery lumen cholesterol emboli

Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


Right atrial enlargement

Increase in size of the right atrium.


Thigh hypertrophy

Muscle hypertrophy affecting the thighs.


Abnormal arcuate artery endothelium morphology

Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney.


Excessive dynamic airway collapse

Excessive anterior displacement of the tracheal and/or bronchial membranous wall.


Cat cry

The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.


Decreased platelet glycoprotein Ib-IX-V

Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V.


Abnormal dermis morphology

A structural anomaly of the dermis, the layer of skin that lies beneath the epidermis and above the subcutaneous layer.


Complete duplication of the distal phalanx of the hallux


Abnormality of the cochlear nerve

Any anomaly of the cohclear nerve, which is the part of the vestibulocochlear nerve that is responsible for transmitting auditory signals from the inner ear to the cochlear nuclei within the brainstem and ultimately to the primary auditory cortex within the temporal lobe.


Abnormal olecranon morphology

Any structural abnormality of the olecranon, a bony eminence of the proximal ulna.


Elevated myocardial native T2

Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema.


obstructive hydrocephalus

An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space.


Impaired renal tubular reabsorption of phosphate

Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption.


Pseudoepiphysis of the middle phalanx of the 4th finger

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


Cystocele

Anterior vaginal wall prolapse with bulging of the bladder into the vagina.


Curved proximal phalanx of the 5th toe

A deviation from the normal straight form of the proximal phalanx of the fifth toe.


Bifid tongue

Tongue with a median apical indentation or fork.


Neonatal short-trunk short stature

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth.


Increased density of long bones

An abnormal increase in the bone density of the long bones.


Malrotation of small bowel

A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.


Pterygium of nails

Inward advance of skin over the nail plate.


Pronoun reversal

Atypical language features characterized by first vs. second or third person pronoun errors such as using 'you' or 'he/she' in place of 'I'.


Male anorgasmia

Inability of a male to reach orgasm.


glutaric aciduria

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


Anti-annexin-V antibody positivity

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


Cochlear malformation

The presence of a malformed cochlea.


Abnormality of the tympanic membrane

An abnormality of the tympanic membrane


oral hairy leukoplakia

An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy.


Tarsal stippling

The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.


Osteoarthritis of the small joints of the hand


Reduced erythrocyte porphobilinogen deaminase activity

Activity or concentration of in the level of porphobilinogen deaminase (EC 4.3.1.8) in erythrocytes below the lower limit of normal.


Congenital defect of the pericardium

A developmental defect of the pericardium with congenital onset.


Fish odor

Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals.


Infantile axial hypotonia

Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy.


Convulsive status epilepticus

A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.


Ectopic ossification in ligament tissue

Formation of abnormal bony tissue within ligament tissue.


Recurrent viral infections

Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.


progressive bulbar palsy

Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.


Impaired T cell function

Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.


Abnormal concentration of acylcarnitine in the urine

An abnormal amount of acylcarnitine in the urine.


Increased level of propylene glycol in blood

An increase in the level of propylene glycol in the blood.


Hypoplasia of the cochlea

Developmental hypoplasia of the cochlea.


Carotid artery calcification

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


Receptive aphasia

A type of aphasia that is characterized by impaired language comprehension.


Symphalangism affecting the phalanges of the 5th toe


Increased mean corpuscular hemoglobin concentration

An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).


Bronchopulmonary sequestration

The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree.


Neonatal electro-clinical seizure

Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation.


Macronodular cirrhosis

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


EMG: myokymic discharges

The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding.


Scapular exostoses

The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.


Post-transfusion thrombocytopenia

Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.


Abnormal brainstem morphology

An anomaly of the brainstem.


Abnormal natural killer subset distribution

Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells.


Chronic partially decreased circulating IgG3

A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood.


Neutropenia in presence of anti-neutropil antibodies

A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.


Angioma serpentinum

Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis.


Renal intratubular casts

Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast.


Camptodactyly of finger

The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.


Focal impaired awareness motor seizure with paresis/paralysis

A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure.


Decreased proportion of gamma-delta T cells relative to the total number of T cells.


Trident hand

A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.


hydroa vacciniforme

A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas.


Multiple central nervous system lipomas

The presence of multiple lipomas located in the central nervous system.


Lack of bowel sounds

Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.


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

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe.


Decreased T3/T4 ratio

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


Chylopericardium

Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct.


Alpha-gal allergy

Hypersensitivity in form of an adverse immune reaction against alpha-gal.


Abnormal medullary pyramid morphology

A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.


Ivory epiphysis of the thumb

Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Absence of the third cerebral ventricle

A developmental defect characterized by the absence of the third ventricle.


Finger dactylitis

Fingers appear swollen and plump owing to inflammation of the complete finger.


Elevated urinary delta-aminolevulinic acid

An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.


Macrogyria

Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum.


Pulmonary bleb

A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura.


Decreased urinary potassium

A decreased concentration of potassium(1+) in the urine.


Focal cortical dysplasia type IIa

A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.


Elevated circulating S-adenosyl-L-methionine concentration

Concentration S-adenosyl-L-methionine in the blood circulation above the upper limit of normal.


saccharopinuria

Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.


Abnormal temporal lobe morphology

An abnormal strcutural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres.


Flexion limitation of toes

Limitation of the ability to bend the toes.


Abnormal rib morphology

An anomaly of the rib.


Bicuspid aortic valve with left-noncoronary cusp fusion

A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure.


Increased level of allantoin in serum

An increase in the level of allantoin in the serum.


Lateral clavicle hook

An excessive upward convexity of the lateral clavicle.


Aplasia/hypoplasia of the proximal phalanx of the 2nd toe

Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe.


Hyposegmentation of neutrophil nuclei in CSF

Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.


femoral agenesis/hypoplasia

Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.


Focal aware epileptic spasm

A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure.


Hypoplastic iliac body

Underdevelopment of the body of ilium.


Grandiosity

Exaggerated feelings of self-importance, superiority, uniqueness, or invulnerability.


Abnormal 5th finger phalanx morphology

Abnormality of the phalanges of the 5th (little) finger.


Hand polydactyly

A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.


Ectopic ossification in tendon tissue

Formation of abnormal bony tissue within tendon tissue.


Eyelid myokymia

Involuntary, fine, continuous, undulating contractions of the eyelid.


Reduced social reciprocity

A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person.


Impaired calcium ionophore-induced platelet aggregation

Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore.


Short middle phalanx of finger

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


Microcolon

A colon of abnormally small caliber.


Cortical radial artery hypercellularity

Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.


Midsystolic murmur

A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern.


Bifid xiphoid process

A cleft of the xiphoid process of the sternum.


Dens in dente

An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth.


Reduced collaborative imaginative play

Failure of a child to integrate with peers in imaginative play.


Reduced circulating acetylcarnitine concentration

Concentration of acetylcarnitine (C2 acylcarnitine) in the blood circulation below the lower limit of normal. Acetylcarnitine has a two-carbon acyl chain.


Thin upper lip vermilion

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


Osteolytic defects of the 1st metacarpal

Dissolution or degeneration of bone tissue of the 1st metacarpal.


Flexion contracture of finger

Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.


macrodactyly of toes

A type of Macrodactyly affecting one or several toes.


Bullet-shaped hallux phalanx

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


Acute cutaneous wound

A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin.


Triangular epiphysis of the distal phalanx of the 3rd toe


Hypoplastic iliac wing

Underdevelopment of the ilium ala.


Unconjugated hyperbilirubinemia

An increased amount of unconjugated (indirect) bilurubin in the blood.


Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal


Transthyretin cardiac amyloidosis

A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.


Pes valgus

An outward deviation of the foot at the talocalcaneal or subtalar joint.


Renal medullary pyramid hypoplasia

Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.


fourth cranial nerve palsy

A cranial nerve palsy that involves the trochlear nerve.


Triangular shaped middle phalanges of the toes


Ureter fissus

A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder.


Tyrosinuria

An abnormally increased level of tyrosine in the urine.


Abnormal motor nerve conduction velocity


Intratubular myoglobin cast

Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells.


Abnormal brainstem MRI signal intensity

A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.


Nephroptosis

A significant descent of the kidney as the patient moves from the supine to the erect position.


Increased proportion of marginal zone B cells

An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.


Short middle phalanx of the 3rd toe

Developmental hypoplasia of the middle phalanx of third toe.


Elevated CSF biopterin level

Concentration of biopterin in the cerebrospinal fluid (CSF) above the upper limit of normal.


Triangular epiphysis of the middle phalanx of the 4th toe


Complete unilateral cleft lip

Unilateral cleft lip cleft that starts from the bottom of the upper lip and reaches the nasal cavity.


Increased male libido

Increased desire for sexual activity on the part of a male.


Abnormality of the ureter

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


Cavitating pulmonary mass

Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm.


Limb dysmetria

A type of dysmetria involving the limbs.


Pontocerebellar atrophy

Atrophy affecting the pons and the cerebellum.


Incomplete breech presentation

A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal.


Hump-shaped mound of bone in central and posterior portions of vertebral endplate


Trident acetabulum

Abnormal appearance of the acetabulum characterized by spurs at the medial and lateral acetabular margin and in the center of the acetabulum, giving rise to shape resembling a three-pronged spear sadi to resemble a trident.


Corticotropin-releasing hormone receptor defect

Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor.


osteoid osteoma

A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare.


pica disease

An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development.


Increased anti-feather IgE antibody level

Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers.


Abnormal sperm motility

An anomaly of the mobility of ejaculated sperm.


Single interphalangeal crease of fifth finger

Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.


Narrow jaw

Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective).


Abnormality of the humeroulnar joint

An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint.


Pulp obliteration

Mineralized substance filling the entire dental pulp space.


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 thiamine.


Aplasia/Hypoplasia of the proximal phalanges of the hand


Aplasia of the distal phalanges of the hand


Cholesterol gallstones

Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.


humeroradial synostosis

Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.


Osteolytic defects of the proximal phalanx of the 4th toe


Symphalangism affecting the middle phalanx of the 5th toe


Broad femoral head

Increased width of the femoral head.


Erythrocyte inclusion bodies

Nuclear or cytoplasmic aggregates of substances in red blood cells.


Focal myoclonic seizure

A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.


Increased level of D-threitol in CSF

An increase in the level of D-threitol in the cerebrospinal fluid.


Hyperisoleucinemia

An increased concentration of isoleucine in the blood.


Glomerular hyalinosis at the tubular pole

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


Decreased patellar reflex

Decreased intensity of the patellar reflex (also known as the knee jerk reflex).


Increased DLCO

Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.


Tibialis anterior muscle atrophy

Wasting of the tibialis anterior muscle.


Abnormal sperm physiology

Abnormality of a sperm function including protection of paternal DNA, traversing the female reproductive tract, oocyte localisation, penetration of the zona pellucida, oocyte activation and centriole deposition.


Abnormal gallbladder physiology

A functional anomaly of the gallbladder.


Abnormal urinary nucleobase concentration

A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U).


Subchorionic septal cyst

Cyst on the surface of the placenta consisting of amnion and chorion.


Long upper lip

Increased width of the upper lip.


Pseudoepiphysis of the distal phalanx of the 5th finger

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


Anti-TRIM46 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46).


Clinodactyly

An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).


Increased CSF aspartate concentration

Abnormally increased levels of aspartic acid in cerebrospinal fluid.


Upslanting toenail

Upturned concavity of toenails.


Poorly formed metencephalon

A morphological abnormality of the metencephalon.


Aplasia of the distal phalanx of the 4th finger

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


Pericardial late gadolinium enhancement

Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium.


Fragmentation of the epiphysis of the middle phalanx of the 2nd finger


Absent fingernail

Absence of a fingernail.


EEG with photoparoxysmal response grade IV

Occurrence of generalized epileptiform discharges during photic stimulation.


Carotid artery tortuosity

Abnormal tortuous (i.e., twisted) form of the carotid arteries.


Triangular tongue

A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle.


Increased anti-dust mite IgE antibody level

Increased level of IgE antibody against dust mites, such as house dust mites.


Non-convulsive status epilepticus without coma

A type of status epilepticus without prominent motor symptoms in the absence of coma.


Anti-bactericidal/permeability-increasing protein antibody positivity

The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. BPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies.


Abnormal circulating aspartic acid concentration

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


Cortical nephrocalcinosis

The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla).


Renal tubular epithelial cell hemosiderin

Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment.


Ureteral hypoplasia

Underdevelopment of the ureter.


Hepatic xanthomatosis

Lipid deposits localized within the liver. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.


Perinephric abscess

A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney).


Sense of impending doom

A feeling that something life-threatening or tragic is about to occur.


Generalized cerebral atrophy/hypoplasia

Generalized atrophy or hypoplasia of the cerebrum.


Hypoketotic hypoglycemia

A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.


Carpometacarpal thumb joint contracture

Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint.


Anomalous origin of coronary artery from the pulmonary artery

A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta.


Prostate mass

A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.


Short digit

One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.


Impaired memory B cell generation

Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.


Renal interstitial necrotizing granulomas

An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation.


Abnormal nonverbal communicative behavior

Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication.


Symphalangism of the 5th finger

Fusion of two or more bones of the 5th finger.


Decreased KCO

Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).


Frog-leg posture

A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog.


Moyamoya phenomenon

A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.


Fetal choroid plexus cysts

Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637).


Iron accumulation in substantia nigra

An anomalous build up of iron (Fe) in the substantia nigra.


Bracket epiphysis of the distal phalanx of the 4th finger

An abnormality of the distal phalanx of the fourth 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.


Anti-LGI1 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1).


Glomerular hyalinosis away from the vascular and tubular poles

Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section.


Abnormality of the distal fibular epiphysis

Any abnormality of the distal epiphysis of the fibula.


Osteolytic defects of the proximal phalanx of the 3rd finger

Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger.


Stippling of the epiphyses of the middle phalanges of the hand


Synostosis of second metacarpal-trapezoid

Fusion of the second metacarpal-trapezoid.


Bracket epiphysis of the middle phalanx of the 4th finger

An abnormality of the middle phalanx of the fourth 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.


Absent ankle pulse

The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination.


Snowball lesion of corpus callosum

Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome.


Abnormality of the parathyroid physiology

A functional abnormality of the parathyroid gland.


Fractured manual digit

A partial or complete breakage of the manual digit.


Cardiovascular calcification

Abnormal calcification in the cardiovascular system.


Short iliac bones

Underdevelopment of the iliac bones.


Abnormal tricuspid chordae tendinae morphology

Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve.


trachea neoplasm

A neoplasm (disease) that involves the trachea.


Abnormal urine pH

A deviation of urine pH from the normal range of 4.5 to 7.8.


Large elbow

Abnormal increased size of the elbow joint.


Urethral atresia, male

Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males.


Post-angioplasty coronary artery restenosis


Avulsion fractured epiphysis of femur

A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma.


omphalitis

Inflammation of the umbilical cord stump in newborns.


Complete duplication of the proximal phalanx of the 5th toe

Complete duplication of the proximal phalanx of fifth toe.


Severe oligozoospermia

A type of oligozoospermia characterized by a total number of more than 2 but less than 10 million sperm in the ejaculate or a concentration of more than 1 but less than 5 million sperm per milliliter.


Bidirectional shunt

Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa.


Wolff-Parkinson-White syndrome

A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes.


Glomerular hyalinosis

Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular.


Abnormal femoral metaphysis morphology

An anomaly of the femoral metaphysis.


Bifid scrotum

Midline indentation or cleft of the scrotum.


Abnormality of the epiphysis of the distal phalanx of the 3rd toe


Circumferential skin creases on extremities

Ringed creases of the skin of the extremities related to folding of excess skin.


Focal impaired awareness emotional seizure with laughing

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


Aplasia/Hypoplasia of the distal phalanges of the hand

Absence or underdevelopment of the distal phalanges.


Fetal ascites

Accumulation of fluid in the peritoneal cavity during the fetal period.


congenital laryngeal web

Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.


Bracket epiphysis of the middle phalanx of the 2nd toe


Bacteria allergy

Hypersensitivity in form of an adverse immune reaction against bacteria.


thyroid hormone resistance syndrome

An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine.


Urogenital sinus anomaly

A rare birth defect in women where the urethra and vagina both open into a common channel.


Abnormality of endocrine pancreas physiology

A function abnormality of the endocrine pancreas.


osteoblastoma

A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent.


Atrioventricular reentrant tachycardia

Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove.


Focal aware behavior arrest seizure

A focal behavior arrest seizure characterised by retained awareness throughout the seizure.


Anti-GT1a IgM antibody positivity

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


Cone-shaped epiphyses of the proximal phalanges of the hand


Increased uridine diphosphate glucose-4-epimerase level in plasma

An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


Arcuate vein intimal/medial storage material accumulation

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


Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena

A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.


Recurrent maladaptive behavior

A repeating behavior that is either immediately unproductive or has negative long-term consequences. This includes harmful coping mechanisms such as addictive behavior and failure to control impulses and compulsions.


Episodic hypersomnia

Recurrent episodes of severe hypersomnia are accompanied by cognitive and behavioral disturbances, including confusion, derealization, apathy, compulsive eating, and hypersexuality.


Diminished health-related quality of life

A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles.


Fatigable weakness of bulbar muscles

A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


Anti-phosphatidyl glycerol antibody positivity

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


Tubulonodular pericallosal lipoma

A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles.


Incomplete partition of the cochlea

Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema.


Abnormal premolar morphology

An abnormality of morphology of premolar tooth.


Abnormal lower-limb metaphysis morphology


Symphalangism affecting the middle phalanx of the 2nd toe


Glomerular endothelial tubuloreticular inclusion

Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon.


Elevated circulating catecholamine level

An abnormal increase in catecholamine concentration in the blood.


Increased urinary 11-deoxycorticosterone level

An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine.